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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CECR2_chr22_17364460_17563151 | 17400497 | C | CTTGAGAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02280.hp1 others(7): Show |
a0001a0002a0011 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0010a0001c0001t0017a0001c0001t0025others(5): Show | a0001c0001t0010g0198a0001c0001t0010g0270a0001c0001t0010g0271others(7): Show | 10 | 324 | 0.0309 | 9 | c.126 others(28): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17403273 | T | TGTACCAG others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01884.hp2 HG02055.hp2 others(18): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(15): Show | a0001c0001t0001g0035a0001c0001t0002g0160a0001c0001t0010g0198others(18): Show | 21 | 324 | 0.0648 | 9 | c.126 others(28): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17445543 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG02886.hp2 NA19043.hp1 NA19065.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0004a0001c0001t0052a0002c0002t0031others(1): Show | a0001c0001t0004g0148a0001c0001t0052g0315a0002c0002t0031g0279others(1): Show | 4 | 324 | 0.0124 | 9 | c.127 others(28): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17447033 | C | CTGTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02647.hp1 HG02738.hp2 others(9): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0053a0001c0001t0001g0227a0001c0001t0002g0021others(9): Show | 12 | 324 | 0.0370 | 9 | c.127 others(28): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17466598 | C | CCTTTTTT others(2): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18973.hp1 NA18973.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0006t0004a0002c0002t0001others(1): Show | a0001c0001t0001g0023a0001c0006t0004g0123a0002c0002t0001g0175others(1): Show | 4 | 324 | 0.0124 | 9 | c.127 others(28): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17516631 | T | TTTGCTGT others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG00733.hp1 others(13): Show |
a0001a0003a0009 | a0001c0001a0003c0003a0003c0025others(1): Show | a0001c0001t0003a0001c0001t0071a0003c0003t0001others(4): Show | a0001c0001t0003g0059a0001c0001t0003g0176a0001c0001t0071g0129others(13): Show | 16 | 324 | 0.0494 | 9 | c.954 others(26): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17525285 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01106.hp1 HG01978.hp2 others(4): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0124a0001c0001t0002g0219a0001c0001t0007g0260others(4): Show | 7 | 324 | 0.0216 | 9 | c.110 others(28): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17561603 | G | GGAAAAGA others(2): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG01071.hp1 HG01099.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0011a0001c0001t0052others(4): Show | a0001c0001t0002g0096a0001c0001t0002g0221a0001c0001t0011g0085others(9): Show | 12 | 324 | 0.0370 | 9 | c.*87 others(20): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 3453 | chr22 | TogoVar | ||||||
CELA1_chr12_51323442_51351679 | 51347994 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00642.hp1 others(24): Show |
a0002 | a0002c0004a0002c0007a0002c0009others(1): Show | a0002c0004t0002a0002c0007t0002a0002c0009t0002others(1): Show | a0002c0004t0002g0006a0002c0004t0002g0008a0002c0004t0002g0017others(12): Show | 27 | 406 | 0.0665 | 9 | c.-13 others(20): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 1316 | chr12 | TogoVar | ||||||
CELA3A_chr1_21996657_22017542 | 22008152 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp2 others(84): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0001a0003c0010t0001 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0019others(27): Show | 87 | 419 | 0.2076 | 9 | c.642 others(24): Show |
CELA3A | ENSG00000142789.20 | transcript | ENST00000290122.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CELA3B_chr1_21972022_21994354 | 21972454 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(83): Show |
a0001a0011a0014 | a0001c0001a0001c0003a0001c0011others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0011t0001others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(44): Show | 86 | 444 | 0.1937 | 9 | c.-45 others(20): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 4567 | chr1 | TogoVar | ||||||
CELA3B_chr1_21972022_21994354 | 21983548 | A | AATGATGA others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02630.hp1 HG03579.hp2 |
a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0056a0006c0010t0001g0175a0006c0010t0001g0176 | 3 | 444 | 0.0068 | 9 | c.363 others(24): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CELF1_chr11_47460937_47558132 | 47489935 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01099.hp2 HG01192.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0127a0001c0001t0002g0028a0001c0001t0002g0030others(5): Show | 8 | 340 | 0.0235 | 9 | c.72- others(22): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 3/14 | chr11 | TogoVar | ||||||
CELF1_chr11_47460937_47558132 | 47547065 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG03491.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0019 | a0001c0001t0001g0187a0001c0001t0001g0200a0001c0001t0001g0201others(6): Show | 9 | 340 | 0.0265 | 9 | c.-15 others(28): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11032677 | C | CTTGGAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(22): Show | a0001c0001t0001g0031a0001c0001t0001g0092a0001c0001t0001g0097others(47): Show | 50 | 194 | 0.2577 | 9 | c.74+ others(26): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11323424 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00558.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(10): Show | a0001c0001t0001g0026a0001c0001t0001g0030a0001c0001t0001g0031others(27): Show | 30 | 194 | 0.1546 | 9 | c.129 others(28): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF3_chr1_151695058_151721803 | 151706246 | T | TTGCTGCT others(2): Show |
disruptive_inframe_insertion | MODERATE | HG02258.hp1 HG02280.hp1 NA19043.hp1 |
a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0029 | 3 | 432 | 0.0069 | 9 | c.109 others(18): Show |
p.Gln others(13): Show |
CELF3 | ENSG00000159409.15 | transcript | ENST00000290583.9 | protein_coding | 10/13 | 1886/5582 | 1103/1398 | 368/465 | chr1 | TogoVar | ||
CELF4_chr18_37238040_37570798 | 37307772 | C | CTGCCCTC others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01081.hp2 HG01109.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(17): Show | a0001c0001t0001g0050a0001c0001t0006g0016a0001c0001t0006g0044others(20): Show | 23 | 184 | 0.1250 | 9 | c.448 others(28): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37539073 | A | AACGCCCT others(2): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03139.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0019 | a0001c0001t0004g0042a0001c0001t0006g0041a0001c0001t0019g0043 | 3 | 184 | 0.0163 | 9 | c.286 others(28): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3226476 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18906.hp1 NA18966.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0005 | a0001c0001t0001g0060a0001c0001t0001g0062a0001c0001t0003g0061others(1): Show | 4 | 262 | 0.0153 | 9 | c.259 others(26): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | chr19 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3299515 | C | CTCTTCTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01496.hp1 HG01993.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0084a0001c0001t0001g0182a0001c0001t0001g0190others(8): Show | 11 | 262 | 0.0420 | 9 | c.*27 others(20): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2440 | chr19 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46373667 | A | AGGGGGAG others(2): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02630.hp2 HG02922.hp1 others(1): Show |
a0002a0003a0048 | a0002c0012a0002c0016a0003c0015others(1): Show | a0002c0012t0003a0002c0016t0003a0003c0015t0001others(1): Show | a0002c0012t0003g0012a0002c0016t0003g0025a0003c0015t0001g0022others(1): Show | 4 | 104 | 0.0385 | 9 | c.758 others(26): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46373676 | T | TGGGGGAG others(2): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02922.hp2 HG03579.hp1 |
a0010a0041a0043 | a0010c0069a0041c0066a0043c0058 | a0010c0069t0005a0041c0066t0002a0043c0058t0004 | a0010c0069t0005g0001a0041c0066t0002g0103a0043c0058t0004g0096 | 3 | 104 | 0.0289 | 9 | c.758 others(26): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46422766 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02976.hp1 HG02976.hp2 others(2): Show |
a0015a0024a0028others(2): Show | a0015c0045a0024c0021a0028c0049others(2): Show | a0015c0045t0001a0024c0021t0001a0028c0049t0001others(2): Show | a0015c0045t0001g0062a0024c0021t0001g0061a0028c0049t0001g0086others(2): Show | 5 | 104 | 0.0481 | 9 | c.461 others(30): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46474788 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02486.hp1 HG02647.hp1 others(3): Show |
a0001a0002a0013others(3): Show | a0001c0001a0002c0051a0013c0010others(3): Show | a0001c0001t0001a0002c0051t0003a0013c0010t0001others(3): Show | a0001c0001t0001g0087a0002c0051t0003g0053a0013c0010t0001g0007others(3): Show | 6 | 104 | 0.0577 | 9 | c.354 others(30): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80817602 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01884.hp2 HG02004.hp2 others(11): Show |
a0001a0002a0013 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0027a0001c0001t0001g0070a0001c0001t0001g0148others(11): Show | 14 | 254 | 0.0551 | 9 | c.-17 others(30): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CEMP1_chr16_2525035_2536408 | 2533275 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02280.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0001c0001t0001g0000a0002c0002t0002g0000a0002c0002t0003g0000others(1): Show | 14 | 348 | 0.0402 | 9 | c.-22 others(20): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 1868 | chr16 | TogoVar | ||||||
CENATAC_chr11_118993138_119020793 | 119018675 | G | GGGAGGAG others(2): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG00741.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0026 | 4 | 318 | 0.0126 | 9 | c.*30 others(20): Show |
CENATAC | ENSG00000186166.9 | transcript | ENST00000334418.6 | protein_coding | 2883 | chr11 | TogoVar | ||||||
CENPA_chr2_26781056_26799589 | 26784448 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0014a0001c0001t0001g0019a0001c0002t0001g0021 | 6 | 382 | 0.0157 | 9 | c.-17 others(20): Show |
CENPA | ENSG00000115163.15 | transcript | ENST00000335756.9 | protein_coding | 1607 | chr2 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24881904 | A | ATATATAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 HG01981.hp1 HG02004.hp2 others(4): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0007a0001c0004t0001 | a0001c0002t0001g0155a0001c0002t0007g0025a0001c0002t0007g0236others(4): Show | 7 | 440 | 0.0159 | 9 | c.*12 others(20): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 374 | chr13 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24881926 | A | ATATATAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 HG03704.hp2 HG04204.hp1 others(1): Show |
a0001a0017 | a0001c0002a0017c0023 | a0001c0002t0001a0017c0023t0001 | a0001c0002t0001g0005a0001c0002t0001g0044a0001c0002t0001g0162others(1): Show | 4 | 440 | 0.0091 | 9 | c.*12 others(20): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 352 | chr13 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24882072 | A | ATATATAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG01074.hp1 HG01081.hp1 others(17): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0003a0002c0003t0003g0016a0002c0003t0003g0017others(15): Show | 20 | 440 | 0.0455 | 9 | c.*11 others(20): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 206 | chr13 | TogoVar | ||||||
CENPK_chr5_65512766_65568168 | 65514228 | A | ATATTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 HG01981.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0282a0001c0001t0001g0296others(1): Show | 4 | 374 | 0.0107 | 9 | c.*42 others(20): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 3537 | chr5 | TogoVar | ||||||
CENPL_chr1_173794550_173829883 | 173825449 | C | CATTATTA others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00673.hp1 HG01361.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0008 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0044others(10): Show | 28 | 358 | 0.0782 | 9 | c.-13 others(20): Show |
CENPL | ENSG00000120334.16 | transcript | ENST00000682279.1 | protein_coding | 567 | chr1 | TogoVar | ||||||
CENPN_chr16_81002214_81036485 | 81024565 | T | TCAACTCA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(157): Show |
a0002a0008 | a0002c0001a0002c0006a0002c0011others(1): Show | a0002c0001t0002a0002c0001t0003a0002c0001t0006others(25): Show | a0002c0001t0002g0002a0002c0001t0002g0003a0002c0001t0002g0009others(87): Show | 160 | 398 | 0.4020 | 9 | c.634 others(24): Show |
CENPN | ENSG00000166451.14 | transcript | ENST00000305850.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CENPO_chr2_24788425_24827376 | 24811282 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00673.hp1 others(76): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(8): Show | a0001c0001t0001g0122a0001c0001t0001g0132a0001c0001t0001g0146others(49): Show | 79 | 382 | 0.2068 | 9 | c.217 others(26): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CENPO_chr2_24788425_24827376 | 24817466 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01081.hp2 HG01261.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(5): Show | a0001c0001t0001g0122a0001c0001t0001g0132a0001c0001t0001g0146others(39): Show | 50 | 382 | 0.1309 | 9 | c.767 others(24): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CENPO_chr2_24788425_24827376 | 24817466 | C | CGAAAAAA others(2): Show |
intron_variant | MODIFIER | NA18952.hp2 NA19056.hp1 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0019 | 3 | 382 | 0.0079 | 9 | c.767 others(24): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 6/7 | chr2 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92474742 | C | CTCATCAT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01074.hp2 HG02109.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0201a0001c0001t0003g0139a0001c0001t0003g0144others(11): Show | 14 | 260 | 0.0539 | 9 | c.564 others(28): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPV_chr17_16337537_16358469 | 16353372 | G | GCGGAGGC others(2): Show |
conservative_inframe_insertion | MODERATE | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(214): Show |
a0001a0003a0008 | a0001c0001a0001c0009a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(61): Show | 217 | 356 | 0.6096 | 9 | c.56_ others(14): Show |
p.Gly others(11): Show |
CENPV | ENSG00000166582.11 | transcript | ENST00000299736.5 | protein_coding | 1/5 | 97/1132 | 64/819 | 22/272 | chr17 | TogoVar | ||
CEP104_chr1_3807086_3862211 | 3852901 | C | CGGCCAAG others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(129): Show |
a0002a0007a0008 | a0002c0002a0002c0005a0002c0012others(2): Show | a0002c0002t0001a0002c0002t0011a0002c0002t0022others(7): Show | a0002c0002t0001g0001a0002c0002t0001g0006a0002c0002t0001g0007others(101): Show | 132 | 382 | 0.3456 | 9 | c.-14 others(24): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 1/21 | chr1 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65789696 | T | TCATCTCC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp2 others(66): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0003a0002c0001others(5): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(11): Show | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0021others(66): Show | 69 | 112 | 0.6161 | 9 | c.239 others(30): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65797057 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01891.hp1 HG02027.hp1 others(13): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(2): Show | a0001c0002t0001g0046a0001c0002t0001g0050a0001c0002t0001g0054others(13): Show | 16 | 112 | 0.1429 | 9 | c.239 others(30): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65951749 | C | CCCCCCCC others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00735.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021a0001c0002t0001g0050a0001c0002t0001g0051others(8): Show | 11 | 112 | 0.0982 | 9 | c.187 others(28): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 18/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66185180 | A | AAGAACTG others(2): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02145.hp1 HG02280.hp1 others(1): Show |
a0001a0002a0004 | a0001c0003a0002c0001a0004c0006 | a0001c0003t0002a0002c0001t0002a0004c0006t0002 | a0001c0003t0002g0109a0001c0003t0002g0112a0002c0001t0002g0111others(1): Show | 4 | 112 | 0.0357 | 9 | c.-8- others(24): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 1/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66195025 | A | ATATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 HG02622.hp2 HG02976.hp2 |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0001a0004c0006t0001 | a0001c0002t0001g0020a0001c0002t0001g0021a0004c0006t0001g0022 | 3 | 112 | 0.0268 | 9 | c.-30 others(20): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 2893 | chr17 | TogoVar | ||||||
CEP120_chr5_123339892_123428403 | 123409992 | C | CACACACA others(2): Show |
intron_variant | MODIFIER | HG02148.hp2 HG03453.hp1 HG03942.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0169a0002c0002t0001g0201a0003c0003t0001g0307 | 3 | 376 | 0.0080 | 9 | c.463 others(26): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 4/19 | chr5 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101929974 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02647.hp2 others(8): Show |
a0003a0005 | a0003c0004a0005c0006 | a0003c0004t0010a0003c0004t0021a0003c0004t0038others(3): Show | a0003c0004t0010g0307a0003c0004t0010g0322a0003c0004t0021g0315others(8): Show | 11 | 336 | 0.0327 | 9 | c.248 others(26): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101938159 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02165.hp2 HG02451.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(2): Show | a0001c0001t0002g0235a0001c0001t0004g0270a0001c0001t0012g0309others(3): Show | 6 | 336 | 0.0179 | 9 | c.249 others(26): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101998592 | C | CAAAAAAA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG02074.hp1 HG02451.hp2 HG02970.hp1 others(12): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0003a0007c0007others(1): Show | a0001c0001t0012a0002c0003t0007a0002c0003t0029others(2): Show | a0001c0001t0012g0309a0001c0001t0012g0310a0001c0001t0012g0311others(12): Show | 15 | 336 | 0.0446 | 9 | c.*95 others(18): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 11/11 | 968 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |