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 | 4193372 | TTATATA | T | intron_variant | MODIFIER | HG01891.hp2 HG01978.hp2 HG02451.hp1 others(6): Show |
a0001a0002a0004others(2): Show | a0001c0010a0001c0011a0001c0031others(6): Show | a0001c0010t0060a0001c0011t0008a0001c0031t0001others(6): Show | a0001c0010t0060g0017 a0001c0011t0008g0028 a0001c0031t0001g0018 others(6): Show |
9 | 116 | 0.0776 | -6 | c.509 others(27): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 35/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4254181 | GTGTTTT | G | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG02258.hp2 others(3): Show |
a0001a0006a0010others(1): Show | a0001c0017a0001c0072a0006c0006others(2): Show | a0001c0017t0011a0001c0072t0065a0006c0006t0001others(2): Show | a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0072t0065g0027 others(3): Show |
6 | 116 | 0.0517 | -6 | c.638 others(25): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73330545 | CTGTGTG | C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01243.hp1 HG01261.hp2 others(13): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0004a0001c0006others(12): Show | a0001c0003t0002a0001c0003t0061a0001c0004t0079others(13): Show | a0001c0003t0002g0075 a0001c0003t0061g0041 a0001c0004t0079g0140 others(13): Show |
16 | 204 | 0.0784 | -6 | c.*80 others(17): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 3838 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73355174 | ATTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00621.hp1 others(31): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0006others(22): Show | a0001c0001t0002a0001c0002t0010a0001c0002t0096others(28): Show | a0001c0001t0002g0027 a0001c0002t0010g0181 a0001c0002t0096g0123 others(31): Show |
34 | 204 | 0.1667 | -6 | c.559 others(25): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73374328 | CCAAACA | C | intron_variant | MODIFIER | HG02165.hp2 HG02683.hp2 HG02698.hp2 others(5): Show |
a0001a0002a0023 | a0001c0005a0001c0010a0001c0032others(4): Show | a0001c0005t0078a0001c0010t0006a0001c0032t0001others(5): Show | a0001c0005t0078g0100 a0001c0010t0006g0053 a0001c0032t0001g0136 others(5): Show |
8 | 204 | 0.0392 | -6 | c.498 others(25): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 36/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73405467 | CATATAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00621.hp2 others(20): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0015a0001c0002t0001others(20): Show | a0001c0001t0001g0063 a0001c0001t0015g0049 a0001c0002t0001g0047 others(20): Show |
23 | 204 | 0.1128 | -6 | c.248 others(25): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 18/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73457262 | CCTTCCT | C | intron_variant | MODIFIER | HG00558.hp1 HG01891.hp2 HG02074.hp2 others(16): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0025others(15): Show | a0001c0001t0001g0063 a0001c0001t0015g0049 a0001c0001t0025g0085 others(16): Show |
19 | 204 | 0.0931 | -6 | c.332 others(23): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 3/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73457280 | TTCCTTC | T | intron_variant | MODIFIER | HG02698.hp2 HG03486.hp2 |
a0001a0002 | a0001c0018a0002c0029 | a0001c0018t0008a0002c0029t0003 | a0001c0018t0008g0156 a0002c0029t0003g0078 |
2 | 204 | 0.0098 | -6 | c.332 others(23): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 3/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73469990 | GCGCACA | G | intron_variant | MODIFIER | HG03579.hp1 NA18522.hp2 |
a0001a0008 | a0001c0035a0008c0047 | a0001c0035t0056a0008c0047t0023 | a0001c0035t0056g0065 a0008c0047t0023g0019 |
2 | 204 | 0.0098 | -6 | c.331 others(23): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 3/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73483479 | TTGTGTG | T | intron_variant | MODIFIER | HG02818.hp1 HG03209.hp1 |
a0001a0006 | a0001c0006a0006c0085 | a0001c0006t0018a0006c0085t0095 | a0001c0006t0018g0109 a0006c0085t0095g0042 |
2 | 204 | 0.0098 | -6 | c.225 others(25): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73483505 | GTGTGTA | G | intron_variant | MODIFIER | HG02630.hp1 NA18522.hp2 NA18942.hp2 |
a0001a0008 | a0001c0002a0001c0003a0008c0047 | a0001c0002t0010a0001c0003t0051a0008c0047t0023 | a0001c0002t0010g0181 a0001c0003t0051g0046 a0008c0047t0023g0019 |
3 | 204 | 0.0147 | -6 | c.225 others(25): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73483659 | GTGTATA | G | intron_variant | MODIFIER | HG00558.hp2 HG01192.hp2 HG01261.hp1 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0007a0001c0016others(8): Show | a0001c0002t0001a0001c0007t0003a0001c0007t0013others(9): Show | a0001c0002t0001g0047 a0001c0002t0001g0137 a0001c0007t0003g0014 others(10): Show |
13 | 204 | 0.0637 | -6 | c.225 others(25): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73483661 | GTATATA | G | intron_variant | MODIFIER | HG00544.hp2 HG01106.hp1 HG01169.hp1 others(2): Show |
a0001a0009 | a0001c0002a0001c0007a0001c0008others(1): Show | a0001c0002t0014a0001c0007t0002a0001c0008t0030others(2): Show | a0001c0002t0014g0097 a0001c0007t0002g0043 a0001c0008t0030g0103 others(2): Show |
5 | 204 | 0.0245 | -6 | c.225 others(25): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73483677 | ATATATT | A | intron_variant | MODIFIER | HG01074.hp2 HG01175.hp1 HG01891.hp1 others(2): Show |
a0001a0002 | a0001c0003a0001c0005a0001c0068others(2): Show | a0001c0003t0090a0001c0005t0048a0001c0068t0007others(2): Show | a0001c0003t0090g0132 a0001c0005t0048g0145 a0001c0068t0007g0117 others(2): Show |
5 | 204 | 0.0245 | -6 | c.225 others(25): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73499859 | CTGTGTG | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00558.hp2 others(18): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0009a0001c0002t0001a0001c0003t0020others(18): Show | a0001c0001t0009g0139 a0001c0002t0001g0137 a0001c0003t0020g0155 others(18): Show |
21 | 204 | 0.1029 | -6 | c.224 others(23): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73502079 | GCACATA | G | intron_variant | MODIFIER | HG01169.hp2 HG01361.hp2 HG01884.hp2 others(7): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0006a0001c0010others(6): Show | a0001c0001t0001a0001c0006t0014a0001c0010t0001others(7): Show | a0001c0001t0001g0013 a0001c0006t0014g0201 a0001c0010t0001g0036 others(7): Show |
10 | 204 | 0.0490 | -6 | c.224 others(23): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73504189 | CGTGCGT | C | intron_variant | MODIFIER | HG01361.hp2 HG01884.hp2 HG01891.hp1 others(17): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0005others(14): Show | a0001c0001t0025a0001c0002t0065a0001c0005t0001others(17): Show | a0001c0001t0025g0085 a0001c0002t0065g0177 a0001c0005t0001g0050 others(17): Show |
20 | 204 | 0.0980 | -6 | c.224 others(23): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73504237 | AGTGTGT | A | intron_variant | MODIFIER | HG00738.hp2 HG03516.hp2 |
a0001a0025 | a0001c0053a0025c0057 | a0001c0053t0022a0025c0057t0003 | a0001c0053t0022g0039 a0025c0057t0003g0171 |
2 | 204 | 0.0098 | -6 | c.224 others(23): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73504263 | TGTGAAA | T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02145.hp2 others(7): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0068a0001c0002t0010others(7): Show | a0001c0001t0001g0013 a0001c0001t0068g0012 a0001c0002t0010g0181 others(7): Show |
10 | 204 | 0.0490 | -6 | c.224 others(23): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73505686 | CTCATCA | C | intron_variant | MODIFIER | HG01361.hp2 HG01884.hp2 HG01891.hp1 others(4): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0026others(4): Show | a0001c0001t0025a0001c0002t0065a0001c0026t0022others(4): Show | a0001c0001t0025g0085 a0001c0002t0065g0177 a0001c0026t0022g0115 others(4): Show |
7 | 204 | 0.0343 | -6 | c.224 others(23): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73521753 | CGAGACA | C | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp2 HG02074.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0032others(5): Show | a0001c0001t0009a0001c0001t0015a0001c0002t0001others(6): Show | a0001c0001t0009g0120 a0001c0001t0015g0072 a0001c0002t0001g0112 others(6): Show |
9 | 204 | 0.0441 | -6 | c.65- others(23): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73610840 | CGTGTGT | C | intron_variant | MODIFIER | HG01346.hp1 HG02717.hp1 |
a0001a0004 | a0001c0005a0004c0066 | a0001c0005t0050a0004c0066t0018 | a0001c0005t0050g0032 a0004c0066t0018g0031 |
2 | 204 | 0.0098 | -6 | c.64+ others(23): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73613584 | GCCCCAC | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(175): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0003others(102): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(165): Show | a0001c0001t0001g0013 a0001c0001t0001g0192 a0001c0001t0001g0197 others(175): Show |
178 | 204 | 0.8726 | -6 | c.64+ others(23): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73636701 | AAAAAAG | A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00544.hp2 others(34): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0065others(32): Show | a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0002g0027 others(34): Show |
37 | 204 | 0.1814 | -6 | c.64+ others(21): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
SDR16C5_chr8_56295005_56325175 | 56299259 | CCACACA | C | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01070.hp2 HG01071.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0033 a0001c0001t0001g0177 others(3): Show |
7 | 398 | 0.0176 | -6 | c.*22 others(17): Show |
SDR16C5 | ENSG00000170786.13 | transcript | ENST00000303749.8 | protein_coding | 745 | chr8 | TogoVar | |||||||
SDR16C5_chr8_56295005_56325175 | 56310179 | GGAGGAA | G | intron_variant | MODIFIER | HG00423.hp2 HG01081.hp1 HG01496.hp1 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0041 others(18): Show |
51 | 398 | 0.1281 | -6 | c.466 others(23): Show |
SDR16C5 | ENSG00000170786.13 | transcript | ENST00000303749.8 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
SDR16C5_chr8_56295005_56325175 | 56310290 | AGGAAGG | A | intron_variant | MODIFIER | HG02004.hp1 HG02055.hp2 HG02155.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0002g0217 |
3 | 398 | 0.0075 | -6 | c.466 others(23): Show |
SDR16C5 | ENSG00000170786.13 | transcript | ENST00000303749.8 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
SDR42E2_chr16_22157506_22196751 | 22177656 | AAAAAGG | A | intron_variant | MODIFIER | HG01109.hp1 HG02895.hp2 HG02897.hp1 others(1): Show |
a0001a0002 | a0001c0006a0002c0009 | a0001c0006t0005a0002c0009t0017 | a0001c0006t0005g0239 a0001c0006t0005g0240 a0001c0006t0005g0241 others(1): Show |
4 | 356 | 0.0112 | -6 | c.590 others(21): Show |
SDR42E2 | ENSG00000183921.8 | transcript | ENST00000602312.3 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SEC11A_chr15_84664544_84721139 | 84700593 | CAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0061 others(27): Show |
30 | 320 | 0.0938 | -6 | c.52- others(21): Show |
SEC11A | ENSG00000140612.14 | transcript | ENST00000268220.12 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
SEC11C_chr18_59134884_59163832 | 59144726 | TAAAAAA | T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00558.hp1 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0036 others(27): Show |
72 | 444 | 0.1622 | -6 | c.87+ others(21): Show |
SEC11C | ENSG00000166562.9 | transcript | ENST00000587834.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEC13_chr3_10295931_10326112 | 10305862 | CAACAGT | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(75): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(49): Show |
78 | 380 | 0.2053 | -6 | c.451 others(21): Show |
SEC13 | ENSG00000157020.18 | transcript | ENST00000350697.8 | protein_coding | 5/8 | chr3 | TogoVar | |||||||
SEC13_chr3_10295931_10326112 | 10307310 | GTGATTC | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00438.hp1 others(140): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(72): Show |
143 | 380 | 0.3763 | -6 | c.451 others(23): Show |
SEC13 | ENSG00000157020.18 | transcript | ENST00000350697.8 | protein_coding | 5/8 | chr3 | TogoVar | |||||||
SEC13_chr3_10295931_10326112 | 10320006 | GGAGAGA | G | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG00735.hp2 others(54): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0023 others(37): Show |
57 | 380 | 0.1500 | -6 | c.3+1 others(19): Show |
SEC13 | ENSG00000157020.18 | transcript | ENST00000350697.8 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
SEC14L1_chr17_77135969_77222101 | 77145099 | ATGTGTG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(103): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(12): Show | a0001c0001t0003g0007 a0001c0001t0003g0021 a0001c0001t0003g0106 others(100): Show |
106 | 430 | 0.2465 | -6 | c.63+ others(21): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEC14L1_chr17_77135969_77222101 | 77145131 | GTGTGTA | G | intron_variant | MODIFIER | HG00544.hp2 NA18967.hp1 NA19066.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0039 | a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 others(1): Show |
4 | 430 | 0.0093 | -6 | c.63+ others(21): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEC14L1_chr17_77135969_77222101 | 77169007 | CTTTTTT | C | intron_variant | MODIFIER | HG01175.hp2 HG02280.hp2 HG02896.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0003a0001c0001t0007a0001c0001t0045others(1): Show | a0001c0001t0003g0115 a0001c0001t0003g0125 a0001c0001t0003g0126 others(4): Show |
7 | 430 | 0.0163 | -6 | c.64- others(23): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEC14L2_chr22_30392018_30430303 | 30395318 | CTTGTTT | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01255.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 a0001c0001t0003g0037 a0001c0001t0003g0162 others(2): Show |
8 | 420 | 0.0191 | -6 | c.-17 others(17): Show |
SEC14L2 | ENSG00000100003.18 | transcript | ENST00000615189.5 | protein_coding | 1699 | chr22 | TogoVar | |||||||
SEC14L2_chr22_30392018_30430303 | 30397499 | TGGGGCA | T | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01515.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0311 a0001c0001t0005g0312 a0001c0001t0005g0313 others(1): Show |
4 | 420 | 0.0095 | -6 | c.54+ others(19): Show |
SEC14L2 | ENSG00000100003.18 | transcript | ENST00000615189.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEC14L2_chr22_30392018_30430303 | 30400918 | AAAAAAG | A | intron_variant | MODIFIER | HG01192.hp2 HG02109.hp1 HG02630.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0021 | a0001c0001t0008g0004 a0001c0001t0008g0043 a0001c0001t0008g0196 others(3): Show |
10 | 420 | 0.0238 | -6 | c.130 others(23): Show |
SEC14L2 | ENSG00000100003.18 | transcript | ENST00000615189.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEC14L3_chr22_30454229_30477017 | 30457377 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG02572.hp2 HG03041.hp2 HG03098.hp1 others(6): Show |
a0001a0003a0005others(2): Show | a0001c0001a0003c0003a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0002g0031 a0001c0001t0003g0120 others(5): Show |
9 | 454 | 0.0198 | -6 | c.*26 others(17): Show |
SEC14L3 | ENSG00000100012.12 | transcript | ENST00000215812.9 | protein_coding | 1851 | chr22 | TogoVar | |||||||
SEC14L4_chr22_30483902_30510695 | 30498934 | AATTATT | A | intron_variant | MODIFIER | HG00673.hp2 HG02056.hp2 HG02083.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0089 a0001c0001t0001g0090 |
4 | 424 | 0.0094 | -6 | c.131 others(23): Show |
SEC14L4 | ENSG00000133488.15 | transcript | ENST00000255858.12 | protein_coding | 2/11 | chr22 | TogoVar | |||||||
SEC14L5_chr16_4953330_5024157 | 4955461 | GGCATGT | G | upstream_gene_variant | MODIFIER | HG00597.hp2 HG02015.hp2 HG02040.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0023others(2): Show | a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0003g0219 others(4): Show |
7 | 376 | 0.0186 | -6 | c.-30 others(17): Show |
SEC14L5 | ENSG00000103184.12 | transcript | ENST00000251170.12 | protein_coding | 2868 | chr16 | TogoVar | |||||||
SEC14L5_chr16_4953330_5024157 | 4967561 | CGTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(86): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(17): Show | a0001c0001t0001g0168 a0001c0001t0001g0189 a0001c0001t0001g0207 others(86): Show |
89 | 376 | 0.2367 | -6 | c.63+ others(21): Show |
SEC14L5 | ENSG00000103184.12 | transcript | ENST00000251170.12 | protein_coding | 2/15 | chr16 | TogoVar | |||||||
SEC14L5_chr16_4953330_5024157 | 4967562 | GTTTTTT | G | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02486.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0006a0001c0001t0020a0001c0001t0025others(9): Show | a0001c0001t0006g0092 a0001c0001t0020g0243 a0001c0001t0025g0260 others(10): Show |
13 | 376 | 0.0346 | -6 | c.63+ others(21): Show |
SEC14L5 | ENSG00000103184.12 | transcript | ENST00000251170.12 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SEC14L5_chr16_4953330_5024157 | 4981255 | GTTTTTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0017others(8): Show | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 others(15): Show |
18 | 376 | 0.0479 | -6 | c.64- others(21): Show |
SEC14L5 | ENSG00000103184.12 | transcript | ENST00000251170.12 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SEC16B_chr1_177923788_177975058 | 177949383 | AACACAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01070.hp2 others(35): Show |
a0001a0003a0004others(5): Show | a0001c0004a0001c0005a0001c0006others(11): Show | a0001c0004t0001a0001c0005t0001a0001c0006t0001others(12): Show | a0001c0004t0001g0045 a0001c0004t0001g0259 a0001c0005t0001g0022 others(27): Show |
38 | 408 | 0.0931 | -6 | c.154 others(25): Show |
SEC16B | ENSG00000120341.19 | transcript | ENST00000308284.11 | protein_coding | 12/25 | chr1 | TogoVar | |||||||
SEC16B_chr1_177923788_177975058 | 177971457 | GGGAAGA | G | upstream_gene_variant | MODIFIER | HG01346.hp1 HG02109.hp1 HG02809.hp2 others(3): Show |
a0001a0005a0011others(1): Show | a0001c0006a0001c0007a0005c0016others(2): Show | a0001c0006t0007a0001c0007t0001a0005c0016t0003others(2): Show | a0001c0006t0007g0253 a0001c0007t0001g0044 a0005c0016t0003g0252 others(2): Show |
6 | 408 | 0.0147 | -6 | c.-16 others(17): Show |
SEC16B | ENSG00000120341.19 | transcript | ENST00000308284.11 | protein_coding | 1400 | chr1 | TogoVar | |||||||
SEC22A_chr3_123196943_123279136 | 123203053 | CTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG01109.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020a0001c0001t0021 | a0001c0001t0003g0004 a0001c0001t0003g0035 a0001c0001t0003g0036 others(24): Show |
28 | 340 | 0.0824 | -6 | c.-20 others(23): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEC22A_chr3_123196943_123279136 | 123220875 | TATATAC | T | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG01934.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(9): Show |
12 | 340 | 0.0353 | -6 | c.183 others(23): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEC22A_chr3_123196943_123279136 | 123241002 | TACACAC | T | intron_variant | MODIFIER | HG00741.hp1 HG02056.hp2 NA18942.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0071 a0001c0001t0003g0025 a0001c0001t0003g0046 |
3 | 340 | 0.0088 | -6 | c.542 others(23): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |