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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP85L_chr6_118455772_118656591 | 118600294 | C | CTGGGGGG others(8): Show |
intron_variant | MODIFIER | HG02572.hp2 NA19077.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0179 a0002c0002t0002g0193 |
2 | 244 | 0.0082 | 15 | c.232 others(34): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGT others(8): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0257 | 1 | 117 | 0.0085 | 15 | c.232 others(34): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GTGTGTGT others(8): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18974.hp2 |
a0001a0011 | a0001c0001a0011c0010 | a0001c0001t0001a0011c0010t0003 | a0001c0001t0001g0170 a0011c0010t0003g0015 |
2 | 118 | 0.0169 | 15 | c.232 others(34): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85_chr1_26229200_26283808 | 26248722 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0112 | 1 | 98 | 0.0102 | 15 | c.208 others(32): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26256928 | G | GTGTGTGT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG01081.hp1 others(38): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0007 | a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0178 others(37): Show |
41 | 60 | 0.6833 | 15 | c.904 others(30): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 4/13 | chr1 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32899581 | C | CAATCTAC others(8): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0005 | a0005c0006 | a0005c0006t0007 | a0005c0006t0007g0131 a0005c0006t0007g0136 |
2 | 384 | 0.0052 | 15 | c.187 others(32): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 16/18 | chr19 | TogoVar | |||||||
CEPT1_chr1_111135223_111190104 | 111149266 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02572.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0235 others(4): Show |
9 | 259 | 0.0347 | 15 | c.339 others(32): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEPT1_chr1_111135223_111190104 | 111154187 | G | GTATTTTA others(8): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18956.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 a0001c0001t0001g0151 |
2 | 37 | 0.0541 | 15 | c.340 others(32): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CERCAM_chr9_128415857_128442347 | 128416839 | G | GACTTTGT others(8): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG02040.hp2 NA18612.hp2 others(9): Show |
a0001a0009 | a0001c0001a0009c0021 | a0001c0001t0001a0009c0021t0001 | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0098 others(4): Show |
12 | 398 | 0.0302 | 15 | c.-40 others(26): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 4017 | chr9 | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128416841 | C | CTTTGTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG01109.hp2 others(14): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0011others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0003others(3): Show | a0001c0002t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0185 others(12): Show |
17 | 351 | 0.0484 | 15 | c.-40 others(26): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 4015 | chr9 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181599535 | T | TCAAAACA others(8): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00673.hp1 others(50): Show |
a0002 | a0002c0003a0002c0004a0002c0009 | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(11): Show | a0002c0003t0001g0098 a0002c0003t0002g0123 a0002c0003t0003g0106 others(50): Show |
53 | 265 | 0.2000 | 15 | c.481 others(32): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
CERK_chr22_46679410_46743252 | 46692426 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0005 | a0001c0005t0028 | a0001c0005t0028g0293 | 1 | 188 | 0.0053 | 15 | c.112 others(32): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 10/12 | chr22 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100413510 | G | GACTATAC others(8): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0186 | 1 | 71 | 0.0141 | 15 | c.100 others(36): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8214975 | A | AAGGAAGA others(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp1 others(61): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(10): Show | a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 others(61): Show |
64 | 416 | 0.1538 | 15 | c.-2+ others(30): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8231851 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02895.hp1 |
a0003 | a0003c0004a0003c0014 | a0003c0004t0001a0003c0014t0001 | a0003c0004t0001g0106 a0003c0014t0001g0406 |
2 | 41 | 0.0488 | 15 | c.-1- others(32): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8267294 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 NA18956.hp2 NA18964.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0004others(2): Show | a0001c0001t0002g0135 a0001c0001t0002g0213 a0001c0001t0003g0143 others(8): Show |
12 | 119 | 0.1008 | 15 | c.*51 others(26): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4874 | chr19 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50148925 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA18981.hp2 NA19058.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0284 a0001c0002t0002g0297 |
2 | 211 | 0.0095 | 15 | c.198 others(32): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50148927 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0276 | 1 | 179 | 0.0056 | 15 | c.198 others(32): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50161784 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00621.hp1 others(54): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0016 a0001c0001t0001g0074 a0001c0001t0001g0079 others(54): Show |
57 | 139 | 0.4101 | 15 | c.197 others(32): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168455505 | T | TATCATCA others(8): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01261.hp1 others(31): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0139 others(31): Show |
34 | 55 | 0.6182 | 15 | c.-94 others(24): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 766 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168486518 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 157 | 0.0064 | 15 | c.170 others(34): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168520598 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0079 | 1 | 17 | 0.0588 | 15 | c.171 others(34): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75393602 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01516.hp1 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0186 a0001c0001t0002g0211 |
2 | 10 | 0.2000 | 15 | c.118 others(34): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 11/16 | chr5 | TogoVar | |||||||
CERT1_chr5_75372775_75516629 | 75421034 | C | CCTGAGCT others(8): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0291 | 1 | 334 | 0.0030 | 15 | c.596 others(32): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 5/16 | chr5 | TogoVar | |||||||
CERT1_chr5_75372775_75516629 | 75509614 | G | GAAAAGAG others(8): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0305 | 1 | 334 | 0.0030 | 15 | c.96+ others(30): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
CES5A_chr16_55841154_55880373 | 55854527 | G | GTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG02165.hp2 others(16): Show |
a0001a0008a0011others(2): Show | a0001c0002a0001c0010a0008c0009others(3): Show | a0001c0002t0005a0001c0010t0002a0001c0010t0003others(6): Show | a0001c0002t0005g0185 a0001c0010t0002g0031 a0001c0010t0003g0003 others(12): Show |
19 | 437 | 0.0435 | 15 | c.112 others(34): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 9/12 | chr16 | TogoVar | |||||||
CES5A_chr16_55841154_55880373 | 55854531 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19081.hp1 |
a0004a0009 | a0004c0006a0009c0012 | a0004c0006t0005a0009c0012t0001 | a0004c0006t0005g0158 a0009c0012t0001g0383 |
2 | 277 | 0.0072 | 15 | c.112 others(34): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 9/12 | chr16 | TogoVar | |||||||
CETP_chr16_56956950_56988845 | 56960004 | A | AAAGAAAG others(8): Show |
upstream_gene_variant | MODIFIER | NA18991.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0251 | 1 | 459 | 0.0022 | 15 | c.-19 others(26): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 1945 | chr16 | TogoVar | |||||||
CFAP100_chr3_126389909_126441556 | 126420844 | C | CTTATTGG others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(111): Show |
a0001a0004a0005others(4): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0023 a0001c0001t0001g0153 a0001c0001t0002g0197 others(92): Show |
114 | 420 | 0.2714 | 15 | c.108 others(32): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 11/16 | chr3 | TogoVar | |||||||
CFAP157_chr9_127701988_127721002 | 127720881 | T | TCCCCTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0014 | 1 | 337 | 0.0030 | 15 | c.*69 others(26): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4880 | chr9 | TogoVar | |||||||
CFAP206_chr6_87402972_87469465 | 87447951 | T | TATATTAT others(8): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 147 | 0.0068 | 15 | c.149 others(36): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 11/12 | chr6 | TogoVar | |||||||
CFAP206_chr6_87402972_87469465 | 87447951 | T | TTTATTAT others(8): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG02717.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 others(5): Show |
8 | 154 | 0.0519 | 15 | c.149 others(36): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58931654 | A | AGGCAAAT others(8): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00639.hp1 others(49): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0011 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0037 a0001c0001t0001g0076 a0001c0001t0001g0120 others(49): Show |
52 | 201 | 0.2587 | 15 | c.393 others(32): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 5/16 | chr3 | TogoVar | |||||||
CFAP20_chr16_58108592_58134381 | 58114525 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0122 | 1 | 349 | 0.0029 | 15 | c.576 others(30): Show |
CFAP20 | ENSG00000070761.8 | transcript | ENST00000262498.8 | protein_coding | 5/5 | chr16 | TogoVar | |||||||
CFAP251_chr12_121913592_122008919 | 121921491 | G | GGAGGAGG others(8): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001a0002a0004others(3): Show | a0001c0003a0001c0004a0001c0005others(18): Show | a0001c0003t0001a0001c0004t0001a0001c0005t0001others(19): Show | a0001c0003t0001g0057 a0001c0003t0001g0087 a0001c0003t0001g0088 others(298): Show |
303 | 352 | 0.8608 | 15 | c.196 others(22): Show |
p.Glu others(26): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 2/22 | 321/3729 | 197/3450 | 66/1149 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
CFAP251_chr12_121913592_122008919 | 121952240 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02738.hp1 NA18961.hp2 others(1): Show |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0037 a0003c0002t0001g0045 a0003c0002t0001g0050 others(1): Show |
4 | 28 | 0.1429 | 15 | c.132 others(32): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121966176 | C | CCCCTCCC others(8): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG03490.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0089 a0001c0003t0001g0094 a0001c0003t0001g0102 others(3): Show |
6 | 352 | 0.0170 | 15 | c.249 others(32): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121966226 | C | CCCCTCCC others(8): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18978.hp1 NA18999.hp1 others(2): Show |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0058 a0001c0009t0001g0059 a0001c0009t0001g0061 others(2): Show |
5 | 322 | 0.0155 | 15 | c.249 others(32): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121978393 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01167.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0057 a0001c0003t0001g0091 a0001c0003t0001g0098 others(6): Show |
9 | 31 | 0.2903 | 15 | c.300 others(34): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP276_chr1_109100951_109117747 | 109113398 | G | GAGAGAGA others(8): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0012 |
2 | 402 | 0.0050 | 15 | c.-73 others(24): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 652 | chr1 | TogoVar | |||||||
CFAP276_chr1_109100951_109117747 | 109113416 | A | AGAGAGAG others(8): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 61 | 0.0164 | 15 | c.-73 others(24): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 670 | chr1 | TogoVar | |||||||
CFAP276_chr1_109100951_109117747 | 109113451 | A | AGAGAGAG others(8): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 275 | 0.0036 | 15 | c.-77 others(24): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 705 | chr1 | TogoVar | |||||||
CFAP298_chr21_32594354_32617377 | 32598545 | C | CTTCTTCT others(8): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0194 | 1 | 400 | 0.0025 | 15 | c.*33 others(26): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 808 | chr21 | TogoVar | |||||||
CFAP298_chr21_32594354_32617377 | 32611339 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0217 | 1 | 345 | 0.0029 | 15 | c.139 others(30): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1/6 | chr21 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113324042 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02738.hp1 HG03098.hp2 |
a0004a0009a0025 | a0004c0043a0009c0010a0025c0042 | a0004c0043t0057a0009c0010t0043a0025c0042t0078 | a0004c0043t0057g0274 a0009c0010t0043g0052 a0025c0042t0078g0318 |
3 | 266 | 0.0113 | 15 | c.451 others(34): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 28/34 | chr3 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113433429 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG01175.hp1 others(8): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0002a0002c0002t0005a0002c0002t0006others(4): Show | a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 others(8): Show |
11 | 119 | 0.0924 | 15 | c.100 others(30): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 2/34 | chr3 | TogoVar | |||||||
CFAP45_chr1_159867364_159905165 | 159873849 | C | CCTTCCTT others(8): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0252 |
3 | 158 | 0.0190 | 15 | c.135 others(32): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
CFAP45_chr1_159867364_159905165 | 159878753 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp1 others(14): Show |
a0001a0002a0008 | a0001c0001a0002c0003a0008c0009 | a0001c0001t0001a0002c0003t0001a0008c0009t0001 | a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0147 others(9): Show |
17 | 49 | 0.3469 | 15 | c.104 others(34): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132820767 | G | GAGTGCTG others(8): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0052 | a0052c0037 | a0052c0037t0001 | a0052c0037t0001g0230 | 1 | 244 | 0.0041 | 15 | c.711 others(34): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132854323 | G | GTGTTTTG others(8): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01255.hp2 HG01256.hp2 others(6): Show |
a0006a0040a0041others(1): Show | a0006c0004a0040c0087a0041c0077others(1): Show | a0006c0004t0002a0040c0087t0003a0041c0077t0001others(1): Show | a0006c0004t0002g0025 a0006c0004t0002g0109 a0006c0004t0002g0110 others(6): Show |
9 | 188 | 0.0479 | 15 | c.557 others(34): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 39/57 | chr10 | TogoVar |