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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEPT1_chr1_111135223_111190104 | 111143660 | ACATTTTC | A | intron_variant | MODIFIER | HG01099.hp1 HG02647.hp2 HG03471.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0233a0001c0001t0001g0234a0002c0004t0001g0239 | 3 | 410 | 0.0073 | -7 | c.-74 others(24): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181654733 | AATATATC | A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(33): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(9): Show | a0001c0002t0002g0116a0001c0002t0002g0124a0001c0002t0003g0098others(32): Show | 36 | 298 | 0.1208 | -7 | c.238 others(24): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46716940 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00609.hp1 others(33): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0014a0001c0001t0030a0001c0001t0056others(22): Show | a0001c0001t0014g0291a0001c0001t0014g0292a0001c0001t0014g0294others(33): Show | 36 | 340 | 0.1059 | -7 | c.379 others(24): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 3/12 | chr22 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46737300 | AAAAAAAC | A | intron_variant | MODIFIER | HG00323.hp2 HG01243.hp1 HG01243.hp2 others(9): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0006a0001c0001t0007a0001c0001t0011others(6): Show | a0001c0001t0006g0274a0001c0001t0006g0281a0001c0001t0007g0283others(9): Show | 12 | 340 | 0.0353 | -7 | c.142 others(22): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 1/12 | chr22 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100405242 | AAAAAAAC | A | intron_variant | MODIFIER | HG00140.hp2 HG01099.hp2 HG01175.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(3): Show | a0001c0001t0002g0029a0001c0001t0002g0080a0001c0001t0002g0094others(17): Show | 20 | 362 | 0.0553 | -7 | c.100 others(26): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100497557 | AAGAAATT | A | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00735.hp2 others(11): Show |
a0001 | a0001c0003 | a0001c0003t0007a0001c0003t0010a0001c0003t0022 | a0001c0003t0007g0353a0001c0003t0007g0354a0001c0003t0007g0355others(11): Show | 14 | 362 | 0.0387 | -7 | c.173 others(24): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3/11 | chr15 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100497888 | CACACACA | C | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02486.hp1 others(5): Show |
a0001a0002 | a0001c0003a0001c0006a0002c0002 | a0001c0003t0002a0001c0006t0003a0002c0002t0009others(2): Show | a0001c0003t0002g0311a0001c0006t0003g0160a0002c0002t0009g0312others(5): Show | 8 | 362 | 0.0221 | -7 | c.173 others(24): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3/11 | chr15 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8236695 | AAAAAAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(234): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0006others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0117a0001c0001t0001g0202a0001c0001t0001g0204others(233): Show | 237 | 418 | 0.5670 | -7 | c.-1- others(24): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CERS4_chr19_8204370_8267421 | 8251813 | ATGTGAGC | A | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG01081.hp2 others(36): Show |
a0001a0003a0004 | a0001c0001a0001c0008a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0408a0001c0001t0002g0003a0001c0001t0002g0135others(36): Show | 39 | 418 | 0.0933 | -7 | c.173 others(22): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CERS4_chr19_8204370_8267421 | 8258677 | TATTAAAA | T | intron_variant | MODIFIER | HG00733.hp2 HG01070.hp1 HG01071.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0042a0001c0002t0001g0075a0001c0002t0001g0098others(5): Show | 8 | 418 | 0.0191 | -7 | c.848 others(22): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CERS4_chr19_8204370_8267421 | 8266863 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01070.hp1 HG01071.hp1 others(6): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0004 | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(3): Show | a0001c0002t0001g0042a0001c0002t0001g0075a0001c0002t0001g0396others(6): Show | 9 | 418 | 0.0215 | -7 | c.*47 others(18): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4443 | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8267294 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG01943.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0004 | a0001c0001t0002g0312a0001c0001t0002g0338a0001c0001t0002g0360others(3): Show | 6 | 418 | 0.0144 | -7 | c.*51 others(18): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4874 | chr19 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50148904 | CAAAAAAA | C | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02572.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(1): Show | a0001c0001t0001g0079a0001c0001t0001g0081a0001c0001t0001g0084others(11): Show | 14 | 320 | 0.0438 | -7 | c.198 others(24): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50148922 | AAAAAAAT | A | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01069.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0086a0001c0001t0001g0110others(25): Show | 29 | 320 | 0.0906 | -7 | c.198 others(24): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50148924 | AAAAATAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0091others(50): Show | 55 | 320 | 0.1719 | -7 | c.198 others(24): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50148926 | AAATATAT | A | intron_variant | MODIFIER | HG02074.hp1 HG02145.hp2 HG03453.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010 | a0001c0001t0001g0125a0001c0001t0001g0144a0001c0001t0001g0163others(6): Show | 9 | 320 | 0.0281 | -7 | c.198 others(24): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168645089 | TTAAAAAA | T | intron_variant | MODIFIER | HG01261.hp1 HG01884.hp1 HG02257.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(1): Show | a0001c0001t0002g0016a0001c0001t0002g0017a0001c0001t0008g0165others(4): Show | 7 | 176 | 0.0398 | -7 | c.465 others(26): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168763178 | CCTTTTTT | C | intron_variant | MODIFIER | HG02451.hp2 HG02622.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0015a0001c0001t0010g0033a0001c0001t0010g0065others(2): Show | 5 | 176 | 0.0284 | -7 | c.846 others(24): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CETP_chr16_56956950_56988845 | 56967900 | AGTGAACT | A | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 HG02818.hp1 others(1): Show |
a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0090a0002c0009t0001g0091a0002c0009t0001g0177others(1): Show | 4 | 462 | 0.0087 | -7 | c.234 others(24): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CFAP119_chr16_30752423_30767062 | 30757171 | GCTCTGGC | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(249): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(29): Show | 252 | 266 | 0.9474 | -7 | c.*29 others(16): Show |
CFAP119 | ENSG00000196118.12 | transcript | ENST00000543610.6 | protein_coding | 251 | chr16 | TogoVar | ||||||
CFAP126_chr1_161359733_161372876 | 161371676 | TTTTGTTG | T | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02886.hp2 HG02895.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 8 | 350 | 0.0229 | -7 | c.-38 others(18): Show |
CFAP126 | ENSG00000188931.4 | transcript | ENST00000367974.2 | protein_coding | 3801 | chr1 | TogoVar | ||||||
CFAP141_chr1_154194085_154211333 | 154203171 | AAATATAT | A | intron_variant | MODIFIER | HG02723.hp2 HG03225.hp2 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0142 | 3 | 372 | 0.0081 | -7 | c.74+ others(22): Show |
CFAP141 | ENSG00000163263.7 | transcript | ENST00000368525.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
CFAP157_chr9_127701988_127721002 | 127720900 | TTCCTCCC | T | downstream_gene_variant | MODIFIER | NA18939.hp1 NA18960.hp2 NA18982.hp1 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0002 | 3 | 354 | 0.0085 | -7 | c.*69 others(18): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4899 | chr9 | TogoVar | ||||||
CFAP20_chr16_58108592_58134381 | 58123595 | CAAAAAAA | C | intron_variant | MODIFIER | HG02602.hp2 HG03491.hp2 HG03654.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011 | a0001c0001t0005g0039a0001c0001t0005g0077a0001c0001t0005g0127others(2): Show | 6 | 400 | 0.0150 | -7 | c.84+ others(22): Show |
CFAP20 | ENSG00000070761.8 | transcript | ENST00000262498.8 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169648162 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp2 others(87): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(76): Show | 90 | 390 | 0.2308 | -7 | c.131 others(26): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169653030 | ATATATAT | A | intron_variant | MODIFIER | HG02083.hp2 HG04115.hp1 HG04228.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146a0001c0001t0001g0204a0001c0001t0001g0225others(1): Show | 4 | 390 | 0.0103 | -7 | c.959 others(24): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169669774 | TAAAAAAA | T | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00733.hp1 others(23): Show |
a0001a0011 | a0001c0001a0011c0014 | a0001c0001t0003a0011c0014t0003 | a0001c0001t0003g0092a0001c0001t0003g0103a0001c0001t0003g0104others(23): Show | 26 | 390 | 0.0667 | -7 | c.662 others(24): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 4/8 | chr2 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 122005818 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02145.hp2 others(4): Show |
a0003a0006 | a0003c0003a0006c0011 | a0003c0003t0001a0006c0011t0001 | a0003c0003t0001g0330a0003c0003t0001g0331a0003c0003t0001g0348others(4): Show | 7 | 354 | 0.0198 | -7 | c.*20 others(18): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 1900 | chr12 | TogoVar | ||||||
CFAP276_chr1_109100951_109117747 | 109113415 | AAAGAGAG | A | upstream_gene_variant | MODIFIER | HG01261.hp2 HG03017.hp2 NA18980.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0014 | 5 | 404 | 0.0124 | -7 | c.-74 others(16): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 669 | chr1 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80454214 | GAGACTCA | G | intron_variant | MODIFIER | NA18984.hp1 NA19060.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008a0002c0002t0001g0012 | 2 | 96 | 0.0208 | -7 | c.242 others(26): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80626873 | CTGGGACA | C | intron_variant | MODIFIER | HG02280.hp2 HG02886.hp1 HG02922.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0009t0002a0002c0002t0001 | a0001c0001t0001g0018a0001c0001t0001g0048a0001c0009t0002g0015others(2): Show | 5 | 96 | 0.0521 | -7 | c.333 others(26): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80654784 | CTTTTTTT | C | intron_variant | MODIFIER | HG02280.hp2 HG02886.hp1 HG02922.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0009t0002a0002c0002t0001 | a0001c0001t0001g0018a0001c0001t0001g0048a0001c0009t0002g0015others(2): Show | 5 | 96 | 0.0521 | -7 | c.333 others(26): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80669145 | CTTTCTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG01168.hp1 HG02735.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0001a0001c0004t0001a0002c0005t0001 | a0001c0001t0001g0023a0001c0004t0001g0094a0001c0004t0001g0095others(1): Show | 4 | 96 | 0.0417 | -7 | c.333 others(26): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80937312 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp1 HG03017.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0009a0002c0002t0001g0001a0002c0002t0001g0003others(4): Show | 7 | 96 | 0.0729 | -7 | c.477 others(24): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP36_chr2_55514718_55550079 | 55524422 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(93): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0015others(43): Show | 96 | 400 | 0.2400 | -7 | c.282 others(22): Show |
CFAP36 | ENSG00000163001.12 | transcript | ENST00000349456.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFAP44_chr3_113281930_113446493 | 113302457 | TAAAAAAA | T | intron_variant | MODIFIER | HG00408.hp1 NA18939.hp2 NA18944.hp2 others(14): Show |
a0005a0027 | a0005c0005a0027c0044 | a0005c0005t0010a0005c0005t0012a0005c0005t0015others(4): Show | a0005c0005t0010g0007a0005c0005t0010g0008a0005c0005t0010g0009others(14): Show | 17 | 348 | 0.0489 | -7 | c.507 others(26): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 32/34 | chr3 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113328695 | TTAAAAAA | T | intron_variant | MODIFIER | HG02486.hp1 HG02738.hp1 HG02965.hp2 others(3): Show |
a0003a0004a0006 | a0003c0019a0004c0004a0004c0043others(1): Show | a0003c0019t0014a0004c0004t0012a0004c0043t0057others(2): Show | a0003c0019t0014g0166a0003c0019t0014g0167a0004c0004t0012g0287others(3): Show | 6 | 348 | 0.0172 | -7 | c.411 others(24): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 26/34 | chr3 | TogoVar | ||||||
CFAP45_chr1_159867364_159905165 | 159878753 | TAAAAAAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01099.hp2 others(19): Show |
a0001a0003a0008 | a0001c0001a0003c0004a0008c0010 | a0001c0001t0001a0003c0004t0001a0008c0010t0001 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0023others(10): Show | 22 | 410 | 0.0537 | -7 | c.104 others(26): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132821372 | CTGTGTGT | C | intron_variant | MODIFIER | HG00544.hp2 NA19004.hp2 NA20905.hp2 |
a0028a0071 | a0028c0027a0071c0098 | a0028c0027t0002a0071c0098t0002 | a0028c0027t0002g0028a0028c0027t0002g0077a0071c0098t0002g0023 | 3 | 246 | 0.0122 | -7 | c.711 others(26): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132821601 | CTGTGTGT | C | intron_variant | MODIFIER | HG00544.hp2 HG01261.hp1 NA19004.hp2 others(1): Show |
a0009a0028a0071 | a0009c0043a0028c0027a0071c0098 | a0009c0043t0001a0028c0027t0002a0071c0098t0002 | a0009c0043t0001g0155a0028c0027t0002g0028a0028c0027t0002g0077others(1): Show | 4 | 246 | 0.0163 | -7 | c.711 others(26): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132823613 | GTGTGTGC | G | intron_variant | MODIFIER | HG01069.hp2 HG01257.hp2 HG02630.hp1 |
a0012a0070 | a0012c0025a0070c0074 | a0012c0025t0002a0070c0074t0002 | a0012c0025t0002g0007a0012c0025t0002g0014a0070c0074t0002g0006 | 3 | 246 | 0.0122 | -7 | c.711 others(26): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132823760 | GTGTGTGC | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(7): Show |
a0011a0019a0035others(3): Show | a0011c0010a0019c0020a0035c0057others(3): Show | a0011c0010t0001a0019c0020t0001a0035c0057t0001others(3): Show | a0011c0010t0001g0197a0011c0010t0001g0198a0011c0010t0001g0202others(7): Show | 10 | 246 | 0.0407 | -7 | c.711 others(26): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132946533 | TCAGCACC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(96): Show |
a0002a0004a0005others(26): Show | a0002c0002a0002c0003a0002c0023others(39): Show | a0002c0002t0001a0002c0003t0001a0002c0023t0001others(39): Show | a0002c0002t0001g0126a0002c0002t0001g0141a0002c0002t0001g0159others(96): Show | 99 | 246 | 0.4024 | -7 | c.-40 others(18): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 3964 | chr10 | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35962922 | ATGTGGTG | A | intron_variant | MODIFIER | HG02602.hp1 | a0039 | a0039c0045 | a0039c0045t0001 | a0039c0045t0001g0065 | 1 | 216 | 0.0046 | -7 | c.141 others(26): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36070496 | CTTTTTTT | C | intron_variant | MODIFIER | HG02572.hp1 HG02809.hp1 HG03195.hp1 others(1): Show |
a0011a0016a0037others(1): Show | a0011c0030a0016c0031a0037c0057others(1): Show | a0011c0030t0001a0016c0031t0002a0037c0057t0001others(1): Show | a0011c0030t0001g0185a0016c0031t0002g0202a0037c0057t0001g0177others(1): Show | 4 | 216 | 0.0185 | -7 | c.431 others(26): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 27/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36074808 | TGATGACC | T | intron_variant | MODIFIER | HG01255.hp1 HG02630.hp2 HG02818.hp2 others(2): Show |
a0014a0026a0049 | a0014c0016a0014c0070a0026c0069others(1): Show | a0014c0016t0001a0014c0070t0001a0026c0069t0001others(1): Show | a0014c0016t0001g0193a0014c0016t0001g0200a0014c0070t0001g0138others(2): Show | 5 | 216 | 0.0232 | -7 | c.469 others(26): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 29/63 | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36077183 | CTTTTTTT | C | intron_variant | MODIFIER | HG02055.hp1 HG02970.hp1 HG03453.hp2 |
a0005a0030 | a0005c0005a0030c0033 | a0005c0005t0001a0030c0033t0001 | a0005c0005t0001g0006a0005c0005t0001g0013a0030c0033t0001g0016 | 3 | 216 | 0.0139 | -7 | c.469 others(26): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 29/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36265556 | CTTATTAT | C | intron_variant | MODIFIER | HG02818.hp2 | a0014 | a0014c0070 | a0014c0070t0001 | a0014c0070t0001g0138 | 1 | 216 | 0.0046 | -7 | c.744 others(28): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 49/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36338035 | ATTTTTTT | A | intron_variant | MODIFIER | NA20129.hp1 | a0051 | a0051c0059 | a0051c0059t0001 | a0051c0059t0001g0215 | 1 | 216 | 0.0046 | -7 | c.844 others(28): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 57/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9636192 | AAAGAAAG | A | intron_variant | MODIFIER | HG01433.hp1 HG02056.hp1 HG02080.hp2 others(10): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0011a0001c0002t0001g0032a0001c0002t0001g0033others(10): Show | 13 | 316 | 0.0411 | -7 | c.147 others(24): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |