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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDK2AP1_chr12_123255976_123276856 | 123274888 | G | GAAAGAAA others(22): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG00741.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 a0001c0001t0002g0086 |
2 | 59 | 0.0339 | 29 | c.-32 others(40): Show |
CDK2AP1 | ENSG00000111328.7 | transcript | ENST00000261692.7 | protein_coding | 3033 | chr12 | TogoVar | |||||||
CDK5R2_chr2_218954666_218967155 | 218966239 | T | TTCAAGAC others(22): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 386 | 0.0026 | 29 | c.*53 others(40): Show |
CDK5R2 | ENSG00000171450.6 | transcript | ENST00000302625.6 | protein_coding | 4085 | chr2 | TogoVar | |||||||
CDKAL1_chr6_20529457_21237404 | 20609267 | C | CCTTCCTT others(22): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03195.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0008a0001c0004t0007a0001c0004t0018 | a0001c0001t0008g0016 a0001c0004t0007g0017 a0001c0004t0018g0015 |
3 | 190 | 0.0158 | 29 | c.287 others(48): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39226434 | A | AATTATAT others(22): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 172 | 0.0058 | 29 | c.169 others(44): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 2/9 | chr2 | TogoVar | |||||||
CDKL4_chr2_39170646_39248970 | 39226434 | A | AATTATAT others(22): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03453.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0013 a0001c0003t0001g0206 |
2 | 173 | 0.0116 | 29 | c.169 others(44): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 2/9 | chr2 | TogoVar | |||||||
CDKN2A_chr9_21962752_21979857 | 21971575 | A | ATTTTTTT others(22): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02257.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0045 a0001c0001t0001g0068 a0001c0001t0001g0139 others(4): Show |
8 | 74 | 0.1081 | 29 | c.151 others(44): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000304494.10 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21971575 | A | ATTTTTTT others(22): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02257.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0059 a0001c0001t0001g0113 a0001c0001t0001g0267 others(5): Show |
8 | 69 | 0.1159 | 29 | c.194 others(44): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2D_chr19_10561460_10573979 | 10570547 | C | CAAAAAAA others(22): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 9 | 0.1111 | 29 | c.-18 others(40): Show |
CDKN2D | ENSG00000129355.7 | transcript | ENST00000393599.3 | protein_coding | 1569 | chr19 | TogoVar | |||||||
CDRT4_chr17_15431015_15472621 | 15435748 | C | CAAAAAAA others(22): Show |
downstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 6 | 0.1667 | 29 | c.*20 others(40): Show |
CDRT4 | ENSG00000239704.12 | transcript | ENST00000619038.5 | protein_coding | 266 | chr17 | TogoVar | |||||||
CDYL2_chr16_80592907_80809598 | 80759120 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0005 | a0001c0005t0011 | a0001c0005t0011g0235 | 1 | 247 | 0.0040 | 29 | c.24+ others(46): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
CEACAM19_chr19_44666482_44689355 | 44667832 | T | TTTATATA others(22): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 369 | 0.0027 | 29 | c.-41 others(40): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 3649 | chr19 | TogoVar | |||||||
CEACAM19_chr19_44666482_44689355 | 44667876 | T | TAAATATA others(22): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0077 | 1 | 383 | 0.0026 | 29 | c.-40 others(40): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 3605 | chr19 | TogoVar | |||||||
CEACAM19_chr19_44666482_44689355 | 44667887 | A | AAATGTAT others(22): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0056 | 1 | 388 | 0.0026 | 29 | c.-40 others(40): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 3594 | chr19 | TogoVar | |||||||
CEACAM19_chr19_44666482_44689355 | 44668655 | T | TTATATAA others(22): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0057 | 1 | 387 | 0.0026 | 29 | c.-32 others(40): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 2826 | chr19 | TogoVar | |||||||
CEACAM4_chr19_41614015_41632074 | 41618000 | A | AACCTGTG others(22): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01074.hp1 others(34): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0001t0003g0127 a0001c0002t0003g0039 a0001c0002t0003g0174 others(18): Show |
37 | 436 | 0.0849 | 29 | c.*13 others(40): Show |
CEACAM4 | ENSG00000105352.11 | transcript | ENST00000221954.7 | protein_coding | 1014 | chr19 | TogoVar | |||||||
CEACAM8_chr19_42575243_42599924 | 42581920 | A | AAATATAT others(22): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 65 | 0.0308 | 29 | c.*41 others(44): Show |
CEACAM8 | ENSG00000124469.12 | transcript | ENST00000244336.10 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17524387 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02055.hp1 |
a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0155 a0003c0003t0006g0244 |
2 | 119 | 0.0168 | 29 | c.110 others(46): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11197052 | A | AGAAAGGA others(22): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0049 | 1 | 98 | 0.0102 | 29 | c.272 others(48): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11197058 | A | AAAGAAAG others(22): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0041 | 1 | 163 | 0.0061 | 29 | c.272 others(48): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11197070 | G | GAAAGAAG others(22): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0042 | 1 | 155 | 0.0065 | 29 | c.272 others(48): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | chr10 | TogoVar | |||||||
CELF5_chr19_3219661_3302076 | 3299553 | C | CTTCTTCT others(22): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 HG02896.hp1 HG04184.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0002t0005 | a0001c0001t0004g0077 a0001c0001t0004g0153 a0001c0001t0005g0007 others(1): Show |
4 | 230 | 0.0174 | 29 | c.*28 others(40): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2478 | chr19 | TogoVar | |||||||
CELF5_chr19_3219661_3302076 | 3299556 | C | CTTCTTCT others(22): Show |
downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0151 | 1 | 257 | 0.0039 | 29 | c.*28 others(40): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2481 | chr19 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46373471 | A | ACCCAGTG others(22): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0027 | a0027c0057 | a0027c0057t0004 | a0027c0057t0004g0096 | 1 | 102 | 0.0098 | 29 | c.758 others(46): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80900679 | T | TGTGTGTG others(22): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0098 a0001c0003t0001g0002 |
2 | 248 | 0.0081 | 29 | c.141 others(48): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 12/29 | chr15 | TogoVar | |||||||
CENPH_chr5_69184583_69215357 | 69200719 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 23 | 0.0435 | 29 | c.372 others(46): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CENPO_chr2_24788425_24827376 | 24817466 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA19002.hp1 NA19006.hp1 NA19012.hp2 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0061 a0002c0002t0008g0065 a0002c0002t0008g0069 |
3 | 57 | 0.0526 | 29 | c.767 others(44): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CEP104_chr1_3807086_3862211 | 3838348 | T | TCTATGTT others(22): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0293 a0001c0001t0005g0299 a0001c0001t0005g0302 |
3 | 380 | 0.0079 | 29 | c.891 others(44): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 8/21 | chr1 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65870065 | G | GAAAGAAA others(22): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01258.hp1 HG01517.hp2 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0002a0002c0001t0001 | a0001c0002t0001g0093 a0001c0003t0002g0112 a0002c0001t0001g0016 others(5): Show |
8 | 66 | 0.1212 | 29 | c.216 others(50): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101938159 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02523.hp1 NA18953.hp1 NA18954.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0022others(1): Show | a0001c0001t0002g0156 a0001c0001t0002g0188 a0001c0001t0002g0199 others(7): Show |
10 | 158 | 0.0633 | 29 | c.249 others(46): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 102003215 | T | TATATATA others(22): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0004 | a0003c0004t0010 | a0003c0004t0010g0319 | 1 | 327 | 0.0031 | 29 | c.*55 others(40): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2154 | chr11 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80729058 | G | GTGTGTGT others(22): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02080.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0006a0004c0004t0012 | a0001c0001t0006g0111 a0004c0004t0012g0103 |
2 | 47 | 0.0426 | 29 | c.280 others(50): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84159547 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0081 | 1 | 102 | 0.0098 | 29 | c.278 others(48): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | |||||||
CEP164_chr11_117322854_117418266 | 117337510 | T | TAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG03704.hp2 HG04199.hp1 NA19054.hp2 |
a0005a0011 | a0005c0007a0011c0012 | a0005c0007t0006a0011c0012t0006 | a0005c0007t0006g0033 a0005c0007t0006g0261 a0011c0012t0006g0262 |
3 | 304 | 0.0099 | 29 | c.-21 others(46): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP19_chr3_196701277_196717250 | 196708673 | C | CGGGTAAG others(22): Show |
5_prime_UTR_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0056 | 1 | 430 | 0.0023 | 29 | c.-45 others(36): Show |
CEP19 | ENSG00000174007.9 | transcript | ENST00000409690.5 | protein_coding | 2/3 | 17 | chr3 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134564576 | G | GATGCTGG others(22): Show |
3_prime_UTR_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0304 | 1 | 320 | 0.0031 | 29 | c.*30 others(40): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 15/15 | 3045 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP68_chr2_65051416_65092004 | 65081783 | T | TGCCTCCC others(22): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0068 | 1 | 358 | 0.0028 | 29 | c.210 others(46): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 649308 | C | CTGTGAGG others(22): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 90 | 0.0111 | 29 | c.177 others(48): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 649903 | C | CTGTGAGG others(22): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0079 | 1 | 74 | 0.0135 | 29 | c.177 others(48): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650180 | C | CTGTGAGG others(22): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0067 | 1 | 74 | 0.0135 | 29 | c.177 others(48): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94316478 | A | ACATGTGC others(22): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(86): Show |
a0001a0003a0006 | a0001c0001a0001c0003a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(86): Show |
89 | 362 | 0.2459 | 29 | c.170 others(48): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 14/16 | chr12 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118542900 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02976.hp2 HG04199.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0188 a0002c0002t0002g0241 |
2 | 58 | 0.0345 | 29 | c.102 others(50): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGG others(22): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0225 | 1 | 117 | 0.0085 | 29 | c.232 others(48): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGG others(22): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0173 | 1 | 117 | 0.0085 | 29 | c.232 others(48): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP97_chr3_101719614_101775562 | 101723434 | T | TATCTAAA others(22): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0143 | 1 | 328 | 0.0030 | 29 | c.-12 others(40): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 1179 | chr3 | TogoVar | |||||||
CER1_chr9_14714724_14727733 | 14718979 | T | TATCAGAA others(22): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0008 | 1 | 458 | 0.0022 | 29 | c.*11 others(40): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 744 | chr9 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181609533 | T | TAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02040.hp2 NA18747.hp2 others(6): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0003a0002c0003t0004a0002c0004t0002others(2): Show | a0002c0003t0003g0104 a0002c0003t0004g0105 a0002c0004t0002g0274 others(6): Show |
9 | 42 | 0.2143 | 29 | c.239 others(46): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8245111 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0255 | 1 | 364 | 0.0027 | 29 | c.-1- others(44): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8266863 | C | CAAAAAAA others(22): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0053 | 1 | 55 | 0.0182 | 29 | c.*47 others(40): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4443 | chr19 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8267294 | C | CAAAAAAA others(22): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 HG01433.hp1 HG02976.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0007 | a0001c0001t0002a0001c0001t0003a0002c0003t0004others(1): Show | a0001c0001t0002g0290 a0001c0001t0003g0096 a0002c0003t0004g0224 others(3): Show |
6 | 113 | 0.0531 | 29 | c.*51 others(40): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4874 | chr19 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168486518 | G | GTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 157 | 0.0064 | 29 | c.170 others(48): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | chr2 | TogoVar |