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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLYBL_chr13_99601690_99897570 | 99783771 | GAAACTTT others(4): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00673.hp1 others(60): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(60): Show | 63 | 218 | 0.2890 | -11 | c.249 others(30): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99855131 | CCATTATT others(4): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(69): Show |
a0001a0002a0006 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0009t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(69): Show | 72 | 218 | 0.3303 | -11 | c.250 others(28): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CMA1_chr14_24500353_24513265 | 24505207 | CATACACA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 432 | 0.0023 | -11 | c.*29 others(20): Show |
CMA1 | ENSG00000092009.10 | transcript | ENST00000250378.7 | protein_coding | 145 | chr14 | TogoVar | ||||||
CMA1_chr14_24500353_24513265 | 24505244 | ACACACAC others(4): Show |
A | downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 432 | 0.0023 | -11 | c.*26 others(20): Show |
CMA1 | ENSG00000092009.10 | transcript | ENST00000250378.7 | protein_coding | 108 | chr14 | TogoVar | ||||||
CMAS_chr12_22041218_22070668 | 22041945 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02615.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0023a0001c0001t0001g0134a0001c0001t0001g0210others(1): Show | 4 | 450 | 0.0089 | -11 | c.-43 others(22): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 4272 | chr12 | TogoVar | ||||||
CMAS_chr12_22041218_22070668 | 22041972 | AAAAAAAA others(4): Show |
A | upstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 450 | 0.0022 | -11 | c.-43 others(22): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 4245 | chr12 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965199 | AAACATAT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG03831.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195a0001c0001t0001g0207 | 2 | 408 | 0.0049 | -11 | c.*10 others(24): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1248 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965201 | ACATATAT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0146 | 1 | 408 | 0.0025 | -11 | c.*10 others(24): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1246 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 81008262 | TTTTAAAA others(4): Show |
T | upstream_gene_variant | MODIFIER | NA18954.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0010 | 1 | 408 | 0.0025 | -11 | c.-15 others(22): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1378 | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81629134 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0008 | a0001c0008t0013 | a0001c0008t0013g0177 | 1 | 268 | 0.0037 | -11 | c.477 others(28): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81648784 | GAAAAAAA others(4): Show |
G | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0241 | 1 | 268 | 0.0037 | -11 | c.478 others(28): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81656555 | AGCCGTCT others(4): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254a0001c0001t0001g0255 | 2 | 268 | 0.0075 | -11 | c.640 others(28): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 4/20 | chr16 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206172742 | AGGGAGAG others(4): Show |
A | downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 322 | 0.0031 | -11 | c.*34 others(22): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2573 | chr2 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206179055 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0254 | 1 | 322 | 0.0031 | -11 | c.-28 others(28): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206207728 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0218 | 1 | 322 | 0.0031 | -11 | c.-29 others(28): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 99840221 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01934.hp2 HG01978.hp2 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063a0001c0001t0002g0064a0001c0001t0002g0065 | 3 | 232 | 0.0129 | -11 | c.64+ others(28): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 100062093 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03490.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0151a0001c0001t0004g0025 | 2 | 232 | 0.0086 | -11 | c.65- others(28): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 100074675 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG02027.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0102others(15): Show | 18 | 232 | 0.0776 | -11 | c.65- others(28): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 100091284 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02809.hp2 HG03041.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0009a0001c0001t0009g0010a0001c0001t0009g0040 | 3 | 232 | 0.0129 | -11 | c.65- others(28): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 100094674 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015 | 1 | 232 | 0.0043 | -11 | c.65- others(28): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 100153838 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0012 | 1 | 232 | 0.0043 | -11 | c.154 others(28): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM2_chr16_66574463_66593275 | 66575231 | GGCAGATA others(4): Show |
G | upstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 410 | 0.0024 | -11 | c.-43 others(22): Show |
CMTM2 | ENSG00000140932.10 | transcript | ENST00000268595.3 | protein_coding | 4231 | chr16 | TogoVar | ||||||
CMTM4_chr16_66609750_66701743 | 66663527 | ATTTGCTT others(4): Show |
A | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 320 | 0.0031 | -11 | c.187 others(30): Show |
CMTM4 | ENSG00000183723.13 | transcript | ENST00000394106.7 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
CMTM4_chr16_66609750_66701743 | 66670451 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 320 | 0.0031 | -11 | c.186 others(30): Show |
CMTM4 | ENSG00000183723.13 | transcript | ENST00000394106.7 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
CMTM4_chr16_66609750_66701743 | 66676229 | ATACTTGC others(4): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG00733.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0024others(2): Show | a0001c0001t0003g0002a0001c0001t0003g0210a0001c0001t0003g0250others(28): Show | 32 | 320 | 0.1000 | -11 | c.186 others(30): Show |
CMTM4 | ENSG00000183723.13 | transcript | ENST00000394106.7 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
CMTM4_chr16_66609750_66701743 | 66694712 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 320 | 0.0031 | -11 | c.186 others(28): Show |
CMTM4 | ENSG00000183723.13 | transcript | ENST00000394106.7 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
CMTM6_chr3_32476312_32507852 | 32501093 | GGCACGAG others(4): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG02630.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0036 | a0001c0001t0011g0208a0001c0001t0011g0209a0001c0001t0011g0211others(3): Show | 6 | 384 | 0.0156 | -11 | c.138 others(28): Show |
CMTM6 | ENSG00000091317.8 | transcript | ENST00000205636.4 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
CMTM7_chr3_32386853_32460528 | 32416361 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271a0001c0001t0001g0272a0001c0001t0001g0273others(3): Show | 6 | 368 | 0.0163 | -11 | c.159 others(30): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM7_chr3_32386853_32460528 | 32448781 | GAAAAAAA others(4): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 368 | 0.0027 | -11 | c.334 others(26): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM8_chr3_32233680_32375321 | 32297476 | GGCCTGTA others(4): Show |
G | intron_variant | MODIFIER | HG02922.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080a0001c0001t0001g0167 | 2 | 344 | 0.0058 | -11 | c.147 others(30): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32316800 | TTTAGAAA others(4): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG02922.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0080a0001c0001t0001g0167others(1): Show | 4 | 344 | 0.0116 | -11 | c.148 others(30): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM8_chr3_32233680_32375321 | 32318055 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02257.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(14): Show | 17 | 344 | 0.0494 | -11 | c.148 others(30): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM8_chr3_32233680_32375321 | 32374304 | GTGTGGAG others(4): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 344 | 0.0029 | -11 | c.*43 others(22): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 3984 | chr3 | TogoVar | ||||||
CMTR1_chr6_37428221_37486508 | 37445751 | CCAAAGTG others(4): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG02293.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036a0001c0001t0002g0234 | 3 | 358 | 0.0084 | -11 | c.286 others(26): Show |
CMTR1 | ENSG00000137200.13 | transcript | ENST00000373451.9 | protein_coding | 3/23 | chr6 | TogoVar | ||||||
CMTR2_chr16_71276392_71294402 | 71291480 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(135): Show |
a0002a0005a0009others(2): Show | a0002c0002a0002c0012a0005c0006others(3): Show | a0002c0002t0001a0002c0002t0010a0002c0002t0020others(9): Show | a0002c0002t0001g0001a0002c0002t0001g0012a0002c0002t0001g0014others(17): Show | 138 | 437 | 0.3158 | -11 | c.-24 others(22): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 2079 | chr16 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 86943365 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG02886.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0003g0134 | 3 | 152 | 0.0197 | -11 | c.431 others(28): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86951581 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02897.hp1 NA18522.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0103a0001c0001t0001g0104 | 3 | 152 | 0.0197 | -11 | c.431 others(30): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87256002 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG03225.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0003c0004t0001 | a0001c0001t0003g0134a0003c0004t0001g0145 | 2 | 152 | 0.0132 | -11 | c.771 others(30): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87256004 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 152 | 0.0066 | -11 | c.771 others(30): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87256011 | ATATATTT others(4): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 152 | 0.0066 | -11 | c.771 others(30): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87297163 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG03516.hp1 |
a0005a0007 | a0005c0007a0007c0010 | a0005c0007t0002a0007c0010t0002 | a0005c0007t0002g0144a0007c0010t0002g0072 | 2 | 152 | 0.0132 | -11 | c.104 others(32): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD2_chr20_35963590_36035700 | 35998874 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225a0001c0001t0001g0226 | 2 | 268 | 0.0075 | -11 | c.970 others(28): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNBD2_chr20_35963590_36035700 | 36020081 | CTTTTTCT others(4): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG02922.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0068a0002c0002t0002g0069a0002c0002t0002g0070others(6): Show | 9 | 268 | 0.0336 | -11 | c.127 others(30): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNBD2_chr20_35963590_36035700 | 36033385 | GGCTAGAA others(4): Show |
G | downstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 268 | 0.0037 | -11 | c.*27 others(22): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 2686 | chr20 | TogoVar | ||||||
CNBD2_chr20_35963590_36035700 | 36033507 | ATTTTTTT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(106): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0009a0002c0002others(6): Show | a0001c0001t0001a0001c0009t0001a0002c0002t0001others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0011others(101): Show | 109 | 268 | 0.4067 | -11 | c.*28 others(22): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 2808 | chr20 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129164210 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02970.hp1 HG03516.hp1 HG03942.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0013a0001c0002t0027others(1): Show | a0001c0002t0005g0317a0001c0002t0005g0348a0001c0002t0005g0365others(3): Show | 6 | 430 | 0.0140 | -11 | c.*62 others(22): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 3616 | chr3 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74544717 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01243.hp1 others(4): Show |
a0001a0002a0007others(2): Show | a0001c0002a0002c0004a0007c0012others(2): Show | a0001c0002t0004a0002c0004t0001a0002c0004t0007others(4): Show | a0001c0002t0004g0018a0002c0004t0001g0064a0002c0004t0007g0008others(4): Show | 7 | 390 | 0.0180 | -11 | c.24+ others(28): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNGA1_chr4_47930977_48021681 | 47938176 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204a0001c0001t0001g0205a0001c0001t0001g0206others(1): Show | 4 | 366 | 0.0109 | -11 | c.653 others(26): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 10/10 | chr4 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 48001998 | AACATTAT others(4): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00621.hp1 others(71): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0204a0001c0001t0001g0205a0001c0001t0001g0206others(66): Show | 74 | 366 | 0.2022 | -11 | c.-12 others(30): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 2/10 | chr4 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 48012558 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00621.hp1 others(31): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0213a0001c0001t0001g0217others(30): Show | 34 | 366 | 0.0929 | -11 | c.-22 others(30): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 1/10 | chr4 | TogoVar |