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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CENPU_chr4_184689085_184739096 | 184699356 | A | AAATAAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00733.hp2 others(47): Show |
a0003a0005a0006others(1): Show | a0003c0003a0003c0008a0005c0005others(3): Show | a0003c0003t0003a0003c0008t0004a0005c0005t0004others(3): Show | a0003c0003t0003g0026a0003c0003t0003g0027a0003c0003t0003g0245others(36): Show | 50 | 358 | 0.1397 | 8 | c.986 others(25): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 11/12 | chr4 | TogoVar | ||||||
CENPU_chr4_184689085_184739096 | 184721457 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01109.hp1 others(13): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0026a0003c0003t0003g0027a0003c0003t0003g0267others(11): Show | 16 | 358 | 0.0447 | 8 | c.320 others(25): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 4/12 | chr4 | TogoVar | ||||||
CENPU_chr4_184689085_184739096 | 184727116 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01109.hp1 others(14): Show |
a0003 | a0003c0003a0003c0008 | a0003c0003t0003a0003c0008t0004 | a0003c0003t0003g0026a0003c0003t0003g0027a0003c0003t0003g0267others(12): Show | 17 | 358 | 0.0475 | 8 | c.214 others(25): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 3/12 | chr4 | TogoVar | ||||||
CENPU_chr4_184689085_184739096 | 184731883 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03130.hp1 NA18906.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0002c0002t0002 | a0001c0001t0010g0145a0001c0001t0010g0146a0001c0001t0010g0148others(1): Show | 4 | 358 | 0.0112 | 8 | c.48- others(21): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
CENPVL2_chrX_51676212_51687831 | 51685792 | T | TTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | NA19084.hp2 NA20129.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0000a0002c0002t0001g0000 | 2 | 237 | 0.0084 | 8 | c.-29 others(19): Show |
CENPVL2 | ENSG00000283093.1 | transcript | ENST00000634648.1 | protein_coding | 2962 | chrX | TogoVar | ||||||
CENPX_chr17_82013703_82027878 | 82026562 | C | CTCTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 HG02647.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0007a0001c0001t0004g0009 | 3 | 402 | 0.0075 | 8 | c.-37 others(19): Show |
CENPX | ENSG00000169689.15 | transcript | ENST00000392359.8 | protein_coding | 3685 | chr17 | TogoVar | ||||||
CENPX_chr17_82013703_82027878 | 82026564 | T | TTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG00738.hp1 others(23): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0020others(6): Show | 26 | 402 | 0.0647 | 8 | c.-37 others(19): Show |
CENPX | ENSG00000169689.15 | transcript | ENST00000392359.8 | protein_coding | 3687 | chr17 | TogoVar | ||||||
CENPX_chr17_82013703_82027878 | 82026599 | T | TGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02559.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0019 | 5 | 402 | 0.0124 | 8 | c.-37 others(19): Show |
CENPX | ENSG00000169689.15 | transcript | ENST00000392359.8 | protein_coding | 3722 | chr17 | TogoVar | ||||||
CEP104_chr1_3807086_3862211 | 3807443 | T | TTTTATTT others(1): Show |
downstream_gene_variant | MODIFIER | HG03491.hp1 NA18941.hp1 NA18979.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0179a0003c0003t0002g0195a0003c0003t0002g0221 | 3 | 382 | 0.0079 | 8 | c.*79 others(19): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 4642 | chr1 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65660177 | C | CTCCTTCC others(1): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02976.hp2 HG03139.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0020a0001c0002t0001g0034a0001c0002t0001g0076others(2): Show | 5 | 112 | 0.0446 | 8 | c.269 others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65667558 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02027.hp2 HG03831.hp2 NA18983.hp2 |
a0001a0003 | a0001c0003a0003c0005 | a0001c0003t0001a0001c0003t0002a0003c0005t0001 | a0001c0003t0001g0062a0001c0003t0002g0109a0003c0005t0001g0048 | 3 | 112 | 0.0268 | 8 | c.269 others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65704420 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02965.hp1 NA20129.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0023a0002c0001t0001g0079 | 2 | 112 | 0.0179 | 8 | c.260 others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 23/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65844642 | G | GCCACTGC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(103): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0002c0001others(5): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(12): Show | a0001c0002t0001g0011a0001c0002t0001g0014a0001c0002t0001g0020others(103): Show | 106 | 112 | 0.9464 | 8 | c.239 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65870014 | T | TAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02559.hp2 others(7): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(2): Show | a0001c0002t0001g0061a0001c0002t0001g0084a0001c0003t0001g0009others(7): Show | 10 | 112 | 0.0893 | 8 | c.216 others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65881401 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01346.hp2 HG02145.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0001 | a0001c0003t0001g0006a0001c0003t0001g0105a0002c0001t0001g0024others(1): Show | 4 | 112 | 0.0357 | 8 | c.216 others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65883263 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG03579.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006a0001c0003t0001g0106 | 2 | 112 | 0.0179 | 8 | c.216 others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65916250 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | NA18986.hp1 NA19063.hp1 NA20129.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0051a0001c0002t0001g0103a0002c0001t0001g0015 | 3 | 112 | 0.0268 | 8 | c.198 others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 19/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65916287 | G | GTGTATGT others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG00741.hp1 others(9): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001a0001c0003t0002 | a0001c0002t0001g0011a0001c0002t0001g0053a0001c0002t0001g0054others(9): Show | 12 | 112 | 0.1071 | 8 | c.198 others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 19/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65920362 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01258.hp2 HG02965.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0004 | a0001c0002t0001a0002c0001t0001a0002c0004t0001 | a0001c0002t0001g0011a0002c0001t0001g0025a0002c0001t0001g0044others(3): Show | 6 | 112 | 0.0536 | 8 | c.198 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 19/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65951749 | C | CCCCCCCC others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01123.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011a0001c0002t0001g0056a0001c0002t0001g0057others(12): Show | 15 | 112 | 0.1339 | 8 | c.187 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 18/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65956405 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 NA18986.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0069a0001c0002t0001g0076 | 2 | 112 | 0.0179 | 8 | c.187 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 18/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65978256 | T | TAAAAGAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(104): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0002c0001others(7): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(15): Show | a0001c0002t0001g0011a0001c0002t0001g0014a0001c0002t0001g0020others(104): Show | 107 | 112 | 0.9554 | 8 | c.173 others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66092356 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00642.hp1 others(22): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0002c0001others(3): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(4): Show | a0001c0002t0001g0011a0001c0002t0001g0014a0001c0002t0001g0061others(22): Show | 25 | 112 | 0.2232 | 8 | c.768 others(25): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 8/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66168433 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02145.hp1 HG02280.hp1 others(1): Show |
a0001a0002a0004 | a0001c0003a0002c0001a0004c0006 | a0001c0003t0002a0002c0001t0002a0004c0006t0002 | a0001c0003t0002g0109a0001c0003t0002g0112a0002c0001t0002g0111others(1): Show | 4 | 112 | 0.0357 | 8 | c.470 others(25): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 4/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66188286 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01891.hp2 HG03579.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0088a0001c0003t0001g0005a0001c0003t0001g0106 | 3 | 112 | 0.0268 | 8 | c.-9+ others(23): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 1/26 | chr17 | TogoVar | ||||||
CEP120_chr5_123339892_123428403 | 123381377 | A | AGGAGCAC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(179): Show |
a0001a0002a0003others(3): Show | a0001c0006a0001c0011a0001c0016others(8): Show | a0001c0006t0001a0001c0006t0002a0001c0006t0003others(18): Show | a0001c0006t0001g0103a0001c0006t0002g0006a0001c0006t0002g0204others(159): Show | 182 | 376 | 0.4840 | 8 | c.210 others(25): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 14/19 | chr5 | TogoVar | ||||||
CEP120_chr5_123339892_123428403 | 123409989 | A | ACCACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00642.hp1 others(30): Show |
a0002a0003 | a0002c0002a0003c0003a0003c0018 | a0002c0002t0001a0002c0002t0018a0003c0003t0001others(1): Show | a0002c0002t0001g0019a0002c0002t0001g0095a0002c0002t0001g0143others(29): Show | 33 | 376 | 0.0878 | 8 | c.463 others(25): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 4/19 | chr5 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101954020 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00597.hp2 others(119): Show |
a0001a0007a0009 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(22): Show | a0001c0001t0002g0051a0001c0001t0002g0054a0001c0001t0002g0079others(116): Show | 122 | 336 | 0.3631 | 8 | c.507 others(25): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101998592 | C | CAAAAAAA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(35): Show |
a0002a0005a0007others(2): Show | a0002c0003a0005c0006a0007c0007others(2): Show | a0002c0003t0003a0005c0006t0013a0005c0006t0016others(4): Show | a0002c0003t0003g0002a0002c0003t0003g0011a0002c0003t0003g0012others(35): Show | 38 | 336 | 0.1131 | 8 | c.*96 others(17): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 11/11 | 968 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
CEP126_chr11_101910010_102006062 | 102003186 | G | GTGTATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 HG03579.hp2 NA19076.hp2 |
a0002a0005 | a0002c0003a0005c0006 | a0002c0003t0007a0005c0006t0013 | a0002c0003t0007g0020a0005c0006t0013g0306a0005c0006t0013g0312 | 3 | 336 | 0.0089 | 8 | c.*55 others(19): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2125 | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 102004895 | C | CATATATA others(1): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 HG01993.hp2 HG02257.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(1): Show | a0001c0001t0001g0063a0001c0001t0001g0088a0001c0002t0001g0164others(5): Show | 8 | 336 | 0.0238 | 8 | c.*72 others(19): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3834 | chr11 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80541443 | T | TTAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02559.hp2 HG03942.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0003 | a0001c0001t0001g0016a0001c0001t0006g0118a0002c0002t0003g0089 | 3 | 164 | 0.0183 | 8 | c.288 others(29): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 21/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80561896 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00735.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0008t0005others(3): Show | a0001c0001t0002g0099a0001c0001t0006g0118a0001c0001t0006g0119others(5): Show | 8 | 164 | 0.0488 | 8 | c.285 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 20/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80563524 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18979.hp2 NA18980.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0032a0001c0001t0001g0045a0001c0001t0002g0124others(3): Show | 6 | 164 | 0.0366 | 8 | c.285 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 20/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80617219 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03130.hp2 HG03490.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0005c0005t0001others(1): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(3): Show | 6 | 164 | 0.0366 | 8 | c.280 others(29): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80619367 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG02818.hp1 others(5): Show |
a0001a0006a0012 | a0001c0001a0001c0014a0001c0019others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0014t0003others(3): Show | a0001c0001t0001g0026a0001c0001t0005g0002a0001c0001t0005g0053others(5): Show | 8 | 164 | 0.0488 | 8 | c.280 others(29): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80626680 | C | CCTTAACT others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01891.hp2 HG02615.hp1 others(8): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0005a0006c0007others(1): Show | a0001c0001t0001a0001c0001t0005a0005c0005t0001others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0005g0004others(8): Show | 11 | 164 | 0.0671 | 8 | c.280 others(29): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80647126 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG03098.hp1 NA18942.hp1 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0009 | a0001c0001t0001g0001a0005c0005t0009g0050 | 2 | 164 | 0.0122 | 8 | c.280 others(29): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80711295 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01891.hp2 HG02886.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0015t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0029others(7): Show | 10 | 164 | 0.0610 | 8 | c.280 others(29): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80732471 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01515.hp2 HG02280.hp2 others(7): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0012a0001c0022others(6): Show | a0001c0001t0001a0001c0012t0001a0001c0022t0005others(7): Show | a0001c0001t0001g0030a0001c0012t0001g0049a0001c0022t0005g0015others(7): Show | 10 | 164 | 0.0610 | 8 | c.280 others(29): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80733339 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02922.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0012a0001c0001t0005g0006a0001c0001t0005g0014 | 3 | 164 | 0.0183 | 8 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80740449 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 NA18942.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0005g0004 | 3 | 164 | 0.0183 | 8 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80740543 | T | TAGATAGA others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03041.hp1 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0029a0001c0012t0001g0049 | 2 | 164 | 0.0122 | 8 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80740551 | C | CAGACAGA others(1): Show |
intron_variant | MODIFIER | HG02523.hp1 NA18947.hp2 NA18952.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0113a0001c0001t0002g0134a0001c0001t0006g0100others(1): Show | 4 | 164 | 0.0244 | 8 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80740551 | C | CAGATAGA others(1): Show |
intron_variant | MODIFIER | HG03195.hp1 NA19005.hp1 |
a0002a0011 | a0002c0002a0011c0018 | a0002c0002t0003a0011c0018t0004 | a0002c0002t0003g0081a0011c0018t0004g0064 | 2 | 164 | 0.0122 | 8 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80909371 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01433.hp2 HG01934.hp2 others(31): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0009others(8): Show | a0001c0001t0004a0001c0001t0005a0001c0008t0005others(12): Show | a0001c0001t0004g0094a0001c0001t0005g0002a0001c0001t0005g0051others(31): Show | 34 | 164 | 0.2073 | 8 | c.235 others(25): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 4/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80935556 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02132.hp1 others(8): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0002a0001c0001t0006a0002c0002t0003others(6): Show | a0001c0001t0002g0157a0001c0001t0006g0155a0002c0002t0003g0078others(8): Show | 11 | 164 | 0.0671 | 8 | c.-16 others(25): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 2/24 | chr14 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81225001 | C | CTTATTTA others(1): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 HG02630.hp1 HG02895.hp2 others(19): Show |
a0005a0012a0014others(4): Show | a0005c0006a0012c0016a0014c0024others(7): Show | a0005c0006t0001a0012c0016t0001a0014c0024t0001others(7): Show | a0005c0006t0001g0005a0005c0006t0001g0022a0005c0006t0001g0250others(16): Show | 22 | 384 | 0.0573 | 8 | c.-22 others(19): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 2037 | chr17 | TogoVar | ||||||
CEP135_chr4_55943945_56038361 | 55961764 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02145.hp1 HG03579.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009a0001c0001t0002g0064a0001c0001t0002g0065others(10): Show | 14 | 346 | 0.0405 | 8 | c.699 others(25): Show |
CEP135 | ENSG00000174799.12 | transcript | ENST00000257287.5 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CEP135_chr4_55943945_56038361 | 56032847 | A | AGTGTGTG others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG02004.hp2 HG02300.hp1 others(6): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0011a0001c0001t0013a0001c0001t0014others(1): Show | a0001c0001t0011g0025a0001c0001t0011g0026a0001c0001t0013g0007others(6): Show | 9 | 346 | 0.0260 | 8 | c.*15 others(19): Show |
CEP135 | ENSG00000174799.12 | transcript | ENST00000257287.5 | protein_coding | 26/26 | 8269 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |