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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC44A1_chr9_105239651_105402346 | 105276565 | CGTGTGT | C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG01106.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0095 a0001c0001t0002g0087 a0001c0001t0007g0115 others(11): Show |
14 | 142 | 0.0986 | -6 | c.37- others(23): Show |
SLC44A1 | ENSG00000070214.17 | transcript | ENST00000374720.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SLC44A1_chr9_105239651_105402346 | 105343745 | TCAGATA | T | intron_variant | MODIFIER | HG01106.hp1 HG01255.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0023a0001c0001t0037 | a0001c0001t0014g0003 a0001c0001t0014g0007 a0001c0001t0023g0074 others(1): Show |
4 | 142 | 0.0282 | -6 | c.407 others(23): Show |
SLC44A1 | ENSG00000070214.17 | transcript | ENST00000374720.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SLC44A1_chr9_105239651_105402346 | 105354039 | CTTTTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02615.hp2 HG02965.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0019a0002c0002t0068a0002c0002t0069others(1): Show | a0002c0002t0019g0077 a0002c0002t0019g0079 a0002c0002t0068g0076 others(2): Show |
5 | 142 | 0.0352 | -6 | c.501 others(23): Show |
SLC44A1 | ENSG00000070214.17 | transcript | ENST00000374720.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SLC44A1_chr9_105239651_105402346 | 105376314 | TACACAC | T | intron_variant | MODIFIER | HG01952.hp1 HG02055.hp1 NA18522.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0018others(1): Show | a0001c0001t0002g0087 a0001c0001t0008g0043 a0001c0001t0018g0057 others(2): Show |
5 | 142 | 0.0352 | -6 | c.163 others(25): Show |
SLC44A1 | ENSG00000070214.17 | transcript | ENST00000374720.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SLC44A5_chr1_75197129_75616114 | 75266318 | TACACAC | T | intron_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG01168.hp1 others(7): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0020 a0001c0004t0001g0021 a0001c0004t0001g0022 others(7): Show |
10 | 156 | 0.0641 | -6 | c.260 others(23): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 6/23 | chr1 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75287426 | CTTTTTT | C | intron_variant | MODIFIER | HG00733.hp1 HG01168.hp2 HG01243.hp2 others(9): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0006t0001 | a0001c0002t0002g0001 a0001c0002t0002g0006 a0001c0002t0002g0015 others(8): Show |
12 | 156 | 0.0769 | -6 | c.176 others(25): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75304293 | GGTGTGT | G | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG00733.hp1 others(92): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(16): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(91): Show |
95 | 156 | 0.6090 | -6 | c.102 others(23): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 4/23 | chr1 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75326095 | CGTGTGT | C | intron_variant | MODIFIER | HG01255.hp1 HG01884.hp2 HG02280.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(3): Show | a0001c0001t0001g0148 a0001c0002t0002g0077 a0001c0002t0002g0085 others(8): Show |
11 | 156 | 0.0705 | -6 | c.101 others(25): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 4/23 | chr1 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75330104 | TATACAC | T | intron_variant | MODIFIER | HG00639.hp1 HG03486.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0144 a0001c0002t0002g0147 |
2 | 156 | 0.0128 | -6 | c.101 others(23): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 4/23 | chr1 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75330106 | TACACAC | T | intron_variant | MODIFIER | HG02280.hp2 HG03471.hp1 NA18522.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0077 a0001c0002t0002g0085 a0001c0002t0002g0134 others(1): Show |
4 | 156 | 0.0256 | -6 | c.101 others(23): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 4/23 | chr1 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75368643 | GCACACA | G | intron_variant | MODIFIER | HG01255.hp1 HG02717.hp2 |
a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0129 a0001c0007t0002g0132 |
2 | 156 | 0.0128 | -6 | c.52+ others(23): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 3/23 | chr1 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75414324 | TACACAC | T | intron_variant | MODIFIER | HG01255.hp1 HG02717.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0007t0002 | a0001c0001t0001g0149 a0001c0001t0003g0142 a0001c0007t0002g0129 others(1): Show |
4 | 156 | 0.0256 | -6 | c.14- others(23): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 2/23 | chr1 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75469900 | GAAAAAA | G | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG00733.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(36): Show |
39 | 156 | 0.2500 | -6 | c.13+ others(23): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 2/23 | chr1 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75610136 | TACACAC | T | intron_variant | MODIFIER | HG01952.hp1 HG02109.hp2 HG02293.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0101 others(7): Show |
10 | 156 | 0.0641 | -6 | c.-70 others(21): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 1/23 | chr1 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75615426 | CACACAT | C | upstream_gene_variant | MODIFIER | HG03130.hp1 HG03195.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0003g0153 |
3 | 156 | 0.0192 | -6 | c.-44 others(17): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 4313 | chr1 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75615436 | TACACAC | T | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02976.hp2 HG03209.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(1): Show | a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0003g0142 others(4): Show |
7 | 156 | 0.0449 | -6 | c.-44 others(17): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 4323 | chr1 | TogoVar | |||||||
SLC45A1_chr1_8313114_8349165 | 8320692 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(121): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(96): Show |
124 | 388 | 0.3196 | -6 | c.-25 others(23): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC45A2_chr5_33939623_33989693 | 33967783 | GACACAC | G | intron_variant | MODIFIER | HG02615.hp2 HG02630.hp1 HG02970.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0273 others(4): Show |
8 | 440 | 0.0182 | -6 | c.563 others(23): Show |
SLC45A2 | ENSG00000164175.15 | transcript | ENST00000296589.9 | protein_coding | 2/6 | chr5 | TogoVar | |||||||
SLC45A3_chr1_205652851_205685509 | 205679685 | AACACAC | A | intron_variant | MODIFIER | HG00544.hp2 HG02486.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0032 | a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0005g0128 others(1): Show |
4 | 404 | 0.0099 | -6 | c.-23 others(23): Show |
SLC45A3 | ENSG00000158715.6 | transcript | ENST00000367145.4 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
SLC45A4_chr8_141202174_141313288 | 141203166 | AGAGAGG | A | downstream_gene_variant | MODIFIER | HG02572.hp1 HG02615.hp2 HG02818.hp2 others(9): Show |
a0001a0002a0008 | a0001c0004a0001c0008a0001c0020others(2): Show | a0001c0004t0004a0001c0008t0005a0001c0020t0005others(3): Show | a0001c0004t0004g0016 a0001c0004t0004g0017 a0001c0008t0005g0035 others(9): Show |
12 | 188 | 0.0638 | -6 | c.*84 others(17): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 4007 | chr8 | TogoVar | |||||||
SLC45A4_chr8_141202174_141313288 | 141269458 | ATGTGTC | A | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02109.hp2 others(2): Show |
a0001a0002 | a0001c0006a0002c0005 | a0001c0006t0009a0001c0006t0026a0002c0005t0007 | a0001c0006t0009g0005 a0001c0006t0009g0007 a0001c0006t0009g0008 others(2): Show |
5 | 188 | 0.0266 | -6 | c.-40 others(27): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
SLC46A2_chr9_112873920_112895876 | 112887946 | TGAGAGA | T | intron_variant | MODIFIER | HG02109.hp1 HG02630.hp2 HG02895.hp2 others(1): Show |
a0001a0002 | a0001c0011a0002c0007 | a0001c0011t0003a0002c0007t0014 | a0001c0011t0003g0035 a0002c0007t0014g0212 |
4 | 446 | 0.0090 | -6 | c.113 others(23): Show |
SLC46A2 | ENSG00000119457.8 | transcript | ENST00000374228.5 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
SLC47A2_chr17_19673317_19721584 | 19684810 | GCCCTCT | G | intron_variant | MODIFIER | HG03486.hp1 HG03486.hp2 HG03540.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0002t0001g0271 others(2): Show |
5 | 366 | 0.0137 | -6 | c.116 others(25): Show |
SLC47A2 | ENSG00000180638.19 | transcript | ENST00000433844.4 | protein_coding | 13/16 | chr17 | TogoVar | |||||||
SLC47A2_chr17_19673317_19721584 | 19713390 | GTAATAA | G | intron_variant | MODIFIER | HG02055.hp2 HG02074.hp2 HG02723.hp2 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0007 a0001c0001t0001g0063 a0001c0001t0001g0064 others(12): Show |
16 | 366 | 0.0437 | -6 | c.443 others(21): Show |
SLC47A2 | ENSG00000180638.19 | transcript | ENST00000433844.4 | protein_coding | 4/16 | chr17 | TogoVar | |||||||
SLC47A2_chr17_19673317_19721584 | 19715700 | TTTTTTG | T | intron_variant | MODIFIER | HG02074.hp2 NA18747.hp1 NA18964.hp1 others(6): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0138 a0001c0004t0001g0139 a0001c0004t0001g0140 others(6): Show |
9 | 366 | 0.0246 | -6 | c.124 others(21): Show |
SLC47A2 | ENSG00000180638.19 | transcript | ENST00000433844.4 | protein_coding | 1/16 | chr17 | TogoVar | |||||||
SLC49A4_chr3_122790069_122886139 | 122850637 | AGCTAGG | A | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02145.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 a0001c0001t0002g0166 a0001c0001t0002g0189 others(1): Show |
4 | 342 | 0.0117 | -6 | c.942 others(23): Show |
SLC49A4 | ENSG00000138463.9 | transcript | ENST00000261038.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLC4A10_chr2_161619416_161990270 | 161625066 | CGTGTGT | C | intron_variant | MODIFIER | HG01261.hp2 HG02257.hp1 HG02451.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 others(9): Show |
12 | 118 | 0.1017 | -6 | c.48+ others(19): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A10_chr2_161619416_161990270 | 161685631 | CAAACAA | C | intron_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0039 others(5): Show |
8 | 118 | 0.0678 | -6 | c.48+ others(23): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A10_chr2_161619416_161990270 | 161767094 | CATATAT | C | intron_variant | MODIFIER | HG01517.hp1 HG02055.hp2 HG02080.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0002 | a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0080 others(5): Show |
8 | 118 | 0.0678 | -6 | c.49- others(21): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A10_chr2_161619416_161990270 | 161767178 | ATGTGTG | A | intron_variant | MODIFIER | HG01261.hp2 HG02257.hp1 HG02257.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0047 others(12): Show |
15 | 118 | 0.1271 | -6 | c.49- others(21): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A10_chr2_161619416_161990270 | 161828767 | CATATAT | C | intron_variant | MODIFIER | HG01074.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0064 others(4): Show |
7 | 118 | 0.0593 | -6 | c.278 others(25): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A10_chr2_161619416_161990270 | 161834660 | TACACAC | T | intron_variant | MODIFIER | HG01169.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0077 a0001c0001t0002g0040 |
2 | 118 | 0.0170 | -6 | c.278 others(23): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A10_chr2_161619416_161990270 | 161836556 | GAAAGAA | G | intron_variant | MODIFIER | HG00323.hp2 HG03927.hp1 HG04199.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0002 | a0001c0002t0001g0008 a0001c0002t0001g0017 a0001c0002t0001g0020 others(2): Show |
5 | 118 | 0.0424 | -6 | c.278 others(23): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A10_chr2_161619416_161990270 | 161945182 | GTATATA | G | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG01261.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0043 others(19): Show |
22 | 118 | 0.1864 | -6 | c.210 others(25): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A10_chr2_161619416_161990270 | 161987696 | TTATATA | T | downstream_gene_variant | MODIFIER | HG02257.hp2 HG04199.hp1 NA18992.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0040 a0001c0003t0002g0010 a0001c0003t0002g0011 others(1): Show |
4 | 118 | 0.0339 | -6 | c.*45 others(17): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 2427 | chr2 | TogoVar | |||||||
SLC4A11_chr20_3222422_3244190 | 3235309 | TCACACA | T | intron_variant | MODIFIER | HG00408.hp2 HG00735.hp1 HG01981.hp2 others(11): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0012others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0012t0001others(6): Show | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0002t0001g0024 others(9): Show |
14 | 446 | 0.0314 | -6 | c.89- others(19): Show |
SLC4A11 | ENSG00000088836.14 | transcript | ENST00000642402.1 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SLC4A1AP_chr2_27658889_27699969 | 27673990 | TTGTGTG | T | intron_variant | MODIFIER | HG00639.hp1 HG02486.hp1 HG02723.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0065 a0001c0001t0001g0078 a0001c0001t0001g0110 others(8): Show |
11 | 334 | 0.0329 | -6 | c.118 others(25): Show |
SLC4A1AP | ENSG00000163798.14 | transcript | ENST00000326019.11 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A1AP_chr2_27658889_27699969 | 27691965 | TTCTCTC | T | intron_variant | MODIFIER | HG06807.hp2 NA19240.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 |
3 | 334 | 0.0090 | -6 | c.211 others(25): Show |
SLC4A1AP | ENSG00000163798.14 | transcript | ENST00000326019.11 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A1_chr17_44243390_44273135 | 44246663 | CTGTGTG | C | downstream_gene_variant | MODIFIER | HG01256.hp2 HG01993.hp2 HG02257.hp1 others(11): Show |
a0001a0003a0009 | a0001c0008a0003c0004a0009c0021 | a0001c0008t0002a0003c0004t0004a0003c0004t0019others(2): Show | a0001c0008t0002g0029 a0001c0008t0002g0164 a0003c0004t0004g0018 others(9): Show |
14 | 406 | 0.0345 | -6 | c.*37 others(17): Show |
SLC4A1 | ENSG00000004939.16 | transcript | ENST00000262418.12 | protein_coding | 1726 | chr17 | TogoVar | |||||||
SLC4A2_chr7_151054589_151081523 | 151066528 | AGGAGGC | A | disruptive_inframe_deletion | MODERATE | HG02055.hp1 HG02451.hp2 HG02717.hp1 others(8): Show |
a0003 | a0003c0013a0003c0018a0003c0043others(1): Show | a0003c0013t0001a0003c0013t0002a0003c0018t0001others(2): Show | a0003c0013t0001g0181 a0003c0013t0002g0031 a0003c0013t0002g0182 others(4): Show |
11 | 406 | 0.0271 | -6 | c.605 others(13): Show |
p.Glu others(13): Show |
SLC4A2 | ENSG00000164889.15 | transcript | ENST00000413384.7 | protein_coding | 6/23 | 842/4119 | 605/3726 | 202/1241 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
SLC4A3_chr2_219622630_219646971 | 219637193 | AGTGTGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01106.hp1 others(49): Show |
a0001a0014a0015 | a0001c0001a0001c0010a0001c0025others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 others(21): Show |
52 | 360 | 0.1444 | -6 | c.253 others(23): Show |
SLC4A3 | ENSG00000114923.17 | transcript | ENST00000358055.8 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71182714 | TCACACA | T | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02280.hp2 HG02451.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0005a0001c0001t0014a0001c0001t0016others(3): Show | a0001c0001t0005g0027 a0001c0001t0014g0043 a0001c0001t0016g0026 others(4): Show |
7 | 152 | 0.0461 | -6 | c.-46 others(17): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 4544 | chr4 | TogoVar | |||||||
SLC4A4_chr4_71182259_71577083 | 71182738 | ACACACT | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG01123.hp1 others(13): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0002g0146 others(13): Show |
16 | 152 | 0.1053 | -6 | c.-46 others(17): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 4520 | chr4 | TogoVar | |||||||
SLC4A4_chr4_71182259_71577083 | 71190385 | TACACAC | T | intron_variant | MODIFIER | NA18969.hp1 NA18969.hp2 NA18971.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 others(4): Show |
7 | 152 | 0.0461 | -6 | c.-2+ others(21): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71190860 | TTAATGA | T | intron_variant | MODIFIER | HG02647.hp2 HG03130.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0015a0001c0002t0004 | a0001c0001t0005g0115 a0001c0001t0015g0114 a0001c0002t0004g0086 |
3 | 152 | 0.0197 | -6 | c.-2+ others(21): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71297509 | AACACAC | A | intron_variant | MODIFIER | HG02071.hp2 HG02970.hp2 HG02976.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0002g0152 a0001c0001t0003g0029 a0001c0001t0003g0149 others(6): Show |
9 | 152 | 0.0592 | -6 | c.254 others(25): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71311888 | TGTGAGA | T | intron_variant | MODIFIER | HG02886.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0002t0007 | a0001c0001t0016g0001 a0001c0002t0007g0008 |
2 | 152 | 0.0132 | -6 | c.254 others(25): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71317075 | CGTGTGT | C | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02922.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0083 a0001c0001t0003g0073 a0001c0001t0005g0051 others(4): Show |
7 | 152 | 0.0461 | -6 | c.254 others(25): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71348313 | TCACACA | T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG01123.hp1 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0092 a0001c0001t0001g0109 a0001c0001t0001g0126 others(19): Show |
22 | 152 | 0.1447 | -6 | c.390 others(23): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 4/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71376156 | TACACAC | T | intron_variant | MODIFIER | HG02630.hp2 HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004 | a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0002t0004g0031 |
3 | 152 | 0.0197 | -6 | c.730 others(25): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |