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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP128_chr14_80491479_80946738 | 80563524 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02080.hp2 HG02132.hp1 others(6): Show |
a0001a0008a0013 | a0001c0001a0008c0011a0013c0021 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0034a0001c0001t0001g0046a0001c0001t0002g0132others(6): Show | 9 | 164 | 0.0549 | 9 | c.285 others(28): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 20/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80596819 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02922.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0009a0001c0014others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0009t0006others(2): Show | a0001c0001t0002g0156a0001c0001t0004g0160a0001c0001t0004g0162others(3): Show | 6 | 164 | 0.0366 | 9 | c.280 others(30): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80617219 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01123.hp2 HG01192.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0005a0002c0002t0003a0002c0002t0004others(2): Show | a0001c0001t0005g0053a0002c0002t0003g0066a0002c0002t0004g0070others(3): Show | 6 | 164 | 0.0366 | 9 | c.280 others(30): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80629155 | A | ATTTTATT others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG00735.hp1 others(135): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0008a0001c0009others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(33): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0012others(135): Show | 138 | 164 | 0.8415 | 9 | c.280 others(30): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80678049 | A | AAAAATAT others(2): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02970.hp2 HG03041.hp1 others(9): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0015a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0029a0001c0001t0003g0149a0001c0001t0005g0051others(9): Show | 12 | 164 | 0.0732 | 9 | c.280 others(30): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80880908 | A | AATAATTA others(2): Show |
intron_variant | MODIFIER | NA19240.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0003a0001c0001t0005g0002 | 2 | 164 | 0.0122 | 9 | c.645 others(28): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 8/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80880910 | T | TAATAATA others(2): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03516.hp2 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0012a0005c0005t0001g0008 | 2 | 164 | 0.0122 | 9 | c.645 others(28): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 8/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80935646 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01123.hp1 HG01243.hp1 others(12): Show |
a0001a0004a0009 | a0001c0001a0001c0022a0004c0004others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0022t0005others(2): Show | a0001c0001t0002g0102a0001c0001t0002g0104a0001c0001t0002g0106others(12): Show | 15 | 164 | 0.0915 | 9 | c.-16 others(26): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 2/24 | chr14 | TogoVar | ||||||
CEP135_chr4_55943945_56038361 | 55961764 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG03927.hp2 NA18946.hp2 others(3): Show |
a0001a0012 | a0001c0001a0012c0014 | a0001c0001t0002a0012c0014t0002 | a0001c0001t0002g0071a0001c0001t0002g0072a0001c0001t0002g0093others(3): Show | 6 | 346 | 0.0173 | 9 | c.699 others(26): Show |
CEP135 | ENSG00000174799.12 | transcript | ENST00000257287.5 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CEP152_chr15_48732938_48816069 | 48741130 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01071.hp2 HG01169.hp2 others(8): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0107a0001c0001t0001g0215others(7): Show | 11 | 342 | 0.0322 | 9 | c.409 others(26): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 26/26 | chr15 | TogoVar | ||||||
CEP152_chr15_48732938_48816069 | 48787163 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(73): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0009a0003c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(70): Show | 76 | 342 | 0.2222 | 9 | c.117 others(28): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 9/26 | chr15 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84159548 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02809.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0012 | a0001c0001t0002a0002c0012t0002 | a0001c0001t0002g0140a0001c0001t0002g0199a0001c0001t0002g0201others(1): Show | 4 | 214 | 0.0187 | 9 | c.278 others(28): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | ||||||
CEP164_chr11_117322854_117418266 | 117355999 | G | GAGCAGCA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(79): Show |
a0003a0005a0006others(7): Show | a0003c0003a0003c0022a0005c0006others(9): Show | a0003c0003t0002a0003c0003t0004a0003c0003t0005others(14): Show | a0003c0003t0002g0128a0003c0003t0004g0006a0003c0003t0004g0034others(77): Show | 82 | 390 | 0.2103 | 9 | c.393 others(26): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP170_chr1_243119428_243260281 | 243231190 | C | CATCATCA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG01928.hp2 others(7): Show |
a0002a0007 | a0002c0002a0002c0021a0007c0011 | a0002c0002t0001a0002c0002t0006a0002c0021t0001others(1): Show | a0002c0002t0001g0164a0002c0002t0001g0166a0002c0002t0001g0169others(7): Show | 10 | 303 | 0.0330 | 9 | c.-41 others(26): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
CEP192_chr18_12986362_13130036 | 13000091 | C | CTCTCTTT others(2): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02976.hp1 HG03209.hp2 others(6): Show |
a0002a0009 | a0002c0001a0009c0009 | a0002c0001t0001a0009c0009t0001 | a0002c0001t0001g0319a0002c0001t0001g0320a0002c0001t0001g0321others(6): Show | 9 | 392 | 0.0230 | 9 | c.164 others(24): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 2/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CEP20_chr16_15860719_15893603 | 15861477 | A | AAATAATA others(2): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01109.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0045others(4): Show | 8 | 433 | 0.0185 | 9 | c.*59 others(20): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 4241 | chr16 | TogoVar | ||||||
CEP20_chr16_15860719_15893603 | 15890556 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01167.hp2 HG01516.hp2 others(17): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0008a0002c0002t0004g0012a0002c0002t0004g0015others(9): Show | 20 | 433 | 0.0462 | 9 | c.-19 others(20): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 1954 | chr16 | TogoVar | ||||||
CEP295NL_chr17_78885579_78908201 | 78885669 | T | TGGGTGTG others(2): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 HG02074.hp1 HG02165.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0125others(1): Show | 5 | 430 | 0.0116 | 9 | c.*49 others(20): Show |
CEP295NL | ENSG00000178404.11 | transcript | ENST00000322630.3 | protein_coding | 4909 | chr17 | TogoVar | ||||||
CEP295_chr11_93656682_93735358 | 93712856 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01891.hp2 HG02109.hp2 others(2): Show |
a0005a0024a0027 | a0005c0006a0005c0011a0024c0028others(1): Show | a0005c0006t0001a0005c0011t0001a0024c0028t0001others(1): Show | a0005c0006t0001g0042a0005c0011t0001g0246a0005c0011t0001g0248others(2): Show | 5 | 354 | 0.0141 | 9 | c.574 others(28): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 18/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180096968 | A | ATGCTGGT others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(13): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0003 | a0001c0001t0001g0241a0004c0004t0003g0042a0004c0004t0003g0047others(13): Show | 16 | 248 | 0.0645 | 9 | c.906 others(26): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP44_chr4_174278911_174325328 | 174291782 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02056.hp2 HG02109.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0023a0002c0002t0004g0066a0002c0002t0004g0071others(7): Show | 11 | 388 | 0.0284 | 9 | c.-14 others(28): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CEP63_chr3_134481057_134570031 | 134557376 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG01069.hp1 others(9): Show |
a0001a0004a0007 | a0001c0003a0004c0007a0007c0009 | a0001c0003t0003a0001c0003t0008a0001c0003t0023others(3): Show | a0001c0003t0003g0155a0001c0003t0003g0170a0001c0003t0003g0184others(8): Show | 12 | 322 | 0.0373 | 9 | c.146 others(26): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP72_chr5_607340_658553 | 649722 | G | GAGGTGTG others(2): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02602.hp1 HG03834.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0070a0002c0002t0001g0072a0002c0002t0001g0079others(3): Show | 6 | 91 | 0.0659 | 9 | c.177 others(28): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 651078 | G | GAGGTGTG others(2): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02109.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(3): Show | 6 | 91 | 0.0659 | 9 | c.177 others(28): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | TogoVar | ||||||
CEP78_chr9_78231075_78284690 | 78249224 | T | TTTGTCGT others(2): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02257.hp2 HG02559.hp2 others(9): Show |
a0001a0005 | a0001c0004a0005c0012 | a0001c0004t0014a0001c0004t0023a0001c0004t0028others(5): Show | a0001c0004t0014g0023a0001c0004t0014g0030a0001c0004t0014g0115others(8): Show | 12 | 340 | 0.0353 | 9 | c.106 others(26): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CEP78_chr9_78231075_78284690 | 78249224 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(167): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0012a0001c0001t0013others(52): Show | a0001c0001t0003g0018a0001c0001t0003g0033a0001c0001t0003g0092others(142): Show | 170 | 340 | 0.5000 | 9 | c.106 others(26): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CEP83_chr12_94302698_94464867 | 94344541 | A | ACTATATT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01192.hp2 HG01361.hp2 others(4): Show |
a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0354a0003c0005t0005g0355a0003c0005t0005g0356others(4): Show | 7 | 364 | 0.0192 | 9 | c.134 others(28): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 11/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94423457 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00738.hp2 others(25): Show |
a0001a0008 | a0001c0001a0001c0003a0008c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(25): Show | 28 | 364 | 0.0769 | 9 | c.-10 others(30): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 2/16 | chr12 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02897.hp1 NA18979.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0003 | a0001c0001t0001g0060a0001c0001t0001g0069a0001c0001t0001g0128others(3): Show | 6 | 302 | 0.0199 | 9 | c.232 others(28): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118640342 | G | GTGGAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(206): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0012others(7): Show | a0001c0001t0004a0001c0001t0007a0002c0002t0002others(25): Show | a0001c0001t0004g0072a0001c0001t0004g0083a0001c0001t0004g0084others(206): Show | 209 | 302 | 0.6921 | 9 | c.74- others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26241244 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01516.hp1 HG02615.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0106a0001c0001t0003g0107a0002c0002t0001g0217others(3): Show | 6 | 342 | 0.0175 | 9 | c.55+ others(24): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP85_chr1_26229200_26283808 | 26248722 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02257.hp2 HG02809.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0003a0004c0004t0003a0004c0004t0008 | a0001c0001t0003g0097a0001c0001t0003g0113a0004c0004t0003g0292others(3): Show | 6 | 342 | 0.0175 | 9 | c.208 others(26): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP89_chr19_32870925_32976958 | 32944220 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(35): Show |
a0001a0004a0009others(1): Show | a0001c0004a0004c0006a0009c0023others(1): Show | a0001c0004t0001a0001c0004t0002a0004c0006t0007others(3): Show | a0001c0004t0001g0074a0001c0004t0001g0075a0001c0004t0001g0145others(35): Show | 38 | 386 | 0.0985 | 9 | c.595 others(26): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
CERCAM_chr9_128415857_128442347 | 128423078 | C | CTGTCCAC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(98): Show |
a0001a0011 | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0016a0001c0001t0001g0092a0001c0001t0002g0067others(56): Show | 101 | 400 | 0.2525 | 9 | c.309 others(22): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CERKL_chr2_181531672_181662105 | 181609533 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG01109.hp2 others(35): Show |
a0001a0011 | a0001c0001a0001c0002a0011c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0152a0001c0001t0001g0170a0001c0001t0001g0280others(35): Show | 38 | 298 | 0.1275 | 9 | c.239 others(26): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8214942 | G | GGGGAGGA others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00733.hp2 HG00741.hp1 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0019others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(7): Show | a0001c0001t0001g0407a0001c0001t0003g0011a0001c0001t0003g0012others(32): Show | 35 | 418 | 0.0837 | 9 | c.-2+ others(24): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CERS4_chr19_8204370_8267421 | 8254322 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(65): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0202a0001c0001t0002g0137a0001c0001t0002g0270others(65): Show | 68 | 418 | 0.1627 | 9 | c.174 others(24): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CERS4_chr19_8204370_8267421 | 8267294 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG02071.hp1 HG02155.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0408a0001c0001t0002g0258a0001c0001t0002g0339others(6): Show | 9 | 418 | 0.0215 | 9 | c.*51 others(20): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4874 | chr19 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50148921 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG02818.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0246a0001c0002t0002g0259a0001c0002t0002g0261 | 3 | 320 | 0.0094 | 9 | c.198 others(26): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168455505 | T | TATCATCA others(2): Show |
upstream_gene_variant | MODIFIER | HG02132.hp2 HG02145.hp1 HG02559.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0098a0001c0001t0001g0101a0001c0001t0003g0003others(15): Show | 18 | 176 | 0.1023 | 9 | c.-94 others(18): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 766 | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168665947 | G | GACTGTGT others(2): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18954.hp2 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0091a0001c0001t0002g0131 | 3 | 176 | 0.0171 | 9 | c.466 others(28): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | chr2 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75457970 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01891.hp2 HG02615.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014 | a0001c0001t0006g0134a0001c0001t0006g0234a0001c0001t0006g0235others(5): Show | 8 | 336 | 0.0238 | 9 | c.348 others(26): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 3/16 | chr5 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55809093 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01891.hp2 HG02809.hp1 others(2): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0043a0001c0001t0003g0083others(2): Show | 5 | 87 | 0.0575 | 9 | c.131 others(28): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55827277 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(28): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0026a0001c0001t0001g0027others(27): Show | 31 | 87 | 0.3563 | 9 | c.261 others(24): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | TogoVar | ||||||
CFAP206_chr6_87402972_87469465 | 87419080 | C | CTGGCATG others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00597.hp2 others(129): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(9): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(115): Show | 132 | 376 | 0.3511 | 9 | c.840 others(24): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CFAP210_chr2_169640425_169699405 | 169656387 | A | AGGATGAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00735.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016a0001c0001t0002g0017a0001c0001t0002g0018others(15): Show | 18 | 390 | 0.0462 | 9 | c.820 others(26): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 5/8 | chr2 | TogoVar | ||||||
CFAP221_chr2_119539449_119661661 | 119628292 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01516.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0165a0002c0002t0001g0220 | 2 | 226 | 0.0089 | 9 | c.165 others(26): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 16/23 | chr2 | TogoVar | ||||||
CFAP221_chr2_119539449_119661661 | 119628294 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG02027.hp2 NA19066.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0078a0003c0003t0002g0079 | 2 | 226 | 0.0089 | 9 | c.165 others(26): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 16/23 | chr2 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121979563 | C | CTTCTTTT others(2): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18978.hp1 NA18981.hp1 others(3): Show |
a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0058a0003c0009t0001g0059a0003c0009t0001g0060others(3): Show | 6 | 354 | 0.0170 | 9 | c.300 others(28): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121979563 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(121): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0021a0002c0004others(10): Show | a0001c0001t0001a0001c0021t0001a0002c0004t0001others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0111a0001c0001t0001g0112others(120): Show | 124 | 354 | 0.3503 | 9 | c.300 others(28): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |