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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP192_chr18_12986362_13130036 | 13000091 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03704.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0161 | 1 | 392 | 0.0026 | -10 | c.164 others(25): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 2/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CEP192_chr18_12986362_13130036 | 13013242 | TGATGTCA others(3): Show |
T | intron_variant | MODIFIER | HG01928.hp2 | a0010 | a0010c0010 | a0010c0010t0002 | a0010c0010t0002g0079 | 1 | 392 | 0.0026 | -10 | c.519 others(25): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 5/44 | chr18 | TogoVar | |||||||
CEP192_chr18_12986362_13130036 | 13122832 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02622.hp1 HG02896.hp1 others(1): Show |
a0014a0025 | a0014c0012a0025c0031 | a0014c0012t0001a0025c0031t0001 | a0014c0012t0001g0011 a0014c0012t0001g0114 a0014c0012t0001g0115 others(1): Show |
4 | 392 | 0.0102 | -10 | c.747 others(29): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CEP20_chr16_15860719_15893603 | 15882769 | ATCTATCT others(3): Show |
A | intron_variant | MODIFIER | HG02015.hp2 HG02647.hp2 HG02717.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0048 others(3): Show |
14 | 433 | 0.0323 | -10 | c.226 others(27): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
CEP290_chr12_88044016_88147088 | 88066104 | CATAGATA others(3): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01255.hp2 HG01978.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0001g0172 others(2): Show |
5 | 234 | 0.0214 | -10 | c.613 others(29): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | TogoVar | |||||||
CEP290_chr12_88044016_88147088 | 88127043 | CACAAATT others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
a0001a0007a0013 | a0001c0017a0001c0018a0007c0011others(1): Show | a0001c0017t0001a0001c0018t0001a0007c0011t0001others(1): Show | a0001c0017t0001g0015 a0001c0018t0001g0016 a0007c0011t0001g0017 others(3): Show |
6 | 234 | 0.0256 | -10 | c.943 others(25): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | TogoVar | |||||||
CEP295NL_chr17_78885579_78908201 | 78893200 | GATGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG01106.hp2 others(14): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0015c0025 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0132 others(4): Show |
17 | 430 | 0.0395 | -10 | c.45- others(23): Show |
CEP295NL | ENSG00000178404.11 | transcript | ENST00000322630.3 | protein_coding | 2/2 | chr17 | TogoVar | |||||||
CEP295_chr11_93656682_93735358 | 93720926 | TGCATGTT others(3): Show |
T | intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0286 | 1 | 354 | 0.0028 | -10 | c.575 others(27): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 18/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP295_chr11_93656682_93735358 | 93721665 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG02886.hp2 |
a0011 | a0011c0018 | a0011c0018t0001 | a0011c0018t0001g0311 a0011c0018t0001g0312 |
2 | 354 | 0.0057 | -10 | c.585 others(27): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 19/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 179991707 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0023 | a0023c0028 | a0023c0028t0010 | a0023c0028t0010g0012 | 1 | 248 | 0.0040 | -10 | c.236 others(25): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180007839 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | NA19030.hp2 NA19043.hp1 |
a0008a0023 | a0008c0029a0023c0028 | a0008c0029t0010a0023c0028t0010 | a0008c0029t0010g0011 a0023c0028t0010g0012 |
2 | 248 | 0.0081 | -10 | c.124 others(29): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180090545 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(20): Show |
a0002a0006a0013 | a0002c0002a0006c0008a0006c0031others(1): Show | a0002c0002t0004a0002c0002t0015a0002c0002t0020others(4): Show | a0002c0002t0004g0020 a0002c0002t0004g0021 a0002c0002t0004g0022 others(20): Show |
23 | 248 | 0.0927 | -10 | c.642 others(27): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130392347 | GACACACA others(3): Show |
G | downstream_gene_variant | MODIFIER | HG03516.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0166 a0001c0001t0029g0167 |
2 | 346 | 0.0058 | -10 | c.*65 others(21): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1423 | chr7 | TogoVar | |||||||
CEP41_chr7_130388771_130446016 | 130407253 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG02523.hp1 NA19043.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0004c0004t0081 | a0001c0001t0002g0041 a0004c0004t0081g0296 |
2 | 346 | 0.0058 | -10 | c.278 others(27): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
CEP41_chr7_130388771_130446016 | 130437785 | AAAAGAAA others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0003g0129 a0001c0001t0005g0130 a0001c0001t0006g0012 others(35): Show |
40 | 346 | 0.1156 | -10 | c.33+ others(25): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
CEP44_chr4_174278911_174325328 | 174297651 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0060 | 1 | 388 | 0.0026 | -10 | c.-14 others(27): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320684 | CTGTGTGT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0211 | 1 | 388 | 0.0026 | -10 | c.*33 others(21): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 357 | chr4 | TogoVar | |||||||
CEP55_chr10_93491612_93534092 | 93509097 | AGCTTACA others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01074.hp1 others(10): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0003a0007c0007others(1): Show | a0001c0001t0001a0003c0003t0002a0003c0003t0008others(2): Show | a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 others(8): Show |
13 | 386 | 0.0337 | -10 | c.528 others(27): Show |
CEP55 | ENSG00000138180.16 | transcript | ENST00000371485.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109116084 | CATTTTAT others(3): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0140 | 1 | 228 | 0.0044 | -10 | c.-4+ others(27): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109116127 | GTGTTATG others(3): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01123.hp1 HG02083.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0049 others(14): Show |
17 | 228 | 0.0746 | -10 | c.-4+ others(27): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109120905 | GACACACG others(3): Show |
G | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02451.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0068a0002c0002t0074a0002c0002t0075others(1): Show | a0002c0002t0068g0009 a0002c0002t0074g0006 a0002c0002t0075g0008 others(1): Show |
4 | 228 | 0.0175 | -10 | c.-3- others(27): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109120912 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG01433.hp1 HG01952.hp1 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0052 | a0001c0001t0002g0061 a0001c0001t0002g0084 a0001c0001t0052g0189 |
3 | 228 | 0.0132 | -10 | c.-3- others(27): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109136700 | TTTTTATT others(3): Show |
T | intron_variant | MODIFIER | HG03704.hp1 HG04115.hp2 NA18998.hp1 others(1): Show |
a0001a0007 | a0001c0001a0007c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0042others(1): Show | a0001c0001t0001g0103 a0001c0001t0002g0057 a0001c0001t0042g0072 others(1): Show |
4 | 228 | 0.0175 | -10 | c.-3- others(25): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109142946 | GCTCTCTC others(3): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG00609.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0037 a0001c0001t0001g0060 a0001c0001t0001g0082 others(16): Show |
19 | 228 | 0.0833 | -10 | c.-3- others(25): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109152636 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG01884.hp2 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(18): Show | a0001c0001t0001g0035 a0001c0001t0006g0164 a0001c0001t0006g0166 others(22): Show |
25 | 228 | 0.1097 | -10 | c.463 others(27): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134500398 | ACATGTGA others(3): Show |
A | intron_variant | MODIFIER | HG03704.hp1 NA18940.hp2 NA18951.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0122 others(6): Show |
9 | 322 | 0.0280 | -10 | c.44+ others(25): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134551724 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0086 a0001c0001t0010g0090 a0001c0001t0010g0091 |
3 | 322 | 0.0093 | -10 | c.138 others(27): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134557376 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0001a0001c0003t0003a0001c0010t0001 | a0001c0001t0001g0008 a0001c0001t0001g0216 a0001c0001t0001g0286 others(13): Show |
17 | 322 | 0.0528 | -10 | c.146 others(27): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP68_chr2_65051416_65092004 | 65091924 | TAGGCTCA others(3): Show |
T | downstream_gene_variant | MODIFIER | NA18940.hp2 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0088 | 1 | 360 | 0.0028 | -10 | c.*82 others(21): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 4921 | chr2 | TogoVar | |||||||
CEP76_chr18_12667625_12707723 | 12668597 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 380 | 0.0026 | -10 | c.*47 others(21): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 4027 | chr18 | TogoVar | |||||||
CEP78_chr9_78231075_78284690 | 78236969 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 340 | 0.0029 | -10 | c.253 others(25): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CEP78_chr9_78231075_78284690 | 78244134 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG02109.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0067 | a0001c0001t0001g0029 a0001c0001t0001g0198 a0001c0001t0001g0200 others(2): Show |
6 | 340 | 0.0177 | -10 | c.778 others(25): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94303084 | AAAATAAT others(3): Show |
A | downstream_gene_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 364 | 0.0028 | -10 | c.*57 others(21): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 4613 | chr12 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94303693 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0275 | 1 | 364 | 0.0028 | -10 | c.*51 others(21): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 4004 | chr12 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94333045 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 364 | 0.0028 | -10 | c.157 others(27): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 13/16 | chr12 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94376690 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 364 | 0.0028 | -10 | c.802 others(25): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 7/16 | chr12 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94413825 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG01106.hp1 HG01123.hp1 others(27): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0002 | a0001c0001t0001g0067 a0001c0003t0001g0051 a0001c0003t0001g0052 others(27): Show |
30 | 364 | 0.0824 | -10 | c.-10 others(29): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 2/16 | chr12 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118491194 | TATACACA others(3): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02572.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0027 | a0002c0002t0002g0193 a0002c0002t0027g0186 |
2 | 302 | 0.0066 | -10 | c.143 others(27): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 6/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118496356 | TTTTTATT others(3): Show |
T | intron_variant | MODIFIER | HG01981.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0005 | 1 | 302 | 0.0033 | -10 | c.125 others(29): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 5/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118505409 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0228 | 1 | 302 | 0.0033 | -10 | c.125 others(29): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 5/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118519432 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | NA18972.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0264 | 1 | 302 | 0.0033 | -10 | c.113 others(29): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118529608 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0234 | 1 | 302 | 0.0033 | -10 | c.102 others(29): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118558626 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02280.hp1 others(5): Show |
a0005a0006 | a0005c0005a0006c0006 | a0005c0005t0008a0006c0006t0009a0006c0006t0021 | a0005c0005t0008g0250 a0005c0005t0008g0251 a0006c0006t0009g0244 others(5): Show |
8 | 302 | 0.0265 | -10 | c.102 others(29): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118567209 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG02109.hp1 HG02132.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0010a0002c0002t0002others(1): Show | a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0129 others(10): Show |
13 | 302 | 0.0431 | -10 | c.233 others(25): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118567241 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 302 | 0.0033 | -10 | c.233 others(25): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118567243 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG00621.hp1 NA19030.hp2 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0007a0005c0005t0015 | a0001c0001t0007g0103 a0005c0005t0015g0300 |
2 | 302 | 0.0066 | -10 | c.233 others(25): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85_chr1_26229200_26283808 | 26243311 | GTCTTGGT others(3): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00639.hp2 others(71): Show |
a0001a0007a0009 | a0001c0001a0001c0009a0007c0018others(1): Show | a0001c0001t0003a0001c0009t0003a0007c0018t0003others(1): Show | a0001c0001t0003g0003 a0001c0001t0003g0092 a0001c0001t0003g0098 others(69): Show |
74 | 342 | 0.2164 | -10 | c.56- others(23): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 2/13 | chr1 | TogoVar | |||||||
CEP85_chr1_26229200_26283808 | 26243991 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18961.hp1 NA19030.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0214 a0002c0002t0001g0216 |
2 | 342 | 0.0059 | -10 | c.56- others(23): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26250925 | CTTTTTTC others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00741.hp1 others(19): Show |
a0001a0003a0010 | a0001c0001a0001c0016a0003c0003others(3): Show | a0001c0001t0001a0001c0016t0011a0003c0003t0004others(3): Show | a0001c0001t0001g0315 a0001c0016t0011g0324 a0003c0003t0004g0300 others(19): Show |
22 | 342 | 0.0643 | -10 | c.209 others(27): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26268213 | TTTGGGAG others(3): Show |
T | intron_variant | MODIFIER | NA19055.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0282 | 1 | 342 | 0.0029 | -10 | c.134 others(27): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 7/13 | chr1 | TogoVar |