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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CELF2_chr10_11012872_11341675 | 11301496 | CCCCCACC others(14): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0041 | 1 | 192 | 0.0052 | -21 | c.977 others(40): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3299509 | CTCCTCCT others(14): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp1 NA20805.hp1 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0128 a0001c0003t0004g0220 |
2 | 238 | 0.0084 | -21 | c.*27 others(32): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2434 | chr19 | TogoVar | |||||||
CELF6_chr15_72279727_72325157 | 72323658 | GTCATTTG others(14): Show |
G | upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 298 | 0.0034 | -21 | c.-38 others(32): Show |
CELF6 | ENSG00000140488.16 | transcript | ENST00000287202.10 | protein_coding | 3502 | chr15 | TogoVar | |||||||
CELF6_chr15_72279727_72325157 | 72325128 | TTTTCTTT others(14): Show |
T | upstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 289 | 0.0035 | -21 | c.-52 others(32): Show |
CELF6 | ENSG00000140488.16 | transcript | ENST00000287202.10 | protein_coding | 4972 | chr15 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80848953 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG01168.hp2 HG01975.hp2 others(14): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(4): Show | a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0045 others(14): Show |
17 | 18 | 0.9444 | -21 | c.-17 others(42): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CENPO_chr2_24788425_24827376 | 24799040 | ATGGCACT others(14): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(137): Show |
a0001a0004a0007others(1): Show | a0001c0001a0004c0009a0007c0006others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0021others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(89): Show |
140 | 380 | 0.3684 | -21 | c.47- others(34): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92449437 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 8 | 0.1250 | -21 | c.564 others(40): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92552164 | ATATGTGA others(14): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 260 | 0.0038 | -21 | c.565 others(40): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | chr9 | TogoVar | |||||||
CENPP_chr9_92320953_92625529 | 92555003 | TTTGTTGT others(14): Show |
T | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0134 | 1 | 161 | 0.0062 | -21 | c.565 others(40): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPT_chr16_67823157_67852693 | 67842881 | GCAGCAGC others(14): Show |
G | intron_variant | MODIFIER | NA18951.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0083 | 1 | 264 | 0.0038 | -21 | c.-49 others(40): Show |
CENPT | ENSG00000102901.13 | transcript | ENST00000562787.6 | protein_coding | 1/15 | chr16 | TogoVar | |||||||
CENPT_chr16_67823157_67852693 | 67842902 | ACAGCAGC others(14): Show |
A | intron_variant | MODIFIER | HG03041.hp1 HG03225.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 |
3 | 258 | 0.0116 | -21 | c.-49 others(40): Show |
CENPT | ENSG00000102901.13 | transcript | ENST00000562787.6 | protein_coding | 1/15 | chr16 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101911094 | CTTTTTTT others(14): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 NA18972.hp2 NA18975.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0042a0001c0002t0001 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0078 others(3): Show |
6 | 12 | 0.5000 | -21 | c.-41 others(32): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3915 | chr11 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80729055 | GGGGGTGT others(14): Show |
G | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 1 | 161 | 0.0062 | -21 | c.280 others(42): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80944822 | CAAAAAAA others(14): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG03540.hp2 |
a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0017 a0001c0008t0005g0018 |
2 | 35 | 0.0571 | -21 | c.-34 others(32): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 3085 | chr14 | TogoVar | |||||||
CEP170B_chr14_104860268_104901747 | 104872144 | CCGTGTGT others(14): Show |
C | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 326 | 0.0031 | -21 | c.105 others(38): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180011278 | ACTCTTTG others(14): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
a0002a0008a0009others(1): Show | a0002c0020a0008c0029a0009c0009others(1): Show | a0002c0020t0019a0008c0029t0010a0009c0009t0008others(1): Show | a0002c0020t0019g0011 a0008c0029t0010g0012 a0009c0009t0008g0008 others(3): Show |
6 | 246 | 0.0244 | -21 | c.124 others(38): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130437774 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0004 | a0004c0004 | a0004c0004t0081 | a0004c0004t0081g0293 | 1 | 344 | 0.0029 | -21 | c.33+ others(36): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
CEP43_chr6_166994397_167057718 | 167019257 | GCATACAC others(14): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00621.hp2 others(21): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0020a0002c0002t0015a0002c0002t0035others(15): Show | a0001c0001t0020g0054 a0001c0001t0020g0063 a0002c0002t0015g0010 others(20): Show |
24 | 374 | 0.0642 | -21 | c.580 others(38): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP43_chr6_166994397_167057718 | 167019278 | ACATACAC others(14): Show |
A | intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0081 | 1 | 257 | 0.0039 | -21 | c.580 others(38): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109136697 | GTATTTTT others(14): Show |
G | intron_variant | MODIFIER | HG02818.hp2 HG03130.hp1 |
a0002 | a0002c0002 | a0002c0002t0079a0002c0002t0081 | a0002c0002t0079g0204 a0002c0002t0081g0011 |
2 | 182 | 0.0110 | -21 | c.-3- others(36): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94318113 | AATTATCA others(14): Show |
A | intron_variant | MODIFIER | HG02056.hp2 NA18962.hp1 NA19072.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0030 a0001c0001t0007g0031 a0001c0001t0007g0032 others(1): Show |
4 | 362 | 0.0110 | -21 | c.170 others(40): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 14/16 | chr12 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118487490 | AGAAATCC others(14): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0258 | 1 | 300 | 0.0033 | -21 | c.143 others(40): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 6/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600301 | GTGTGTGT others(14): Show |
G | intron_variant | MODIFIER | NA18978.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0192 | 1 | 276 | 0.0036 | -21 | c.232 others(40): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32947856 | AATGGTGC others(14): Show |
A | intron_variant | MODIFIER | NA19063.hp1 | a0003 | a0003c0003 | a0003c0003t0013 | a0003c0003t0013g0272 | 1 | 384 | 0.0026 | -21 | c.595 others(36): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
CEP97_chr3_101719614_101775562 | 101723413 | AAATATAT others(14): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00544.hp1 others(107): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0003a0004c0004others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0012others(5): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0005 others(90): Show |
110 | 350 | 0.3143 | -21 | c.-12 others(32): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 1200 | chr3 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181606366 | AGGGAGAG others(14): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG03710.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0250 a0001c0002t0001g0042 a0001c0002t0003g0026 others(1): Show |
4 | 259 | 0.0154 | -21 | c.239 others(38): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168698236 | GAAAAAAA others(14): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01978.hp2 HG02071.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0058 a0001c0001t0001g0143 a0001c0001t0001g0147 others(9): Show |
12 | 79 | 0.1519 | -21 | c.609 others(38): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75405800 | TACATATA others(14): Show |
T | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0118 | 1 | 334 | 0.0030 | -21 | c.931 others(38): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 8/16 | chr5 | TogoVar | |||||||
CFAP161_chr15_81129270_81154179 | 81142464 | GTGTTCAC others(14): Show |
G | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 446 | 0.0022 | -21 | c.478 others(38): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 4/6 | chr15 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169642755 | ACAGATCG others(14): Show |
A | downstream_gene_variant | MODIFIER | HG03209.hp2 HG03225.hp2 NA20129.hp2 |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0236 a0007c0009t0001g0237 a0007c0009t0001g0238 |
3 | 388 | 0.0077 | -21 | c.*30 others(32): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 2669 | chr2 | TogoVar | |||||||
CFAP410_chr21_44323944_44344390 | 44338913 | CCCCGCCC others(14): Show |
C | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 430 | 0.0023 | -21 | c.77+ others(34): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 1/6 | chr21 | TogoVar | |||||||
CFAP410_chr21_44323944_44344390 | 44338935 | CCCCGCCC others(14): Show |
C | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0286 | 1 | 433 | 0.0023 | -21 | c.77+ others(34): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 1/6 | chr21 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132820692 | TGCTGATG others(14): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(66): Show |
a0002a0003a0004others(9): Show | a0002c0002a0002c0003a0002c0023others(18): Show | a0002c0002t0001a0002c0003t0001a0002c0023t0001others(19): Show | a0002c0002t0001g0126 a0002c0002t0001g0134 a0002c0002t0001g0137 others(64): Show |
69 | 244 | 0.2828 | -21 | c.711 others(40): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132820714 | GCTGATGT others(14): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(7): Show |
a0011a0018a0030others(3): Show | a0011c0010a0018c0020a0030c0056others(3): Show | a0011c0010t0001a0018c0020t0001a0030c0056t0001others(3): Show | a0011c0010t0001g0186 a0011c0010t0001g0187 a0011c0010t0001g0193 others(7): Show |
10 | 227 | 0.0441 | -21 | c.711 others(40): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132820864 | CTGTGTGT others(14): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0043 | a0043c0093 | a0043c0093t0001 | a0043c0093t0001g0121 | 1 | 243 | 0.0041 | -21 | c.711 others(40): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132820946 | CTGTGTGT others(14): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG06807.hp2 |
a0015 | a0015c0022 | a0015c0022t0001 | a0015c0022t0001g0211 a0015c0022t0001g0212 |
2 | 244 | 0.0082 | -21 | c.711 others(40): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132821100 | TTGTGTGT others(14): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(79): Show |
a0002a0003a0004others(15): Show | a0002c0002a0002c0003a0002c0023others(25): Show | a0002c0002t0001a0002c0003t0001a0002c0023t0001others(27): Show | a0002c0002t0001g0126 a0002c0002t0001g0134 a0002c0002t0001g0137 others(77): Show |
82 | 243 | 0.3374 | -21 | c.711 others(40): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132821311 | GTGTGTGC others(14): Show |
G | intron_variant | MODIFIER | HG02615.hp1 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0130 | 1 | 244 | 0.0041 | -21 | c.711 others(40): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132821404 | CTGTGTGC others(14): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(7): Show |
a0011a0018a0030others(3): Show | a0011c0010a0018c0020a0030c0056others(3): Show | a0011c0010t0001a0018c0020t0001a0030c0056t0001others(3): Show | a0011c0010t0001g0186 a0011c0010t0001g0187 a0011c0010t0001g0193 others(7): Show |
10 | 244 | 0.0410 | -21 | c.711 others(40): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132821721 | TGCTGACG others(14): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(7): Show |
a0011a0018a0030others(3): Show | a0011c0010a0018c0020a0030c0056others(3): Show | a0011c0010t0001a0018c0020t0001a0030c0056t0001others(3): Show | a0011c0010t0001g0186 a0011c0010t0001g0187 a0011c0010t0001g0193 others(7): Show |
10 | 244 | 0.0410 | -21 | c.711 others(40): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132822193 | CTGTGTGC others(14): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp2 HG02109.hp2 others(4): Show |
a0019a0031a0044others(3): Show | a0019c0027a0031c0101a0044c0102others(3): Show | a0019c0027t0002a0031c0101t0002a0044c0102t0002others(3): Show | a0019c0027t0002g0026 a0019c0027t0002g0078 a0031c0101t0002g0022 others(4): Show |
7 | 244 | 0.0287 | -21 | c.711 others(40): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132822957 | GGTGATGT others(14): Show |
G | intron_variant | MODIFIER | HG02809.hp1 | a0027 | a0027c0036 | a0027c0036t0001 | a0027c0036t0001g0144 | 1 | 244 | 0.0041 | -21 | c.711 others(40): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132825038 | GTGATGTG others(14): Show |
G | intron_variant | MODIFIER | HG04204.hp2 | a0062 | a0062c0051 | a0062c0051t0001 | a0062c0051t0001g0157 | 1 | 244 | 0.0041 | -21 | c.711 others(40): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132887717 | CTCTCTCT others(14): Show |
C | intron_variant | MODIFIER | HG02135.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0166 | 1 | 244 | 0.0041 | -21 | c.330 others(40): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 36077183 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG02572.hp1 NA18906.hp1 |
a0010a0013 | a0010c0030a0013c0031 | a0010c0030t0001a0013c0031t0002 | a0010c0030t0001g0184 a0013c0031t0002g0202 |
2 | 25 | 0.0800 | -21 | c.469 others(40): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 29/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36303778 | CAAGTTTA others(14): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02723.hp2 others(9): Show |
a0007a0016a0033others(1): Show | a0007c0006a0007c0073a0016c0018others(3): Show | a0007c0006t0001a0007c0073t0001a0016c0018t0001others(3): Show | a0007c0006t0001g0175 a0007c0006t0001g0176 a0007c0006t0001g0177 others(9): Show |
12 | 214 | 0.0561 | -21 | c.797 others(36): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 53/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631031 | AGAGAGAG others(14): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0001 | 2 | 311 | 0.0064 | -21 | c.117 others(40): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | chr17 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96825281 | TTATATAT others(14): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG02965.hp1 |
a0003a0011 | a0003c0002a0011c0013 | a0003c0002t0001a0011c0013t0001 | a0003c0002t0001g0225 a0011c0013t0001g0188 |
2 | 266 | 0.0075 | -21 | c.909 others(40): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96874612 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG01123.hp2 HG01358.hp1 others(15): Show |
a0005a0057 | a0005c0004a0005c0015a0005c0020others(2): Show | a0005c0004t0001a0005c0015t0001a0005c0020t0001others(2): Show | a0005c0004t0001g0009 a0005c0004t0001g0011 a0005c0004t0001g0012 others(15): Show |
18 | 167 | 0.1078 | -21 | c.*15 others(36): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 67/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20072091 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(55): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0001g0163 others(55): Show |
58 | 69 | 0.8406 | -21 | c.294 others(38): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |