regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STX2_chr12_130784600_130844250 | 130818185 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0041 | 1 | 380 | 0.0026 | 19 | c.205 others(36): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
STX2_chr12_130784600_130844250 | 130818185 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03239.hp1 HG03471.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0040a0003c0003t0003g0052 | 2 | 380 | 0.0053 | 19 | c.205 others(36): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
STX2_chr12_130784600_130844250 | 130818185 | A | AAAAAAAT others(12): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0288 | 1 | 380 | 0.0026 | 19 | c.205 others(36): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
STX3_chr11_59750376_59810878 | 59754941 | G | GCGCGGGA others(12): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 HG02976.hp1 |
a0004 | a0004c0004 | a0004c0004t0011 | a0004c0004t0011g0150a0004c0004t0011g0151 | 2 | 218 | 0.0092 | 19 | c.-66 others(28): Show |
STX3 | ENSG00000166900.17 | transcript | ENST00000337979.9 | protein_coding | 434 | chr11 | TogoVar | ||||||
STX3_chr11_59750376_59810878 | 59772974 | A | AAACACAC others(12): Show |
intron_variant | MODIFIER | NA18960.hp1 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0166a0001c0001t0010g0171 | 2 | 218 | 0.0092 | 19 | c.31- others(32): Show |
STX3 | ENSG00000166900.17 | transcript | ENST00000337979.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
STX6_chr1_180967725_181027870 | 181023049 | T | TATATATA others(12): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0034 | 1 | 350 | 0.0029 | 19 | c.-37 others(28): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 180 | chr1 | TogoVar | ||||||
STX7_chr6_132440867_132518116 | 132506054 | A | AAACTGGA others(12): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 |
a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0019 | 2 | 380 | 0.0053 | 19 | c.-58 others(36): Show |
STX7 | ENSG00000079950.14 | transcript | ENST00000367941.7 | protein_coding | 1/9 | chr6 | TogoVar | ||||||
STX8_chr17_9245471_9580820 | 9364987 | G | GGATGAGG others(12): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02109.hp2 HG02145.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0123a0001c0001t0001g0126a0001c0002t0001g0007others(15): Show | 18 | 188 | 0.0957 | 19 | c.643 others(38): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | ||||||
STX8_chr17_9245471_9580820 | 9429998 | A | ATATATTA others(12): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 188 | 0.0053 | 19 | c.542 others(38): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | ||||||
STX8_chr17_9245471_9580820 | 9480895 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 188 | 0.0053 | 19 | c.541 others(38): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | ||||||
STX8_chr17_9245471_9580820 | 9506422 | C | CCCCCCCC others(12): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0127 | 1 | 188 | 0.0053 | 19 | c.324 others(36): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | ||||||
STX8_chr17_9245471_9580820 | 9535424 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03516.hp1 HG03579.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0001 | a0001c0003t0001g0067a0001c0005t0001g0185a0001c0005t0001g0186 | 3 | 188 | 0.0160 | 19 | c.323 others(36): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | ||||||
STX8_chr17_9245471_9580820 | 9546590 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03453.hp1 HG03516.hp2 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0002a0001c0002t0003a0001c0008t0002 | a0001c0002t0002g0062a0001c0002t0003g0188a0001c0008t0002g0187 | 3 | 188 | 0.0160 | 19 | c.213 others(36): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 3/7 | chr17 | TogoVar | ||||||
STX8_chr17_9245471_9580820 | 9559760 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0005 | 1 | 188 | 0.0053 | 19 | c.118 others(36): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 2/7 | chr17 | TogoVar | ||||||
STXBP3_chr1_108741674_108814523 | 108771505 | G | GATATATA others(12): Show |
intron_variant | MODIFIER | HG02074.hp2 HG03195.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195a0001c0001t0001g0196a0001c0001t0001g0197others(1): Show | 4 | 334 | 0.0120 | 19 | c.439 others(36): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
STXBP3_chr1_108741674_108814523 | 108771558 | G | GATATATA others(12): Show |
intron_variant | MODIFIER | HG00544.hp2 NA19005.hp2 NA19057.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0206a0001c0002t0001g0273a0001c0002t0001g0274others(2): Show | 5 | 334 | 0.0150 | 19 | c.439 others(36): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
STXBP3_chr1_108741674_108814523 | 108771558 | G | GATATATA others(12): Show |
intron_variant | MODIFIER | HG03471.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310a0001c0001t0001g0311 | 2 | 334 | 0.0060 | 19 | c.439 others(36): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
STXBP3_chr1_108741674_108814523 | 108771558 | G | GATATCTA others(12): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03453.hp2 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0157a0001c0004t0003g0158 | 2 | 334 | 0.0060 | 19 | c.439 others(36): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
STXBP3_chr1_108741674_108814523 | 108771618 | A | AAATATAT others(12): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02074.hp1 NA18747.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016a0001c0001t0002g0052a0001c0001t0002g0053others(7): Show | 10 | 334 | 0.0299 | 19 | c.439 others(36): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | chr1 | TogoVar | ||||||
STXBP3_chr1_108741674_108814523 | 108771620 | C | CTATATAT others(12): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01981.hp1 HG02004.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0306a0001c0001t0001g0307a0001c0001t0001g0308others(4): Show | 7 | 334 | 0.0210 | 19 | c.439 others(36): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
STXBP5L_chr3_120903205_121429761 | 120984632 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01123.hp2 HG02004.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0003g0252a0001c0001t0003g0253a0001c0001t0003g0259others(4): Show | 7 | 290 | 0.0241 | 19 | c.287 others(38): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
STXBP5L_chr3_120903205_121429761 | 121207300 | T | TTCTACAT others(12): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00735.hp1 others(36): Show |
a0001a0004a0009 | a0001c0001a0001c0008a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0281a0001c0001t0001g0282a0001c0001t0003g0251others(36): Show | 39 | 290 | 0.1345 | 19 | c.956 others(36): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 10/26 | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121312446 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0042a0001c0001t0001g0063a0001c0001t0003g0255 | 3 | 290 | 0.0103 | 19 | c.211 others(38): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
STXBP5_chr6_147199417_147395473 | 147338731 | A | AATATATA others(12): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
a0001a0006 | a0001c0001a0006c0013 | a0001c0001t0006a0001c0001t0013a0001c0001t0026others(1): Show | a0001c0001t0006g0095a0001c0001t0006g0108a0001c0001t0006g0115others(9): Show | 12 | 350 | 0.0343 | 19 | c.214 others(36): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
STXBP5_chr6_147199417_147395473 | 147338731 | A | AATATATA others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(43): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0029others(322): Show | 325 | 350 | 0.9286 | 19 | c.214 others(36): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
STXBP5_chr6_147199417_147395473 | 147338731 | A | AATATATA others(12): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02723.hp2 HG02970.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0024others(1): Show | a0001c0001t0003g0053a0001c0001t0005g0038a0001c0001t0005g0040others(5): Show | 8 | 350 | 0.0229 | 19 | c.214 others(36): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
STXBP5_chr6_147199417_147395473 | 147338731 | A | AATATATA others(12): Show |
intron_variant | MODIFIER | NA18946.hp2 NA18982.hp2 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214a0001c0001t0001g0231a0001c0001t0001g0238 | 3 | 350 | 0.0086 | 19 | c.214 others(36): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
STXBP6_chr14_24804454_25055147 | 24882378 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0158 | 1 | 242 | 0.0041 | 19 | c.155 others(38): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
STXBP6_chr14_24804454_25055147 | 24976852 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0183 | 1 | 242 | 0.0041 | 19 | c.-32 others(36): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 1/5 | chr14 | TogoVar | ||||||
STXBP6_chr14_24804454_25055147 | 25002359 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02451.hp1 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0029a0001c0001t0034others(3): Show | a0001c0001t0007g0139a0001c0001t0007g0150a0001c0001t0029g0141others(5): Show | 8 | 242 | 0.0331 | 19 | c.-32 others(38): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 1/5 | chr14 | TogoVar | ||||||
STXBP6_chr14_24804454_25055147 | 25002359 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03927.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0070 | a0001c0001t0024g0237a0001c0001t0070g0138 | 2 | 242 | 0.0083 | 19 | c.-32 others(38): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 1/5 | chr14 | TogoVar | ||||||
STYXL1_chr7_75991342_76053000 | 76005872 | A | AGAGGAGG others(12): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02523.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236a0001c0001t0001g0239 | 2 | 356 | 0.0056 | 19 | c.454 others(34): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 5/8 | chr7 | TogoVar | ||||||
STYXL1_chr7_75991342_76053000 | 76017866 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01109.hp2 others(34): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(5): Show | a0001c0001t0001g0339a0001c0001t0001g0340a0001c0001t0001g0342others(34): Show | 37 | 356 | 0.1039 | 19 | c.308 others(36): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 4/8 | chr7 | TogoVar | ||||||
SUCLG2_chr3_67369719_67659612 | 67547711 | C | CAATTTTC others(12): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01167.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0081a0001c0001t0001g0085a0001c0001t0001g0087others(12): Show | 15 | 280 | 0.0536 | 19 | c.227 others(38): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 2/10 | chr3 | TogoVar | ||||||
SUCO_chr1_172528150_172616833 | 172603881 | G | GTACATTA others(12): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 2 | 340 | 0.0059 | 19 | c.326 others(38): Show |
SUCO | ENSG00000094975.15 | transcript | ENST00000263688.4 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SUGP2_chr19_18985893_19038517 | 19033006 | A | AACTTCAG others(12): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0021 | 1 | 302 | 0.0033 | 19 | c.-12 others(34): Show |
SUGP2 | ENSG00000064607.17 | transcript | ENST00000452918.7 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
SUGT1_chr13_52647836_52705909 | 52659814 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0073 | 1 | 310 | 0.0032 | 19 | c.328 others(34): Show |
SUGT1 | ENSG00000165416.15 | transcript | ENST00000310528.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SULF2_chr20_47652406_47790481 | 47656887 | G | GTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 HG02818.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0195a0001c0001t0001g0199a0001c0001t0011g0003 | 3 | 364 | 0.0082 | 19 | c.*14 others(30): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 518 | chr20 | TogoVar | ||||||
SULF2_chr20_47652406_47790481 | 47731194 | T | TTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0016 | a0003c0016t0001 | a0003c0016t0001g0178 | 1 | 364 | 0.0028 | 19 | c.415 others(36): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 3/20 | chr20 | TogoVar | ||||||
SULF2_chr20_47652406_47790481 | 47754487 | T | TACCTCCT others(12): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00597.hp1 others(73): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0028a0001c0001t0001g0057a0001c0001t0001g0101others(73): Show | 76 | 364 | 0.2088 | 19 | c.175 others(36): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | ||||||
SULF2_chr20_47652406_47790481 | 47754487 | T | TGCCTCCT others(12): Show |
intron_variant | MODIFIER | HG03927.hp2 NA18946.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0252a0001c0002t0003g0343 | 2 | 364 | 0.0055 | 19 | c.175 others(36): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | ||||||
SULT2B1_chr19_48547172_48604423 | 48576359 | C | CTTTTCTT others(12): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03130.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0005t0001a0001c0006t0001 | a0001c0001t0001g0042a0001c0001t0001g0073a0001c0001t0001g0074others(2): Show | 5 | 376 | 0.0133 | 19 | c.214 others(34): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SULT2B1_chr19_48547172_48604423 | 48576359 | C | CTTTTCTT others(12): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 376 | 0.0027 | 19 | c.214 others(34): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SULT2B1_chr19_48547172_48604423 | 48596436 | A | ACTGTGAC others(12): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02055.hp1 others(16): Show |
a0001a0007 | a0001c0001a0001c0006a0007c0017 | a0001c0001t0001a0001c0006t0001a0007c0017t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0054others(16): Show | 19 | 376 | 0.0505 | 19 | c.646 others(34): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SULT2B1_chr19_48547172_48604423 | 48602704 | A | AAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 376 | 0.0027 | 19 | c.*32 others(30): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 3282 | chr19 | TogoVar | ||||||
SUMO2_chr17_75160586_75187959 | 75162278 | C | CTATATAT others(12): Show |
downstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 398 | 0.0025 | 19 | c.*60 others(30): Show |
SUMO2 | ENSG00000188612.12 | transcript | ENST00000420826.7 | protein_coding | 3307 | chr17 | TogoVar | ||||||
SUN1_chr7_827476_879934 | 876841 | C | CCGCCGCC others(12): Show |
downstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0263 | 1 | 418 | 0.0024 | 19 | c.*35 others(30): Show |
SUN1 | ENSG00000164828.18 | transcript | ENST00000401592.6 | protein_coding | 1908 | chr7 | TogoVar | ||||||
SUN5_chr20_32978775_33009433 | 33001519 | C | CTTCTTTC others(12): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG02132.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237a0001c0001t0001g0238a0001c0001t0001g0239 | 3 | 382 | 0.0079 | 19 | c.212 others(34): Show |
SUN5 | ENSG00000167098.12 | transcript | ENST00000356173.8 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
SUOX_chr12_55992276_56010525 | 55996003 | A | ATATATAT others(12): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 | 1 | 422 | 0.0024 | 19 | c.-14 others(30): Show |
SUOX | ENSG00000139531.13 | transcript | ENST00000266971.8 | protein_coding | 1272 | chr12 | TogoVar | ||||||
SUOX_chr12_55992276_56010525 | 55996003 | A | ATATATAT others(12): Show |
upstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 422 | 0.0024 | 19 | c.-14 others(30): Show |
SUOX | ENSG00000139531.13 | transcript | ENST00000266971.8 | protein_coding | 1272 | chr12 | TogoVar |