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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STON1_chr2_48525154_48603513 | 48528178 | AGGTTCAA others(6): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG02559.hp1 others(4): Show |
a0001a0004a0007 | a0001c0001a0001c0003a0004c0007others(1): Show | a0001c0001t0010a0001c0003t0012a0004c0007t0001others(2): Show | a0001c0001t0010g0264 a0001c0001t0010g0301 a0001c0003t0012g0267 others(4): Show |
7 | 374 | 0.0187 | -13 | c.-20 others(24): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1975 | chr2 | TogoVar | |||||||
STON1_chr2_48525154_48603513 | 48564467 | CTTCTTCT others(6): Show |
C | intron_variant | MODIFIER | HG01358.hp2 HG01952.hp2 HG02080.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0010a0001c0003t0002others(1): Show | a0001c0001t0001g0030 a0001c0001t0001g0054 a0001c0001t0001g0115 others(8): Show |
11 | 374 | 0.0294 | -13 | c.-47 others(32): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
STON1_chr2_48525154_48603513 | 48576185 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0307 | 1 | 36 | 0.0278 | -13 | c.-47 others(30): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
STON1_chr2_48525154_48603513 | 48598894 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01884.hp1 HG02109.hp2 others(7): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0005a0001c0003t0017a0002c0002t0020others(1): Show | a0001c0003t0005g0272 a0001c0003t0005g0278 a0001c0003t0005g0285 others(7): Show |
10 | 51 | 0.1961 | -13 | c.*35 others(24): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 382 | chr2 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81306220 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01256.hp2 HG01258.hp2 others(17): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0016a0002c0001others(2): Show | a0001c0002t0005a0001c0002t0057a0001c0016t0005others(9): Show | a0001c0002t0005g0167 a0001c0002t0057g0166 a0001c0016t0005g0196 others(17): Show |
20 | 53 | 0.3774 | -13 | c.742 others(32): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81397967 | CACTTTTA others(6): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG02895.hp1 HG03139.hp2 others(1): Show |
a0001a0003a0005 | a0001c0002a0003c0003a0005c0005 | a0001c0002t0007a0001c0002t0016a0003c0003t0046others(1): Show | a0001c0002t0007g0160 a0001c0002t0016g0163 a0003c0003t0046g0162 others(1): Show |
4 | 262 | 0.0153 | -13 | c.88+ others(26): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 2/7 | chr14 | TogoVar | |||||||
STOX1_chr10_68822531_68898060 | 68872337 | CTTTTCTT others(6): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01069.hp1 others(31): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0005others(3): Show | a0001c0002t0001g0046 a0001c0003t0001g0031 a0001c0003t0001g0033 others(31): Show |
34 | 309 | 0.1100 | -13 | c.311 others(30): Show |
STOX1 | ENSG00000165730.16 | transcript | ENST00000298596.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
STOX2_chr4_183900307_184028526 | 183995291 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01975.hp1 HG02148.hp2 HG03688.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0002t0002others(1): Show | a0001c0001t0001g0085 a0001c0001t0001g0225 a0001c0001t0013g0275 others(2): Show |
5 | 121 | 0.0413 | -13 | c.167 others(30): Show |
STOX2 | ENSG00000173320.12 | transcript | ENST00000308497.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
STOX2_chr4_183900307_184028526 | 183995311 | TTTTTTTT others(6): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG04115.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0044 | a0001c0001t0001g0047 a0001c0001t0001g0200 a0001c0001t0001g0226 others(3): Show |
6 | 316 | 0.0190 | -13 | c.167 others(30): Show |
STOX2 | ENSG00000173320.12 | transcript | ENST00000308497.9 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
STPG1_chr1_24351999_24418782 | 24374242 | GTGTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG01358.hp2 HG01891.hp1 HG02615.hp1 others(9): Show |
a0002a0005 | a0002c0002a0002c0006a0005c0007others(1): Show | a0002c0002t0007a0002c0002t0029a0002c0006t0035others(2): Show | a0002c0002t0007g0029 a0002c0002t0007g0191 a0002c0002t0007g0192 others(8): Show |
12 | 356 | 0.0337 | -13 | c.463 others(28): Show |
STPG1 | ENSG00000001460.18 | transcript | ENST00000337248.9 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
STPG2_chr4_97553872_98148476 | 97616048 | ATACATAT others(6): Show |
A | intron_variant | MODIFIER | HG03453.hp1 HG03516.hp1 NA20905.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0002 | a0001c0001t0001g0130 a0001c0002t0001g0114 a0002c0003t0002g0083 |
3 | 248 | 0.0121 | -13 | c.132 others(34): Show |
STPG2 | ENSG00000163116.10 | transcript | ENST00000295268.4 | protein_coding | 10/10 | chr4 | TogoVar | |||||||
STPG2_chr4_97553872_98148476 | 97694812 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG02145.hp1 HG02895.hp2 others(1): Show |
a0004a0005 | a0004c0005a0005c0008 | a0004c0005t0002a0005c0008t0002 | a0004c0005t0002g0049 a0004c0005t0002g0050 a0004c0005t0002g0072 others(1): Show |
4 | 5 | 0.8000 | -13 | c.132 others(34): Show |
STPG2 | ENSG00000163116.10 | transcript | ENST00000295268.4 | protein_coding | 10/10 | chr4 | TogoVar | |||||||
STPG2_chr4_97553872_98148476 | 97813677 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 others(1): Show |
4 | 12 | 0.3333 | -13 | c.120 others(34): Show |
STPG2 | ENSG00000163116.10 | transcript | ENST00000295268.4 | protein_coding | 9/10 | chr4 | TogoVar | |||||||
STPG2_chr4_97553872_98148476 | 98036461 | AAATACTA others(6): Show |
A | intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0129 | 1 | 264 | 0.0038 | -13 | c.613 others(32): Show |
STPG2 | ENSG00000163116.10 | transcript | ENST00000295268.4 | protein_coding | 5/10 | chr4 | TogoVar | |||||||
STPG2_chr4_97553872_98148476 | 98130938 | AACAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01070.hp2 HG01109.hp1 others(17): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0089 a0003c0004t0001g0090 a0003c0004t0001g0091 others(17): Show |
20 | 264 | 0.0758 | -13 | c.223 others(30): Show |
STPG2 | ENSG00000163116.10 | transcript | ENST00000295268.4 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
STPG4_chr2_47081991_47160308 | 47127249 | ATTCTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 a0001c0001t0001g0116 |
2 | 332 | 0.0060 | -13 | c.519 others(30): Show |
STPG4 | ENSG00000239605.11 | transcript | ENST00000445927.7 | protein_coding | 5/6 | chr2 | TogoVar | |||||||
STPG4_chr2_47081991_47160308 | 47127252 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG02129.hp2 HG02155.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0297 others(3): Show |
6 | 47 | 0.1277 | -13 | c.519 others(30): Show |
STPG4 | ENSG00000239605.11 | transcript | ENST00000445927.7 | protein_coding | 5/6 | chr2 | TogoVar | |||||||
STRADA_chr17_63697832_63746799 | 63737248 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03041.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0200 a0001c0001t0002g0250 |
2 | 3 | 0.6667 | -13 | c.-45 others(30): Show |
STRADA | ENSG00000266173.7 | transcript | ENST00000336174.12 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
STRBP_chr9_123116617_123273586 | 123181800 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02976.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0041 | a0001c0001t0008g0139 a0001c0001t0041g0138 |
2 | 7 | 0.2857 | -13 | c.3+2 others(26): Show |
STRBP | ENSG00000165209.19 | transcript | ENST00000348403.10 | protein_coding | 3/18 | chr9 | TogoVar | |||||||
STRBP_chr9_123116617_123273586 | 123182217 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp2 others(96): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(96): Show |
99 | 133 | 0.7444 | -13 | c.3+1 others(26): Show |
STRBP | ENSG00000165209.19 | transcript | ENST00000348403.10 | protein_coding | 3/18 | chr9 | TogoVar | |||||||
STRBP_chr9_123116617_123273586 | 123200734 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG03130.hp2 |
a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0191 a0001c0002t0016g0192 |
2 | 20 | 0.1000 | -13 | c.-16 others(34): Show |
STRBP | ENSG00000165209.19 | transcript | ENST00000348403.10 | protein_coding | 2/18 | chr9 | TogoVar | |||||||
STRBP_chr9_123116617_123273586 | 123236495 | CGTACTTT others(6): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 224 | 0.0045 | -13 | c.-16 others(30): Show |
STRBP | ENSG00000165209.19 | transcript | ENST00000348403.10 | protein_coding | 2/18 | chr9 | TogoVar | |||||||
STRIT1_chr3_155285227_155298683 | 155298098 | AAAGAAAC others(6): Show |
A | upstream_gene_variant | MODIFIER | NA18949.hp1 NA18978.hp2 NA18982.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0005g0005 |
7 | 440 | 0.0159 | -13 | c.-44 others(24): Show |
STRIT1 | ENSG00000240045.2 | transcript | ENST00000489090.2 | protein_coding | 4416 | chr3 | TogoVar | |||||||
STRN3_chr14_30888804_31031379 | 30902196 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | NA18957.hp1 NA18999.hp2 NA19091.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0002c0002t0004a0003c0003t0002 | a0002c0002t0002g0123 a0002c0002t0004g0178 a0003c0003t0002g0045 |
3 | 362 | 0.0083 | -13 | c.213 others(30): Show |
STRN3 | ENSG00000196792.12 | transcript | ENST00000357479.10 | protein_coding | 16/17 | chr14 | TogoVar | |||||||
STRN_chr2_36832698_36971536 | 36948081 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0146 | 1 | 30 | 0.0333 | -13 | c.234 others(32): Show |
STRN | ENSG00000115808.13 | transcript | ENST00000263918.9 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
STS_chrX_7142712_7359641 | 7349315 | CCTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0096 | 1 | 84 | 0.0119 | -13 | c.136 others(30): Show |
STS | ENSG00000101846.9 | transcript | ENST00000674429.1 | protein_coding | 10/10 | chrX | TogoVar | |||||||
STS_chrX_7142712_7359641 | 7349316 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp2 HG02647.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0024 | a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0102 others(6): Show |
9 | 159 | 0.0566 | -13 | c.136 others(30): Show |
STS | ENSG00000101846.9 | transcript | ENST00000674429.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
STT3A_chr11_125587852_125628091 | 125610057 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(107): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0007others(12): Show | a0001c0002t0002g0001 a0001c0002t0002g0013 a0001c0002t0002g0016 others(65): Show |
110 | 134 | 0.8209 | -13 | c.111 others(30): Show |
STT3A | ENSG00000134910.14 | transcript | ENST00000392708.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
STT3B_chr3_31527925_31642616 | 31579477 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0217 | 1 | 43 | 0.0233 | -13 | c.424 others(28): Show |
STT3B | ENSG00000163527.10 | transcript | ENST00000295770.4 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STX17_chr9_99901654_99979534 | 99954498 | ATTTACAT others(6): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 1 | 292 | 0.0034 | -13 | c.415 others(30): Show |
STX17 | ENSG00000136874.11 | transcript | ENST00000259400.11 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
STX18_chr4_4413968_4547048 | 4447592 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01891.hp2 HG02257.hp1 others(17): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0008 | a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0018 others(17): Show |
20 | 28 | 0.7143 | -13 | c.498 others(30): Show |
STX18 | ENSG00000168818.10 | transcript | ENST00000306200.7 | protein_coding | 5/10 | chr4 | TogoVar | |||||||
STX18_chr4_4413968_4547048 | 4489391 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG03710.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 a0001c0001t0001g0129 |
2 | 27 | 0.0741 | -13 | c.169 others(32): Show |
STX18 | ENSG00000168818.10 | transcript | ENST00000306200.7 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
STX1A_chr7_73694210_73724669 | 73717008 | GACCCCCT others(6): Show |
G | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 398 | 0.0025 | -13 | c.30+ others(28): Show |
STX1A | ENSG00000106089.12 | transcript | ENST00000222812.8 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
STX1B_chr16_30984256_31015638 | 31001472 | GGCTGGGG others(6): Show |
G | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 280 | 0.0036 | -13 | c.105 others(26): Show |
STX1B | ENSG00000099365.11 | transcript | ENST00000215095.11 | protein_coding | 2/9 | chr16 | TogoVar | |||||||
STX1B_chr16_30984256_31015638 | 31013340 | CCTCTTCC others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 263 | 0.0038 | -13 | c.-29 others(24): Show |
STX1B | ENSG00000099365.11 | transcript | ENST00000215095.11 | protein_coding | 2703 | chr16 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130816381 | CATGACGG others(6): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0030 | a0002c0002t0030g0327 | 1 | 378 | 0.0026 | -13 | c.206 others(30): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
STX6_chr1_180967725_181027870 | 181018388 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0279 | 1 | 204 | 0.0049 | -13 | c.35+ others(28): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
STX6_chr1_180967725_181027870 | 181023113 | CTCTCTCT others(6): Show |
C | upstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0088 | 1 | 286 | 0.0035 | -13 | c.-45 others(22): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 244 | chr1 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9322814 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0016 | 1 | 59 | 0.0169 | -13 | c.643 others(32): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9329050 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 64 | 0.0156 | -13 | c.643 others(32): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9517875 | TAAGGCAT others(6): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0038 | 1 | 186 | 0.0054 | -13 | c.324 others(32): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
STXBP1_chr9_127607277_127697699 | 127611230 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 34 | 0.0294 | -13 | c.-11 others(24): Show |
STXBP1 | ENSG00000136854.25 | transcript | ENST00000373299.5 | protein_coding | 1046 | chr9 | TogoVar | |||||||
STXBP1_chr9_127607277_127697699 | 127659464 | AATTTTTG others(6): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0286 | 1 | 298 | 0.0034 | -13 | c.247 others(28): Show |
STXBP1 | ENSG00000136854.25 | transcript | ENST00000373299.5 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
STXBP3_chr1_108741674_108814523 | 108807257 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(111): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0075 others(101): Show |
114 | 258 | 0.4419 | -13 | c.153 others(30): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 55128925 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0096 | a0001c0001t0096g0063 | 1 | 241 | 0.0041 | -13 | c.149 others(34): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 120999816 | TTCTCCTT others(6): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00609.hp1 others(33): Show |
a0001a0005a0009 | a0001c0001a0005c0010a0009c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(33): Show |
36 | 288 | 0.1250 | -13 | c.288 others(32): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121059105 | GGTCTTAC others(6): Show |
G | intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0072 | 1 | 288 | 0.0035 | -13 | c.470 others(32): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147250969 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 253 | 0.0040 | -13 | c.432 others(30): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147372401 | CTTTTCCT others(6): Show |
C | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 348 | 0.0029 | -13 | c.308 others(32): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147372406 | CCTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01517.hp1 HG03195.hp2 NA21309.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0008 | a0002c0002t0002g0160 a0002c0002t0002g0165 a0002c0002t0008g0142 |
3 | 21 | 0.1429 | -13 | c.308 others(32): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | TogoVar |