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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC9_chr19_47251525_47276953 | 47256691 | C | CGGGCGGG others(38): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0049 | 1 | 188 | 0.0053 | 45 | c.-72 others(58): Show |
CCDC9 | ENSG00000105321.14 | transcript | ENST00000221922.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CCNT1_chr12_48683458_48721707 | 48697534 | A | AAAAAAAA others(38): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0097 | 1 | 172 | 0.0058 | 45 | c.542 others(60): Show |
CCNT1 | ENSG00000129315.12 | transcript | ENST00000261900.8 | protein_coding | 6/8 | chr12 | TogoVar | |||||||
CD151_chr11_827952_843831 | 833067 | C | CGGGGCGA others(38): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18970.hp1 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 3 | 444 | 0.0068 | 45 | c.-70 others(58): Show |
CD151 | ENSG00000177697.19 | transcript | ENST00000397420.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CD244_chr1_160825160_160867887 | 160828847 | A | AGAAAGAA others(38): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0233 | 1 | 399 | 0.0025 | 45 | c.*24 others(56): Show |
CD244 | ENSG00000122223.13 | transcript | ENST00000368034.9 | protein_coding | 1312 | chr1 | TogoVar | |||||||
CD247_chr1_167425640_167523529 | 167483015 | T | TCTTTCTT others(38): Show |
intron_variant | MODIFIER | HG01123.hp1 HG03688.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 a0001c0001t0001g0162 a0001c0001t0001g0299 |
3 | 370 | 0.0081 | 45 | c.58+ others(62): Show |
CD247 | ENSG00000198821.12 | transcript | ENST00000362089.10 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
CD4_chr12_6784528_6825799 | 6788362 | G | GTTTTCTT others(38): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 HG03579.hp1 NA19030.hp2 |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0009 | a0001c0001t0001a0002c0003t0007a0003c0009t0004 | a0001c0001t0001g0270 a0002c0003t0007g0269 a0003c0009t0004g0043 |
3 | 230 | 0.0130 | 45 | c.-13 others(56): Show |
CD4 | ENSG00000010610.10 | transcript | ENST00000011653.9 | protein_coding | 1165 | chr12 | TogoVar | |||||||
CD81_chr11_2372310_2402397 | 2380293 | G | GAGACGGA others(38): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 386 | 0.0026 | 45 | c.66+ others(60): Show |
CD81 | ENSG00000110651.13 | transcript | ENST00000263645.10 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
CD83_chr6_14112772_14141906 | 14140508 | C | CAAAAAAA others(38): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 106 | 0.0094 | 45 | c.*52 others(56): Show |
CD83 | ENSG00000112149.10 | transcript | ENST00000379153.4 | protein_coding | 3603 | chr6 | TogoVar | |||||||
CD8B_chr2_86833167_86866886 | 86833525 | T | TCGCTCAA others(38): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0158 | 1 | 389 | 0.0026 | 45 | c.*87 others(56): Show |
CD8B | ENSG00000172116.23 | transcript | ENST00000390655.12 | protein_coding | 4641 | chr2 | TogoVar | |||||||
CDA_chr1_20584097_20623903 | 20599617 | C | CAAAATAA others(38): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG01081.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0002c0004t0003 | a0001c0001t0001g0038 a0001c0001t0001g0142 a0001c0001t0001g0193 others(11): Show |
15 | 190 | 0.0789 | 45 | c.155 others(62): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CDC34_chr19_526760_547087 | 534484 | A | ACCCACGA others(38): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01099.hp2 HG01123.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0027 others(8): Show |
24 | 307 | 0.0782 | 45 | c.178 others(62): Show |
CDC34 | ENSG00000099804.9 | transcript | ENST00000215574.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CDC73_chr1_193117031_193259815 | 193162108 | T | TTATATTA others(38): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0104 | 1 | 271 | 0.0037 | 45 | c.972 others(62): Show |
CDC73 | ENSG00000134371.14 | transcript | ENST00000367435.5 | protein_coding | 10/16 | chr1 | TogoVar | |||||||
CDC73_chr1_193117031_193259815 | 193234267 | T | TTATAATA others(38): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02257.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 others(9): Show |
12 | 128 | 0.0938 | 45 | c.131 others(64): Show |
CDC73 | ENSG00000134371.14 | transcript | ENST00000367435.5 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CDCA7_chr2_173349872_173373997 | 173372025 | G | GATTTTTA others(38): Show |
downstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 215 | 0.0047 | 45 | c.*43 others(56): Show |
CDCA7 | ENSG00000144354.15 | transcript | ENST00000306721.8 | protein_coding | 3029 | chr2 | TogoVar | |||||||
CDH15_chr16_89166748_89200492 | 89182111 | G | GCCCTCCC others(38): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 | 1 | 403 | 0.0025 | 45 | c.358 others(62): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH15_chr16_89166748_89200492 | 89182171 | C | CCCCTCCC others(38): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0028 | a0003c0028t0001 | a0003c0028t0001g0059 | 1 | 309 | 0.0032 | 45 | c.358 others(62): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH15_chr16_89166748_89200492 | 89182177 | C | CCCAAGCC others(38): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02280.hp2 NA18522.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0251 a0003c0003t0001g0260 a0003c0003t0001g0278 |
3 | 396 | 0.0076 | 45 | c.358 others(62): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH15_chr16_89166748_89200492 | 89182201 | G | GCCCTCTC others(38): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0209 | 1 | 269 | 0.0037 | 45 | c.358 others(62): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH18_chr5_19466296_19993200 | 19593696 | T | TTCCTCCT others(38): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 132 | 0.0076 | 45 | c.812 others(62): Show |
CDH18 | ENSG00000145526.12 | transcript | ENST00000382275.6 | protein_coding | 6/12 | chr5 | TogoVar | |||||||
CDH18_chr5_19466296_19993200 | 19593707 | C | CCTCCTCC others(38): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0022 | 1 | 6 | 0.1667 | 45 | c.812 others(62): Show |
CDH18 | ENSG00000145526.12 | transcript | ENST00000382275.6 | protein_coding | 6/12 | chr5 | TogoVar | |||||||
CDH18_chr5_19466296_19993200 | 19593707 | C | CCTCCTTC others(38): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0076 | 1 | 6 | 0.1667 | 45 | c.812 others(62): Show |
CDH18 | ENSG00000145526.12 | transcript | ENST00000382275.6 | protein_coding | 6/12 | chr5 | TogoVar | |||||||
CDH1_chr16_68732292_68840537 | 68745557 | T | TATATATA others(38): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 251 | 0.0040 | 45 | c.163 others(62): Show |
CDH1 | ENSG00000039068.20 | transcript | ENST00000261769.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH1_chr16_68732292_68840537 | 68745557 | T | TATATATA others(38): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02015.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0002g0168 a0001c0002t0001g0235 others(3): Show |
7 | 257 | 0.0272 | 45 | c.163 others(62): Show |
CDH1 | ENSG00000039068.20 | transcript | ENST00000261769.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH23_chr10_71391920_71820947 | 71495831 | A | AGGAAGGA others(38): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0061 | a0061c0131 | a0061c0131t0001 | a0061c0131t0001g0150 | 1 | 191 | 0.0052 | 45 | c.146 others(64): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 3/69 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61565080 | G | GTGGTGGT others(38): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0010 | 1 | 101 | 0.0099 | 45 | c.170 others(66): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61714023 | T | TTTATGTT others(38): Show |
intron_variant | MODIFIER | HG02145.hp2 NA18952.hp1 |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0014 | a0002c0002t0004g0022 a0002c0002t0014g0072 |
2 | 93 | 0.0215 | 45 | c.170 others(64): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH5_chr16_66361691_66409784 | 66379883 | A | ATGGTGGT others(38): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 348 | 0.0029 | 45 | c.210 others(60): Show |
CDH5 | ENSG00000179776.20 | transcript | ENST00000341529.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH5_chr16_66361691_66409784 | 66379928 | T | TTGGTGGT others(38): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 395 | 0.0025 | 45 | c.210 others(60): Show |
CDH5 | ENSG00000179776.20 | transcript | ENST00000341529.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH5_chr16_66361691_66409784 | 66379941 | C | CGGTGATG others(38): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00639.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0005t0001a0001c0005t0003others(2): Show | a0001c0001t0001g0292 a0001c0005t0001g0291 a0001c0005t0003g0106 others(16): Show |
24 | 304 | 0.0789 | 45 | c.210 others(60): Show |
CDH5 | ENSG00000179776.20 | transcript | ENST00000341529.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH5_chr16_66361691_66409784 | 66380031 | T | TGGTGATG others(38): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0171 | 1 | 358 | 0.0028 | 45 | c.210 others(60): Show |
CDH5 | ENSG00000179776.20 | transcript | ENST00000341529.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH5_chr16_66361691_66409784 | 66380076 | C | CGGTGATG others(38): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03453.hp1 |
a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0106 a0001c0005t0003g0107 |
2 | 397 | 0.0050 | 45 | c.210 others(60): Show |
CDH5 | ENSG00000179776.20 | transcript | ENST00000341529.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39197870 | A | ATTTGAAA others(38): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03453.hp2 HG03579.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0013 a0001c0003t0001g0015 a0001c0003t0001g0206 |
3 | 288 | 0.0104 | 45 | c.454 others(62): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 5/9 | chr2 | TogoVar | |||||||
CDKN2A_chr9_21962752_21979857 | 21971575 | A | ATTTTTTT others(38): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01361.hp1 HG01952.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 a0001c0001t0002g0088 |
3 | 69 | 0.0435 | 45 | c.151 others(60): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000304494.10 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21971575 | A | ATTTTTTT others(38): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01361.hp1 HG01952.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0294 a0001c0001t0002g0300 a0001c0001t0002g0318 |
3 | 64 | 0.0469 | 45 | c.194 others(60): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CELF2_chr10_11012872_11341675 | 11197025 | A | AAAGAAAG others(38): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 8 | 0.1250 | 45 | c.272 others(64): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46426129 | T | TGGGGAGG others(38): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02145.hp1 HG02258.hp2 others(6): Show |
a0001a0002a0006others(6): Show | a0001c0004a0002c0012a0006c0022others(6): Show | a0001c0004t0001a0002c0012t0003a0006c0022t0004others(6): Show | a0001c0004t0001g0032 a0002c0012t0003g0012 a0006c0022t0004g0039 others(6): Show |
9 | 85 | 0.1059 | 45 | c.461 others(64): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | TogoVar | |||||||
CELSR2_chr1_109244539_109280751 | 109245583 | A | AATCCCAC others(38): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0032 | a0001c0032t0028 | a0001c0032t0028g0102 | 1 | 354 | 0.0028 | 45 | c.-44 others(56): Show |
CELSR2 | ENSG00000143126.8 | transcript | ENST00000271332.4 | protein_coding | 3955 | chr1 | TogoVar | |||||||
CENPVL3_chrX_51612020_51623912 | 51621553 | T | TCTCCTTC others(38): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0000 | 1 | 296 | 0.0034 | 45 | c.-26 others(56): Show |
CENPVL3 | ENSG00000224109.4 | transcript | ENST00000417339.4 | protein_coding | 2642 | chrX | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65870065 | G | GAAAGAAA others(38): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0039 | 1 | 59 | 0.0169 | 45 | c.216 others(66): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80729058 | G | GTGTGTGT others(38): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0019 | a0001c0019t0002 | a0001c0019t0002g0123 | 1 | 46 | 0.0217 | 45 | c.280 others(66): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81212546 | T | TGTGCAGA others(38): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0024 | a0024c0035 | a0024c0035t0003 | a0024c0035t0003g0312 | 1 | 382 | 0.0026 | 45 | c.178 others(62): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 2/25 | chr17 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84174775 | T | TTCCTGTT others(38): Show |
disruptive_inframe_insertion | MODERATE | HG01074.hp2 HG01243.hp2 HG01257.hp2 others(11): Show |
a0003a0009 | a0003c0003a0003c0021a0009c0018 | a0003c0003t0001a0003c0003t0003a0003c0021t0003others(1): Show | a0003c0003t0001g0089 a0003c0003t0003g0041 a0003c0003t0003g0042 others(11): Show |
14 | 212 | 0.0660 | 45 | c.193 others(54): Show |
p.Glu others(58): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 15/27 | 2099/5155 | 1976/4212 | 659/1403 | chr6 | TogoVar | |||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGTGT others(38): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0019 | 1 | 117 | 0.0085 | 45 | c.232 others(64): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100466809 | C | CTCTCCCT others(38): Show |
intron_variant | MODIFIER | HG01074.hp2 HG03710.hp2 NA18951.hp1 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0002 | a0001c0001t0002g0015 a0001c0001t0002g0084 a0001c0001t0002g0093 others(2): Show |
5 | 347 | 0.0144 | 45 | c.845 others(62): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100466811 | C | CTCCCTCT others(38): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0298 | 1 | 299 | 0.0033 | 45 | c.845 others(62): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8214938 | C | CGAGGGGG others(38): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02451.hp2 HG03516.hp1 others(1): Show |
a0001a0002a0003others(1): Show | a0001c0008a0002c0003a0003c0007others(1): Show | a0001c0008t0001a0002c0003t0001a0003c0007t0010others(1): Show | a0001c0008t0001g0206 a0002c0003t0001g0205 a0003c0007t0010g0006 others(1): Show |
4 | 416 | 0.0096 | 45 | c.-2+ others(60): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75388599 | C | CATATATA others(38): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0094 | 1 | 29 | 0.0345 | 45 | c.128 others(62): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 12/16 | chr5 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132823295 | G | GTGCTGAT others(38): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0075 | a0075c0098 | a0075c0098t0002 | a0075c0098t0002g0023 | 1 | 244 | 0.0041 | 45 | c.711 others(64): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888564 | G | GCACCCCT others(38): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(31): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0030a0001c0032others(11): Show | a0001c0001t0002a0001c0030t0002a0001c0032t0002others(11): Show | a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0032 others(31): Show |
34 | 136 | 0.2500 | 45 | c.330 others(64): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888684 | A | ACCCCTGC others(38): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03486.hp1 HG03486.hp2 |
a0010a0022a0050 | a0010c0072a0022c0081a0050c0071 | a0010c0072t0002a0022c0081t0002a0050c0071t0002 | a0010c0072t0002g0004 a0022c0081t0002g0098 a0050c0071t0002g0003 |
3 | 214 | 0.0140 | 45 | c.330 others(64): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar |