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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP72_chr5_607340_658553 | 650412 | G | GGTGTGGA others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01433.hp1 HG02602.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(4): Show | 7 | 91 | 0.0769 | 8 | c.177 others(27): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12695852 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01516.hp2 others(10): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0001c0001t0002a0006c0006t0001 | a0001c0001t0001g0048a0001c0001t0001g0084a0001c0001t0001g0085others(8): Show | 13 | 380 | 0.0342 | 8 | c.707 others(23): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 5/11 | chr18 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12705570 | A | AGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01261.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0002a0001c0001t0002g0006a0001c0001t0002g0013others(10): Show | 21 | 380 | 0.0553 | 8 | c.-30 others(19): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 2848 | chr18 | TogoVar | ||||||
CEP78_chr9_78231075_78284690 | 78236969 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02083.hp1 HG02258.hp2 others(3): Show |
a0001 | a0001c0003a0001c0004a0001c0007 | a0001c0003t0004a0001c0003t0009a0001c0004t0023others(1): Show | a0001c0003t0004g0214a0001c0003t0009g0215a0001c0003t0009g0217others(3): Show | 6 | 340 | 0.0177 | 8 | c.253 others(23): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CEP83_chr12_94302698_94464867 | 94347050 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG01069.hp1 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0033a0001c0001t0001g0045a0001c0001t0001g0067others(65): Show | 68 | 364 | 0.1868 | 8 | c.134 others(29): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 11/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94347068 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01192.hp2 HG01361.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0005 | a0001c0001t0001g0027a0001c0001t0001g0225a0001c0001t0001g0226others(8): Show | 11 | 364 | 0.0302 | 8 | c.134 others(29): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 11/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94365460 | G | GATTGCAT others(1): Show |
intron_variant | MODIFIER | HG02056.hp2 NA18962.hp1 NA19072.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0029a0001c0001t0007g0030a0001c0001t0007g0031others(1): Show | 4 | 364 | 0.0110 | 8 | c.134 others(27): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 11/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94376690 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01099.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0131others(27): Show | 30 | 364 | 0.0824 | 8 | c.802 others(23): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 7/16 | chr12 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94423457 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00639.hp1 others(32): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(32): Show | 35 | 364 | 0.0962 | 8 | c.-10 others(29): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 2/16 | chr12 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118491196 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01934.hp2 HG02273.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0072a0001c0001t0004g0083a0001c0001t0004g0085others(4): Show | 7 | 302 | 0.0232 | 8 | c.143 others(25): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 6/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118519432 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01952.hp1 others(15): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0007 | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(1): Show | a0001c0001t0001g0061a0001c0001t0001g0118a0001c0001t0001g0127others(15): Show | 18 | 302 | 0.0596 | 8 | c.113 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118519474 | G | GTGTGTGG others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 NA18968.hp2 NA18992.hp2 others(3): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0002c0002t0002a0006c0006t0009 | a0001c0001t0001g0145a0002c0002t0002g0194a0002c0002t0002g0211others(3): Show | 6 | 302 | 0.0199 | 8 | c.113 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118519539 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01975.hp2 HG01978.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0009a0003c0003t0003g0010a0003c0003t0003g0013 | 3 | 302 | 0.0099 | 8 | c.113 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118558626 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG01109.hp1 others(12): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005a0002c0002t0026others(1): Show | a0002c0002t0002g0188a0002c0002t0002g0195a0002c0002t0002g0197others(12): Show | 15 | 302 | 0.0497 | 8 | c.102 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600370 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02976.hp2 HG03942.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005 | a0002c0002t0002g0184a0002c0002t0002g0242a0002c0002t0005g0266others(1): Show | 4 | 302 | 0.0133 | 8 | c.232 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118604922 | G | GGCATTAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp2 others(98): Show |
a0002a0003 | a0002c0002a0002c0012a0003c0003 | a0002c0002t0002a0002c0002t0005a0002c0002t0014others(10): Show | a0002c0002t0002g0173a0002c0002t0002g0174a0002c0002t0002g0175others(98): Show | 101 | 302 | 0.3344 | 8 | c.232 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118613757 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02027.hp1 HG02280.hp2 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0018a0002c0002t0002others(4): Show | a0001c0001t0001g0166a0001c0001t0001g0169a0001c0001t0018g0150others(9): Show | 12 | 302 | 0.0397 | 8 | c.232 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118614849 | T | TAGACAGA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp2 others(37): Show |
a0002a0003 | a0002c0002a0002c0012a0003c0003 | a0002c0002t0002a0002c0002t0005a0002c0002t0024others(3): Show | a0002c0002t0002g0174a0002c0002t0002g0175a0002c0002t0002g0179others(37): Show | 40 | 302 | 0.1325 | 8 | c.232 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118614865 | C | CAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01516.hp1 HG01517.hp2 others(5): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0003c0003t0003a0004c0004t0006others(1): Show | a0001c0001t0001g0114a0001c0001t0001g0115a0001c0001t0001g0134others(5): Show | 8 | 302 | 0.0265 | 8 | c.232 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26238202 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(8): Show | a0001c0001t0001g0207a0001c0001t0001g0208a0001c0001t0001g0209others(30): Show | 33 | 342 | 0.0965 | 8 | c.-22 others(25): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP85_chr1_26229200_26283808 | 26248722 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02615.hp1 HG02622.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0004a0004c0010 | a0001c0001t0001a0001c0001t0003a0004c0004t0003others(1): Show | a0001c0001t0001g0284a0001c0001t0001g0285a0001c0001t0003g0117others(4): Show | 7 | 342 | 0.0205 | 8 | c.208 others(25): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP85_chr1_26229200_26283808 | 26273900 | C | CTAAATAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00621.hp2 others(42): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0002c0002t0001a0002c0002t0007others(2): Show | a0001c0001t0001g0180a0001c0001t0001g0181a0001c0001t0001g0182others(41): Show | 45 | 342 | 0.1316 | 8 | c.179 others(27): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 11/13 | chr1 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26273901 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00639.hp2 others(54): Show |
a0001a0006a0008 | a0001c0001a0001c0009a0006c0018others(1): Show | a0001c0001t0003a0001c0009t0003a0006c0018t0003others(1): Show | a0001c0001t0003g0003a0001c0001t0003g0099a0001c0001t0003g0100others(52): Show | 57 | 342 | 0.1667 | 8 | c.179 others(27): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP89_chr19_32870925_32976958 | 32902004 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG04115.hp2 NA18982.hp2 others(4): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0028a0001c0004t0001 | a0001c0002t0001g0036a0001c0002t0001g0063a0001c0002t0028g0054others(4): Show | 7 | 386 | 0.0181 | 8 | c.156 others(25): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32902010 | C | CTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01361.hp1 HG01516.hp1 others(14): Show |
a0004a0009 | a0004c0006a0009c0023 | a0004c0006t0007a0004c0006t0009a0004c0006t0032others(1): Show | a0004c0006t0007g0086a0004c0006t0007g0128a0004c0006t0007g0129others(14): Show | 17 | 386 | 0.0440 | 8 | c.156 others(25): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32902010 | C | CTCTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01496.hp1 HG02055.hp2 others(9): Show |
a0002a0003a0005others(1): Show | a0002c0001a0003c0003a0005c0008others(1): Show | a0002c0001t0002a0002c0001t0008a0003c0003t0010others(2): Show | a0002c0001t0002g0073a0002c0001t0002g0155a0002c0001t0002g0158others(9): Show | 12 | 386 | 0.0311 | 8 | c.156 others(25): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32927113 | C | CACCCACC others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01106.hp1 HG01361.hp1 others(32): Show |
a0003a0004a0005others(1): Show | a0003c0010a0004c0006a0005c0008others(1): Show | a0003c0010t0014a0004c0006t0007a0004c0006t0009others(4): Show | a0003c0010t0014g0168a0003c0010t0014g0366a0004c0006t0007g0086others(32): Show | 35 | 386 | 0.0907 | 8 | c.103 others(25): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 9/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32944220 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01106.hp1 HG01361.hp1 others(18): Show |
a0001a0003a0004 | a0001c0004a0003c0010a0004c0006 | a0001c0004t0001a0003c0010t0014a0004c0006t0007others(5): Show | a0001c0004t0001g0186a0003c0010t0014g0168a0003c0010t0014g0366others(18): Show | 21 | 386 | 0.0544 | 8 | c.595 others(25): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32951532 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01978.hp1 NA18954.hp1 NA19054.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0074a0001c0004t0001g0171a0001c0004t0001g0199 | 3 | 386 | 0.0078 | 8 | c.492 others(25): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 4/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32951534 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01106.hp2 HG01243.hp2 others(10): Show |
a0000a0001a0005 | a0000c0005a0001c0004a0005c0008 | a0000c0005t0005a0000c0005t0020a0001c0004t0001others(1): Show | a0000c0005t0005g0101a0000c0005t0005g0103a0000c0005t0005g0104others(10): Show | 13 | 386 | 0.0337 | 8 | c.492 others(25): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 4/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32951534 | T | TATATACA others(1): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02129.hp1 NA18949.hp1 others(3): Show |
a0004a0012 | a0004c0006a0012c0017 | a0004c0006t0007a0004c0006t0032a0012c0017t0003 | a0004c0006t0007g0086a0004c0006t0007g0131a0004c0006t0007g0133others(3): Show | 6 | 386 | 0.0155 | 8 | c.492 others(25): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 4/18 | chr19 | TogoVar | ||||||
CEP95_chr17_64501977_64542946 | 64538581 | A | AAGATAGA others(1): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG02109.hp2 HG02486.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012a0001c0001t0002g0018a0001c0001t0002g0032others(7): Show | 12 | 248 | 0.0484 | 8 | c.*80 others(17): Show |
CEP95 | ENSG00000258890.8 | transcript | ENST00000556440.7 | protein_coding | 636 | chr17 | TogoVar | ||||||
CEP95_chr17_64501977_64542946 | 64540759 | G | GTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG01106.hp2 HG02451.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0083others(3): Show | 7 | 248 | 0.0282 | 8 | c.*29 others(19): Show |
CEP95 | ENSG00000258890.8 | transcript | ENST00000556440.7 | protein_coding | 2814 | chr17 | TogoVar | ||||||
CER1_chr9_14714724_14727733 | 14719557 | G | GCCTTCCT others(1): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 460 | 0.0109 | 8 | c.*53 others(17): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 166 | chr9 | TogoVar | ||||||
CER1_chr9_14714724_14727733 | 14723164 | T | TCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG02273.hp2 HG02922.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0001a0002c0002t0001g0019a0003c0003t0001g0039 | 6 | 460 | 0.0130 | 8 | c.-49 others(17): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 432 | chr9 | TogoVar | ||||||
CERCAM_chr9_128415857_128442347 | 128437361 | G | GTATGTAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 HG02080.hp1 HG02135.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020a0001c0002t0001g0034a0001c0002t0001g0043others(4): Show | 8 | 400 | 0.0200 | 8 | c.*51 others(17): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 15 | chr9 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181572780 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02055.hp1 HG02486.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(2): Show | a0001c0001t0001g0150a0001c0002t0001g0063a0001c0002t0005g0090others(4): Show | 7 | 298 | 0.0235 | 8 | c.613 others(23): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 3/12 | chr2 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181609533 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00609.hp1 others(51): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0205a0001c0001t0001g0206a0001c0001t0001g0236others(51): Show | 54 | 298 | 0.1812 | 8 | c.239 others(25): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181650079 | A | AAGGGAGG others(1): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01358.hp2 HG02647.hp1 others(3): Show |
a0001a0006 | a0001c0002a0006c0012 | a0001c0002t0002a0001c0002t0003a0001c0002t0025others(1): Show | a0001c0002t0002g0018a0001c0002t0003g0002a0001c0002t0003g0020others(2): Show | 6 | 298 | 0.0201 | 8 | c.238 others(25): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181650103 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | NA18964.hp2 NA18983.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0278a0001c0001t0002g0276a0001c0001t0002g0277 | 3 | 298 | 0.0101 | 8 | c.238 others(25): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181650111 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | NA18970.hp1 NA18970.hp2 NA19030.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0003a0002c0004t0003 | a0001c0001t0002g0255a0001c0001t0003g0256a0002c0004t0003g0293 | 3 | 298 | 0.0101 | 8 | c.238 others(25): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46680615 | C | CATCCACC others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG02055.hp1 HG02145.hp2 others(3): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0040a0001c0001t0056a0001c0002t0031others(3): Show | a0001c0001t0040g0040a0001c0001t0056g0269a0001c0002t0031g0279others(3): Show | 6 | 340 | 0.0177 | 8 | c.*65 others(19): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 3794 | chr22 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46680631 | C | CATCCATC others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG02055.hp1 HG02145.hp2 others(3): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0040a0001c0001t0056a0001c0002t0031others(3): Show | a0001c0001t0040g0040a0001c0001t0056g0269a0001c0002t0031g0279others(3): Show | 6 | 340 | 0.0177 | 8 | c.*65 others(19): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 3778 | chr22 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46680805 | C | CCCATCCA others(1): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG01433.hp2 others(7): Show |
a0001a0012 | a0001c0001a0001c0003a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0018others(5): Show | a0001c0001t0001g0079a0001c0001t0014g0199a0001c0001t0014g0291others(6): Show | 10 | 340 | 0.0294 | 8 | c.*63 others(19): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 3604 | chr22 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46691056 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02572.hp1 HG02723.hp1 others(8): Show |
a0001a0011 | a0001c0001a0001c0003a0001c0009others(4): Show | a0001c0001t0008a0001c0003t0011a0001c0003t0030others(6): Show | a0001c0001t0008g0043a0001c0003t0011g0205a0001c0003t0030g0185others(8): Show | 11 | 340 | 0.0324 | 8 | c.133 others(25): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 11/12 | chr22 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46702223 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 NA19056.hp1 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0224a0001c0001t0004g0019a0001c0001t0004g0092 | 3 | 340 | 0.0088 | 8 | c.716 others(23): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 6/12 | chr22 | TogoVar | ||||||
CERK_chr22_46679410_46743252 | 46719148 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01943.hp1 HG02083.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0018others(1): Show | a0001c0001t0056a0001c0003t0002a0001c0003t0006others(4): Show | a0001c0001t0056g0269a0001c0003t0002g0172a0001c0003t0006g0264others(4): Show | 7 | 340 | 0.0206 | 8 | c.379 others(23): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 3/12 | chr22 | TogoVar | ||||||
CERS1_chr19_18863545_18901158 | 18876536 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01167.hp2 HG01169.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0043a0001c0001t0001g0152a0001c0002t0001g0305others(16): Show | 21 | 380 | 0.0553 | 8 | c.101 others(27): Show |
CERS1 | ENSG00000223802.9 | transcript | ENST00000623882.4 | protein_coding | 6/7 | chr19 | TogoVar | ||||||
CERS1_chr19_18863545_18901158 | 18881767 | C | CTCTGCTC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(164): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015others(143): Show | 167 | 380 | 0.4395 | 8 | c.591 others(25): Show |
CERS1 | ENSG00000223802.9 | transcript | ENST00000623882.4 | protein_coding | 3/7 | chr19 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100454387 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG01074.hp1 others(43): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(43): Show | 46 | 362 | 0.1271 | 8 | c.999 others(25): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar |