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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEBPZOS_chr2_37191496_37209743 | 37202644 | CAAAAAAA others(11): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0012 | 4 | 105 | 0.0381 | -18 | c.*81 others(27): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 5/5 | 951 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CEBPZ_chr2_37196612_37236596 | 37202644 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0045 a0001c0002t0002g0234 a0001c0002t0002g0237 |
4 | 98 | 0.0408 | -18 | c.302 others(35): Show |
CEBPZ | ENSG00000115816.15 | transcript | ENST00000234170.10 | protein_coding | 15/15 | chr2 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17372012 | GTAGTTTA others(11): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02647.hp2 HG03516.hp2 others(1): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0010a0002c0002t0039a0004c0004t0016others(1): Show | a0001c0001t0010g0002 a0002c0002t0039g0007 a0004c0004t0016g0006 others(1): Show |
4 | 322 | 0.0124 | -18 | c.126 others(35): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | chr22 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17445543 | TTTATTAT others(11): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01261.hp1 HG01891.hp2 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0075 a0001c0001t0001g0134 a0001c0001t0001g0135 others(13): Show |
16 | 74 | 0.2162 | -18 | c.127 others(37): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CELA2A_chr1_15451732_15477091 | 15458908 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00733.hp2 others(58): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0093 a0001c0002t0001g0009 a0001c0002t0001g0016 others(38): Show |
61 | 64 | 0.9531 | -18 | c.129 others(35): Show |
CELA2A | ENSG00000142615.8 | transcript | ENST00000359621.5 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CELF1_chr11_47460937_47558132 | 47481102 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0089 | 1 | 130 | 0.0077 | -18 | c.768 others(35): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 9/14 | chr11 | TogoVar | |||||||
CELF1_chr11_47460937_47558132 | 47545852 | TGTGTGTG others(11): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0320 | 1 | 338 | 0.0030 | -18 | c.-15 others(37): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
CELF2_chr10_11012872_11341675 | 11202935 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0166 | 1 | 191 | 0.0052 | -18 | c.272 others(37): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11202937 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0004 | a0001c0004t0030 | a0001c0004t0030g0063 | 1 | 192 | 0.0052 | -18 | c.272 others(37): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11228718 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0155 | 1 | 16 | 0.0625 | -18 | c.354 others(37): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11285826 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 68 | 0.0147 | -18 | c.842 others(35): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF3_chr1_151695058_151721803 | 151709597 | GCCACACT others(11): Show |
G | intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 430 | 0.0023 | -18 | c.277 others(33): Show |
CELF3 | ENSG00000159409.15 | transcript | ENST00000290583.9 | protein_coding | 3/12 | chr1 | TogoVar | |||||||
CELF4_chr18_37238040_37570798 | 37343329 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0011 | 1 | 68 | 0.0147 | -18 | c.370 others(37): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
CELF4_chr18_37238040_37570798 | 37510579 | CTTACAGA others(11): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0060 | 1 | 182 | 0.0055 | -18 | c.287 others(37): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
CELF4_chr18_37238040_37570798 | 37513941 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0113 | 1 | 42 | 0.0238 | -18 | c.287 others(37): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
CELF4_chr18_37238040_37570798 | 37545631 | CTCGCTGG others(11): Show |
C | intron_variant | MODIFIER | HG00408.hp1 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0017 | a0001c0001t0013g0003 a0001c0001t0017g0021 |
2 | 182 | 0.0110 | -18 | c.286 others(37): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
CELF4_chr18_37238040_37570798 | 37565955 | CTTTTTTT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG02630.hp1 HG02976.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0015 | a0001c0001t0006g0004 a0001c0002t0015g0006 |
2 | 182 | 0.0110 | -18 | c.-33 others(27): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 158 | chr18 | TogoVar | |||||||
CELF5_chr19_3219661_3302076 | 3256534 | TTTATTAT others(11): Show |
T | intron_variant | MODIFIER | HG02165.hp2 HG02486.hp1 HG02615.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0090 a0001c0001t0001g0120 a0001c0001t0001g0121 others(12): Show |
15 | 60 | 0.2500 | -18 | c.342 others(35): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3299500 | CTCTTCTT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 255 | 0.0039 | -18 | c.*27 others(29): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2425 | chr19 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46373676 | TGGGGGAG others(11): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp1 NA18906.hp1 others(1): Show |
a0015a0017a0038others(1): Show | a0015c0044a0017c0045a0038c0048others(1): Show | a0015c0044t0001a0017c0045t0001a0038c0048t0001others(1): Show | a0015c0044t0001g0062 a0017c0045t0001g0030 a0038c0048t0001g0086 others(1): Show |
4 | 96 | 0.0417 | -18 | c.758 others(35): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | TogoVar | |||||||
CEL_chr9_133056981_133076861 | 133069532 | GAGCTACC others(11): Show |
G | intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 414 | 0.0024 | -18 | c.128 others(35): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71755961 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01099.hp1 HG01123.hp2 others(42): Show |
a0001a0002a0007others(3): Show | a0001c0001a0002c0002a0002c0034others(5): Show | a0001c0001t0001a0001c0001t0053a0002c0002t0001others(16): Show | a0001c0001t0001g0309 a0001c0001t0053g0082 a0002c0002t0001g0033 others(42): Show |
45 | 168 | 0.2679 | -18 | c.-12 others(35): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 1/23 | chr9 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80848953 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01168.hp1 HG01175.hp1 others(7): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0170 a0001c0001t0002g0221 a0001c0002t0001g0150 others(7): Show |
10 | 11 | 0.9091 | -18 | c.-17 others(39): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CENPB_chr20_3778851_3791740 | 3780416 | GCACACAC others(11): Show |
G | downstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 197 | 0.0051 | -18 | c.*42 others(29): Show |
CENPB | ENSG00000125817.8 | transcript | ENST00000379751.5 | protein_coding | 3434 | chr20 | TogoVar | |||||||
CENPC_chr4_67463762_67550503 | 67491446 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0076 | 1 | 191 | 0.0052 | -18 | c.251 others(35): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 16/18 | chr4 | TogoVar | |||||||
CENPC_chr4_67463762_67550503 | 67491468 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0255 | 1 | 304 | 0.0033 | -18 | c.251 others(35): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 16/18 | chr4 | TogoVar | |||||||
CENPC_chr4_67463762_67550503 | 67491470 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0254 | 1 | 269 | 0.0037 | -18 | c.251 others(35): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 16/18 | chr4 | TogoVar | |||||||
CENPC_chr4_67463762_67550503 | 67491474 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0268 | 1 | 203 | 0.0049 | -18 | c.251 others(35): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 16/18 | chr4 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103200556 | TCTACACA others(11): Show |
T | upstream_gene_variant | MODIFIER | HG02886.hp2 HG03098.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0073 a0001c0004t0001g0074 |
2 | 291 | 0.0069 | -18 | c.-22 others(29): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 2214 | chr4 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103200558 | TACACACA others(11): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00558.hp1 others(44): Show |
a0003a0008 | a0003c0003a0008c0009 | a0003c0003t0001a0008c0009t0001 | a0003c0003t0001g0003 a0003c0003t0001g0069 a0003c0003t0001g0101 others(42): Show |
47 | 102 | 0.4608 | -18 | c.-22 others(29): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 2216 | chr4 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882071 | GATATATA others(11): Show |
G | downstream_gene_variant | MODIFIER | NA19091.hp2 | a0002 | a0002c0007 | a0002c0007t0005 | a0002c0007t0005g0023 | 1 | 427 | 0.0023 | -18 | c.*10 others(29): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 207 | chr13 | TogoVar | |||||||
CENPK_chr5_65512766_65568168 | 65514245 | TTTTTTTT others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01106.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0006 a0001c0001t0001g0120 a0001c0001t0001g0136 others(3): Show |
6 | 372 | 0.0161 | -18 | c.*42 others(29): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 3520 | chr5 | TogoVar | |||||||
CENPK_chr5_65512766_65568168 | 65527498 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02602.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0182 others(9): Show |
12 | 15 | 0.8000 | -18 | c.597 others(33): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 9/10 | chr5 | TogoVar | |||||||
CENPK_chr5_65512766_65568168 | 65545322 | GCGCACAC others(11): Show |
G | intron_variant | MODIFIER | HG03225.hp2 HG03540.hp2 NA18957.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0035 a0001c0001t0001g0134 a0001c0001t0001g0154 others(5): Show |
9 | 91 | 0.0989 | -18 | c.242 others(35): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 5/10 | chr5 | TogoVar | |||||||
CENPK_chr5_65512766_65568168 | 65545324 | GCACACAC others(11): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0043 | 1 | 297 | 0.0034 | -18 | c.242 others(35): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 5/10 | chr5 | TogoVar | |||||||
CENPM_chr22_41933737_41952152 | 41934852 | TACCTCAG others(11): Show |
T | downstream_gene_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 256 | 0.0039 | -18 | c.*41 others(29): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 3884 | chr22 | TogoVar | |||||||
CENPP_chr9_92320953_92625529 | 92357461 | CATTATTA others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(85): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0074 others(85): Show |
88 | 107 | 0.8224 | -18 | c.467 others(37): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92449437 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 8 | 0.1250 | -18 | c.564 others(37): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92533328 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0002 | 1 | 97 | 0.0103 | -18 | c.565 others(37): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92555214 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01168.hp1 HG01169.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016a0001c0001t0046others(1): Show | a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0019 others(17): Show |
20 | 71 | 0.2817 | -18 | c.565 others(37): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPT_chr16_67823157_67852693 | 67842893 | ACAGCAGC others(11): Show |
A | intron_variant | MODIFIER | HG01071.hp2 NA18983.hp2 NA19009.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0117 a0001c0001t0001g0133 a0002c0002t0001g0007 |
3 | 262 | 0.0115 | -18 | c.-49 others(37): Show |
CENPT | ENSG00000102901.13 | transcript | ENST00000562787.6 | protein_coding | 1/15 | chr16 | TogoVar | |||||||
CENPVL1_chrX_51705512_51717131 | 51707495 | AACACACA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG02630.hp1 HG03669.hp2 HG04184.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 27 | 0.1481 | -18 | c.-30 others(29): Show |
CENPVL1 | ENSG00000223591.5 | transcript | ENST00000602548.2 | protein_coding | 3016 | chrX | TogoVar | |||||||
CENPV_chr17_16337537_16358469 | 16353349 | CGGCCGCG others(11): Show |
C | conservative_inframe_deletion | MODERATE | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0035 | 1 | 350 | 0.0029 | -18 | c.70_ others(23): Show |
p.Pro others(11): Show |
CENPV | ENSG00000166582.11 | transcript | ENST00000299736.5 | protein_coding | 1/5 | 120/1132 | 70/819 | 24/272 | chr17 | TogoVar | |||
CEP112_chr17_65630537_66197133 | 65649073 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG02145.hp2 NA18985.hp1 NA18986.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0001 | a0001c0002t0001g0068 a0001c0003t0001g0009 a0002c0001t0001g0051 others(1): Show |
4 | 17 | 0.2353 | -18 | c.269 others(37): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65679129 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01109.hp1 NA20129.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0059 a0001c0002t0001g0092 a0002c0001t0001g0076 |
3 | 7 | 0.4286 | -18 | c.269 others(37): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65772601 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG02602.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0010 | 1 | 110 | 0.0091 | -18 | c.239 others(39): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65864913 | AGTGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG00741.hp2 others(13): Show |
a0001a0002a0006 | a0001c0002a0002c0001a0006c0009 | a0001c0002t0001a0002c0001t0001a0006c0009t0005 | a0001c0002t0001g0014 a0001c0002t0001g0046 a0001c0002t0001g0062 others(13): Show |
16 | 34 | 0.4706 | -18 | c.216 others(39): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65920362 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG01517.hp2 HG02145.hp1 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0002 | a0002c0001t0001g0102 a0002c0001t0002g0111 |
2 | 8 | 0.2500 | -18 | c.198 others(37): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 19/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66086380 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG01884.hp2 HG02451.hp2 others(10): Show |
a0001a0002a0004 | a0001c0002a0002c0001a0004c0005 | a0001c0002t0001a0002c0001t0001a0004c0005t0001 | a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0063 others(10): Show |
13 | 14 | 0.9286 | -18 | c.768 others(35): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 8/26 | chr17 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101911094 | CTTTTTTT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01099.hp2 HG01106.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0001c0001t0008a0001c0001t0009others(3): Show | a0001c0001t0004g0178 a0001c0001t0008g0036 a0001c0001t0009g0300 others(6): Show |
9 | 15 | 0.6000 | -18 | c.-41 others(29): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3915 | chr11 | TogoVar |