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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CERS5_chr12_50124289_50172369 | 50148946 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0276 | 1 | 320 | 0.0031 | 22 | c.198 others(39): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50156420 | C | CTATATAT others(15): Show |
intron_variant | MODIFIER | HG01123.hp1 HG03654.hp1 HG03688.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003 | a0001c0001t0001g0174a0002c0003t0003g0028a0002c0003t0003g0029others(1): Show | 4 | 320 | 0.0125 | 22 | c.197 others(41): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168477173 | C | CAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0031 | 1 | 176 | 0.0057 | 22 | c.170 others(41): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168559733 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01255.hp1 HG02145.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0139a0001c0001t0001g0148a0001c0001t0003g0006others(3): Show | 6 | 176 | 0.0341 | 22 | c.277 others(39): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168559733 | T | TTTTATAT others(15): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0112 | 1 | 176 | 0.0057 | 22 | c.277 others(39): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168559733 | T | TTTTTTAT others(15): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 176 | 0.0057 | 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 | 176 | 0.0057 | 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 | a0001c0001t0006g0059a0001c0001t0032g0168 | 2 | 176 | 0.0114 | 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 | a0001c0001t0002g0133a0001c0001t0002g0162a0001c0001t0002g0184others(20): Show | 23 | 336 | 0.0685 | 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 | a0001c0001t0002g0208 | 1 | 336 | 0.0030 | 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 |
a0001a0003a0025 | a0001c0002a0003c0004a0003c0015others(1): Show | a0001c0002t0003a0003c0004t0002a0003c0015t0002others(2): Show | a0001c0002t0003g0120a0003c0004t0002g0332a0003c0004t0002g0375others(3): Show | 6 | 449 | 0.0134 | 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 | 422 | 0.0047 | 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(78): Show |
a0001a0004a0006others(4): Show | a0001c0002a0001c0016a0004c0007others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(8): Show | a0001c0002t0001g0006a0001c0002t0001g0011a0001c0002t0001g0022others(74): Show | 81 | 422 | 0.1919 | 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 | a0001c0001t0001g0080 | 1 | 372 | 0.0027 | 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 | a0001c0001t0003g0111 | 1 | 390 | 0.0026 | 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 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0059 | 1 | 354 | 0.0028 | 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 | 404 | 0.0025 | 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 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0011others(4): Show | 10 | 404 | 0.0248 | 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 | a0001c0001t0001g0095a0001c0001t0001g0096 | 2 | 404 | 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 | a0001c0001t0001g0041a0001c0001t0001g0048a0001c0003t0001g0038others(3): Show | 6 | 96 | 0.0625 | 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 | 96 | 0.0104 | 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 | 96 | 0.0104 | 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 | a0001c0001t0001g0004a0001c0001t0001g0013a0001c0001t0001g0042others(3): Show | 6 | 96 | 0.0625 | 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 | 96 | 0.0104 | 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 | 96 | 0.0104 | 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 | a0001c0001t0001g0074a0001c0001t0001g0080 | 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 | a0001c0001t0001g0280a0001c0001t0001g0300 | 2 | 306 | 0.0065 | 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 | a0001c0001t0039g0327 | 1 | 348 | 0.0029 | 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 |
a0001a0014 | a0001c0001a0014c0013 | a0001c0001t0001a0014c0013t0001 | a0001c0001t0001g0024a0001c0001t0001g0026a0001c0001t0001g0062others(17): Show | 26 | 410 | 0.0634 | 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 |
a0065a0068 | a0065c0102a0068c0071 | a0065c0102t0002a0068c0071t0002 | a0065c0102t0002g0018a0068c0071t0002g0003 | 2 | 246 | 0.0081 | 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 | a0004c0005a0012c0025a0033c0048others(4): Show | a0004c0005t0001a0004c0005t0002a0012c0025t0002others(5): Show | a0004c0005t0001g0220a0004c0005t0001g0221a0004c0005t0001g0222others(12): Show | 15 | 246 | 0.0610 | 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 | a0001c0001t0001g0028a0001c0001t0001g0029a0006c0008t0001g0175 | 3 | 216 | 0.0139 | 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 |
a0001a0009 | a0001c0029a0009c0065 | a0001c0029t0001a0009c0065t0001 | a0001c0029t0001g0083a0009c0065t0001g0173 | 2 | 216 | 0.0093 | 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 |
a0005a0006a0011others(4): Show | a0005c0005a0005c0015a0006c0008others(7): Show | a0005c0005t0001a0005c0015t0001a0006c0008t0001others(7): Show | a0005c0005t0001g0012a0005c0015t0001g0131a0006c0008t0001g0022others(8): Show | 11 | 216 | 0.0509 | 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 | a0002c0001t0001g0175 | 1 | 316 | 0.0032 | 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 | a0001c0002t0001g0067a0001c0002t0001g0242 | 2 | 316 | 0.0063 | 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 | a0001c0002t0001g0186a0002c0001t0001g0259 | 2 | 316 | 0.0063 | 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 | a0001c0002t0001g0276a0002c0001t0001g0054 | 2 | 316 | 0.0063 | 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 | a0001c0002t0001g0257 | 1 | 316 | 0.0032 | 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 | a0002c0001t0001g0114 | 1 | 316 | 0.0032 | 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 | a0001c0005t0004g0215 | 1 | 316 | 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 | a0001c0001t0001g0161 | 1 | 402 | 0.0025 | 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 | a0001c0001t0001g0167a0001c0001t0001g0168 | 2 | 402 | 0.0050 | 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 | a0001c0001t0001g0055a0001c0001t0001g0163a0001c0001t0001g0266others(4): Show | 7 | 402 | 0.0174 | 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 | a0002c0002t0001g0128a0003c0003t0001g0231a0003c0003t0001g0363 | 3 | 402 | 0.0075 | 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 | a0002c0007t0001g0134a0002c0007t0001g0135 | 2 | 268 | 0.0075 | 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 | a0056 | a0056c0048 | a0056c0048t0001 | a0056c0048t0001g0008 | 1 | 268 | 0.0037 | 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 | a0056 | a0056c0048 | a0056c0048t0001 | a0056c0048t0001g0008 | 1 | 268 | 0.0037 | 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 | a0001c0007t0001g0297 | 1 | 308 | 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 | a0001c0001t0001g0157 | 1 | 308 | 0.0033 | 22 | c.136 others(41): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |