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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP46_chr10_132803392_132947570 | 132888598 | C | CCCTGCCG others(21): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0048 | a0048c0107 | a0048c0107t0002 | a0048c0107t0002g0103 | 1 | 246 | 0.0041 | 28 | c.330 others(47): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132888742 | C | CCCTGCCA others(21): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 246 | 0.0041 | 28 | c.330 others(47): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132888742 | C | CCCTGCCG others(21): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0137 | 1 | 246 | 0.0041 | 28 | c.330 others(47): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132888742 | C | CCCTGCCG others(21): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0070 | a0070c0074 | a0070c0074t0002 | a0070c0074t0002g0006 | 1 | 246 | 0.0041 | 28 | c.330 others(47): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132888848 | G | GCCTGCAC others(21): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(56): Show |
a0002a0003a0004others(11): Show | a0002c0002a0002c0003a0002c0023others(18): Show | a0002c0002t0001a0002c0003t0001a0002c0023t0001others(19): Show | a0002c0002t0001g0126a0002c0002t0001g0141a0002c0002t0001g0159others(55): Show | 59 | 246 | 0.2398 | 28 | c.330 others(47): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35923874 | T | TATACACA others(21): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02976.hp1 |
a0021 | a0021c0021 | a0021c0021t0001 | a0021c0021t0001g0209a0021c0021t0001g0210 | 2 | 216 | 0.0093 | 28 | c.250 others(45): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35923906 | C | CATACATA others(21): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0014 | a0014c0016 | a0014c0016t0001 | a0014c0016t0001g0193 | 1 | 216 | 0.0046 | 28 | c.250 others(45): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36371643 | T | TATGTGTA others(21): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 216 | 0.0046 | 28 | c.918 others(47): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 62/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36371757 | C | CATGTGTG others(21): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0039 | a0039c0045 | a0039c0045t0001 | a0039c0045t0001g0065 | 1 | 216 | 0.0046 | 28 | c.918 others(47): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 62/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36371842 | G | GTGTGTAT others(21): Show |
intron_variant | MODIFIER | HG01943.hp1 HG01993.hp1 |
a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0042a0004c0003t0001g0043 | 2 | 216 | 0.0093 | 28 | c.918 others(47): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 62/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 36371946 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0053 | a0053c0061 | a0053c0061t0002 | a0053c0061t0002g0214 | 1 | 216 | 0.0046 | 28 | c.918 others(47): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 62/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9631028 | A | AAGAAAGA others(21): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0184 | 1 | 316 | 0.0032 | 28 | c.117 others(47): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9631028 | A | AAGAGAGA others(21): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0246 | 1 | 316 | 0.0032 | 28 | c.117 others(47): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9631040 | G | GAGAAAGA others(21): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0131 | 1 | 316 | 0.0032 | 28 | c.117 others(47): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0256 | 1 | 316 | 0.0032 | 28 | c.117 others(47): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0029 | 1 | 316 | 0.0032 | 28 | c.117 others(47): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02056.hp1 HG02056.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0068a0002c0002t0001g0078a0002c0002t0001g0120 | 3 | 402 | 0.0075 | 28 | c.131 others(47): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAATA others(21): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02148.hp2 HG02922.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0031a0001c0001t0001g0061a0001c0001t0001g0257others(6): Show | 9 | 402 | 0.0224 | 28 | c.131 others(47): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAATATA others(21): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0124 | 1 | 402 | 0.0025 | 28 | c.131 others(47): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | ||||||
CFAP57_chr1_43167330_43259358 | 43180238 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0022 | 1 | 308 | 0.0033 | 28 | c.158 others(45): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20269136 | T | TACACACA others(21): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090a0001c0001t0003g0093 | 2 | 236 | 0.0085 | 28 | c.250 others(47): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20269152 | C | CACACACA others(21): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02970.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0022a0002c0002t0001g0023 | 2 | 236 | 0.0085 | 28 | c.250 others(47): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP68_chr11_111874541_111890975 | 111886762 | A | ATATATAT others(21): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0005 | 1 | 392 | 0.0026 | 28 | c.*28 others(39): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 788 | chr11 | TogoVar | ||||||
CFAP68_chr11_111874541_111890975 | 111886762 | A | ATATATAT others(21): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 HG02109.hp2 HG02148.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0012a0002c0003t0001 | a0001c0001t0001g0001a0001c0001t0012g0001a0002c0003t0001g0001 | 15 | 392 | 0.0383 | 28 | c.*28 others(39): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 788 | chr11 | TogoVar | ||||||
CFAP68_chr11_111874541_111890975 | 111886762 | A | ATATATGT others(21): Show |
downstream_gene_variant | MODIFIER | NA18942.hp2 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 392 | 0.0051 | 28 | c.*28 others(39): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 788 | chr11 | TogoVar | ||||||
CFAP69_chr7_90240174_90316063 | 90250187 | G | GGAGAGAG others(21): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0162 | 1 | 338 | 0.0030 | 28 | c.120 others(45): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFAP91_chr3_119698022_119772102 | 119707732 | G | GATATATA others(21): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0009 | a0009c0026 | a0009c0026t0032 | a0009c0026t0032g0097 | 1 | 386 | 0.0026 | 28 | c.359 others(43): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP92_chr3_128904873_128999076 | 128932378 | T | TACACACA others(21): Show |
intron_variant | MODIFIER | HG02683.hp1 HG02922.hp2 HG03209.hp2 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0297a0002c0004t0002g0313a0002c0004t0002g0317others(1): Show | 4 | 342 | 0.0117 | 28 | c.275 others(45): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 12/15 | chr3 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69841164 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01515.hp2 HG01516.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0207a0001c0002t0001g0005a0001c0002t0001g0289others(2): Show | 6 | 380 | 0.0158 | 28 | c.153 others(45): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69841164 | T | TTTAATAT others(21): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 380 | 0.0026 | 28 | c.153 others(45): 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(21): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01978.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0271others(1): Show | 4 | 380 | 0.0105 | 28 | c.153 others(45): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP97_chr4_185154665_185209000 | 185192733 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0067 | 1 | 350 | 0.0029 | 28 | c.-16 others(45): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
CFAP99_chr4_2413955_2468002 | 2435861 | A | AAGCAGCT others(21): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02055.hp2 others(17): Show |
a0001a0002a0016 | a0001c0003a0001c0004a0001c0006others(2): Show | a0001c0003t0001a0001c0003t0002a0001c0004t0002others(4): Show | a0001c0003t0001g0016a0001c0003t0001g0021a0001c0003t0001g0126others(15): Show | 20 | 350 | 0.0571 | 28 | c.112 others(43): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP99_chr4_2413955_2468002 | 2435992 | C | CGAGGTGG others(21): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0163 | 1 | 350 | 0.0029 | 28 | c.112 others(43): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP99_chr4_2413955_2468002 | 2466647 | T | TTGTGTGT others(21): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 HG01081.hp2 HG01255.hp2 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(12): Show | a0001c0002t0001g0004a0001c0002t0001g0022a0001c0002t0001g0142others(32): Show | 37 | 350 | 0.1057 | 28 | c.*37 others(39): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 3646 | chr4 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75303400 | A | AATGTATG others(21): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 314 | 0.0032 | 28 | c.809 others(45): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75349682 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01978.hp2 HG02135.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0259a0001c0001t0001g0274a0001c0001t0001g0284others(1): Show | 4 | 314 | 0.0127 | 28 | c.651 others(47): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75349684 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01934.hp2 HG01978.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0034a0001c0001t0001g0151a0001c0001t0001g0260others(2): Show | 5 | 314 | 0.0159 | 28 | c.651 others(47): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75349688 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG03225.hp2 NA19066.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014a0001c0002t0001g0048 | 2 | 314 | 0.0064 | 28 | c.651 others(47): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75349698 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 314 | 0.0032 | 28 | c.651 others(47): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFD_chr19_854664_868641 | 864042 | C | CCACACAC others(21): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 NA18963.hp1 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0060 | 3 | 287 | 0.0105 | 28 | c.*80 others(37): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 402 | chr19 | TogoVar | ||||||
CFD_chr19_854664_868641 | 864060 | A | ACACACAC others(21): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0020a0001c0001t0002g0002 | 2 | 287 | 0.0070 | 28 | c.*82 others(37): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 420 | chr19 | TogoVar | ||||||
CFHR1_chr1_196814731_196837189 | 196824748 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0041 | 1 | 275 | 0.0036 | 28 | c.59- others(41): 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(21): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG04184.hp2 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0003a0002c0001t0002g0050 | 2 | 261 | 0.0077 | 28 | c.-21 others(39): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 2145 | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714668 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 308 | 0.0033 | 28 | c.151 others(45): 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(21): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0079 | 1 | 308 | 0.0033 | 28 | c.151 others(45): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFI_chr4_109735695_109806999 | 109753228 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0273 | 1 | 354 | 0.0028 | 28 | c.905 others(43): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753228 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 354 | 0.0028 | 28 | c.905 others(43): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73453568 | C | CTTTTTTT others(21): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 NA18943.hp2 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0008a0002c0005t0002 | a0001c0002t0008g0008a0002c0005t0002g0267 | 2 | 410 | 0.0049 | 28 | c.-13 others(39): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1272 | chr6 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57394101 | G | GTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01069.hp1 HG01070.hp1 others(16): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(8): Show | a0001c0001t0001g0189a0001c0001t0002g0225a0001c0001t0002g0231others(16): Show | 19 | 294 | 0.0646 | 28 | c.-16 others(47): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |