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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP295NL_chr17_78885579_78908201 | 78893260 | G | GGGGTGTG others(21): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02970.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0066 a0002c0002t0002g0096 |
2 | 428 | 0.0047 | 28 | c.45- others(41): Show |
CEP295NL | ENSG00000178404.11 | transcript | ENST00000322630.3 | protein_coding | 2/2 | chr17 | TogoVar | |||||||
CEP295NL_chr17_78885579_78908201 | 78904091 | A | ATGTGTGT others(21): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 HG03139.hp1 NA18906.hp2 |
a0002a0006a0016 | a0002c0002a0006c0005a0016c0026 | a0002c0002t0002a0006c0005t0002a0016c0026t0002 | a0002c0002t0002g0020 a0006c0005t0002g0077 a0016c0026t0002g0112 |
3 | 250 | 0.0120 | 28 | c.-10 others(39): Show |
CEP295NL | ENSG00000178404.11 | transcript | ENST00000322630.3 | protein_coding | 891 | chr17 | TogoVar | |||||||
CEP350_chr1_179949810_180119875 | 180004906 | G | GCTTGCTT others(21): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0020 | a0002c0020t0019 | a0002c0020t0019g0011 | 1 | 46 | 0.0217 | 28 | c.113 others(47): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP43_chr6_166994397_167057718 | 167042814 | T | TTGTGTGT others(21): Show |
3_prime_UTR_variant | MODIFIER | HG01928.hp1 HG03130.hp2 HG03688.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0107a0001c0001t0176a0001c0001t0185others(2): Show | a0001c0001t0107g0155 a0001c0001t0176g0267 a0001c0001t0185g0135 others(2): Show |
5 | 17 | 0.2941 | 28 | c.*28 others(39): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 13/13 | 2862 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP44_chr4_174278911_174325328 | 174320700 | G | GTGTGTGT others(21): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 386 | 0.0026 | 28 | c.*33 others(39): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 373 | chr4 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGG others(21): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0234 | 1 | 117 | 0.0085 | 28 | c.232 others(47): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGG others(21): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0258 | 1 | 117 | 0.0085 | 28 | c.232 others(47): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118614865 | C | CAGACAGA others(21): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0283 | 1 | 192 | 0.0052 | 28 | c.232 others(47): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85_chr1_26229200_26283808 | 26248722 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01358.hp2 NA18952.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0103 a0001c0001t0003g0134 a0001c0001t0003g0144 |
3 | 100 | 0.0300 | 28 | c.208 others(45): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181609533 | T | TAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG02738.hp2 others(10): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0002a0002c0003t0004a0002c0003t0009others(4): Show | a0002c0003t0002g0123 a0002c0003t0004g0096 a0002c0003t0004g0102 others(10): Show |
13 | 46 | 0.2826 | 28 | c.239 others(45): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100466812 | C | CCTCTCTC others(21): Show |
intron_variant | MODIFIER | HG01261.hp1 HG06807.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0038 | a0001c0001t0001g0185 a0001c0001t0001g0208 a0001c0001t0038g0346 |
3 | 151 | 0.0199 | 28 | c.845 others(45): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100467874 | G | GATAGATA others(21): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0241 | 1 | 328 | 0.0030 | 28 | c.845 others(45): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8266863 | C | CAAAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0083 | 1 | 55 | 0.0182 | 28 | c.*47 others(39): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4443 | chr19 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8267294 | C | CAAAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG01978.hp1 NA18970.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0004 | a0001c0001t0002g0282 a0002c0003t0004g0223 a0002c0003t0004g0244 |
3 | 110 | 0.0273 | 28 | c.*51 others(39): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4874 | chr19 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50148925 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0307 | 1 | 210 | 0.0048 | 28 | c.198 others(45): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50156420 | C | CTATATAT others(21): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0202 | 1 | 141 | 0.0071 | 28 | c.197 others(47): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168486518 | G | GTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0155 | 1 | 157 | 0.0064 | 28 | c.170 others(47): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168520598 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0007 | a0002c0007t0005 | a0002c0007t0005g0018 | 1 | 17 | 0.0588 | 28 | c.171 others(47): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168559733 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG02257.hp1 HG06807.hp2 NA18906.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0007 | a0001c0001t0001g0120 a0001c0001t0002g0017 a0001c0006t0007g0010 |
3 | 27 | 0.1111 | 28 | c.277 others(45): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168559733 | T | TTTTTTAT others(21): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 25 | 0.0400 | 28 | c.277 others(45): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | chr2 | TogoVar | |||||||
CERT1_chr5_75372775_75516629 | 75393602 | T | TAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01169.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0031 a0001c0001t0002g0209 a0001c0001t0007g0184 others(2): Show |
5 | 13 | 0.3846 | 28 | c.118 others(47): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 11/16 | chr5 | TogoVar | |||||||
CES1_chr16_55797851_55838096 | 55835677 | G | GAGAGAGG others(21): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 16 | 0.1250 | 28 | c.-26 others(39): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2582 | chr16 | TogoVar | |||||||
CES1_chr16_55797851_55838096 | 55835677 | G | GAGGAAGG others(21): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG01256.hp2 NA18953.hp1 others(5): Show |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0001a0008c0007t0001 | a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 others(5): Show |
8 | 22 | 0.3636 | 28 | c.-26 others(39): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2582 | chr16 | TogoVar | |||||||
CES5A_chr16_55841154_55880373 | 55854527 | G | GTTTCTTT others(21): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01192.hp1 HG03579.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0005a0003c0011others(2): Show | a0001c0001t0001a0001c0001t0003a0002c0005t0001others(4): Show | a0001c0001t0001g0338 a0001c0001t0001g0370 a0001c0001t0003g0040 others(8): Show |
11 | 429 | 0.0256 | 28 | c.112 others(47): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 9/12 | chr16 | TogoVar | |||||||
CES5A_chr16_55841154_55880373 | 55854532 | T | TTTCTGTT others(21): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0256 | 1 | 332 | 0.0030 | 28 | c.112 others(47): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 9/12 | chr16 | TogoVar | |||||||
CES5A_chr16_55841154_55880373 | 55866658 | T | TAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0055 | 1 | 284 | 0.0035 | 28 | c.552 others(43): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 4/12 | chr16 | TogoVar | |||||||
CETN1_chr18_575380_587114 | 576446 | G | GAGAGAGG others(21): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0000 | 1 | 118 | 0.0085 | 28 | c.-39 others(39): Show |
CETN1 | ENSG00000177143.5 | transcript | ENST00000327228.5 | protein_coding | 3933 | chr18 | TogoVar | |||||||
CETN1_chr18_575380_587114 | 576446 | G | GAGGAAGG others(21): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 118 | 0.0085 | 28 | c.-39 others(39): Show |
CETN1 | ENSG00000177143.5 | transcript | ENST00000327228.5 | protein_coding | 3933 | chr18 | TogoVar | |||||||
CFAP251_chr12_121913592_122008919 | 121944178 | G | GTGCCAGG others(21): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0245 | 1 | 352 | 0.0028 | 28 | c.119 others(47): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP276_chr1_109100951_109117747 | 109113451 | A | AGAGAGAG others(21): Show |
upstream_gene_variant | MODIFIER | NA18951.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 276 | 0.0072 | 28 | c.-77 others(37): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 705 | chr1 | TogoVar | |||||||
CFAP298_chr21_32594354_32617377 | 32611338 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0188 | 1 | 398 | 0.0025 | 28 | c.139 others(43): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1/6 | chr21 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80800505 | T | TATATAAT others(21): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00639.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 others(9): Show |
12 | 93 | 0.1290 | 28 | c.334 others(47): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80800515 | A | ATAATATA others(21): Show |
intron_variant | MODIFIER | NA18957.hp2 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0053 |
2 | 95 | 0.0211 | 28 | c.334 others(47): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80800557 | T | TTATATAA others(21): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 64 | 0.0156 | 28 | c.334 others(47): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80866059 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 6 | 0.1667 | 28 | c.334 others(45): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP410_chr21_44323944_44344390 | 44334520 | C | CCCCCTCA others(21): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00673.hp1 others(59): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0021others(9): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0016 others(38): Show |
62 | 429 | 0.1445 | 28 | c.143 others(45): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 3/6 | chr21 | TogoVar | |||||||
CFAP410_chr21_44323944_44344390 | 44334521 | C | CCCCCTCA others(21): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03225.hp2 NA19043.hp2 |
a0001a0005 | a0001c0002a0005c0007 | a0001c0002t0006a0005c0007t0001 | a0001c0002t0006g0057 a0001c0002t0006g0060 a0005c0007t0001g0214 |
3 | 390 | 0.0077 | 28 | c.143 others(45): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 3/6 | chr21 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113320416 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0025 | a0025c0042 | a0025c0042t0078 | a0025c0042t0078g0318 | 1 | 342 | 0.0029 | 28 | c.451 others(47): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 28/34 | chr3 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113320423 | A | ATGATATA others(21): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01106.hp2 HG01891.hp2 others(26): Show |
a0005a0009a0012others(4): Show | a0005c0005a0009c0010a0012c0017others(5): Show | a0005c0005t0010a0005c0005t0012a0005c0005t0015others(13): Show | a0005c0005t0010g0009 a0005c0005t0010g0010 a0005c0005t0010g0011 others(26): Show |
29 | 317 | 0.0915 | 28 | c.451 others(47): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 28/34 | chr3 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113320423 | A | ATGATATA others(21): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00558.hp1 others(22): Show |
a0004a0022 | a0004c0004a0004c0043a0022c0037 | a0004c0004t0004a0004c0004t0006a0004c0004t0007others(5): Show | a0004c0004t0004g0302 a0004c0004t0006g0286 a0004c0004t0006g0287 others(22): Show |
25 | 313 | 0.0799 | 28 | c.451 others(47): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 28/34 | chr3 | TogoVar | |||||||
CFAP45_chr1_159867364_159905165 | 159878753 | T | TAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00597.hp2 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 a0001c0001t0001g0245 |
2 | 34 | 0.0588 | 28 | c.104 others(47): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888308 | C | CCCTGCCA others(21): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0029 | a0001c0029t0002 | a0001c0029t0002g0009 | 1 | 238 | 0.0042 | 28 | c.330 others(47): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888594 | G | GCACCTGC others(21): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0010 | a0010c0072 | a0010c0072t0002 | a0010c0072t0002g0004 | 1 | 198 | 0.0051 | 28 | c.330 others(47): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888598 | C | CCCTGCCG others(21): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0045 | a0045c0107 | a0045c0107t0002 | a0045c0107t0002g0103 | 1 | 242 | 0.0041 | 28 | c.330 others(47): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888742 | C | CCCTGCCA others(21): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 214 | 0.0047 | 28 | c.330 others(47): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888742 | C | CCCTGCCG others(21): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0175 | 1 | 214 | 0.0047 | 28 | c.330 others(47): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888742 | C | CCCTGCCG others(21): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0033 | a0033c0074 | a0033c0074t0002 | a0033c0074t0002g0006 | 1 | 214 | 0.0047 | 28 | c.330 others(47): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888848 | G | GCCTGCAC others(21): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(56): Show |
a0002a0003a0004others(11): Show | a0002c0002a0002c0003a0002c0023others(18): Show | a0002c0002t0001a0002c0003t0001a0002c0023t0001others(19): Show | a0002c0002t0001g0126 a0002c0002t0001g0134 a0002c0002t0001g0137 others(55): Show |
59 | 240 | 0.2458 | 28 | c.330 others(47): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 35923874 | T | TATACACA others(21): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02976.hp1 |
a0020 | a0020c0021 | a0020c0021t0001 | a0020c0021t0001g0214 a0020c0021t0001g0215 |
2 | 202 | 0.0099 | 28 | c.250 others(45): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35923906 | C | CATACATA others(21): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0017 | a0017c0016 | a0017c0016t0001 | a0017c0016t0001g0192 | 1 | 195 | 0.0051 | 28 | c.250 others(45): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar |