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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STX18_chr4_4413968_4547048 | 4511713 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG01943.hp1 HG02129.hp1 HG02922.hp1 others(15): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0100 others(15): Show |
18 | 246 | 0.0732 | -8 | c.168 others(27): Show |
STX18 | ENSG00000168818.10 | transcript | ENST00000306200.7 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
STX18_chr4_4413968_4547048 | 4511754 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG02055.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0069 others(3): Show |
6 | 246 | 0.0244 | -8 | c.168 others(27): Show |
STX18 | ENSG00000168818.10 | transcript | ENST00000306200.7 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
STX19_chr3_94009365_94033597 | 94029301 | CATATATA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02717.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0091 |
5 | 392 | 0.0128 | -8 | c.-95 others(17): Show |
STX19 | ENSG00000178750.3 | transcript | ENST00000315099.3 | protein_coding | 705 | chr3 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130818185 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG01192.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0010 a0001c0001t0001g0125 a0001c0001t0001g0152 others(12): Show |
16 | 380 | 0.0421 | -8 | c.205 others(25): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130843025 | GAAGAAAG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(60): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0016others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0016 others(60): Show |
63 | 380 | 0.1658 | -8 | c.-39 others(19): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3776 | chr12 | TogoVar | |||||||
STX3_chr11_59750376_59810878 | 59754013 | AAAACAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01175.hp2 HG02300.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0011 | a0001c0001t0001g0009 a0001c0001t0001g0047 a0001c0001t0001g0048 others(4): Show |
7 | 218 | 0.0321 | -8 | c.-15 others(19): Show |
STX3 | ENSG00000166900.17 | transcript | ENST00000337979.9 | protein_coding | 1362 | chr11 | TogoVar | |||||||
STX4_chr16_31028558_31045164 | 31037671 | TAATAAAT others(1): Show |
T | intron_variant | MODIFIER | HG01981.hp2 HG02258.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0031 a0001c0001t0002g0033 |
3 | 262 | 0.0115 | -8 | c.379 others(23): Show |
STX4 | ENSG00000103496.15 | transcript | ENST00000313843.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
STX5_chr11_62801860_62837051 | 62819220 | GAAAAAAA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(150): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(118): Show |
153 | 380 | 0.4026 | -8 | c.908 others(25): Show |
STX5 | ENSG00000162236.13 | transcript | ENST00000294179.8 | protein_coding | 10/10 | chr11 | TogoVar | |||||||
STX6_chr1_180967725_181027870 | 181023104 | CCTCTCTC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01496.hp1 HG01516.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0015 | a0001c0002t0002g0014 a0001c0002t0002g0020 a0001c0002t0002g0229 others(2): Show |
6 | 350 | 0.0171 | -8 | c.-43 others(17): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 235 | chr1 | TogoVar | |||||||
STX7_chr6_132440867_132518116 | 132508734 | ACTCCTGG others(1): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG01891.hp1 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(18): Show | a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0003g0033 others(50): Show |
55 | 380 | 0.1447 | -8 | c.-59 others(25): Show |
STX7 | ENSG00000079950.14 | transcript | ENST00000367941.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
STX7_chr6_132440867_132518116 | 132517035 | CATATATA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01070.hp2 HG01891.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0085 a0001c0001t0001g0212 others(7): Show |
11 | 380 | 0.0290 | -8 | c.-40 others(19): Show |
STX7 | ENSG00000079950.14 | transcript | ENST00000367941.7 | protein_coding | 3920 | chr6 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9255549 | AATAAATA others(1): Show |
A | intron_variant | MODIFIER | HG03453.hp2 HG04199.hp2 NA20905.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0002 | a0001c0001t0001g0158 a0001c0002t0001g0007 a0001c0003t0002g0030 |
3 | 188 | 0.0160 | -8 | c.644 others(25): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9260627 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02630.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0158 a0001c0002t0001g0009 a0001c0002t0001g0037 others(9): Show |
12 | 188 | 0.0638 | -8 | c.644 others(25): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9324124 | TCTCACAC others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02615.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0126 a0001c0002t0001g0035 a0001c0003t0001g0017 others(2): Show |
5 | 188 | 0.0266 | -8 | c.643 others(27): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9324126 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG02132.hp2 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 a0001c0001t0001g0112 |
2 | 188 | 0.0106 | -8 | c.643 others(27): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9329050 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02630.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0126 a0001c0002t0001g0009 a0001c0002t0002g0025 others(2): Show |
5 | 188 | 0.0266 | -8 | c.643 others(27): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9516298 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02630.hp1 NA19079.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0002 | a0001c0002t0001g0009 a0001c0004t0002g0081 |
2 | 188 | 0.0106 | -8 | c.324 others(27): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9529247 | TAGAGAGA others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00673.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0073 others(45): Show |
48 | 188 | 0.2553 | -8 | c.323 others(27): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9534335 | GAAACAAA others(1): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02647.hp1 others(6): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0064 others(6): Show |
9 | 188 | 0.0479 | -8 | c.323 others(27): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9556788 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG03453.hp1 NA18522.hp2 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0002 | a0001c0002t0001g0070 a0001c0008t0002g0187 |
2 | 188 | 0.0106 | -8 | c.212 others(23): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9563152 | CATTTATT others(1): Show |
C | intron_variant | MODIFIER | HG02074.hp2 HG02132.hp1 NA18986.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0109 a0001c0001t0001g0149 a0001c0001t0001g0150 others(1): Show |
4 | 188 | 0.0213 | -8 | c.117 others(25): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 2/7 | chr17 | TogoVar | |||||||
STXBP1_chr9_127607277_127697699 | 127611230 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG02630.hp2 HG02818.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0042 a0001c0001t0001g0081 a0001c0001t0001g0098 others(6): Show |
9 | 300 | 0.0300 | -8 | c.-11 others(19): Show |
STXBP1 | ENSG00000136854.25 | transcript | ENST00000373299.5 | protein_coding | 1046 | chr9 | TogoVar | |||||||
STXBP1_chr9_127607277_127697699 | 127624053 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG01928.hp1 HG03471.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0076 a0001c0001t0001g0145 others(4): Show |
7 | 300 | 0.0233 | -8 | c.37+ others(25): Show |
STXBP1 | ENSG00000136854.25 | transcript | ENST00000373299.5 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
STXBP1_chr9_127607277_127697699 | 127650214 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00639.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(45): Show |
51 | 300 | 0.1700 | -8 | c.38- others(23): Show |
STXBP1 | ENSG00000136854.25 | transcript | ENST00000373299.5 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
STXBP1_chr9_127607277_127697699 | 127653131 | TTATTATT others(1): Show |
T | intron_variant | MODIFIER | HG02135.hp2 HG02155.hp1 HG02165.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 others(7): Show |
10 | 300 | 0.0333 | -8 | c.88- others(21): Show |
STXBP1 | ENSG00000136854.25 | transcript | ENST00000373299.5 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
STXBP2_chr19_7632110_7652873 | 7640050 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp2 HG02647.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0017 a0001c0003t0001g0100 a0001c0003t0001g0101 others(1): Show |
9 | 428 | 0.0210 | -8 | c.246 others(23): Show |
STXBP2 | ENSG00000076944.18 | transcript | ENST00000221283.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
STXBP3_chr1_108741674_108814523 | 108771892 | CTATCTAT others(1): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0001g0297 |
3 | 334 | 0.0090 | -8 | c.439 others(23): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 54967031 | TGCGCGCG others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01928.hp1 HG01993.hp1 HG02273.hp2 |
a0002 | a0002c0003 | a0002c0003t0016 | a0002c0003t0016g0004 a0002c0003t0016g0147 |
3 | 378 | 0.0079 | -8 | c.-19 others(19): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 1733 | chr17 | TogoVar | |||||||
STXBP4_chr17_54963765_55178632 | 55047185 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02300.hp1 HG02559.hp1 HG02615.hp1 others(3): Show |
a0001a0004a0008 | a0001c0001a0001c0002a0004c0007others(1): Show | a0001c0001t0010a0001c0001t0114a0001c0002t0002others(2): Show | a0001c0001t0010g0314 a0001c0001t0114g0026 a0001c0002t0002g0036 others(3): Show |
6 | 378 | 0.0159 | -8 | c.101 others(23): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 55052916 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02630.hp1 HG02630.hp2 others(2): Show |
a0001a0003a0007 | a0001c0001a0003c0004a0007c0008 | a0001c0001t0031a0001c0001t0095a0001c0001t0132others(2): Show | a0001c0001t0031g0269 a0001c0001t0095g0329 a0001c0001t0132g0268 others(2): Show |
5 | 378 | 0.0132 | -8 | c.101 others(27): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 55090847 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(166): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(52): Show | a0001c0001t0001g0006 a0001c0001t0001g0080 a0001c0001t0001g0082 others(164): Show |
169 | 378 | 0.4471 | -8 | c.148 others(27): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 55111895 | GGTTTGTT others(1): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01169.hp1 HG02132.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0073a0001c0001t0096a0001c0002t0002others(6): Show | a0001c0001t0073g0259 a0001c0001t0096g0062 a0001c0002t0002g0002 others(15): Show |
19 | 378 | 0.0503 | -8 | c.149 others(29): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 55113217 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG01074.hp1 HG02027.hp1 others(35): Show |
a0001a0004a0009 | a0001c0001a0001c0002a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0129a0001c0002t0001others(13): Show | a0001c0001t0001g0219 a0001c0001t0129g0161 a0001c0002t0001g0106 others(34): Show |
38 | 378 | 0.1005 | -8 | c.149 others(29): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121241376 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(187): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 others(187): Show |
190 | 290 | 0.6552 | -8 | c.140 others(25): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121283887 | GTGTGTGC others(1): Show |
G | intron_variant | MODIFIER | HG02809.hp2 HG03209.hp2 HG03486.hp1 others(1): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0017a0001c0001t0031a0007c0007t0005 | a0001c0001t0017g0284 a0001c0001t0017g0285 a0001c0001t0031g0286 others(1): Show |
4 | 290 | 0.0138 | -8 | c.211 others(27): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121297202 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(93): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0141 others(93): Show |
96 | 290 | 0.3310 | -8 | c.211 others(29): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121392770 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG01074.hp2 others(44): Show |
a0001a0003a0006 | a0001c0001a0001c0006a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0139 others(44): Show |
47 | 290 | 0.1621 | -8 | c.258 others(29): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121416471 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(146): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0062 a0001c0001t0001g0114 a0001c0001t0001g0134 others(146): Show |
149 | 290 | 0.5138 | -8 | c.322 others(25): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147213430 | ATATATGT others(1): Show |
A | intron_variant | MODIFIER | HG03130.hp2 HG03516.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0018a0001c0001t0036a0001c0004t0007 | a0001c0001t0018g0336 a0001c0001t0018g0337 a0001c0001t0036g0169 others(1): Show |
4 | 350 | 0.0114 | -8 | c.248 others(25): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147213432 | ATATGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(25): Show |
a0001a0007 | a0001c0001a0001c0011a0007c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0264 others(25): Show |
28 | 350 | 0.0800 | -8 | c.248 others(25): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147310529 | GTGATTGA others(1): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG02717.hp2 HG02723.hp1 others(4): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0009a0002c0002t0002 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(4): Show |
7 | 350 | 0.0200 | -8 | c.107 others(25): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147314182 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0023a0001c0001t0024others(1): Show | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | 350 | 0.0286 | -8 | c.129 others(23): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147380173 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00558.hp1 others(91): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0002a0002c0002t0002others(7): Show | a0001c0001t0001g0293 a0001c0003t0002g0295 a0002c0002t0002g0025 others(91): Show |
94 | 350 | 0.2686 | -8 | c.319 others(27): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147392017 | AGTGTGTG others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG02647.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0007a0001c0004t0021 | a0001c0004t0007g0015 a0001c0004t0007g0016 a0001c0004t0007g0017 others(3): Show |
6 | 350 | 0.0171 | -8 | c.*72 others(19): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1545 | chr6 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24839157 | CTGTTCTG others(1): Show |
C | intron_variant | MODIFIER | HG03139.hp1 NA19030.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0063a0001c0001t0064a0001c0001t0065 | a0001c0001t0063g0144 a0001c0001t0064g0145 a0001c0001t0065g0143 |
3 | 242 | 0.0124 | -8 | c.451 others(27): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 4/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24918452 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01074.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0031a0001c0001t0035others(5): Show | a0001c0001t0019g0094 a0001c0001t0019g0121 a0001c0001t0031g0162 others(7): Show |
10 | 242 | 0.0413 | -8 | c.154 others(27): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24962287 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00673.hp1 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0125 a0001c0001t0002g0022 a0001c0001t0003g0103 others(61): Show |
64 | 242 | 0.2645 | -8 | c.154 others(27): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24973375 | CTTCCTTT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG01070.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(19): Show | a0001c0001t0001g0053 a0001c0001t0002g0032 a0001c0001t0002g0054 others(25): Show |
28 | 242 | 0.1157 | -8 | c.154 others(25): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76026192 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG01261.hp1 others(51): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0168 a0001c0001t0001g0342 a0001c0001t0003g0004 others(51): Show |
54 | 356 | 0.1517 | -8 | c.165 others(25): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 3/8 | chr7 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76046274 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG01433.hp1 HG01496.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001 | a0001c0002t0002g0106 a0001c0003t0001g0172 a0001c0003t0001g0296 others(1): Show |
4 | 356 | 0.0112 | -8 | c.-5+ others(23): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 1/8 | chr7 | TogoVar |