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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEC24A_chr5_134643785_134732909 | 134699301 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 |
a0004 | a0004c0005a0004c0014 | a0004c0005t0001a0004c0014t0001 | a0004c0005t0001g0018 a0004c0014t0001g0019 |
2 | 282 | 0.0071 | 25 | c.226 others(44): Show |
SEC24A | ENSG00000113615.13 | transcript | ENST00000398844.7 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SEC61G_chr7_54747253_54764211 | 54760999 | T | TAAAAAAA others(18): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 HG02698.hp1 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 |
3 | 127 | 0.0236 | 25 | c.-18 others(36): Show |
SEC61G | ENSG00000132432.14 | transcript | ENST00000352861.9 | protein_coding | 1789 | chr7 | TogoVar | |||||||
SEC63_chr6_107862756_107963208 | 107959154 | A | ATTTGAAT others(18): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(120): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(24): Show | a0001c0001t0001g0004 a0001c0001t0001g0059 a0001c0001t0001g0062 others(119): Show |
123 | 330 | 0.3727 | 25 | c.-11 others(36): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 947 | chr6 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13939035 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0211 |
3 | 250 | 0.0120 | 25 | c.115 others(42): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13939040 | G | GGTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 |
a0003 | a0003c0012 | a0003c0012t0002 | a0003c0012t0002g0055 a0003c0012t0002g0056 |
2 | 12 | 0.1667 | 25 | c.115 others(42): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13983023 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01169.hp1 HG01943.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0003 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(20): Show |
23 | 30 | 0.7667 | 25 | c.58+ others(40): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 1/19 | chr20 | TogoVar | |||||||
SELENBP1_chr1_151359304_151377705 | 151367355 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG01081.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0023 others(15): Show |
35 | 115 | 0.3043 | 25 | c.482 others(40): Show |
SELENBP1 | ENSG00000143416.21 | transcript | ENST00000368868.10 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SELENOF_chr1_86857445_86919126 | 86910595 | T | TTGGGAGG others(18): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(49): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0002t0002 | a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0009 others(45): Show |
52 | 207 | 0.2512 | 25 | c.84+ others(40): Show |
SELENOF | ENSG00000183291.18 | transcript | ENST00000331835.10 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
SELENOI_chr2_26341143_26400885 | 26381198 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0252 | 1 | 22 | 0.0455 | 25 | c.683 others(42): Show |
SELENOI | ENSG00000138018.19 | transcript | ENST00000260585.12 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SELENOT_chr3_150598321_150635436 | 150631202 | C | CAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 HG03130.hp1 HG03453.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0047 others(3): Show |
7 | 37 | 0.1892 | 25 | c.*35 others(36): Show |
SELENOT | ENSG00000198843.14 | transcript | ENST00000471696.6 | protein_coding | 767 | chr3 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 83980623 | A | AACAAAAC others(18): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0073 | 1 | 83 | 0.0120 | 25 | c.165 others(42): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 14/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83389958 | A | ACGTATAC others(18): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00733.hp2 HG01928.hp1 others(7): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0028 a0001c0003t0001g0031 a0001c0003t0001g0032 others(7): Show |
10 | 152 | 0.0658 | 25 | c.166 others(44): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 14/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83456622 | A | ATTTATTT others(18): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0186 | 1 | 14 | 0.0714 | 25 | c.456 others(42): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83570553 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02055.hp1 HG02630.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0017a0001c0001t0025a0001c0001t0027others(4): Show | a0001c0001t0017g0003 a0001c0001t0025g0001 a0001c0001t0027g0007 others(4): Show |
7 | 223 | 0.0314 | 25 | c.115 others(44): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89461700 | C | CTCTCTCT others(18): Show |
intron_variant | MODIFIER | HG02132.hp1 HG04115.hp2 NA19054.hp2 others(1): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0007a0001c0004t0004a0001c0004t0039 | a0001c0003t0007g0192 a0001c0004t0004g0039 a0001c0004t0004g0044 others(1): Show |
4 | 129 | 0.0310 | 25 | c.-30 others(44): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 1/15 | chr9 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9353082 | A | AGGAAGGA others(18): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02258.hp1 HG03225.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0013a0001c0001t0056a0001c0003t0001others(2): Show | a0001c0001t0013g0036 a0001c0001t0056g0096 a0001c0003t0001g0027 others(2): Show |
5 | 127 | 0.0394 | 25 | c.125 others(44): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9353096 | A | AGAAGGAA others(18): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0010 | a0001c0010t0075 | a0001c0010t0075g0107 | 1 | 50 | 0.0200 | 25 | c.125 others(44): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9353189 | G | GGGAAAGG others(18): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03831.hp2 NA18961.hp1 others(4): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0063a0001c0003t0006a0001c0004t0005others(4): Show | a0001c0002t0063g0100 a0001c0003t0006g0047 a0001c0004t0005g0050 others(4): Show |
7 | 29 | 0.2414 | 25 | c.125 others(44): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9353236 | G | GAAAGGAA others(18): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0008 | a0001c0008t0027 | a0001c0008t0027g0035 | 1 | 122 | 0.0082 | 25 | c.125 others(44): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9353354 | G | GAAGGAAA others(18): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0008 | a0001c0008t0027 | a0001c0008t0027g0035 | 1 | 26 | 0.0385 | 25 | c.125 others(44): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9353386 | A | AGGAAAGG others(18): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03540.hp1 |
a0001 | a0001c0005a0001c0011 | a0001c0005t0001a0001c0011t0037 | a0001c0005t0001g0005 a0001c0011t0037g0065 |
2 | 124 | 0.0161 | 25 | c.125 others(44): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9426432 | T | TAAATAAA others(18): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01123.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0015a0001c0001t0019a0001c0001t0053others(9): Show | a0001c0001t0015g0092 a0001c0001t0015g0093 a0001c0001t0019g0118 others(10): Show |
13 | 22 | 0.5909 | 25 | c.-78 others(44): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 2/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9468598 | C | CTACCTGT others(18): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(103): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(87): Show | a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 others(103): Show |
106 | 132 | 0.8030 | 25 | c.-17 others(46): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
SEMA5B_chr3_122904082_123032763 | 122935686 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0227 | 1 | 15 | 0.0667 | 25 | c.474 others(42): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 5/22 | chr3 | TogoVar | |||||||
SENP2_chr3_185581295_185638551 | 185587570 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01981.hp1 NA18942.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0009a0002c0002t0068a0002c0002t0094 | a0002c0002t0009g0332 a0002c0002t0009g0334 a0002c0002t0068g0336 others(1): Show |
4 | 209 | 0.0191 | 25 | c.101 others(42): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP5_chr3_196862920_196939714 | 196914586 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0033 | 1 | 67 | 0.0149 | 25 | c.188 others(44): Show |
SENP5 | ENSG00000119231.11 | transcript | ENST00000323460.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP5_chr3_196862920_196939714 | 196914586 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02523.hp2 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 a0001c0001t0002g0042 a0001c0001t0002g0044 |
3 | 69 | 0.0435 | 25 | c.188 others(44): Show |
SENP5 | ENSG00000119231.11 | transcript | ENST00000323460.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP5_chr3_196862920_196939714 | 196914586 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 67 | 0.0149 | 25 | c.188 others(44): Show |
SENP5 | ENSG00000119231.11 | transcript | ENST00000323460.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP5_chr3_196862920_196939714 | 196914586 | A | AAAAAAAT others(18): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0020 | 1 | 67 | 0.0149 | 25 | c.188 others(44): Show |
SENP5 | ENSG00000119231.11 | transcript | ENST00000323460.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP6_chr6_75596880_75723281 | 75719958 | A | ATTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0165 | 1 | 165 | 0.0061 | 25 | c.*43 others(36): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 1678 | chr6 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101410845 | A | AAAAATAA others(18): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00621.hp2 others(74): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0196 others(74): Show |
77 | 154 | 0.5000 | 25 | c.482 others(42): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 5/23 | chr3 | TogoVar | |||||||
SEPTIN10_chr2_109537799_109618966 | 109604383 | A | AAGGGGAG others(18): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01175.hp1 HG01891.hp2 others(15): Show |
a0001a0004 | a0001c0001a0001c0007a0004c0005 | a0001c0001t0004a0001c0007t0004a0004c0005t0004 | a0001c0001t0004g0180 a0001c0001t0004g0195 a0001c0001t0004g0218 others(15): Show |
18 | 71 | 0.2535 | 25 | c.30+ others(40): Show |
SEPTIN10 | ENSG00000186522.15 | transcript | ENST00000397712.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
SEPTIN2_chr2_241310925_241359027 | 241338962 | A | ATTATAAA others(18): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0015 | 1 | 406 | 0.0025 | 25 | c.594 others(42): Show |
SEPTIN2 | ENSG00000168385.18 | transcript | ENST00000391971.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SEPTIN7_chr7_35796057_35912110 | 35839523 | T | TTTATGTT others(18): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 33 | 0.0303 | 25 | c.169 others(42): Show |
SEPTIN7 | ENSG00000122545.22 | transcript | ENST00000350320.11 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SERAC1_chr6_158104519_158173262 | 158169360 | A | ATATATAT others(18): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 361 | 0.0028 | 25 | c.-12 others(36): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1099 | chr6 | TogoVar | |||||||
SERAC1_chr6_158104519_158173262 | 158169397 | T | TATTGTAT others(18): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 283 | 0.0035 | 25 | c.-12 others(36): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1136 | chr6 | TogoVar | |||||||
SERBP1_chr1_67402810_67435402 | 67403927 | A | AAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0074 | 1 | 95 | 0.0105 | 25 | c.*92 others(36): Show |
SERBP1 | ENSG00000142864.15 | transcript | ENST00000361219.11 | protein_coding | 3882 | chr1 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17896853 | T | TAAGGGAA others(18): Show |
intron_variant | MODIFIER | NA18906.hp1 NA18943.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0129 a0001c0002t0001g0022 |
2 | 103 | 0.0194 | 25 | c.101 others(46): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 9/10 | chr11 | TogoVar | |||||||
SERHL2_chr22_42548956_42579382 | 42559229 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02056.hp1 NA19003.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0238 a0002c0002t0001g0247 a0002c0002t0001g0324 |
3 | 122 | 0.0246 | 25 | c.533 others(40): Show |
SERHL2 | ENSG00000183569.18 | transcript | ENST00000327678.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SERINC1_chr6_122438351_122476807 | 122441327 | C | CAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 NA18953.hp1 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0185 a0001c0001t0002g0094 |
3 | 60 | 0.0500 | 25 | c.*37 others(36): Show |
SERINC1 | ENSG00000111897.7 | transcript | ENST00000339697.5 | protein_coding | 2023 | chr6 | TogoVar | |||||||
SERINC1_chr6_122438351_122476807 | 122451776 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 70 | 0.0143 | 25 | c.760 others(38): Show |
SERINC1 | ENSG00000111897.7 | transcript | ENST00000339697.5 | protein_coding | 6/9 | chr6 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31414421 | T | TGTGTGTG others(18): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02630.hp2 NA18997.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0281 a0002c0002t0001g0341 a0002c0002t0001g0352 others(1): Show |
4 | 41 | 0.0976 | 25 | c.39+ others(40): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80228261 | A | AGGAAAGG others(18): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0212 | 1 | 284 | 0.0035 | 25 | c.28- others(42): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
SERPINA5_chr14_94576426_94598118 | 94591549 | G | GTTCTATT others(18): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00597.hp2 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(13): Show | a0001c0001t0001g0012 a0001c0001t0001g0199 a0001c0001t0001g0202 others(31): Show |
47 | 139 | 0.3381 | 25 | c.103 others(42): Show |
SERPINA5 | ENSG00000188488.14 | transcript | ENST00000329597.12 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SERPINA5_chr14_94576426_94598118 | 94591549 | G | GTTCTGTT others(18): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0139 | 1 | 93 | 0.0108 | 25 | c.103 others(42): Show |
SERPINA5 | ENSG00000188488.14 | transcript | ENST00000329597.12 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SERPINB11_chr18_63697960_63728893 | 63709616 | T | TAAATAAA others(18): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(122): Show |
a0002a0003a0005others(4): Show | a0002c0001a0003c0003a0005c0006others(5): Show | a0002c0001t0001a0002c0001t0003a0002c0001t0008others(8): Show | a0002c0001t0001g0002 a0002c0001t0001g0020 a0002c0001t0001g0032 others(32): Show |
125 | 329 | 0.3799 | 25 | c.-15 others(40): Show |
SERPINB11 | ENSG00000206072.13 | transcript | ENST00000544088.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB12_chr18_63537369_63574329 | 63559062 | C | CTCTTTCT others(18): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 399 | 0.0025 | 25 | c.304 others(40): Show |
SERPINB12 | ENSG00000166634.7 | transcript | ENST00000382768.2 | protein_coding | 3/7 | chr18 | TogoVar | |||||||
SERPINB4_chr18_63632259_63649256 | 63636674 | T | TTTAGCTA others(18): Show |
downstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 25 | c.*10 others(36): Show |
SERPINB4 | ENSG00000206073.11 | transcript | ENST00000341074.10 | protein_coding | 584 | chr18 | TogoVar | |||||||
SERPINB7_chr18_63770418_63810370 | 63783235 | A | AGAAAGAA others(18): Show |
intron_variant | MODIFIER | HG02818.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0216 a0001c0001t0014g0300 |
2 | 429 | 0.0047 | 25 | c.168 others(40): Show |
SERPINB7 | ENSG00000166396.13 | transcript | ENST00000398019.7 | protein_coding | 2/7 | chr18 | TogoVar | |||||||
SERPIND1_chr22_20769113_20792720 | 20780775 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01433.hp1 HG02071.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0013 a0001c0001t0001g0043 a0001c0001t0001g0046 others(3): Show |
9 | 179 | 0.0503 | 25 | c.889 others(40): Show |
SERPIND1 | ENSG00000099937.11 | transcript | ENST00000215727.10 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |