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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CECR2_chr22_17364460_17563151 | 17525285 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0166 | 1 | 157 | 0.0064 | 19 | c.110 others(38): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | chr22 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17552774 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02818.hp1 NA18969.hp1 NA19000.hp2 |
a0003a0016 | a0003c0003a0016c0011 | a0003c0003t0001a0003c0003t0006a0016c0011t0006 | a0003c0003t0001g0214 a0003c0003t0006g0183 a0016c0011t0006g0143 |
3 | 121 | 0.0248 | 19 | c.439 others(34): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CELA3B_chr1_21972022_21994354 | 21986599 | C | CTTTGTTT others(12): Show |
frameshift_variant | HIGH | HG02976.hp1 | a0015 | a0015c0020 | a0015c0020t0001 | a0015c0020t0001g0165 | 1 | 442 | 0.0023 | 19 | c.725 others(26): Show |
p.Gly others(5): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 7/8 | 744/906 | 726/813 | 242/270 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
CELF1_chr11_47460937_47558132 | 47489935 | G | GGTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 | 1 | 68 | 0.0147 | 19 | c.72- others(32): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 3/14 | chr11 | TogoVar | |||||||
CELF1_chr11_47460937_47558132 | 47489935 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0120 a0001c0001t0001g0135 a0001c0001t0002g0110 others(12): Show |
15 | 82 | 0.1829 | 19 | c.72- others(32): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 3/14 | chr11 | TogoVar | |||||||
CELF2_chr10_11012872_11341675 | 11086578 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0047 | 1 | 24 | 0.0417 | 19 | c.74+ others(36): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11103487 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02451.hp2 HG02559.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0008a0001c0001t0010a0001c0001t0021others(5): Show | a0001c0001t0008g0081 a0001c0001t0010g0015 a0001c0001t0021g0017 others(5): Show |
8 | 43 | 0.1860 | 19 | c.75- others(36): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11262940 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 3 | 0.3333 | 19 | c.539 others(36): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37353233 | A | AAATATAT others(12): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 56 | 0.0179 | 19 | c.370 others(38): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
CELF4_chr18_37238040_37570798 | 37547160 | G | GTGTGTGT others(12): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0183 | 1 | 11 | 0.0909 | 19 | c.286 others(38): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
CELF5_chr19_3219661_3302076 | 3242303 | G | GCGGGCAG others(12): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 260 | 0.0038 | 19 | c.260 others(36): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3256064 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 166 | 0.0060 | 19 | c.342 others(36): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3256064 | C | CAGAAAAA others(12): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01175.hp2 HG01256.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0006 a0001c0001t0001g0086 a0001c0001t0001g0100 others(27): Show |
30 | 195 | 0.1538 | 19 | c.342 others(36): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CELF6_chr15_72279727_72325157 | 72314589 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 | 1 | 194 | 0.0052 | 19 | c.345 others(36): Show |
CELF6 | ENSG00000140488.16 | transcript | ENST00000287202.10 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46365770 | G | GCCCCTAC others(12): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0021 | a0021c0036 | a0021c0036t0006 | a0021c0036t0006g0002 | 1 | 102 | 0.0098 | 19 | c.830 others(35): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46467126 | A | AATAAATT others(12): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0035 | a0035c0046 | a0035c0046t0001 | a0035c0046t0001g0035 | 1 | 102 | 0.0098 | 19 | c.354 others(38): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71725018 | T | TGTTGCAC others(12): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0005 | a0005c0004 | a0005c0004t0011 | a0005c0004t0011g0006 | 1 | 318 | 0.0031 | 19 | c.217 others(36): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 11/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71725037 | C | CGTTGCAC others(12): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01167.hp1 HG01169.hp2 others(18): Show |
a0005a0008 | a0005c0004a0008c0011 | a0005c0004t0001a0005c0004t0008a0005c0004t0011others(7): Show | a0005c0004t0001g0231 a0005c0004t0008g0128 a0005c0004t0011g0005 others(18): Show |
21 | 318 | 0.0660 | 19 | c.217 others(36): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 11/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71732686 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0013 | a0001c0013t0006 | a0001c0013t0006g0031 | 1 | 21 | 0.0476 | 19 | c.139 others(36): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 6/23 | chr9 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80839289 | A | ATGTGTGT others(12): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03471.hp1 |
a0001a0011 | a0001c0001a0011c0032 | a0001c0001t0001a0011c0032t0004 | a0001c0001t0001g0112 a0011c0032t0004g0075 |
2 | 10 | 0.2000 | 19 | c.-17 others(40): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | chr15 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80900585 | G | GTGTGTGT others(12): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 133 | 0.0075 | 19 | c.141 others(38): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 12/29 | chr15 | TogoVar | |||||||
CEMP1_chr16_2525035_2536408 | 2533430 | A | ATTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0000 a0001c0001t0008g0000 |
26 | 38 | 0.6842 | 19 | c.-23 others(30): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 2023 | chr16 | TogoVar | |||||||
CEMP1_chr16_2525035_2536408 | 2533460 | T | TTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 343 | 0.0029 | 19 | c.-23 others(30): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 2053 | chr16 | TogoVar | |||||||
CENPA_chr2_26781056_26799589 | 26784448 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG02135.hp2 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 |
4 | 113 | 0.0354 | 19 | c.-17 others(30): Show |
CENPA | ENSG00000115163.15 | transcript | ENST00000335756.9 | protein_coding | 1607 | chr2 | TogoVar | |||||||
CENPH_chr5_69184583_69215357 | 69200719 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG04184.hp1 NA18985.hp2 NA19058.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0208 others(1): Show |
4 | 26 | 0.1538 | 19 | c.372 others(36): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CENPK_chr5_65512766_65568168 | 65514228 | A | ATATTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0279 | 1 | 340 | 0.0029 | 19 | c.*42 others(30): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 3537 | chr5 | TogoVar | |||||||
CENPO_chr2_24788425_24827376 | 24817466 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01346.hp1 HG02572.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0001c0001t0023a0001c0001t0039others(1): Show | a0001c0001t0009g0260 a0001c0001t0023g0220 a0001c0001t0039g0221 others(3): Show |
6 | 60 | 0.1000 | 19 | c.767 others(34): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92532015 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18957.hp2 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0140 a0001c0001t0003g0168 |
2 | 140 | 0.0143 | 19 | c.565 others(38): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92533328 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 97 | 0.0103 | 19 | c.565 others(38): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92533328 | A | AAAAATAT others(12): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 97 | 0.0103 | 19 | c.565 others(38): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92535136 | T | TAGATACT others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG00639.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 others(50): Show |
53 | 260 | 0.2038 | 19 | c.565 others(38): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | chr9 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65654056 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03139.hp1 HG06807.hp2 |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0001 | a0001c0002t0001g0035 a0001c0003t0001g0082 a0002c0001t0001g0031 |
3 | 89 | 0.0337 | 19 | c.269 others(40): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | |||||||
CEP120_chr5_123339892_123428403 | 123360653 | G | GCAAGAGG others(12): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(159): Show |
a0001a0002a0003others(1): Show | a0001c0006a0002c0002a0002c0009others(4): Show | a0001c0006t0001a0001c0006t0008a0001c0006t0009others(10): Show | a0001c0006t0001g0102 a0001c0006t0008g0010 a0001c0006t0009g0030 others(141): Show |
162 | 374 | 0.4332 | 19 | c.258 others(38): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 18/19 | chr5 | TogoVar | |||||||
CEP120_chr5_123339892_123428403 | 123414971 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0008 | a0008c0017 | a0008c0017t0002 | a0008c0017t0002g0209 | 1 | 54 | 0.0185 | 19 | c.321 others(36): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 3/19 | chr5 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101938159 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 149 | 0.0067 | 19 | c.249 others(36): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81196373 | C | CCTGGAGG others(12): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0214 | 1 | 382 | 0.0026 | 19 | c.189 others(36): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 15/25 | chr17 | TogoVar | |||||||
CEP152_chr15_48732938_48816069 | 48765636 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 92 | 0.0109 | 19 | c.228 others(38): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 17/26 | chr15 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84159548 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0094 | 1 | 177 | 0.0056 | 19 | c.278 others(38): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | |||||||
CEP170_chr1_243119428_243260281 | 243159763 | T | TGTGTGTG others(12): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 79 | 0.0127 | 19 | c.367 others(38): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 13/19 | chr1 | TogoVar | |||||||
CEP250_chr20_35450598_35524280 | 35451050 | A | ATATATAT others(12): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG02165.hp1 HG03098.hp1 others(1): Show |
a0001a0009 | a0001c0001a0001c0022a0009c0023 | a0001c0001t0001a0001c0022t0056a0009c0023t0027 | a0001c0001t0001g0176 a0001c0001t0001g0191 a0001c0022t0056g0222 others(1): Show |
4 | 208 | 0.0192 | 19 | c.-49 others(30): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 4547 | chr20 | TogoVar | |||||||
CEP63_chr3_134481057_134570031 | 134547614 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00741.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0287 a0001c0001t0001g0305 a0001c0001t0001g0306 others(6): Show |
9 | 15 | 0.6000 | 19 | c.106 others(36): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650982 | C | CTGTGAGG others(12): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(11): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0001a0005c0007t0001 | a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0070 others(11): Show |
14 | 36 | 0.3889 | 19 | c.177 others(38): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12679388 | G | GAGGCAGG others(12): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 378 | 0.0026 | 19 | c.129 others(36): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 9/11 | chr18 | TogoVar | |||||||
CEP76_chr18_12667625_12707723 | 12679413 | G | GGAAGCAC others(12): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0178 | 1 | 377 | 0.0027 | 19 | c.129 others(36): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 9/11 | chr18 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94338120 | G | GGTCCAAG others(12): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 362 | 0.0028 | 19 | c.134 others(38): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 11/16 | chr12 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118542900 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01884.hp1 NA18941.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0216 a0002c0002t0002g0242 |
2 | 58 | 0.0345 | 19 | c.102 others(40): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGG others(12): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0215 | 1 | 117 | 0.0085 | 19 | c.232 others(38): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGG others(12): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0035 | 1 | 117 | 0.0085 | 19 | c.232 others(38): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGG others(12): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0191 | 1 | 117 | 0.0085 | 19 | c.232 others(38): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGG others(12): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0012 | 1 | 117 | 0.0085 | 19 | c.232 others(38): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar |