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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | 466 | 0.0086 | -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 | a0001c0002t0002g0046a0001c0002t0002g0237a0001c0002t0002g0240 | 4 | 438 | 0.0091 | -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 | a0001c0001t0010a0002c0002t0043a0004c0004t0017others(1): Show | a0001c0001t0010g0002a0002c0002t0043g0007a0004c0004t0017g0006others(1): Show | 4 | 324 | 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 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0002g0213a0001c0001t0003g0049a0001c0001t0006g0319others(13): Show | 16 | 324 | 0.0494 | -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 | a0001c0001t0001g0093a0001c0002t0001g0009a0001c0002t0001g0016others(38): Show | 61 | 430 | 0.1419 | -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 | a0001c0001t0008g0098 | 1 | 340 | 0.0029 | -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 | 340 | 0.0029 | -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 | 194 | 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 | 194 | 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 | a0001c0003t0023 | a0001c0003t0023g0155 | 1 | 194 | 0.0052 | -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 | 194 | 0.0052 | -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 | 432 | 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 | 184 | 0.0054 | -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 | 184 | 0.0054 | -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 | a0001c0001t0008g0112 | 1 | 184 | 0.0054 | -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 | a0001c0001t0013g0003a0001c0001t0017g0021 | 2 | 184 | 0.0109 | -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 | a0001c0001t0006g0005a0001c0002t0015g0006 | 2 | 184 | 0.0109 | -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 | a0001c0001t0001g0090a0001c0001t0001g0120a0001c0001t0001g0121others(12): Show | 15 | 262 | 0.0573 | -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 | 262 | 0.0038 | -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 |
a0015a0018a0028others(1): Show | a0015c0045a0018c0046a0028c0049others(1): Show | a0015c0045t0001a0018c0046t0001a0028c0049t0001others(1): Show | a0015c0045t0001g0062a0018c0046t0001g0030a0028c0049t0001g0086others(1): Show | 4 | 104 | 0.0385 | -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 | a0001c0076 | a0001c0076t0002 | a0001c0076t0002g0071 | 1 | 416 | 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 | a0001c0001t0001a0001c0001t0054a0002c0002t0001others(16): Show | a0001c0001t0001g0309a0001c0001t0054g0084a0002c0002t0001g0034others(42): Show | 45 | 320 | 0.1406 | -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 |
a0001a0003a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0170a0001c0001t0002g0221a0001c0002t0001g0150others(7): Show | 10 | 254 | 0.0394 | -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 | 410 | 0.0024 | -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 | 338 | 0.0030 | -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 | 338 | 0.0030 | -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 | 338 | 0.0030 | -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 | 338 | 0.0030 | -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 | a0001c0004t0001g0070a0001c0004t0001g0071 | 2 | 320 | 0.0063 | -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 | a0003c0003t0001g0002a0003c0003t0001g0066a0003c0003t0001g0100others(42): Show | 47 | 320 | 0.1469 | -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 | a0005 | a0005c0007 | a0005c0007t0005 | a0005c0007t0005g0021 | 1 | 440 | 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 | a0001c0001t0001g0115a0001c0001t0001g0132a0001c0001t0001g0288others(3): Show | 6 | 374 | 0.0160 | -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 | a0001c0001t0001g0160a0001c0001t0001g0184a0001c0001t0001g0213others(9): Show | 12 | 374 | 0.0321 | -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 | a0001c0001t0001g0130a0001c0001t0001g0148a0001c0001t0001g0185others(6): Show | 9 | 374 | 0.0241 | -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 | a0001c0001t0008g0028 | 1 | 374 | 0.0027 | -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 | 258 | 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 | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0001g0073others(85): Show | 88 | 260 | 0.3385 | -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 | 260 | 0.0039 | -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 | 260 | 0.0039 | -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 | a0001c0001t0005g0016a0001c0001t0005g0017a0001c0001t0005g0019others(17): Show | 20 | 260 | 0.0769 | -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 | a0001c0001t0001g0133a0001c0001t0001g0137a0002c0002t0001g0197 | 3 | 266 | 0.0113 | -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 | 238 | 0.0168 | -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 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0070 | 1 | 356 | 0.0028 | -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 | a0001c0002t0001g0076a0001c0003t0001g0009a0002c0001t0001g0049others(1): Show | 4 | 112 | 0.0357 | -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 | a0001c0002t0001g0056a0001c0002t0001g0092a0002c0001t0001g0079 | 3 | 112 | 0.0268 | -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 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0010 | 1 | 112 | 0.0089 | -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 |
a0001a0002a0005 | a0001c0002a0002c0001a0005c0009 | a0001c0002t0001a0002c0001t0001a0005c0009t0005 | a0001c0002t0001g0014a0001c0002t0001g0053a0001c0002t0001g0058others(13): Show | 16 | 112 | 0.1429 | -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 | a0002c0001t0001g0104a0002c0001t0002g0111 | 2 | 112 | 0.0179 | -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 |
a0001a0002a0003 | a0001c0002a0002c0001a0003c0005 | a0001c0002t0001a0002c0001t0001a0003c0005t0001 | a0001c0002t0001g0057a0001c0002t0001g0058a0001c0002t0001g0059others(10): Show | 13 | 112 | 0.1161 | -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 | a0001c0001t0004g0216a0001c0001t0008g0036a0001c0001t0009g0299others(6): Show | 9 | 336 | 0.0268 | -18 | c.-41 others(29): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3915 | chr11 | TogoVar |