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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STT3B_chr3_31527925_31642616 | 31618937 | TTATAA | T | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02055.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 others(15): Show |
18 | 340 | 0.0529 | -5 | c.117 others(22): Show |
STT3B | ENSG00000163527.10 | transcript | ENST00000295770.4 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STUM_chr1_226543764_226614230 | 226548159 | ATTTTT | A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(110): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0044 others(93): Show |
113 | 183 | 0.6175 | -5 | c.-74 others(14): Show |
STUM | ENSG00000203685.11 | transcript | ENST00000366788.8 | protein_coding | 604 | chr1 | TogoVar | |||||||
STX10_chr19_13139058_13155375 | 13141626 | ATTTTC | A | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG00735.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0055 others(7): Show |
17 | 326 | 0.0521 | -5 | c.*27 others(16): Show |
STX10 | ENSG00000104915.15 | transcript | ENST00000587230.6 | protein_coding | 2431 | chr19 | TogoVar | |||||||
STX10_chr19_13139058_13155375 | 13148062 | CAAAAA | C | intron_variant | MODIFIER | HG01070.hp2 HG01109.hp1 HG01167.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0055 a0001c0001t0001g0072 others(14): Show |
25 | 41 | 0.6098 | -5 | c.363 others(20): Show |
STX10 | ENSG00000104915.15 | transcript | ENST00000587230.6 | protein_coding | 4/7 | chr19 | TogoVar | |||||||
STX11_chr6_144145517_144196939 | 144156048 | TTCCCC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(96): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(79): Show |
99 | 365 | 0.2712 | -5 | c.-6+ others(20): Show |
STX11 | ENSG00000135604.11 | transcript | ENST00000367568.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STX12_chr1_27768219_27829443 | 27824672 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0032 others(11): Show |
16 | 127 | 0.1260 | -5 | c.*23 others(16): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 230 | chr1 | TogoVar | |||||||
STX12_chr1_27768219_27829443 | 27825704 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0010 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(29): Show |
36 | 116 | 0.3103 | -5 | c.*33 others(16): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1262 | chr1 | TogoVar | |||||||
STX16_chr20_58646283_58684526 | 58671425 | TATGTG | T | intron_variant | MODIFIER | HG01255.hp1 HG02896.hp1 HG03491.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(1): Show | a0001c0001t0002g0113 a0001c0001t0002g0197 a0001c0001t0004g0104 others(3): Show |
6 | 269 | 0.0223 | -5 | c.792 others(20): Show |
STX16 | ENSG00000124222.23 | transcript | ENST00000371141.8 | protein_coding | 7/8 | chr20 | TogoVar | |||||||
STX17_chr9_99901654_99979534 | 99928420 | ATATCT | A | intron_variant | MODIFIER | HG02109.hp2 HG02809.hp1 HG02897.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0004a0004c0004t0004 | a0001c0001t0004g0012 a0001c0001t0004g0134 a0001c0001t0004g0135 others(3): Show |
8 | 292 | 0.0274 | -5 | c.124 others(20): Show |
STX17 | ENSG00000136874.11 | transcript | ENST00000259400.11 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
STX18_chr4_4413968_4547048 | 4489391 | ATTTTT | A | intron_variant | MODIFIER | HG00280.hp2 HG01891.hp2 HG02572.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0007t0002others(1): Show | a0001c0001t0002g0038 a0001c0001t0002g0079 a0001c0001t0003g0011 others(5): Show |
8 | 33 | 0.2424 | -5 | c.169 others(24): Show |
STX18 | ENSG00000168818.10 | transcript | ENST00000306200.7 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
STX18_chr4_4413968_4547048 | 4510658 | TACCCA | T | intron_variant | MODIFIER | HG01106.hp2 HG02280.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 others(3): Show |
6 | 244 | 0.0246 | -5 | c.168 others(24): Show |
STX18 | ENSG00000168818.10 | transcript | ENST00000306200.7 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
STX18_chr4_4413968_4547048 | 4526767 | GAGGTC | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG01070.hp2 others(59): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0050 a0001c0001t0001g0066 a0001c0001t0001g0067 others(58): Show |
62 | 244 | 0.2541 | -5 | c.168 others(24): Show |
STX18 | ENSG00000168818.10 | transcript | ENST00000306200.7 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
STX18_chr4_4413968_4547048 | 4544921 | CCTTTA | C | upstream_gene_variant | MODIFIER | HG02572.hp2 HG02717.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 others(3): Show |
6 | 244 | 0.0246 | -5 | c.-29 others(16): Show |
STX18 | ENSG00000168818.10 | transcript | ENST00000306200.7 | protein_coding | 2874 | chr4 | TogoVar | |||||||
STX19_chr3_94009365_94033597 | 94029333 | TATTTA | T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG00738.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(13): Show |
55 | 384 | 0.1432 | -5 | c.-98 others(14): Show |
STX19 | ENSG00000178750.3 | transcript | ENST00000315099.3 | protein_coding | 737 | chr3 | TogoVar | |||||||
STX1B_chr16_30984256_31015638 | 30994892 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(105): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0023 others(59): Show |
108 | 125 | 0.8640 | -5 | c.538 others(22): Show |
STX1B | ENSG00000099365.11 | transcript | ENST00000215095.11 | protein_coding | 7/9 | chr16 | TogoVar | |||||||
STX1B_chr16_30984256_31015638 | 31013386 | CTTCTT | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01496.hp1 HG02145.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0011a0001c0001t0012others(3): Show | a0001c0001t0005g0037 a0001c0001t0005g0156 a0001c0001t0011g0149 others(5): Show |
8 | 280 | 0.0286 | -5 | c.-29 others(16): Show |
STX1B | ENSG00000099365.11 | transcript | ENST00000215095.11 | protein_coding | 2749 | chr16 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130786667 | CAAAAT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(186): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(159): Show |
189 | 377 | 0.5013 | -5 | c.*53 others(16): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 2932 | chr12 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130813790 | CAGAAG | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(231): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0004a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(200): Show |
234 | 378 | 0.6190 | -5 | c.206 others(20): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130818186 | ATATAT | A | intron_variant | MODIFIER | HG02258.hp2 HG02896.hp1 HG02896.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0003c0003t0003 | a0001c0001t0001g0154 a0001c0001t0001g0169 a0002c0002t0002g0090 others(3): Show |
6 | 197 | 0.0305 | -5 | c.205 others(22): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130843445 | ATACAT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01081.hp1 others(9): Show |
a0001a0002a0008 | a0001c0004a0002c0002a0008c0012 | a0001c0004t0004a0001c0004t0015a0002c0002t0019others(2): Show | a0001c0004t0004g0012 a0001c0004t0004g0037 a0001c0004t0004g0041 others(8): Show |
12 | 378 | 0.0317 | -5 | c.-43 others(16): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 4196 | chr12 | TogoVar | |||||||
STX6_chr1_180967725_181027870 | 181012664 | CTTCCA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0002t0001g0303 others(24): Show |
27 | 348 | 0.0776 | -5 | c.36- others(20): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
STX6_chr1_180967725_181027870 | 181020348 | TATCTC | T | intron_variant | MODIFIER | HG02071.hp1 NA18951.hp1 NA18962.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0006 a0001c0002t0005g0094 a0001c0002t0005g0095 |
4 | 348 | 0.0115 | -5 | c.35+ others(20): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
STX6_chr1_180967725_181027870 | 181023045 | TCTCTC | T | upstream_gene_variant | MODIFIER | HG03654.hp1 HG04184.hp2 NA18948.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0248 a0001c0002t0002g0019 a0001c0002t0002g0021 others(2): Show |
5 | 346 | 0.0145 | -5 | c.-37 others(14): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 176 | chr1 | TogoVar | |||||||
STX6_chr1_180967725_181027870 | 181023113 | CTCTCT | C | upstream_gene_variant | MODIFIER | HG01943.hp2 HG01978.hp1 HG02293.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0004 a0001c0002t0002g0002 a0001c0002t0002g0271 |
5 | 290 | 0.0172 | -5 | c.-44 others(14): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 244 | chr1 | TogoVar | |||||||
STX6_chr1_180967725_181027870 | 181025014 | GCTTCC | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00558.hp1 others(112): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(10): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(104): Show |
115 | 348 | 0.3305 | -5 | c.-23 others(16): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 2145 | chr1 | TogoVar | |||||||
STX7_chr6_132440867_132518116 | 132490965 | GCAGCA | G | intron_variant | MODIFIER | HG02300.hp2 HG02451.hp1 HG02976.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0003g0080 a0001c0001t0006g0066 a0001c0001t0007g0213 others(4): Show |
7 | 151 | 0.0464 | -5 | c.85+ others(22): Show |
STX7 | ENSG00000079950.14 | transcript | ENST00000367941.7 | protein_coding | 2/9 | chr6 | TogoVar | |||||||
STX7_chr6_132440867_132518116 | 132505760 | AAAAAC | A | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG01934.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0003g0012 others(27): Show |
34 | 378 | 0.0899 | -5 | c.-58 others(22): Show |
STX7 | ENSG00000079950.14 | transcript | ENST00000367941.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
STX7_chr6_132440867_132518116 | 132509452 | AATAAC | A | intron_variant | MODIFIER | HG00544.hp2 HG02615.hp1 HG02683.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0015others(6): Show | a0001c0001t0002g0085 a0001c0001t0014g0132 a0001c0001t0015g0016 others(7): Show |
11 | 66 | 0.1667 | -5 | c.-59 others(22): Show |
STX7 | ENSG00000079950.14 | transcript | ENST00000367941.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
STX7_chr6_132440867_132518116 | 132509512 | CATAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG02129.hp2 HG02300.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0022a0001c0001t0102others(1): Show | a0001c0001t0017g0106 a0001c0001t0017g0107 a0001c0001t0022g0287 others(2): Show |
5 | 33 | 0.1515 | -5 | c.-59 others(22): Show |
STX7 | ENSG00000079950.14 | transcript | ENST00000367941.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9279056 | TTTTTG | T | intron_variant | MODIFIER | HG02145.hp1 HG02976.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0122 a0001c0002t0001g0008 a0001c0002t0001g0011 others(3): Show |
6 | 186 | 0.0323 | -5 | c.644 others(24): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9282129 | ATGTTT | A | intron_variant | MODIFIER | HG01081.hp1 HG01123.hp1 HG01167.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0128 a0001c0001t0002g0085 a0001c0001t0002g0116 others(3): Show |
6 | 184 | 0.0326 | -5 | c.644 others(24): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9288140 | CAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG01069.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0075 a0001c0001t0001g0099 a0001c0001t0001g0106 others(27): Show |
30 | 122 | 0.2459 | -5 | c.644 others(24): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9306433 | TTGAAG | T | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01069.hp2 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0121 others(50): Show |
53 | 186 | 0.2849 | -5 | c.644 others(24): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9317771 | GAAAAA | G | intron_variant | MODIFIER | HG00558.hp1 HG01192.hp1 HG01257.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0002g0136 others(5): Show |
8 | 161 | 0.0497 | -5 | c.643 others(24): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9338048 | ATTTTT | A | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02258.hp1 others(9): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(4): Show | a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0010 others(9): Show |
12 | 114 | 0.1053 | -5 | c.643 others(24): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9343018 | CAAAAA | C | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0002a0001c0004a0001c0008 | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(2): Show | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 others(6): Show |
9 | 45 | 0.2000 | -5 | c.643 others(24): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9372283 | AAGTTT | A | intron_variant | MODIFIER | HG00673.hp2 HG01257.hp1 HG01258.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0073 others(14): Show |
17 | 186 | 0.0914 | -5 | c.643 others(22): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9386104 | CAAAAA | C | intron_variant | MODIFIER | HG01255.hp2 HG01346.hp1 HG02683.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(2): Show | a0001c0001t0001g0115 a0001c0001t0001g0163 a0001c0001t0001g0168 others(6): Show |
9 | 64 | 0.1406 | -5 | c.542 others(22): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9429746 | ATATAT | A | intron_variant | MODIFIER | HG01167.hp1 HG02148.hp1 HG02486.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0001others(3): Show | a0001c0001t0002g0085 a0001c0001t0002g0171 a0001c0002t0002g0038 others(4): Show |
7 | 186 | 0.0376 | -5 | c.542 others(24): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9429869 | ATATAT | A | intron_variant | MODIFIER | HG01123.hp2 HG01255.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0163 a0001c0004t0002g0145 |
2 | 177 | 0.0113 | -5 | c.542 others(24): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9429937 | TATAGA | T | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01069.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0168 a0001c0001t0002g0130 a0001c0001t0002g0137 others(4): Show |
7 | 186 | 0.0376 | -5 | c.542 others(24): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9429976 | TATAGA | T | intron_variant | MODIFIER | HG01081.hp1 HG01993.hp2 HG02738.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001a0001c0003t0002 | a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0003t0001g0031 others(1): Show |
4 | 185 | 0.0216 | -5 | c.542 others(24): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9464719 | ATTGTT | A | intron_variant | MODIFIER | HG00323.hp1 HG01069.hp2 HG01167.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0121 a0001c0001t0001g0141 a0001c0002t0002g0025 others(9): Show |
12 | 186 | 0.0645 | -5 | c.541 others(24): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9496406 | ATCATG | A | intron_variant | MODIFIER | HG02145.hp2 HG02572.hp2 HG02615.hp2 others(1): Show |
a0001 | a0001c0003a0001c0008 | a0001c0003t0001a0001c0003t0002a0001c0008t0002 | a0001c0003t0001g0001 a0001c0003t0001g0032 a0001c0003t0002g0040 others(1): Show |
4 | 186 | 0.0215 | -5 | c.449 others(22): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9506201 | GCTCCT | G | intron_variant | MODIFIER | HG02630.hp2 HG02922.hp2 HG03041.hp2 others(6): Show |
a0001 | a0001c0002a0001c0004a0001c0005others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(2): Show | a0001c0002t0001g0008 a0001c0002t0001g0070 a0001c0002t0002g0002 others(6): Show |
9 | 186 | 0.0484 | -5 | c.324 others(22): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9509752 | CAAGAT | C | intron_variant | MODIFIER | HG02630.hp2 HG02922.hp2 HG03041.hp2 others(6): Show |
a0001 | a0001c0002a0001c0004a0001c0005others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(2): Show | a0001c0002t0001g0008 a0001c0002t0001g0070 a0001c0002t0002g0002 others(6): Show |
9 | 186 | 0.0484 | -5 | c.324 others(22): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9535038 | AAATAG | A | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01346.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0003t0001 | a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 others(3): Show |
6 | 186 | 0.0323 | -5 | c.323 others(24): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9572409 | GTTTGT | G | intron_variant | MODIFIER | HG01167.hp2 HG01257.hp1 HG01258.hp1 others(36): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0009 | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 others(36): Show |
39 | 186 | 0.2097 | -5 | c.17+ others(20): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
STXBP1_chr9_127607277_127697699 | 127611230 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG02155.hp1 HG02165.hp2 NA18947.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0065 a0001c0001t0001g0095 a0001c0001t0003g0119 others(6): Show |
9 | 42 | 0.2143 | -5 | c.-11 others(16): Show |
STXBP1 | ENSG00000136854.25 | transcript | ENST00000373299.5 | protein_coding | 1046 | chr9 | TogoVar | |||||||
STXBP1_chr9_127607277_127697699 | 127639078 | ATATGT | A | intron_variant | MODIFIER | NA18964.hp1 NA18995.hp1 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0039 |
3 | 298 | 0.0101 | -5 | c.38- others(22): Show |
STXBP1 | ENSG00000136854.25 | transcript | ENST00000373299.5 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |