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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP46_chr10_132803392_132947570 | 132888416 | G | GCCTGCAC others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG01081.hp2 others(4): Show |
a0011a0030a0034others(1): Show | a0011c0010a0030c0056a0034c0057others(1): Show | a0011c0010t0001a0030c0056t0001a0034c0057t0001others(1): Show | a0011c0010t0001g0186 a0011c0010t0001g0187 a0011c0010t0001g0193 others(4): Show |
7 | 209 | 0.0335 | 13 | c.330 others(32): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888493 | G | GCACCTGC others(6): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0048 | a0048c0069 | a0048c0069t0002 | a0048c0069t0002g0015 | 1 | 166 | 0.0060 | 13 | c.330 others(32): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888575 | G | GCCTGCAC others(6): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02040.hp1 NA19056.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0161 a0002c0003t0001g0176 a0002c0003t0001g0188 |
3 | 216 | 0.0139 | 13 | c.330 others(32): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888594 | G | GCACCTGC others(6): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02300.hp2 HG02615.hp1 others(2): Show |
a0002a0010 | a0002c0002a0002c0023a0010c0011 | a0002c0002t0001a0002c0023t0001a0010c0011t0001 | a0002c0002t0001g0172 a0002c0002t0001g0179 a0002c0002t0001g0229 others(2): Show |
5 | 202 | 0.0248 | 13 | c.330 others(32): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888620 | G | GCCTGCAC others(6): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG01261.hp2 others(12): Show |
a0002a0003a0004 | a0002c0002a0002c0003a0002c0023others(2): Show | a0002c0002t0001a0002c0003t0001a0002c0023t0001others(2): Show | a0002c0002t0001g0137 a0002c0002t0001g0160 a0002c0002t0001g0172 others(12): Show |
15 | 167 | 0.0898 | 13 | c.330 others(32): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888710 | G | GCACCTGC others(6): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0033 | a0033c0074 | a0033c0074t0002 | a0033c0074t0002g0006 | 1 | 203 | 0.0049 | 13 | c.330 others(32): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888742 | C | CCCTGCCG others(6): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0023 | a0023c0099 | a0023c0099t0002 | a0023c0099t0002g0017 | 1 | 214 | 0.0047 | 13 | c.330 others(32): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 35960380 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02717.hp1 HG03098.hp1 others(3): Show |
a0015a0016a0019others(3): Show | a0015c0060a0016c0018a0019c0023others(3): Show | a0015c0060t0001a0016c0018t0001a0019c0023t0001others(3): Show | a0015c0060t0001g0210 a0016c0018t0001g0196 a0019c0023t0001g0147 others(3): Show |
6 | 92 | 0.0652 | 13 | c.141 others(32): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36022894 | C | CCCCCCTC others(6): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0151 | 1 | 214 | 0.0047 | 13 | c.355 others(32): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 22/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631044 | G | GAAGAAAG others(6): Show |
intron_variant | MODIFIER | HG02080.hp1 HG04115.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0149 a0002c0001t0001g0165 |
2 | 250 | 0.0080 | 13 | c.117 others(32): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAGAGAAG others(6): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01978.hp1 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0050 a0002c0001t0002g0179 |
2 | 79 | 0.0253 | 13 | c.117 others(32): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9636178 | A | AAAAAGAA others(6): Show |
intron_variant | MODIFIER | HG01361.hp1 HG03491.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0177 a0001c0002t0001g0281 |
2 | 311 | 0.0064 | 13 | c.147 others(30): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02809.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0100 a0003c0003t0001g0165 a0003c0003t0001g0167 |
3 | 53 | 0.0566 | 13 | c.131 others(32): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96551162 | T | TTGGGAGG others(6): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(84): Show |
a0001a0002a0004others(22): Show | a0001c0086a0002c0003a0002c0007others(30): Show | a0001c0086t0001a0002c0003t0001a0002c0003t0002others(31): Show | a0001c0086t0001g0146 a0002c0003t0001g0121 a0002c0003t0001g0122 others(84): Show |
87 | 266 | 0.3271 | 13 | c.215 others(32): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96617989 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02602.hp1 HG02630.hp1 HG03209.hp2 others(2): Show |
a0001a0019a0021others(1): Show | a0001c0001a0019c0027a0021c0023others(1): Show | a0001c0001t0001a0019c0027t0001a0021c0023t0001others(1): Show | a0001c0001t0001g0064 a0019c0027t0001g0017 a0021c0023t0001g0092 others(2): Show |
5 | 99 | 0.0505 | 13 | c.364 others(32): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 26/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96621875 | G | GTTTGTTT others(6): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01928.hp2 NA18949.hp1 others(4): Show |
a0008a0017a0034 | a0008c0008a0017c0045a0034c0044 | a0008c0008t0001a0017c0045t0001a0034c0044t0001 | a0008c0008t0001g0198 a0008c0008t0001g0199 a0008c0008t0001g0201 others(4): Show |
7 | 30 | 0.2333 | 13 | c.377 others(30): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 27/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96621875 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01358.hp1 NA18747.hp2 |
a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0009 a0005c0004t0001g0011 a0005c0004t0001g0012 |
3 | 26 | 0.1154 | 13 | c.377 others(30): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 27/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96634046 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02738.hp2 HG03688.hp1 others(3): Show |
a0007a0024a0044 | a0007c0009a0007c0055a0007c0056others(2): Show | a0007c0009t0001a0007c0055t0001a0007c0056t0001others(2): Show | a0007c0009t0001g0035 a0007c0009t0001g0043 a0007c0055t0001g0081 others(3): Show |
6 | 115 | 0.0522 | 13 | c.431 others(32): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 32/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96647472 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00597.hp2 others(28): Show |
a0001a0004a0006others(4): Show | a0001c0001a0001c0012a0001c0047others(10): Show | a0001c0001t0001a0001c0012t0001a0001c0047t0001others(10): Show | a0001c0001t0001g0020 a0001c0001t0001g0042 a0001c0001t0001g0055 others(28): Show |
31 | 104 | 0.2981 | 13 | c.454 others(30): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 33/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96654832 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03225.hp1 |
a0021a0049 | a0021c0023a0049c0039 | a0021c0023t0001a0049c0039t0001 | a0021c0023t0001g0092 a0049c0039t0001g0093 |
2 | 116 | 0.0172 | 13 | c.510 others(32): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 36/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20194974 | G | GGCTCTTT others(6): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0215 | 1 | 234 | 0.0043 | 13 | c.159 others(32): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20296316 | C | CTCCTTCC others(6): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01891.hp1 others(5): Show |
a0002a0004a0006others(2): Show | a0002c0002a0004c0013a0004c0025others(3): Show | a0002c0002t0001a0004c0013t0002a0004c0013t0003others(5): Show | a0002c0002t0001g0230 a0004c0013t0002g0047 a0004c0013t0003g0048 others(5): Show |
8 | 190 | 0.0421 | 13 | c.321 others(32): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP65_chr2_218997846_219046516 | 219000362 | T | TGTGTGTG others(6): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0178 | 1 | 320 | 0.0031 | 13 | c.*25 others(24): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 2483 | chr2 | TogoVar | |||||||
CFAP69_chr7_90240174_90316063 | 90264104 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0209 | 1 | 182 | 0.0055 | 13 | c.357 others(30): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFAP69_chr7_90240174_90316063 | 90264104 | A | AAAAATAT others(6): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0123 | 1 | 182 | 0.0055 | 13 | c.357 others(30): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73290044 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02809.hp2 HG03453.hp1 others(2): Show |
a0002a0013 | a0002c0002a0002c0013a0013c0015 | a0002c0002t0001a0002c0013t0001a0013c0015t0001 | a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0056 others(2): Show |
5 | 133 | 0.0376 | 13 | c.244 others(32): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 20/27 | chr10 | TogoVar | |||||||
CFAP70_chr10_73248762_73363864 | 73309658 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0090 | 1 | 145 | 0.0069 | 13 | c.146 others(30): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 13/27 | chr10 | TogoVar | |||||||
CFAP70_chr10_73248762_73363864 | 73362980 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(33): Show |
a0002a0006a0009 | a0002c0002a0006c0012a0009c0014 | a0002c0002t0001a0006c0012t0001a0009c0014t0001 | a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 others(33): Show |
36 | 161 | 0.2236 | 13 | c.-42 others(24): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 4117 | chr10 | TogoVar | |||||||
CFAP73_chr12_113144724_113164276 | 113150515 | T | TGCCCTGG others(6): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG02027.hp1 others(72): Show |
a0001a0002a0005 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 others(30): Show |
75 | 324 | 0.2315 | 13 | c.56+ others(26): Show |
CFAP73 | ENSG00000186710.12 | transcript | ENST00000335621.11 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132458357 | G | GGGGCGGG others(6): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03098.hp2 HG03209.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0002g0320 a0001c0002t0001g0227 a0001c0004t0001g0270 others(1): Show |
4 | 154 | 0.0260 | 13 | c.196 others(32): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132521778 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 127 | 0.0079 | 13 | c.525 others(32): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132533461 | C | CGCTTCCT others(6): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02615.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0137 a0001c0001t0001g0153 a0001c0001t0001g0174 others(10): Show |
13 | 320 | 0.0406 | 13 | c.525 others(30): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 3/5 | chr9 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132559346 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0315 | 1 | 29 | 0.0345 | 13 | c.733 others(32): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119738332 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02074.hp2 HG02155.hp1 others(2): Show |
a0001a0018 | a0001c0001a0018c0019 | a0001c0001t0001a0018c0019t0001 | a0001c0001t0001g0020 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
5 | 17 | 0.2941 | 13 | c.146 others(30): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119740835 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0080 | 1 | 59 | 0.0169 | 13 | c.168 others(30): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 13/17 | chr3 | TogoVar | |||||||
CFAP95_chr9_69815817_69911227 | 69832620 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01255.hp1 HG02717.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0002c0008t0001 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0052 others(7): Show |
10 | 17 | 0.5882 | 13 | c.152 others(32): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69841197 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 376 | 0.0027 | 13 | c.153 others(30): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
CFAP97D1_chr17_43775435_43792620 | 43778994 | G | GGCTCGCG others(6): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0020 | 1 | 400 | 0.0025 | 13 | c.-14 others(24): Show |
CFAP97D1 | ENSG00000231256.8 | transcript | ENST00000449302.8 | protein_coding | 1440 | chr17 | TogoVar | |||||||
CFAP97D2_chr13_114174257_114228085 | 114176793 | T | TGTGAGTG others(6): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG01361.hp2 HG01993.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0013 a0001c0001t0006g0040 a0001c0001t0006g0330 others(9): Show |
15 | 398 | 0.0377 | 13 | c.-25 others(24): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2463 | chr13 | TogoVar | |||||||
CFAP97_chr4_185154665_185209000 | 185198789 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01168.hp2 HG01433.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0193 a0002c0002t0001g0210 a0002c0002t0001g0222 others(2): Show |
5 | 184 | 0.0272 | 13 | c.-17 others(30): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
CFAP99_chr4_2413955_2468002 | 2440149 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01255.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(3): Show |
6 | 209 | 0.0287 | 13 | c.351 others(30): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFB_chr6_31941095_31957084 | 31941814 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 196 | 0.0051 | 13 | c.-44 others(24): Show |
CFB | ENSG00000243649.10 | transcript | ENST00000425368.7 | protein_coding | 4280 | chr6 | TogoVar | |||||||
CFC1_chr2_130587165_130604575 | 130603723 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG03098.hp2 HG03139.hp2 |
a0001a0003 | a0001c0004a0003c0003 | a0001c0004t0002a0003c0003t0002 | a0001c0004t0002g0020 a0001c0004t0002g0021 a0003c0003t0002g0019 |
3 | 236 | 0.0127 | 13 | c.-44 others(24): Show |
CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 4149 | chr2 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75297195 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 306 | 0.0033 | 13 | c.810 others(30): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75301536 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0069 | 1 | 103 | 0.0097 | 13 | c.809 others(30): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349666 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 311 | 0.0032 | 13 | c.651 others(32): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349678 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 288 | 0.0035 | 13 | c.651 others(32): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349682 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0150 a0001c0001t0002g0169 |
2 | 204 | 0.0098 | 13 | c.651 others(32): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349688 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 a0001c0001t0002g0173 |
2 | 29 | 0.0690 | 13 | c.651 others(32): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFH_chr1_196647043_196752504 | 196658407 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 124 | 0.0081 | 13 | c.58+ others(28): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |