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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP20_chr16_15860719_15893603 | 15882774 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG00423.hp1 NA19091.hp2 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0033 | 2 | 433 | 0.0046 | 16 | c.226 others(33): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
CEP20_chr16_15860719_15893603 | 15882778 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18981.hp1 NA19004.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0020 a0002c0002t0004g0095 |
4 | 433 | 0.0092 | 16 | c.226 others(33): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
CEP20_chr16_15860719_15893603 | 15890556 | C | CAAAAAAA others(9): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0216 | 1 | 433 | 0.0023 | 16 | c.-19 others(27): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 1954 | chr16 | TogoVar | |||||||
CEP290_chr12_88044016_88147088 | 88086704 | T | TATCCATC others(9): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00639.hp1 others(79): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0008a0002c0002others(6): Show | a0001c0001t0001a0001c0008t0001a0002c0002t0001others(7): Show | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0022 others(73): Show |
82 | 234 | 0.3504 | 16 | c.419 others(33): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | TogoVar | |||||||
CEP290_chr12_88044016_88147088 | 88086712 | C | CATCCATC others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 234 | 0.0043 | 16 | c.419 others(33): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | TogoVar | |||||||
CEP295NL_chr17_78885579_78908201 | 78893405 | G | GTGTGCGC others(9): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00438.hp2 others(141): Show |
a0001a0002a0005others(10): Show | a0001c0001a0001c0018a0002c0002others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(21): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 others(86): Show |
144 | 430 | 0.3349 | 16 | c.45- others(29): Show |
CEP295NL | ENSG00000178404.11 | transcript | ENST00000322630.3 | protein_coding | 2/2 | chr17 | TogoVar | |||||||
CEP295NL_chr17_78885579_78908201 | 78893405 | G | GTGTGTGC others(9): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0015 | a0015c0025 | a0015c0025t0001 | a0015c0025t0001g0155 | 1 | 430 | 0.0023 | 16 | c.45- others(29): Show |
CEP295NL | ENSG00000178404.11 | transcript | ENST00000322630.3 | protein_coding | 2/2 | chr17 | TogoVar | |||||||
CEP350_chr1_179949810_180119875 | 179959904 | T | TCTTAAAT others(9): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
a0002a0006a0013 | a0002c0002a0006c0008a0006c0032others(1): Show | a0002c0002t0004a0002c0002t0015a0002c0002t0020others(4): Show | a0002c0002t0004g0020 a0002c0002t0004g0021 a0002c0002t0004g0022 others(21): Show |
24 | 248 | 0.0968 | 16 | c.-14 others(33): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180004902 | G | GCTTTCTT others(9): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0134 | 1 | 248 | 0.0040 | 16 | c.113 others(35): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180004906 | G | GCTTGCTT others(9): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02976.hp2 |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0127 a0005c0005t0002g0139 |
2 | 248 | 0.0081 | 16 | c.113 others(35): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180004906 | G | GCTTGCTT others(9): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0137 | 1 | 248 | 0.0040 | 16 | c.113 others(35): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180004906 | G | GCTTGCTT others(9): Show |
intron_variant | MODIFIER | HG03098.hp1 NA20905.hp1 |
a0002a0005 | a0002c0007a0005c0005 | a0002c0007t0002a0005c0005t0002 | a0002c0007t0002g0242 a0005c0005t0002g0143 |
2 | 248 | 0.0081 | 16 | c.113 others(35): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180004906 | G | GCTTTCTT others(9): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02486.hp2 HG02615.hp2 others(5): Show |
a0002a0004 | a0002c0002a0002c0016a0004c0004 | a0002c0002t0002a0002c0002t0007a0002c0016t0003others(1): Show | a0002c0002t0002g0245 a0002c0002t0007g0069 a0002c0016t0003g0046 others(5): Show |
8 | 248 | 0.0323 | 16 | c.113 others(35): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130392347 | G | GACACACA others(9): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0074 | 1 | 346 | 0.0029 | 16 | c.*65 others(27): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1423 | chr7 | TogoVar | |||||||
CEP41_chr7_130388771_130446016 | 130410029 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0048 | a0001c0001t0037g0300 a0001c0001t0037g0301 a0001c0001t0048g0027 |
3 | 346 | 0.0087 | 16 | c.277 others(33): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
CEP43_chr6_166994397_167057718 | 167042814 | T | TTGTGTGT others(9): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00609.hp1 others(42): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0030a0001c0001t0032others(29): Show | a0001c0001t0006g0223 a0001c0001t0006g0238 a0001c0001t0006g0257 others(41): Show |
45 | 376 | 0.1197 | 16 | c.*28 others(27): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 13/13 | 2862 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109177637 | A | AATATATA others(9): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG02486.hp1 HG06807.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0001t0021a0001c0003t0005others(1): Show | a0001c0001t0001g0107 a0001c0001t0021g0216 a0001c0003t0005g0201 others(1): Show |
4 | 228 | 0.0175 | 16 | c.*14 others(29): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 3220 | chr6 | TogoVar | |||||||
CEP57L1_chr6_109090507_109179418 | 109177675 | T | TATATATA others(9): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01257.hp1 others(3): Show |
a0002a0006 | a0002c0002a0006c0008 | a0002c0002t0003a0002c0002t0071a0006c0008t0077 | a0002c0002t0003g0013 a0002c0002t0003g0015 a0002c0002t0003g0027 others(3): Show |
6 | 228 | 0.0263 | 16 | c.*14 others(29): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 3258 | chr6 | TogoVar | |||||||
CEP63_chr3_134481057_134570031 | 134528569 | C | CGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG03704.hp1 NA18940.hp2 NA18951.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0123 others(3): Show |
6 | 322 | 0.0186 | 16 | c.223 others(33): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134547614 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00733.hp1 others(51): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0015others(11): Show | a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 others(50): Show |
54 | 322 | 0.1677 | 16 | c.106 others(33): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12669933 | G | GTTGCGGT others(9): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(246): Show |
a0001a0003a0007 | a0001c0001a0003c0008a0007c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0017 others(186): Show |
249 | 380 | 0.6553 | 16 | c.*34 others(27): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 2691 | chr18 | TogoVar | |||||||
CEP76_chr18_12667625_12707723 | 12683186 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 380 | 0.0026 | 16 | c.112 others(35): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 8/11 | chr18 | TogoVar | |||||||
CEP78_chr9_78231075_78284690 | 78236969 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0004 | a0001c0004t0062 | a0001c0004t0062g0222 | 1 | 340 | 0.0029 | 16 | c.253 others(31): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94343470 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0104 | 1 | 364 | 0.0028 | 16 | c.134 others(35): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 11/16 | chr12 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94347050 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 364 | 0.0028 | 16 | c.134 others(37): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 11/16 | chr12 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94376690 | T | TATACACA others(9): Show |
intron_variant | MODIFIER | HG03195.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 a0001c0001t0001g0232 |
2 | 364 | 0.0055 | 16 | c.802 others(31): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 7/16 | chr12 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118519432 | C | CTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 302 | 0.0033 | 16 | c.113 others(35): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118519474 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0187 | 1 | 302 | 0.0033 | 16 | c.113 others(35): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118542900 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01071.hp2 NA20905.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0237 a0002c0002t0002g0238 |
2 | 302 | 0.0066 | 16 | c.102 others(37): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600294 | C | CTGGGGGG others(9): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02922.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0031 | a0002c0002t0002g0225 a0002c0002t0031g0302 |
2 | 302 | 0.0066 | 16 | c.232 others(35): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGG others(9): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0005 | 1 | 302 | 0.0033 | 16 | c.232 others(35): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118614849 | T | TAGACAGA others(9): Show |
intron_variant | MODIFIER | HG04204.hp2 NA18522.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0235 a0002c0002t0002g0239 |
2 | 302 | 0.0066 | 16 | c.232 others(35): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118651679 | C | CGCGCGGG others(9): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0094 | 1 | 302 | 0.0033 | 16 | c.-42 others(25): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 89 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118651683 | C | CGGGGCGG others(9): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 NA18941.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0089 a0001c0001t0004g0098 |
2 | 302 | 0.0066 | 16 | c.-43 others(25): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 93 | chr6 | TogoVar | |||||||
CEP85_chr1_26229200_26283808 | 26231666 | C | CTGTGTGT others(9): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 HG02486.hp2 HG02622.hp2 others(5): Show |
a0003 | a0003c0003a0003c0005a0003c0007others(1): Show | a0003c0003t0004a0003c0005t0004a0003c0007t0004others(1): Show | a0003c0003t0004g0305 a0003c0003t0004g0307 a0003c0003t0004g0325 others(5): Show |
8 | 342 | 0.0234 | 16 | c.-26 others(27): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 2533 | chr1 | TogoVar | |||||||
CEP85_chr1_26229200_26283808 | 26248722 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0118 a0001c0001t0003g0147 |
2 | 342 | 0.0059 | 16 | c.208 others(33): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26256928 | G | GGGGTGTG others(9): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02486.hp2 HG03195.hp1 |
a0001a0003 | a0001c0001a0003c0005a0003c0007 | a0001c0001t0012a0003c0005t0004a0003c0007t0004 | a0001c0001t0012g0168 a0003c0005t0004g0297 a0003c0007t0004g0321 |
3 | 342 | 0.0088 | 16 | c.904 others(31): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26256928 | G | GGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG01069.hp2 others(33): Show |
a0001a0003a0007others(2): Show | a0001c0001a0001c0009a0003c0003others(3): Show | a0001c0001t0003a0001c0009t0003a0003c0003t0004others(3): Show | a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 others(33): Show |
36 | 342 | 0.1053 | 16 | c.904 others(31): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26273900 | C | CTAAATAA others(9): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0225 | 1 | 342 | 0.0029 | 16 | c.179 others(35): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 11/13 | chr1 | TogoVar | |||||||
CEP85_chr1_26229200_26283808 | 26273901 | A | AAAATAAA others(9): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0155 | 1 | 342 | 0.0029 | 16 | c.179 others(35): 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(9): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00621.hp2 others(12): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0017a0001c0004t0001 | a0001c0002t0001g0017 a0001c0002t0001g0033 a0001c0002t0001g0035 others(12): Show |
15 | 386 | 0.0389 | 16 | c.156 others(33): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32902008 | C | CTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03098.hp2 HG03471.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 |
3 | 386 | 0.0078 | 16 | c.156 others(33): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32902010 | C | CTCTGTGT others(9): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0153 | 1 | 386 | 0.0026 | 16 | c.156 others(33): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32944220 | T | TAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02559.hp1 HG02809.hp2 others(1): Show |
a0001a0002a0008 | a0001c0002a0002c0001a0008c0011 | a0001c0002t0010a0002c0001t0002a0002c0001t0028others(1): Show | a0001c0002t0010g0149 a0002c0001t0002g0309 a0002c0001t0028g0148 others(1): Show |
4 | 386 | 0.0104 | 16 | c.595 others(33): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
CEP95_chr17_64501977_64542946 | 64540759 | G | GTATATAT others(9): Show |
downstream_gene_variant | MODIFIER | NA18973.hp2 NA18977.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0103 a0001c0009t0001g0025 |
2 | 248 | 0.0081 | 16 | c.*29 others(27): Show |
CEP95 | ENSG00000258890.8 | transcript | ENST00000556440.7 | protein_coding | 2814 | chr17 | TogoVar | |||||||
CEPT1_chr1_111135223_111190104 | 111149266 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0269 a0001c0001t0006g0292 a0001c0001t0006g0293 |
3 | 410 | 0.0073 | 16 | c.339 others(33): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CER1_chr9_14714724_14727733 | 14719561 | G | GCCTGCCT others(9): Show |
downstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 460 | 0.0022 | 16 | c.*52 others(25): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 162 | chr9 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181536543 | C | CTTTACAA others(9): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(168): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0010others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(24): Show | a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 others(168): Show |
171 | 298 | 0.5738 | 16 | c.*16 others(27): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 128 | chr2 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181536688 | A | AATATTTT others(9): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG01109.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0261 a0001c0001t0015g0270 |
2 | 298 | 0.0067 | 16 | c.*14 others(27): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 13/13 | 1495 | chr2 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181547906 | G | GACACACA others(9): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG01258.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0004others(3): Show | a0001c0001t0001g0209 a0001c0002t0001g0015 a0001c0002t0001g0050 others(18): Show |
21 | 298 | 0.0705 | 16 | c.113 others(31): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 8/12 | chr2 | TogoVar |