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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP206_chr6_87402972_87469465 | 87447951 | T | TTTATTAT others(14): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(66): Show |
a0001a0002a0007 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(56): Show | 69 | 376 | 0.1835 | 21 | c.149 others(42): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CFAP20DC_chr3_58737008_59055025 | 58751867 | A | ACACACAC others(14): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03139.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0199a0001c0002t0001g0200 | 2 | 204 | 0.0098 | 21 | c.233 others(40): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 16/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58763469 | T | TGCCATGG others(14): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0196 | 1 | 204 | 0.0049 | 21 | c.223 others(40): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169653029 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0110 | 1 | 390 | 0.0026 | 21 | c.959 others(38): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169653029 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0125 | 1 | 390 | 0.0026 | 21 | c.959 others(38): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169653029 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0120a0001c0001t0003g0126 | 2 | 390 | 0.0051 | 21 | c.959 others(38): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121966151 | C | CCCCCTCC others(14): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 354 | 0.0028 | 21 | c.249 others(38): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121966155 | T | TCCCCTCC others(14): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 354 | 0.0028 | 21 | c.249 others(38): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121978393 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02970.hp1 |
a0003a0008 | a0003c0003a0008c0010 | a0003c0003t0001a0008c0010t0001 | a0003c0003t0001g0349a0008c0010t0001g0217 | 2 | 354 | 0.0057 | 21 | c.300 others(40): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121999733 | C | CGAAATCA others(14): Show |
disruptive_inframe_insertion | MODERATE | HG01258.hp2 | a0011 | a0011c0019 | a0011c0019t0002 | a0011c0019t0002g0338 | 1 | 354 | 0.0028 | 21 | c.302 others(30): Show |
p.Glu others(15): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 20/22 | 3171/3729 | 3047/3450 | 1016/1149 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
CFAP276_chr1_109100951_109117747 | 109113396 | G | GAGAGAGA others(14): Show |
upstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 404 | 0.0025 | 21 | c.-71 others(30): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 650 | chr1 | TogoVar | ||||||
CFAP276_chr1_109100951_109117747 | 109113451 | A | AGAGAGAG others(14): Show |
upstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 404 | 0.0025 | 21 | c.-77 others(30): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 705 | chr1 | TogoVar | ||||||
CFAP298_chr21_32594354_32617377 | 32611339 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0216 | 1 | 416 | 0.0024 | 21 | c.139 others(36): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1/6 | chr21 | TogoVar | ||||||
CFAP298_chr21_32594354_32617377 | 32611339 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02559.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0072a0001c0001t0003g0207 | 2 | 416 | 0.0048 | 21 | c.139 others(36): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1/6 | chr21 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80364089 | A | ACACACAC others(14): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 96 | 0.0104 | 21 | c.242 others(38): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80799812 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp2 others(42): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0009others(42): Show | 45 | 96 | 0.4688 | 21 | c.334 others(40): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80800512 | T | TATATAAT others(14): Show |
intron_variant | MODIFIER | NA18983.hp2 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042a0001c0001t0001g0044 | 2 | 96 | 0.0208 | 21 | c.334 others(40): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80800583 | T | TAATATAT others(14): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028 | 1 | 96 | 0.0104 | 21 | c.334 others(40): 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(14): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0050 | 1 | 96 | 0.0104 | 21 | c.477 others(38): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP36_chr2_55514718_55550079 | 55517643 | A | AACATGGT others(14): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0046 | 1 | 400 | 0.0025 | 21 | c.-21 others(32): Show |
CFAP36 | ENSG00000163001.12 | transcript | ENST00000349456.9 | protein_coding | 2074 | chr2 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113302457 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0009 | a0009c0011 | a0009c0011t0033 | a0009c0011t0033g0025 | 1 | 348 | 0.0029 | 21 | c.507 others(40): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 32/34 | chr3 | TogoVar | ||||||
CFAP45_chr1_159867364_159905165 | 159878753 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG01070.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0014a0001c0001t0001g0061others(18): Show | 33 | 410 | 0.0805 | 21 | c.104 others(40): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132821953 | G | GTGTGTGC others(14): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01261.hp1 HG03017.hp1 others(2): Show |
a0009a0028a0051others(1): Show | a0009c0043a0028c0027a0051c0105others(1): Show | a0009c0043t0001a0028c0027t0002a0051c0105t0001others(1): Show | a0009c0043t0001g0155a0028c0027t0002g0028a0028c0027t0002g0077others(2): Show | 5 | 246 | 0.0203 | 21 | c.711 others(40): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132822784 | G | GTGTGTGC others(14): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(79): Show |
a0002a0003a0004others(13): Show | a0002c0002a0002c0003a0002c0023others(23): Show | a0002c0002t0001a0002c0003t0001a0002c0023t0001others(25): Show | a0002c0002t0001g0126a0002c0002t0001g0141a0002c0002t0001g0159others(77): Show | 82 | 246 | 0.3333 | 21 | c.711 others(40): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132822940 | C | CTGTGTGC others(14): Show |
intron_variant | MODIFIER | HG00544.hp2 NA19004.hp2 NA20905.hp2 |
a0028a0071 | a0028c0027a0071c0098 | a0028c0027t0002a0071c0098t0002 | a0028c0027t0002g0028a0028c0027t0002g0077a0071c0098t0002g0023 | 3 | 246 | 0.0122 | 21 | c.711 others(40): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132823408 | C | CTGTGTGC others(14): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02109.hp2 HG02886.hp1 |
a0038a0064a0065 | a0038c0037a0064c0101a0065c0102 | a0038c0037t0001a0064c0101t0002a0065c0102t0002 | a0038c0037t0001g0230a0064c0101t0002g0022a0065c0102t0002g0018 | 3 | 246 | 0.0122 | 21 | c.711 others(40): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132887976 | C | CTCTCTCT others(14): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01256.hp1 HG01517.hp1 others(2): Show |
a0001a0015a0063 | a0001c0001a0015c0015a0063c0079 | a0001c0001t0002a0015c0015t0002a0063c0079t0002 | a0001c0001t0002g0034a0001c0001t0002g0037a0015c0015t0002g0044others(2): Show | 5 | 246 | 0.0203 | 21 | c.330 others(40): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631040 | G | GAAAGAAG others(14): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0145 | 1 | 316 | 0.0032 | 21 | c.117 others(40): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9631044 | G | GAAGAAAG others(14): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0039 | 1 | 316 | 0.0032 | 21 | c.117 others(40): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAGAGAAG others(14): Show |
intron_variant | MODIFIER | NA18953.hp2 NA19084.hp2 |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0003 | a0002c0001t0002g0140a0002c0001t0003g0230 | 2 | 316 | 0.0063 | 21 | c.117 others(40): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9631067 | A | AGAGAGAG others(14): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0130 | 1 | 316 | 0.0032 | 21 | c.117 others(40): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | chr17 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAAAT others(14): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0110 | 1 | 402 | 0.0025 | 21 | c.131 others(40): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAATAT others(14): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01257.hp1 HG02300.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0070a0001c0001t0001g0084a0001c0001t0001g0098others(2): Show | 5 | 402 | 0.0124 | 21 | c.131 others(40): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAATATAT others(14): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0241 | 1 | 402 | 0.0025 | 21 | c.131 others(40): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96634046 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18968.hp2 |
a0009a0022 | a0009c0008a0022c0045 | a0009c0008t0001a0022c0045t0001 | a0009c0008t0001g0198a0022c0045t0001g0081 | 2 | 268 | 0.0075 | 21 | c.431 others(40): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 32/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96654832 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0008 | a0008c0056 | a0008c0056t0001 | a0008c0056t0001g0020 | 1 | 268 | 0.0037 | 21 | c.510 others(40): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 36/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96709701 | T | TTTATTAT others(14): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0063 | a0063c0099 | a0063c0099t0003 | a0063c0099t0003g0195 | 1 | 268 | 0.0037 | 21 | c.672 others(38): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 48/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104439704 | T | TAACAACA others(14): Show |
intron_variant | MODIFIER | NA18975.hp2 NA19002.hp2 NA19062.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0078a0002c0002t0001g0079a0002c0002t0001g0284others(1): Show | 4 | 308 | 0.0130 | 21 | c.225 others(40): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20084401 | C | CCTGCTGC others(14): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03453.hp2 NA19043.hp2 |
a0007 | a0007c0010 | a0007c0010t0003 | a0007c0010t0003g0130a0007c0010t0003g0131a0007c0010t0003g0133 | 3 | 236 | 0.0127 | 21 | c.567 others(38): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20355425 | C | CTGAGGGG others(14): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0201 | 1 | 236 | 0.0042 | 21 | c.351 others(40): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20355425 | C | CTGAGGGG others(14): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0108 | 1 | 236 | 0.0042 | 21 | c.351 others(40): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20355435 | G | GTAGTGAC others(14): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03195.hp2 NA18955.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0004a0002c0002t0001others(2): Show | a0001c0001t0001g0178a0001c0003t0004g0005a0002c0002t0001g0143others(3): Show | 6 | 236 | 0.0254 | 21 | c.351 others(40): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20355798 | G | GGAGGTAG others(14): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02647.hp2 |
a0009a0011 | a0009c0014a0011c0018 | a0009c0014t0007a0011c0018t0003 | a0009c0014t0007g0006a0011c0018t0003g0122 | 2 | 236 | 0.0085 | 21 | c.351 others(40): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20356312 | C | CTGAGGGG others(14): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01346.hp1 HG03490.hp1 |
a0001a0002 | a0001c0003a0002c0002a0002c0004 | a0001c0003t0001a0002c0002t0001a0002c0004t0001 | a0001c0003t0001g0096a0002c0002t0001g0116a0002c0004t0001g0065 | 3 | 236 | 0.0127 | 21 | c.351 others(40): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20356421 | G | GTGGTCAC others(14): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02895.hp1 HG03098.hp1 |
a0001a0002 | a0001c0012a0002c0022 | a0001c0012t0002a0001c0012t0006a0002c0022t0002 | a0001c0012t0002g0172a0001c0012t0006g0009a0002c0022t0002g0049 | 3 | 236 | 0.0127 | 21 | c.351 others(40): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20356647 | C | CTGAGGGG others(14): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0108 | 1 | 236 | 0.0042 | 21 | c.351 others(40): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20356707 | T | TGGGGAGG others(14): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG03098.hp1 others(2): Show |
a0001a0002a0009others(1): Show | a0001c0006a0001c0012a0002c0022others(2): Show | a0001c0006t0003a0001c0012t0002a0002c0022t0002others(2): Show | a0001c0006t0003g0021a0001c0012t0002g0172a0002c0022t0002g0049others(2): Show | 5 | 236 | 0.0212 | 21 | c.351 others(40): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20356791 | G | GGTGGTCA others(14): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02109.hp1 HG02145.hp1 others(4): Show |
a0001a0010a0012others(2): Show | a0001c0001a0010c0016a0012c0019others(2): Show | a0001c0001t0002a0010c0016t0002a0012c0019t0003others(2): Show | a0001c0001t0002g0035a0001c0001t0002g0061a0001c0001t0002g0198others(4): Show | 7 | 236 | 0.0297 | 21 | c.351 others(40): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20356842 | T | TGGGGAGG others(14): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(82): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0040a0001c0001t0001g0157a0001c0001t0001g0178others(82): Show | 85 | 236 | 0.3602 | 21 | c.351 others(40): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20356917 | C | CTGAGGGG others(14): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02723.hp2 HG03139.hp2 |
a0012a0022a0024 | a0012c0019a0022c0042a0024c0029 | a0012c0019t0003a0022c0042t0003a0024c0029t0003 | a0012c0019t0003g0120a0022c0042t0003g0128a0024c0029t0003g0132 | 3 | 236 | 0.0127 | 21 | c.351 others(40): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |