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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP276_chr1_109100951_109117747 | 109113415 | AAAGAGAG | A | upstream_gene_variant | MODIFIER | HG01261.hp2 HG03017.hp2 NA18980.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0014 |
5 | 391 | 0.0128 | -7 | c.-74 others(16): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 669 | chr1 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80454214 | GAGACTCA | G | intron_variant | MODIFIER | NA18984.hp1 NA19060.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 a0002c0002t0001g0012 |
2 | 96 | 0.0208 | -7 | c.242 others(26): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80626873 | CTGGGACA | C | intron_variant | MODIFIER | HG02280.hp2 HG02886.hp1 HG02922.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0009t0002a0002c0002t0001 | a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0009t0002g0015 others(2): Show |
5 | 96 | 0.0521 | -7 | c.333 others(26): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80654784 | CTTTTTTT | C | intron_variant | MODIFIER | HG02280.hp2 HG02886.hp1 HG02922.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0009t0002a0002c0002t0001 | a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0009t0002g0015 others(2): Show |
5 | 61 | 0.0820 | -7 | c.333 others(26): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80669145 | CTTTCTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG01168.hp1 HG02735.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0001a0001c0004t0001a0002c0005t0001 | a0001c0001t0001g0023 a0001c0004t0001g0094 a0001c0004t0001g0095 others(1): Show |
4 | 55 | 0.0727 | -7 | c.333 others(26): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80937312 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp1 HG03017.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0010 a0002c0002t0001g0001 a0002c0002t0001g0003 others(4): Show |
7 | 42 | 0.1667 | -7 | c.477 others(24): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP36_chr2_55514718_55550079 | 55524422 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(93): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0015 others(43): Show |
96 | 274 | 0.3504 | -7 | c.282 others(22): Show |
CFAP36 | ENSG00000163001.12 | transcript | ENST00000349456.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113302457 | TAAAAAAA | T | intron_variant | MODIFIER | HG00408.hp1 NA18939.hp2 NA18944.hp2 others(14): Show |
a0005a0037 | a0005c0005a0037c0044 | a0005c0005t0010a0005c0005t0012a0005c0005t0015others(4): Show | a0005c0005t0010g0009 a0005c0005t0010g0010 a0005c0005t0010g0011 others(14): Show |
17 | 201 | 0.0846 | -7 | c.507 others(26): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 32/34 | chr3 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113328695 | TTAAAAAA | T | intron_variant | MODIFIER | HG02486.hp1 HG02738.hp1 HG02965.hp2 others(3): Show |
a0003a0004a0006 | a0003c0019a0004c0004a0004c0043others(1): Show | a0003c0019t0014a0004c0004t0012a0004c0043t0057others(2): Show | a0003c0019t0014g0164 a0003c0019t0014g0165 a0004c0004t0012g0285 others(3): Show |
6 | 114 | 0.0526 | -7 | c.411 others(24): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 26/34 | chr3 | TogoVar | |||||||
CFAP45_chr1_159867364_159905165 | 159878753 | TAAAAAAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01099.hp2 others(19): Show |
a0001a0003a0007 | a0001c0001a0003c0004a0007c0010 | a0001c0001t0001a0003c0004t0001a0007c0010t0001 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0023 others(10): Show |
22 | 54 | 0.4074 | -7 | c.104 others(26): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132821372 | CTGTGTGT | C | intron_variant | MODIFIER | HG00544.hp2 NA19004.hp2 NA20905.hp2 |
a0019a0075 | a0019c0027a0075c0098 | a0019c0027t0002a0075c0098t0002 | a0019c0027t0002g0026 a0019c0027t0002g0078 a0075c0098t0002g0023 |
3 | 244 | 0.0123 | -7 | c.711 others(26): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132821601 | CTGTGTGT | C | intron_variant | MODIFIER | HG00544.hp2 HG01261.hp1 NA19004.hp2 others(1): Show |
a0009a0019a0075 | a0009c0043a0019c0027a0075c0098 | a0009c0043t0001a0019c0027t0002a0075c0098t0002 | a0009c0043t0001g0209 a0019c0027t0002g0026 a0019c0027t0002g0078 others(1): Show |
4 | 243 | 0.0165 | -7 | c.711 others(26): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132823613 | GTGTGTGC | G | intron_variant | MODIFIER | HG01069.hp2 HG01257.hp2 HG02630.hp1 |
a0012a0033 | a0012c0025a0033c0074 | a0012c0025t0002a0033c0074t0002 | a0012c0025t0002g0007 a0012c0025t0002g0014 a0033c0074t0002g0006 |
3 | 244 | 0.0123 | -7 | c.711 others(26): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132823760 | GTGTGTGC | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(7): Show |
a0011a0018a0030others(3): Show | a0011c0010a0018c0020a0030c0056others(3): Show | a0011c0010t0001a0018c0020t0001a0030c0056t0001others(3): Show | a0011c0010t0001g0186 a0011c0010t0001g0187 a0011c0010t0001g0193 others(7): Show |
10 | 243 | 0.0412 | -7 | c.711 others(26): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132946533 | TCAGCACC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(96): Show |
a0002a0004a0005others(26): Show | a0002c0002a0002c0003a0002c0023others(39): Show | a0002c0002t0001a0002c0003t0001a0002c0023t0001others(39): Show | a0002c0002t0001g0126 a0002c0002t0001g0134 a0002c0002t0001g0137 others(96): Show |
99 | 244 | 0.4057 | -7 | c.-40 others(18): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 3964 | chr10 | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 36074808 | TGATGACC | T | intron_variant | MODIFIER | HG01255.hp1 HG02630.hp2 HG02818.hp2 others(2): Show |
a0017a0023a0032 | a0017c0016a0017c0066a0023c0055others(1): Show | a0017c0016t0001a0017c0066t0001a0023c0055t0001others(1): Show | a0017c0016t0001g0192 a0017c0016t0001g0198 a0017c0066t0001g0137 others(2): Show |
5 | 214 | 0.0234 | -7 | c.469 others(26): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 29/63 | chrX | TogoVar | |||||||
CFAP52_chr17_9571642_9648447 | 9636192 | AAAGAAAG | A | intron_variant | MODIFIER | HG01433.hp1 HG02056.hp1 HG02080.hp2 others(10): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0012 a0001c0002t0001g0027 a0001c0002t0001g0028 others(10): Show |
13 | 264 | 0.0492 | -7 | c.147 others(24): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96674336 | CTTTTTTT | C | intron_variant | MODIFIER | HG01106.hp2 HG01928.hp2 HG02486.hp1 others(7): Show |
a0009a0012a0021others(3): Show | a0009c0028a0009c0071a0009c0077others(5): Show | a0009c0028t0001a0009c0071t0001a0009c0077t0001others(5): Show | a0009c0028t0001g0180 a0009c0028t0001g0181 a0009c0071t0001g0182 others(7): Show |
10 | 40 | 0.2500 | -7 | c.556 others(26): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96874620 | TATTTTTA | T | intron_variant | MODIFIER | HG00558.hp1 HG00738.hp1 HG00741.hp1 others(15): Show |
a0002a0006a0008others(7): Show | a0002c0007a0006c0049a0008c0008others(8): Show | a0002c0007t0001a0006c0049t0001a0008c0008t0001others(8): Show | a0002c0007t0001g0131 a0002c0007t0001g0157 a0006c0049t0001g0033 others(15): Show |
18 | 258 | 0.0698 | -7 | c.*15 others(22): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 67/67 | chr12 | TogoVar | |||||||
CFAP57_chr1_43167330_43259358 | 43186610 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(78): Show |
a0002a0003a0012others(4): Show | a0002c0006a0002c0019a0002c0028others(8): Show | a0002c0006t0001a0002c0019t0001a0002c0028t0001others(8): Show | a0002c0006t0001g0003 a0002c0006t0001g0036 a0002c0006t0001g0041 others(78): Show |
81 | 151 | 0.5364 | -7 | c.970 others(20): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20118294 | TTTCTTTC | T | intron_variant | MODIFIER | HG01109.hp1 HG02717.hp2 HG02896.hp2 others(1): Show |
a0002a0006 | a0002c0009a0006c0011 | a0002c0009t0001a0002c0009t0002a0006c0011t0002 | a0002c0009t0001g0105 a0002c0009t0002g0104 a0002c0009t0002g0106 others(1): Show |
4 | 234 | 0.0171 | -7 | c.859 others(26): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20338636 | CTTTAAAG | C | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02486.hp1 others(9): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0006a0001c0026others(3): Show | a0001c0001t0003a0001c0006t0003a0001c0026t0001others(6): Show | a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0090 others(9): Show |
12 | 234 | 0.0513 | -7 | c.342 others(26): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | |||||||
CFAP69_chr7_90240174_90316063 | 90264105 | ATATATAT | A | intron_variant | MODIFIER | HG00597.hp1 HG02615.hp1 HG02976.hp1 others(9): Show |
a0001 | a0001c0002a0001c0006a0001c0012 | a0001c0002t0002a0001c0006t0001a0001c0012t0002 | a0001c0002t0002g0027 a0001c0002t0002g0120 a0001c0002t0002g0126 others(9): Show |
12 | 229 | 0.0524 | -7 | c.357 others(24): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 4/22 | chr7 | TogoVar | |||||||
CFAP70_chr10_73248762_73363864 | 73256902 | CAAAAAAA | C | 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 | 200 | 0.3650 | -7 | c.323 others(24): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 26/27 | chr10 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1932073 | AAAAAAAC | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00544.hp2 others(58): Show |
a0001a0002a0004others(6): Show | a0001c0025a0001c0030a0001c0065others(17): Show | a0001c0025t0001a0001c0030t0001a0001c0065t0001others(17): Show | a0001c0025t0001g0010 a0001c0025t0001g0276 a0001c0030t0001g0045 others(58): Show |
61 | 276 | 0.2210 | -7 | c.301 others(26): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 25/38 | chr1 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132446743 | CAAAAAAA | C | intron_variant | MODIFIER | HG00735.hp1 HG01891.hp1 HG02109.hp1 others(11): Show |
a0001a0005a0007 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(4): Show | a0001c0001t0001g0174 a0001c0001t0001g0194 a0001c0001t0001g0211 others(11): Show |
14 | 220 | 0.0636 | -7 | c.195 others(26): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP90_chr5_7825378_7856133 | 7854351 | ATATATAT | A | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01261.hp1 HG02280.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0002a0002c0002t0001a0004c0004t0005 | a0001c0001t0002g0156 a0002c0002t0001g0006 a0004c0004t0005g0026 others(3): Show |
8 | 418 | 0.0191 | -7 | c.-33 others(18): Show |
CFAP90 | ENSG00000215217.7 | transcript | ENST00000399810.7 | protein_coding | 3219 | chr5 | TogoVar | |||||||
CFAP91_chr3_119698022_119772102 | 119738332 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG02145.hp1 others(4): Show |
a0001a0007a0013others(1): Show | a0001c0001a0001c0002a0007c0011others(2): Show | a0001c0001t0001a0001c0002t0002a0007c0011t0009others(2): Show | a0001c0001t0001g0219 a0001c0001t0001g0282 a0001c0002t0002g0038 others(4): Show |
7 | 19 | 0.3684 | -7 | c.146 others(24): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128918940 | ATTTTTTT | A | intron_variant | MODIFIER | HG02040.hp1 HG02055.hp2 HG02056.hp2 others(19): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0008 a0002c0002t0002g0099 a0002c0002t0002g0297 others(18): Show |
22 | 156 | 0.1410 | -7 | c.275 others(26): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 12/15 | chr3 | TogoVar | |||||||
CFAP92_chr3_128904873_128999076 | 128924432 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00642.hp2 others(46): Show |
a0001a0014 | a0001c0001a0001c0016a0014c0019 | a0001c0001t0001a0001c0001t0004a0001c0016t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(45): Show |
49 | 150 | 0.3267 | -7 | c.275 others(26): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 12/15 | chr3 | TogoVar | |||||||
CFAP92_chr3_128904873_128999076 | 128926246 | CGCCTGTA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(190): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0016others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(186): Show |
193 | 340 | 0.5676 | -7 | c.275 others(26): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 12/15 | chr3 | TogoVar | |||||||
CFAP92_chr3_128904873_128999076 | 128979944 | AATAATAT | A | intron_variant | MODIFIER | HG02922.hp2 HG02970.hp2 HG03209.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0319 others(1): Show |
4 | 340 | 0.0118 | -7 | c.668 others(24): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 4/15 | chr3 | TogoVar | |||||||
CFAP97_chr4_185154665_185209000 | 185170983 | CAAAAAAA | C | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0007t0011 | a0001c0001t0003g0154 a0001c0001t0003g0157 a0001c0001t0003g0177 others(2): Show |
6 | 8 | 0.7500 | -7 | c.132 others(26): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
CFAP99_chr4_2413955_2468002 | 2432981 | CCCCCAGG | C | intron_variant | MODIFIER | HG01255.hp2 HG02451.hp1 HG02486.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0017 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0027 a0001c0001t0001g0054 a0001c0001t0001g0205 others(10): Show |
14 | 347 | 0.0403 | -7 | c.112 others(24): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75301536 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG01109.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 others(40): Show |
43 | 145 | 0.2966 | -7 | c.809 others(24): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75346582 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG01433.hp1 HG02109.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0191 others(9): Show |
12 | 16 | 0.7500 | -7 | c.651 others(26): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349731 | GATCTTGT | G | intron_variant | MODIFIER | HG03041.hp2 HG03098.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 others(1): Show |
4 | 312 | 0.0128 | -7 | c.651 others(26): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75431911 | CTTTTTTT | C | intron_variant | MODIFIER | HG01433.hp1 HG02109.hp2 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 others(4): Show |
7 | 174 | 0.0402 | -7 | c.64+ others(22): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
CFD_chr19_854664_868641 | 864446 | GGCCCTGT | G | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0034 |
3 | 286 | 0.0105 | -7 | c.*12 others(18): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 806 | chr19 | TogoVar | |||||||
CFHR5_chr1_196972556_197014678 | 196996870 | AAGTAAGT | A | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG03139.hp1 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0005 | a0002c0004t0001g0119 a0002c0004t0001g0120 a0002c0004t0001g0121 others(1): Show |
5 | 354 | 0.0141 | -7 | c.970 others(22): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753554 | TATAAATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp2 others(84): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0014 others(78): Show |
87 | 330 | 0.2636 | -7 | c.905 others(24): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109753589 | AAATAAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp2 others(84): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0014 others(78): Show |
87 | 350 | 0.2486 | -7 | c.905 others(24): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFLAR_chr2_201111164_201181687 | 201114039 | TATATATA | T | upstream_gene_variant | MODIFIER | HG02615.hp1 HG03486.hp2 NA18906.hp1 |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0113 | a0001c0002t0011g0018 a0001c0002t0113g0200 |
3 | 232 | 0.0129 | -7 | c.-25 others(18): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2124 | chr2 | TogoVar | |||||||
CGB7_chr19_49049274_49062749 | 49060036 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG03831.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0051 a0001c0001t0002g0002 |
9 | 82 | 0.1098 | -7 | c.-39 others(18): Show |
CGB7 | ENSG00000196337.14 | transcript | ENST00000684222.1 | protein_coding | 2288 | chr19 | TogoVar | |||||||
CGNL1_chr15_57371505_57555717 | 57378363 | GTTTTTTT | G | intron_variant | MODIFIER | HG01256.hp2 HG01993.hp2 HG02080.hp1 others(20): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0039a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0044 a0001c0001t0001g0267 a0001c0001t0001g0272 others(20): Show |
23 | 38 | 0.6053 | -7 | c.-16 others(24): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57405829 | TTTCTTTC | T | intron_variant | MODIFIER | HG00621.hp2 HG01074.hp1 HG01256.hp2 others(24): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0011a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0065 a0001c0001t0001g0081 a0001c0001t0002g0067 others(24): Show |
27 | 287 | 0.0941 | -7 | c.-16 others(26): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57518141 | AAAAAAAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(69): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0001c0011others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0102 others(68): Show |
72 | 292 | 0.2466 | -7 | c.261 others(24): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGREF1_chr2_27095594_27124128 | 27116916 | TCTCTCTC | T | intron_variant | MODIFIER | HG00738.hp1 HG01192.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0054 a0001c0002t0004g0021 a0001c0002t0004g0119 |
4 | 350 | 0.0114 | -7 | c.-12 others(24): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CHAC1_chr15_40948471_40961512 | 40951595 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG02109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0009 |
10 | 299 | 0.0334 | -7 | c.-19 others(18): Show |
CHAC1 | ENSG00000128965.13 | transcript | ENST00000617768.5 | protein_coding | 1875 | chr15 | TogoVar | |||||||
CHAF1A_chr19_4397640_4448397 | 4408461 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00597.hp1 others(42): Show |
a0002a0005a0015 | a0002c0002a0005c0006a0015c0017 | a0002c0002t0002a0005c0006t0002a0015c0017t0002 | a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0004 others(37): Show |
45 | 88 | 0.5114 | -7 | c.104 others(22): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |