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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CENPVL1_chrX_51705512_51717131 | 51707495 | AACACACA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01109.hp1 HG01891.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0000 a0002c0002t0001g0000 |
10 | 238 | 0.0420 | -10 | c.-30 others(21): Show |
CENPVL1 | ENSG00000223591.5 | transcript | ENST00000602548.2 | protein_coding | 3016 | chrX | TogoVar | |||||||
CENPVL2_chrX_51676212_51687831 | 51685792 | TTGTGTGT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01361.hp1 HG01952.hp1 HG01978.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000 a0001c0001t0002g0000 |
11 | 237 | 0.0464 | -10 | c.-29 others(21): Show |
CENPVL2 | ENSG00000283093.1 | transcript | ENST00000634648.1 | protein_coding | 2962 | chrX | TogoVar | |||||||
CENPVL2_chrX_51676212_51687831 | 51685834 | GTGTGTGT others(3): Show |
G | upstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 237 | 0.0042 | -10 | c.-30 others(21): Show |
CENPVL2 | ENSG00000283093.1 | transcript | ENST00000634648.1 | protein_coding | 3004 | chrX | TogoVar | |||||||
CEP104_chr1_3807086_3862211 | 3846086 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00609.hp2 others(46): Show |
a0001a0017 | a0001c0001a0017c0023 | a0001c0001t0004a0001c0001t0005a0001c0001t0013others(5): Show | a0001c0001t0004g0002 a0001c0001t0004g0141 a0001c0001t0004g0142 others(40): Show |
49 | 382 | 0.1283 | -10 | c.427 others(25): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 4/21 | chr1 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65649073 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG02976.hp1 HG03195.hp1 HG03492.hp1 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0008 | a0002c0001t0001g0045 a0002c0001t0001g0068 a0002c0001t0008g0040 |
3 | 112 | 0.0268 | -10 | c.269 others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65772575 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00735.hp2 others(13): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0002a0002c0001t0001others(1): Show | a0001c0002t0001g0011 a0001c0003t0002g0112 a0002c0001t0001g0018 others(13): Show |
16 | 112 | 0.1429 | -10 | c.239 others(31): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65846557 | TTTTTGTT others(3): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0042 a0001c0003t0001g0107 |
2 | 112 | 0.0179 | -10 | c.239 others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65852308 | CCCTTCCC others(3): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG03041.hp2 |
a0001a0002 | a0001c0003a0002c0007 | a0001c0003t0001a0002c0007t0001 | a0001c0003t0001g0005 a0002c0007t0001g0108 |
2 | 112 | 0.0179 | -10 | c.216 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65864913 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02280.hp2 HG02486.hp2 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0001c0003t0006others(1): Show | a0001c0002t0001g0059 a0001c0002t0001g0084 a0001c0003t0001g0009 others(4): Show |
7 | 112 | 0.0625 | -10 | c.216 others(31): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65920362 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02723.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0004 | a0001c0002t0001a0002c0001t0001a0002c0004t0001 | a0001c0002t0001g0060 a0002c0001t0001g0012 a0002c0001t0001g0013 others(3): Show |
6 | 112 | 0.0536 | -10 | c.198 others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 19/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66009189 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00735.hp1 others(22): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0001a0004c0005t0001 | a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 others(22): Show |
25 | 112 | 0.2232 | -10 | c.165 others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 16/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66034972 | GCATGTAT others(3): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00642.hp1 others(25): Show |
a0002 | a0002c0001a0002c0004 | a0002c0001t0001a0002c0001t0002a0002c0001t0004others(2): Show | a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0001t0001g0015 others(25): Show |
28 | 112 | 0.2500 | -10 | c.121 others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 12/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66067016 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00741.hp1 others(30): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0006others(2): Show | a0001c0002t0001g0011 a0001c0002t0001g0034 a0001c0002t0001g0035 others(30): Show |
33 | 112 | 0.2946 | -10 | c.856 others(25): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 9/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66078253 | TTTTCTTT others(3): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01255.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0047 others(7): Show |
10 | 112 | 0.0893 | -10 | c.769 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 8/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66139973 | CAATAAAG others(3): Show |
C | intron_variant | MODIFIER | HG01346.hp2 HG01891.hp2 HG02257.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0001 | a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0007 others(1): Show |
4 | 112 | 0.0357 | -10 | c.471 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 4/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66149878 | TTGTTTGT others(3): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02572.hp2 others(1): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0006 | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0002t0001g0075 a0001c0003t0001g0007 a0001c0003t0002g0112 others(1): Show |
4 | 112 | 0.0357 | -10 | c.471 others(29): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 4/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66168465 | GTGTGTAT others(3): Show |
G | intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0044 | 1 | 112 | 0.0089 | -10 | c.470 others(27): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 4/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66188276 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0001 | a0002c0001t0008 | a0002c0001t0008g0040 | 1 | 112 | 0.0089 | -10 | c.-9+ others(25): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 1/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66188286 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0065 | 1 | 112 | 0.0089 | -10 | c.-9+ others(25): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 1/26 | chr17 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101910422 | AAAATATA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0302 | 1 | 336 | 0.0030 | -10 | c.-48 others(21): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 4587 | chr11 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101917028 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG01978.hp2 HG02109.hp1 HG02257.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0049a0001c0002t0001a0002c0003t0003others(2): Show | a0001c0001t0049g0038 a0001c0002t0001g0149 a0002c0003t0003g0039 others(5): Show |
9 | 336 | 0.0268 | -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 | 102004895 | CATATATA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02922.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0003 | 2 | 336 | 0.0060 | -10 | c.*72 others(21): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3834 | chr11 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80536913 | GAGGGTAC others(3): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01123.hp2 HG01192.hp1 others(16): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0014a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(16): Show |
19 | 164 | 0.1159 | -10 | c.288 others(29): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 21/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80647009 | ATATGTGT others(3): Show |
A | intron_variant | MODIFIER | HG03098.hp2 HG03195.hp2 HG03486.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0002c0002t0003others(2): Show | a0001c0001t0002g0107 a0001c0001t0002g0129 a0001c0001t0002g0130 others(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 | 80647037 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG03942.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0016 a0002c0002t0003g0089 |
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 | 80656275 | TTATTTAT others(3): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG02083.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003a0002c0002t0004 | a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0040 others(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 | 80656281 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02647.hp1 |
a0006a0007 | a0006c0007a0007c0010 | a0006c0007t0004a0007c0010t0005 | a0006c0007t0004g0148 a0007c0010t0005g0056 |
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 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG02109.hp2 NA19007.hp1 |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0004a0008c0011t0002 | a0001c0001t0004g0162 a0008c0011t0002g0121 |
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 | 80673645 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0161 | 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 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0149 | 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 | 80729056 | GGGGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02970.hp1 HG03927.hp2 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0005a0002c0002t0004a0004c0004t0014 | a0001c0001t0005g0058 a0002c0002t0004g0080 a0004c0004t0014g0069 |
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 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02145.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006 | a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0005g0006 others(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 | 80733339 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG01433.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0164 | 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 | 80759907 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG00741.hp2 others(38): Show |
a0001a0003a0005 | a0001c0001a0001c0012a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 others(38): Show |
41 | 164 | 0.2500 | -10 | c.255 others(29): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 17/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80801908 | CCCAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0094 | 1 | 164 | 0.0061 | -10 | c.121 others(29): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80821600 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0086 | 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 | 80854150 | CTTTATAC others(3): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0004 | 1 | 164 | 0.0061 | -10 | c.762 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 9/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80944822 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01081.hp1 HG02109.hp2 HG02647.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0003 a0001c0001t0004g0160 a0001c0001t0004g0161 others(2): Show |
5 | 164 | 0.0305 | -10 | c.-34 others(21): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 3085 | chr14 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81224577 | TCTTTTTT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp2 | a0026 | a0026c0072 | a0026c0072t0001 | a0026c0072t0001g0305 | 1 | 384 | 0.0026 | -10 | c.-18 others(21): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 1613 | chr17 | TogoVar | |||||||
CEP135_chr4_55943945_56038361 | 55961101 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02280.hp2 others(5): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0007a0001c0001t0011a0006c0008t0011 | a0001c0001t0007g0004 a0001c0001t0007g0027 a0001c0001t0011g0025 others(3): Show |
8 | 346 | 0.0231 | -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 | 56014250 | CAAACACC others(3): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0280 | 1 | 346 | 0.0029 | -10 | c.280 others(29): Show |
CEP135 | ENSG00000174799.12 | transcript | ENST00000257287.5 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CEP152_chr15_48732938_48816069 | 48796287 | TATACACA others(3): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0014 | a0014c0018 | a0014c0018t0001 | a0014c0018t0001g0232 | 1 | 342 | 0.0029 | -10 | c.541 others(25): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 5/26 | chr15 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84134919 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0006 | a0006c0014 | a0006c0014t0004 | a0006c0014t0004g0115 | 1 | 214 | 0.0047 | -10 | c.387 others(29): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 25/26 | chr6 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84139574 | TGGAACCT others(3): Show |
T | intron_variant | MODIFIER | HG02280.hp2 | a0007 | a0007c0013 | a0007c0013t0002 | a0007c0013t0002g0113 | 1 | 214 | 0.0047 | -10 | c.387 others(29): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 25/26 | chr6 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84159545 | ATATTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 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 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG03704.hp2 HG04204.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 a0001c0001t0001g0120 a0001c0001t0001g0154 |
3 | 214 | 0.0140 | -10 | c.278 others(29): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | |||||||
CEP164_chr11_117322854_117418266 | 117357423 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG02055.hp1 HG02109.hp2 others(15): Show |
a0005a0006a0009others(3): Show | a0005c0007a0006c0006a0009c0020others(4): Show | a0005c0007t0006a0006c0006t0007a0006c0006t0008others(5): Show | a0005c0007t0006g0029 a0005c0007t0006g0030 a0005c0007t0006g0265 others(15): Show |
18 | 390 | 0.0462 | -10 | c.394 others(27): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104872333 | GGTGTGCG others(3): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG02135.hp1 HG02165.hp1 others(24): Show |
a0001a0007a0019others(2): Show | a0001c0001a0001c0005a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0010a0001c0005t0003others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0069 a0001c0001t0001g0070 others(21): Show |
27 | 328 | 0.0823 | -10 | c.105 others(27): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243152521 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(35): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0002a0002c0018others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0006others(4): Show | a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 others(34): Show |
38 | 303 | 0.1254 | -10 | c.391 others(29): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 14/19 | chr1 | TogoVar | |||||||
CEP170_chr1_243119428_243260281 | 243159763 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG01952.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0198 | 1 | 303 | 0.0033 | -10 | c.367 others(29): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 13/19 | chr1 | TogoVar |