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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP41_chr7_130388771_130446016 | 130437786 | AAAGAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00733.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(19): Show | a0001c0001t0002g0004a0001c0001t0002g0009a0001c0001t0002g0036others(41): Show | 47 | 346 | 0.1358 | -9 | c.33+ others(24): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1/10 | chr7 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118519570 | GTGTGTGT others(2): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02723.hp2 others(2): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0006c0006t0009 | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0059others(2): Show | 5 | 302 | 0.0166 | -9 | c.113 others(28): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26250925 | CTTTTTTC others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG01361.hp1 others(3): Show |
a0003 | a0003c0003a0003c0005 | a0003c0003t0004a0003c0003t0006a0003c0005t0004 | a0003c0003t0004g0316a0003c0003t0006g0093a0003c0003t0006g0094others(3): Show | 6 | 342 | 0.0175 | -9 | c.209 others(26): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP89_chr19_32870925_32976958 | 32913304 | TATTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp2 others(63): Show |
a0003a0005a0010others(2): Show | a0003c0003a0003c0019a0003c0021others(4): Show | a0003c0003t0003a0003c0003t0013a0003c0003t0034others(12): Show | a0003c0003t0003g0003a0003c0003t0003g0077a0003c0003t0003g0080others(62): Show | 66 | 386 | 0.1710 | -9 | c.156 others(28): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | ||||||
CEP97_chr3_101719614_101775562 | 101723130 | AATATATA others(2): Show |
A | upstream_gene_variant | MODIFIER | NA18957.hp1 NA18999.hp2 NA19064.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024 | a0001c0001t0001g0022a0001c0001t0001g0254a0001c0001t0001g0270others(2): Show | 5 | 352 | 0.0142 | -9 | c.-15 others(20): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 1483 | chr3 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46683553 | AAAACAAG others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(180): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(87): Show | a0001c0001t0001g0053a0001c0001t0001g0087a0001c0001t0002g0246others(174): Show | 183 | 340 | 0.5382 | -9 | c.*35 others(20): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 856 | chr22 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100405240 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG01891.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0023 | a0001c0001t0002g0020a0001c0001t0002g0046a0001c0001t0002g0048others(15): Show | 18 | 362 | 0.0497 | -9 | c.100 others(28): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100497886 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG01243.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0002a0003c0004others(2): Show | a0001c0003t0005a0001c0003t0008a0001c0003t0016others(6): Show | a0001c0003t0005g0324a0001c0003t0005g0325a0001c0003t0005g0326others(19): Show | 22 | 362 | 0.0608 | -9 | c.173 others(26): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3/11 | chr15 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8267294 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01109.hp2 HG01168.hp1 others(17): Show |
a0001a0002a0003 | a0001c0002a0001c0008a0002c0003others(1): Show | a0001c0002t0001a0001c0008t0004a0002c0003t0001others(2): Show | a0001c0002t0001g0098a0001c0002t0001g0099a0001c0002t0001g0100others(17): Show | 20 | 418 | 0.0479 | -9 | c.*51 others(20): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4874 | chr19 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50132043 | TGCAGTGA others(2): Show |
T | intron_variant | MODIFIER | NA18947.hp2 NA19060.hp2 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086a0001c0001t0001g0155a0001c0001t0001g0161 | 3 | 320 | 0.0094 | -9 | c.103 others(28): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 9/9 | chr12 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50162184 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(135): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0013others(132): Show | 138 | 320 | 0.4313 | -9 | c.197 others(26): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168645089 | TTAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG02818.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0107a0001c0001t0010g0144 | 2 | 176 | 0.0114 | -9 | c.465 others(28): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168704112 | CCTTGTCA others(2): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG02071.hp1 HG02132.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0143a0001c0001t0001g0147a0001c0001t0002g0057others(8): Show | 11 | 176 | 0.0625 | -9 | c.609 others(26): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 6/9 | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168775260 | TATCATTG others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG01261.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0005a0003c0007t0005 | a0001c0001t0005g0020a0001c0001t0005g0022a0001c0001t0005g0043others(9): Show | 12 | 176 | 0.0682 | -9 | c.*55 others(20): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 127 | chr2 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75490304 | CCTGCACA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(63): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(2): Show | a0001c0001t0001g0036a0001c0002t0001g0009a0001c0002t0001g0010others(63): Show | 66 | 336 | 0.1964 | -9 | c.231 others(28): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 2/16 | chr5 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55837527 | AGGGCCAG others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0002a0002c0006t0002 | a0002c0002t0002g0064a0002c0002t0002g0065a0002c0002t0002g0066others(4): Show | 7 | 87 | 0.0805 | -9 | c.-44 others(20): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4432 | chr16 | TogoVar | ||||||
CETP_chr16_56956950_56988845 | 56964034 | ATTTATTT others(2): Show |
A | intron_variant | MODIFIER | HG00621.hp2 NA18942.hp2 NA18950.hp1 others(6): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0008 | a0001c0001t0001a0002c0002t0001a0005c0008t0001 | a0001c0001t0001g0096a0001c0001t0001g0102a0002c0002t0001g0023others(3): Show | 9 | 462 | 0.0195 | -9 | c.233 others(24): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CFAP161_chr15_81129270_81154179 | 81133218 | TATATATG others(2): Show |
T | upstream_gene_variant | MODIFIER | HG02717.hp1 HG02717.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0079a0001c0001t0002g0089a0001c0001t0003g0012 | 3 | 448 | 0.0067 | -9 | c.-11 others(20): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1051 | chr15 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81133894 | TTGCTGCT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01496.hp1 HG01496.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0006a0001c0001t0002g0011a0001c0001t0002g0030others(21): Show | 35 | 448 | 0.0781 | -9 | c.-43 others(18): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 375 | chr15 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169653030 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01516.hp2 HG02027.hp2 HG02615.hp1 |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0003c0003t0002a0005c0005t0002 | a0001c0001t0001g0203a0003c0003t0002g0038a0005c0005t0002g0037 | 3 | 390 | 0.0077 | -9 | c.959 others(26): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169686279 | CTATTGTC others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00609.hp2 others(23): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0009a0002c0002t0002g0067a0002c0002t0002g0068others(22): Show | 26 | 390 | 0.0667 | -9 | c.68- others(24): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
CFAP221_chr2_119539449_119661661 | 119591392 | TTGGTAGC others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp1 others(38): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0162a0001c0001t0001g0172a0001c0001t0001g0173others(38): Show | 41 | 226 | 0.1814 | -9 | c.631 others(26): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121924426 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(27): Show |
a0003a0013 | a0003c0003a0013c0016 | a0003c0003t0001a0013c0016t0001 | a0003c0003t0001g0057a0003c0003t0001g0087a0003c0003t0001g0088others(27): Show | 30 | 354 | 0.0848 | -9 | c.747 others(24): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP276_chr1_109100951_109117747 | 109116680 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(113): Show |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0001a0001c0001t0002a0008c0008t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0010others(29): Show | 116 | 404 | 0.2871 | -9 | c.-40 others(20): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 3934 | chr1 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80669141 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02965.hp1 HG03130.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0074a0001c0001t0002g0051others(2): Show | 5 | 96 | 0.0521 | -9 | c.333 others(28): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP43_chr10_104124888_104237364 | 104218347 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02055.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0238others(8): Show | 11 | 306 | 0.0360 | -9 | c.417 others(26): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 3/37 | chr10 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113300221 | TGGAGGTG others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02630.hp2 others(7): Show |
a0008a0011a0020others(1): Show | a0008c0010a0011c0017a0020c0020others(1): Show | a0008c0010t0027a0008c0010t0042a0008c0010t0043others(4): Show | a0008c0010t0027g0048a0008c0010t0027g0283a0008c0010t0042g0049others(6): Show | 10 | 348 | 0.0287 | -9 | c.507 others(28): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 32/34 | chr3 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113302457 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02630.hp2 HG02717.hp1 others(6): Show |
a0008a0011a0020 | a0008c0010a0011c0017a0020c0020 | a0008c0010t0027a0008c0010t0042a0008c0010t0043others(3): Show | a0008c0010t0027g0048a0008c0010t0027g0283a0008c0010t0042g0049others(5): Show | 9 | 348 | 0.0259 | -9 | c.507 others(28): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 32/34 | chr3 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113328695 | TTAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00609.hp2 others(72): Show |
a0002a0003a0007others(6): Show | a0002c0002a0003c0007a0007c0009others(6): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(19): Show | a0002c0002t0002g0034a0002c0002t0002g0035a0002c0002t0002g0039others(71): Show | 75 | 348 | 0.2155 | -9 | c.411 others(26): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 26/34 | chr3 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132822469 | ATGTGTGC others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG01261.hp1 HG02523.hp2 others(2): Show |
a0001a0009a0028others(1): Show | a0001c0001a0009c0043a0028c0027others(1): Show | a0001c0001t0002a0009c0043t0001a0028c0027t0002others(1): Show | a0001c0001t0002g0080a0009c0043t0001g0155a0028c0027t0002g0028others(2): Show | 5 | 246 | 0.0203 | -9 | c.711 others(28): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132823003 | ATGTGTGC others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp2 HG01257.hp2 others(1): Show |
a0005a0012a0070 | a0005c0006a0012c0025a0070c0074 | a0005c0006t0001a0012c0025t0002a0070c0074t0002 | a0005c0006t0001g0201a0012c0025t0002g0007a0012c0025t0002g0014others(1): Show | 4 | 246 | 0.0163 | -9 | c.711 others(28): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132823640 | GATGTGTG others(2): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02572.hp2 HG02809.hp2 others(1): Show |
a0010 | a0010c0011a0010c0072 | a0010c0011t0001a0010c0072t0002 | a0010c0011t0001g0240a0010c0011t0001g0241a0010c0011t0001g0242others(1): Show | 4 | 246 | 0.0163 | -9 | c.711 others(28): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132887305 | TCTTCTCT others(2): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01243.hp1 HG01884.hp1 others(17): Show |
a0005a0010a0012others(11): Show | a0005c0013a0010c0072a0012c0076others(14): Show | a0005c0013t0001a0010c0072t0002a0012c0076t0001others(14): Show | a0005c0013t0001g0217a0005c0013t0001g0218a0005c0013t0001g0219others(17): Show | 20 | 246 | 0.0813 | -9 | c.330 others(28): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35937104 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 216 | 0.0046 | -9 | c.402 others(26): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 2/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36037338 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02809.hp1 others(4): Show |
a0007a0037 | a0007c0006a0037c0057 | a0007c0006t0001a0037c0057t0001 | a0007c0006t0001g0178a0007c0006t0001g0179a0007c0006t0001g0180others(4): Show | 7 | 216 | 0.0324 | -9 | c.381 others(28): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 24/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36077183 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG03041.hp2 |
a0012a0032 | a0012c0010a0032c0035 | a0012c0010t0001a0032c0035t0001 | a0012c0010t0001g0132a0032c0035t0001g0015 | 2 | 216 | 0.0093 | -9 | c.469 others(28): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 29/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36320936 | AAAGTAGT others(2): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0006 | a0006c0028 | a0006c0028t0001 | a0006c0028t0001g0186 | 1 | 216 | 0.0046 | -9 | c.844 others(28): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 57/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96484863 | GTTTTTTT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(46): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0086a0002c0003others(13): Show | a0001c0001t0001a0001c0086t0001a0002c0003t0001others(14): Show | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0086t0001g0148others(46): Show | 49 | 268 | 0.1828 | -9 | c.-47 others(20): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 4713 | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96499745 | AGACCAGC others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02896.hp1 HG03098.hp1 others(1): Show |
a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0117a0004c0011t0001g0118a0004c0011t0001g0119others(1): Show | 4 | 268 | 0.0149 | -9 | c.318 others(26): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 1/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96738608 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(95): Show |
a0001a0006a0007others(18): Show | a0001c0001a0001c0012a0001c0047others(32): Show | a0001c0001t0001a0001c0012t0001a0001c0047t0001others(32): Show | a0001c0001t0001g0004a0001c0001t0001g0018a0001c0001t0001g0021others(95): Show | 98 | 268 | 0.3657 | -9 | c.696 others(28): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 50/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96874618 | TTTATTTT others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(56): Show |
a0002a0003a0004others(13): Show | a0002c0003a0002c0058a0002c0091others(22): Show | a0002c0003t0001a0002c0058t0001a0002c0091t0001others(23): Show | a0002c0003t0001g0156a0002c0003t0001g0157a0002c0003t0001g0159others(56): Show | 59 | 268 | 0.2202 | -9 | c.*15 others(24): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 67/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104413706 | ACATCATC others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02622.hp2 others(6): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(6): Show | 9 | 308 | 0.0292 | -9 | c.225 others(28): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20294937 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01361.hp1 HG01496.hp1 others(1): Show |
a0001a0002a0010 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0002a0001c0006t0006a0002c0002t0002others(1): Show | a0001c0001t0002g0225a0001c0006t0006g0011a0002c0002t0002g0039others(1): Show | 4 | 236 | 0.0170 | -9 | c.321 others(28): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20296043 | CTCCCTTC others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp2 others(66): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0003a0001c0006others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0028a0001c0001t0001g0082a0001c0001t0001g0154others(66): Show | 69 | 236 | 0.2924 | -9 | c.321 others(28): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP65_chr2_218997846_219046516 | 219033486 | GAAAGAAA others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(76): Show |
a0002a0003a0007others(12): Show | a0002c0002a0003c0003a0007c0006others(16): Show | a0002c0002t0002a0003c0003t0001a0003c0003t0002others(20): Show | a0002c0002t0002g0063a0003c0003t0001g0253a0003c0003t0002g0005others(63): Show | 79 | 322 | 0.2453 | -9 | c.543 others(24): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 5/34 | chr2 | TogoVar | ||||||
CFAP69_chr7_90240174_90316063 | 90264105 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01496.hp2 HG01515.hp2 others(9): Show |
a0001a0004 | a0001c0002a0001c0012a0004c0007 | a0001c0002t0002a0001c0002t0005a0001c0012t0002others(1): Show | a0001c0002t0002g0144a0001c0002t0002g0145a0001c0002t0002g0151others(9): Show | 12 | 338 | 0.0355 | -9 | c.357 others(26): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 4/22 | chr7 | TogoVar | ||||||
CFAP69_chr7_90240174_90316063 | 90275590 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00673.hp1 others(31): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0017a0001c0003t0001g0018a0001c0003t0001g0019others(28): Show | 34 | 338 | 0.1006 | -9 | c.985 others(26): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFAP74_chr1_1916957_2008786 | 1919188 | CAGCGGCA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(76): Show |
a0001a0008a0010others(12): Show | a0001c0001a0001c0006a0001c0022others(19): Show | a0001c0001t0001a0001c0006t0001a0001c0022t0001others(19): Show | a0001c0001t0001g0007a0001c0001t0001g0019a0001c0001t0001g0022others(76): Show | 79 | 278 | 0.2842 | -9 | c.*30 others(20): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 2768 | chr1 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119738332 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01081.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0002t0013a0001c0007t0008others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0183a0001c0002t0013g0046others(8): Show | 14 | 386 | 0.0363 | -9 | c.146 others(26): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69818352 | AAAACAAA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01069.hp1 HG01070.hp1 others(51): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0004c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(2): Show | a0001c0001t0001g0269a0001c0001t0001g0272a0001c0001t0001g0273others(51): Show | 54 | 380 | 0.1421 | -9 | c.-25 others(20): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 2464 | chr9 | TogoVar |