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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP126_chr1_161359733_161372876 | 161371463 | GGCTGGTT others(7): Show |
G | upstream_gene_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 350 | 0.0029 | -14 | c.-36 others(25): Show |
CFAP126 | ENSG00000188931.4 | transcript | ENST00000367974.2 | protein_coding | 3588 | chr1 | TogoVar | ||||||
CFAP141_chr1_154194085_154211333 | 154203172 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01891.hp1 HG02818.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0033a0001c0001t0001g0051others(5): Show | 13 | 372 | 0.0350 | -14 | c.74+ others(29): Show |
CFAP141 | ENSG00000163263.7 | transcript | ENST00000368525.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81133176 | CATATATA others(7): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp1 NA18961.hp2 NA19004.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055a0001c0001t0001g0138a0001c0001t0001g0141 | 4 | 448 | 0.0089 | -14 | c.-11 others(25): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1093 | chr15 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81133211 | ATATATAT others(7): Show |
A | upstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01361.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(5): Show | 10 | 448 | 0.0223 | -14 | c.-11 others(25): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1058 | chr15 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81133215 | ATATATAT others(7): Show |
A | upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 448 | 0.0022 | -14 | c.-11 others(25): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1054 | chr15 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81133217 | ATATATAT others(7): Show |
A | upstream_gene_variant | MODIFIER | HG03704.hp2 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0091 | 2 | 448 | 0.0045 | -14 | c.-11 others(25): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1052 | chr15 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81146831 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0280 | 1 | 448 | 0.0022 | -14 | c.637 others(29): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CFAP206_chr6_87402972_87469465 | 87466575 | GCATAAAT others(7): Show |
G | downstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 376 | 0.0027 | -14 | c.*23 others(25): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 2111 | chr6 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58856301 | CACACACA others(7): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp1 HG02717.hp2 others(8): Show |
a0002a0004a0011 | a0002c0003a0002c0009a0004c0006others(1): Show | a0002c0003t0001a0002c0009t0001a0004c0006t0001others(1): Show | a0002c0003t0001g0166a0002c0003t0001g0167a0002c0003t0001g0168others(8): Show | 11 | 204 | 0.0539 | -14 | c.159 others(33): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 12/16 | chr3 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58963190 | TTGTGTGT others(7): Show |
T | intron_variant | MODIFIER | HG01891.hp2 NA18906.hp2 |
a0001a0002 | a0001c0012a0002c0003 | a0001c0012t0002a0002c0003t0001 | a0001c0012t0002g0157a0002c0003t0001g0165 | 2 | 204 | 0.0098 | -14 | c.279 others(33): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | ||||||
CFAP20_chr16_58108592_58134381 | 58123552 | TGCCACTG others(7): Show |
T | intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 400 | 0.0025 | -14 | c.84+ others(29): Show |
CFAP20 | ENSG00000070761.8 | transcript | ENST00000262498.8 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
CFAP20_chr16_58108592_58134381 | 58123595 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG01109.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0035others(11): Show | 41 | 400 | 0.1025 | -14 | c.84+ others(29): Show |
CFAP20 | ENSG00000070761.8 | transcript | ENST00000262498.8 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169653027 | AAAATATA others(7): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp2 NA18999.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0003c0003t0002 | a0001c0001t0001g0287a0001c0001t0001g0295a0002c0002t0002g0009others(1): Show | 5 | 390 | 0.0128 | -14 | c.959 others(31): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169653029 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | HG01123.hp1 NA18906.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286a0001c0001t0001g0292a0001c0001t0001g0293 | 3 | 390 | 0.0077 | -14 | c.959 others(31): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169653054 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | HG02080.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0083 | 1 | 390 | 0.0026 | -14 | c.959 others(31): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121928626 | GTATATAT others(7): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG01168.hp1 HG01169.hp2 others(44): Show |
a0005a0006a0011others(1): Show | a0005c0005a0005c0015a0006c0006others(2): Show | a0005c0005t0001a0005c0005t0003a0005c0015t0001others(3): Show | a0005c0005t0001g0218a0005c0005t0001g0219a0005c0005t0001g0220others(44): Show | 47 | 354 | 0.1328 | -14 | c.748 others(31): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121962279 | TGCTTTGC others(7): Show |
T | intron_variant | MODIFIER | NA18981.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0060 | 1 | 354 | 0.0028 | -14 | c.249 others(31): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121998432 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | HG01433.hp2 NA19004.hp1 NA19091.hp2 |
a0002a0004 | a0002c0008a0004c0002 | a0002c0008t0001a0004c0002t0001 | a0002c0008t0001g0286a0002c0008t0001g0290a0004c0002t0001g0048 | 3 | 354 | 0.0085 | -14 | c.300 others(33): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP276_chr1_109100951_109117747 | 109113402 | GAGAGAGA others(7): Show |
G | upstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 404 | 0.0025 | -14 | c.-73 others(23): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 656 | chr1 | TogoVar | ||||||
CFAP276_chr1_109100951_109117747 | 109113416 | AAGAGAGA others(7): Show |
A | upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 404 | 0.0025 | -14 | c.-75 others(23): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 670 | chr1 | TogoVar | ||||||
CFAP298_chr21_32594354_32617377 | 32614244 | CTTTTCTT others(7): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02647.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0031others(1): Show | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0015g0185others(4): Show | 7 | 416 | 0.0168 | -14 | c.-20 others(25): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1868 | chr21 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80504462 | CATATATA others(7): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG03017.hp2 HG03540.hp1 |
a0002 | a0002c0002a0002c0005a0002c0006 | a0002c0002t0001a0002c0005t0001a0002c0006t0001 | a0002c0002t0001g0001a0002c0005t0001g0058a0002c0006t0001g0088 | 3 | 96 | 0.0313 | -14 | c.243 others(33): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80581453 | GATATATA others(7): Show |
G | intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 96 | 0.0104 | -14 | c.243 others(31): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80646984 | AGAGAGTG others(7): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02965.hp2 HG03041.hp2 |
a0001a0002 | a0001c0004a0002c0006 | a0001c0004t0001a0002c0006t0001 | a0001c0004t0001g0022a0002c0006t0001g0082a0002c0006t0001g0088 | 3 | 96 | 0.0313 | -14 | c.333 others(33): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80646986 | AGAGTGTG others(7): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0042others(5): Show | 8 | 96 | 0.0833 | -14 | c.333 others(33): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80646988 | AGTGTGTG others(7): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 96 | 0.0104 | -14 | c.333 others(33): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80669141 | CTTTCTTT others(7): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 96 | 0.0104 | -14 | c.333 others(33): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80729592 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0022 | 1 | 96 | 0.0104 | -14 | 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 | TTATATAT others(7): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG03017.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0033a0002c0002t0001g0001 | 2 | 96 | 0.0208 | -14 | c.334 others(31): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80916252 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0034 | 1 | 96 | 0.0104 | -14 | c.477 others(33): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80955021 | AAAAAAAA others(7): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp1 HG00642.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0002t0001g0005others(6): Show | 9 | 96 | 0.0938 | -14 | c.607 others(31): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 5/5 | chr4 | TogoVar | ||||||
CFAP300_chr11_102042437_102089554 | 102073643 | GGGTGGGG others(7): Show |
G | intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 346 | 0.0029 | -14 | c.436 others(31): Show |
CFAP300 | ENSG00000137691.13 | transcript | ENST00000434758.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CFAP300_chr11_102042437_102089554 | 102085376 | CAAAAAAA others(7): Show |
C | downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0141 | 1 | 346 | 0.0029 | -14 | c.*21 others(25): Show |
CFAP300 | ENSG00000137691.13 | transcript | ENST00000434758.7 | protein_coding | 823 | chr11 | TogoVar | ||||||
CFAP418_chr8_95239913_95274201 | 95244596 | TACACACA others(7): Show |
T | downstream_gene_variant | MODIFIER | HG00735.hp1 HG00741.hp2 NA18522.hp2 others(1): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0020a0002c0002t0023a0002c0003t0012 | a0002c0002t0020g0150a0002c0002t0023g0149a0002c0003t0012g0052 | 4 | 388 | 0.0103 | -14 | c.*30 others(25): Show |
CFAP418 | ENSG00000156172.6 | transcript | ENST00000286688.6 | protein_coding | 316 | chr8 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104130998 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02896.hp2 others(2): Show |
a0001 | a0001c0001a0001c0024 | a0001c0001t0001a0001c0024t0001 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0246others(2): Show | 5 | 306 | 0.0163 | -14 | c.483 others(31): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 37/37 | chr10 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104157769 | TGTGTGTG others(7): Show |
T | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 306 | 0.0033 | -14 | c.354 others(33): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 27/37 | chr10 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104157771 | TGTGTGAG others(7): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 306 | 0.0033 | -14 | c.354 others(33): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 27/37 | chr10 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104157773 | TGTGAGAG others(7): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0071 | 1 | 306 | 0.0033 | -14 | c.354 others(33): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 27/37 | chr10 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104157775 | TGAGAGAG others(7): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01168.hp2 others(10): Show |
a0001a0002a0016 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0114a0001c0001t0001g0164a0001c0001t0001g0197others(10): Show | 13 | 306 | 0.0425 | -14 | c.354 others(33): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 27/37 | chr10 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113328695 | TTAAAAAA others(7): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02809.hp2 |
a0009 | a0009c0011 | a0009c0011t0033 | a0009c0011t0033g0024a0009c0011t0033g0025 | 2 | 348 | 0.0058 | -14 | c.411 others(31): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 26/34 | chr3 | TogoVar | ||||||
CFAP45_chr1_159867364_159905165 | 159878753 | TAAAAAAA others(7): Show |
T | intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 410 | 0.0024 | -14 | c.104 others(33): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
CFAP45_chr1_159867364_159905165 | 159899462 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02818.hp1 HG03209.hp1 |
a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0070a0008c0010t0001g0071 | 2 | 410 | 0.0049 | -14 | c.3+6 others(25): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132804195 | GCCCTGTC others(7): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp2 HG02451.hp1 HG02698.hp1 others(3): Show |
a0001a0007a0008others(3): Show | a0001c0032a0007c0008a0008c0009others(3): Show | a0001c0032t0002a0007c0008t0002a0008c0009t0001others(3): Show | a0001c0032t0002g0038a0007c0008t0002g0095a0008c0009t0001g0123others(3): Show | 6 | 246 | 0.0244 | -14 | c.*42 others(25): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 4196 | chr10 | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35962926 | GGTGTGTG others(7): Show |
G | intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0039 | a0001c0039t0001 | a0001c0039t0001g0032 | 1 | 216 | 0.0046 | -14 | c.141 others(33): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36027110 | GTGATTAT others(7): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00621.hp1 others(58): Show |
a0001a0002a0003others(19): Show | a0001c0029a0002c0002a0002c0013others(31): Show | a0001c0029t0001a0002c0002t0001a0002c0013t0001others(31): Show | a0001c0029t0001g0083a0002c0002t0001g0150a0002c0002t0001g0151others(58): Show | 61 | 216 | 0.2824 | -14 | c.355 others(33): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 22/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36049488 | TCACACAC others(7): Show |
T | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 216 | 0.0046 | -14 | c.421 others(33): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 26/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36077183 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0011 | a0011c0049 | a0011c0049t0001 | a0011c0049t0001g0184 | 1 | 216 | 0.0046 | -14 | c.469 others(33): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 29/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36336244 | GACACACA others(7): Show |
G | intron_variant | MODIFIER | HG03195.hp1 HG03209.hp1 HG04204.hp1 |
a0003a0038a0041 | a0003c0014a0038c0042a0041c0075 | a0003c0014t0001a0038c0042t0001a0041c0075t0001 | a0003c0014t0001g0098a0038c0042t0001g0011a0041c0075t0001g0135 | 3 | 216 | 0.0139 | -14 | c.844 others(35): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 57/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36338035 | ATTTTTTT others(7): Show |
A | intron_variant | MODIFIER | HG04228.hp1 NA21309.hp2 |
a0003a0017 | a0003c0053a0017c0020 | a0003c0053t0001a0017c0020t0001 | a0003c0053t0001g0056a0017c0020t0001g0211 | 2 | 216 | 0.0093 | -14 | c.844 others(35): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 57/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36364901 | CATATATA others(7): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG03195.hp1 HG03491.hp1 others(4): Show |
a0002a0003a0016others(3): Show | a0002c0013a0003c0004a0016c0031others(3): Show | a0002c0013t0001a0003c0004t0001a0016c0031t0002others(3): Show | a0002c0013t0001g0127a0003c0004t0001g0108a0003c0004t0001g0176others(4): Show | 7 | 216 | 0.0324 | -14 | c.902 others(33): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 61/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar |