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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP126_chr11_101910010_102006062 | 102003203 | T | TATATATA others(6): Show |
downstream_gene_variant | MODIFIER | NA18987.hp1 | a0002 | a0002c0003 | a0002c0003t0029 | a0002c0003t0029g0027 | 1 | 336 | 0.0030 | 13 | c.*55 others(24): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2142 | chr11 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 102003215 | T | TATATATA others(6): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 HG03225.hp1 |
a0003 | a0003c0004 | a0003c0004t0021a0003c0004t0052 | a0003c0004t0021g0318 a0003c0004t0052g0313 |
2 | 328 | 0.0061 | 13 | c.*55 others(24): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2154 | chr11 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80561913 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0013 | a0013c0017 | a0013c0017t0001 | a0013c0017t0001g0007 | 1 | 162 | 0.0062 | 13 | c.285 others(32): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 20/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80563524 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 53 | 0.0189 | 13 | c.285 others(32): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 20/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80596819 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02818.hp1 NA19030.hp1 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0005a0005c0005t0001 | a0001c0001t0005g0053 a0005c0005t0001g0055 |
2 | 15 | 0.1333 | 13 | c.280 others(34): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80642089 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02818.hp2 HG02970.hp1 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0005a0001c0009t0006a0002c0002t0004others(2): Show | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0009t0006g0153 others(4): Show |
7 | 26 | 0.2692 | 13 | c.280 others(34): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80656323 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0017 | 1 | 154 | 0.0065 | 13 | c.280 others(34): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80673645 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02886.hp1 |
a0001a0010 | a0001c0001a0010c0020 | a0001c0001t0004a0010c0020t0004 | a0001c0001t0004g0162 a0010c0020t0004g0163 |
2 | 20 | 0.1000 | 13 | c.280 others(34): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80678045 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0092 | 1 | 129 | 0.0078 | 13 | c.280 others(34): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80729058 | G | GTGTGTGT others(6): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 46 | 0.0217 | 13 | c.280 others(34): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80732520 | G | GTGTGTGT others(6): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0080 | 1 | 161 | 0.0062 | 13 | c.280 others(34): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80805045 | G | GCCACCTC others(6): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 162 | 0.0062 | 13 | c.121 others(34): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80810323 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG03490.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0022 others(5): Show |
8 | 55 | 0.1455 | 13 | c.121 others(34): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80821934 | C | CGTCTGAC others(6): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00733.hp2 others(106): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0008a0001c0009others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0012 others(106): Show |
109 | 162 | 0.6728 | 13 | c.120 others(32): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80935646 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0127 | 1 | 51 | 0.0196 | 13 | c.-16 others(30): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 2/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80946348 | A | ATCATGAT others(6): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG03139.hp1 NA18942.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0005g0002 others(2): Show |
5 | 162 | 0.0309 | 13 | c.-49 others(24): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 4611 | chr14 | TogoVar | |||||||
CEP152_chr15_48732938_48816069 | 48765636 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0287 | 1 | 92 | 0.0109 | 13 | c.228 others(32): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 17/26 | chr15 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84159548 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0183 | 1 | 177 | 0.0056 | 13 | c.278 others(32): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | |||||||
CEP164_chr11_117322854_117418266 | 117337510 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0006 | a0006c0006 | a0006c0006t0007 | a0006c0006t0007g0051 | 1 | 302 | 0.0033 | 13 | c.-21 others(30): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243159763 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0259 | 1 | 79 | 0.0127 | 13 | c.367 others(32): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 13/19 | chr1 | TogoVar | |||||||
CEP20_chr16_15860719_15893603 | 15890556 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG02647.hp2 HG03130.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0004 | a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0005g0057 others(2): Show |
5 | 159 | 0.0314 | 13 | c.-19 others(24): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 1954 | chr16 | TogoVar | |||||||
CEP250_chr20_35450598_35524280 | 35451050 | A | ATATATAT others(6): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01167.hp1 others(14): Show |
a0001a0010a0018 | a0001c0001a0010c0031a0018c0032 | a0001c0001t0001a0001c0001t0013a0001c0001t0018others(6): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0146 others(13): Show |
17 | 221 | 0.0769 | 13 | c.-49 others(24): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 4547 | chr20 | TogoVar | |||||||
CEP350_chr1_179949810_180119875 | 180090556 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 245 | 0.0041 | 13 | c.642 others(30): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180090557 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01109.hp1 HG01891.hp2 others(12): Show |
a0001a0015 | a0001c0001a0001c0033a0015c0019 | a0001c0001t0001a0001c0033t0001a0015c0019t0001 | a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0150 others(12): Show |
15 | 172 | 0.0872 | 13 | c.642 others(30): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130392392 | A | ACACACAC others(6): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0300 | 1 | 341 | 0.0029 | 13 | c.*64 others(24): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1378 | chr7 | TogoVar | |||||||
CEP41_chr7_130388771_130446016 | 130410026 | C | CTTCTTTT others(6): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01934.hp1 HG02165.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0008 a0001c0001t0013g0031 a0001c0001t0013g0032 others(2): Show |
6 | 162 | 0.0370 | 13 | c.277 others(30): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
CEP57L1_chr6_109090507_109179418 | 109116120 | A | ATTTTATT others(6): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0003 | a0003c0005 | a0003c0005t0033 | a0003c0005t0033g0215 | 1 | 218 | 0.0046 | 13 | c.-4+ others(30): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109177637 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0160 | 1 | 55 | 0.0182 | 13 | c.*14 others(26): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 3220 | chr6 | TogoVar | |||||||
CEP63_chr3_134481057_134570031 | 134547614 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0007a0001c0001t0024a0005c0013t0007 | a0001c0001t0007g0114 a0001c0001t0007g0116 a0001c0001t0007g0117 others(2): Show |
5 | 11 | 0.4545 | 13 | c.106 others(30): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134557376 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03453.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0207 a0001c0003t0001g0152 |
2 | 74 | 0.0270 | 13 | c.146 others(30): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP68_chr2_65051416_65092004 | 65089702 | A | ATTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp1 others(34): Show |
a0001a0002a0013others(1): Show | a0001c0030a0002c0002a0002c0010others(2): Show | a0001c0030t0036a0002c0002t0002a0002c0002t0026others(3): Show | a0001c0030t0036g0052 a0002c0002t0002g0001 a0002c0002t0002g0015 others(15): Show |
37 | 57 | 0.6491 | 13 | c.*60 others(24): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 2699 | chr2 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 610920 | G | GCTCCTGC others(6): Show |
upstream_gene_variant | MODIFIER | NA18971.hp1 NA19065.hp1 |
a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0005 | 2 | 90 | 0.0222 | 13 | c.-14 others(24): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 1419 | chr5 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 649066 | G | GGACTGTG others(6): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
a0003 | a0003c0003a0003c0005 | a0003c0003t0002a0003c0005t0002 | a0003c0003t0002g0023 a0003c0003t0002g0025 a0003c0003t0002g0026 others(3): Show |
6 | 90 | 0.0667 | 13 | c.177 others(32): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 649343 | G | GGACTGTG others(6): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 90 | 0.0111 | 13 | c.177 others(32): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 649491 | G | GGACTGTG others(6): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 79 | 0.0127 | 13 | c.177 others(32): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 649609 | G | GGACTGTG others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(7): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0001a0005c0007t0001 | a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 others(7): Show |
10 | 89 | 0.1124 | 13 | c.177 others(32): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 649731 | G | GGACTGTG others(6): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01243.hp1 HG02683.hp1 others(6): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0001a0005c0007t0001 | a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0072 others(6): Show |
9 | 90 | 0.1000 | 13 | c.177 others(32): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 649745 | G | GGACTGTG others(6): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(17): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0004 | a0001c0001t0001a0001c0006t0001a0004c0004t0003 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(15): Show |
20 | 90 | 0.2222 | 13 | c.177 others(32): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650202 | G | GGACTGTG others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 HG04115.hp2 NA20752.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0072 a0002c0002t0001g0079 a0002c0002t0001g0080 others(1): Show |
4 | 84 | 0.0476 | 13 | c.177 others(32): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650869 | G | GGACTGTG others(6): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 89 | 0.0112 | 13 | c.177 others(32): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 651006 | G | GGACTGTG others(6): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 90 | 0.0111 | 13 | c.177 others(32): 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(6): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00609.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0002g0004 others(19): Show |
33 | 281 | 0.1174 | 13 | c.112 others(32): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 8/11 | chr18 | TogoVar | |||||||
CEP76_chr18_12667625_12707723 | 12693852 | A | ATGTATAT others(6): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 378 | 0.0026 | 13 | c.804 others(30): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 6/11 | chr18 | TogoVar | |||||||
CEP76_chr18_12667625_12707723 | 12705604 | T | TGTGTGTG others(6): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 374 | 0.0027 | 13 | c.-30 others(24): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 2882 | chr18 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94331289 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG01358.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0013 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 others(4): Show |
7 | 134 | 0.0522 | 13 | c.170 others(30): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 14/16 | chr12 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94331302 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0027 | 1 | 337 | 0.0030 | 13 | c.170 others(30): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 14/16 | chr12 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94343470 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03139.hp1 HG03516.hp2 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0004c0007t0001g0104 |
3 | 96 | 0.0313 | 13 | c.134 others(32): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 11/16 | chr12 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118542900 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03491.hp1 NA18982.hp1 NA18992.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0197 a0002c0002t0002g0212 a0002c0002t0002g0215 |
3 | 59 | 0.0508 | 13 | c.102 others(34): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118542919 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0230 | 1 | 300 | 0.0033 | 13 | c.102 others(34): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118542923 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0173 | 1 | 300 | 0.0033 | 13 | c.102 others(34): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar |