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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC44A5_chr1_75197129_75616114 | 75302112 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03471.hp2 |
a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0107 a0001c0007t0002g0132 |
2 | 156 | 0.0128 | 18 | c.102 others(35): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 4/23 | chr1 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75537033 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0144 | 1 | 156 | 0.0064 | 18 | c.13+ others(33): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 2/23 | chr1 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75537033 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02809.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0021 a0001c0004t0001g0048 |
2 | 156 | 0.0128 | 18 | c.13+ others(33): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 2/23 | chr1 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75537033 | A | AAAAAATA others(11): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01515.hp1 HG04204.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0010 | a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0003t0010g0114 |
3 | 156 | 0.0192 | 18 | c.13+ others(33): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 2/23 | chr1 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75537033 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 156 | 0.0064 | 18 | c.13+ others(33): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 2/23 | chr1 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75537034 | A | AAAAAAAT others(11): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03471.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0002 | a0001c0001t0001g0106 a0001c0007t0002g0107 |
2 | 156 | 0.0128 | 18 | c.13+ others(33): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 2/23 | chr1 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75579826 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00673.hp2 HG00733.hp1 others(54): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(7): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0027 others(53): Show |
57 | 156 | 0.3654 | 18 | c.-70 others(37): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 1/23 | chr1 | TogoVar | |||||||
SLC45A1_chr1_8313114_8349165 | 8344892 | A | ACATATCC others(11): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0085 |
2 | 388 | 0.0052 | 18 | c.*87 others(27): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 728 | chr1 | TogoVar | |||||||
SLC45A2_chr5_33939623_33989693 | 33969044 | A | ACTCTCTC others(11): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02717.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0108 others(2): Show |
5 | 440 | 0.0114 | 18 | c.563 others(35): Show |
SLC45A2 | ENSG00000164175.15 | transcript | ENST00000296589.9 | protein_coding | 2/6 | chr5 | TogoVar | |||||||
SLC45A2_chr5_33939623_33989693 | 33969065 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG02451.hp2 others(8): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0003t0001a0003c0004t0001 | a0001c0001t0001g0013 a0001c0001t0001g0041 a0001c0001t0001g0103 others(7): Show |
11 | 440 | 0.0250 | 18 | c.563 others(35): Show |
SLC45A2 | ENSG00000164175.15 | transcript | ENST00000296589.9 | protein_coding | 2/6 | chr5 | TogoVar | |||||||
SLC45A2_chr5_33939623_33989693 | 33969065 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03139.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0232 |
3 | 440 | 0.0068 | 18 | c.563 others(35): Show |
SLC45A2 | ENSG00000164175.15 | transcript | ENST00000296589.9 | protein_coding | 2/6 | chr5 | TogoVar | |||||||
SLC45A3_chr1_205652851_205685509 | 205679685 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 404 | 0.0025 | 18 | c.-23 others(35): Show |
SLC45A3 | ENSG00000158715.6 | transcript | ENST00000367145.4 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
SLC45A3_chr1_205652851_205685509 | 205682432 | A | AAATAATA others(11): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0115 | 1 | 404 | 0.0025 | 18 | c.-22 others(29): Show |
SLC45A3 | ENSG00000158715.6 | transcript | ENST00000367145.4 | protein_coding | 1924 | chr1 | TogoVar | |||||||
SLC45A3_chr1_205652851_205685509 | 205683164 | C | CCACACAC others(11): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG01975.hp2 NA19000.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0003 | a0001c0001t0001g0014 a0002c0002t0001g0085 a0002c0002t0003g0265 others(1): Show |
4 | 404 | 0.0099 | 18 | c.-30 others(29): Show |
SLC45A3 | ENSG00000158715.6 | transcript | ENST00000367145.4 | protein_coding | 2656 | chr1 | TogoVar | |||||||
SLC45A3_chr1_205652851_205685509 | 205684058 | G | GGAGAGTC others(11): Show |
upstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 404 | 0.0025 | 18 | c.-38 others(29): Show |
SLC45A3 | ENSG00000158715.6 | transcript | ENST00000367145.4 | protein_coding | 3550 | chr1 | TogoVar | |||||||
SLC45A4_chr8_141202174_141313288 | 141203465 | A | AGAGAGGG others(11): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 HG02015.hp2 HG03225.hp2 others(1): Show |
a0001a0003a0005 | a0001c0003a0003c0011a0005c0026 | a0001c0003t0001a0003c0011t0001a0005c0026t0024 | a0001c0003t0001g0038 a0001c0003t0001g0085 a0003c0011t0001g0059 others(1): Show |
4 | 188 | 0.0213 | 18 | c.*81 others(29): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3708 | chr8 | TogoVar | |||||||
SLC45A4_chr8_141202174_141313288 | 141301734 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02738.hp2 NA20805.hp1 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0013 | a0002c0001t0001g0090 a0002c0001t0001g0092 a0002c0001t0013g0093 |
3 | 188 | 0.0160 | 18 | c.-40 others(37): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
SLC46A3_chr13_28695080_28723970 | 28717484 | A | AATTTTTT others(11): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0042 | 2 | 426 | 0.0047 | 18 | c.189 others(33): Show |
SLC46A3 | ENSG00000139508.15 | transcript | ENST00000266943.11 | protein_coding | 2/5 | chr13 | TogoVar | |||||||
SLC47A1_chr17_19528854_19584034 | 19536253 | C | CAATAATA others(11): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0315 | 1 | 338 | 0.0030 | 18 | c.135 others(35): Show |
SLC47A1 | ENSG00000142494.13 | transcript | ENST00000270570.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLC47A1_chr17_19528854_19584034 | 19540849 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01255.hp2 NA18984.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 others(3): Show |
6 | 338 | 0.0178 | 18 | c.136 others(35): Show |
SLC47A1 | ENSG00000142494.13 | transcript | ENST00000270570.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLC49A4_chr3_122790069_122886139 | 122797505 | G | GGAAGAAC others(11): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 | 1 | 342 | 0.0029 | 18 | c.343 others(35): Show |
SLC49A4 | ENSG00000138463.9 | transcript | ENST00000261038.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLC4A10_chr2_161619416_161990270 | 161828767 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 118 | 0.0085 | 18 | c.278 others(37): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A10_chr2_161619416_161990270 | 161987840 | T | TTATATAT others(11): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 HG02280.hp2 HG02897.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0052 others(5): Show |
8 | 118 | 0.0678 | 18 | c.*46 others(29): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 2571 | chr2 | TogoVar | |||||||
SLC4A2_chr7_151054589_151081523 | 151069140 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG01081.hp1 others(6): Show |
a0001a0002 | a0001c0007a0001c0011a0001c0017others(1): Show | a0001c0007t0001a0001c0011t0001a0001c0011t0004others(2): Show | a0001c0007t0001g0030 a0001c0007t0001g0134 a0001c0011t0001g0041 others(3): Show |
9 | 406 | 0.0222 | 18 | c.114 others(35): Show |
SLC4A2 | ENSG00000164889.15 | transcript | ENST00000413384.7 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SLC4A3_chr2_219622630_219646971 | 219630181 | C | CGACTCGC others(11): Show |
disruptive_inframe_insertion | MODERATE | HG01081.hp2 HG01516.hp1 |
a0006 | a0006c0013 | a0006c0013t0002 | a0006c0013t0002g0002 | 2 | 360 | 0.0056 | 18 | c.642 others(25): Show |
p.Arg others(13): Show |
SLC4A3 | ENSG00000114923.17 | transcript | ENST00000358055.8 | protein_coding | 6/23 | 869/4151 | 660/3699 | 220/1232 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SLC4A4_chr4_71182259_71577083 | 71311890 | T | TGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0012 | 1 | 152 | 0.0066 | 18 | c.254 others(37): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71376156 | T | TATACACA others(11): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03041.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0003a0001c0013t0011 | a0001c0001t0003g0029 a0001c0013t0011g0030 |
2 | 152 | 0.0132 | 18 | c.730 others(37): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71443083 | A | ACTCTCTC others(11): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0087 | 1 | 152 | 0.0066 | 18 | c.965 others(35): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71443116 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0011 | a0003c0011t0003 | a0003c0011t0003g0130 | 1 | 152 | 0.0066 | 18 | c.965 others(35): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71443116 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 152 | 0.0066 | 18 | c.965 others(35): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71466931 | A | AAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 152 | 0.0066 | 18 | c.163 others(35): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71536457 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 152 | 0.0066 | 18 | c.244 others(37): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71536485 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02451.hp2 HG02602.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0100 a0001c0001t0002g0104 a0001c0001t0005g0027 others(5): Show |
8 | 152 | 0.0526 | 18 | c.244 others(37): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71334020_71577083 | 71376156 | T | TATACACA others(11): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03041.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0003a0001c0015t0015 | a0001c0001t0003g0214 a0001c0015t0015g0213 |
2 | 234 | 0.0086 | 18 | c.598 others(37): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000340595.4 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71334020_71577083 | 71443083 | A | ACTCTCTC others(11): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0197 | 1 | 234 | 0.0043 | 18 | c.833 others(35): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000340595.4 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71334020_71577083 | 71443116 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0013 | a0003c0013t0003 | a0003c0013t0003g0147 | 1 | 234 | 0.0043 | 18 | c.833 others(35): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000340595.4 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71334020_71577083 | 71443116 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 234 | 0.0043 | 18 | c.833 others(35): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000340595.4 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71334020_71577083 | 71466931 | A | AAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 234 | 0.0043 | 18 | c.149 others(35): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000340595.4 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71334020_71577083 | 71536457 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00741.hp1 HG01167.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(2): Show | a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0002g0031 others(6): Show |
9 | 234 | 0.0385 | 18 | c.231 others(37): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000340595.4 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71334020_71577083 | 71536485 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02132.hp1 HG02451.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0064 a0001c0001t0002g0042 a0001c0001t0006g0155 others(7): Show |
10 | 234 | 0.0427 | 18 | c.231 others(37): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000340595.4 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A5_chr2_74211242_74348416 | 74241249 | A | ATATTATT others(11): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0017 a0001c0001t0008g0100 |
2 | 282 | 0.0071 | 18 | c.211 others(35): Show |
SLC4A5 | ENSG00000188687.18 | transcript | ENST00000394019.7 | protein_coding | 20/30 | chr2 | TogoVar | |||||||
SLC4A5_chr2_74211242_74348416 | 74264489 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00621.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0033 a0001c0001t0001g0138 a0001c0001t0001g0269 others(9): Show |
12 | 282 | 0.0426 | 18 | c.563 others(33): Show |
SLC4A5 | ENSG00000188687.18 | transcript | ENST00000394019.7 | protein_coding | 9/30 | chr2 | TogoVar | |||||||
SLC4A5_chr2_74211242_74348416 | 74290622 | T | TGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02040.hp2 HG02559.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(1): Show | a0001c0001t0001g0086 a0001c0001t0001g0138 a0001c0001t0002g0139 others(3): Show |
6 | 282 | 0.0213 | 18 | c.272 others(35): Show |
SLC4A5 | ENSG00000188687.18 | transcript | ENST00000394019.7 | protein_coding | 7/30 | chr2 | TogoVar | |||||||
SLC4A8_chr12_51419831_51520763 | 51491740 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02071.hp2 HG02083.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0010 | a0001c0002t0005g0158 a0001c0002t0005g0159 a0001c0002t0005g0161 others(2): Show |
5 | 358 | 0.0140 | 18 | c.270 others(37): Show |
SLC4A8 | ENSG00000050438.17 | transcript | ENST00000453097.7 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SLC4A9_chr5_140355194_140380141 | 140377222 | T | TCACACAC others(11): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00673.hp1 HG00735.hp2 others(17): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0019others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0019t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0017 others(5): Show |
20 | 396 | 0.0505 | 18 | c.*24 others(29): Show |
SLC4A9 | ENSG00000113073.15 | transcript | ENST00000506757.7 | protein_coding | 2082 | chr5 | TogoVar | |||||||
SLC5A10_chr17_18947165_19027565 | 19015197 | A | ACGGTACG others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(79): Show |
a0002 | a0002c0003a0002c0005a0002c0009others(4): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(13): Show | a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0161 others(79): Show |
82 | 354 | 0.2316 | 18 | c.124 others(30): Show |
SLC5A10 | ENSG00000154025.16 | transcript | ENST00000395645.4 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24849593 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18947.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 a0001c0001t0001g0207 |
2 | 378 | 0.0053 | 18 | c.-25 others(35): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24849621 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03486.hp2 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0008 a0001c0010t0001g0009 |
2 | 378 | 0.0053 | 18 | c.-25 others(35): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24913114 | G | GAACCATG others(11): Show |
downstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 378 | 0.0027 | 18 | c.*15 others(29): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 1489 | chr16 | TogoVar | |||||||
SLC5A11_chr16_24840963_24916626 | 24914095 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 NA18948.hp1 NA18948.hp2 |
a0001a0002a0003 | a0001c0001a0002c0009a0003c0006 | a0001c0001t0001a0002c0009t0001a0003c0006t0001 | a0001c0001t0001g0375 a0002c0009t0001g0221 a0003c0006t0001g0162 |
3 | 378 | 0.0079 | 18 | c.*25 others(29): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 2470 | chr16 | TogoVar |