view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP65_chr2_218997846_219046516 | 219022077 | C | CTTCCCTC others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02622.hp1 others(2): Show |
a0016a0024a0028others(1): Show | a0016c0055a0016c0056a0024c0046others(2): Show | a0016c0055t0001a0016c0056t0001a0024c0046t0001others(2): Show | a0016c0055t0001g0154 a0016c0056t0001g0043 a0024c0046t0001g0171 others(2): Show |
5 | 322 | 0.0155 | 20 | c.297 others(35): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 17/34 | chr2 | TogoVar | |||||||
CFAP68_chr11_111874541_111890975 | 111886762 | A | ATATATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 | 1 | 392 | 0.0026 | 20 | c.*28 others(31): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 788 | chr11 | TogoVar | |||||||
CFAP68_chr11_111874541_111890975 | 111886762 | A | ATGTATGT others(13): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 HG02896.hp2 NA18945.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0001 |
5 | 392 | 0.0128 | 20 | c.*28 others(31): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 788 | chr11 | TogoVar | |||||||
CFAP69_chr7_90240174_90316063 | 90250187 | G | GGAGAGAG others(13): Show |
intron_variant | MODIFIER | HG01074.hp1 HG04228.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0148 a0001c0002t0002g0149 |
2 | 338 | 0.0059 | 20 | c.120 others(37): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73350316 | A | ATAACATA others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(86): Show |
a0002a0003a0004others(7): Show | a0002c0002a0002c0006a0002c0014others(9): Show | a0002c0002t0001a0002c0006t0001a0002c0014t0001others(9): Show | a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0002t0001g0026 others(86): Show |
89 | 220 | 0.4046 | 20 | c.251 others(37): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 3/27 | chr10 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1935867 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0012 | a0012c0015 | a0012c0015t0001 | a0012c0015t0001g0041 | 1 | 278 | 0.0036 | 20 | c.301 others(39): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 25/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1952590 | A | AAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03139.hp2 |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0058 a0003c0004t0002g0074 |
2 | 278 | 0.0072 | 20 | c.217 others(39): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 18/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1969184 | T | TGCCCAGC others(13): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0020 | 1 | 278 | 0.0036 | 20 | c.104 others(37): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 10/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1971351 | A | ATGCACAC others(13): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0056 | a0056c0038 | a0056c0038t0004 | a0056c0038t0004g0252 | 1 | 278 | 0.0036 | 20 | c.889 others(35): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 9/38 | chr1 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132559346 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01106.hp2 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0043 a0001c0001t0001g0044 others(34): Show |
37 | 322 | 0.1149 | 20 | c.733 others(39): 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(13): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02083.hp2 HG02683.hp2 others(18): Show |
a0001a0006 | a0001c0002a0001c0007a0006c0010 | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(3): Show | a0001c0002t0002g0006 a0001c0002t0002g0065 a0001c0002t0002g0068 others(16): Show |
21 | 386 | 0.0544 | 20 | c.359 others(35): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119738332 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01106.hp1 HG01255.hp2 others(19): Show |
a0001a0016 | a0001c0001a0016c0019 | a0001c0001t0001a0001c0001t0011a0016c0019t0001 | a0001c0001t0001g0009 a0001c0001t0001g0155 a0001c0001t0001g0157 others(18): Show |
22 | 386 | 0.0570 | 20 | c.146 others(37): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128931472 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02055.hp2 HG02056.hp2 others(27): Show |
a0002a0003a0011others(2): Show | a0002c0004a0003c0006a0011c0018others(2): Show | a0002c0004t0002a0003c0006t0002a0011c0018t0002others(2): Show | a0002c0004t0002g0008 a0002c0004t0002g0081 a0002c0004t0002g0297 others(26): Show |
30 | 342 | 0.0877 | 20 | c.275 others(39): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 12/15 | chr3 | TogoVar | |||||||
CFAP92_chr3_128904873_128999076 | 128932378 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG02040.hp1 HG03704.hp2 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0081 a0002c0004t0002g0311 |
2 | 342 | 0.0059 | 20 | c.275 others(37): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 12/15 | chr3 | TogoVar | |||||||
CFAP95_chr9_69815817_69911227 | 69841164 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01070.hp1 HG01358.hp2 others(17): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0138 a0001c0001t0001g0220 others(16): Show |
20 | 380 | 0.0526 | 20 | c.153 others(37): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69841164 | T | TTTTATAT others(13): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01975.hp1 NA18961.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0128 others(1): Show |
4 | 380 | 0.0105 | 20 | c.153 others(37): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69843514 | T | TCCCCCCC others(13): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 380 | 0.0026 | 20 | c.153 others(37): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69843514 | T | TCCCCCCC others(13): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 380 | 0.0026 | 20 | c.153 others(37): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP97_chr4_185154665_185209000 | 185193887 | G | GATAAATA others(13): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01891.hp1 HG01993.hp1 others(16): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0026 a0002c0002t0001g0189 a0002c0002t0001g0190 others(15): Show |
19 | 350 | 0.0543 | 20 | c.-16 others(37): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75297145 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 a0001c0001t0001g0279 |
2 | 314 | 0.0064 | 20 | c.810 others(37): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75297146 | T | TTTTGTGT others(13): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 a0001c0001t0001g0196 |
2 | 314 | 0.0064 | 20 | c.810 others(37): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75303365 | C | CTAAATAA others(13): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 314 | 0.0032 | 20 | c.809 others(37): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75303400 | A | AATGAATG others(13): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0273 | 1 | 314 | 0.0032 | 20 | c.809 others(37): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75303400 | A | AATGTATG others(13): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG01256.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0197 others(11): Show |
14 | 314 | 0.0446 | 20 | c.809 others(37): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349682 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG03453.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 a0001c0001t0001g0291 |
2 | 314 | 0.0064 | 20 | c.651 others(39): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349684 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | NA18952.hp2 NA19068.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 a0001c0001t0001g0231 a0001c0001t0001g0232 |
3 | 314 | 0.0096 | 20 | c.651 others(39): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349686 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 a0001c0001t0001g0297 a0001c0001t0001g0301 |
3 | 314 | 0.0096 | 20 | c.651 others(39): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349698 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 314 | 0.0032 | 20 | c.651 others(39): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349698 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01243.hp2 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 others(3): Show |
6 | 314 | 0.0191 | 20 | c.651 others(39): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349698 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01167.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0122 a0001c0001t0004g0148 |
2 | 314 | 0.0064 | 20 | c.651 others(39): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75393737 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0069 | 1 | 314 | 0.0032 | 20 | c.650 others(37): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFD_chr19_854664_868641 | 864042 | C | CCACACAC others(13): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG01978.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0014 others(5): Show |
21 | 287 | 0.0732 | 20 | c.*80 others(29): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 402 | chr19 | TogoVar | |||||||
CFD_chr19_854664_868641 | 864060 | A | ACACACAC others(13): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 NA19055.hp2 NA20300.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0007 | a0001c0001t0002g0002 a0001c0003t0007g0011 |
3 | 287 | 0.0105 | 20 | c.*82 others(29): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 420 | chr19 | TogoVar | |||||||
CFD_chr19_854664_868641 | 864060 | A | ACACACAC others(13): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 HG03471.hp1 NA18906.hp2 |
a0001 | a0001c0003 | a0001c0003t0007a0001c0003t0009 | a0001c0003t0007g0011 a0001c0003t0009g0011 |
3 | 287 | 0.0105 | 20 | c.*82 others(29): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 420 | chr19 | TogoVar | |||||||
CFD_chr19_854664_868641 | 866533 | T | TCCCCGTC others(13): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0080 | 1 | 287 | 0.0035 | 20 | c.*32 others(31): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 2893 | chr19 | TogoVar | |||||||
CFHR1_chr1_196814731_196837189 | 196824748 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG00741.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0012 a0001c0003t0002g0039 |
5 | 275 | 0.0182 | 20 | c.59- others(33): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFHR3_chr1_196769840_196800407 | 196772694 | G | GTATATAT others(13): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 HG01975.hp1 HG02015.hp2 others(18): Show |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0008a0002c0001t0014 | a0002c0001t0002g0004 a0002c0001t0002g0005 a0002c0001t0002g0008 others(13): Show |
21 | 261 | 0.0805 | 20 | c.-21 others(31): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 2145 | chr1 | TogoVar | |||||||
CFHR5_chr1_196972556_197014678 | 196976799 | C | CTTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0130 | 1 | 356 | 0.0028 | 20 | c.-86 others(29): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 756 | chr1 | TogoVar | |||||||
CFH_chr1_196647043_196752504 | 196658407 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03225.hp2 NA18948.hp2 others(1): Show |
a0001a0012 | a0001c0001a0001c0008a0012c0012 | a0001c0001t0001a0001c0008t0001a0012c0012t0001 | a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0008t0001g0174 others(1): Show |
4 | 308 | 0.0130 | 20 | c.58+ others(35): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196692897 | C | CCCTTCCT others(13): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02647.hp2 HG02723.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(4): Show |
7 | 308 | 0.0227 | 20 | c.133 others(39): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196692901 | C | CCCTTCCT others(13): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 308 | 0.0033 | 20 | c.133 others(39): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714668 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0020 | a0020c0021 | a0020c0021t0001 | a0020c0021t0001g0287 | 1 | 308 | 0.0033 | 20 | c.151 others(37): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714668 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0088 | 1 | 308 | 0.0033 | 20 | c.151 others(37): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714701 | A | AGAGAGAG others(13): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 308 | 0.0033 | 20 | c.151 others(37): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109756888 | G | GGAAAGAA others(13): Show |
intron_variant | MODIFIER | HG02148.hp1 NA18941.hp2 NA19063.hp2 |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0001a0004c0005t0001 | a0001c0002t0001g0084 a0001c0002t0001g0107 a0004c0005t0001g0101 |
3 | 354 | 0.0085 | 20 | c.904 others(35): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFLAR_chr2_201111164_201181687 | 201114013 | G | GATATATA others(13): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0098 | a0001c0001t0098g0007 | 1 | 234 | 0.0043 | 20 | c.-26 others(31): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2150 | chr2 | TogoVar | |||||||
CFLAR_chr2_201111164_201181687 | 201114046 | A | ATATATAT others(13): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0007 | 1 | 234 | 0.0043 | 20 | c.-25 others(31): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2117 | chr2 | TogoVar | |||||||
CFLAR_chr2_201111164_201181687 | 201134640 | T | TTAAAATA others(13): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0032 | 1 | 234 | 0.0043 | 20 | c.388 others(37): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201173669 | G | GTTATTTT others(13): Show |
3_prime_UTR_variant | MODIFIER | HG02615.hp2 HG02647.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0064a0001c0001t0075a0001c0001t0078others(3): Show | a0001c0001t0064g0044 a0001c0001t0075g0204 a0001c0001t0078g0007 others(3): Show |
6 | 234 | 0.0256 | 20 | c.*97 others(31): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 10/10 | 9714 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117499429 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 202 | 0.0050 | 20 | c.54- others(35): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |