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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP61_chr20_20047532_20365698 | 20272447 | T | TAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00735.hp1 others(77): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0006a0001c0007others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0206 others(77): Show |
80 | 234 | 0.3419 | 5 | c.250 others(24): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20284250 | C | CTTTAT | intron_variant | MODIFIER | HG02965.hp1 HG03017.hp1 HG03017.hp2 others(2): Show |
a0001a0002a0003 | a0001c0006a0002c0002a0003c0005 | a0001c0006t0006a0002c0002t0002a0002c0002t0005others(1): Show | a0001c0006t0006g0011 a0002c0002t0002g0103 a0002c0002t0002g0159 others(2): Show |
5 | 225 | 0.0222 | 5 | c.279 others(24): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20296096 | T | TCCTTC | intron_variant | MODIFIER | HG01074.hp2 HG01168.hp2 HG01169.hp1 others(6): Show |
a0001a0002a0017others(1): Show | a0001c0001a0002c0002a0017c0040others(1): Show | a0001c0001t0002a0002c0002t0002a0017c0040t0002others(1): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 others(6): Show |
9 | 128 | 0.0703 | 5 | c.321 others(24): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20348689 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00735.hp2 others(18): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0003t0004a0001c0006t0001others(5): Show | a0001c0001t0001g0082 a0001c0001t0001g0154 a0001c0001t0001g0157 others(18): Show |
21 | 81 | 0.2593 | 5 | c.351 others(24): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP65_chr2_218997846_219046516 | 219009602 | G | GGGATA | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02615.hp2 others(7): Show |
a0004a0005a0007others(2): Show | a0004c0004a0005c0007a0007c0006others(2): Show | a0004c0004t0003a0005c0007t0003a0007c0006t0003others(2): Show | a0004c0004t0003g0190 a0005c0007t0003g0031 a0005c0007t0003g0178 others(6): Show |
10 | 320 | 0.0313 | 5 | c.445 others(22): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 27/34 | chr2 | TogoVar | |||||||
CFAP65_chr2_218997846_219046516 | 219009619 | A | AATGGG | intron_variant | MODIFIER | HG02559.hp1 HG02559.hp2 HG02630.hp2 others(4): Show |
a0007a0013a0016others(2): Show | a0007c0006a0013c0021a0013c0053others(3): Show | a0007c0006t0002a0013c0021t0001a0013c0053t0001others(3): Show | a0007c0006t0002g0085 a0013c0021t0001g0050 a0013c0021t0001g0051 others(4): Show |
7 | 268 | 0.0261 | 5 | c.445 others(22): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 27/34 | chr2 | TogoVar | |||||||
CFAP65_chr2_218997846_219046516 | 219009628 | G | GGACAA | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02615.hp2 others(7): Show |
a0004a0005a0007others(2): Show | a0004c0004a0005c0007a0007c0006others(2): Show | a0004c0004t0003a0005c0007t0003a0007c0006t0003others(2): Show | a0004c0004t0003g0190 a0005c0007t0003g0031 a0005c0007t0003g0178 others(6): Show |
10 | 320 | 0.0313 | 5 | c.445 others(22): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 27/34 | chr2 | TogoVar | |||||||
CFAP65_chr2_218997846_219046516 | 219009675 | G | GTGGGA | intron_variant | MODIFIER | HG02258.hp2 HG02647.hp1 HG03130.hp2 others(1): Show |
a0005a0008 | a0005c0007a0008c0010 | a0005c0007t0001a0008c0010t0001 | a0005c0007t0001g0143 a0008c0010t0001g0017 a0008c0010t0001g0041 |
4 | 318 | 0.0126 | 5 | c.445 others(22): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 27/34 | chr2 | TogoVar | |||||||
CFAP68_chr11_111874541_111890975 | 111888602 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01358.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0016 | a0001c0002t0003g0002 a0001c0002t0016g0002 |
11 | 272 | 0.0404 | 5 | c.*47 others(16): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 2628 | chr11 | TogoVar | |||||||
CFAP70_chr10_73248762_73363864 | 73322643 | G | GATTCA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(70): Show |
a0002a0004a0006others(2): Show | a0002c0002a0002c0013a0004c0004others(3): Show | a0002c0002t0001a0002c0013t0001a0004c0004t0001others(3): Show | a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 others(70): Show |
73 | 218 | 0.3349 | 5 | c.112 others(22): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 10/27 | chr10 | TogoVar | |||||||
CFAP70_chr10_73248762_73363864 | 73362518 | T | TTTTTG | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(85): Show |
a0002a0003a0004others(4): Show | a0002c0002a0002c0006a0002c0013others(6): Show | a0002c0002t0001a0002c0006t0001a0002c0013t0001others(6): Show | a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 others(85): Show |
88 | 218 | 0.4037 | 5 | c.-37 others(16): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 3655 | chr10 | TogoVar | |||||||
CFAP73_chr12_113144724_113164276 | 113145370 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG02080.hp1 HG02155.hp1 HG02280.hp2 others(36): Show |
a0001a0005 | a0001c0001a0001c0006a0005c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(18): Show |
39 | 315 | 0.1238 | 5 | c.-44 others(16): Show |
CFAP73 | ENSG00000186710.12 | transcript | ENST00000335621.11 | protein_coding | 4353 | chr12 | TogoVar | |||||||
CFAP73_chr12_113144724_113164276 | 113151793 | C | CAAAAA | intron_variant | MODIFIER | HG02155.hp1 HG02698.hp1 HG02809.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0075 a0001c0001t0003g0004 a0001c0001t0003g0033 others(2): Show |
17 | 241 | 0.0705 | 5 | c.57- others(18): Show |
CFAP73 | ENSG00000186710.12 | transcript | ENST00000335621.11 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1932081 | A | AAAAAC | intron_variant | MODIFIER | HG02572.hp2 HG02818.hp1 HG02976.hp2 others(2): Show |
a0001a0003a0020 | a0001c0097a0003c0004a0003c0005others(2): Show | a0001c0097t0002a0003c0004t0002a0003c0005t0002others(2): Show | a0001c0097t0002g0085 a0003c0004t0002g0074 a0003c0005t0002g0124 others(2): Show |
5 | 275 | 0.0182 | 5 | c.301 others(24): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 25/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1932087 | C | CAAAAA | intron_variant | MODIFIER | HG01175.hp2 HG03130.hp2 HG03453.hp2 others(4): Show |
a0003a0012a0020 | a0003c0004a0003c0005a0003c0056others(2): Show | a0003c0004t0002a0003c0005t0002a0003c0056t0002others(2): Show | a0003c0004t0002g0079 a0003c0004t0002g0244 a0003c0004t0002g0265 others(4): Show |
7 | 139 | 0.0504 | 5 | c.301 others(24): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 25/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1963456 | C | CAAAAA | intron_variant | MODIFIER | HG00673.hp2 HG02155.hp2 HG02165.hp1 others(5): Show |
a0001 | a0001c0003a0001c0025a0001c0030others(2): Show | a0001c0003t0001a0001c0025t0001a0001c0030t0001others(2): Show | a0001c0003t0001g0053 a0001c0003t0001g0234 a0001c0003t0001g0253 others(5): Show |
8 | 102 | 0.0784 | 5 | c.169 others(22): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 14/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1969249 | A | AGCCCT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(64): Show |
a0001a0005a0006others(10): Show | a0001c0003a0001c0010a0001c0013others(33): Show | a0001c0003t0001a0001c0010t0001a0001c0010t0007others(35): Show | a0001c0003t0001g0053 a0001c0003t0001g0088 a0001c0003t0001g0091 others(64): Show |
67 | 276 | 0.2428 | 5 | c.104 others(22): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 10/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1992039 | C | CAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02145.hp1 others(10): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0013a0001c0031others(8): Show | a0001c0003t0001a0001c0013t0001a0001c0031t0001others(8): Show | a0001c0003t0001g0199 a0001c0013t0001g0141 a0001c0013t0001g0142 others(10): Show |
13 | 230 | 0.0565 | 5 | c.-19 others(22): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 1/38 | chr1 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132438542 | T | TATATA | intron_variant | MODIFIER | HG01952.hp2 HG03453.hp2 NA18979.hp2 |
a0001a0008 | a0001c0002a0001c0004a0008c0018 | a0001c0002t0001a0001c0004t0003a0008c0018t0001 | a0001c0002t0001g0109 a0001c0004t0003g0285 a0008c0018t0001g0186 |
3 | 310 | 0.0097 | 5 | c.195 others(24): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132471687 | T | TTTTTG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(210): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0020 a0001c0001t0001g0034 a0001c0001t0001g0037 others(210): Show |
213 | 318 | 0.6698 | 5 | c.196 others(24): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132559346 | C | CAAAAA | intron_variant | MODIFIER | HG01167.hp2 HG01943.hp2 HG02055.hp2 others(15): Show |
a0001a0005a0009 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0153 others(15): Show |
18 | 46 | 0.3913 | 5 | c.733 others(24): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132577637 | C | CAAACA | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(123): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 others(123): Show |
126 | 312 | 0.4038 | 5 | c.*51 others(16): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 4319 | chr9 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132577646 | A | AAAAAC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(98): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(15): Show | a0001c0001t0001g0038 a0001c0001t0001g0078 a0001c0001t0001g0079 others(98): Show |
101 | 273 | 0.3700 | 5 | c.*51 others(16): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 4328 | chr9 | TogoVar | |||||||
CFAP91_chr3_119698022_119772102 | 119734468 | G | GTTCCC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(368): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(48): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(338): Show |
371 | 384 | 0.9661 | 5 | c.134 others(22): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119738332 | C | CTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00735.hp1 others(18): Show |
a0001a0002a0014 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0004t0005others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0112 others(15): Show |
21 | 33 | 0.6364 | 5 | c.146 others(22): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128943919 | C | CCCCGT | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01109.hp2 others(11): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0005 | a0001c0001t0001a0001c0003t0001a0005c0005t0001 | a0001c0001t0001g0004 a0001c0001t0001g0188 a0001c0001t0001g0191 others(10): Show |
14 | 304 | 0.0461 | 5 | c.225 others(24): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 10/15 | chr3 | TogoVar | |||||||
CFAP92_chr3_128904873_128999076 | 128956977 | C | CAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01069.hp1 others(39): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0304 others(37): Show |
42 | 298 | 0.1409 | 5 | c.135 others(24): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 9/15 | chr3 | TogoVar | |||||||
CFAP92_chr3_128904873_128999076 | 128956994 | A | AAAAAG | intron_variant | MODIFIER | HG01175.hp1 HG02056.hp1 HG02071.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0076 a0001c0001t0001g0128 others(3): Show |
6 | 97 | 0.0619 | 5 | c.135 others(24): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 9/15 | chr3 | TogoVar | |||||||
CFAP95_chr9_69815817_69911227 | 69820473 | A | ACACAC | upstream_gene_variant | MODIFIER | HG02074.hp1 HG03927.hp2 HG04184.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0185 a0001c0001t0001g0228 a0001c0002t0001g0208 others(1): Show |
4 | 377 | 0.0106 | 5 | c.-40 others(14): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 343 | chr9 | TogoVar | |||||||
CFAP95_chr9_69815817_69911227 | 69843520 | T | TCCCCC | intron_variant | MODIFIER | HG00544.hp2 HG01975.hp2 HG02258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0023 others(3): Show |
7 | 345 | 0.0203 | 5 | c.153 others(20): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69843523 | T | TCCCCC | intron_variant | MODIFIER | HG00673.hp2 HG01943.hp1 HG02293.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0024 others(5): Show |
9 | 362 | 0.0249 | 5 | c.153 others(20): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP97D2_chr13_114174257_114228085 | 114223439 | A | AAAAAG | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp1 others(140): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 others(119): Show |
143 | 394 | 0.3629 | 5 | c.*93 others(14): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 355 | chr13 | TogoVar | |||||||
CFAP97_chr4_185154665_185209000 | 185176109 | C | CTTTTG | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG01081.hp2 others(39): Show |
a0001 | a0001c0003a0001c0004a0001c0005others(2): Show | a0001c0003t0004a0001c0004t0007a0001c0004t0009others(6): Show | a0001c0003t0004g0032 a0001c0003t0004g0033 a0001c0003t0004g0034 others(37): Show |
42 | 178 | 0.2360 | 5 | c.105 others(20): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
CFAP97_chr4_185154665_185209000 | 185176109 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(155): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0011a0006c0010others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(118): Show |
158 | 294 | 0.5374 | 5 | c.105 others(20): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
CFAP97_chr4_185154665_185209000 | 185206660 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01109.hp2 HG01891.hp1 others(27): Show |
a0001a0002a0003 | a0001c0007a0002c0002a0003c0006 | a0001c0007t0011a0002c0002t0001a0002c0002t0019others(1): Show | a0001c0007t0011g0030 a0002c0002t0001g0026 a0002c0002t0001g0027 others(25): Show |
30 | 176 | 0.1705 | 5 | c.-27 others(16): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 2661 | chr4 | TogoVar | |||||||
CFAP99_chr4_2413955_2468002 | 2417678 | G | GAGGCC | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02451.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0018 a0001c0001t0001g0124 a0001c0001t0001g0125 others(2): Show |
6 | 348 | 0.0172 | 5 | c.-14 others(16): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 1276 | chr4 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75290722 | A | AAAAAG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(117): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0001 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 others(117): Show |
120 | 289 | 0.4152 | 5 | c.*32 others(16): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 2987 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75301536 | C | CTTTTT | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG02683.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0109 others(3): Show |
6 | 108 | 0.0556 | 5 | c.809 others(22): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75309819 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG01109.hp2 HG01243.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0002g0147 others(11): Show |
14 | 89 | 0.1573 | 5 | c.651 others(22): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75332476 | G | GTAAAA | intron_variant | MODIFIER | HG01433.hp1 HG02109.hp2 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 others(4): Show |
7 | 312 | 0.0224 | 5 | c.651 others(24): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75346582 | C | CAAAAA | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00741.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0006 | a0001c0001t0001g0035 a0001c0002t0001g0030 a0001c0002t0001g0036 others(15): Show |
18 | 22 | 0.8182 | 5 | c.651 others(24): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75347359 | A | AAAAAG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(101): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 others(101): Show |
104 | 265 | 0.3925 | 5 | c.651 others(24): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349520 | A | AAAAAG | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01433.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005 a0001c0001t0001g0190 a0001c0001t0001g0191 others(9): Show |
12 | 312 | 0.0385 | 5 | c.651 others(24): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75394658 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01123.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0008 a0001c0001t0001g0187 a0001c0001t0001g0191 others(23): Show |
26 | 61 | 0.4262 | 5 | c.650 others(20): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFD_chr19_854664_868641 | 856422 | A | AAAAAT | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01070.hp1 HG01123.hp2 others(70): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(26): Show |
73 | 276 | 0.2645 | 5 | c.-32 others(16): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 3241 | chr19 | TogoVar | |||||||
CFD_chr19_854664_868641 | 856422 | A | ATAAAT | upstream_gene_variant | MODIFIER | NA18612.hp1 NA18960.hp1 NA18962.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 5 | 208 | 0.0240 | 5 | c.-32 others(16): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 3241 | chr19 | TogoVar | |||||||
CFHR2_chr1_196938738_196964622 | 196943183 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG01361.hp1 HG01884.hp1 HG02280.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0001a0002c0004t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(9): Show |
14 | 112 | 0.1250 | 5 | c.-69 others(14): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 554 | chr1 | TogoVar | |||||||
CFHR4_chr1_196883052_196923633 | 196885516 | T | TTTATA | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01884.hp1 others(18): Show |
a0001a0002a0005others(2): Show | a0001c0007a0001c0014a0002c0002others(3): Show | a0001c0007t0001a0001c0014t0003a0002c0002t0001others(3): Show | a0001c0007t0001g0041 a0001c0014t0003g0046 a0002c0002t0001g0009 others(7): Show |
21 | 348 | 0.0603 | 5 | c.-26 others(16): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 2535 | chr1 | TogoVar | |||||||
CFH_chr1_196647043_196752504 | 196658407 | A | ATTTTT | intron_variant | MODIFIER | HG02280.hp2 HG02723.hp2 HG02970.hp2 others(5): Show |
a0001a0005a0006 | a0001c0001a0005c0005a0006c0017 | a0001c0001t0001a0005c0005t0002a0005c0005t0003others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(5): Show |
8 | 131 | 0.0611 | 5 | c.58+ others(20): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196661886 | G | GTTTGT | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02622.hp1 others(8): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0005a0006c0017others(1): Show | a0001c0001t0001a0005c0005t0002a0006c0017t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(8): Show |
11 | 306 | 0.0359 | 5 | c.58+ others(20): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |