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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP104_chr1_3807086_3862211 | 3856967 | C | A | 5_prime_UTR_variant | MODIFIER | NA18974.hp1 NA19005.hp1 NA19086.hp1 |
a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0134a0002c0002t0011g0135a0002c0002t0011g0136 | 3 | 382 | 0.0079 | 0 | c.-93 others(3): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 1/22 | 4560 | chr1 | TogoVar | |||||
CEP104_chr1_3807086_3862211 | 3856982 | A | C | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(105): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0003a0004c0007others(6): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(20): Show | a0001c0001t0003g0009a0001c0001t0003g0025a0001c0001t0003g0026others(91): Show | 108 | 382 | 0.2827 | 0 | c.-10 others(4): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 1/22 | 4575 | chr1 | TogoVar | |||||
CEP104_chr1_3807086_3862211 | 3857024 | C | G | 5_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(140): Show |
a0001a0002a0007others(2): Show | a0001c0006a0002c0002a0002c0005others(4): Show | a0001c0006t0006a0001c0006t0021a0002c0002t0001others(10): Show | a0001c0006t0006g0124a0001c0006t0006g0126a0001c0006t0006g0127others(112): Show | 143 | 382 | 0.3744 | 0 | c.-15 others(4): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 1/22 | 4617 | chr1 | TogoVar | |||||
CEP104_chr1_3807086_3862211 | 3857037 | C | G | 5_prime_UTR_variant | MODIFIER | HG02922.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0031a0001c0001t0013g0032 | 2 | 382 | 0.0052 | 0 | c.-16 others(4): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 1/22 | 4630 | chr1 | TogoVar | |||||
CEP104_chr1_3807086_3862211 | 3857154 | A | G | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(280): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0006a0002c0002others(15): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(39): Show | a0001c0001t0003g0009a0001c0001t0003g0025a0001c0001t0003g0026others(233): Show | 283 | 382 | 0.7408 | 0 | c.-28 others(4): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 1/22 | 4747 | chr1 | TogoVar | |||||
CEP104_chr1_3807086_3862211 | 3857169 | C | A | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(103): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0003a0004c0007others(6): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(19): Show | a0001c0001t0003g0009a0001c0001t0003g0025a0001c0001t0003g0026others(89): Show | 106 | 382 | 0.2775 | 0 | c.-29 others(4): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 1/22 | 4762 | chr1 | TogoVar | |||||
CEP104_chr1_3807086_3862211 | 3857199 | C | G | 5_prime_UTR_variant | MODIFIER | HG02922.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0031a0001c0001t0013g0032 | 2 | 382 | 0.0052 | 0 | c.-32 others(4): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 1/22 | 4792 | chr1 | TogoVar | |||||
CEP112_chr17_65630537_66197133 | 66192008 | A | G | 5_prime_UTR_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0004 | 1 | 112 | 0.0089 | 0 | c.-20 others(3): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 1/27 | 8709 | chr17 | TogoVar | |||||
CEP112_chr17_65630537_66197133 | 66192041 | A | ACGCCGCC others(23): Show |
5_prime_UTR_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0003 | 1 | 112 | 0.0089 | 30 | c.-54 others(37): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 1/27 | 8743 | chr17 | TogoVar | |||||
CEP112_chr17_65630537_66197133 | 66192058 | G | A | 5_prime_UTR_variant | MODIFIER | HG02027.hp2 HG02145.hp1 HG02280.hp1 others(1): Show |
a0001a0002a0004 | a0001c0003a0002c0001a0004c0006 | a0001c0003t0002a0002c0001t0002a0004c0006t0002 | a0001c0003t0002g0109a0001c0003t0002g0112a0002c0001t0002g0111others(1): Show | 4 | 112 | 0.0357 | 0 | c.-70 others(3): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 1/27 | 8759 | chr17 | TogoVar | |||||
CEP112_chr17_65630537_66197133 | 66192079 | A | G | 5_prime_UTR_variant | MODIFIER | NA18522.hp1 | a0005 | a0005c0009 | a0005c0009t0005 | a0005c0009t0005g0002 | 1 | 112 | 0.0089 | 0 | c.-91 others(3): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 1/27 | 8780 | chr17 | TogoVar | |||||
CEP112_chr17_65630537_66197133 | 66192115 | C | T | 5_prime_UTR_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0001 | 1 | 112 | 0.0089 | 0 | c.-12 others(4): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 1/27 | 8816 | chr17 | TogoVar | |||||
CEP120_chr5_123339892_123428403 | 123423058 | C | G | 5_prime_UTR_variant | MODIFIER | HG00438.hp1 | a0002 | a0002c0009 | a0002c0009t0010 | a0002c0009t0010g0031 | 1 | 376 | 0.0027 | 0 | c.-60 others(3): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 1/20 | 60 | chr5 | TogoVar | |||||
CEP120_chr5_123339892_123428403 | 123423311 | C | T | 5_prime_UTR_variant | MODIFIER | HG02559.hp2 HG03486.hp1 NA20129.hp2 |
a0001 | a0001c0006 | a0001c0006t0008a0001c0006t0009 | a0001c0006t0008g0010a0001c0006t0009g0030 | 3 | 376 | 0.0080 | 0 | c.-31 others(4): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 1/20 | 313 | chr5 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101915016 | T | C | 5_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG01243.hp2 others(10): Show |
a0001a0012a0013 | a0001c0001a0012c0015a0013c0018 | a0001c0001t0008a0001c0001t0012a0001c0001t0015others(3): Show | a0001c0001t0008g0003a0001c0001t0008g0030a0001c0001t0008g0031others(9): Show | 13 | 336 | 0.0387 | 0 | c.-26 others(4): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 1/11 | 269 | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101915056 | C | G | 5_prime_UTR_variant | MODIFIER | HG00323.hp1 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0275a0001c0001t0033g0286 | 2 | 336 | 0.0060 | 0 | c.-22 others(4): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 1/11 | 229 | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101915069 | G | T | 5_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02886.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0031a0001c0001t0032a0001c0001t0063others(1): Show | a0001c0001t0031g0139a0001c0001t0031g0141a0001c0001t0032g0140others(3): Show | 6 | 336 | 0.0179 | 0 | c.-21 others(4): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 1/11 | 216 | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101915106 | G | A | 5_prime_UTR_variant | MODIFIER | HG01109.hp1 HG02080.hp1 HG02109.hp1 others(12): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0005c0006 | a0001c0001t0036a0001c0001t0037a0001c0001t0039others(5): Show | a0001c0001t0036g0303a0001c0001t0037g0302a0001c0001t0039g0313others(11): Show | 15 | 336 | 0.0446 | 0 | c.-17 others(4): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 1/11 | 179 | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101915283 | G | A | 5_prime_UTR_variant | MODIFIER | HG00621.hp2 HG01175.hp1 HG01361.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0018 | a0001c0001t0017g0152a0001c0001t0017g0234a0001c0001t0018g0188others(1): Show | 4 | 336 | 0.0119 | 0 | c.-2G others(2): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 1/11 | 2 | chr11 | TogoVar | |||||
CEP131_chr17_81184596_81227965 | 81220067 | G | A | 5_prime_UTR_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0092 | 1 | 384 | 0.0026 | 0 | c.-11 others(3): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 2/26 | 11 | chr17 | TogoVar | |||||
CEP131_chr17_81184596_81227965 | 81222784 | G | A | 5_prime_UTR_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0306 | 1 | 384 | 0.0026 | 0 | c.-33 others(3): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 1/26 | 2728 | chr17 | TogoVar | |||||
CEP131_chr17_81184596_81227965 | 81222785 | C | A | 5_prime_UTR_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01255.hp2 others(26): Show |
a0001a0003a0011others(6): Show | a0001c0058a0003c0008a0003c0014others(9): Show | a0001c0058t0003a0003c0008t0003a0003c0014t0003others(9): Show | a0001c0058t0003g0333a0003c0008t0003g0308a0003c0008t0003g0309others(25): Show | 29 | 384 | 0.0755 | 0 | c.-34 others(3): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 1/26 | 2729 | chr17 | TogoVar | |||||
CEP131_chr17_81184596_81227965 | 81222844 | T | A | 5_prime_UTR_variant | MODIFIER | HG02735.hp2 HG03239.hp1 HG03491.hp2 others(3): Show |
a0010a0043 | a0010c0013a0043c0068 | a0010c0013t0004a0043c0068t0004 | a0010c0013t0004g0335a0010c0013t0004g0336a0010c0013t0004g0337others(3): Show | 6 | 384 | 0.0156 | 0 | c.-93 others(3): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 1/26 | 2788 | chr17 | TogoVar | |||||
CEP131_chr17_81184596_81227965 | 81222862 | C | G | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(119): Show |
a0001a0002a0007others(8): Show | a0001c0003a0001c0004a0001c0051others(13): Show | a0001c0003t0002a0001c0003t0005a0001c0003t0010others(16): Show | a0001c0003t0002g0006a0001c0003t0002g0012a0001c0003t0002g0013others(104): Show | 122 | 384 | 0.3177 | 0 | c.-11 others(4): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 1/26 | 2806 | chr17 | TogoVar | |||||
CEP131_chr17_81184596_81227965 | 81222924 | A | G | 5_prime_UTR_variant | MODIFIER | NA19043.hp2 | a0003 | a0003c0031 | a0003c0031t0007 | a0003c0031t0007g0027 | 1 | 384 | 0.0026 | 0 | c.-17 others(4): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 1/26 | 2868 | chr17 | TogoVar | |||||
CEP135_chr4_55943945_56038361 | 55948964 | G | T | 5_prime_UTR_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0131 | 1 | 346 | 0.0029 | 0 | c.-14 others(4): Show |
CEP135 | ENSG00000174799.12 | transcript | ENST00000257287.5 | protein_coding | 1/26 | 3167 | chr4 | TogoVar | |||||
CEP135_chr4_55943945_56038361 | 55948979 | T | C | 5_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00735.hp1 others(24): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0013a0002c0002others(2): Show | a0001c0001t0005a0001c0001t0016a0001c0013t0005others(3): Show | a0001c0001t0005g0017a0001c0001t0005g0024a0001c0001t0005g0126others(23): Show | 27 | 346 | 0.0780 | 0 | c.-12 others(4): Show |
CEP135 | ENSG00000174799.12 | transcript | ENST00000257287.5 | protein_coding | 1/26 | 3152 | chr4 | TogoVar | |||||
CEP152_chr15_48732938_48816069 | 48810978 | G | T | 5_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG01106.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0234a0001c0001t0003g0235a0001c0001t0003g0236others(6): Show | 9 | 342 | 0.0263 | 0 | c.-25 others(3): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 1/27 | 5329 | chr15 | TogoVar | |||||
CEP152_chr15_48732938_48816069 | 48810979 | T | A | 5_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG01106.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0234a0001c0001t0003g0235a0001c0001t0003g0236others(6): Show | 9 | 342 | 0.0263 | 0 | c.-26 others(3): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 1/27 | 5330 | chr15 | TogoVar | |||||
CEP152_chr15_48732938_48816069 | 48811047 | T | C | 5_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(88): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0036a0002c0002others(6): Show | a0001c0001t0002a0001c0036t0002a0002c0002t0002others(7): Show | a0001c0001t0002g0244a0001c0001t0002g0245a0001c0001t0002g0246others(84): Show | 91 | 342 | 0.2661 | 0 | c.-94 others(3): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 1/27 | 5398 | chr15 | TogoVar | |||||
CEP162_chr6_84119250_84232643 | 84226406 | T | C | 5_prime_UTR_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02717.hp1 others(4): Show |
a0001a0002 | a0001c0004a0001c0005a0001c0008others(1): Show | a0001c0004t0007a0001c0005t0005a0001c0008t0005others(1): Show | a0001c0004t0007g0207a0001c0005t0005g0208a0001c0008t0005g0203others(4): Show | 7 | 214 | 0.0327 | 0 | c.-13 others(3): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 2/27 | 13 | chr6 | TogoVar | |||||
CEP162_chr6_84119250_84232643 | 84226444 | T | C | 5_prime_UTR_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0111 | 1 | 214 | 0.0047 | 0 | c.-51 others(3): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 2/27 | 51 | chr6 | TogoVar | |||||
CEP170B_chr14_104860268_104901747 | 104865272 | G | A | 5_prime_UTR_variant | MODIFIER | NA19058.hp2 | a0017 | a0017c0033 | a0017c0033t0009 | a0017c0033t0009g0023 | 1 | 328 | 0.0031 | 0 | c.-26 others(4): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 1/19 | 3179 | chr14 | TogoVar | |||||
CEP170B_chr14_104860268_104901747 | 104865275 | A | G | 5_prime_UTR_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0132 | 1 | 328 | 0.0031 | 0 | c.-26 others(4): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 1/19 | 3176 | chr14 | TogoVar | |||||
CEP170B_chr14_104860268_104901747 | 104865316 | G | A | 5_prime_UTR_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0093 | 1 | 328 | 0.0031 | 0 | c.-22 others(4): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 1/19 | 3135 | chr14 | TogoVar | |||||
CEP170B_chr14_104860268_104901747 | 104865391 | C | CCGGG | 5_prime_UTR_variant | MODIFIER | HG01167.hp2 HG01255.hp1 HG02055.hp1 others(22): Show |
a0001a0011 | a0001c0001a0001c0005a0001c0008others(3): Show | a0001c0001t0026a0001c0005t0003a0001c0008t0003others(3): Show | a0001c0001t0026g0264a0001c0005t0003g0014a0001c0005t0003g0032others(18): Show | 25 | 328 | 0.0762 | 4 | c.-13 others(13): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 1/19 | 3041 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||
CEP170B_chr14_104860268_104901747 | 104865498 | C | A | 5_prime_UTR_variant | MODIFIER | HG02723.hp1 | a0030 | a0030c0040 | a0030c0040t0011 | a0030c0040t0011g0273 | 1 | 328 | 0.0031 | 0 | c.-43 others(3): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 1/19 | 2953 | chr14 | TogoVar | |||||
CEP170_chr1_243119428_243260281 | 243255136 | G | C | 5_prime_UTR_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0295 | 1 | 303 | 0.0033 | 0 | c.-13 others(4): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 1/20 | 29856 | chr1 | TogoVar | |||||
CEP170_chr1_243119428_243260281 | 243255213 | C | A | 5_prime_UTR_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0004 | a0002c0004t0012 | a0002c0004t0012g0296 | 1 | 303 | 0.0033 | 0 | c.-21 others(4): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 1/20 | 29933 | chr1 | TogoVar | |||||
CEP192_chr18_12986362_13130036 | 12991377 | C | T | 5_prime_UTR_variant | MODIFIER | NA18968.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0100 | 1 | 392 | 0.0026 | 0 | c.-65 others(3): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 1/45 | 8048 | chr18 | TogoVar | |||||
CEP192_chr18_12986362_13130036 | 12991394 | T | C | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(287): Show |
a0000a0001a0002others(25): Show | a0000c0035a0001c0002a0001c0033others(33): Show | a0000c0035t0001a0001c0002t0001a0001c0033t0001others(34): Show | a0000c0035t0001g0264a0001c0002t0001g0016a0001c0002t0001g0017others(265): Show | 290 | 392 | 0.7398 | 0 | c.-48 others(3): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 1/45 | 8031 | chr18 | TogoVar | |||||
CEP19_chr3_196701277_196717250 | 196708663 | T | C | 5_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(181): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0016others(35): Show | 184 | 432 | 0.4259 | 0 | c.-6A others(2): Show |
CEP19 | ENSG00000174007.9 | transcript | ENST00000409690.5 | protein_coding | 2/3 | 6 | chr3 | TogoVar | |||||
CEP19_chr3_196701277_196717250 | 196708668 | A | G | 5_prime_UTR_variant | MODIFIER | NA19063.hp1 NA19078.hp2 |
a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0030 | 2 | 432 | 0.0046 | 0 | c.-11 others(3): Show |
CEP19 | ENSG00000174007.9 | transcript | ENST00000409690.5 | protein_coding | 2/3 | 11 | chr3 | TogoVar | |||||
CEP19_chr3_196701277_196717250 | 196708673 | C | CGGGTAAG others(22): Show |
5_prime_UTR_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0056 | 1 | 432 | 0.0023 | 29 | c.-45 others(36): Show |
CEP19 | ENSG00000174007.9 | transcript | ENST00000409690.5 | protein_coding | 2/3 | 17 | chr3 | TogoVar | |||||
CEP19_chr3_196701277_196717250 | 196708709 | G | T | 5_prime_UTR_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02647.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0019a0001c0001t0020 | a0001c0001t0009g0019a0001c0001t0009g0074a0001c0001t0019g0073others(1): Show | 7 | 432 | 0.0162 | 0 | c.-52 others(3): Show |
CEP19 | ENSG00000174007.9 | transcript | ENST00000409690.5 | protein_coding | 2/3 | 52 | chr3 | TogoVar | |||||
CEP19_chr3_196701277_196717250 | 196711955 | G | T | 5_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(131): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0016others(23): Show | 134 | 432 | 0.3102 | 0 | c.-97 others(3): Show |
CEP19 | ENSG00000174007.9 | transcript | ENST00000409690.5 | protein_coding | 1/3 | 3298 | chr3 | TogoVar | |||||
CEP19_chr3_196701277_196717250 | 196712023 | C | T | 5_prime_UTR_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0038 | 1 | 432 | 0.0023 | 0 | c.-16 others(4): Show |
CEP19 | ENSG00000174007.9 | transcript | ENST00000409690.5 | protein_coding | 1/3 | 3366 | chr3 | TogoVar | |||||
CEP290_chr12_88044016_88147088 | 88141968 | G | A | 5_prime_UTR_variant | MODIFIER | HG03579.hp2 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0216 | 1 | 234 | 0.0043 | 0 | c.-96 others(3): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 1/54 | 661 | chr12 | TogoVar | |||||
CEP290_chr12_88044016_88147088 | 88142008 | G | T | 5_prime_UTR_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0014 | 1 | 234 | 0.0043 | 0 | c.-13 others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 1/54 | 701 | chr12 | TogoVar | |||||
CEP295NL_chr17_78885579_78908201 | 78901831 | C | T | 5_prime_UTR_variant | MODIFIER | HG03098.hp2 HG03453.hp1 NA21309.hp1 |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0008 | a0001c0001t0003a0002c0002t0003a0008c0008t0003 | a0001c0001t0003g0136a0002c0002t0003g0137a0008c0008t0003g0135 | 3 | 430 | 0.0070 | 0 | c.-3G others(2): Show |
CEP295NL | ENSG00000178404.11 | transcript | ENST00000322630.3 | protein_coding | 2/3 | 3 | chr17 | TogoVar |