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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CELF2_chr10_11012872_11341675 | 11107910 | C | CTTCTCCC others(10): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0068 | 1 | 166 | 0.0060 | 17 | c.75- others(34): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11108050 | A | ACCTCTCC others(10): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00544.hp1 others(62): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0031 a0001c0001t0001g0085 a0001c0001t0001g0086 others(62): Show |
65 | 184 | 0.3533 | 17 | c.75- others(34): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11229363 | T | TCTTCCTG others(10): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02280.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(10): Show | a0001c0001t0001g0010 a0001c0001t0003g0171 a0001c0001t0016g0041 others(11): Show |
14 | 192 | 0.0729 | 17 | c.354 others(36): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11262940 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0007 | a0002c0007t0037 | a0002c0007t0037g0164 | 1 | 3 | 0.3333 | 17 | c.539 others(34): 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(10): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03927.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001 | a0001c0001t0005g0140 a0001c0002t0001g0054 |
2 | 57 | 0.0351 | 17 | c.370 others(36): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
CELF4_chr18_37238040_37570798 | 37543874 | G | GCAGGGAG others(10): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0162 | 1 | 182 | 0.0055 | 17 | c.286 others(36): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
CELF5_chr19_3219661_3302076 | 3226475 | C | CACACACA others(10): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 260 | 0.0038 | 17 | c.259 others(34): 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(10): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 166 | 0.0060 | 17 | c.342 others(34): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3299553 | C | CTTCTTCT others(10): Show |
downstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0074 | 1 | 227 | 0.0044 | 17 | c.*28 others(28): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2478 | chr19 | TogoVar | |||||||
CELF5_chr19_3219661_3302076 | 3299556 | C | CTTCTTCT others(10): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0164 | 1 | 257 | 0.0039 | 17 | c.*28 others(28): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2481 | chr19 | TogoVar | |||||||
CELF5_chr19_3219661_3302076 | 3299578 | T | TTCTTCTT others(10): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 243 | 0.0041 | 17 | c.*28 others(28): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2503 | chr19 | TogoVar | |||||||
CELF6_chr15_72279727_72325157 | 72314589 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01952.hp2 HG01993.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0018 a0001c0001t0003g0195 a0001c0001t0005g0160 |
5 | 198 | 0.0253 | 17 | c.345 others(34): Show |
CELF6 | ENSG00000140488.16 | transcript | ENST00000287202.10 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
CELF6_chr15_72279727_72325157 | 72325128 | T | TTTTCTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0137 | 1 | 289 | 0.0035 | 17 | c.-52 others(28): Show |
CELF6 | ENSG00000140488.16 | transcript | ENST00000287202.10 | protein_coding | 4972 | chr15 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46360318 | T | TGGTGGAC others(10): Show |
downstream_gene_variant | MODIFIER | NA18906.hp1 | a0038 | a0038c0048 | a0038c0048t0001 | a0038c0048t0001g0086 | 1 | 102 | 0.0098 | 17 | c.*29 others(28): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 855 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46365839 | T | TGGTGGGG others(10): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02145.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0043 a0001c0006t0001g0064 |
2 | 102 | 0.0196 | 17 | c.830 others(34): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71755381 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0007 | a0007c0010 | a0007c0010t0028 | a0007c0010t0028g0056 | 1 | 315 | 0.0032 | 17 | c.-12 others(34): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 1/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71762503 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0005 | a0005c0017 | a0005c0017t0047 | a0005c0017t0047g0292 | 1 | 55 | 0.0182 | 17 | c.-13 others(34): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 1/23 | chr9 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80839289 | A | ATGTGTGT others(10): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02622.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0003a0001c0005a0001c0012others(1): Show | a0001c0003t0001a0001c0003t0006a0001c0005t0008others(2): Show | a0001c0003t0001g0076 a0001c0003t0001g0121 a0001c0003t0006g0253 others(3): Show |
6 | 14 | 0.4286 | 17 | c.-17 others(38): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | chr15 | TogoVar | |||||||
CEMP1_chr16_2525035_2536408 | 2527239 | C | CCCTGCTG others(10): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 HG02896.hp2 HG02922.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0005 | a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0002t0005g0000 |
7 | 346 | 0.0202 | 17 | c.*30 others(28): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 2795 | chr16 | TogoVar | |||||||
CEMP1_chr16_2525035_2536408 | 2533430 | A | ATTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG02165.hp1 others(11): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0004c0003t0001 | a0001c0001t0001g0000 a0004c0003t0001g0000 |
14 | 26 | 0.5385 | 17 | c.-23 others(28): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 2023 | chr16 | TogoVar | |||||||
CEMP1_chr16_2525035_2536408 | 2533460 | T | TTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 343 | 0.0029 | 17 | c.-23 others(28): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 2053 | chr16 | TogoVar | |||||||
CEMP1_chr16_2525035_2536408 | 2533461 | T | TTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 346 | 0.0029 | 17 | c.-23 others(28): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 2054 | chr16 | TogoVar | |||||||
CEMP1_chr16_2525035_2536408 | 2534773 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 NA19043.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 2 | 318 | 0.0063 | 17 | c.-37 others(28): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 3366 | chr16 | TogoVar | |||||||
CENATAC_chr11_118993138_119020793 | 119006075 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 135 | 0.0074 | 17 | c.384 others(34): Show |
CENATAC | ENSG00000186166.9 | transcript | ENST00000334418.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CENPA_chr2_26781056_26799589 | 26784448 | C | CTCTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 110 | 0.0091 | 17 | c.-17 others(28): Show |
CENPA | ENSG00000115163.15 | transcript | ENST00000335756.9 | protein_coding | 1607 | chr2 | TogoVar | |||||||
CENPA_chr2_26781056_26799589 | 26784448 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 others(7): Show |
33 | 142 | 0.2324 | 17 | c.-17 others(28): Show |
CENPA | ENSG00000115163.15 | transcript | ENST00000335756.9 | protein_coding | 1607 | chr2 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103132960 | T | TTATATAT others(10): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG02451.hp1 others(5): Show |
a0001a0004a0010 | a0001c0007a0004c0012a0010c0014 | a0001c0007t0001a0004c0012t0001a0010c0014t0002 | a0001c0007t0001g0092 a0001c0007t0001g0096 a0001c0007t0001g0098 others(5): Show |
8 | 142 | 0.0563 | 17 | c.672 others(32): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 41/48 | chr4 | TogoVar | |||||||
CENPH_chr5_69184583_69215357 | 69200719 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA19005.hp2 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0177 |
2 | 24 | 0.0833 | 17 | c.372 others(34): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24881915 | C | CATCTATA others(10): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 | 1 | 425 | 0.0024 | 17 | c.*12 others(28): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 363 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24924288 | C | CGATGTTA others(10): Show |
upstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0233 | 1 | 438 | 0.0023 | 17 | c.-15 others(28): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 1428 | chr13 | TogoVar | |||||||
CENPO_chr2_24788425_24827376 | 24817466 | C | CAGAAAAA others(10): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0252 | 1 | 55 | 0.0182 | 17 | c.767 others(32): 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(10): Show |
intron_variant | MODIFIER | HG02647.hp2 NA18951.hp1 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0034 | a0001c0001t0003g0180 a0001c0001t0011g0233 a0001c0001t0034g0162 |
3 | 141 | 0.0213 | 17 | c.565 others(36): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92533322 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0164 | 1 | 235 | 0.0043 | 17 | c.565 others(36): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | chr9 | TogoVar | |||||||
CENPP_chr9_92320953_92625529 | 92533328 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0126 | 1 | 97 | 0.0103 | 17 | c.565 others(36): 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(10): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0089 | 1 | 97 | 0.0103 | 17 | c.565 others(36): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPQ_chr6_49458370_49498107 | 49487454 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01123.hp2 HG01243.hp2 others(10): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0115 others(10): Show |
13 | 133 | 0.0977 | 17 | c.478 others(32): Show |
CENPQ | ENSG00000031691.7 | transcript | ENST00000335783.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP104_chr1_3807086_3862211 | 3844707 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01175.hp1 NA18974.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0020 | a0001c0001t0005g0300 a0001c0001t0020g0284 |
2 | 227 | 0.0088 | 17 | c.566 others(32): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 6/21 | chr1 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65870061 | G | GAAAGAAA others(10): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0085 | 1 | 110 | 0.0091 | 17 | c.216 others(38): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65870065 | G | GAAAGAAA others(10): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01081.hp2 HG01258.hp2 others(7): Show |
a0001a0002a0004 | a0001c0002a0002c0001a0004c0005 | a0001c0002t0001a0002c0001t0001a0002c0001t0004others(2): Show | a0001c0002t0001g0052 a0001c0002t0001g0060 a0001c0002t0001g0068 others(7): Show |
10 | 68 | 0.1471 | 17 | c.216 others(38): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65920362 | A | ACAAACAA others(10): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0005 | 1 | 7 | 0.1429 | 17 | c.198 others(36): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 19/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65920405 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0009 | 1 | 110 | 0.0091 | 17 | c.198 others(36): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 19/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66195025 | A | AAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0111 | 1 | 71 | 0.0141 | 17 | c.-30 others(28): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 2893 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66195025 | A | AAAAATAT others(10): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0031 | 1 | 71 | 0.0141 | 17 | c.-30 others(28): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 2893 | chr17 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 102003215 | T | TATATATA others(10): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0003 | a0003c0004 | a0003c0004t0010 | a0003c0004t0010g0321 | 1 | 327 | 0.0031 | 17 | c.*55 others(28): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2154 | chr11 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80678049 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0014 | 1 | 58 | 0.0172 | 17 | c.280 others(38): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80729058 | G | GTGTGTGT others(10): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 46 | 0.0217 | 17 | c.280 others(38): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80810323 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 48 | 0.0208 | 17 | c.121 others(38): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80935646 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02970.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0058 |
3 | 53 | 0.0566 | 17 | c.-16 others(34): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 2/24 | chr14 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81195112 | C | CACACATG others(10): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00558.hp1 others(64): Show |
a0002a0004a0010others(8): Show | a0002c0002a0002c0047a0002c0061others(10): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0012others(12): Show | a0002c0002t0001g0024 a0002c0002t0001g0273 a0002c0002t0002g0001 others(54): Show |
67 | 382 | 0.1754 | 17 | c.201 others(34): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 16/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81205448 | G | GGGGGGGT others(10): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01074.hp2 HG01256.hp1 others(47): Show |
a0003a0004a0005others(12): Show | a0003c0014a0004c0005a0004c0044others(16): Show | a0003c0014t0003a0004c0005t0001a0004c0044t0011others(16): Show | a0003c0014t0003g0314 a0003c0014t0003g0322 a0003c0014t0003g0324 others(42): Show |
50 | 378 | 0.1323 | 17 | c.515 others(34): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 5/25 | chr17 | TogoVar |