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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SDK1_chr7_3296252_4274000 | 3855582 | CATAGAAG | C | intron_variant | MODIFIER | HG01891.hp2 HG02622.hp1 HG02622.hp2 others(3): Show |
a0001a0004a0005others(1): Show | a0001c0014a0001c0087a0004c0080others(2): Show | a0001c0014t0018a0001c0087t0009a0004c0080t0014others(2): Show | a0001c0014t0018g0060 a0001c0014t0018g0062 a0001c0087t0009g0054 others(3): Show |
6 | 116 | 0.0517 | -7 | c.847 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 5/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3884076 | TTTTTTTG | T | intron_variant | MODIFIER | HG02723.hp2 HG02896.hp1 HG03195.hp2 others(2): Show |
a0001a0002a0027 | a0001c0037a0001c0059a0001c0060others(2): Show | a0001c0037t0002a0001c0059t0027a0001c0060t0041others(2): Show | a0001c0037t0002g0077 a0001c0059t0027g0090 a0001c0060t0041g0080 others(2): Show |
5 | 116 | 0.0431 | -7 | c.847 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 5/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3906617 | CTTTTTTT | C | intron_variant | MODIFIER | HG01081.hp2 HG01167.hp1 HG01243.hp1 others(9): Show |
a0001a0002a0009others(5): Show | a0001c0067a0002c0012a0002c0013others(8): Show | a0001c0067t0068a0002c0012t0016a0002c0013t0064others(8): Show | a0001c0067t0068g0001 a0002c0012t0016g0002 a0002c0012t0016g0003 others(9): Show |
12 | 21 | 0.5714 | -7 | c.848 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 5/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3954408 | ACACCCTC | A | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG00735.hp1 others(31): Show |
a0001a0002a0003others(14): Show | a0001c0002a0001c0007a0001c0008others(27): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0040others(31): Show | a0001c0002t0002g0096 a0001c0002t0004g0104 a0001c0002t0040g0084 others(31): Show |
34 | 116 | 0.2931 | -7 | c.115 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 7/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4093458 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00738.hp1 others(35): Show |
a0001a0002a0005others(14): Show | a0001c0007a0001c0010a0001c0011others(32): Show | a0001c0007t0021a0001c0010t0002a0001c0011t0008others(34): Show | a0001c0007t0021g0110 a0001c0010t0002g0085 a0001c0011t0008g0028 others(35): Show |
38 | 74 | 0.5135 | -7 | c.332 others(28): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4262018 | CTTTTTTT | C | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02615.hp2 others(5): Show |
a0001a0002a0011 | a0001c0002a0001c0034a0001c0064others(4): Show | a0001c0002t0040a0001c0034t0028a0001c0064t0006others(4): Show | a0001c0002t0040g0084 a0001c0034t0028g0098 a0001c0064t0006g0111 others(5): Show |
8 | 37 | 0.2162 | -7 | c.638 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73375230 | CTTTTTTT | C | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp2 HG01167.hp1 others(17): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0068others(17): Show | a0001c0001t0001g0013 a0001c0001t0015g0050 a0001c0001t0068g0012 others(17): Show |
20 | 49 | 0.4082 | -7 | c.498 others(26): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 36/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73456620 | GGTGTGTA | G | intron_variant | MODIFIER | HG02630.hp1 HG03516.hp2 NA18522.hp2 |
a0001a0008 | a0001c0002a0001c0053a0008c0047 | a0001c0002t0010a0001c0053t0022a0008c0047t0023 | a0001c0002t0010g0184 a0001c0053t0022g0040 a0008c0047t0023g0019 |
3 | 202 | 0.0149 | -7 | c.332 others(22): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 3/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73457293 | CCCTCCCT | C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(47): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(35): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0025others(42): Show | a0001c0001t0001g0013 a0001c0001t0001g0064 a0001c0001t0001g0196 others(47): Show |
50 | 202 | 0.2475 | -7 | c.332 others(24): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 3/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73477401 | AGTGCAGT | A | intron_variant | MODIFIER | HG01169.hp1 HG01346.hp2 HG06807.hp1 |
a0001a0002 | a0001c0007a0001c0008a0002c0030 | a0001c0007t0002a0001c0008t0030a0002c0030t0015 | a0001c0007t0002g0044 a0001c0008t0030g0104 a0002c0030t0015g0095 |
3 | 202 | 0.0149 | -7 | c.225 others(24): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73518310 | TGGGCATC | T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(14): Show | a0001c0001t0025a0001c0004t0079a0001c0005t0078others(15): Show | a0001c0001t0025g0086 a0001c0004t0079g0142 a0001c0005t0078g0101 others(16): Show |
19 | 202 | 0.0941 | -7 | c.65- others(24): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73636700 | AAAAAAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG01167.hp1 HG01169.hp2 others(11): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0001c0013others(10): Show | a0001c0001t0001a0001c0001t0068a0001c0007t0003others(11): Show | a0001c0001t0001g0013 a0001c0001t0068g0012 a0001c0007t0003g0014 others(11): Show |
14 | 202 | 0.0693 | -7 | c.64+ others(22): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
SDR42E1_chr16_81983855_82016470 | 82007901 | CTTATTAT | C | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp2 HG02145.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0011a0002c0002t0014a0002c0002t0048others(2): Show | a0002c0002t0011g0032 a0002c0002t0011g0193 a0002c0002t0014g0190 others(5): Show |
10 | 418 | 0.0239 | -7 | c.-27 others(24): Show |
SDR42E1 | ENSG00000184860.10 | transcript | ENST00000328945.7 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
SEC11A_chr15_84664544_84721139 | 84685797 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(38): Show |
47 | 106 | 0.4434 | -7 | c.311 others(24): Show |
SEC11A | ENSG00000140612.14 | transcript | ENST00000268220.12 | protein_coding | 3/5 | chr15 | TogoVar | |||||||
SEC11A_chr15_84664544_84721139 | 84700593 | CAAAAAAA | C | intron_variant | MODIFIER | HG00621.hp2 HG01255.hp1 HG01517.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0038 others(23): Show |
27 | 34 | 0.7941 | -7 | c.52- others(22): Show |
SEC11A | ENSG00000140612.14 | transcript | ENST00000268220.12 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
SEC11A_chr15_84664544_84721139 | 84717402 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG01255.hp1 HG01255.hp2 HG01433.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0050 a0001c0001t0001g0076 others(3): Show |
7 | 156 | 0.0449 | -7 | c.-13 others(18): Show |
SEC11A | ENSG00000140612.14 | transcript | ENST00000268220.12 | protein_coding | 1264 | chr15 | TogoVar | |||||||
SEC13_chr3_10295931_10326112 | 10308783 | TGAGTTGA | T | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG02280.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0243 others(8): Show |
13 | 378 | 0.0344 | -7 | c.451 others(24): Show |
SEC13 | ENSG00000157020.18 | transcript | ENST00000350697.8 | protein_coding | 5/8 | chr3 | TogoVar | |||||||
SEC13_chr3_10295931_10326112 | 10308933 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(72): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(46): Show |
75 | 97 | 0.7732 | -7 | c.450 others(24): Show |
SEC13 | ENSG00000157020.18 | transcript | ENST00000350697.8 | protein_coding | 5/8 | chr3 | TogoVar | |||||||
SEC13_chr3_10295931_10326112 | 10321737 | TATCTATC | T | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00597.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(32): Show |
52 | 378 | 0.1376 | -7 | c.-69 others(16): Show |
SEC13 | ENSG00000157020.18 | transcript | ENST00000350697.8 | protein_coding | 626 | chr3 | TogoVar | |||||||
SEC14L1_chr17_77135969_77222101 | 77169007 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(75): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0023 others(72): Show |
78 | 91 | 0.8571 | -7 | c.64- others(24): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEC14L3_chr22_30454229_30477017 | 30454749 | TATATATA | T | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00597.hp1 others(50): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0023 others(13): Show |
53 | 452 | 0.1173 | -7 | c.*52 others(18): Show |
SEC14L3 | ENSG00000100012.12 | transcript | ENST00000215812.9 | protein_coding | 4479 | chr22 | TogoVar | |||||||
SEC14L3_chr22_30454229_30477017 | 30455060 | TATATATA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(62): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0004a0006c0006others(1): Show | a0001c0001t0001a0004c0004t0001a0006c0006t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0135 a0004c0004t0001g0005 others(20): Show |
65 | 286 | 0.2273 | -7 | c.*49 others(18): Show |
SEC14L3 | ENSG00000100012.12 | transcript | ENST00000215812.9 | protein_coding | 4168 | chr22 | TogoVar | |||||||
SEC14L5_chr16_4953330_5024157 | 4967561 | CGTTTTTT | C | intron_variant | MODIFIER | HG01074.hp1 NA19057.hp1 NA19062.hp2 others(1): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0002t0004a0001c0006t0003 | a0001c0002t0002g0140 a0001c0002t0002g0189 a0001c0002t0004g0198 others(1): Show |
4 | 278 | 0.0144 | -7 | c.63+ others(22): Show |
SEC14L5 | ENSG00000103184.12 | transcript | ENST00000251170.12 | protein_coding | 2/15 | chr16 | TogoVar | |||||||
SEC14L5_chr16_4953330_5024157 | 4981255 | GTTTTTTT | G | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00673.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0031a0001c0002t0002others(7): Show | a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0031g0224 others(17): Show |
20 | 71 | 0.2817 | -7 | c.64- others(22): Show |
SEC14L5 | ENSG00000103184.12 | transcript | ENST00000251170.12 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SEC14L5_chr16_4953330_5024157 | 4983902 | AAATAAAT | A | intron_variant | MODIFIER | HG00741.hp2 HG01123.hp1 HG01175.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0003t0003a0001c0003t0037 | a0001c0002t0004g0287 a0001c0003t0003g0271 a0001c0003t0037g0270 |
3 | 374 | 0.0080 | -7 | c.64- others(22): Show |
SEC14L5 | ENSG00000103184.12 | transcript | ENST00000251170.12 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SEC22A_chr3_123196943_123279136 | 123203053 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00733.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0014 | a0001c0001t0002g0026 a0001c0001t0003g0002 a0001c0001t0003g0003 others(19): Show |
24 | 107 | 0.2243 | -7 | c.-20 others(24): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEC22A_chr3_123196943_123279136 | 123260131 | CAAAAAAA | C | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp2 HG02572.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0219 a0001c0001t0001g0277 a0001c0001t0002g0146 others(6): Show |
9 | 36 | 0.2500 | -7 | c.723 others(22): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEC22B_chr1_120145898_120181520 | 120163945 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG02109.hp1 HG02280.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0039a0001c0001t0063others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0178 a0001c0001t0039g0133 others(5): Show |
14 | 269 | 0.0520 | -7 | c.186 others(22): Show |
SEC22B | ENSG00000265808.4 | transcript | ENST00000578049.4 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39091249 | CTTTAAAT | C | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01515.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0326 others(3): Show |
6 | 364 | 0.0165 | -7 | c.603 others(22): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 5/19 | chr14 | TogoVar | |||||||
SEC23B_chr20_18502940_18566415 | 18564769 | TGGCTTGG | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG01981.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0217 a0001c0001t0001g0218 others(8): Show |
13 | 408 | 0.0319 | -7 | c.*40 others(18): Show |
SEC23B | ENSG00000101310.17 | transcript | ENST00000650089.1 | protein_coding | 3355 | chr20 | TogoVar | |||||||
SEC23IP_chr10_119887730_119949657 | 119891539 | TTTTTTTC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(44): Show |
a0001 | a0001c0003a0001c0014 | a0001c0003t0004a0001c0003t0014a0001c0003t0032others(1): Show | a0001c0003t0004g0002 a0001c0003t0004g0006 a0001c0003t0004g0011 others(28): Show |
47 | 398 | 0.1181 | -7 | c.-12 others(18): Show |
SEC23IP | ENSG00000107651.15 | transcript | ENST00000369075.8 | protein_coding | 1190 | chr10 | TogoVar | |||||||
SEC23IP_chr10_119887730_119949657 | 119938414 | CATGTAGT | C | intron_variant | MODIFIER | HG00642.hp2 HG01243.hp2 HG02717.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013 | a0001c0001t0007g0039 a0001c0001t0007g0281 a0001c0001t0007g0282 others(3): Show |
7 | 398 | 0.0176 | -7 | c.*21 others(24): Show |
SEC23IP | ENSG00000107651.15 | transcript | ENST00000369075.8 | protein_coding | 18/18 | chr10 | TogoVar | |||||||
SEC24A_chr5_134643785_134732909 | 134698527 | CCTGGCCT | C | intron_variant | MODIFIER | HG00597.hp2 NA18942.hp2 NA18970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0062 a0001c0001t0001g0111 a0001c0001t0003g0072 others(1): Show |
4 | 316 | 0.0127 | -7 | c.226 others(24): Show |
SEC24A | ENSG00000113615.13 | transcript | ENST00000398844.7 | protein_coding | 15/22 | chr5 | TogoVar | |||||||
SEC24B_chr4_109428815_109545896 | 109439474 | ATTTTTTT | A | intron_variant | MODIFIER | HG01106.hp2 HG01255.hp2 HG01891.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(3): Show |
6 | 28 | 0.2143 | -7 | c.133 others(24): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24D_chr4_118717823_118841126 | 118793466 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00558.hp2 others(56): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(54): Show |
59 | 236 | 0.2500 | -7 | c.104 others(26): Show |
SEC24D | ENSG00000150961.15 | transcript | ENST00000280551.11 | protein_coding | 8/22 | chr4 | TogoVar | |||||||
SEC61G_chr7_54747253_54764211 | 54756967 | ATATATAC | A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp1 others(77): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0022 others(9): Show |
80 | 403 | 0.1985 | -7 | c.94+ others(20): Show |
SEC61G | ENSG00000132432.14 | transcript | ENST00000352861.9 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
SEC63_chr6_107862756_107963208 | 107938566 | CTTTTTTT | C | intron_variant | MODIFIER | HG01106.hp1 HG01255.hp1 HG01433.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0253 a0001c0001t0001g0255 others(2): Show |
6 | 326 | 0.0184 | -7 | c.125 others(24): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 1/20 | chr6 | TogoVar | |||||||
SEH1L_chr18_12943011_12992531 | 12958064 | CTTTTTTT | C | intron_variant | MODIFIER | HG02027.hp2 HG02132.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0003t0002a0001c0004t0001 | a0001c0001t0002g0347 a0001c0003t0002g0364 a0001c0004t0001g0013 others(4): Show |
7 | 9 | 0.7778 | -7 | c.309 others(24): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEH1L_chr18_12943011_12992531 | 12990222 | TGTGTGTG | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01070.hp2 HG01099.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 others(1): Show |
4 | 386 | 0.0104 | -7 | c.*31 others(18): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 2692 | chr18 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13883154 | GTTCTCCA | G | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0323 |
3 | 322 | 0.0093 | -7 | c.957 others(24): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 10/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13907727 | TTTCTTTC | T | intron_variant | MODIFIER | NA18962.hp2 NA18998.hp1 NA19001.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0087 a0004c0006t0001g0085 a0004c0006t0001g0086 others(2): Show |
5 | 322 | 0.0155 | -7 | c.549 others(24): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 5/19 | chr20 | TogoVar | |||||||
SELENOF_chr1_86857445_86919126 | 86866195 | CAAAAAAA | C | intron_variant | MODIFIER | HG02451.hp2 HG02630.hp1 HG03453.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0005g0003 others(3): Show |
7 | 141 | 0.0496 | -7 | c.366 others(24): Show |
SELENOF | ENSG00000183291.18 | transcript | ENST00000331835.10 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
SELENOF_chr1_86857445_86919126 | 86882247 | CAAAAAAA | C | intron_variant | MODIFIER | HG02451.hp2 HG02630.hp1 HG03453.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0005g0003 others(3): Show |
7 | 116 | 0.0603 | -7 | c.253 others(24): Show |
SELENOF | ENSG00000183291.18 | transcript | ENST00000331835.10 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
SELENOF_chr1_86857445_86919126 | 86885391 | CCAGATAG | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(73): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 others(67): Show |
76 | 224 | 0.3393 | -7 | c.253 others(24): Show |
SELENOF | ENSG00000183291.18 | transcript | ENST00000331835.10 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
SELENOF_chr1_86857445_86919126 | 86897651 | GCAGCTAA | G | intron_variant | MODIFIER | HG02486.hp1 HG02818.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 others(1): Show |
4 | 224 | 0.0179 | -7 | c.252 others(24): Show |
SELENOF | ENSG00000183291.18 | transcript | ENST00000331835.10 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
SELENOI_chr2_26341143_26400885 | 26348996 | CTTTTTTT | C | intron_variant | MODIFIER | HG00735.hp2 HG01123.hp2 HG01169.hp2 others(27): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0002g0177 a0001c0001t0002g0243 a0001c0001t0003g0086 others(24): Show |
30 | 38 | 0.7895 | -7 | c.57+ others(22): Show |
SELENOI | ENSG00000138018.19 | transcript | ENST00000260585.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SELENOI_chr2_26341143_26400885 | 26381198 | CTTTTTTT | C | intron_variant | MODIFIER | HG00558.hp2 HG01168.hp1 HG01169.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0005a0001c0001t0024a0001c0002t0001others(6): Show | a0001c0001t0005g0269 a0001c0001t0024g0213 a0001c0002t0001g0113 others(23): Show |
28 | 49 | 0.5714 | -7 | c.683 others(24): Show |
SELENOI | ENSG00000138018.19 | transcript | ENST00000260585.12 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SELENOI_chr2_26341143_26400885 | 26398037 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01071.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0010others(4): Show | a0001c0001t0005g0022 a0001c0001t0005g0263 a0001c0001t0005g0265 others(18): Show |
23 | 34 | 0.6765 | -7 | c.*89 others(18): Show |
SELENOI | ENSG00000138018.19 | transcript | ENST00000260585.12 | protein_coding | 2153 | chr2 | TogoVar | |||||||
SELENON_chr1_25795193_25823221 | 25812597 | ACACACAC | A | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0004a0001c0007 | a0001c0004t0001a0001c0007t0001 | a0001c0004t0001g0009 a0001c0004t0001g0073 a0001c0007t0001g0009 |
6 | 390 | 0.0154 | -7 | c.128 others(22): Show |
SELENON | ENSG00000162430.18 | transcript | ENST00000361547.7 | protein_coding | 9/12 | WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS | chr1 | TogoVar | ||||||
SELENOV_chr19_39510139_39525675 | 39510557 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00738.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0011 others(22): Show |
32 | 48 | 0.6667 | -7 | c.-46 others(18): Show |
SELENOV | ENSG00000186838.15 | transcript | ENST00000335426.9 | protein_coding | 4581 | chr19 | TogoVar |