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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CMIP_chr16_81439808_81716762 | 81640770 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0040a0001c0001t0046 | a0001c0001t0040g0243 a0001c0001t0046g0180 |
2 | 268 | 0.0075 | 20 | c.478 others(39): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81640770 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 a0001c0001t0001g0145 a0001c0001t0001g0261 others(2): Show |
5 | 268 | 0.0187 | 20 | c.478 others(39): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMPK1_chr1_47328790_47383839 | 47336138 | G | GAAATAAA others(13): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02896.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0226 a0001c0001t0012g0235 a0001c0001t0012g0274 |
3 | 364 | 0.0082 | 20 | c.171 others(37): Show |
CMPK1 | ENSG00000162368.15 | transcript | ENST00000371873.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CMPK1_chr1_47328790_47383839 | 47338517 | C | CTCCCTCC others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(109): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0005others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(4): Show | a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0088 others(98): Show |
112 | 364 | 0.3077 | 20 | c.171 others(37): Show |
CMPK1 | ENSG00000162368.15 | transcript | ENST00000371873.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CMPK1_chr1_47328790_47383839 | 47338547 | C | CCCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02132.hp1 NA19074.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0206 a0002c0002t0001g0207 |
2 | 364 | 0.0055 | 20 | c.171 others(37): Show |
CMPK1 | ENSG00000162368.15 | transcript | ENST00000371873.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CMPK1_chr1_47328790_47383839 | 47380250 | G | GTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0087 | 1 | 364 | 0.0028 | 20 | c.*35 others(31): Show |
CMPK1 | ENSG00000162368.15 | transcript | ENST00000371873.10 | protein_coding | 1412 | chr1 | TogoVar | |||||||
CMSS1_chr3_99812862_100186732 | 99957693 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 |
3 | 232 | 0.0129 | 20 | c.64+ others(39): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 99983389 | A | AATATGTA others(13): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01934.hp2 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0153 |
3 | 232 | 0.0129 | 20 | c.65- others(39): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 99984048 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01192.hp1 HG01256.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0031 a0001c0001t0001g0161 a0001c0001t0001g0165 others(31): Show |
34 | 232 | 0.1466 | 20 | c.65- others(39): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 99984062 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 a0001c0001t0002g0045 |
2 | 232 | 0.0086 | 20 | c.65- others(39): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 100021960 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 232 | 0.0043 | 20 | c.65- others(39): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM2_chr16_66574463_66593275 | 66589828 | T | TAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 NA18963.hp1 NA18970.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 3 | 410 | 0.0073 | 20 | c.*17 others(31): Show |
CMTM2 | ENSG00000140932.10 | transcript | ENST00000268595.3 | protein_coding | 1554 | chr16 | TogoVar | |||||||
CMTM4_chr16_66609750_66701743 | 66696662 | G | GCCGCCTC others(13): Show |
5_prime_UTR_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0003 | a0001c0003t0044 | a0001c0003t0044g0318 | 1 | 320 | 0.0031 | 20 | c.-15 others(29): Show |
CMTM4 | ENSG00000183723.13 | transcript | ENST00000394106.7 | protein_coding | 1/4 | 138 | chr16 | TogoVar | ||||||
CMTM6_chr3_32476312_32507852 | 32477706 | C | CAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 HG03486.hp2 HG03688.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0002g0058 others(1): Show |
5 | 384 | 0.0130 | 20 | c.*62 others(31): Show |
CMTM6 | ENSG00000091317.8 | transcript | ENST00000205636.4 | protein_coding | 3605 | chr3 | TogoVar | |||||||
CMTM7_chr3_32386853_32460528 | 32392245 | G | GCCCCCGC others(13): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(72): Show |
78 | 368 | 0.2120 | 20 | c.159 others(35): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM7_chr3_32386853_32460528 | 32430681 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00741.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0076 a0001c0001t0001g0079 others(17): Show |
21 | 368 | 0.0571 | 20 | c.160 others(39): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM7_chr3_32386853_32460528 | 32430714 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01496.hp1 HG03209.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0002g0336 others(2): Show |
5 | 368 | 0.0136 | 20 | c.160 others(39): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM7_chr3_32386853_32460528 | 32457633 | G | GAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 368 | 0.0027 | 20 | c.*33 others(31): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 2106 | chr3 | TogoVar | |||||||
CMTM8_chr3_32233680_32375321 | 32273129 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02293.hp2 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0136 a0001c0001t0001g0244 |
3 | 344 | 0.0087 | 20 | c.147 others(39): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32295455 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0167 a0001c0001t0002g0224 |
2 | 344 | 0.0058 | 20 | c.147 others(39): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 344 | 0.0029 | 20 | c.148 others(39): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01070.hp1 HG01071.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0052 a0001c0001t0001g0078 a0001c0001t0001g0095 others(4): Show |
7 | 344 | 0.0204 | 20 | c.148 others(39): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02083.hp2 HG02559.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0228 others(4): Show |
7 | 344 | 0.0204 | 20 | c.148 others(39): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00639.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0031 a0001c0001t0001g0051 a0001c0001t0001g0097 others(5): Show |
8 | 344 | 0.0233 | 20 | c.148 others(39): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 a0001c0001t0001g0315 a0001c0001t0001g0316 |
3 | 344 | 0.0087 | 20 | c.148 others(39): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32361286 | G | GTTTGTTT others(13): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 344 | 0.0029 | 20 | c.321 others(37): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32361286 | G | GTTTGTTT others(13): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 344 | 0.0029 | 20 | c.321 others(37): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32361286 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00741.hp1 others(60): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 others(60): Show |
63 | 344 | 0.1831 | 20 | c.321 others(37): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32361286 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02523.hp2 HG02723.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0073 others(8): Show |
11 | 344 | 0.0320 | 20 | c.321 others(37): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32361289 | T | TTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02258.hp1 HG03098.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0004t0001 | a0001c0001t0001g0009 a0001c0001t0001g0095 a0001c0001t0001g0172 others(3): Show |
6 | 344 | 0.0174 | 20 | c.321 others(37): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32361291 | T | TTTTTTGT others(13): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 344 | 0.0029 | 20 | c.321 others(37): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTR1_chr6_37428221_37486508 | 37449263 | T | TTTATGTT others(13): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 358 | 0.0028 | 20 | c.445 others(35): Show |
CMTR1 | ENSG00000137200.13 | transcript | ENST00000373451.9 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CMTR1_chr6_37428221_37486508 | 37449271 | T | TTGTTATG others(13): Show |
intron_variant | MODIFIER | HG01256.hp2 HG02109.hp2 HG02293.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0178 a0001c0001t0002g0032 a0001c0001t0002g0036 others(9): Show |
14 | 358 | 0.0391 | 20 | c.445 others(35): Show |
CMTR1 | ENSG00000137200.13 | transcript | ENST00000373451.9 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CMTR2_chr16_71276392_71294402 | 71289650 | G | GGAGGGGG others(13): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0004 | a0004c0005 | a0004c0005t0006 | a0004c0005t0006g0024 | 1 | 437 | 0.0023 | 20 | c.-59 others(29): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 249 | chr16 | TogoVar | |||||||
CMYA5_chr5_79684836_79805222 | 79688942 | C | CAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0086 | a0086c0067 | a0086c0067t0005 | a0086c0067t0005g0037 | 1 | 358 | 0.0028 | 20 | c.-96 others(29): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 893 | chr5 | TogoVar | |||||||
CMYA5_chr5_79684836_79805222 | 79726909 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0037 | a0037c0046 | a0037c0046t0001 | a0037c0046t0001g0186 | 1 | 358 | 0.0028 | 20 | c.150 others(37): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79778811 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | NA19056.hp1 NA20905.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0292 a0002c0002t0001g0043 |
2 | 358 | 0.0056 | 20 | c.115 others(43): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79778813 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02809.hp2 HG02922.hp2 |
a0021a0031a0049 | a0021c0024a0031c0037a0049c0072 | a0021c0024t0017a0031c0037t0011a0049c0072t0002 | a0021c0024t0017g0355 a0031c0037t0011g0319 a0049c0072t0002g0191 |
3 | 358 | 0.0084 | 20 | c.115 others(43): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 86940132 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0078 |
2 | 152 | 0.0132 | 20 | c.431 others(35): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87129069 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG00741.hp2 others(6): Show |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0001a0007c0011t0001 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 others(6): Show |
9 | 152 | 0.0592 | 20 | c.432 others(39): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87136769 | T | TTTATATT others(13): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 152 | 0.0066 | 20 | c.432 others(39): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87368161 | A | AAAAAGAA others(13): Show |
intron_variant | MODIFIER | HG03486.hp1 NA18906.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0015 a0004c0004t0001g0068 |
2 | 152 | 0.0132 | 20 | c.130 others(41): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD2_chr20_35963590_36035700 | 36007189 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0009 | a0009c0020 | a0009c0020t0002 | a0009c0020t0002g0125 | 1 | 268 | 0.0037 | 20 | c.971 others(37): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129172695 | G | GACACACA others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 430 | 0.0023 | 20 | c.-14 others(35): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
CNBP_chr3_129162827_129188896 | 129181649 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02056.hp2 HG02129.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0009 | a0001c0002t0005g0356 a0001c0002t0005g0357 a0001c0002t0005g0358 others(1): Show |
4 | 430 | 0.0093 | 20 | c.-15 others(37): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
CNDP1_chr18_74529500_74592212 | 74573432 | C | CCATTCAT others(13): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0133 | 1 | 390 | 0.0026 | 20 | c.841 others(37): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 7/11 | chr18 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57879796 | T | TTTCCTTC others(13): Show |
downstream_gene_variant | MODIFIER | NA18954.hp1 NA18962.hp2 |
a0001a0002 | a0001c0018a0002c0005 | a0001c0018t0002a0002c0005t0002 | a0001c0018t0002g0254 a0002c0005t0002g0320 |
2 | 360 | 0.0056 | 20 | c.*43 others(31): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2543 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57885557 | C | CCTCTCTC others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02738.hp2 HG02895.hp2 others(7): Show |
a0001a0004a0010others(3): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(6): Show | a0001c0001t0001g0262 a0001c0001t0003g0208 a0001c0002t0002g0157 others(7): Show |
10 | 360 | 0.0278 | 20 | c.346 others(39): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 32/32 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57973399 | A | ATGCGCGT others(13): Show |
upstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 360 | 0.0028 | 20 | c.-23 others(31): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2272 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57973399 | A | ATGTGCAT others(13): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00733.hp1 others(15): Show |
a0001a0003a0044others(1): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0236 a0001c0001t0002g0238 a0001c0001t0002g0273 others(15): Show |
18 | 360 | 0.0500 | 20 | c.-23 others(31): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2272 | chr16 | TogoVar |