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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STX19_chr3_94009365_94033597 | 94029301 | CATATAT | C | upstream_gene_variant | MODIFIER | HG01168.hp2 HG03579.hp1 NA18906.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0022 others(1): Show |
5 | 392 | 0.0128 | -6 | c.-95 others(15): Show |
STX19 | ENSG00000178750.3 | transcript | ENST00000315099.3 | protein_coding | 705 | chr3 | TogoVar | |||||||
STX1B_chr16_30984256_31015638 | 31013317 | TTCTTCC | T | upstream_gene_variant | MODIFIER | HG02145.hp2 HG03453.hp1 NA19030.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0022a0001c0002t0025others(1): Show | a0001c0001t0005g0174 a0001c0002t0022g0111 a0001c0002t0025g0030 others(1): Show |
4 | 282 | 0.0142 | -6 | c.-29 others(17): Show |
STX1B | ENSG00000099365.11 | transcript | ENST00000215095.11 | protein_coding | 2680 | chr16 | TogoVar | |||||||
STX1B_chr16_30984256_31015638 | 31013353 | TTTCTTC | T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG01192.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0028 a0001c0001t0002g0073 others(7): Show |
11 | 282 | 0.0390 | -6 | c.-29 others(17): Show |
STX1B | ENSG00000099365.11 | transcript | ENST00000215095.11 | protein_coding | 2716 | chr16 | TogoVar | |||||||
STX3_chr11_59750376_59810878 | 59752534 | CTTATTA | C | upstream_gene_variant | MODIFIER | HG02818.hp1 HG02976.hp1 NA18965.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0032a0004c0004t0011 | a0001c0001t0001g0081 a0001c0001t0032g0045 a0004c0004t0011g0150 others(1): Show |
4 | 218 | 0.0184 | -6 | c.-30 others(17): Show |
STX3 | ENSG00000166900.17 | transcript | ENST00000337979.9 | protein_coding | 2841 | chr11 | TogoVar | |||||||
STX3_chr11_59750376_59810878 | 59764883 | CTATTAT | C | intron_variant | MODIFIER | HG00642.hp1 HG01123.hp1 HG01891.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0012others(2): Show | a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 others(16): Show |
20 | 218 | 0.0917 | -6 | c.31- others(21): Show |
STX3 | ENSG00000166900.17 | transcript | ENST00000337979.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
STX3_chr11_59750376_59810878 | 59769263 | TGGAGGA | T | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00733.hp2 others(47): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0002g0005 a0001c0001t0002g0025 a0001c0001t0002g0153 others(43): Show |
50 | 218 | 0.2294 | -6 | c.31- others(21): Show |
STX3 | ENSG00000166900.17 | transcript | ENST00000337979.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
STX4_chr16_31028558_31045164 | 31044003 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02723.hp1 HG02895.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0022 |
10 | 262 | 0.0382 | -6 | c.*41 others(17): Show |
STX4 | ENSG00000103496.15 | transcript | ENST00000313843.8 | protein_coding | 3840 | chr16 | TogoVar | |||||||
STX5_chr11_62801860_62837051 | 62819220 | GAAAAAA | G | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG02486.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0164 others(2): Show |
6 | 380 | 0.0158 | -6 | c.908 others(23): Show |
STX5 | ENSG00000162236.13 | transcript | ENST00000294179.8 | protein_coding | 10/10 | chr11 | TogoVar | |||||||
STX6_chr1_180967725_181027870 | 181016220 | CATCTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00642.hp1 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(51): Show |
62 | 350 | 0.1771 | -6 | c.35+ others(21): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
STX6_chr1_180967725_181027870 | 181023104 | CCTCTCT | C | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG02922.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0014 a0001c0002t0002g0266 a0001c0002t0003g0315 |
3 | 350 | 0.0086 | -6 | c.-43 others(15): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 235 | chr1 | TogoVar | |||||||
STX7_chr6_132440867_132518116 | 132459568 | ACTATTT | A | 3_prime_UTR_variant | MODIFIER | HG02683.hp1 HG02735.hp1 HG03491.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0119 | a0001c0001t0033g0127 a0001c0001t0033g0128 a0001c0001t0033g0281 others(1): Show |
4 | 380 | 0.0105 | -6 | c.*11 others(17): Show |
STX7 | ENSG00000079950.14 | transcript | ENST00000367941.7 | protein_coding | 10/10 | 1184 | chr6 | TogoVar | ||||||
STX7_chr6_132440867_132518116 | 132462582 | GGTGTGT | G | intron_variant | MODIFIER | HG01346.hp1 HG02055.hp1 HG02451.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0045a0001c0001t0115others(1): Show | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 others(6): Show |
9 | 380 | 0.0237 | -6 | c.693 others(23): Show |
STX7 | ENSG00000079950.14 | transcript | ENST00000367941.7 | protein_coding | 9/9 | chr6 | TogoVar | |||||||
STX7_chr6_132440867_132518116 | 132470822 | ATATAAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00558.hp1 others(134): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0017 others(118): Show |
137 | 380 | 0.3605 | -6 | c.388 others(21): Show |
STX7 | ENSG00000079950.14 | transcript | ENST00000367941.7 | protein_coding | 5/9 | chr6 | TogoVar | |||||||
STX7_chr6_132440867_132518116 | 132517035 | CATATAT | C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00621.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0002 a0001c0001t0001g0076 a0001c0001t0001g0101 others(31): Show |
34 | 380 | 0.0895 | -6 | c.-40 others(17): Show |
STX7 | ENSG00000079950.14 | transcript | ENST00000367941.7 | protein_coding | 3920 | chr6 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9324126 | TCACACA | T | intron_variant | MODIFIER | HG00673.hp2 HG01074.hp2 HG01081.hp1 others(14): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(2): Show | a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0105 others(14): Show |
17 | 188 | 0.0904 | -6 | c.643 others(25): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9343018 | CAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00558.hp2 others(87): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0083 others(87): Show |
90 | 188 | 0.4787 | -6 | c.643 others(25): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9375063 | CAAAAAA | C | intron_variant | MODIFIER | HG02109.hp2 HG03130.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(1): Show | a0001c0002t0001g0007 a0001c0002t0001g0070 a0001c0002t0002g0002 others(2): Show |
5 | 188 | 0.0266 | -6 | c.643 others(23): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9429843 | AATATAT | A | intron_variant | MODIFIER | HG02451.hp1 HG02630.hp2 HG03225.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0002a0001c0004t0001 | a0001c0003t0001g0039 a0001c0003t0002g0005 a0001c0004t0001g0095 |
3 | 188 | 0.0160 | -6 | c.542 others(25): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9431427 | TTTGTTG | T | intron_variant | MODIFIER | HG01891.hp2 HG02965.hp2 HG03139.hp1 |
a0001 | a0001c0002a0001c0003a0001c0008 | a0001c0002t0001a0001c0003t0002a0001c0008t0001 | a0001c0002t0001g0029 a0001c0003t0002g0069 a0001c0008t0001g0183 |
3 | 188 | 0.0160 | -6 | c.542 others(25): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9441672 | CTTTTTT | C | intron_variant | MODIFIER | HG02965.hp2 HG02970.hp1 HG03139.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0001a0001c0002t0002a0001c0003t0002others(1): Show | a0001c0002t0001g0029 a0001c0002t0001g0070 a0001c0002t0002g0021 others(3): Show |
6 | 188 | 0.0319 | -6 | c.541 others(25): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9512051 | TAAAAGA | T | intron_variant | MODIFIER | HG02922.hp2 HG03041.hp2 HG06807.hp1 others(1): Show |
a0001 | a0001c0002a0001c0005a0001c0010 | a0001c0002t0001a0001c0005t0001a0001c0010t0001 | a0001c0002t0001g0070 a0001c0005t0001g0182 a0001c0005t0001g0184 others(1): Show |
4 | 188 | 0.0213 | -6 | c.324 others(23): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9516298 | CATATAT | C | intron_variant | MODIFIER | HG01081.hp2 HG02683.hp2 NA18948.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0168 others(4): Show |
7 | 188 | 0.0372 | -6 | c.324 others(25): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9518125 | ACTTTCT | A | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02572.hp1 others(19): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(5): Show | a0001c0002t0001g0007 a0001c0002t0001g0044 a0001c0002t0001g0070 others(19): Show |
22 | 188 | 0.1170 | -6 | c.324 others(25): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9562609 | AAAAAAT | A | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00558.hp2 others(105): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(9): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0073 others(105): Show |
108 | 188 | 0.5745 | -6 | c.118 others(23): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 2/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9562611 | AAAATAT | A | intron_variant | MODIFIER | HG01081.hp1 HG01346.hp1 HG02735.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0002 | a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0169 others(4): Show |
7 | 188 | 0.0372 | -6 | c.118 others(23): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 2/7 | chr17 | TogoVar | |||||||
STXBP1_chr9_127607277_127697699 | 127624053 | AATATAT | A | intron_variant | MODIFIER | HG01934.hp1 HG01993.hp1 HG02300.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 a0001c0001t0001g0157 a0001c0001t0001g0176 others(3): Show |
6 | 300 | 0.0200 | -6 | c.37+ others(23): Show |
STXBP1 | ENSG00000136854.25 | transcript | ENST00000373299.5 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
STXBP1_chr9_127607277_127697699 | 127650214 | CTGTGTG | C | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG00738.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0012 a0001c0001t0001g0053 a0001c0001t0001g0062 others(26): Show |
29 | 300 | 0.0967 | -6 | c.38- others(21): Show |
STXBP1 | ENSG00000136854.25 | transcript | ENST00000373299.5 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
STXBP1_chr9_127607277_127697699 | 127650464 | GGTGTGT | G | intron_variant | MODIFIER | HG03834.hp1 NA19070.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0201 a0001c0001t0001g0228 a0001c0001t0003g0129 |
3 | 300 | 0.0100 | -6 | c.38- others(21): Show |
STXBP1 | ENSG00000136854.25 | transcript | ENST00000373299.5 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
STXBP1_chr9_127607277_127697699 | 127653127 | TTTATTA | T | intron_variant | MODIFIER | HG01109.hp2 HG02723.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 |
3 | 300 | 0.0100 | -6 | c.88- others(19): Show |
STXBP1 | ENSG00000136854.25 | transcript | ENST00000373299.5 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
STXBP3_chr1_108741674_108814523 | 108771790 | CTATCTA | C | intron_variant | MODIFIER | HG00609.hp2 HG00733.hp1 HG01258.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0163 a0001c0001t0001g0164 others(18): Show |
24 | 334 | 0.0719 | -6 | c.439 others(21): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STXBP3_chr1_108741674_108814523 | 108771926 | CTATCTG | C | intron_variant | MODIFIER | HG00609.hp2 HG00733.hp1 HG01258.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0223 a0001c0002t0001g0226 a0001c0002t0001g0233 others(3): Show |
6 | 334 | 0.0180 | -6 | c.439 others(21): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 54967042 | GCACACA | G | upstream_gene_variant | MODIFIER | HG02723.hp2 HG03195.hp2 HG03486.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0009a0001c0001t0029a0001c0001t0071others(3): Show | a0001c0001t0009g0110 a0001c0001t0009g0111 a0001c0001t0009g0112 others(6): Show |
9 | 378 | 0.0238 | -6 | c.-19 others(17): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 1722 | chr17 | TogoVar | |||||||
STXBP4_chr17_54963765_55178632 | 54982594 | TTGTGTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00558.hp2 others(54): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0006 | a0001c0001t0003a0001c0001t0009a0001c0001t0019others(26): Show | a0001c0001t0003g0283 a0001c0001t0009g0017 a0001c0001t0009g0018 others(52): Show |
57 | 378 | 0.1508 | -6 | c.-15 others(25): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 55047185 | CGTGTGT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00621.hp2 others(68): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0035a0001c0001t0101a0001c0002t0001others(22): Show | a0001c0001t0035g0005 a0001c0001t0035g0167 a0001c0001t0101g0005 others(66): Show |
71 | 378 | 0.1878 | -6 | c.101 others(21): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 55052916 | CGTGTGT | C | intron_variant | MODIFIER | HG00673.hp2 HG01243.hp1 HG01433.hp1 others(16): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0034a0001c0001t0058a0001c0001t0098others(8): Show | a0001c0001t0034g0254 a0001c0001t0034g0256 a0001c0001t0058g0255 others(16): Show |
19 | 378 | 0.0503 | -6 | c.101 others(25): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 55090849 | GTGTGTC | G | intron_variant | MODIFIER | HG00423.hp1 HG01243.hp1 HG01433.hp1 others(16): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0009a0001c0001t0058others(8): Show | a0001c0001t0001g0155 a0001c0001t0001g0220 a0001c0001t0009g0017 others(16): Show |
19 | 378 | 0.0503 | -6 | c.148 others(25): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 55113217 | CCACACA | C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01358.hp1 others(32): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0019others(15): Show | a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0009g0017 others(31): Show |
35 | 378 | 0.0926 | -6 | c.149 others(27): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 55144005 | GCACACA | G | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG01070.hp1 others(32): Show |
a0001a0002a0009 | a0001c0001a0002c0003a0009c0015 | a0001c0001t0007a0001c0001t0073a0001c0001t0078others(14): Show | a0001c0001t0007g0179 a0001c0001t0007g0181 a0001c0001t0073g0259 others(30): Show |
35 | 378 | 0.0926 | -6 | c.154 others(25): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 120928639 | AGTGTGT | A | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG01070.hp2 others(37): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(5): Show | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(37): Show |
40 | 290 | 0.1379 | -6 | c.189 others(25): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121193966 | TATAATA | T | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00735.hp1 others(36): Show |
a0001a0004a0007 | a0001c0001a0001c0008a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0003g0188 others(36): Show |
39 | 290 | 0.1345 | -6 | c.878 others(25): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121241376 | TACACAC | T | intron_variant | MODIFIER | HG00408.hp1 HG01891.hp1 HG01934.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0058 others(11): Show |
14 | 290 | 0.0483 | -6 | c.140 others(23): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121248918 | GTTTGTT | G | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0028 a0001c0001t0008g0027 a0001c0001t0008g0029 others(3): Show |
6 | 290 | 0.0207 | -6 | 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 | 121283889 | GTGTGCT | G | intron_variant | MODIFIER | HG00735.hp1 HG01255.hp2 HG02559.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0005a0001c0001t0007a0004c0004t0005 | a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0279 others(6): Show |
9 | 290 | 0.0310 | -6 | c.211 others(25): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121297202 | ATGTGTG | A | intron_variant | MODIFIER | HG01109.hp1 HG01433.hp2 HG02109.hp2 others(14): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0002g0028 others(14): Show |
17 | 290 | 0.0586 | -6 | 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 | 121312446 | CTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(68): Show |
a0001a0003a0006 | a0001c0001a0001c0006a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0139 others(68): Show |
71 | 290 | 0.2448 | -6 | c.211 others(25): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121314584 | GGAGGGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0134 others(216): Show |
219 | 290 | 0.7552 | -6 | c.211 others(25): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121340860 | CAAAGTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0009g0005 others(1): Show |
4 | 290 | 0.0138 | -6 | c.217 others(27): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121392770 | CATATAT | C | intron_variant | MODIFIER | HG00609.hp2 HG01106.hp2 HG01433.hp2 others(24): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0114 a0001c0001t0001g0134 a0001c0001t0001g0146 others(24): Show |
27 | 290 | 0.0931 | -6 | c.258 others(27): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147213432 | ATATGTG | A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00673.hp2 others(56): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(8): Show | a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 others(56): Show |
59 | 350 | 0.1686 | -6 | c.248 others(23): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147372406 | CCTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG02572.hp2 HG02886.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0016a0001c0001t0034a0001c0003t0009others(1): Show | a0001c0001t0016g0046 a0001c0001t0034g0162 a0001c0003t0009g0187 others(3): Show |
6 | 350 | 0.0171 | -6 | c.308 others(25): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | TogoVar |