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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CENPA_chr2_26781056_26799589 | 26784448 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(1): Show |
9 | 118 | 0.0763 | 15 | c.-17 others(26): Show |
CENPA | ENSG00000115163.15 | transcript | ENST00000335756.9 | protein_coding | 1607 | chr2 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103116277 | C | CACACACA others(8): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0045 | 1 | 318 | 0.0031 | 15 | c.744 others(32): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 45/48 | chr4 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103132960 | T | TTATATAT others(8): Show |
intron_variant | MODIFIER | HG02717.hp2 NA18522.hp1 |
a0004a0015 | a0004c0012a0015c0016 | a0004c0012t0001a0015c0016t0001 | a0004c0012t0001g0093 a0015c0016t0001g0094 |
2 | 136 | 0.0147 | 15 | c.672 others(30): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 41/48 | chr4 | TogoVar | |||||||
CENPH_chr5_69184583_69215357 | 69200719 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00741.hp1 HG02129.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0036 a0001c0001t0001g0150 others(5): Show |
14 | 36 | 0.3889 | 15 | c.372 others(32): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CENPL_chr1_173794550_173829883 | 173825448 | C | CTATTATT others(8): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0052 | 1 | 351 | 0.0028 | 15 | c.-13 others(26): Show |
CENPL | ENSG00000120334.16 | transcript | ENST00000682279.1 | protein_coding | 566 | chr1 | TogoVar | |||||||
CENPL_chr1_173794550_173829883 | 173825449 | C | CATTATTA others(8): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00621.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 others(14): Show |
30 | 62 | 0.4839 | 15 | c.-13 others(26): Show |
CENPL | ENSG00000120334.16 | transcript | ENST00000682279.1 | protein_coding | 567 | chr1 | TogoVar | |||||||
CENPO_chr2_24788425_24827376 | 24817466 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0043 | a0002c0002t0043g0084 | 1 | 55 | 0.0182 | 15 | c.767 others(30): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92361440 | C | CTTATTTT others(8): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 a0001c0001t0001g0256 |
2 | 27 | 0.0741 | 15 | c.467 others(34): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92532015 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0017 | 1 | 139 | 0.0072 | 15 | c.565 others(34): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92533328 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 97 | 0.0103 | 15 | c.565 others(34): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92533328 | A | AAAAATAT others(8): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 97 | 0.0103 | 15 | c.565 others(34): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92582030 | G | GTGTTTTG others(8): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02895.hp1 HG02976.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0015a0001c0001t0020a0002c0002t0012 | a0001c0001t0015g0040 a0001c0001t0020g0232 a0002c0002t0012g0203 |
3 | 204 | 0.0147 | 15 | c.565 others(34): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPQ_chr6_49458370_49498107 | 49487454 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00558.hp1 others(51): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0001c0001t0004a0003c0003t0002others(2): Show | a0001c0001t0001g0069 a0001c0001t0001g0114 a0001c0001t0001g0116 others(31): Show |
54 | 174 | 0.3103 | 15 | c.478 others(30): Show |
CENPQ | ENSG00000031691.7 | transcript | ENST00000335783.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CENPT_chr16_67823157_67852693 | 67842923 | G | GCAGCAGC others(8): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0056 |
2 | 264 | 0.0076 | 15 | c.-49 others(34): Show |
CENPT | ENSG00000102901.13 | transcript | ENST00000562787.6 | protein_coding | 1/15 | chr16 | TogoVar | |||||||
CENPX_chr17_82013703_82027878 | 82026564 | T | TGTGTGTG others(8): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 150 | 0.0067 | 15 | c.-37 others(26): Show |
CENPX | ENSG00000169689.15 | transcript | ENST00000392359.8 | protein_coding | 3687 | chr17 | TogoVar | |||||||
CEP104_chr1_3807086_3862211 | 3844697 | T | TTAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0130 | 1 | 380 | 0.0026 | 15 | c.566 others(30): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 6/21 | chr1 | TogoVar | |||||||
CEP104_chr1_3807086_3862211 | 3844698 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00735.hp2 others(31): Show |
a0001a0007a0017 | a0001c0001a0001c0006a0007c0020others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(6): Show | a0001c0001t0003g0278 a0001c0001t0003g0307 a0001c0001t0003g0308 others(27): Show |
34 | 287 | 0.1185 | 15 | c.566 others(30): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 6/21 | chr1 | TogoVar | |||||||
CEP104_chr1_3807086_3862211 | 3844707 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01884.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0002c0002t0001others(2): Show | a0001c0001t0003g0255 a0001c0001t0005g0292 a0002c0002t0001g0038 others(9): Show |
12 | 237 | 0.0506 | 15 | c.566 others(30): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 6/21 | chr1 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65926713 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG01346.hp2 HG03579.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0007 | a0001c0003t0001g0006 a0001c0003t0007g0004 |
2 | 92 | 0.0217 | 15 | c.198 others(32): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 19/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65950699 | C | CTATTATT others(8): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03225.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 a0001c0002t0001g0035 |
2 | 38 | 0.0526 | 15 | c.187 others(36): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 18/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65950699 | C | CTATTATT others(8): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104 | 1 | 37 | 0.0270 | 15 | c.187 others(36): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 18/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66195025 | A | AAAAATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035 | 1 | 71 | 0.0141 | 15 | c.-30 others(26): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 2893 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66195025 | A | AAATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 HG02683.hp2 HG03225.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0034 a0001c0002t0001g0086 a0002c0001t0001g0036 |
3 | 73 | 0.0411 | 15 | c.-30 others(26): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 2893 | chr17 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101938159 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02698.hp1 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0033 | a0001c0001t0002g0136 a0001c0001t0033g0175 a0001c0001t0033g0237 |
3 | 151 | 0.0199 | 15 | c.249 others(32): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80596819 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 14 | 0.0714 | 15 | c.280 others(36): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80617219 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 | 1 | 9 | 0.1111 | 15 | c.280 others(36): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80729058 | G | GTGTGTGT others(8): Show |
intron_variant | MODIFIER | NA18979.hp2 NA20129.hp1 |
a0001a0012 | a0001c0001a0012c0016 | a0001c0001t0006a0012c0016t0006 | a0001c0001t0006g0114 a0012c0016t0006g0105 |
2 | 47 | 0.0426 | 15 | c.280 others(36): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80810323 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02523.hp2 NA19012.hp1 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0005a0005c0005t0011 | a0001c0001t0001g0045 a0001c0001t0005g0034 a0005c0005t0011g0044 |
3 | 50 | 0.0600 | 15 | c.121 others(36): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81210122 | G | GAAGTGGC others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02109.hp1 others(23): Show |
a0001a0003a0010others(7): Show | a0001c0054a0003c0008a0003c0020others(8): Show | a0001c0054t0001a0003c0008t0003a0003c0020t0003others(8): Show | a0001c0054t0001g0263 a0003c0008t0003g0306 a0003c0008t0003g0307 others(22): Show |
26 | 382 | 0.0681 | 15 | c.178 others(32): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 2/25 | chr17 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84159548 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 | 1 | 177 | 0.0056 | 15 | c.278 others(34): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | |||||||
CEP170B_chr14_104860268_104901747 | 104860397 | A | ATCACCAC others(8): Show |
upstream_gene_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0061 | 1 | 325 | 0.0031 | 15 | c.-51 others(26): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 4870 | chr14 | TogoVar | |||||||
CEP192_chr18_12986362_13130036 | 13106509 | T | TACCACCA others(8): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02723.hp2 others(3): Show |
a0011a0027 | a0011c0011a0027c0045 | a0011c0011t0001a0027c0045t0001 | a0011c0011t0001g0282 a0011c0011t0001g0283 a0011c0011t0001g0334 others(3): Show |
6 | 385 | 0.0156 | 15 | c.704 others(34): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 40/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CEP20_chr16_15860719_15893603 | 15890556 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0017 a0001c0001t0005g0062 |
2 | 156 | 0.0128 | 15 | c.-19 others(26): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 1954 | chr16 | TogoVar | |||||||
CEP250_chr20_35450598_35524280 | 35451048 | A | AAATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01516.hp2 HG01517.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0036others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0148 others(11): Show |
15 | 257 | 0.0584 | 15 | c.-50 others(26): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 4549 | chr20 | TogoVar | |||||||
CEP250_chr20_35450598_35524280 | 35451050 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 205 | 0.0049 | 15 | c.-49 others(26): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 4547 | chr20 | TogoVar | |||||||
CEP41_chr7_130388771_130446016 | 130410024 | G | GTCTTCTT others(8): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0201 | 1 | 344 | 0.0029 | 15 | c.277 others(32): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
CEP41_chr7_130388771_130446016 | 130410026 | C | CTTCTTTT others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(176): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(47): Show | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0010 others(157): Show |
179 | 335 | 0.5343 | 15 | c.277 others(32): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
CEP55_chr10_93491612_93534092 | 93509468 | C | CATTATTA others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG02683.hp1 others(3): Show |
a0001a0009 | a0001c0001a0009c0010 | a0001c0001t0001a0009c0010t0002 | a0001c0001t0001g0203 a0009c0010t0002g0042 a0009c0010t0002g0197 others(2): Show |
6 | 17 | 0.3529 | 15 | c.528 others(32): Show |
CEP55 | ENSG00000138180.16 | transcript | ENST00000371485.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109136700 | T | TTTTTATT others(8): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02818.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0051 | a0001c0001t0001g0146 a0001c0001t0010g0138 a0001c0001t0051g0141 |
3 | 150 | 0.0200 | 15 | c.-3- others(30): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109142632 | A | AAAGAAGA others(8): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03225.hp1 HG03540.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0025a0001c0001t0026 | a0001c0001t0011g0218 a0001c0001t0011g0219 a0001c0001t0011g0220 others(2): Show |
5 | 226 | 0.0221 | 15 | c.-3- others(30): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134490647 | T | TCCCATAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(202): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(24): Show | a0001c0001t0001g0008 a0001c0001t0001g0129 a0001c0001t0001g0130 others(197): Show |
205 | 320 | 0.6406 | 15 | c.-26 others(32): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134547614 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 NA19043.hp2 |
a0001a0008 | a0001c0003a0008c0009 | a0001c0003t0003a0008c0009t0001 | a0001c0003t0003g0170 a0001c0003t0003g0171 a0008c0009t0001g0135 |
3 | 9 | 0.3333 | 15 | c.106 others(32): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP68_chr2_65051416_65092004 | 65089702 | A | ATTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | NA18948.hp2 NA19000.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0021 a0002c0002t0002g0062 |
2 | 22 | 0.0909 | 15 | c.*60 others(26): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 2699 | chr2 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 649865 | C | CTGTGAGG others(8): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0077 | 1 | 68 | 0.0147 | 15 | c.177 others(34): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12683186 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03579.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0053 a0001c0001t0002g0269 |
2 | 250 | 0.0080 | 15 | c.112 others(34): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 8/11 | chr18 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94343470 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0358 | 1 | 94 | 0.0106 | 15 | c.134 others(34): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 11/16 | chr12 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118496356 | T | TTTTTATT others(8): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00735.hp2 HG02129.hp1 others(15): Show |
a0002a0003a0007 | a0002c0002a0003c0003a0007c0007 | a0002c0002t0002a0002c0002t0014a0003c0003t0002others(2): Show | a0002c0002t0002g0173 a0002c0002t0002g0179 a0002c0002t0002g0188 others(15): Show |
18 | 168 | 0.1071 | 15 | c.125 others(34): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 5/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118519473 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0002 | a0002c0002t0029 | a0002c0002t0029g0182 | 1 | 265 | 0.0038 | 15 | c.113 others(34): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118519474 | G | GTGTGTGT others(8): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0206 | 1 | 254 | 0.0039 | 15 | c.113 others(34): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118542900 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG01069.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0201 a0002c0002t0002g0214 a0002c0002t0002g0220 others(4): Show |
7 | 63 | 0.1111 | 15 | c.102 others(36): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar |