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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP112_chr17_65630537_66197133 | 66036378 | TAAAAAG | T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00642.hp1 others(48): Show |
a0002a0006 | a0002c0001a0002c0004a0002c0007others(2): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0003others(6): Show | a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0001t0001g0015 others(48): Show |
51 | 112 | 0.4554 | -6 | c.121 others(25): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 12/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66057758 | TACACAC | T | intron_variant | MODIFIER | HG00741.hp1 HG01346.hp2 HG02055.hp1 others(14): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(2): Show | a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0059 others(14): Show |
17 | 112 | 0.1518 | -6 | c.107 others(25): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 11/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66067016 | AACACAC | A | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00741.hp2 others(40): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0003a0002c0001others(4): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(7): Show | a0001c0002t0001g0014 a0001c0002t0001g0090 a0001c0003t0001g0006 others(40): Show |
43 | 112 | 0.3839 | -6 | c.856 others(21): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 9/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66099504 | CAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00735.hp2 others(16): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001a0002c0001t0008 | a0001c0002t0001g0090 a0002c0001t0001g0031 a0002c0001t0001g0032 others(16): Show |
19 | 112 | 0.1696 | -6 | c.643 others(23): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 6/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66135838 | TATATAG | T | intron_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG01123.hp2 others(11): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0004 | a0001c0002t0001a0002c0001t0001a0002c0004t0001 | a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 others(11): Show |
14 | 112 | 0.1250 | -6 | c.471 others(23): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 4/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66164881 | CATATAT | C | intron_variant | MODIFIER | HG01346.hp2 HG01891.hp2 HG02257.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0007 |
3 | 112 | 0.0268 | -6 | c.470 others(25): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 4/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66164886 | ATGTGTG | A | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 NA18522.hp1 |
a0001a0002a0006 | a0001c0002a0002c0001a0006c0009 | a0001c0002t0001a0002c0001t0001a0006c0009t0005 | a0001c0002t0001g0061 a0002c0001t0001g0065 a0006c0009t0005g0002 |
3 | 112 | 0.0268 | -6 | c.470 others(25): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 4/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66174646 | ATTTAAG | A | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG00741.hp2 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0036 a0002c0001t0001g0037 a0002c0001t0001g0038 others(1): Show |
4 | 112 | 0.0357 | -6 | c.470 others(21): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 4/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66188280 | CACACAA | C | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG02622.hp2 others(2): Show |
a0001a0002a0003 | a0001c0002a0002c0001a0003c0006 | a0001c0002t0001a0002c0001t0001a0002c0001t0003others(1): Show | a0001c0002t0001g0021 a0002c0001t0001g0083 a0002c0001t0001g0097 others(2): Show |
5 | 112 | 0.0446 | -6 | c.-9+ others(21): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 1/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66188286 | AACACAC | A | intron_variant | MODIFIER | HG04199.hp2 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 a0001c0002t0001g0081 |
2 | 112 | 0.0179 | -6 | c.-9+ others(21): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 1/26 | chr17 | TogoVar | |||||||
CEP120_chr5_123339892_123428403 | 123378440 | TAAAAAA | T | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00639.hp1 others(40): Show |
a0001a0002a0003others(1): Show | a0001c0006a0002c0002a0002c0009others(2): Show | a0001c0006t0001a0002c0002t0001a0002c0002t0014others(4): Show | a0001c0006t0001g0103 a0002c0002t0001g0005 a0002c0002t0001g0016 others(35): Show |
43 | 376 | 0.1144 | -6 | c.210 others(21): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 14/19 | chr5 | TogoVar | |||||||
CEP120_chr5_123339892_123428403 | 123391602 | CTTCTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(164): Show |
a0001a0002a0003others(2): Show | a0001c0006a0002c0002a0002c0008others(5): Show | a0001c0006t0008a0001c0006t0009a0002c0002t0001others(10): Show | a0001c0006t0008g0010 a0001c0006t0009g0030 a0002c0002t0001g0005 others(146): Show |
167 | 376 | 0.4442 | -6 | c.811 others(21): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 6/19 | chr5 | TogoVar | |||||||
CEP120_chr5_123339892_123428403 | 123414971 | CAAAAAA | C | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02071.hp1 others(13): Show |
a0001a0002a0003 | a0001c0006a0002c0002a0003c0003 | a0001c0006t0002a0001c0006t0008a0002c0002t0001others(1): Show | a0001c0006t0002g0204 a0001c0006t0002g0205 a0001c0006t0008g0010 others(12): Show |
16 | 376 | 0.0426 | -6 | c.321 others(23): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 3/19 | chr5 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101917028 | ATGTGTG | A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(67): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 others(67): Show |
70 | 336 | 0.2083 | -6 | c.128 others(23): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101936423 | AGAACTT | A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(44): Show |
a0001a0002a0008others(3): Show | a0001c0001a0002c0003a0008c0007others(3): Show | a0001c0001t0012a0002c0003t0003a0002c0003t0007others(6): Show | a0001c0001t0012g0309 a0001c0001t0012g0310 a0001c0001t0012g0311 others(44): Show |
47 | 336 | 0.1399 | -6 | c.249 others(23): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 102001558 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00673.hp1 others(43): Show |
a0001a0002a0008others(3): Show | a0001c0001a0002c0003a0008c0007others(3): Show | a0001c0001t0012a0002c0003t0003a0002c0003t0007others(7): Show | a0001c0001t0012g0309 a0001c0001t0012g0310 a0001c0001t0012g0311 others(43): Show |
46 | 336 | 0.1369 | -6 | c.*39 others(17): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 497 | chr11 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 102004895 | CATATAT | C | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG02280.hp2 others(5): Show |
a0001a0004a0006 | a0001c0001a0004c0006a0006c0014 | a0001c0001t0006a0001c0001t0008a0001c0001t0034others(3): Show | a0001c0001t0006g0061 a0001c0001t0006g0120 a0001c0001t0008g0036 others(5): Show |
8 | 336 | 0.0238 | -6 | c.*72 others(17): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3834 | chr11 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80573561 | GATTAAT | G | intron_variant | MODIFIER | NA18942.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0122 |
2 | 164 | 0.0122 | -6 | c.285 others(25): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 20/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80585906 | CAGATAA | C | intron_variant | MODIFIER | HG01123.hp2 HG01192.hp1 HG02615.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(2): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(6): Show |
9 | 164 | 0.0549 | -6 | c.280 others(25): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80647011 | ATGTGTG | A | intron_variant | MODIFIER | HG02523.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 a0001c0001t0005g0036 |
2 | 164 | 0.0122 | -6 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80647033 | GCATGTA | G | intron_variant | MODIFIER | HG02040.hp2 HG02257.hp2 HG02523.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0060 others(10): Show |
13 | 164 | 0.0793 | -6 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80647037 | GTATATA | G | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG02040.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0002a0001c0008t0005a0002c0002t0003others(2): Show | a0001c0001t0002g0122 a0001c0008t0005g0018 a0002c0002t0003g0091 others(4): Show |
7 | 164 | 0.0427 | -6 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80647120 | CACACAT | C | intron_variant | MODIFIER | HG00642.hp2 HG02165.hp1 NA21309.hp1 |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0002a0003c0003t0002a0004c0004t0003 | a0001c0001t0002g0124 a0003c0003t0002g0120 a0004c0004t0003g0086 |
3 | 164 | 0.0183 | -6 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80656275 | TTATTTA | T | intron_variant | MODIFIER | HG02080.hp1 HG02280.hp2 NA18947.hp1 |
a0001a0002 | a0001c0012a0002c0002 | a0001c0012t0001a0002c0002t0004 | a0001c0012t0001g0049 a0002c0002t0004g0073 a0002c0002t0004g0093 |
3 | 164 | 0.0183 | -6 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80656291 | TTATATA | T | intron_variant | MODIFIER | HG02165.hp1 HG02922.hp1 HG03669.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0003 | a0001c0001t0002g0124 a0001c0001t0004g0160 a0002c0002t0003g0079 |
3 | 164 | 0.0183 | -6 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80711295 | TTGTGTG | T | intron_variant | MODIFIER | HG02602.hp2 HG02976.hp2 HG03130.hp2 others(7): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0004a0001c0014t0003a0002c0002t0003others(3): Show | a0001c0001t0004g0137 a0001c0014t0003g0151 a0002c0002t0003g0141 others(7): Show |
10 | 164 | 0.0610 | -6 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80732471 | GGTGTGT | G | intron_variant | MODIFIER | HG02132.hp2 HG02523.hp2 HG02615.hp1 others(1): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0005a0002c0002t0004a0003c0003t0002others(1): Show | a0001c0001t0005g0036 a0002c0002t0004g0146 a0003c0003t0002g0127 others(1): Show |
4 | 164 | 0.0244 | -6 | c.280 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80733339 | CGTGTGT | C | intron_variant | MODIFIER | HG00735.hp1 HG02083.hp2 HG02145.hp2 others(7): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0002g0157 others(7): Show |
10 | 164 | 0.0610 | -6 | c.280 others(25): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80741124 | TAAAAAA | T | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp1 HG01175.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0112 others(8): Show |
11 | 164 | 0.0671 | -6 | c.280 others(25): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80811677 | ATGTGTG | A | intron_variant | MODIFIER | HG02109.hp2 HG02647.hp2 HG02809.hp2 others(7): Show |
a0001a0008a0010 | a0001c0001a0001c0009a0008c0011others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0009t0006others(2): Show | a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 others(7): Show |
10 | 164 | 0.0610 | -6 | c.121 others(27): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80821600 | TACACAC | T | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02572.hp1 others(3): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0004a0001c0001t0005a0002c0002t0004others(1): Show | a0001c0001t0004g0094 a0001c0001t0004g0159 a0001c0001t0005g0058 others(3): Show |
6 | 164 | 0.0366 | -6 | c.120 others(25): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80821638 | CACACAT | C | intron_variant | MODIFIER | HG02109.hp1 HG03540.hp2 |
a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0017 a0001c0008t0005g0018 |
2 | 164 | 0.0122 | -6 | c.120 others(25): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80880865 | AAATAAT | A | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG01123.hp2 others(55): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0014a0002c0002others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0003g0149 others(55): Show |
58 | 164 | 0.3537 | -6 | c.645 others(25): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 8/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80909111 | AAGACTT | A | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG00741.hp1 others(70): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0009a0001c0014others(10): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0003g0149 others(70): Show |
73 | 164 | 0.4451 | -6 | c.235 others(23): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 4/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80944822 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG01123.hp1 HG01123.hp2 HG01891.hp2 others(16): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0002g0132 others(16): Show |
19 | 164 | 0.1159 | -6 | c.-34 others(17): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 3085 | chr14 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81197508 | ACCCGTG | A | intron_variant | MODIFIER | HG02258.hp2 HG02723.hp1 HG02970.hp1 |
a0015 | a0015c0022 | a0015c0022t0001 | a0015c0022t0001g0130 a0015c0022t0001g0131 a0015c0022t0001g0132 |
3 | 384 | 0.0078 | -6 | c.164 others(23): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 13/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81218001 | TTCTCCC | T | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp1 HG02970.hp2 |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0002a0002c0002t0002 | a0001c0004t0002g0049 a0002c0002t0002g0048 a0002c0002t0002g0050 |
3 | 384 | 0.0078 | -6 | c.177 others(23): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 2/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81222296 | GCTGACC | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(183): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0004a0001c0012others(37): Show | a0001c0001t0001a0001c0004t0001a0001c0012t0001others(37): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(160): Show |
186 | 384 | 0.4844 | -6 | c.-18 others(21): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 1/25 | chr17 | TogoVar | |||||||
CEP135_chr4_55943945_56038361 | 55947043 | CAAAACA | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(190): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0015others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0216 a0001c0001t0001g0296 a0001c0001t0002g0005 others(170): Show |
193 | 346 | 0.5578 | -6 | c.-20 others(17): Show |
CEP135 | ENSG00000174799.12 | transcript | ENST00000257287.5 | protein_coding | 1901 | chr4 | TogoVar | |||||||
CEP152_chr15_48732938_48816069 | 48777466 | TTGTGTG | T | intron_variant | MODIFIER | HG01884.hp1 HG02074.hp2 HG02559.hp1 others(1): Show |
a0001a0003a0014others(1): Show | a0001c0001a0003c0003a0014c0018others(1): Show | a0001c0001t0001a0003c0003t0002a0014c0018t0001others(1): Show | a0001c0001t0001g0078 a0003c0003t0002g0295 a0014c0018t0001g0232 others(1): Show |
4 | 342 | 0.0117 | -6 | c.157 others(25): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 12/26 | chr15 | TogoVar | |||||||
CEP152_chr15_48732938_48816069 | 48796289 | TACACAC | T | intron_variant | MODIFIER | HG01123.hp1 HG02735.hp1 HG04204.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0036 a0001c0001t0001g0082 a0002c0002t0002g0250 others(1): Show |
4 | 342 | 0.0117 | -6 | c.541 others(21): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 5/26 | chr15 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84134919 | TACACAC | T | intron_variant | MODIFIER | HG02257.hp2 HG02273.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0004t0002a0001c0007t0002 | a0001c0001t0001g0022 a0001c0001t0001g0139 a0001c0004t0002g0012 others(5): Show |
8 | 214 | 0.0374 | -6 | c.387 others(25): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 25/26 | chr6 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84156743 | GACACAC | G | intron_variant | MODIFIER | HG02922.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 a0001c0001t0002g0038 |
2 | 214 | 0.0094 | -6 | c.278 others(25): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | |||||||
CEP164_chr11_117322854_117418266 | 117353997 | TCTTCTC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(78): Show |
a0003a0005a0006others(7): Show | a0003c0003a0003c0022a0005c0007others(9): Show | a0003c0003t0002a0003c0003t0004a0003c0003t0005others(14): Show | a0003c0003t0002g0128 a0003c0003t0004g0006 a0003c0003t0004g0034 others(76): Show |
81 | 390 | 0.2077 | -6 | c.393 others(23): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104886547 | CGCAGGA | C | conservative_inframe_deletion | MODERATE | HG00408.hp2 HG00544.hp1 HG01071.hp1 others(33): Show |
a0002a0006a0015 | a0002c0004a0002c0009a0002c0012others(6): Show | a0002c0004t0002a0002c0009t0002a0002c0009t0012others(7): Show | a0002c0004t0002g0007 a0002c0004t0002g0028 a0002c0004t0002g0030 others(24): Show |
36 | 328 | 0.1098 | -6 | c.231 others(15): Show |
p.Arg others(13): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 12/19 | 2584/6727 | 2311/4665 | 771/1554 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
CEP170_chr1_243119428_243260281 | 243174782 | GTTAAGT | G | intron_variant | MODIFIER | HG01981.hp1 HG02615.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 others(3): Show |
6 | 303 | 0.0198 | -6 | c.156 others(25): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 10/19 | chr1 | TogoVar | |||||||
CEP170_chr1_243119428_243260281 | 243231187 | CATCATT | C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG01071.hp2 others(20): Show |
a0001 | a0001c0001a0001c0010a0001c0023 | a0001c0001t0001a0001c0001t0002a0001c0010t0002others(1): Show | a0001c0001t0001g0162 a0001c0001t0001g0203 a0001c0001t0001g0264 others(20): Show |
23 | 303 | 0.0759 | -6 | c.-41 others(23): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
CEP192_chr18_12986362_13130036 | 13000091 | CTTTTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG01981.hp2 HG03704.hp1 others(3): Show |
a0004a0022a0031 | a0004c0004a0022c0021a0031c0030 | a0004c0004t0001a0022c0021t0001a0031c0030t0001 | a0004c0004t0001g0174 a0004c0004t0001g0175 a0004c0004t0001g0206 others(3): Show |
6 | 392 | 0.0153 | -6 | c.164 others(21): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 2/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CEP192_chr18_12986362_13130036 | 13099175 | AGGGAGG | A | intron_variant | MODIFIER | HG02572.hp1 HG02895.hp1 HG02897.hp2 |
a0001a0019 | a0001c0044a0019c0015 | a0001c0044t0001a0019c0015t0002 | a0001c0044t0001g0269 a0019c0015t0002g0040 a0019c0015t0002g0041 |
3 | 392 | 0.0077 | -6 | c.655 others(23): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 36/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CEP192_chr18_12986362_13130036 | 13122832 | CGTGTGT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(161): Show |
a0001a0002a0004others(9): Show | a0001c0002a0001c0033a0001c0036others(13): Show | a0001c0002t0001a0001c0002t0005a0001c0033t0001others(15): Show | a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 others(146): Show |
164 | 392 | 0.4184 | -6 | c.747 others(25): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |