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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STRADB_chr2_201446740_201485846 | 201468085 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(57): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0003a0001c0003t0008 | a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 others(31): Show |
60 | 271 | 0.2214 | -7 | c.94- others(22): Show |
STRADB | ENSG00000082146.13 | transcript | ENST00000194530.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
STRBP_chr9_123116617_123273586 | 123164046 | GTTTTGTT | G | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG02132.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0001g0007 a0001c0001t0005g0023 a0001c0001t0005g0060 others(15): Show |
18 | 234 | 0.0769 | -7 | c.536 others(24): Show |
STRBP | ENSG00000165209.19 | transcript | ENST00000348403.10 | protein_coding | 6/18 | chr9 | TogoVar | |||||||
STRBP_chr9_123116617_123273586 | 123181800 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG02055.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0001g0074 a0001c0001t0005g0023 a0001c0001t0005g0060 others(14): Show |
17 | 22 | 0.7727 | -7 | c.3+2 others(20): Show |
STRBP | ENSG00000165209.19 | transcript | ENST00000348403.10 | protein_coding | 3/18 | chr9 | TogoVar | |||||||
STRBP_chr9_123116617_123273586 | 123234200 | CAAAAAAA | C | intron_variant | MODIFIER | HG02145.hp2 HG02809.hp2 HG02965.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0018a0001c0001t0040others(1): Show | a0001c0001t0008g0139 a0001c0001t0008g0142 a0001c0001t0008g0143 others(6): Show |
9 | 143 | 0.0629 | -7 | c.-16 others(26): Show |
STRBP | ENSG00000165209.19 | transcript | ENST00000348403.10 | protein_coding | 2/18 | chr9 | TogoVar | |||||||
STRBP_chr9_123116617_123273586 | 123235584 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(109): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(109): Show |
112 | 153 | 0.7320 | -7 | c.-16 others(26): Show |
STRBP | ENSG00000165209.19 | transcript | ENST00000348403.10 | protein_coding | 2/18 | chr9 | TogoVar | |||||||
STRC_chr15_43594563_43623800 | 43596775 | GCTGTTGA | G | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01243.hp1 HG01243.hp2 others(46): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0005t0001g0012 others(29): Show |
49 | 372 | 0.1317 | -7 | c.*28 others(18): Show |
STRC | ENSG00000242866.10 | transcript | ENST00000450892.7 | protein_coding | 2787 | chr15 | TogoVar | |||||||
STRIP2_chr7_129429432_129493399 | 129450918 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(182): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0009a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(129): Show |
185 | 198 | 0.9343 | -7 | c.275 others(22): Show |
STRIP2 | ENSG00000128578.10 | transcript | ENST00000249344.7 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
STRIP2_chr7_129429432_129493399 | 129486996 | CTTTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG00673.hp2 HG00733.hp1 HG01258.hp2 others(16): Show |
a0001a0009 | a0001c0001a0009c0012 | a0001c0001t0009a0001c0001t0010a0001c0001t0013others(2): Show | a0001c0001t0009g0031 a0001c0001t0009g0032 a0001c0001t0009g0241 others(14): Show |
19 | 37 | 0.5135 | -7 | c.*11 others(18): Show |
STRIP2 | ENSG00000128578.10 | transcript | ENST00000249344.7 | protein_coding | 21/21 | 1195 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
STRN3_chr14_30888804_31031379 | 30902171 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00733.hp1 others(28): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(17): Show | a0001c0001t0004g0226 a0001c0001t0004g0288 a0001c0001t0006g0232 others(28): Show |
31 | 109 | 0.2844 | -7 | c.213 others(24): Show |
STRN3 | ENSG00000196792.12 | transcript | ENST00000357479.10 | protein_coding | 16/17 | chr14 | TogoVar | |||||||
STRN_chr2_36832698_36971536 | 36927315 | CTGTGCAA | C | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG01884.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0005a0001c0001t0017a0001c0001t0038others(4): Show | a0001c0001t0005g0090 a0001c0001t0005g0091 a0001c0001t0005g0092 others(13): Show |
16 | 300 | 0.0533 | -7 | c.235 others(24): Show |
STRN | ENSG00000115808.13 | transcript | ENST00000263918.9 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
STRN_chr2_36832698_36971536 | 36957654 | TAAAAAAC | T | intron_variant | MODIFIER | HG02615.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0015 | a0001c0001t0012g0285 a0001c0001t0012g0286 a0001c0001t0015g0283 others(1): Show |
4 | 300 | 0.0133 | -7 | c.234 others(24): Show |
STRN | ENSG00000115808.13 | transcript | ENST00000263918.9 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
STRN_chr2_36832698_36971536 | 36957744 | CTTTTTTT | C | intron_variant | MODIFIER | HG00438.hp2 HG01070.hp1 HG01071.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0017others(8): Show | a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0005g0093 others(24): Show |
27 | 136 | 0.1985 | -7 | c.234 others(24): Show |
STRN | ENSG00000115808.13 | transcript | ENST00000263918.9 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
STS_chrX_7142712_7359641 | 7349315 | CCTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(65): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(12): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0016 others(65): Show |
68 | 151 | 0.4503 | -7 | c.136 others(24): Show |
STS | ENSG00000101846.9 | transcript | ENST00000674429.1 | protein_coding | 10/10 | chrX | TogoVar | |||||||
STX11_chr6_144145517_144196939 | 144155946 | CTTTCTTT | C | intron_variant | MODIFIER | HG02132.hp1 HG02622.hp1 HG02965.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0002g0015 a0001c0001t0003g0257 others(3): Show |
10 | 341 | 0.0293 | -7 | c.-6+ others(22): Show |
STX11 | ENSG00000135604.11 | transcript | ENST00000367568.5 | protein_coding | 1/1 | chr6 | TogoVar | |||||||
STX16_chr20_58646283_58684526 | 58671425 | TATGTGTG | T | intron_variant | MODIFIER | HG01515.hp1 HG02109.hp1 HG02145.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0028 a0001c0001t0002g0035 a0001c0001t0004g0049 others(12): Show |
17 | 280 | 0.0607 | -7 | c.792 others(22): Show |
STX16 | ENSG00000124222.23 | transcript | ENST00000371141.8 | protein_coding | 7/8 | chr20 | TogoVar | |||||||
STX18_chr4_4413968_4547048 | 4489391 | ATTTTTTT | A | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG01255.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0004 | a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0019 others(23): Show |
26 | 51 | 0.5098 | -7 | c.169 others(26): Show |
STX18 | ENSG00000168818.10 | transcript | ENST00000306200.7 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
STX19_chr3_94009365_94033597 | 94029331 | TATATTTA | T | upstream_gene_variant | MODIFIER | HG02896.hp1 HG03471.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0092 |
4 | 386 | 0.0104 | -7 | c.-98 others(16): Show |
STX19 | ENSG00000178750.3 | transcript | ENST00000315099.3 | protein_coding | 735 | chr3 | TogoVar | |||||||
STX1A_chr7_73694210_73724669 | 73723508 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(162): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0090 others(86): Show |
165 | 352 | 0.4688 | -7 | c.-38 others(18): Show |
STX1A | ENSG00000106089.12 | transcript | ENST00000222812.8 | protein_coding | 3840 | chr7 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130818186 | ATATATAT | A | intron_variant | MODIFIER | HG00140.hp2 HG02257.hp1 HG03209.hp2 others(2): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0003c0013others(1): Show | a0001c0001t0033a0003c0003t0001a0003c0013t0001others(1): Show | a0001c0001t0033g0179 a0003c0003t0001g0066 a0003c0003t0001g0068 others(2): Show |
5 | 196 | 0.0255 | -7 | c.205 others(24): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
STX3_chr11_59750376_59810878 | 59775868 | TATATTTA | T | intron_variant | MODIFIER | HG02818.hp1 HG02976.hp1 |
a0004 | a0004c0004 | a0004c0004t0011 | a0004c0004t0011g0148 a0004c0004t0011g0149 |
2 | 216 | 0.0093 | -7 | c.114 others(24): Show |
STX3 | ENSG00000166900.17 | transcript | ENST00000337979.9 | protein_coding | 2/10 | chr11 | TogoVar | |||||||
STX3_chr11_59750376_59810878 | 59805210 | TCTTAATA | T | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01106.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(4): Show | a0001c0001t0002g0007 a0001c0001t0002g0025 a0001c0001t0002g0151 others(31): Show |
38 | 216 | 0.1759 | -7 | c.*43 others(18): Show |
STX3 | ENSG00000166900.17 | transcript | ENST00000337979.9 | protein_coding | 11/11 | 7854 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
STX5_chr11_62801860_62837051 | 62819220 | GAAAAAAA | G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp2 others(45): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0004c0006t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0020 others(38): Show |
48 | 80 | 0.6000 | -7 | c.908 others(24): Show |
STX5 | ENSG00000162236.13 | transcript | ENST00000294179.8 | protein_coding | 10/10 | chr11 | TogoVar | |||||||
STX6_chr1_180967725_181027870 | 181023043 | TCTCTCTC | T | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00738.hp2 HG01069.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0008others(1): Show | a0001c0001t0001g0203 a0001c0002t0002g0015 a0001c0002t0002g0017 others(13): Show |
17 | 347 | 0.0490 | -7 | c.-37 others(16): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 174 | chr1 | TogoVar | |||||||
STX6_chr1_180967725_181027870 | 181023113 | CTCTCTCT | C | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01071.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008 | a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0008g0241 others(1): Show |
4 | 289 | 0.0138 | -7 | c.-44 others(16): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 244 | chr1 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9252609 | CAAAAAAA | C | intron_variant | MODIFIER | HG02647.hp1 HG03239.hp1 HG03486.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0106 others(10): Show |
13 | 155 | 0.0839 | -7 | c.644 others(24): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9305719 | GTCCCCTA | G | intron_variant | MODIFIER | HG02647.hp1 HG02897.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0016 a0001c0003t0001g0046 |
2 | 186 | 0.0108 | -7 | c.644 others(26): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9327234 | GGAGGACA | G | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0002t0001g0008 a0001c0002t0001g0044 a0001c0002t0002g0062 others(3): Show |
6 | 186 | 0.0323 | -7 | c.643 others(26): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9329050 | CAAAAAAA | C | intron_variant | MODIFIER | HG01175.hp1 HG01884.hp1 HG01891.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0096 a0001c0002t0001g0007 a0001c0002t0001g0008 others(18): Show |
21 | 84 | 0.2500 | -7 | c.643 others(26): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9344258 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00558.hp2 others(141): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0073 others(141): Show |
144 | 150 | 0.9600 | -7 | c.643 others(26): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9441672 | CTTTTTTT | C | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02630.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0110 others(12): Show |
15 | 109 | 0.1376 | -7 | c.541 others(26): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9535424 | CTTTTTTT | C | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02647.hp1 others(5): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0064 others(5): Show |
8 | 9 | 0.8889 | -7 | c.323 others(24): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
STXBP4_chr17_54963765_55178632 | 54964531 | CTTTAACT | C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00673.hp2 others(35): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0034a0001c0001t0058others(16): Show | a0001c0001t0001g0199 a0001c0001t0034g0254 a0001c0001t0058g0255 others(33): Show |
38 | 376 | 0.1011 | -7 | c.-44 others(18): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 4233 | chr17 | TogoVar | |||||||
STXBP4_chr17_54963765_55178632 | 55092966 | TTTTTTTG | T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00621.hp1 others(96): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0009a0001c0012others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(45): Show | a0001c0001t0002g0344 a0001c0001t0003g0215 a0001c0001t0003g0274 others(95): Show |
99 | 376 | 0.2633 | -7 | c.148 others(28): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 55125479 | CAAAAAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02109.hp2 others(10): Show |
a0003 | a0003c0004 | a0003c0004t0013a0003c0004t0015a0003c0004t0020others(3): Show | a0003c0004t0013g0261 a0003c0004t0013g0262 a0003c0004t0013g0263 others(10): Show |
13 | 130 | 0.1000 | -7 | c.149 others(28): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121082362 | TGTGAGTG | T | intron_variant | MODIFIER | HG02165.hp2 NA18944.hp2 NA18978.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024 | a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0055 others(1): Show |
4 | 288 | 0.0139 | -7 | c.471 others(26): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121312446 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00558.hp1 others(36): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0196 others(36): Show |
39 | 92 | 0.4239 | -7 | c.211 others(26): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147258422 | AGTTTTTT | A | intron_variant | MODIFIER | HG02165.hp2 NA18967.hp2 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0300 a0001c0001t0022g0271 a0001c0001t0022g0296 |
3 | 348 | 0.0086 | -7 | c.432 others(24): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147302231 | CCCTTTAG | C | intron_variant | MODIFIER | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0006a0001c0001t0013a0001c0001t0026others(1): Show | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | 348 | 0.0345 | -7 | c.918 others(24): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24882378 | CAAAAAAA | C | intron_variant | MODIFIER | HG01070.hp2 HG02258.hp1 HG02559.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0026a0001c0001t0028others(7): Show | a0001c0001t0017g0143 a0001c0001t0026g0150 a0001c0001t0028g0149 others(7): Show |
10 | 18 | 0.5556 | -7 | c.155 others(26): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24967312 | GCTGATGC | G | intron_variant | MODIFIER | HG03579.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0066 | a0001c0001t0028g0149 a0001c0001t0066g0148 |
2 | 240 | 0.0083 | -7 | c.154 others(24): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24973375 | CTTCCTTT | C | intron_variant | MODIFIER | HG00735.hp1 HG01168.hp2 HG01169.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0024a0001c0001t0031others(10): Show | a0001c0001t0020g0137 a0001c0001t0024g0237 a0001c0001t0031g0160 others(13): Show |
16 | 193 | 0.0829 | -7 | c.154 others(24): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24996547 | AAAAAAAT | A | intron_variant | MODIFIER | HG01070.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0036a0001c0001t0078 | a0001c0001t0034g0152 a0001c0001t0034g0153 a0001c0001t0036g0155 others(1): Show |
4 | 240 | 0.0167 | -7 | c.-32 others(26): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76005852 | GGAGGAGA | G | intron_variant | MODIFIER | HG03139.hp2 HG03516.hp2 NA19003.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001 | a0001c0002t0002g0042 a0001c0003t0001g0344 a0001c0003t0001g0345 |
3 | 354 | 0.0085 | -7 | c.454 others(22): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 5/8 | chr7 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76026192 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00639.hp2 others(45): Show |
a0001a0002a0005 | a0001c0003a0001c0005a0002c0004others(1): Show | a0001c0003t0001a0001c0003t0007a0001c0003t0009others(4): Show | a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0177 others(45): Show |
48 | 55 | 0.8727 | -7 | c.165 others(24): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 3/8 | chr7 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76048981 | CGGGGGGG | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00621.hp1 others(52): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0005t0002others(1): Show | a0001c0001t0001g0337 a0001c0002t0002g0034 a0001c0002t0002g0059 others(52): Show |
55 | 186 | 0.2957 | -7 | c.-13 others(18): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 982 | chr7 | TogoVar | |||||||
STYX_chr14_52725166_52779989 | 52753892 | ATTTTTTT | A | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG01074.hp1 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(14): Show | a0001c0001t0001g0246 a0001c0001t0003g0005 a0001c0001t0003g0006 others(55): Show |
65 | 184 | 0.3533 | -7 | c.243 others(24): Show |
STYX | ENSG00000198252.12 | transcript | ENST00000354586.5 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SUCNR1_chr3_151868643_151889619 | 151874139 | TATATATA | T | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01175.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0012 | 4 | 454 | 0.0088 | -7 | c.-42 others(22): Show |
SUCNR1 | ENSG00000198829.6 | transcript | ENST00000362032.6 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
SUGP2_chr19_18985893_19038517 | 19005882 | CACACACA | C | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00642.hp1 others(36): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0012a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(9): Show | a0001c0001t0001g0014 a0001c0001t0001g0098 a0001c0001t0001g0113 others(35): Show |
39 | 300 | 0.1300 | -7 | c.245 others(26): Show |
SUGP2 | ENSG00000064607.17 | transcript | ENST00000452918.7 | protein_coding | 6/10 | chr19 | TogoVar | |||||||
SUGT1_chr13_52647836_52705909 | 52659812 | ATATTTTT | A | intron_variant | MODIFIER | HG01070.hp1 HG01257.hp1 HG01496.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0191 others(4): Show |
7 | 241 | 0.0290 | -7 | c.328 others(22): Show |
SUGT1 | ENSG00000165416.15 | transcript | ENST00000310528.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SUGT1_chr13_52647836_52705909 | 52659814 | ATTTTTTT | A | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp2 HG01496.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0011a0001c0001t0013others(8): Show | a0001c0001t0002g0013 a0001c0001t0002g0105 a0001c0001t0011g0048 others(9): Show |
15 | 124 | 0.1210 | -7 | c.328 others(22): Show |
SUGT1 | ENSG00000165416.15 | transcript | ENST00000310528.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |