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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP65_chr2_218997846_219046516 | 219040012 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(3): Show |
a0001a0005a0017 | a0001c0001a0005c0007a0017c0018 | a0001c0001t0001a0005c0007t0001a0017c0018t0001 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0181others(3): Show | 6 | 322 | 0.0186 | 8 | c.-3+ others(21): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 2/34 | chr2 | TogoVar | ||||||
CFAP68_chr11_111874541_111890975 | 111886719 | C | CATATATA others(1): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG01361.hp1 HG02056.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006 | a0001c0001t0002g0001a0001c0001t0004g0001a0001c0001t0006g0001 | 13 | 392 | 0.0332 | 8 | c.*28 others(19): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 745 | chr11 | TogoVar | ||||||
CFAP68_chr11_111874541_111890975 | 111886748 | A | ATATGTAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG02080.hp1 NA18954.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0004g0001 | 4 | 392 | 0.0102 | 8 | c.*28 others(19): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 774 | chr11 | TogoVar | ||||||
CFAP68_chr11_111874541_111890975 | 111886762 | A | ATATGTAT others(1): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 HG02723.hp2 HG02809.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010 | a0001c0001t0002g0004a0001c0001t0004g0010a0001c0001t0004g0024others(1): Show | 8 | 392 | 0.0204 | 8 | c.*28 others(19): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 788 | chr11 | TogoVar | ||||||
CFAP69_chr7_90240174_90316063 | 90250187 | G | GGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01070.hp1 HG01123.hp1 others(4): Show |
a0001a0007a0008 | a0001c0002a0007c0009a0008c0015 | a0001c0002t0002a0007c0009t0002a0008c0015t0002 | a0001c0002t0002g0122a0001c0002t0002g0123a0001c0002t0002g0124others(4): Show | 7 | 338 | 0.0207 | 8 | c.120 others(25): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFAP69_chr7_90240174_90316063 | 90252110 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02109.hp1 HG02145.hp2 others(9): Show |
a0001 | a0001c0002a0001c0004a0001c0012 | a0001c0002t0002a0001c0004t0002a0001c0012t0002 | a0001c0002t0002g0022a0001c0002t0002g0023a0001c0002t0002g0200others(9): Show | 12 | 338 | 0.0355 | 8 | c.121 others(25): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFAP69_chr7_90240174_90316063 | 90304643 | G | GTAGATAG others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01069.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0001a0003c0005others(1): Show | a0001c0003t0001a0002c0001t0001a0002c0001t0007others(2): Show | a0001c0003t0001g0309a0002c0001t0001g0050a0002c0001t0001g0084others(6): Show | 9 | 338 | 0.0266 | 8 | c.218 others(23): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFAP70_chr10_73248762_73363864 | 73279523 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | NA18941.hp1 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136a0001c0001t0001g0189 | 2 | 220 | 0.0091 | 8 | c.245 others(27): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 20/27 | chr10 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73284739 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160a0001c0001t0001g0170 | 2 | 220 | 0.0091 | 8 | c.245 others(27): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 20/27 | chr10 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73287852 | C | CATCTATC others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG01891.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0006others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0006t0001others(3): Show | a0001c0001t0001g0104a0001c0001t0001g0127a0001c0001t0001g0145others(13): Show | 16 | 220 | 0.0727 | 8 | c.244 others(27): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 20/27 | chr10 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73299203 | A | AGTTTGTT others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01346.hp2 HG02965.hp2 others(2): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0017a0004c0004t0001g0018a0004c0004t0001g0019others(2): Show | 5 | 220 | 0.0227 | 8 | c.152 others(25): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 14/27 | chr10 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1945842 | A | AAAAAGAA others(1): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01358.hp2 HG02602.hp2 others(3): Show |
a0001a0008a0010 | a0001c0001a0008c0009a0010c0025 | a0001c0001t0001a0008c0009t0001a0010c0025t0001 | a0001c0001t0001g0096a0001c0001t0001g0209a0001c0001t0001g0216others(3): Show | 6 | 278 | 0.0216 | 8 | c.236 others(25): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 20/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1948412 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02258.hp1 HG02572.hp2 others(7): Show |
a0009a0010a0014others(3): Show | a0009c0053a0010c0025a0014c0029others(4): Show | a0009c0053t0001a0010c0025t0001a0014c0029t0001others(4): Show | a0009c0053t0001g0220a0010c0025t0001g0010a0010c0025t0001g0162others(7): Show | 10 | 278 | 0.0360 | 8 | c.217 others(27): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 18/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1952590 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01243.hp1 HG02109.hp2 others(22): Show |
a0002a0007a0015others(8): Show | a0002c0004a0002c0005a0002c0074others(11): Show | a0002c0004t0002a0002c0005t0002a0002c0074t0002others(11): Show | a0002c0004t0002g0031a0002c0004t0002g0065a0002c0004t0002g0070others(22): Show | 25 | 278 | 0.0899 | 8 | c.217 others(27): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 18/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1967980 | A | AAGAATGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(54): Show |
a0003a0010a0011others(17): Show | a0003c0003a0003c0013a0010c0025others(22): Show | a0003c0003t0001a0003c0003t0003a0003c0013t0001others(24): Show | a0003c0003t0001g0088a0003c0003t0001g0091a0003c0003t0001g0092others(54): Show | 57 | 278 | 0.2050 | 8 | c.124 others(25): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 11/38 | chr1 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132458343 | G | GTGGGGGG others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01106.hp1 others(16): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0024a0001c0001t0001g0038others(16): Show | 19 | 322 | 0.0590 | 8 | c.196 others(27): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132459420 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02895.hp1 HG03669.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0004c0009t0001 | a0001c0001t0001g0081a0001c0001t0001g0120a0001c0001t0001g0121others(3): Show | 6 | 322 | 0.0186 | 8 | c.196 others(27): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132485985 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03041.hp1 NA18941.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0079a0001c0001t0001g0080a0001c0001t0002g0217others(1): Show | 4 | 322 | 0.0124 | 8 | c.196 others(27): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132516590 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01167.hp1 HG01169.hp1 others(30): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0043a0001c0001t0001g0045a0001c0001t0001g0088others(30): Show | 33 | 322 | 0.1025 | 8 | c.524 others(27): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132535711 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02970.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0002a0001c0004t0001a0001c0004t0003others(1): Show | a0001c0001t0002g0320a0001c0004t0001g0147a0001c0004t0003g0285others(1): Show | 4 | 322 | 0.0124 | 8 | c.525 others(25): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132554939 | C | CCCATCCA others(1): Show |
intron_variant | MODIFIER | HG01978.hp1 HG03195.hp1 NA18946.hp1 others(8): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0137a0001c0001t0001g0154a0001c0001t0002g0085others(8): Show | 11 | 322 | 0.0342 | 8 | c.732 others(27): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP91_chr3_119698022_119772102 | 119707732 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02145.hp1 HG02698.hp2 others(1): Show |
a0001a0017 | a0001c0009a0001c0014a0017c0020 | a0001c0009t0001a0001c0014t0016a0017c0020t0026 | a0001c0009t0001g0105a0001c0009t0001g0106a0001c0014t0016g0107others(1): Show | 4 | 386 | 0.0104 | 8 | c.359 others(23): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP91_chr3_119698022_119772102 | 119730601 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02129.hp1 HG03239.hp1 NA18946.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0183a0001c0001t0001g0216a0001c0001t0001g0217others(2): Show | 5 | 386 | 0.0130 | 8 | c.101 others(25): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP91_chr3_119698022_119772102 | 119736269 | T | TTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02615.hp1 HG02723.hp2 others(5): Show |
a0005a0010 | a0005c0008a0010c0015a0010c0021 | a0005c0008t0007a0010c0015t0007a0010c0021t0007 | a0005c0008t0007g0003a0005c0008t0007g0354a0005c0008t0007g0355others(3): Show | 8 | 386 | 0.0207 | 8 | c.134 others(27): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP91_chr3_119698022_119772102 | 119740835 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01358.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001a0001c0002t0002g0038a0001c0002t0002g0039others(4): Show | 9 | 386 | 0.0233 | 8 | c.168 others(25): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP92_chr3_128904873_128999076 | 128979947 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02165.hp1 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0053a0001c0001t0001g0061a0001c0001t0001g0065others(1): Show | 4 | 342 | 0.0117 | 8 | c.668 others(25): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 4/15 | chr3 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69820432 | G | GACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG00673.hp1 others(39): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0091others(39): Show | 42 | 380 | 0.1105 | 8 | c.-44 others(17): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 384 | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69841164 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02083.hp1 HG03491.hp2 others(11): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0186a0001c0001t0001g0187a0001c0001t0001g0188others(11): Show | 14 | 380 | 0.0368 | 8 | c.153 others(25): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69843526 | T | TCCTCCCC others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02895.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0039a0001c0001t0001g0051others(3): Show | 6 | 380 | 0.0158 | 8 | c.153 others(23): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69895335 | G | GTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03491.hp1 HG03492.hp2 others(1): Show |
a0001a0008 | a0001c0001a0008c0014 | a0001c0001t0001a0008c0014t0001 | a0001c0001t0001g0184a0001c0001t0001g0217a0001c0001t0001g0267others(1): Show | 4 | 380 | 0.0105 | 8 | c.507 others(25): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69895363 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02132.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0360a0001c0001t0001g0361a0001c0001t0001g0369others(2): Show | 5 | 380 | 0.0132 | 8 | c.507 others(25): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69895365 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(46): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(3): Show | a0001c0001t0001g0091a0001c0001t0001g0123a0001c0001t0001g0367others(45): Show | 49 | 380 | 0.1290 | 8 | c.507 others(25): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69895367 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01943.hp2 HG02273.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0001t0001g0101others(18): Show | 21 | 380 | 0.0553 | 8 | c.507 others(25): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP97D2_chr13_114174257_114228085 | 114210855 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00733.hp2 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0096a0001c0001t0001g0115a0001c0001t0001g0129others(45): Show | 54 | 400 | 0.1350 | 8 | c.290 others(27): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CFAP97_chr4_185154665_185209000 | 185198453 | A | AAAAGAAG others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp2 others(156): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0005a0001c0016others(6): Show | a0001c0003t0004a0001c0005t0005a0001c0016t0005others(10): Show | a0001c0003t0004g0032a0001c0003t0004g0033a0001c0003t0004g0034others(132): Show | 159 | 350 | 0.4543 | 8 | c.-17 others(25): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
CFAP99_chr4_2413955_2468002 | 2415451 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02602.hp2 HG03491.hp2 others(5): Show |
a0001a0002a0006others(1): Show | a0001c0002a0001c0004a0002c0001others(2): Show | a0001c0002t0001a0001c0004t0001a0002c0001t0001others(2): Show | a0001c0002t0001g0092a0001c0002t0001g0093a0001c0004t0001g0303others(5): Show | 8 | 350 | 0.0229 | 8 | c.-36 others(19): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 3503 | chr4 | TogoVar | ||||||
CFAP99_chr4_2413955_2468002 | 2448020 | A | AATGGATG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(93): Show |
a0001a0003a0004others(5): Show | a0001c0002a0001c0003a0001c0004others(14): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(16): Show | a0001c0002t0001g0004a0001c0002t0001g0011a0001c0002t0001g0053others(84): Show | 96 | 350 | 0.2743 | 8 | c.643 others(25): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFDP1_chr16_75288710_75438503 | 75297145 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG01496.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0061a0001c0001t0001g0187a0001c0001t0001g0203others(6): Show | 9 | 314 | 0.0287 | 8 | c.810 others(25): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75303365 | C | CTAAATAA others(1): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG04199.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0101a0001c0001t0001g0108a0001c0001t0001g0109others(1): Show | 4 | 314 | 0.0127 | 8 | c.809 others(25): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75303399 | A | AAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01884.hp1 HG02132.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189a0001c0001t0001g0218a0001c0001t0001g0220others(3): Show | 6 | 314 | 0.0191 | 8 | c.809 others(25): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75303399 | A | AAATGAAT others(1): Show |
intron_variant | MODIFIER | HG02523.hp1 HG02698.hp1 NA18941.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0012others(4): Show | 7 | 314 | 0.0223 | 8 | c.809 others(25): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75363942 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0027a0001c0001t0001g0107a0001c0001t0001g0108others(48): Show | 51 | 314 | 0.1624 | 8 | c.650 others(27): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75384852 | C | CAATATAT others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02602.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0140a0001c0001t0002g0153a0001c0001t0002g0165 | 3 | 314 | 0.0096 | 8 | c.650 others(27): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFD_chr19_854664_868641 | 857081 | T | TAAATAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01934.hp1 HG02083.hp1 HG02129.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0063others(9): Show | 14 | 287 | 0.0488 | 8 | c.-26 others(19): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 2582 | chr19 | TogoVar | ||||||
CFD_chr19_854664_868641 | 864060 | A | ACACACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG01257.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0017a0001c0001t0001g0040others(1): Show | 5 | 287 | 0.0174 | 8 | c.*82 others(17): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 420 | chr19 | TogoVar | ||||||
CFD_chr19_854664_868641 | 864060 | A | ACACACGC others(1): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0068a0001c0001t0001g0071 | 5 | 287 | 0.0174 | 8 | c.*82 others(17): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 420 | chr19 | TogoVar | ||||||
CFHR1_chr1_196814731_196837189 | 196824748 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG00639.hp2 others(22): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0002a0001c0003t0002a0002c0001t0001 | a0001c0002t0002g0011a0001c0002t0002g0015a0001c0002t0002g0021others(11): Show | 25 | 275 | 0.0909 | 8 | c.59- others(21): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR1_chr1_196814731_196837189 | 196832784 | A | ATGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG03486.hp1 NA19240.hp1 |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0016 | 3 | 275 | 0.0109 | 8 | c.*78 others(17): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 596 | chr1 | TogoVar | ||||||
CFHR2_chr1_196938738_196964622 | 196945777 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 HG03669.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0091a0001c0001t0001g0098 | 6 | 370 | 0.0162 | 8 | c.58+ others(23): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR3_chr1_196769840_196800407 | 196795322 | T | TACTCATT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02523.hp1 NA18945.hp1 NA18969.hp1 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0010 | 5 | 261 | 0.0192 | 8 | c.*18 others(19): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 6/6 | 1820 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |