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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CERS6_chr2_168451272_168780134 | 168559733 | T | TTTTTTAT others(15): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 25 | 0.0400 | 22 | c.277 others(39): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168620062 | C | CACACACA others(15): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 160 | 0.0063 | 22 | c.408 others(41): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168645142 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0032 | a0001c0001t0006g0059 a0001c0001t0032g0168 |
2 | 89 | 0.0225 | 22 | c.465 others(41): 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(15): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00544.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0182 others(20): Show |
23 | 31 | 0.7419 | 22 | c.118 others(41): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 11/16 | chr5 | TogoVar | |||||||
CERT1_chr5_75372775_75516629 | 75393602 | T | TTAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 | 1 | 9 | 0.1111 | 22 | c.118 others(41): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 11/16 | chr5 | TogoVar | |||||||
CES5A_chr16_55841154_55880373 | 55866658 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02155.hp1 NA18954.hp2 others(3): Show |
a0001a0003a0007 | a0001c0002a0003c0004a0003c0015others(1): Show | a0001c0002t0003a0003c0004t0002a0003c0015t0002others(2): Show | a0001c0002t0003g0016 a0003c0004t0002g0331 a0003c0004t0002g0371 others(3): Show |
6 | 289 | 0.0208 | 22 | c.552 others(37): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 4/12 | chr16 | TogoVar | |||||||
CETN1_chr18_575380_587114 | 576446 | G | GGAAGGAA others(15): Show |
upstream_gene_variant | MODIFIER | NA19007.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 2 | 119 | 0.0168 | 22 | c.-39 others(33): Show |
CETN1 | ENSG00000177143.5 | transcript | ENST00000327228.5 | protein_coding | 3933 | chr18 | TogoVar | |||||||
CFAP100_chr3_126389909_126441556 | 126416227 | C | CCGCGTCC others(15): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(77): Show |
a0001a0004a0006others(3): Show | a0001c0002a0001c0016a0004c0007others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(7): Show | a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0020 others(68): Show |
80 | 420 | 0.1905 | 22 | c.226 others(35): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP141_chr1_154194085_154211333 | 154203172 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 29 | 0.0345 | 22 | c.74+ others(37): Show |
CFAP141 | ENSG00000163263.7 | transcript | ENST00000368525.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169653029 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0116 | 1 | 203 | 0.0049 | 22 | c.959 others(39): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CFAP251_chr12_121913592_122008919 | 121978393 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0059 | 1 | 23 | 0.0435 | 22 | c.300 others(41): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP276_chr1_109100951_109117747 | 109113392 | C | CAGAGAGA others(15): Show |
upstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 357 | 0.0028 | 22 | c.-71 others(31): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 646 | chr1 | TogoVar | |||||||
CFAP276_chr1_109100951_109117747 | 109113451 | A | AGAGAGAG others(15): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 HG02818.hp2 NA18942.hp1 others(7): Show |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0001a0008c0008t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 others(4): Show |
10 | 284 | 0.0352 | 22 | c.-77 others(31): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 705 | chr1 | TogoVar | |||||||
CFAP276_chr1_109100951_109117747 | 109113467 | A | AGAGAGAG others(15): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0096 |
2 | 400 | 0.0050 | 22 | c.-78 others(31): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 721 | chr1 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80364089 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02486.hp2 HG02886.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0003t0001g0038 others(3): Show |
6 | 25 | 0.2400 | 22 | c.242 others(39): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80390580 | T | TATATGTA others(15): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 93 | 0.0108 | 22 | c.242 others(41): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80567731 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 | 1 | 6 | 0.1667 | 22 | c.243 others(41): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80581453 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01168.hp2 HG02523.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0042 others(3): Show |
6 | 9 | 0.6667 | 22 | c.243 others(39): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80866059 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0022 | 1 | 6 | 0.1667 | 22 | c.334 others(39): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80916252 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0093 | 1 | 10 | 0.1000 | 22 | c.477 others(41): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80967731 | T | TAACAGAT others(15): Show |
downstream_gene_variant | MODIFIER | NA18983.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0080 |
2 | 96 | 0.0208 | 22 | c.*41 others(33): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3982 | chr4 | TogoVar | |||||||
CFAP43_chr10_104124888_104237364 | 104157775 | T | TGTGTGAG others(15): Show |
intron_variant | MODIFIER | HG02083.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 a0001c0001t0001g0299 |
2 | 148 | 0.0135 | 22 | c.354 others(41): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 27/37 | chr10 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113302457 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0325 | 1 | 185 | 0.0054 | 22 | c.507 others(41): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 32/34 | chr3 | TogoVar | |||||||
CFAP45_chr1_159867364_159905165 | 159878753 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00741.hp2 HG01071.hp2 others(23): Show |
a0001a0011 | a0001c0001a0011c0013 | a0001c0001t0001a0011c0013t0001 | a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0062 others(17): Show |
26 | 58 | 0.4483 | 22 | c.104 others(41): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132831220 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 |
a0044a0050 | a0044c0102a0050c0071 | a0044c0102t0002a0050c0071t0002 | a0044c0102t0002g0019 a0050c0071t0002g0003 |
2 | 34 | 0.0588 | 22 | c.711 others(41): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132885743 | T | TGGGGAGC others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00642.hp2 others(12): Show |
a0004a0012a0033others(4): Show | a0004c0005a0012c0025a0033c0074others(4): Show | a0004c0005t0001a0004c0005t0002a0012c0025t0002others(5): Show | a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 others(12): Show |
15 | 236 | 0.0636 | 22 | c.344 others(37): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 26/57 | chr10 | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 35923906 | C | CATGTGTA others(15): Show |
intron_variant | MODIFIER | HG03139.hp1 NA19074.hp1 NA19088.hp1 |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0118 a0001c0001t0001g0119 a0006c0008t0001g0179 |
3 | 197 | 0.0152 | 22 | c.250 others(39): 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(15): Show |
intron_variant | MODIFIER | NA18966.hp1 NA20752.hp1 |
a0001a0011 | a0001c0029a0011c0062 | a0001c0029t0001a0011c0062t0001 | a0001c0029t0001g0083 a0011c0062t0001g0172 |
2 | 88 | 0.0227 | 22 | c.141 others(41): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36371920 | A | ATACACAC others(15): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02257.hp2 others(8): Show |
a0005a0006a0010others(4): Show | a0005c0005a0005c0015a0006c0008others(7): Show | a0005c0005t0001a0005c0015t0001a0006c0008t0001others(7): Show | a0005c0005t0001g0012 a0005c0015t0001g0131 a0006c0008t0001g0021 others(8): Show |
11 | 195 | 0.0564 | 22 | c.918 others(41): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 62/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631024 | A | AAGAGAGA others(15): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0174 | 1 | 239 | 0.0042 | 22 | c.117 others(41): 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(15): Show |
intron_variant | MODIFIER | HG02027.hp1 HG03041.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0068 a0001c0002t0001g0241 |
2 | 170 | 0.0118 | 22 | c.117 others(41): 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(15): Show |
intron_variant | MODIFIER | HG03239.hp2 NA19060.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0185 a0002c0001t0001g0258 |
2 | 221 | 0.0090 | 22 | c.117 others(41): 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(15): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02818.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0275 a0002c0001t0001g0054 |
2 | 79 | 0.0253 | 22 | c.117 others(41): 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(15): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0256 | 1 | 78 | 0.0128 | 22 | c.117 others(41): 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(15): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0115 | 1 | 218 | 0.0046 | 22 | c.117 others(41): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631083 | A | AAGGAAGG others(15): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0214 | 1 | 314 | 0.0032 | 22 | c.117 others(41): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | chr17 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 51 | 0.0196 | 22 | c.131 others(41): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 a0001c0001t0001g0141 |
2 | 52 | 0.0385 | 22 | c.131 others(41): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAATA others(15): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG01496.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0071 a0001c0001t0001g0136 a0001c0001t0001g0204 others(4): Show |
7 | 57 | 0.1228 | 22 | c.131 others(41): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAATATA others(15): Show |
intron_variant | MODIFIER | HG01361.hp2 HG04228.hp1 NA20300.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0001 a0003c0003t0001g0174 a0003c0003t0001g0313 |
3 | 53 | 0.0566 | 22 | c.131 others(41): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96486137 | T | TTTTCTTT others(15): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 NA19079.hp2 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0134 a0002c0007t0001g0135 |
2 | 97 | 0.0206 | 22 | c.-34 others(33): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 3439 | chr12 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96752085 | T | TGAGAGAC others(15): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0053 | a0053c0048 | a0053c0048t0001 | a0053c0048t0001g0008 | 1 | 18 | 0.0556 | 22 | c.768 others(41): 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(15): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0053 | a0053c0048 | a0053c0048t0001 | a0053c0048t0001g0008 | 1 | 154 | 0.0065 | 22 | c.885 others(41): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 63/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104358086 | C | CACACATA others(15): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0298 | 1 | 306 | 0.0033 | 22 | c.10- others(35): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104383753 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 119 | 0.0084 | 22 | c.136 others(41): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104458594 | G | GTGTATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0088 | 1 | 140 | 0.0071 | 22 | c.*40 others(33): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 3493 | chr10 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20106000 | C | CTATACAT others(15): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 78 | 0.0128 | 22 | c.859 others(39): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20202311 | A | ATTTCACA others(15): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0001 | a0001c0001t0006g0019 a0002c0002t0001g0038 |
2 | 223 | 0.0090 | 22 | c.193 others(41): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320433 | A | ATATGTAA others(15): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02970.hp1 NA18522.hp1 |
a0005a0012 | a0005c0008a0012c0018 | a0005c0008t0001a0005c0008t0003a0012c0018t0003 | a0005c0008t0001g0135 a0005c0008t0003g0184 a0012c0018t0003g0122 |
3 | 234 | 0.0128 | 22 | c.342 others(43): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP68_chr11_111874541_111890975 | 111886762 | A | ATATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0005 | 1 | 102 | 0.0098 | 22 | c.*28 others(33): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 788 | chr11 | TogoVar |