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 | 168620062 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18984.hp2 NA19009.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0035 | a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0002g0151 others(1): Show |
4 | 163 | 0.0245 | 18 | c.408 others(37): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75393602 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02717.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0003g0286 others(3): Show |
6 | 14 | 0.4286 | 18 | c.118 others(37): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 11/16 | chr5 | TogoVar | |||||||
CES5A_chr16_55841154_55880373 | 55866658 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01081.hp2 others(3): Show |
a0003a0007 | a0003c0004a0007c0068 | a0003c0004t0004a0003c0004t0006a0007c0068t0004 | a0003c0004t0004g0007 a0003c0004t0004g0009 a0003c0004t0004g0074 others(3): Show |
6 | 289 | 0.0208 | 18 | c.552 others(33): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 4/12 | chr16 | TogoVar | |||||||
CES5A_chr16_55841154_55880373 | 55867716 | C | CTTATTAT others(11): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0003 | a0003c0011 | a0003c0011t0006 | a0003c0011t0006g0172 | 1 | 448 | 0.0022 | 18 | c.552 others(35): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 4/12 | chr16 | TogoVar | |||||||
CETN1_chr18_575380_587114 | 576446 | G | GGAAGGAA others(11): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 HG01243.hp1 HG02818.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(2): Show |
8 | 125 | 0.0640 | 18 | c.-39 others(29): Show |
CETN1 | ENSG00000177143.5 | transcript | ENST00000327228.5 | protein_coding | 3933 | chr18 | TogoVar | |||||||
CETN1_chr18_575380_587114 | 586797 | A | AGATCAGC others(11): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 1 | 420 | 0.0024 | 18 | c.*58 others(29): Show |
CETN1 | ENSG00000177143.5 | transcript | ENST00000327228.5 | protein_coding | 4684 | chr18 | TogoVar | |||||||
CFAP100_chr3_126389909_126441556 | 126401397 | T | TTTTATAT others(11): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0358 | 1 | 59 | 0.0169 | 18 | c.49+ others(33): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP141_chr1_154194085_154211333 | 154203172 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 29 | 0.0345 | 18 | c.74+ others(33): Show |
CFAP141 | ENSG00000163263.7 | transcript | ENST00000368525.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
CFAP206_chr6_87402972_87469465 | 87447951 | T | TTTATTAT others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(83): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0007a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0096 others(75): Show |
86 | 232 | 0.3707 | 18 | c.149 others(39): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CFAP206_chr6_87402972_87469465 | 87447971 | T | TATTATTA others(11): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0228 | 1 | 374 | 0.0027 | 18 | c.149 others(39): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58801050 | T | TGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02622.hp2 NA18962.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0188 a0001c0002t0001g0201 a0001c0002t0002g0146 |
3 | 129 | 0.0233 | 18 | c.223 others(37): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58963190 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0134 | 1 | 26 | 0.0385 | 18 | c.279 others(37): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58990754 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0197 | 1 | 129 | 0.0078 | 18 | c.278 others(37): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | |||||||
CFAP221_chr2_119539449_119661661 | 119628294 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03654.hp1 NA19084.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0190 a0001c0001t0001g0223 a0002c0002t0001g0040 |
3 | 30 | 0.1000 | 18 | c.165 others(35): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121934655 | T | TATCGCTG others(11): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0221 | 1 | 352 | 0.0028 | 18 | c.998 others(33): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121952240 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 NA19054.hp1 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0021 a0003c0002t0001g0048 |
2 | 26 | 0.0769 | 18 | c.132 others(35): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121978393 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02257.hp2 NA18942.hp1 |
a0001 | a0001c0003a0001c0009 | a0001c0003t0001a0001c0009t0001 | a0001c0003t0001g0266 a0001c0009t0001g0062 |
2 | 24 | 0.0833 | 18 | c.300 others(37): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP276_chr1_109100951_109117747 | 109113396 | G | GAGAGAGA others(11): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG02040.hp2 NA18939.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0058 others(1): Show |
4 | 401 | 0.0100 | 18 | c.-71 others(27): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 650 | chr1 | TogoVar | |||||||
CFAP276_chr1_109100951_109117747 | 109113451 | A | AGAGAGAG others(11): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG01257.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 others(3): Show |
13 | 287 | 0.0453 | 18 | c.-77 others(27): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 705 | chr1 | TogoVar | |||||||
CFAP276_chr1_109100951_109117747 | 109113467 | A | AGAGAGAG others(11): Show |
upstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 399 | 0.0025 | 18 | c.-78 others(27): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 721 | chr1 | TogoVar | |||||||
CFAP298_chr21_32594354_32617377 | 32611318 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0082 | 1 | 374 | 0.0027 | 18 | c.139 others(33): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1/6 | chr21 | TogoVar | |||||||
CFAP298_chr21_32594354_32617377 | 32611338 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0191 a0001c0001t0010g0192 |
2 | 399 | 0.0050 | 18 | c.139 others(33): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1/6 | chr21 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80364089 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0040 |
2 | 21 | 0.0952 | 18 | c.242 others(35): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80390823 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 96 | 0.0104 | 18 | c.242 others(37): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80572507 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 13 | 0.0769 | 18 | c.243 others(37): 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(11): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02258.hp2 HG02280.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0031 others(8): Show |
11 | 14 | 0.7857 | 18 | c.243 others(35): 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(11): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 52 | 0.0192 | 18 | c.333 others(37): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80866059 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | NA18963.hp1 NA18998.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0064 a0002c0002t0001g0006 |
2 | 7 | 0.2857 | 18 | c.334 others(35): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80866059 | T | TTTTATAT others(11): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0047 | 1 | 6 | 0.1667 | 18 | c.334 others(35): 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(11): Show |
intron_variant | MODIFIER | HG02040.hp2 HG03041.hp1 HG03130.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0063 others(2): Show |
5 | 40 | 0.1250 | 18 | c.477 others(35): 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(11): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 147 | 0.0068 | 18 | c.354 others(37): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 27/37 | chr10 | TogoVar | |||||||
CFAP43_chr10_104124888_104237364 | 104157775 | T | TGTGTGAG others(11): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 a0001c0001t0001g0275 |
2 | 148 | 0.0135 | 18 | c.354 others(37): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 27/37 | chr10 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113302457 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0008 | a0008c0011 | a0008c0011t0047 | a0008c0011t0047g0170 | 1 | 185 | 0.0054 | 18 | c.507 others(37): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 32/34 | chr3 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113324042 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18946.hp2 NA18977.hp2 others(3): Show |
a0005a0037 | a0005c0005a0037c0044 | a0005c0005t0010a0005c0005t0015a0005c0005t0059others(1): Show | a0005c0005t0010g0010 a0005c0005t0010g0018 a0005c0005t0015g0014 others(3): Show |
6 | 269 | 0.0223 | 18 | c.451 others(37): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 28/34 | chr3 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113356906 | C | CACACATA others(11): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03139.hp1 HG03209.hp2 |
a0019a0028 | a0019c0020a0028c0031 | a0019c0020t0011a0028c0031t0011 | a0019c0020t0011g0007 a0028c0031t0011g0272 |
3 | 346 | 0.0087 | 18 | c.306 others(37): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 22/34 | chr3 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113433429 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 NA18944.hp1 |
a0002a0012 | a0002c0002a0012c0017 | a0002c0002t0002a0012c0017t0041 | a0002c0002t0002g0037 a0012c0017t0041g0043 |
2 | 110 | 0.0182 | 18 | c.100 others(33): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 2/34 | chr3 | TogoVar | |||||||
CFAP45_chr1_159867364_159905165 | 159878753 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02717.hp1 HG02738.hp1 others(10): Show |
a0001a0013 | a0001c0001a0013c0011 | a0001c0001t0001a0013c0011t0001 | a0001c0001t0001g0015 a0001c0001t0001g0040 a0001c0001t0001g0156 others(6): Show |
13 | 45 | 0.2889 | 18 | c.104 others(37): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132821953 | G | GTGTGTGC others(11): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02109.hp2 HG02886.hp1 |
a0031a0044a0052 | a0031c0101a0044c0102a0052c0037 | a0031c0101t0002a0044c0102t0002a0052c0037t0001 | a0031c0101t0002g0022 a0044c0102t0002g0019 a0052c0037t0001g0230 |
3 | 239 | 0.0126 | 18 | c.711 others(37): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132824718 | T | TGCTGTGT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(106): Show |
a0002a0003a0004others(29): Show | a0002c0002a0002c0003a0002c0023others(40): Show | a0002c0002t0001a0002c0003t0001a0002c0023t0001others(42): Show | a0002c0002t0001g0126 a0002c0002t0001g0134 a0002c0002t0001g0137 others(104): Show |
109 | 185 | 0.5892 | 18 | c.711 others(37): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132831220 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG02280.hp2 others(5): Show |
a0011a0018a0026others(3): Show | a0011c0010a0018c0020a0026c0016others(3): Show | a0011c0010t0001a0018c0020t0001a0026c0016t0001others(3): Show | a0011c0010t0001g0186 a0011c0010t0001g0213 a0018c0020t0001g0202 others(5): Show |
8 | 40 | 0.2000 | 18 | c.711 others(37): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 35923855 | A | ATATATGT others(11): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0015 | a0015c0020 | a0015c0020t0001 | a0015c0020t0001g0216 | 1 | 211 | 0.0047 | 18 | c.250 others(35): 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(11): Show |
intron_variant | MODIFIER | HG02809.hp1 NA20300.hp2 |
a0015a0034 | a0015c0020a0034c0054 | a0015c0020t0001a0034c0054t0001 | a0015c0020t0001g0216 a0034c0054t0001g0174 |
2 | 88 | 0.0227 | 18 | c.141 others(37): 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(11): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0010 | a0010c0030 | a0010c0030t0001 | a0010c0030t0001g0184 | 1 | 105 | 0.0095 | 18 | c.567 others(35): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 36/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36248496 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02818.hp2 HG03195.hp1 others(2): Show |
a0013a0017a0031others(2): Show | a0013c0031a0017c0066a0031c0058others(2): Show | a0013c0031t0002a0017c0066t0001a0031c0058t0002others(2): Show | a0013c0031t0002g0202 a0017c0066t0001g0137 a0031c0058t0002g0212 others(2): Show |
5 | 109 | 0.0459 | 18 | c.733 others(37): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 48/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36371681 | T | TATGTGTG others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02145.hp1 others(9): Show |
a0003a0007a0026others(3): Show | a0003c0070a0007c0006a0007c0073others(4): Show | a0003c0070t0001a0007c0006t0001a0007c0073t0001others(4): Show | a0003c0070t0001g0138 a0007c0006t0001g0175 a0007c0006t0001g0176 others(9): Show |
12 | 213 | 0.0563 | 18 | c.918 others(37): 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(11): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0007 | a0007c0013 | a0007c0013t0001 | a0007c0013t0001g0016 | 1 | 239 | 0.0042 | 18 | c.117 others(37): 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(11): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0206 | 1 | 169 | 0.0059 | 18 | c.117 others(37): 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(11): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0120 | 1 | 274 | 0.0036 | 18 | c.117 others(37): 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(11): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0145 | 1 | 249 | 0.0040 | 18 | c.117 others(37): 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(11): Show |
intron_variant | MODIFIER | HG00673.hp2 NA19002.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0003 | a0001c0002t0001g0153 a0002c0001t0003g0186 |
2 | 221 | 0.0090 | 18 | c.117 others(37): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |