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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STAU2_chr8_73415369_73751840 | 73479709 | A | ACAATATA others(18): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02622.hp1 HG02735.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0019a0001c0001t0001g0027a0001c0001t0001g0036others(6): Show | 9 | 240 | 0.0375 | 25 | c.153 others(46): Show |
STAU2 | ENSG00000040341.18 | transcript | ENST00000524300.6 | protein_coding | 13/14 | chr8 | TogoVar | ||||||
STAU2_chr8_73415369_73751840 | 73654637 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 240 | 0.0042 | 25 | c.410 others(44): Show |
STAU2 | ENSG00000040341.18 | transcript | ENST00000524300.6 | protein_coding | 6/14 | chr8 | TogoVar | ||||||
STAU2_chr8_73415369_73751840 | 73687312 | T | TTTATATT others(18): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01891.hp2 HG02280.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0003t0001a0003c0004t0002 | a0001c0001t0001g0003a0001c0001t0001g0074a0001c0001t0001g0075others(2): Show | 5 | 240 | 0.0208 | 25 | c.274 others(42): Show |
STAU2 | ENSG00000040341.18 | transcript | ENST00000524300.6 | protein_coding | 5/14 | chr8 | TogoVar | ||||||
STAU2_chr8_73415369_73751840 | 73687337 | T | TTTATATT others(18): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 240 | 0.0042 | 25 | c.274 others(42): Show |
STAU2 | ENSG00000040341.18 | transcript | ENST00000524300.6 | protein_coding | 5/14 | chr8 | TogoVar | ||||||
STEAP1B_chr7_22414444_22505188 | 22454866 | T | TATAAATA others(18): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 384 | 0.0026 | 25 | c.763 others(44): Show |
STEAP1B | ENSG00000105889.16 | transcript | ENST00000678116.1 | protein_coding | 4/4 | chr7 | TogoVar | ||||||
STEEP1_chrX_119533149_119570409 | 119536967 | T | TAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 HG02486.hp1 NA18950.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0018others(1): Show | 5 | 293 | 0.0171 | 25 | c.*27 others(36): Show |
STEEP1 | ENSG00000018610.15 | transcript | ENST00000644802.2 | protein_coding | 1181 | chrX | TogoVar | ||||||
STEEP1_chrX_119533149_119570409 | 119542055 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0054 | 1 | 293 | 0.0034 | 25 | c.513 others(40): Show |
STEEP1 | ENSG00000018610.15 | transcript | ENST00000644802.2 | protein_coding | 5/6 | chrX | TogoVar | ||||||
STK10_chr5_172037079_172193224 | 172106401 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0074 | 1 | 232 | 0.0043 | 25 | c.788 others(40): Show |
STK10 | ENSG00000072786.13 | transcript | ENST00000176763.10 | protein_coding | 6/18 | chr5 | TogoVar | ||||||
STK10_chr5_172037079_172193224 | 172114473 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0004 | a0001c0004t0038 | a0001c0004t0038g0216 | 1 | 232 | 0.0043 | 25 | c.520 others(42): Show |
STK10 | ENSG00000072786.13 | transcript | ENST00000176763.10 | protein_coding | 4/18 | chr5 | TogoVar | ||||||
STK10_chr5_172037079_172193224 | 172171730 | T | TGAATAGA others(18): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01081.hp1 HG01109.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0015others(9): Show | a0001c0001t0001g0031a0001c0001t0001g0119a0001c0001t0010g0009others(12): Show | 15 | 232 | 0.0647 | 25 | c.157 others(44): Show |
STK10 | ENSG00000072786.13 | transcript | ENST00000176763.10 | protein_coding | 1/18 | chr5 | TogoVar | ||||||
STK11IP_chr2_219592857_219621451 | 219608362 | T | TGGTGGAA others(18): Show |
frameshift_variant | HIGH | NA19006.hp2 | a0020 | a0020c0026 | a0020c0026t0001 | a0020c0026t0001g0123 | 1 | 342 | 0.0029 | 25 | c.153 others(34): Show |
p.Glu others(5): Show |
STK11IP | ENSG00000144589.22 | transcript | ENST00000456909.6 | protein_coding | 14/25 | 1656/3618 | 1563/3267 | 521/1088 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
STK24_chr13_98440185_98582107 | 98494412 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01517.hp2 HG02004.hp2 HG03669.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0044 | a0001c0001t0002g0039a0001c0001t0002g0044a0001c0001t0002g0051others(3): Show | 6 | 322 | 0.0186 | 25 | c.274 others(44): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 2/10 | chr13 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98513617 | A | AGAGTTTC others(18): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0219 | 1 | 322 | 0.0031 | 25 | c.273 others(42): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 2/10 | chr13 | TogoVar | ||||||
STK31_chr7_23705219_23837513 | 23730878 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02922.hp2 HG02976.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0099a0003c0003t0001g0100a0003c0003t0001g0111 | 3 | 404 | 0.0074 | 25 | c.483 others(42): Show |
STK31 | ENSG00000196335.13 | transcript | ENST00000355870.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
STK31_chr7_23705219_23837513 | 23730878 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0087 | 1 | 404 | 0.0025 | 25 | c.483 others(42): Show |
STK31 | ENSG00000196335.13 | transcript | ENST00000355870.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
STK32B_chr4_5046480_5505989 | 5099454 | G | GCGTGCGC others(18): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 170 | 0.0059 | 25 | c.53- others(42): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
STK32B_chr4_5046480_5505989 | 5204458 | T | TTTTTGTT others(18): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01243.hp2 HG02145.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(1): Show | a0001c0001t0001g0058a0001c0001t0001g0136a0001c0001t0005g0164others(2): Show | 5 | 170 | 0.0294 | 25 | c.260 others(44): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
STK32B_chr4_5046480_5505989 | 5311915 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0079 | 1 | 170 | 0.0059 | 25 | c.261 others(44): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
STK33_chr11_8386870_8599228 | 8553174 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01884.hp2 HG01891.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0038a0001c0001t0003g0011a0001c0001t0003g0023others(6): Show | 9 | 334 | 0.0270 | 25 | c.-46 others(46): Show |
STK33 | ENSG00000130413.16 | transcript | ENST00000687296.1 | protein_coding | 1/15 | chr11 | TogoVar | ||||||
STK33_chr11_8386870_8599228 | 8553176 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG03831.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042a0001c0001t0002g0105 | 2 | 334 | 0.0060 | 25 | c.-46 others(46): Show |
STK33 | ENSG00000130413.16 | transcript | ENST00000687296.1 | protein_coding | 1/15 | chr11 | TogoVar | ||||||
STK33_chr11_8386870_8599228 | 8553203 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01515.hp2 HG01952.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009a0001c0001t0002g0039a0001c0001t0002g0041others(5): Show | 8 | 334 | 0.0240 | 25 | c.-46 others(46): Show |
STK33 | ENSG00000130413.16 | transcript | ENST00000687296.1 | protein_coding | 1/15 | chr11 | TogoVar | ||||||
STK38L_chr12_27239286_27330959 | 27306714 | A | ACACACAC others(18): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 374 | 0.0027 | 25 | c.187 others(42): Show |
STK38L | ENSG00000211455.8 | transcript | ENST00000389032.8 | protein_coding | 3/13 | chr12 | TogoVar | ||||||
STK39_chr2_167949022_168252595 | 168200684 | A | AAAAATAA others(18): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0004 | a0001c0004t0001g0223a0001c0004t0001g0224a0001c0004t0004g0218others(1): Show | 4 | 270 | 0.0148 | 25 | c.209 others(44): Show |
STK39 | ENSG00000198648.12 | transcript | ENST00000355999.5 | protein_coding | 1/17 | chr2 | TogoVar | ||||||
STK39_chr2_167949022_168252595 | 168242560 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 270 | 0.0037 | 25 | c.208 others(42): Show |
STK39 | ENSG00000198648.12 | transcript | ENST00000355999.5 | protein_coding | 1/17 | chr2 | TogoVar | ||||||
STK39_chr2_167949022_168252595 | 168242560 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02273.hp1 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0005g0118 | 3 | 270 | 0.0111 | 25 | c.208 others(42): Show |
STK39 | ENSG00000198648.12 | transcript | ENST00000355999.5 | protein_coding | 1/17 | chr2 | TogoVar | ||||||
STK4_chr20_44961512_45085021 | 45011730 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03239.hp2 HG03540.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0003a0002c0002t0007 | a0001c0001t0005g0041a0002c0002t0003g0182a0002c0002t0007g0136others(1): Show | 4 | 328 | 0.0122 | 25 | c.114 others(46): Show |
STK4 | ENSG00000101109.13 | transcript | ENST00000372806.8 | protein_coding | 9/10 | chr20 | TogoVar | ||||||
STK4_chr20_44961512_45085021 | 45062989 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 328 | 0.0031 | 25 | c.130 others(46): Show |
STK4 | ENSG00000101109.13 | transcript | ENST00000372806.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
STOML3_chr13_38960925_38995831 | 38977750 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 396 | 0.0025 | 25 | c.53- others(38): Show |
STOML3 | ENSG00000133115.12 | transcript | ENST00000379631.9 | protein_coding | 1/6 | chr13 | TogoVar | ||||||
STOML3_chr13_38960925_38995831 | 38988409 | T | TTTTATAT others(18): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01981.hp2 NA18984.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051a0001c0001t0001g0053a0001c0001t0001g0054others(1): Show | 4 | 396 | 0.0101 | 25 | c.52+ others(40): Show |
STOML3 | ENSG00000133115.12 | transcript | ENST00000379631.9 | protein_coding | 1/6 | chr13 | TogoVar | ||||||
STOML3_chr13_38960925_38995831 | 38988444 | T | TTTTATAT others(18): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01496.hp2 HG01981.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012a0001c0001t0001g0052a0001c0001t0001g0053others(4): Show | 8 | 396 | 0.0202 | 25 | c.52+ others(40): Show |
STOML3 | ENSG00000133115.12 | transcript | ENST00000379631.9 | protein_coding | 1/6 | chr13 | TogoVar | ||||||
STPG2_chr4_97553872_98148476 | 98103644 | A | AAAAATAA others(18): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02896.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0094a0003c0004t0001g0095 | 2 | 266 | 0.0075 | 25 | c.612 others(42): Show |
STPG2 | ENSG00000163116.10 | transcript | ENST00000295268.4 | protein_coding | 5/10 | chr4 | TogoVar | ||||||
STRIP2_chr7_129429432_129493399 | 129450918 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0136 | 1 | 346 | 0.0029 | 25 | c.275 others(40): Show |
STRIP2 | ENSG00000128578.10 | transcript | ENST00000249344.7 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
STRIT1_chr3_155285227_155298683 | 155298036 | A | AAAAAGAA others(18): Show |
upstream_gene_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 444 | 0.0023 | 25 | c.-44 others(36): Show |
STRIT1 | ENSG00000240045.2 | transcript | ENST00000489090.2 | protein_coding | 4354 | chr3 | TogoVar | ||||||
STRN4_chr19_46714511_46751450 | 46717184 | A | AGGGGCCG others(18): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG01074.hp2 HG02083.hp1 others(13): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0006 | a0002c0003t0001g0023a0002c0003t0001g0024a0002c0003t0001g0199others(9): Show | 16 | 402 | 0.0398 | 25 | c.*32 others(36): Show |
STRN4 | ENSG00000090372.15 | transcript | ENST00000263280.11 | protein_coding | 2326 | chr19 | TogoVar | ||||||
STT3B_chr3_31527925_31642616 | 31572015 | C | CATATTAA others(18): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00558.hp1 others(76): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0008a0003c0008t0001 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(72): Show | 79 | 342 | 0.2310 | 25 | c.315 others(42): Show |
STT3B | ENSG00000163527.10 | transcript | ENST00000295770.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
STX18_chr4_4413968_4547048 | 4529925 | A | AGAAAGTC others(18): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0009 | 1 | 246 | 0.0041 | 25 | c.168 others(44): Show |
STX18 | ENSG00000168818.10 | transcript | ENST00000306200.7 | protein_coding | 1/10 | chr4 | TogoVar | ||||||
STX2_chr12_130784600_130844250 | 130818185 | A | AAAAAAAT others(18): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18965.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0100a0002c0002t0002g0101 | 2 | 380 | 0.0053 | 25 | c.205 others(42): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
STX2_chr12_130784600_130844250 | 130844128 | T | TATATATG others(18): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213a0001c0001t0001g0230 | 2 | 380 | 0.0053 | 25 | c.-50 others(36): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 4879 | chr12 | TogoVar | ||||||
STX6_chr1_180967725_181027870 | 181023050 | C | CTCTCTCT others(18): Show |
upstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 350 | 0.0029 | 25 | c.-37 others(34): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 181 | chr1 | TogoVar | ||||||
STX7_chr6_132440867_132518116 | 132490965 | G | GCAGCACA others(18): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0334 | 1 | 380 | 0.0026 | 25 | c.85+ others(42): Show |
STX7 | ENSG00000079950.14 | transcript | ENST00000367941.7 | protein_coding | 2/9 | chr6 | TogoVar | ||||||
STX8_chr17_9245471_9580820 | 9430183 | A | AAATATAA others(18): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0071 | 1 | 188 | 0.0053 | 25 | c.542 others(44): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | ||||||
STX8_chr17_9245471_9580820 | 9471031 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01515.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0014a0001c0002t0002g0038 | 2 | 188 | 0.0106 | 25 | c.541 others(44): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | ||||||
STX8_chr17_9245471_9580820 | 9506422 | C | CCCCCCCC others(18): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0036 | 1 | 188 | 0.0053 | 25 | c.324 others(42): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | ||||||
STX8_chr17_9245471_9580820 | 9535424 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01081.hp2 HG04199.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0001 | a0001c0002t0002g0021a0001c0004t0001g0084 | 2 | 188 | 0.0106 | 25 | c.323 others(42): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | ||||||
STX8_chr17_9245471_9580820 | 9546590 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0066 | 1 | 188 | 0.0053 | 25 | c.213 others(42): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 3/7 | chr17 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 120984632 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA19056.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0257a0001c0001t0003g0261 | 2 | 290 | 0.0069 | 25 | c.287 others(44): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
STXBP5_chr6_147199417_147395473 | 147213476 | G | GTGTGTGT others(18): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0184 | 1 | 350 | 0.0029 | 25 | c.248 others(42): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
STYXL1_chr7_75991342_76053000 | 76017866 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02922.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178a0001c0001t0001g0210a0001c0001t0001g0338 | 3 | 356 | 0.0084 | 25 | c.308 others(42): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 4/8 | chr7 | TogoVar | ||||||
STYXL1_chr7_75991342_76053000 | 76045280 | A | AAATAGAT others(18): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01934.hp2 HG01943.hp2 others(30): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0008 | a0002c0004t0001g0165a0002c0004t0001g0174a0002c0004t0001g0175others(30): Show | 33 | 356 | 0.0927 | 25 | c.-5+ others(40): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
SUCLG2_chr3_67369719_67659612 | 67422473 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01167.hp2 NA18940.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0032a0001c0001t0002g0181a0001c0001t0004g0195others(2): Show | 5 | 280 | 0.0179 | 25 | c.106 others(46): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 9/10 | chr3 | TogoVar |