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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP77_chr9_132405211_132578319 | 132530302 | C | CTCTCTCT others(3): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 322 | 0.0031 | 10 | c.525 others(27): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132559346 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030a0001c0001t0002g0265 | 2 | 322 | 0.0062 | 10 | c.733 others(29): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132571854 | C | CAGATTCA others(3): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0109 | 1 | 322 | 0.0031 | 10 | c.733 others(25): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 5/5 | chr9 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119707732 | G | GATATATA others(3): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03927.hp1 |
a0001 | a0001c0009a0001c0014 | a0001c0009t0005a0001c0014t0016 | a0001c0009t0005g0103a0001c0014t0016g0108 | 2 | 386 | 0.0052 | 10 | c.359 others(25): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP91_chr3_119698022_119772102 | 119722195 | A | AAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02258.hp1 NA18522.hp1 |
a0005a0010 | a0005c0008a0010c0015 | a0005c0008t0007a0010c0015t0007 | a0005c0008t0007g0356a0010c0015t0007g0159 | 2 | 386 | 0.0052 | 10 | c.683 others(27): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 6/17 | chr3 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119730601 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG01943.hp1 others(6): Show |
a0001a0004a0015 | a0001c0001a0004c0006a0015c0016 | a0001c0001t0001a0004c0006t0001a0015c0016t0001 | a0001c0001t0001g0018a0001c0001t0001g0178a0001c0001t0001g0203others(6): Show | 9 | 386 | 0.0233 | 10 | c.101 others(27): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP91_chr3_119698022_119772102 | 119738332 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 386 | 0.0026 | 10 | c.146 others(27): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP91_chr3_119698022_119772102 | 119740835 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG01069.hp2 others(35): Show |
a0001a0017 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0001t0003g0111a0001c0001t0003g0114a0001c0001t0003g0124others(33): Show | 38 | 386 | 0.0985 | 10 | c.168 others(27): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP92_chr3_128904873_128999076 | 128931472 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(157): Show |
a0001a0004a0005others(6): Show | a0001c0001a0001c0003a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0009others(154): Show | 160 | 342 | 0.4678 | 10 | c.275 others(29): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 12/15 | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128932378 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02572.hp2 HG02970.hp1 others(3): Show |
a0003a0012 | a0003c0006a0012c0018 | a0003c0006t0002a0012c0018t0002 | a0003c0006t0002g0180a0003c0006t0002g0181a0003c0006t0002g0182others(3): Show | 6 | 342 | 0.0175 | 10 | c.275 others(27): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 12/15 | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128953615 | C | CTCCCTCT others(3): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02055.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0144a0001c0001t0003g0145a0001c0001t0003g0146others(3): Show | 6 | 342 | 0.0175 | 10 | c.135 others(29): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 9/15 | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128979947 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 342 | 0.0029 | 10 | c.668 others(27): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 4/15 | chr3 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69820432 | G | GACACACA others(3): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01109.hp1 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0173a0001c0001t0001g0206others(25): Show | 28 | 380 | 0.0737 | 10 | c.-44 others(19): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 384 | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69832620 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02109.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0372 | 2 | 380 | 0.0053 | 10 | c.152 others(29): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69841164 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | HG00673.hp1 HG03041.hp2 HG03453.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0185a0001c0001t0001g0252a0001c0001t0001g0325others(5): Show | 8 | 380 | 0.0211 | 10 | c.153 others(27): 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(3): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 380 | 0.0026 | 10 | c.153 others(27): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69843502 | C | CTCCTCCT others(3): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 380 | 0.0026 | 10 | c.153 others(27): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69843511 | T | TCCTCCCC others(3): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03669.hp2 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0074 | 3 | 380 | 0.0079 | 10 | c.153 others(27): 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(3): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 380 | 0.0026 | 10 | c.153 others(27): 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(3): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG04204.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145a0001c0001t0001g0147a0001c0001t0001g0274others(1): Show | 4 | 380 | 0.0105 | 10 | c.507 others(27): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69895361 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 380 | 0.0026 | 10 | c.507 others(27): 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(3): Show |
intron_variant | MODIFIER | HG02523.hp1 HG03831.hp1 NA18941.hp1 others(12): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0010a0001c0002t0001g0255a0001c0002t0001g0256others(12): Show | 15 | 380 | 0.0395 | 10 | c.507 others(27): 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(3): Show |
intron_variant | MODIFIER | NA18954.hp1 NA19068.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0305a0001c0002t0001g0308 | 2 | 380 | 0.0053 | 10 | c.507 others(27): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69895369 | C | CTCTCTCT others(3): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 380 | 0.0026 | 10 | c.507 others(27): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69895369 | C | CTCTGTGT others(3): Show |
intron_variant | MODIFIER | HG03927.hp1 NA18965.hp1 NA18966.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0002c0008t0001 | a0001c0001t0001g0002a0001c0001t0001g0023a0001c0001t0001g0040others(4): Show | 8 | 380 | 0.0211 | 10 | c.507 others(27): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69895369 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp2 others(69): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0010 | a0001c0001t0001a0001c0002t0001a0005c0010t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(67): Show | 72 | 380 | 0.1895 | 10 | c.507 others(27): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP97D1_chr17_43775435_43792620 | 43788962 | G | GGGTTATT others(3): Show |
downstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | 10 | c.*45 others(21): Show |
CFAP97D1 | ENSG00000231256.8 | transcript | ENST00000449302.8 | protein_coding | 1343 | chr17 | TogoVar | ||||||
CFAP97D2_chr13_114174257_114228085 | 114210855 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00621.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0001g0026a0001c0001t0001g0048others(29): Show | 39 | 400 | 0.0975 | 10 | c.290 others(29): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CFAP97_chr4_185154665_185209000 | 185192733 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0052 | 1 | 350 | 0.0029 | 10 | c.-16 others(27): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
CFAP97_chr4_185154665_185209000 | 185202275 | G | GGCTCATG others(3): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0282 | 1 | 350 | 0.0029 | 10 | c.-17 others(27): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
CFAP99_chr4_2413955_2468002 | 2415451 | T | TACACACA others(3): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG01243.hp1 HG02015.hp1 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0002t0001g0298a0001c0002t0001g0314a0001c0003t0001g0016others(14): Show | 18 | 350 | 0.0514 | 10 | c.-36 others(21): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 3503 | chr4 | TogoVar | ||||||
CFB_chr6_31941095_31957084 | 31941814 | C | CTTTTTTT others(3): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01074.hp2 others(19): Show |
a0003 | a0003c0004a0003c0006 | a0003c0004t0001a0003c0006t0001 | a0003c0004t0001g0004a0003c0004t0001g0019a0003c0006t0001g0008others(1): Show | 22 | 431 | 0.0510 | 10 | c.-44 others(21): Show |
CFB | ENSG00000243649.10 | transcript | ENST00000425368.7 | protein_coding | 4280 | chr6 | TogoVar | ||||||
CFC1B_chr2_130516222_130533603 | 130531601 | T | TGTGGGGT others(3): Show |
downstream_gene_variant | MODIFIER | HG01258.hp1 HG01258.hp2 HG02451.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0002c0007others(3): Show | a0001c0001t0001a0002c0004t0003a0002c0007t0004others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0002c0004t0003g0004others(4): Show | 9 | 12 | 0.7500 | 10 | c.*37 others(21): Show |
CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 2999 | chr2 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75297145 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG01070.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204a0001c0001t0001g0209a0001c0001t0001g0210others(11): Show | 14 | 314 | 0.0446 | 10 | c.810 others(27): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75297146 | T | TTTTGTGT others(3): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 314 | 0.0032 | 10 | c.810 others(27): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75301536 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02717.hp2 HG02970.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039a0001c0002t0001g0058a0001c0002t0001g0071others(1): Show | 4 | 314 | 0.0127 | 10 | c.809 others(27): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75306902 | C | CACACACA others(3): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01109.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126a0001c0001t0001g0131a0001c0001t0001g0133others(10): Show | 13 | 314 | 0.0414 | 10 | c.651 others(27): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75346582 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 314 | 0.0032 | 10 | c.651 others(29): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75363942 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01168.hp2 HG01169.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0258a0001c0001t0001g0300a0001c0001t0002g0166others(3): Show | 6 | 314 | 0.0191 | 10 | c.650 others(29): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75384852 | C | CAATATAT others(3): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 314 | 0.0032 | 10 | c.650 others(29): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75384852 | C | CTATATAT others(3): Show |
intron_variant | MODIFIER | HG02132.hp2 HG04184.hp1 NA18948.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0106a0001c0002t0001g0049a0001c0002t0001g0077others(3): Show | 6 | 314 | 0.0191 | 10 | c.650 others(29): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75393737 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 314 | 0.0032 | 10 | c.650 others(27): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFD_chr19_854664_868641 | 864060 | A | ACACACAC others(3): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG00738.hp1 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0069others(5): Show | 10 | 287 | 0.0348 | 10 | c.*82 others(19): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 420 | chr19 | TogoVar | ||||||
CFD_chr19_854664_868641 | 864060 | A | ACACACAC others(3): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG02647.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0064a0001c0001t0001g0075 | 3 | 287 | 0.0105 | 10 | c.*82 others(19): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 420 | chr19 | TogoVar | ||||||
CFHR1_chr1_196814731_196837189 | 196824748 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01167.hp1 others(12): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0004 | a0001c0002t0002a0001c0003t0002a0002c0004t0001 | a0001c0002t0002g0006a0001c0002t0002g0029a0001c0002t0002g0036others(4): Show | 15 | 275 | 0.0546 | 10 | c.59- others(23): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR1_chr1_196814731_196837189 | 196824771 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0087 | 1 | 275 | 0.0036 | 10 | c.59- others(23): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR2_chr1_196938738_196964622 | 196945777 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00642.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0092a0001c0001t0001g0093others(3): Show | 19 | 370 | 0.0514 | 10 | c.58+ others(25): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR2_chr1_196938738_196964622 | 196947153 | G | GTGTATAT others(3): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0099 | 1 | 370 | 0.0027 | 10 | c.59- others(25): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR4_chr1_196883052_196923633 | 196885558 | T | TATCATAT others(3): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 350 | 0.0029 | 10 | c.-25 others(21): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 2493 | chr1 | TogoVar | ||||||
CFHR4_chr1_196883052_196923633 | 196885599 | T | TAGAGAGA others(3): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG02165.hp2 NA18978.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002a0002c0002t0001g0070a0002c0002t0001g0073 | 3 | 350 | 0.0086 | 10 | c.-25 others(21): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 2452 | chr1 | TogoVar |