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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEPTIN9_chr17_77276499_77505593 | 77485068 | G | GTGGGTGG others(94): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02630.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0048a0001c0001t0056 | a0001c0001t0023g0012a0001c0001t0048g0149a0001c0001t0056g0018 | 3 | 150 | 0.0200 | 101 | c.914 others(118): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77485068 | G | GTGGGTGG others(94): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02630.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0007 | a0001c0001t0005g0084a0001c0001t0006g0116a0001c0001t0007g0105 | 3 | 158 | 0.0190 | 101 | c.860 others(118): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | chr17 | TogoVar | ||||||
SERAC1_chr6_158104519_158173262 | 158169639 | A | ATATAATA others(94): Show |
upstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 366 | 0.0027 | 101 | c.-15 others(112): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1378 | chr6 | TogoVar | ||||||
SERP2_chr13_44368824_44402714 | 44374767 | T | TCTCTTTT others(94): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 | 1 | 354 | 0.0028 | 101 | c.84+ others(114): Show |
SERP2 | ENSG00000151778.11 | transcript | ENST00000379179.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SGSM2_chr17_2332501_2386054 | 2355288 | G | GGGGCAGG others(94): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0033 | 1 | 422 | 0.0024 | 101 | c.134 others(118): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SH3RF3_chr2_109124205_109509634 | 109199495 | G | GAATGGAA others(94): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0141 | 1 | 172 | 0.0058 | 101 | c.573 others(120): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SHISA9_chr16_12896598_13245416 | 13015951 | T | TTTCCCTT others(94): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0003 | a0003c0006 | a0003c0006t0019 | a0003c0006t0019g0022 | 1 | 214 | 0.0047 | 101 | c.691 others(120): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SHISA9_chr16_12896598_13245416 | 13015953 | T | TCCCTTCC others(94): Show |
intron_variant | MODIFIER | HG03453.hp2 HG06807.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0059 | a0001c0001t0003g0099a0001c0001t0013g0016a0001c0001t0059g0046 | 3 | 214 | 0.0140 | 101 | c.691 others(120): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SIMC1_chr5_176233424_176350989 | 176306199 | C | CGGGAGGG others(94): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0003 | a0003c0016 | a0003c0016t0001 | a0003c0016t0001g0348 | 1 | 360 | 0.0028 | 101 | c.173 others(120): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SLC12A7_chr5_1045384_1117063 | 1070567 | C | CCCCAGTG others(94): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0038 | a0002c0038t0014 | a0002c0038t0014g0118 | 1 | 118 | 0.0085 | 101 | c.224 others(120): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SLC25A41_chr19_6421037_6438763 | 6429030 | T | TATATATA others(94): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 350 | 0.0029 | 101 | c.624 others(116): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
SLC25A41_chr19_6421037_6438763 | 6429132 | A | ACATATAT others(94): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01175.hp2 HG01256.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221a0001c0001t0001g0254a0001c0001t0001g0280 | 3 | 350 | 0.0086 | 101 | c.624 others(116): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
SLC28A1_chr15_84879662_84950798 | 84928547 | T | TTTCTTTC others(94): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0228 | 1 | 396 | 0.0025 | 101 | c.108 others(120): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SLC34A3_chr9_137225901_137241555 | 137233909 | A | AGAACAGC others(94): Show |
intron_variant | MODIFIER | NA19004.hp2 NA19077.hp1 |
a0010 | a0010c0018 | a0010c0018t0001 | a0010c0018t0001g0003 | 2 | 420 | 0.0048 | 101 | c.925 others(114): Show |
SLC34A3 | ENSG00000198569.10 | transcript | ENST00000673835.1 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SLC41A3_chr3_126001357_126089124 | 126059263 | G | GAAAGAAA others(94): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0185 | 1 | 370 | 0.0027 | 101 | c.274 others(118): Show |
SLC41A3 | ENSG00000114544.17 | transcript | ENST00000360370.9 | protein_coding | 2/10 | chr3 | TogoVar | ||||||
SLC41A3_chr3_126001357_126089124 | 126059307 | A | AAAGAGAG others(94): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0051 | 1 | 370 | 0.0027 | 101 | c.274 others(118): Show |
SLC41A3 | ENSG00000114544.17 | transcript | ENST00000360370.9 | protein_coding | 2/10 | chr3 | TogoVar | ||||||
SLC44A5_chr1_75197129_75616114 | 75280434 | T | TTATATAT others(94): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02647.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012 | a0001c0001t0001g0087a0001c0001t0003g0024a0001c0001t0003g0071others(7): Show | 10 | 156 | 0.0641 | 101 | c.176 others(118): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | ||||||
SLC44A5_chr1_75197129_75616114 | 75280434 | T | TTGTATAT others(94): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0044a0001c0004t0001g0045 | 2 | 156 | 0.0128 | 101 | c.176 others(118): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | ||||||
SLC45A4_chr8_141202174_141313288 | 141203360 | G | GAGAGGGA others(94): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0001 | a0002c0001t0013 | a0002c0001t0013g0048 | 1 | 188 | 0.0053 | 101 | c.*82 others(112): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3813 | chr8 | TogoVar | ||||||
SLC7A10_chr19_33203664_33230850 | 33218662 | T | TTTCTTTC others(94): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 410 | 0.0024 | 101 | c.152 others(118): Show |
SLC7A10 | ENSG00000130876.11 | transcript | ENST00000253188.8 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
SLC7A10_chr19_33203664_33230850 | 33218666 | T | TTTCTTTT others(94): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01934.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0239a0001c0001t0001g0303a0001c0001t0001g0305others(12): Show | 16 | 410 | 0.0390 | 101 | c.152 others(118): Show |
SLC7A10 | ENSG00000130876.11 | transcript | ENST00000253188.8 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
SLC7A1_chr13_29504414_29600688 | 29558914 | G | GGGGAGTG others(94): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0191 | 1 | 330 | 0.0030 | 101 | c.-11 others(120): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar | ||||||
SLC7A1_chr13_29504414_29600688 | 29559472 | G | GGGGGGAG others(94): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02004.hp2 HG02132.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0002g0124a0001c0001t0002g0303a0001c0001t0003g0152others(4): Show | 7 | 330 | 0.0212 | 101 | c.-11 others(120): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar | ||||||
SLC9A8_chr20_49807828_49897242 | 49834375 | A | ATATACAC others(94): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01496.hp1 |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0036 | a0001c0002t0006g0186a0001c0002t0036g0188 | 2 | 360 | 0.0056 | 101 | c.290 others(118): Show |
SLC9A8 | ENSG00000197818.12 | transcript | ENST00000361573.3 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SLCO3A1_chr15_91848708_92170903 | 92143368 | T | TATTATAT others(94): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01169.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0054 | a0001c0001t0001g0087a0001c0001t0001g0109a0001c0001t0054g0172 | 3 | 190 | 0.0158 | 101 | c.151 others(120): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 7/9 | chr15 | TogoVar | ||||||
SLCO3A1_chr15_91848708_92170903 | 92143439 | A | ATATTATA others(94): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0119 | 1 | 190 | 0.0053 | 101 | c.151 others(120): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 7/9 | chr15 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168755407 | T | TTCTTCTT others(94): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0021 | a0002c0021t0002 | a0002c0021t0002g0059 | 1 | 132 | 0.0076 | 101 | c.168 others(120): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 16/35 | chr5 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241052756 | G | GCCAAGCA others(94): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01099.hp2 HG01123.hp2 others(59): Show |
a0001a0002a0006others(4): Show | a0001c0002a0001c0016a0001c0025others(12): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(30): Show | a0001c0002t0001g0182a0001c0002t0001g0324a0001c0002t0002g0184others(59): Show | 62 | 344 | 0.1802 | 101 | c.208 others(118): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 15/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1221644 | C | CTCTTTGT others(94): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03453.hp2 NA20300.hp2 |
a0001a0007 | a0001c0002a0007c0017a0007c0024 | a0001c0002t0001a0007c0017t0001a0007c0024t0002 | a0001c0002t0001g0041a0007c0017t0001g0105a0007c0024t0002g0073 | 3 | 190 | 0.0158 | 101 | c.719 others(120): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | chr2 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827490 | C | CTTATAGT others(94): Show |
intron_variant | MODIFIER | HG01346.hp2 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082a0001c0001t0001g0116 | 2 | 302 | 0.0066 | 101 | c.12+ others(116): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SORCS2_chr4_7187538_7747827 | 7676799 | T | TTCTCTCT others(94): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02886.hp1 |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0023 | a0001c0005t0001g0156a0001c0005t0023g0032 | 2 | 168 | 0.0119 | 101 | c.134 others(118): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SPAAR_chr9_35904490_35916686 | 35914358 | T | TGGTGTGT others(94): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 420 | 0.0024 | 101 | c.*36 others(112): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2673 | chr9 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24189683 | T | TATATATA others(94): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0006 | a0001c0006t0088 | a0001c0006t0088g0059 | 1 | 356 | 0.0028 | 101 | c.-11 others(122): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SPOCK3_chr4_166728384_167239494 | 167205242 | T | TTATATAT others(94): Show |
intron_variant | MODIFIER | HG01261.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0066a0001c0001t0013g0062 | 2 | 144 | 0.0139 | 101 | c.189 others(120): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | ||||||
SPOCK3_chr4_166728384_167239494 | 167205530 | T | TATTATAT others(94): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 | 1 | 144 | 0.0069 | 101 | c.189 others(120): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | ||||||
STIMATE_chr3_52831733_52902548 | 52832637 | G | GAGGGAGA others(94): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0158 | 1 | 334 | 0.0030 | 101 | c.*78 others(112): Show |
STIMATE | ENSG00000213533.13 | transcript | ENST00000355083.11 | protein_coding | 4095 | chr3 | TogoVar | ||||||
STIMATE_chr3_52831733_52902548 | 52832637 | G | GAGGGAGA others(94): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(140): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(115): Show | 143 | 334 | 0.4281 | 101 | c.*78 others(112): Show |
STIMATE | ENSG00000213533.13 | transcript | ENST00000355083.11 | protein_coding | 4095 | chr3 | TogoVar | ||||||
STIMATE_chr3_52831733_52902548 | 52832651 | T | TTGAGGTC others(94): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01070.hp1 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0021a0001c0001t0003g0023a0001c0001t0003g0045others(21): Show | 27 | 334 | 0.0808 | 101 | c.*78 others(112): Show |
STIMATE | ENSG00000213533.13 | transcript | ENST00000355083.11 | protein_coding | 4081 | chr3 | TogoVar | ||||||
STMN3_chr20_63634712_63658424 | 63650617 | A | ACCCGGGT others(94): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 388 | 0.0026 | 101 | c.19+ others(116): Show |
STMN3 | ENSG00000197457.10 | transcript | ENST00000370053.3 | protein_coding | 1/4 | chr20 | TogoVar | ||||||
STX6_chr1_180967725_181027870 | 181023028 | A | ATATATCT others(94): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0292 | 1 | 350 | 0.0029 | 101 | c.-35 others(110): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 159 | chr1 | TogoVar | ||||||
STX8_chr17_9245471_9580820 | 9430044 | A | ATTTATAT others(94): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0050 | 1 | 188 | 0.0053 | 101 | c.542 others(120): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | ||||||
SULT1B1_chr4_69716167_69765620 | 69762362 | G | GGGGGGGT others(94): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0003 | a0003c0003 | a0003c0003t0087 | a0003c0003t0087g0121 | 1 | 408 | 0.0025 | 101 | c.-19 others(112): Show |
SULT1B1 | ENSG00000173597.9 | transcript | ENST00000310613.8 | protein_coding | 1743 | chr4 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76172420 | T | TGGGGGGG others(94): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00733.hp1 others(33): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0006others(2): Show | a0001c0001t0008a0001c0001t0009a0001c0001t0010others(29): Show | a0001c0001t0008g0217a0001c0001t0009g0190a0001c0001t0010g0032others(33): Show | 36 | 234 | 0.1539 | 101 | c.581 others(120): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SV2C_chr5_76078383_76338956 | 76172420 | T | TGGGGGGG others(94): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0118 | a0001c0001t0118g0018 | 1 | 234 | 0.0043 | 101 | c.581 others(120): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SYT17_chr16_19163240_19273332 | 19252408 | T | TTGCCCAG others(94): Show |
intron_variant | MODIFIER | HG03490.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073a0001c0001t0001g0264 | 2 | 324 | 0.0062 | 101 | c.122 others(122): Show |
SYT17 | ENSG00000103528.17 | transcript | ENST00000355377.7 | protein_coding | 7/7 | chr16 | TogoVar | ||||||
SYT17_chr16_19163240_19273332 | 19252408 | T | TTGCCCAG others(94): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02145.hp2 HG02257.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0010a0001c0001t0019a0001c0001t0024others(11): Show | a0001c0001t0010g0055a0001c0001t0019g0211a0001c0001t0024g0037others(11): Show | 14 | 324 | 0.0432 | 101 | c.122 others(122): Show |
SYT17 | ENSG00000103528.17 | transcript | ENST00000355377.7 | protein_coding | 7/7 | chr16 | TogoVar | ||||||
SYT17_chr16_19163240_19273332 | 19252486 | T | TTGCCCAG others(94): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0050 | 1 | 324 | 0.0031 | 101 | c.122 others(122): Show |
SYT17 | ENSG00000103528.17 | transcript | ENST00000355377.7 | protein_coding | 7/7 | chr16 | TogoVar | ||||||
TBC1D16_chr17_79927343_80040872 | 79929984 | C | CCCTCCCC others(94): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0061 | 1 | 334 | 0.0030 | 101 | c.*10 others(114): Show |
TBC1D16 | ENSG00000167291.16 | transcript | ENST00000310924.7 | protein_coding | 2358 | chr17 | TogoVar | ||||||
TBC1D26_chr17_15727283_15749782 | 15730704 | T | TGTGTGTG others(94): Show |
upstream_gene_variant | MODIFIER | NA19075.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 1 | 464 | 0.0022 | 101 | c.-18 others(112): Show |
TBC1D26 | ENSG00000214946.15 | transcript | ENST00000437605.4 | protein_coding | 1578 | chr17 | TogoVar | ||||||
TBC1D26_chr17_15727283_15749782 | 15730704 | T | TGTGTGTG others(94): Show |
upstream_gene_variant | MODIFIER | NA18981.hp1 NA21309.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004a0002c0002t0002g0096 | 2 | 464 | 0.0043 | 101 | c.-18 others(112): Show |
TBC1D26 | ENSG00000214946.15 | transcript | ENST00000437605.4 | protein_coding | 1578 | chr17 | TogoVar |