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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC12A7_chr5_1045384_1117063 | 1072459 | G | GAGCCCCC others(24): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03492.hp1 HG03579.hp1 others(3): Show |
a0001a0002 | a0001c0003a0001c0028a0002c0002others(3): Show | a0001c0003t0003a0001c0028t0002a0002c0002t0002others(3): Show | a0001c0003t0003g0002 a0001c0028t0002g0107 a0002c0002t0002g0045 others(3): Show |
6 | 107 | 0.0561 | 31 | c.224 others(50): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1072459 | G | GAGCCCCC others(24): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0058 | 1 | 102 | 0.0098 | 31 | c.224 others(50): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1072512 | G | GAGCCCCC others(24): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02040.hp2 HG02071.hp1 others(1): Show |
a0001a0002 | a0001c0003a0001c0032a0002c0002others(1): Show | a0001c0003t0017a0001c0032t0001a0002c0002t0002others(1): Show | a0001c0003t0017g0018 a0001c0032t0001g0112 a0002c0002t0002g0067 others(1): Show |
4 | 100 | 0.0400 | 31 | c.224 others(50): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1072512 | G | GAGCCCCC others(24): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0001 | 1 | 97 | 0.0103 | 31 | c.224 others(50): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1072512 | G | GAGCCCCC others(24): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03654.hp1 |
a0002 | a0002c0012a0002c0025 | a0002c0012t0024a0002c0025t0004 | a0002c0012t0024g0074 a0002c0025t0004g0061 |
2 | 98 | 0.0204 | 31 | c.224 others(50): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1072605 | G | GAGCCCCC others(24): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0001 | 1 | 99 | 0.0101 | 31 | c.224 others(50): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1072605 | G | GAGCCCCC others(24): Show |
intron_variant | MODIFIER | NA18906.hp1 NA18942.hp1 NA19055.hp1 |
a0001a0002 | a0001c0003a0002c0002a0002c0004 | a0001c0003t0003a0002c0002t0002a0002c0004t0001 | a0001c0003t0003g0019 a0002c0002t0002g0098 a0002c0004t0001g0092 |
3 | 101 | 0.0297 | 31 | c.224 others(50): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1072605 | G | GAGCCCCC others(24): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0044 | 1 | 99 | 0.0101 | 31 | c.224 others(50): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1072658 | G | GAGCCCCC others(24): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02071.hp2 HG02965.hp2 others(5): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0001a0002c0002t0002a0002c0008t0002others(3): Show | a0001c0001t0001g0053 a0002c0002t0002g0045 a0002c0002t0002g0083 others(5): Show |
8 | 108 | 0.0741 | 31 | c.224 others(48): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1072752 | G | GAGCCCCC others(24): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02683.hp1 HG02965.hp2 others(2): Show |
a0001a0002a0005 | a0001c0014a0001c0017a0002c0002others(2): Show | a0001c0014t0003a0001c0017t0004a0002c0002t0002others(2): Show | a0001c0014t0003g0059 a0001c0017t0004g0020 a0002c0002t0002g0088 others(2): Show |
5 | 107 | 0.0467 | 31 | c.224 others(48): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1072752 | G | GAGCCTCC others(24): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0083 | 1 | 103 | 0.0097 | 31 | c.224 others(48): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1072846 | G | GAGCCCCC others(24): Show |
intron_variant | MODIFIER | HG02273.hp2 HG03195.hp2 NA18522.hp2 others(1): Show |
a0002 | a0002c0002a0002c0012a0002c0016 | a0002c0002t0002a0002c0012t0003a0002c0016t0010 | a0002c0002t0002g0045 a0002c0012t0003g0073 a0002c0012t0003g0075 others(1): Show |
4 | 109 | 0.0367 | 31 | c.224 others(48): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1072846 | G | GAGCCGCC others(24): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0002 | 1 | 106 | 0.0094 | 31 | c.224 others(48): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1072941 | G | GAGCCCCC others(24): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02155.hp1 |
a0001 | a0001c0005a0001c0020 | a0001c0005t0002a0001c0020t0001 | a0001c0005t0002g0044 a0001c0020t0001g0089 |
2 | 98 | 0.0204 | 31 | c.224 others(48): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1072941 | G | GAGCCCCC others(24): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0019 | 1 | 97 | 0.0103 | 31 | c.224 others(48): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1072941 | G | GAGCCGCC others(24): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0032 | a0001c0032t0001 | a0001c0032t0001g0112 | 1 | 97 | 0.0103 | 31 | c.224 others(48): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1073078 | G | GAGCCCCC others(24): Show |
intron_variant | MODIFIER | HG02273.hp2 NA18990.hp1 NA18990.hp2 |
a0002 | a0002c0002a0002c0016 | a0002c0002t0002a0002c0016t0010 | a0002c0002t0002g0069 a0002c0002t0002g0110 a0002c0016t0010g0082 |
3 | 102 | 0.0294 | 31 | c.224 others(48): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1073078 | G | GAGCCTCC others(24): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0083 | 1 | 100 | 0.0100 | 31 | c.224 others(48): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1073173 | G | GAGCCCCC others(24): Show |
intron_variant | MODIFIER | NA18990.hp2 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0038 a0002c0002t0002g0069 |
2 | 99 | 0.0202 | 31 | c.224 others(48): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1082225 | A | AGGGTTCT others(24): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00741.hp2 HG01106.hp1 others(26): Show |
a0002a0008 | a0002c0002a0002c0004a0002c0008others(6): Show | a0002c0002t0002a0002c0002t0008a0002c0004t0001others(9): Show | a0002c0002t0002g0040 a0002c0002t0002g0045 a0002c0002t0002g0067 others(26): Show |
29 | 118 | 0.2458 | 31 | c.113 others(48): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 8/23 | chr5 | TogoVar | |||||||
SLC16A10_chr6_111082503_111236194 | 111164225 | A | AATTATAA others(24): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG02055.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0025a0001c0001t0073others(1): Show | a0001c0001t0024g0002 a0001c0001t0024g0003 a0001c0001t0025g0004 others(3): Show |
6 | 248 | 0.0242 | 31 | c.344 others(48): Show |
SLC16A10 | ENSG00000112394.18 | transcript | ENST00000368851.10 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
SLC16A4_chr1_110357857_110396026 | 110380058 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00741.hp2 HG01358.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0002c0003t0001 | a0001c0001t0001g0055 a0001c0001t0001g0100 a0001c0001t0001g0247 others(5): Show |
9 | 175 | 0.0514 | 31 | c.527 others(46): Show |
SLC16A4 | ENSG00000168679.18 | transcript | ENST00000369779.9 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
SLC17A5_chr6_73588379_73658992 | 73648298 | A | AAGAGAGA others(24): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 322 | 0.0031 | 31 | c.95- others(46): Show |
SLC17A5 | ENSG00000119899.13 | transcript | ENST00000355773.6 | protein_coding | 1/10 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132792248 | A | AAAGAAAG others(24): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0048 | 1 | 297 | 0.0034 | 31 | c.184 others(48): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132792291 | G | GAAAGAAA others(24): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 265 | 0.0038 | 31 | c.184 others(48): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132792356 | G | GAAAGAAG others(24): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02922.hp1 others(2): Show |
a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0060 a0003c0006t0002g0061 a0003c0006t0002g0062 others(2): Show |
5 | 260 | 0.0192 | 31 | c.184 others(48): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SLC1A4_chr2_64984399_65028865 | 65002570 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0119 | 1 | 168 | 0.0060 | 31 | c.570 others(48): Show |
SLC1A4 | ENSG00000115902.11 | transcript | ENST00000234256.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC22A16_chr6_110419687_110481613 | 110478273 | C | CCACCTAT others(24): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 1 | 414 | 0.0024 | 31 | c.-17 others(42): Show |
SLC22A16 | ENSG00000004809.14 | transcript | ENST00000368919.8 | protein_coding | 1661 | chr6 | TogoVar | |||||||
SLC22A1_chr6_160116815_160163718 | 160161535 | T | TTTCTGCC others(24): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0186 | 1 | 414 | 0.0024 | 31 | c.*29 others(42): Show |
SLC22A1 | ENSG00000175003.15 | transcript | ENST00000366963.9 | protein_coding | 2818 | chr6 | TogoVar | |||||||
SLC22A1_chr6_160116815_160163718 | 160161951 | C | CTTCCCAG others(24): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0113 | 1 | 414 | 0.0024 | 31 | c.*33 others(42): Show |
SLC22A1 | ENSG00000175003.15 | transcript | ENST00000366963.9 | protein_coding | 3234 | chr6 | TogoVar | |||||||
SLC22A9_chr11_63364785_63415294 | 63385106 | G | GTTTTGTT others(24): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0052 a0001c0004t0006g0053 |
2 | 74 | 0.0270 | 31 | c.107 others(50): Show |
SLC22A9 | ENSG00000149742.10 | transcript | ENST00000279178.4 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC24A3_chr20_19207642_19727926 | 19222783 | C | CCCTCCCT others(24): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0145 | 1 | 33 | 0.0303 | 31 | c.142 others(48): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC25A15_chr13_40784611_40817460 | 40813099 | T | TCCATGAC others(24): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0003 | 1 | 414 | 0.0024 | 31 | c.*34 others(42): Show |
SLC25A15 | ENSG00000102743.16 | transcript | ENST00000338625.9 | protein_coding | 640 | chr13 | TogoVar | |||||||
SLC25A17_chr22_40764630_40824346 | 40820663 | T | TAAAAAAA others(24): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG02451.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0089 a0001c0001t0001g0214 a0001c0001t0002g0079 |
3 | 154 | 0.0195 | 31 | c.-14 others(42): Show |
SLC25A17 | ENSG00000100372.15 | transcript | ENST00000435456.7 | protein_coding | 1318 | chr22 | TogoVar | |||||||
SLC25A36_chr3_140936836_140985995 | 140983538 | A | AAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 80 | 0.0125 | 31 | c.*70 others(42): Show |
SLC25A36 | ENSG00000114120.14 | transcript | ENST00000324194.12 | protein_coding | 2544 | chr3 | TogoVar | |||||||
SLC25A36_chr3_140936836_140985995 | 140983538 | A | AAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG01884.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0050 | a0001c0001t0001g0027 a0001c0001t0001g0162 a0001c0001t0050g0027 |
3 | 82 | 0.0366 | 31 | c.*70 others(42): Show |
SLC25A36 | ENSG00000114120.14 | transcript | ENST00000324194.12 | protein_coding | 2544 | chr3 | TogoVar | |||||||
SLC25A36_chr3_140936836_140985995 | 140983538 | A | AAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0019others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0022 others(17): Show |
22 | 101 | 0.2178 | 31 | c.*70 others(42): Show |
SLC25A36 | ENSG00000114120.14 | transcript | ENST00000324194.12 | protein_coding | 2544 | chr3 | TogoVar | |||||||
SLC25A36_chr3_140936836_140985995 | 140983538 | A | AAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 HG01081.hp1 HG01081.hp2 others(28): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0018 others(25): Show |
31 | 110 | 0.2818 | 31 | c.*70 others(42): Show |
SLC25A36 | ENSG00000114120.14 | transcript | ENST00000324194.12 | protein_coding | 2544 | chr3 | TogoVar | |||||||
SLC25A36_chr3_140936836_140985995 | 140983538 | A | AAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02723.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0048a0001c0001t0058 | a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0031 others(4): Show |
8 | 87 | 0.0920 | 31 | c.*70 others(42): Show |
SLC25A36 | ENSG00000114120.14 | transcript | ENST00000324194.12 | protein_coding | 2544 | chr3 | TogoVar | |||||||
SLC25A36_chr3_140936836_140985995 | 140983538 | A | AAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0104 | 1 | 80 | 0.0125 | 31 | c.*70 others(42): Show |
SLC25A36 | ENSG00000114120.14 | transcript | ENST00000324194.12 | protein_coding | 2544 | chr3 | TogoVar | |||||||
SLC25A37_chr8_23523956_23580463 | 23535579 | T | TCTAAGCT others(24): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0267 | 1 | 404 | 0.0025 | 31 | c.210 others(48): Show |
SLC25A37 | ENSG00000147454.14 | transcript | ENST00000519973.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SLC25A41_chr19_6421037_6438763 | 6429023 | T | TTATATAT others(24): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 | 1 | 334 | 0.0030 | 31 | c.624 others(46): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
SLC25A41_chr19_6421037_6438763 | 6429100 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | HG00423.hp2 HG03942.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0098 a0002c0003t0001g0103 |
2 | 253 | 0.0079 | 31 | c.624 others(46): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
SLC25A41_chr19_6421037_6438763 | 6429132 | A | ACATATAT others(24): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0107 | 1 | 332 | 0.0030 | 31 | c.624 others(46): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
SLC25A41_chr19_6421037_6438763 | 6429142 | A | AATATATA others(24): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147 | 1 | 242 | 0.0041 | 31 | c.624 others(46): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
SLC25A4_chr4_185138266_185155382 | 185144959 | G | GTGGATCG others(24): Show |
frameshift_variant others(1): Show |
HIGH | NA18994.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0005 | 1 | 442 | 0.0023 | 31 | c.310 others(38): Show |
p.Ala others(5): Show |
SLC25A4 | ENSG00000151729.11 | transcript | ENST00000281456.11 | protein_coding | 2/4 | 448/4415 | 341/897 | 114/298 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
SLC25A6_chrX_1381152_1397113 | 1392954 | C | CCCGCCTC others(24): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 194 | 0.0052 | 31 | c.-94 others(40): Show |
SLC25A6 | ENSG00000169100.14 | transcript | ENST00000381401.11 | protein_coding | 842 | chrX | TogoVar | |||||||
SLC26A4_chr7_107655828_107722809 | 107680300 | A | AATCTTAT others(24): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02886.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0019 | a0001c0001t0003g0005 a0001c0001t0003g0191 a0001c0001t0009g0190 others(1): Show |
5 | 336 | 0.0149 | 31 | c.766 others(48): Show |
SLC26A4 | ENSG00000091137.14 | transcript | ENST00000644269.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SLC26A4_chr7_107655828_107722809 | 107680300 | A | AATGTTAT others(24): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01243.hp2 HG02622.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0139 a0001c0001t0003g0037 a0001c0001t0003g0134 others(10): Show |
13 | 344 | 0.0378 | 31 | c.766 others(48): Show |
SLC26A4 | ENSG00000091137.14 | transcript | ENST00000644269.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SLC26A4_chr7_107655828_107722809 | 107686442 | T | TTTCTTTC others(24): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 a0001c0001t0001g0122 |
2 | 361 | 0.0055 | 31 | c.100 others(50): Show |
SLC26A4 | ENSG00000091137.14 | transcript | ENST00000644269.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |