regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP299_chr4_80330730_80968750 | 80793099 | A | ATGTGTG | intron_variant | MODIFIER | HG00423.hp2 HG01168.hp1 HG02735.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0001g0063others(2): Show | 5 | 96 | 0.0521 | 6 | c.334 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80866059 | T | TTATATA | intron_variant | MODIFIER | HG02486.hp1 NA19043.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0036a0001c0003t0002g0037 | 2 | 96 | 0.0208 | 6 | c.334 others(23): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80868897 | T | TTCTCTC | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG02280.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0002c0002t0001a0002c0005t0001 | a0001c0001t0001g0040a0001c0001t0001g0042a0001c0001t0001g0043others(8): Show | 11 | 96 | 0.1146 | 6 | c.334 others(23): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80868905 | C | CTCTGTG | intron_variant | MODIFIER | HG00423.hp2 HG02486.hp1 HG03017.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0019a0001c0003t0002g0037a0001c0004t0001g0094others(1): Show | 4 | 96 | 0.0417 | 6 | c.334 others(23): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80895189 | C | CACACAT | intron_variant | MODIFIER | HG00423.hp2 HG01168.hp1 HG01243.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0001g0024others(13): Show | 16 | 96 | 0.1667 | 6 | c.476 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80900123 | A | AGTGTGT | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00642.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(23): Show | 26 | 96 | 0.2708 | 6 | c.476 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80902580 | A | AATATAT | intron_variant | MODIFIER | HG03225.hp2 NA19043.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0002c0002t0001 | a0001c0003t0002g0036a0002c0002t0001g0021 | 2 | 96 | 0.0208 | 6 | c.476 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80902586 | T | TACACAC | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG01109.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0010others(16): Show | 19 | 96 | 0.1979 | 6 | c.476 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80902586 | T | TATACAC | intron_variant | MODIFIER | HG02965.hp2 HG03041.hp1 |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0001 | a0002c0002t0001g0002a0002c0006t0001g0088 | 2 | 96 | 0.0208 | 6 | c.476 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80902586 | T | TATATAC | intron_variant | MODIFIER | HG00738.hp1 NA18984.hp1 NA19060.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008a0002c0002t0001g0012a0002c0002t0001g0045 | 3 | 96 | 0.0313 | 6 | c.476 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80916252 | A | AATATAT | intron_variant | MODIFIER | HG00408.hp2 HG02647.hp2 HG02897.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0018others(3): Show | 6 | 96 | 0.0625 | 6 | c.477 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80924514 | A | ATGTGTG | intron_variant | MODIFIER | HG02258.hp2 HG02922.hp2 HG03195.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0033others(3): Show | 6 | 96 | 0.0625 | 6 | c.477 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80924538 | G | GTGTGTA | intron_variant | MODIFIER | HG03130.hp1 NA18984.hp1 NA19060.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0009a0001c0001t0002g0030a0002c0002t0001g0008others(1): Show | 4 | 96 | 0.0417 | 6 | c.477 others(25): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80941661 | A | AAAAAAC | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG03225.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0001c0003t0002a0002c0002t0001 | a0001c0003t0001g0038a0001c0003t0002g0084a0002c0002t0001g0021others(1): Show | 4 | 96 | 0.0417 | 6 | c.477 others(23): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP300_chr11_102042437_102089554 | 102059281 | A | ATGTGTG | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0019a0001c0001t0004g0106 | 3 | 346 | 0.0087 | 6 | c.268 others(21): Show |
CFAP300 | ENSG00000137691.13 | transcript | ENST00000434758.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CFAP300_chr11_102042437_102089554 | 102077085 | T | TACACAC | intron_variant | MODIFIER | HG01167.hp1 HG01258.hp1 HG02148.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012a0001c0001t0003g0044a0001c0001t0003g0045others(6): Show | 12 | 346 | 0.0347 | 6 | c.608 others(23): Show |
CFAP300 | ENSG00000137691.13 | transcript | ENST00000434758.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CFAP36_chr2_55514718_55550079 | 55518462 | T | TAAAAAA | upstream_gene_variant | MODIFIER | HG01255.hp1 HG02145.hp1 HG02622.hp2 others(6): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0007 | a0001c0001t0001a0003c0003t0001a0006c0007t0001 | a0001c0001t0001g0139a0003c0003t0001g0003a0003c0003t0001g0045others(5): Show | 9 | 400 | 0.0225 | 6 | c.-13 others(17): Show |
CFAP36 | ENSG00000163001.12 | transcript | ENST00000349456.9 | protein_coding | 1255 | chr2 | TogoVar | ||||||
CFAP36_chr2_55514718_55550079 | 55521593 | A | ATGTGTG | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG01346.hp2 others(33): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0026others(19): Show | 36 | 400 | 0.0900 | 6 | c.116 others(21): Show |
CFAP36 | ENSG00000163001.12 | transcript | ENST00000349456.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFAP410_chr21_44323944_44344390 | 44325447 | A | AGGGGTG | downstream_gene_variant | MODIFIER | HG01496.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0007 | a0001c0001t0010g0209a0001c0002t0007g0282a0001c0002t0007g0283others(1): Show | 4 | 436 | 0.0092 | 6 | c.*47 others(17): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 3496 | chr21 | TogoVar | ||||||
CFAP418_chr8_95239913_95274201 | 95244596 | T | TACACAC | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG01099.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(15): Show | 36 | 388 | 0.0928 | 6 | c.*30 others(17): Show |
CFAP418 | ENSG00000156172.6 | transcript | ENST00000286688.6 | protein_coding | 316 | chr8 | TogoVar | ||||||
CFAP418_chr8_95239913_95274201 | 95270979 | A | AACACAC | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02809.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0053a0001c0001t0003g0115a0001c0001t0009g0034others(2): Show | 6 | 388 | 0.0155 | 6 | c.-17 others(17): Show |
CFAP418 | ENSG00000156172.6 | transcript | ENST00000286688.6 | protein_coding | 1779 | chr8 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104157736 | A | ATGTGTG | intron_variant | MODIFIER | NA18906.hp2 NA18998.hp1 NA18999.hp1 others(1): Show |
a0001a0009 | a0001c0001a0009c0013 | a0001c0001t0001a0009c0013t0001 | a0001c0001t0001g0040a0001c0001t0001g0049a0001c0001t0001g0113others(1): Show | 4 | 306 | 0.0131 | 6 | c.354 others(25): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 27/37 | chr10 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104220949 | C | CGTGTGT | intron_variant | MODIFIER | HG01884.hp2 HG03579.hp1 NA18988.hp1 others(2): Show |
a0001a0011 | a0001c0001a0011c0022 | a0001c0001t0001a0011c0022t0001 | a0001c0001t0001g0031a0001c0001t0001g0056a0001c0001t0001g0091others(2): Show | 5 | 306 | 0.0163 | 6 | c.416 others(23): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 3/37 | chr10 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104234506 | T | TCACACA | upstream_gene_variant | MODIFIER | HG01358.hp2 HG01496.hp2 HG02886.hp2 others(6): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0025 | a0001c0001t0001a0001c0003t0001a0007c0025t0001 | a0001c0001t0001g0022a0001c0001t0001g0031a0001c0001t0001g0041others(6): Show | 9 | 306 | 0.0294 | 6 | c.-22 others(17): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 2143 | chr10 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113312238 | A | ATTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00597.hp2 others(20): Show |
a0004a0023 | a0004c0004a0023c0037 | a0004c0004t0004a0004c0004t0006a0004c0004t0007others(4): Show | a0004c0004t0004g0305a0004c0004t0006g0288a0004c0004t0006g0289others(20): Show | 23 | 348 | 0.0661 | 6 | c.451 others(25): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 28/34 | chr3 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113327414 | A | ATTTACT | intron_variant | MODIFIER | HG01106.hp2 HG01891.hp2 HG02615.hp1 others(1): Show |
a0016a0017 | a0016c0024a0017c0039a0017c0040 | a0016c0024t0024a0017c0039t0066a0017c0040t0022 | a0016c0024t0024g0279a0016c0024t0024g0280a0017c0039t0066g0122others(1): Show | 4 | 348 | 0.0115 | 6 | c.432 others(23): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 27/34 | chr3 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113353453 | T | TACACAC | intron_variant | MODIFIER | HG01074.hp1 HG02074.hp2 HG03017.hp1 others(7): Show |
a0001a0005 | a0001c0001a0001c0014a0005c0005 | a0001c0001t0001a0001c0001t0026a0001c0001t0076others(5): Show | a0001c0001t0001g0180a0001c0001t0001g0181a0001c0001t0026g0326others(7): Show | 10 | 348 | 0.0287 | 6 | c.306 others(25): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 22/34 | chr3 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113375154 | T | TAGAGTG | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(236): Show |
a0001a0002a0003others(25): Show | a0001c0001a0002c0002a0003c0003others(29): Show | a0001c0001t0009a0001c0001t0022a0001c0001t0024others(86): Show | a0001c0001t0009g0330a0001c0001t0009g0332a0001c0001t0009g0333others(232): Show | 239 | 348 | 0.6868 | 6 | c.229 others(25): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 17/34 | chr3 | TogoVar | ||||||
CFAP45_chr1_159867364_159905165 | 159878753 | T | TAAAAAA | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02523.hp2 others(13): Show |
a0001a0006 | a0001c0002a0006c0008 | a0001c0002t0001a0006c0008t0001 | a0001c0002t0001g0021a0001c0002t0001g0055a0001c0002t0001g0067others(8): Show | 16 | 410 | 0.0390 | 6 | c.104 others(25): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132822830 | G | GTGTGCT | intron_variant | MODIFIER | HG02258.hp1 HG02572.hp2 HG02615.hp1 others(2): Show |
a0010 | a0010c0011a0010c0072 | a0010c0011t0001a0010c0072t0002 | a0010c0011t0001g0130a0010c0011t0001g0240a0010c0011t0001g0241others(2): Show | 5 | 246 | 0.0203 | 6 | c.711 others(25): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132824041 | C | CTGTGTG | intron_variant | MODIFIER | HG00544.hp2 NA19004.hp2 NA20905.hp2 |
a0028a0071 | a0028c0027a0071c0098 | a0028c0027t0002a0071c0098t0002 | a0028c0027t0002g0028a0028c0027t0002g0077a0071c0098t0002g0023 | 3 | 246 | 0.0122 | 6 | c.711 others(25): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132831220 | C | CTGTGTG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(16): Show |
a0002a0004a0009others(6): Show | a0002c0002a0002c0003a0004c0005others(8): Show | a0002c0002t0001a0002c0003t0001a0004c0005t0001others(9): Show | a0002c0002t0001g0215a0002c0003t0001g0138a0002c0003t0001g0139others(16): Show | 19 | 246 | 0.0772 | 6 | c.711 others(25): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35919326 | T | TTTCTCC | upstream_gene_variant | MODIFIER | HG01255.hp1 HG02559.hp2 HG02622.hp2 others(7): Show |
a0017a0021a0049others(4): Show | a0017c0020a0017c0063a0021c0021others(5): Show | a0017c0020t0001a0017c0063t0001a0021c0021t0001others(5): Show | a0017c0020t0001g0211a0017c0020t0001g0212a0017c0063t0001g0213others(7): Show | 10 | 216 | 0.0463 | 6 | c.-47 others(15): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 407 | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35923856 | T | TATGTAC | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02615.hp2 others(4): Show |
a0005a0010a0014others(2): Show | a0005c0015a0010c0007a0014c0016others(3): Show | a0005c0015t0001a0010c0007t0001a0014c0016t0001others(3): Show | a0005c0015t0001g0199a0010c0007t0001g0197a0010c0007t0001g0198others(4): Show | 7 | 216 | 0.0324 | 6 | c.250 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35923968 | T | TACACAC | intron_variant | MODIFIER | HG01891.hp2 HG02895.hp1 HG02897.hp2 |
a0010 | a0010c0007 | a0010c0007t0001 | a0010c0007t0001g0194a0010c0007t0001g0195a0010c0007t0001g0196 | 3 | 216 | 0.0139 | 6 | c.250 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35924012 | T | TATGTAC | intron_variant | MODIFIER | HG01891.hp2 HG02895.hp1 HG02897.hp2 |
a0010 | a0010c0007 | a0010c0007t0001 | a0010c0007t0001g0194a0010c0007t0001g0195a0010c0007t0001g0196 | 3 | 216 | 0.0139 | 6 | c.250 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35924023 | A | ATATGTG | intron_variant | MODIFIER | HG03225.hp1 NA20129.hp1 |
a0051a0052 | a0051c0059a0052c0060 | a0051c0059t0001a0052c0060t0001 | a0051c0059t0001g0215a0052c0060t0001g0208 | 2 | 216 | 0.0093 | 6 | c.250 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35924026 | T | TGTGTAC | intron_variant | MODIFIER | HG02717.hp1 | a0017 | a0017c0063 | a0017c0063t0001 | a0017c0063t0001g0213 | 1 | 216 | 0.0046 | 6 | c.250 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35924053 | A | ACCTATG | intron_variant | MODIFIER | HG02559.hp2 HG02717.hp1 HG02976.hp1 others(1): Show |
a0017a0021 | a0017c0020a0017c0063a0021c0021 | a0017c0020t0001a0017c0063t0001a0021c0021t0001 | a0017c0020t0001g0212a0017c0063t0001g0213a0021c0021t0001g0209others(1): Show | 4 | 216 | 0.0185 | 6 | c.250 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35924083 | A | ACCTATG | intron_variant | MODIFIER | HG02559.hp2 HG02717.hp1 HG02886.hp2 others(3): Show |
a0011a0014a0017others(1): Show | a0011c0054a0014c0016a0017c0020others(2): Show | a0011c0054t0001a0014c0016t0001a0017c0020t0001others(2): Show | a0011c0054t0001g0201a0014c0016t0001g0193a0017c0020t0001g0212others(3): Show | 6 | 216 | 0.0278 | 6 | c.250 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35924113 | A | ACCTATG | intron_variant | MODIFIER | HG01255.hp1 HG02559.hp2 HG02717.hp1 others(8): Show |
a0007a0011a0017others(5): Show | a0007c0077a0011c0076a0017c0020others(6): Show | a0007c0077t0001a0011c0076t0001a0017c0020t0001others(6): Show | a0007c0077t0001g0140a0011c0076t0001g0141a0017c0020t0001g0211others(8): Show | 11 | 216 | 0.0509 | 6 | c.250 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35924143 | A | ACCTATG | intron_variant | MODIFIER | HG01255.hp1 HG02559.hp2 HG02717.hp1 others(8): Show |
a0007a0011a0017others(5): Show | a0007c0077a0011c0076a0017c0020others(6): Show | a0007c0077t0001a0011c0076t0001a0017c0020t0001others(6): Show | a0007c0077t0001g0140a0011c0076t0001g0141a0017c0020t0001g0211others(8): Show | 11 | 216 | 0.0509 | 6 | c.250 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35924173 | A | ACCTATG | intron_variant | MODIFIER | HG01255.hp1 HG02886.hp2 HG03041.hp1 others(2): Show |
a0011a0014a0017others(1): Show | a0011c0054a0014c0016a0017c0020others(1): Show | a0011c0054t0001a0014c0016t0001a0017c0020t0001others(1): Show | a0011c0054t0001g0201a0014c0016t0001g0193a0014c0016t0001g0200others(2): Show | 5 | 216 | 0.0232 | 6 | c.250 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35924205 | A | ACATATG | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02615.hp1 others(6): Show |
a0005a0010a0015others(1): Show | a0005c0015a0010c0007a0015c0018others(2): Show | a0005c0015t0001a0010c0007t0001a0015c0018t0001others(2): Show | a0005c0015t0001g0199a0010c0007t0001g0194a0010c0007t0001g0195others(6): Show | 9 | 216 | 0.0417 | 6 | c.250 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35924205 | A | ACCTATG | intron_variant | MODIFIER | NA19240.hp2 | a0014 | a0014c0016 | a0014c0016t0001 | a0014c0016t0001g0200 | 1 | 216 | 0.0046 | 6 | c.250 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35924257 | A | ACATATG | intron_variant | MODIFIER | HG02559.hp2 HG02717.hp1 HG02809.hp2 others(4): Show |
a0007a0011a0017others(2): Show | a0007c0077a0011c0076a0017c0020others(3): Show | a0007c0077t0001a0011c0076t0001a0017c0020t0001others(3): Show | a0007c0077t0001g0140a0011c0076t0001g0141a0017c0020t0001g0212others(4): Show | 7 | 216 | 0.0324 | 6 | c.250 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35924257 | A | ACCTATG | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02615.hp1 others(6): Show |
a0005a0010a0015others(1): Show | a0005c0015a0010c0007a0015c0018others(2): Show | a0005c0015t0001a0010c0007t0001a0015c0018t0001others(2): Show | a0005c0015t0001g0199a0010c0007t0001g0194a0010c0007t0001g0195others(6): Show | 9 | 216 | 0.0417 | 6 | c.250 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35924287 | A | ACATATG | intron_variant | MODIFIER | HG02559.hp2 HG02717.hp1 HG02809.hp2 others(5): Show |
a0007a0011a0014others(3): Show | a0007c0077a0011c0076a0014c0016others(4): Show | a0007c0077t0001a0011c0076t0001a0014c0016t0001others(4): Show | a0007c0077t0001g0140a0011c0076t0001g0141a0014c0016t0001g0200others(5): Show | 8 | 216 | 0.0370 | 6 | c.250 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35924298 | C | CAGGTGT | intron_variant | MODIFIER | HG01255.hp1 NA21309.hp2 |
a0017a0049 | a0017c0020a0049c0058 | a0017c0020t0001a0049c0058t0001 | a0017c0020t0001g0211a0049c0058t0001g0207 | 2 | 216 | 0.0093 | 6 | c.250 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP47_chrX_35914734_36390317 | 35924405 | A | ATATGTG | intron_variant | MODIFIER | HG01255.hp1 | a0049 | a0049c0058 | a0049c0058t0001 | a0049c0058t0001g0207 | 1 | 216 | 0.0046 | 6 | c.250 others(23): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | chrX | TogoVar |