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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SKIL_chr3_170352715_170401835 | 170400761 | C | CTTTCTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0314 | 1 | 362 | 0.0028 | 18 | c.*83 others(29): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 3927 | chr3 | TogoVar | |||||||
SKIL_chr3_170352715_170401835 | 170400778 | T | TTTCTTTC others(11): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0296 | 1 | 362 | 0.0028 | 18 | c.*83 others(29): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 3944 | chr3 | TogoVar | |||||||
SKI_chr1_2223319_2315213 | 2271586 | G | GACGCTCG others(11): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0011 | a0001c0011t0039 | a0001c0011t0039g0071 | 1 | 330 | 0.0030 | 18 | c.970 others(37): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2277796 | G | GCGCACAC others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0010 | a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0009g0095 others(2): Show |
5 | 330 | 0.0152 | 18 | c.970 others(37): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2309114 | G | GCCTGTGC others(11): Show |
3_prime_UTR_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0319 | 1 | 330 | 0.0030 | 18 | c.*23 others(29): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 7/7 | 2350 | chr1 | TogoVar | ||||||
SKOR2_chr18_47201169_47256660 | 47245478 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03195.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0049 a0001c0003t0001g0032 |
2 | 344 | 0.0058 | 18 | c.267 others(33): Show |
SKOR2 | ENSG00000215474.8 | transcript | ENST00000425639.3 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
SLA2_chr20_36607318_36651196 | 36609156 | T | TACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 NA18987.hp1 NA18995.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0086 a0001c0001t0001g0105 a0001c0001t0003g0004 others(2): Show |
5 | 360 | 0.0139 | 18 | c.*46 others(29): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 3161 | chr20 | TogoVar | |||||||
SLA2_chr20_36607318_36651196 | 36609156 | T | TACATACA others(11): Show |
downstream_gene_variant | MODIFIER | NA18951.hp2 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 a0001c0001t0001g0325 |
2 | 360 | 0.0056 | 18 | c.*47 others(29): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 3161 | chr20 | TogoVar | |||||||
SLA2_chr20_36607318_36651196 | 36609156 | T | TACATACA others(11): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 360 | 0.0028 | 18 | c.*47 others(29): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 3161 | chr20 | TogoVar | |||||||
SLA2_chr20_36607318_36651196 | 36609156 | T | TACATACA others(11): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 NA19010.hp1 NA19058.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0217 a0001c0001t0001g0253 others(1): Show |
4 | 360 | 0.0111 | 18 | c.*47 others(29): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 3161 | chr20 | TogoVar | |||||||
SLAIN2_chr4_48336529_48431201 | 48368051 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01361.hp2 HG01517.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0027a0001c0002t0005others(1): Show | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0068 others(7): Show |
10 | 348 | 0.0287 | 18 | c.390 others(35): Show |
SLAIN2 | ENSG00000109171.15 | transcript | ENST00000264313.11 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLAMF1_chr1_160603106_160652044 | 160621855 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03453.hp2 |
a0001a0004 | a0001c0004a0004c0006 | a0001c0004t0005a0004c0006t0003 | a0001c0004t0005g0259 a0004c0006t0003g0360 |
2 | 420 | 0.0048 | 18 | c.791 others(35): Show |
SLAMF1 | ENSG00000117090.16 | transcript | ENST00000302035.11 | protein_coding | 4/6 | chr1 | TogoVar | |||||||
SLAMF1_chr1_160603106_160652044 | 160640325 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0040 | 1 | 420 | 0.0024 | 18 | c.77- others(33): Show |
SLAMF1 | ENSG00000117090.16 | transcript | ENST00000302035.11 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
SLAMF1_chr1_160603106_160652044 | 160640359 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | NA18959.hp1 NA18966.hp1 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0008 a0001c0001t0009g0220 |
3 | 420 | 0.0071 | 18 | c.77- others(33): Show |
SLAMF1 | ENSG00000117090.16 | transcript | ENST00000302035.11 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
SLAMF6_chr1_160480036_160528255 | 160484211 | T | TTATATAT others(11): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 394 | 0.0025 | 18 | c.*24 others(29): Show |
SLAMF6 | ENSG00000162739.14 | transcript | ENST00000368057.8 | protein_coding | 824 | chr1 | TogoVar | |||||||
SLAMF6_chr1_160480036_160528255 | 160484243 | A | ATATATAT others(11): Show |
downstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 394 | 0.0025 | 18 | c.*24 others(29): Show |
SLAMF6 | ENSG00000162739.14 | transcript | ENST00000368057.8 | protein_coding | 792 | chr1 | TogoVar | |||||||
SLAMF6_chr1_160480036_160528255 | 160484243 | A | ATATATAT others(11): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG01361.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0036 a0001c0001t0006g0109 |
2 | 394 | 0.0051 | 18 | c.*24 others(29): Show |
SLAMF6 | ENSG00000162739.14 | transcript | ENST00000368057.8 | protein_coding | 792 | chr1 | TogoVar | |||||||
SLAMF6_chr1_160480036_160528255 | 160484243 | A | ATATATAT others(11): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG01071.hp1 HG01258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0021 others(1): Show |
4 | 394 | 0.0102 | 18 | c.*24 others(29): Show |
SLAMF6 | ENSG00000162739.14 | transcript | ENST00000368057.8 | protein_coding | 792 | chr1 | TogoVar | |||||||
SLAMF9_chr1_159946492_159959237 | 159946811 | T | TCCCGGAG others(11): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | 18 | c.*48 others(29): Show |
SLAMF9 | ENSG00000162723.10 | transcript | ENST00000368093.4 | protein_coding | 4680 | chr1 | TogoVar | |||||||
SLA_chr8_133031728_133107602 | 133093141 | T | TTTCTTTT others(11): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02809.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0021a0002c0002t0002 | a0001c0001t0021g0105 a0002c0002t0002g0080 |
2 | 344 | 0.0058 | 18 | c.-31 others(37): Show |
SLA | ENSG00000155926.14 | transcript | ENST00000338087.10 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
SLC10A6_chr4_86818468_86854384 | 86837221 | G | GAAAGAAA others(11): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 350 | 0.0029 | 18 | c.378 others(35): Show |
SLC10A6 | ENSG00000145283.8 | transcript | ENST00000273905.7 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
SLC10A6_chr4_86818468_86854384 | 86837225 | G | GAAAGAAA others(11): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 350 | 0.0029 | 18 | c.378 others(35): Show |
SLC10A6 | ENSG00000145283.8 | transcript | ENST00000273905.7 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
SLC10A6_chr4_86818468_86854384 | 86837225 | G | GAGAGAAA others(11): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02723.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0003c0005t0001 | a0001c0001t0002g0314 a0003c0005t0001g0271 |
2 | 350 | 0.0057 | 18 | c.378 others(35): Show |
SLC10A6 | ENSG00000145283.8 | transcript | ENST00000273905.7 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
SLC10A6_chr4_86818468_86854384 | 86837285 | A | AAGAAAGA others(11): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 350 | 0.0029 | 18 | c.378 others(35): Show |
SLC10A6 | ENSG00000145283.8 | transcript | ENST00000273905.7 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
SLC11A1_chr2_218377273_218401894 | 218389104 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0033 a0001c0004t0003g0102 a0001c0004t0003g0103 |
4 | 376 | 0.0106 | 18 | c.796 others(33): Show |
SLC11A1 | ENSG00000018280.17 | transcript | ENST00000233202.11 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC11A2_chr12_50980992_51031384 | 50993992 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0070 | 1 | 370 | 0.0027 | 18 | c.107 others(35): Show |
SLC11A2 | ENSG00000110911.17 | transcript | ENST00000262052.9 | protein_coding | 11/15 | chr12 | TogoVar | |||||||
SLC12A1_chr15_48201302_48309078 | 48240052 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0059 | 1 | 266 | 0.0038 | 18 | c.121 others(37): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A1_chr15_48201302_48309078 | 48250673 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01257.hp2 HG01934.hp1 others(4): Show |
a0001a0008 | a0001c0001a0008c0012 | a0001c0001t0001a0008c0012t0001 | a0001c0001t0001g0061 a0001c0001t0001g0143 a0001c0001t0001g0150 others(4): Show |
7 | 266 | 0.0263 | 18 | c.178 others(35): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 14/26 | chr15 | TogoVar | |||||||
SLC12A1_chr15_48201302_48309078 | 48250676 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02148.hp1 HG02258.hp2 others(6): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0010 a0001c0001t0002g0062 a0001c0001t0002g0093 others(6): Show |
9 | 266 | 0.0338 | 18 | c.178 others(35): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A2_chr5_128078766_128194677 | 128088007 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01123.hp1 HG01175.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0164 a0001c0001t0002g0310 a0001c0001t0002g0311 others(17): Show |
20 | 354 | 0.0565 | 18 | c.756 others(35): Show |
SLC12A2 | ENSG00000064651.14 | transcript | ENST00000262461.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLC12A2_chr5_128078766_128194677 | 128126971 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0003 | a0001c0003t0016a0001c0003t0017 | a0001c0003t0016g0115 a0001c0003t0017g0114 |
2 | 354 | 0.0057 | 18 | c.104 others(37): Show |
SLC12A2 | ENSG00000064651.14 | transcript | ENST00000262461.7 | protein_coding | 4/26 | chr5 | TogoVar | |||||||
SLC12A3_chr16_56860207_56920850 | 56887772 | T | TTTTATAT others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 NA20129.hp1 |
a0001a0004 | a0001c0003a0004c0048 | a0001c0003t0005a0004c0048t0006 | a0001c0003t0005g0391 a0004c0048t0006g0164 |
2 | 420 | 0.0048 | 18 | c.217 others(35): Show |
SLC12A3 | ENSG00000070915.10 | transcript | ENST00000563236.6 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC12A3_chr16_56860207_56920850 | 56887798 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0027 | a0001c0027t0003 | a0001c0027t0003g0063 | 1 | 420 | 0.0024 | 18 | c.217 others(35): Show |
SLC12A3 | ENSG00000070915.10 | transcript | ENST00000563236.6 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC12A6_chr15_34224784_34342781 | 34271602 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01109.hp2 NA18943.hp2 others(1): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0002t0048a0001c0006t0001 | a0001c0002t0002g0207 a0001c0002t0002g0247 a0001c0002t0048g0234 others(1): Show |
4 | 274 | 0.0146 | 18 | c.316 others(35): Show |
SLC12A6 | ENSG00000140199.13 | transcript | ENST00000354181.8 | protein_coding | 3/25 | chr15 | TogoVar | |||||||
SLC12A6_chr15_34224784_34342781 | 34310245 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0032 a0001c0001t0005g0033 |
2 | 274 | 0.0073 | 18 | c.271 others(37): Show |
SLC12A6 | ENSG00000140199.13 | transcript | ENST00000354181.8 | protein_coding | 2/25 | chr15 | TogoVar | |||||||
SLC12A6_chr15_34224784_34342781 | 34310414 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0003 | a0001c0003t0030 | a0001c0003t0030g0006 | 1 | 274 | 0.0037 | 18 | c.271 others(37): Show |
SLC12A6 | ENSG00000140199.13 | transcript | ENST00000354181.8 | protein_coding | 2/25 | chr15 | TogoVar | |||||||
SLC12A6_chr15_34224784_34342781 | 34323940 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02630.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0004t0003 | a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 others(6): Show |
9 | 274 | 0.0329 | 18 | c.271 others(37): Show |
SLC12A6 | ENSG00000140199.13 | transcript | ENST00000354181.8 | protein_coding | 2/25 | chr15 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1061070 | G | GTGCGGGA others(11): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0031 | a0001c0031t0003 | a0001c0031t0003g0007 | 1 | 118 | 0.0085 | 18 | c.274 others(35): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 20/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1061160 | G | GCACCTGC others(11): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03098.hp2 |
a0001a0006 | a0001c0005a0006c0019 | a0001c0005t0009a0006c0019t0009 | a0001c0005t0009g0003 a0006c0019t0009g0013 |
2 | 118 | 0.0170 | 18 | c.274 others(35): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 20/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1061160 | G | GTACCTGC others(11): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03516.hp1 HG03579.hp2 others(2): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0005 | a0001c0001t0001g0095 a0001c0010t0005g0009 a0001c0010t0005g0024 others(2): Show |
5 | 118 | 0.0424 | 18 | c.274 others(35): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 20/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1061322 | G | GCACCTGC others(11): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0026 | a0002c0026t0004 | a0002c0026t0004g0086 | 1 | 118 | 0.0085 | 18 | c.274 others(35): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 20/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1061322 | G | GTACCTGC others(11): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02723.hp1 HG02965.hp2 |
a0001a0004a0005 | a0001c0003a0004c0033a0005c0037 | a0001c0003t0003a0004c0033t0004a0005c0037t0003 | a0001c0003t0003g0005 a0004c0033t0004g0072 a0005c0037t0003g0008 |
3 | 118 | 0.0254 | 18 | c.274 others(35): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 20/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1095021 | G | GCGGTAGG others(11): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02155.hp2 HG02273.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0018a0001c0006t0001others(10): Show | a0001c0001t0001g0011 a0001c0001t0001g0095 a0001c0001t0001g0108 others(18): Show |
21 | 118 | 0.1780 | 18 | c.125 others(33): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1095022 | C | CGGTAGGA others(11): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0009 | a0001c0009t0006 | a0001c0009t0006g0017 | 1 | 118 | 0.0085 | 18 | c.125 others(33): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1095064 | G | GGCGGGGC others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01106.hp2 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0023a0001c0003t0003others(8): Show | a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0039 others(21): Show |
24 | 118 | 0.2034 | 18 | c.125 others(33): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1108029 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02895.hp2 |
a0001a0004 | a0001c0029a0004c0033 | a0001c0029t0007a0004c0033t0004 | a0001c0029t0007g0012 a0004c0033t0004g0072 |
2 | 118 | 0.0170 | 18 | c.124 others(35): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125208824 | A | AGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0107 | 1 | 362 | 0.0028 | 18 | c.51+ others(33): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 2/13 | chr3 | TogoVar | |||||||
SLC13A1_chr7_123108531_123204969 | 123142660 | G | GAGTCTTA others(11): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(223): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0006a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0047 a0001c0001t0001g0048 others(203): Show |
226 | 350 | 0.6457 | 18 | c.812 others(35): Show |
SLC13A1 | ENSG00000081800.9 | transcript | ENST00000194130.7 | protein_coding | 7/14 | chr7 | TogoVar | |||||||
SLC13A3_chr20_46552828_46656459 | 46555335 | G | GACACACA others(11): Show |
downstream_gene_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0185 | 1 | 390 | 0.0026 | 18 | c.*46 others(29): Show |
SLC13A3 | ENSG00000158296.14 | transcript | ENST00000279027.9 | protein_coding | 2492 | chr20 | TogoVar | |||||||
SLC13A3_chr20_46552828_46656459 | 46632911 | A | AGACAGAC others(11): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG00738.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0026 a0001c0001t0001g0043 a0001c0001t0001g0050 others(29): Show |
32 | 390 | 0.0821 | 18 | c.111 others(37): Show |
SLC13A3 | ENSG00000158296.14 | transcript | ENST00000279027.9 | protein_coding | 1/12 | chr20 | TogoVar |