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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1D_chr3_53489611_53818733 | 53691826 | C | CTATAATA others(18): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0129 | 1 | 208 | 0.0048 | 25 | c.122 others(46): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39596460 | A | AGGGCGGA others(18): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0206 | 1 | 234 | 0.0043 | 25 | c.237 others(42): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1S_chr1_201034512_201117426 | 201111922 | T | TCCTCCTC others(18): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(47): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(26): Show | a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0278 others(44): Show |
50 | 84 | 0.5952 | 25 | c.152 others(40): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82068642 | C | CCCAGACT others(18): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01891.hp1 HG02109.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0077 a0001c0001t0002g0097 a0001c0001t0006g0138 others(10): Show |
13 | 61 | 0.2131 | 25 | c.659 others(42): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 7/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82140954 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0089 | 1 | 84 | 0.0119 | 25 | c.355 others(42): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54687121 | C | CTTTTTCT others(18): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02965.hp1 HG03579.hp2 |
a0001 | a0001c0002a0001c0014a0001c0039 | a0001c0002t0001a0001c0014t0001a0001c0039t0001 | a0001c0002t0001g0070 a0001c0014t0001g0071 a0001c0039t0001g0047 |
3 | 56 | 0.0536 | 25 | c.116 others(46): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54822790 | C | CTTTTCTT others(18): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 64 | 0.0156 | 25 | c.139 others(44): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | chr3 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18307983 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03041.hp2 HG03540.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0003 | a0001c0002t0002a0001c0005t0011a0002c0003t0017 | a0001c0002t0002g0050 a0001c0002t0002g0060 a0001c0005t0011g0186 others(1): Show |
4 | 84 | 0.0476 | 25 | c.214 others(44): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18464418 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0105 | 1 | 66 | 0.0152 | 25 | c.334 others(44): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18464418 | T | TAAAATAA others(18): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG01978.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0001g0127 a0001c0001t0004g0153 a0001c0002t0002g0073 others(3): Show |
6 | 71 | 0.0845 | 25 | c.334 others(44): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18536243 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG03195.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0006a0001c0001t0039a0002c0003t0017 | a0001c0001t0006g0005 a0001c0001t0039g0021 a0002c0003t0017g0027 |
3 | 96 | 0.0313 | 25 | c.130 others(40): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18464418 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0045 | 1 | 98 | 0.0102 | 25 | c.172 others(44): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18464418 | T | TAAAATAA others(18): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01099.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0002a0001c0002t0006others(3): Show | a0001c0001t0001g0174 a0001c0002t0002g0009 a0001c0002t0002g0101 others(10): Show |
13 | 110 | 0.1182 | 25 | c.172 others(44): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18536243 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG03195.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0001c0001t0029a0002c0003t0018 | a0001c0001t0005g0188 a0001c0001t0029g0232 a0002c0003t0018g0104 |
3 | 142 | 0.0211 | 25 | c.114 others(40): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36703781 | C | CTCTCTCT others(18): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0104 | a0001c0001t0104g0207 | 1 | 207 | 0.0048 | 25 | c.-12 others(36): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 30 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36703801 | T | TCTCTCTC others(18): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0141 | 1 | 99 | 0.0101 | 25 | c.-12 others(36): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 50 | chr22 | TogoVar | |||||||
CACNG3_chr16_24251335_24367412 | 24317643 | A | AAAGAAAG others(18): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 344 | 0.0029 | 25 | c.212 others(44): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24317643 | A | AAAGAAAG others(18): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 344 | 0.0029 | 25 | c.212 others(44): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG6_chr19_53986637_54017666 | 54017628 | C | CTCTCTCT others(18): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG02970.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0002 | a0001c0001t0003g0046 a0001c0003t0002g0109 |
2 | 196 | 0.0102 | 25 | c.*54 others(36): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 4963 | chr19 | TogoVar | |||||||
CACNG7_chr19_53904278_53948950 | 53920759 | T | TCTGGTCA others(18): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 362 | 0.0028 | 25 | c.424 others(42): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53925583 | C | CCCCAGGC others(18): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 364 | 0.0027 | 25 | c.424 others(44): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACTIN_chr19_3605645_3631790 | 3611003 | C | CCTGATAT others(18): Show |
3_prime_UTR_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0001 | a0002c0001t0017 | a0002c0001t0017g0162 | 1 | 406 | 0.0025 | 25 | c.*89 others(34): Show |
CACTIN | ENSG00000105298.14 | transcript | ENST00000429344.7 | protein_coding | 10/10 | 919 | chr19 | TogoVar | ||||||
CADM1_chr11_115164236_115509415 | 115206758 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0006 | 1 | 4 | 0.2500 | 25 | c.107 others(44): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 8/11 | chr11 | TogoVar | |||||||
CADM1_chr11_115164236_115509415 | 115306072 | C | CACACACA others(18): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0075 | 1 | 52 | 0.0192 | 25 | c.125 others(44): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
CADM1_chr11_115164236_115509415 | 115340658 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0074 | 1 | 55 | 0.0182 | 25 | c.125 others(46): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
CADM1_chr11_115164236_115509415 | 115340658 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0073 | 1 | 55 | 0.0182 | 25 | c.125 others(46): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
CADM2_chr3_84953989_86079429 | 85034790 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0050 | a0001c0001t0020g0097 a0001c0001t0050g0107 |
2 | 77 | 0.0260 | 25 | c.61+ others(42): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85274063 | T | TCAAATAG others(18): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0086 | 1 | 146 | 0.0068 | 25 | c.61+ others(44): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85359666 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01515.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0099 a0001c0001t0003g0073 |
2 | 38 | 0.0526 | 25 | c.62- others(44): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85359666 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02015.hp2 HG02809.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0022a0001c0002t0046 | a0001c0001t0003g0062 a0001c0001t0022g0081 a0001c0002t0046g0139 |
3 | 39 | 0.0769 | 25 | c.62- others(44): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85359666 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0112 | 1 | 37 | 0.0270 | 25 | c.62- others(44): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85471687 | C | CATTTTAT others(18): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01361.hp2 HG01884.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0001g0049 a0001c0001t0004g0064 a0001c0001t0009g0037 others(5): Show |
8 | 40 | 0.2000 | 25 | c.62- others(44): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85637611 | A | AAAAATAA others(18): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG01261.hp1 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0031 a0001c0001t0001g0049 a0001c0001t0001g0079 others(36): Show |
39 | 113 | 0.3451 | 25 | c.62- others(42): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85855617 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0021g0126 others(1): Show |
4 | 131 | 0.0305 | 25 | c.239 others(44): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
CADM2_chr3_84953989_86079429 | 85898955 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0095 | 1 | 75 | 0.0133 | 25 | c.529 others(44): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85898955 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0133 | 1 | 75 | 0.0133 | 25 | c.529 others(44): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85898956 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0072 | 1 | 107 | 0.0093 | 25 | c.529 others(44): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 5/9 | chr3 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122315296 | T | TCTCTCTC others(18): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 NA18946.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0082 a0001c0004t0002g0049 |
2 | 109 | 0.0183 | 25 | c.*48 others(36): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 3114 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122315298 | T | TCTCTCTC others(18): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02723.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0107 a0001c0002t0002g0057 |
2 | 106 | 0.0189 | 25 | c.*48 others(36): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 3112 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122351372 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02132.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0001 | a0001c0001t0003g0037 a0001c0003t0001g0011 |
2 | 15 | 0.1333 | 25 | c.350 others(44): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 27/29 | chr7 | TogoVar | |||||||
CADPS_chr3_62393348_62880416 | 62648691 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03130.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0004t0001g0076 |
3 | 8 | 0.3750 | 25 | c.120 others(44): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 5/29 | chr3 | TogoVar | |||||||
CADPS_chr3_62393348_62880416 | 62731805 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01516.hp1 HG02970.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0001c0001t0007a0002c0008t0001 | a0001c0001t0001g0015 a0001c0001t0001g0072 a0001c0001t0001g0129 others(2): Show |
5 | 82 | 0.0610 | 25 | c.888 others(44): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 3/29 | chr3 | TogoVar | |||||||
CAGE1_chr6_7321659_7394742 | 7351530 | A | AAAAATAA others(18): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03516.hp1 |
a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0239 a0004c0005t0003g0241 |
2 | 173 | 0.0116 | 25 | c.236 others(44): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 11/13 | chr6 | TogoVar | |||||||
CALB2_chr16_71353723_71395433 | 71356943 | A | ATTTTTTT others(18): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG02165.hp2 NA18951.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0004 | a0001c0001t0002g0242 a0001c0001t0002g0247 a0002c0002t0004g0214 |
3 | 33 | 0.0909 | 25 | c.-18 others(36): Show |
CALB2 | ENSG00000172137.19 | transcript | ENST00000302628.9 | protein_coding | 1779 | chr16 | TogoVar | |||||||
CALB2_chr16_71353723_71395433 | 71366022 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02155.hp2 HG03688.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0076 a0001c0001t0001g0089 |
3 | 208 | 0.0144 | 25 | c.95- others(40): Show |
CALB2 | ENSG00000172137.19 | transcript | ENST00000302628.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CALB2_chr16_71353723_71395433 | 71366024 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0216 | 1 | 138 | 0.0072 | 25 | c.95- others(40): Show |
CALB2 | ENSG00000172137.19 | transcript | ENST00000302628.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48828526 | C | CGGTTCAC others(18): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0004 | a0004c0004 | a0004c0004t0019 | a0004c0004t0019g0099 | 1 | 326 | 0.0031 | 25 | c.-25 others(36): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 2508 | chr17 | TogoVar | |||||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0301 | 1 | 33 | 0.0303 | 25 | c.912 others(42): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0004 | a0004c0004 | a0004c0004t0010 | a0004c0004t0010g0096 | 1 | 33 | 0.0303 | 25 | c.912 others(42): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0203 | 1 | 33 | 0.0303 | 25 | c.912 others(42): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |