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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP112_chr17_65630537_66197133 | 65956405 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00735.hp1 others(32): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0001 | a0001c0002t0001g0011a0001c0002t0001g0014a0001c0002t0001g0021others(32): Show | 35 | 112 | 0.3125 | 10 | c.187 others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 18/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66009189 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0042a0001c0003t0001g0107 | 2 | 112 | 0.0179 | 10 | c.165 others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 16/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66025920 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0030 | 1 | 112 | 0.0089 | 10 | c.165 others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 16/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66092356 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00735.hp1 HG00741.hp1 others(28): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(2): Show | a0001c0002t0001g0034a0001c0002t0001g0035a0001c0002t0001g0053others(28): Show | 31 | 112 | 0.2768 | 10 | c.768 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 8/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66188286 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0105 | 1 | 112 | 0.0089 | 10 | c.-9+ others(25): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 1/26 | chr17 | TogoVar | ||||||
CEP120_chr5_123339892_123428403 | 123409989 | A | ACCACACA others(3): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0178 | 1 | 376 | 0.0027 | 10 | c.463 others(27): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 4/19 | chr5 | TogoVar | ||||||
CEP120_chr5_123339892_123428403 | 123414971 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0206 | 1 | 376 | 0.0027 | 10 | c.321 others(27): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 3/19 | chr5 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101917028 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0297 | 1 | 336 | 0.0030 | 10 | c.128 others(27): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101929974 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00673.hp1 others(39): Show |
a0002a0003a0007others(3): Show | a0002c0003a0003c0004a0007c0007others(3): Show | a0002c0003t0003a0002c0003t0007a0002c0003t0029others(7): Show | a0002c0003t0003g0002a0002c0003t0003g0011a0002c0003t0003g0014others(38): Show | 42 | 336 | 0.1250 | 10 | c.248 others(27): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101938159 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01517.hp1 HG02970.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0012 | a0001c0001t0002g0288a0001c0001t0004g0274a0001c0001t0012g0310others(1): Show | 4 | 336 | 0.0119 | 10 | c.249 others(27): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101938171 | A | AAACAAAA others(3): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0037 | a0001c0001t0036g0303a0001c0001t0037g0302 | 2 | 336 | 0.0060 | 10 | c.249 others(27): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101998592 | C | CAAAAAAA others(3): Show |
3_prime_UTR_variant | MODIFIER | HG02683.hp2 HG02818.hp2 HG03225.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0020a0001c0001t0062others(2): Show | a0001c0001t0011g0129a0001c0001t0011g0130a0001c0001t0011g0240others(6): Show | 9 | 336 | 0.0268 | 10 | c.*95 others(19): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 11/11 | 968 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
CEP126_chr11_101910010_102006062 | 102003173 | C | CATATATA others(3): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0013 | a0013c0018 | a0013c0018t0015 | a0013c0018t0015g0033 | 1 | 336 | 0.0030 | 10 | c.*55 others(21): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2112 | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 102003180 | G | GTATATAT others(3): Show |
downstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0237 | 1 | 336 | 0.0030 | 10 | c.*55 others(21): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2119 | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 102004895 | C | CATATATA others(3): Show |
downstream_gene_variant | MODIFIER | HG02129.hp2 HG02258.hp1 HG02523.hp2 others(6): Show |
a0001a0012 | a0001c0001a0001c0002a0012c0015 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0001g0046a0001c0001t0001g0082a0001c0001t0005g0042others(6): Show | 9 | 336 | 0.0268 | 10 | c.*72 others(21): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3834 | chr11 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80561896 | C | CTATATAT others(3): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 | 1 | 164 | 0.0061 | 10 | c.285 others(29): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 20/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80563524 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01515.hp2 HG02004.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0001c0019a0002c0002others(2): Show | a0001c0001t0001a0001c0019t0002a0002c0002t0003others(2): Show | a0001c0001t0001g0033a0001c0019t0002g0123a0002c0002t0003g0091others(3): Show | 6 | 164 | 0.0366 | 10 | c.285 others(29): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 20/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80596819 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01192.hp1 HG01243.hp2 others(6): Show |
a0001a0002a0006 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0009t0006others(3): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0004g0161others(6): Show | 9 | 164 | 0.0549 | 10 | c.280 others(31): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80617219 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 HG02922.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0029a0001c0001t0004g0160others(4): Show | 7 | 164 | 0.0427 | 10 | c.280 others(31): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80619367 | G | GACACACA others(3): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02080.hp2 HG02109.hp2 others(16): Show |
a0001a0002a0006 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0032a0001c0001t0002g0102a0001c0001t0002g0107others(16): Show | 19 | 164 | 0.1159 | 10 | c.280 others(31): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80642089 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG00735.hp1 others(58): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0012a0001c0014others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0025others(58): Show | 61 | 164 | 0.3720 | 10 | c.280 others(31): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80646994 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0093 | 1 | 164 | 0.0061 | 10 | c.280 others(31): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80656279 | T | TTATTTAT others(3): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03098.hp1 |
a0001a0005 | a0001c0008a0005c0005 | a0001c0008t0005a0005c0005t0009 | a0001c0008t0005g0017a0005c0005t0009g0050 | 2 | 164 | 0.0122 | 10 | c.280 others(31): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80656291 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0008 | a0008c0011 | a0008c0011t0002 | a0008c0011t0002g0109 | 1 | 164 | 0.0061 | 10 | c.280 others(31): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80673645 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03041.hp1 HG03098.hp1 others(2): Show |
a0001a0005a0010 | a0001c0001a0001c0009a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0009t0006others(2): Show | a0001c0001t0001g0029a0001c0001t0005g0053a0001c0009t0006g0154others(2): Show | 5 | 164 | 0.0305 | 10 | c.280 others(31): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80678045 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0090 | 1 | 164 | 0.0061 | 10 | c.280 others(31): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80711295 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02647.hp1 |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0003a0006c0007t0004 | a0002c0002t0003g0089a0006c0007t0004g0148 | 2 | 164 | 0.0122 | 10 | c.280 others(31): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80729056 | G | GGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0062 | 1 | 164 | 0.0061 | 10 | c.280 others(31): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80729058 | G | GGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02572.hp1 HG04115.hp2 NA18947.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0004 | a0001c0001t0001g0039a0001c0001t0004g0094a0002c0002t0004g0073 | 3 | 164 | 0.0183 | 10 | c.280 others(31): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80732471 | G | GGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02257.hp1 HG02572.hp1 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0006a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0001a0001c0001t0004g0094a0001c0001t0005g0051others(4): Show | 7 | 164 | 0.0427 | 10 | c.280 others(31): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80732515 | T | TGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0083 | 1 | 164 | 0.0061 | 10 | c.280 others(31): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80740449 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0043 | 1 | 164 | 0.0061 | 10 | c.280 others(29): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80810323 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0048 | 1 | 164 | 0.0061 | 10 | c.121 others(31): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80810697 | C | CTTTGGGA others(3): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0091 | 1 | 164 | 0.0061 | 10 | c.121 others(31): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80821600 | T | TACATACA others(3): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0151 | 1 | 164 | 0.0061 | 10 | c.120 others(29): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80909371 | T | TCACACAC others(3): Show |
intron_variant | MODIFIER | HG01261.hp1 HG03098.hp1 HG03710.hp1 others(2): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0004a0002c0002t0003a0002c0002t0004others(1): Show | a0001c0001t0004g0137a0002c0002t0003g0077a0002c0002t0003g0090others(2): Show | 5 | 164 | 0.0305 | 10 | c.235 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 4/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80935646 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02080.hp2 HG02083.hp2 others(6): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0011 | a0001c0001t0002a0001c0001t0006a0003c0003t0006others(1): Show | a0001c0001t0002g0112a0001c0001t0002g0113a0001c0001t0002g0115others(6): Show | 9 | 164 | 0.0549 | 10 | c.-16 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 2/24 | chr14 | TogoVar | ||||||
CEP135_chr4_55943945_56038361 | 55961764 | T | TAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02132.hp1 NA18974.hp2 others(4): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0002a0001c0001t0009a0007c0009t0002 | a0001c0001t0002g0010a0001c0001t0002g0023a0001c0001t0002g0070others(3): Show | 7 | 346 | 0.0202 | 10 | c.699 others(27): 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(3): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(113): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0015a0001c0016others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0019others(7): Show | a0001c0001t0002g0005a0001c0001t0002g0008a0001c0001t0002g0009others(105): Show | 116 | 346 | 0.3353 | 10 | c.*15 others(21): Show |
CEP135 | ENSG00000174799.12 | transcript | ENST00000257287.5 | protein_coding | 26/26 | 8269 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
CEP152_chr15_48732938_48816069 | 48741130 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(154): Show |
a0001a0002a0006others(9): Show | a0001c0001a0001c0016a0001c0036others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0010others(146): Show | 157 | 342 | 0.4591 | 10 | c.409 others(27): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 26/26 | chr15 | TogoVar | ||||||
CEP152_chr15_48732938_48816069 | 48777466 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0059others(20): Show | 23 | 342 | 0.0673 | 10 | c.157 others(29): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 12/26 | chr15 | TogoVar | ||||||
CEP152_chr15_48732938_48816069 | 48787163 | G | GTTTTTTG others(3): Show |
intron_variant | MODIFIER | HG03831.hp1 HG04184.hp2 |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0001a0008c0008t0001 | a0001c0001t0001g0188a0008c0008t0001g0189 | 2 | 342 | 0.0059 | 10 | c.117 others(29): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 9/26 | chr15 | TogoVar | ||||||
CEP152_chr15_48732938_48816069 | 48787163 | G | GTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01106.hp1 HG01884.hp1 others(15): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0009a0001c0024others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0009t0005others(8): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0020others(15): Show | 18 | 342 | 0.0526 | 10 | c.117 others(29): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 9/26 | chr15 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84156743 | G | GACACACA others(3): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02109.hp1 HG02258.hp2 others(11): Show |
a0001a0003a0006 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0002a0001c0004t0002a0001c0005t0004others(3): Show | a0001c0001t0002g0199a0001c0001t0002g0201a0001c0004t0002g0012others(11): Show | 14 | 214 | 0.0654 | 10 | c.278 others(29): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84159519 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0011 | a0011c0018 | a0011c0018t0003 | a0011c0018t0003g0039 | 1 | 214 | 0.0047 | 10 | c.278 others(29): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84159547 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0206 | 1 | 214 | 0.0047 | 10 | c.278 others(29): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84214394 | T | TGGGGAAC others(3): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 214 | 0.0047 | 10 | c.503 others(25): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 5/26 | chr6 | TogoVar | ||||||
CEP164_chr11_117322854_117418266 | 117331981 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02922.hp1 HG03486.hp1 others(1): Show |
a0002a0005 | a0002c0001a0005c0006 | a0002c0001t0003a0005c0006t0008 | a0002c0001t0003g0097a0002c0001t0003g0363a0002c0001t0003g0364others(1): Show | 4 | 390 | 0.0103 | 10 | c.-97 others(27): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP164_chr11_117322854_117418266 | 117337510 | T | TAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02897.hp1 NA18988.hp1 NA19077.hp1 |
a0003a0006 | a0003c0003a0006c0007 | a0003c0003t0004a0003c0003t0005a0006c0007t0006 | a0003c0003t0004g0132a0003c0003t0005g0083a0006c0007t0006g0029 | 3 | 390 | 0.0077 | 10 | c.-21 others(27): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP164_chr11_117322854_117418266 | 117416446 | A | AAAAAAAA others(3): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0094 | 1 | 390 | 0.0026 | 10 | c.*42 others(21): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 3181 | chr11 | TogoVar |