Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ST8SIA6_chr10_17310421_17459595	17323229	G G	GCGCACGC others(9): Show GCGCACGCACACACACA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 NA20752.hp1 HG01168.hp2 HG01169.hp2 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0277 a0001c0003t0003g0278 a0001c0003t0003g0279 a0001c0003t0003g0277 a0001c0003t0003g0278 a0001c0003t0003g0279	3	296	0.0101	16	c.636 others(29): Show c.636-73_636-72insTGTGTGTGTGCGTGCG	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	6/7			chr10	TogoVar
ST8SIA6_chr10_17310421_17459595	17333717	A A	ATATATTT others(9): Show ATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0064 a0001c0001t0004g0064	1	296	0.0034	16	c.378 others(33): Show c.378-2166_378-2165insAAAAAAAAAAAATATA	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	4/7			chr10	TogoVar
ST8SIA6_chr10_17310421_17459595	17347953	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0278 a0001c0003t0003g0278	1	296	0.0034	16	c.377 others(35): Show c.377+11545_377+11560dupTTTTTTTTTTTTTTTT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	4/7			chr10	TogoVar
ST8SIA6_chr10_17310421_17459595	17368407	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01993.hp2 HG03704.hp1 others(1): Show HG00642.hp2 HG01993.hp2 HG03704.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0057 a0001c0001t0002g0067 others(1): Show a0001c0001t0002g0049 a0001c0001t0002g0057 a0001c0001t0002g0067 a0001c0001t0002g0112	4	296	0.0135	16	c.291 others(33): Show c.291-8823_291-8808dupTTTTTTTTTTTTTTTT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	3/7			chr10	TogoVar
ST8SIA6_chr10_17310421_17459595	17374764	T T	TATATATA others(9): Show TATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp2 HG02145.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0287 a0001c0001t0014g0288 a0001c0001t0014g0287 a0001c0001t0014g0288	2	296	0.0068	16	c.291 others(35): Show c.291-15165_291-15164insGTGTATATATATATAT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	3/7			chr10	TogoVar
ST8SIA6_chr10_17310421_17459595	17380853	T T	TTGTGTGT others(9): Show TTGTGTGTATGTGTGTA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp2 HG03516.hp1 HG02970.hp1 HG02970.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0002c0002t0001 a0002c0002t0007 a0001c0001t0014 a0002c0002t0001 a0002c0002t0007	a0001c0001t0014g0288 a0002c0002t0001g0014 a0002c0002t0007g0016 a0001c0001t0014g0288 a0002c0002t0001g0014 a0002c0002t0007g0016	3	296	0.0101	16	c.290 others(33): Show c.290+9677_290+9678insTACACACATACACACA	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	3/7			chr10	TogoVar
ST8SIA6_chr10_17310421_17459595	17441304	C C	CTTTATTT others(9): Show CTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00639.hp2 others(52): Show HG00280.hp1 HG00438.hp1 HG00639.hp2 HG00642.hp1 HG01884.hp2 HG01975.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03516.hp2 HG03579.hp2 HG03834.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp1 NA18972.hp2 NA18990.hp1 NA18998.hp2 NA19005.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19063.hp1 NA19078.hp1 NA19079.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0028 a0001c0001t0029 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0002c0002t0013 a0002c0002t0017	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0040 others(52): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0040 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0252 a0001c0001t0001g0260 a0001c0001t0001g0268 a0001c0001t0002g0038 a0001c0001t0002g0070 a0001c0001t0002g0282 a0001c0001t0003g0069 a0001c0001t0003g0254 a0001c0001t0003g0257 a0001c0001t0003g0262 a0001c0001t0003g0281 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0004g0043 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0037 a0001c0001t0005g0039 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0006g0261 a0001c0001t0006g0289 a0001c0001t0006g0292 a0001c0001t0007g0251 a0001c0001t0007g0263 a0001c0001t0007g0264 a0001c0001t0012g0047 a0001c0001t0014g0287 a0001c0001t0014g0288 a0001c0001t0016g0266 a0001c0001t0016g0267 a0001c0001t0017g0265 a0001c0001t0018g0293 a0001c0001t0018g0294 a0001c0001t0019g0286 a0001c0001t0028g0029 a0001c0001t0029g0030 a0002c0002t0001g0004 a0002c0002t0003g0005 a0002c0002t0003g0007 a0002c0002t0006g0002 a0002c0002t0013g0003 a0002c0002t0017g0017	55	296	0.1858	16	c.200 others(35): Show c.200+12239_200+12254dupTAAATAAATAAATAAA	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	2/7			chr10	TogoVar
STAB1_chr3_52490338_52529495	52518905	G G	GCCCCGCC others(9): Show GCCCCGCCCCGCCCCGT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0044 a0044	a0044c0074 a0044c0074	a0044c0074t0001 a0044c0074t0001	a0044c0074t0001g0091 a0044c0074t0001g0091	1	368	0.0027	16	c.503 others(31): Show c.5034+50_5034+51insGTCCCCGCCCCGCCCC	STAB1	ENSG00000010327.10	transcript	ENST00000321725.10	protein_coding	48/68		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAB2_chr12_103582273_103771719	103653710	A A	AGATGGAT others(9): Show AGATGGATGGATGGATG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0047 a0047	a0047c0140 a0047c0140	a0047c0140t0001 a0047c0140t0001	a0047c0140t0001g0217 a0047c0140t0001g0217	1	256	0.0039	16	c.140 others(33): Show c.1408-824_1408-809dupGATGGATGGATGGATG	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding	12/68		INFO_REALIGN_3_PRIME	chr12	TogoVar
STAB2_chr12_103582273_103771719	103685422	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01952.hp1 HG01433.hp2 HG01952.hp1	a0001 a0001	a0001c0014 a0001c0033 a0001c0014 a0001c0033	a0001c0014t0001 a0001c0033t0001 a0001c0014t0001 a0001c0033t0001	a0001c0014t0001g0196 a0001c0033t0001g0153 a0001c0014t0001g0196 a0001c0033t0001g0153	2	256	0.0078	16	c.299 others(33): Show c.2997+355_2997+370dupTGTGTGTGTGTGTGTG	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding	27/68		INFO_REALIGN_3_PRIME	chr12	TogoVar
STAB2_chr12_103582273_103771719	103756996	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03540.hp1 HG03516.hp2 HG03540.hp1	a0006 a0006	a0006c0098 a0006c0099 a0006c0098 a0006c0099	a0006c0098t0001 a0006c0099t0004 a0006c0098t0001 a0006c0099t0004	a0006c0098t0001g0004 a0006c0099t0004g0013 a0006c0098t0001g0004 a0006c0099t0004g0013	2	256	0.0078	16	c.698 others(35): Show c.6988-1154_6988-1139dupTATATATATATATATA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding	63/68		INFO_REALIGN_3_PRIME	chr12	TogoVar
STAC2_chr17_39205541_39230945	39227014	C C	CTTCTTTT others(9): Show CTTCTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0003 a0005c0012t0003	a0005c0012t0003g0182 a0005c0012t0003g0182	1	368	0.0027	16	c.-15 others(27): Show c.-1513_-1512insAAAAAAAAAAAAAGAA	STAC2	ENSG00000141750.7	transcript	ENST00000333461.6	protein_coding		1070		chr17	TogoVar
STAC_chr3_36375504_36553007	36398320	C C	CAAGAAAG others(9): Show CAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01361.hp2 HG02040.hp1 HG01255.hp2 HG01361.hp2 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0002g0172 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0002g0172	3	316	0.0095	16	c.111 others(35): Show c.111+17601_111+17616dupGAAAGAAAGAAAGAAA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36398320	C C	CAAGCAAG others(9): Show CAAGCAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp2 NA18985.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0113 a0001c0001t0002g0112 a0001c0001t0001g0113 a0001c0001t0002g0112	2	316	0.0063	16	c.111 others(35): Show c.111+17569_111+17570insCAAGAAAGAAAGAAAG	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36398368	A A	AAAGAAAG others(9): Show AAAGAAAGAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02717.hp1 NA18940.hp1 others(2): Show HG02015.hp1 HG02717.hp1 NA18940.hp1 NA18945.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0249 others(2): Show a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0249 a0001c0001t0001g0269 a0001c0001t0002g0076	5	316	0.0158	16	c.111 others(35): Show c.111+17616_111+17617insGAAAGAAAGAAAAGAA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36398414	G G	GGGAAGGA others(9): Show GGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	316	0.0032	16	c.111 others(35): Show c.111+17708_111+17723dupAGGAAGGAAGGAAGGA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36398559	G G	GGGAAGGA others(9): Show GGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp2 HG00738.hp2 others(35): Show HG00280.hp1 HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG01433.hp1 HG01934.hp2 HG01943.hp1 HG02015.hp2 HG02129.hp1 HG02258.hp2 HG02683.hp1 HG02717.hp2 HG02895.hp1 HG02897.hp2 HG03239.hp1 HG03669.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp2 NA18954.hp1 NA18965.hp2 NA18972.hp2 NA18983.hp2 NA19003.hp1 NA19054.hp1 NA19058.hp2 NA19077.hp1 NA19090.hp1 NA20129.hp1 NA20905.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0001 a0001c0011 a0003c0004 others(2): Show a0001c0001 a0001c0011 a0003c0004 a0004c0012 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0011t0001 a0003c0004t0001 a0004c0012t0001 a0007c0008t0012	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0085 others(35): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0107 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0129 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0002g0124 a0001c0001t0002g0130 a0001c0001t0002g0135 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0170 a0001c0001t0002g0204 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0254 a0001c0001t0004g0144 a0001c0001t0004g0304 a0001c0001t0014g0140 a0001c0011t0001g0102 a0003c0004t0001g0164 a0004c0012t0001g0089 a0007c0008t0012g0115	38	316	0.1203	16	c.111 others(35): Show c.111+17831_111+17846dupGAAGGAAGGAAGGAAG	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAA others(9): Show AAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0201 a0001c0001t0013g0201	1	316	0.0032	16	c.688 others(33): Show c.688-1119_688-1118insAAAAAAAATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAA others(9): Show AAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	316	0.0032	16	c.688 others(33): Show c.688-1119_688-1118insAAAAAATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAATA others(9): Show AAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA19063.hp2 HG03704.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0104 a0001c0001t0002g0281 a0001c0001t0001g0104 a0001c0001t0002g0281	2	316	0.0063	16	c.688 others(33): Show c.688-1119_688-1118insAAAATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAATATA others(9): Show AAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	316	0.0032	16	c.688 others(33): Show c.688-1119_688-1118insAATATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	316	0.0032	16	c.688 others(33): Show c.688-1099_688-1084dupATATATATATATATAT	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAG1_chr3_136331236_136757378	136354754	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01169.hp1 HG02055.hp2 others(11): Show HG00597.hp1 HG01169.hp1 HG02055.hp2 HG02109.hp2 HG02486.hp2 HG02572.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG03471.hp1 HG03492.hp2 HG03579.hp2 NA18953.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0020 a0002c0003t0002 a0002c0003t0011 a0003c0004t0006	a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 others(11): Show a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0232 a0001c0001t0003g0211 a0001c0001t0004g0113 a0001c0001t0004g0119 a0001c0001t0006g0091 a0001c0001t0006g0096 a0001c0001t0020g0019 a0002c0003t0002g0139 a0002c0003t0002g0141 a0002c0003t0011g0153 a0003c0004t0006g0095	14	240	0.0583	16	c.306 others(35): Show c.3065+2965_3065+2966insTTTTTTTTTTTTTTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	28/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136377386	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01516.hp2 HG02451.hp2 others(3): Show HG01261.hp2 HG01516.hp2 HG02451.hp2 HG02486.hp2 HG02896.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0063 a0001c0001t0002g0089 a0001c0001t0004g0097 others(3): Show a0001c0001t0001g0063 a0001c0001t0002g0089 a0001c0001t0004g0097 a0001c0001t0004g0105 a0001c0001t0004g0122 a0001c0001t0006g0126	6	240	0.0250	16	c.237 others(33): Show c.2370+258_2370+273dupTTTTTTTTTTTTTTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	23/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136396520	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01071.hp2 HG02015.hp1 others(4): Show HG00621.hp1 HG01071.hp2 HG02015.hp1 NA18989.hp2 NA18990.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0086 a0001c0001t0003g0199 a0001c0001t0003g0200 others(4): Show a0001c0001t0002g0086 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0204 a0001c0001t0003g0208 a0001c0001t0003g0229 a0001c0001t0003g0234	7	240	0.0292	16	c.227 others(35): Show c.2277+2213_2277+2228dupAAAAAAAAAAAAAAAA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	22/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136418360	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0151 a0002c0003t0008g0151	1	240	0.0042	16	c.210 others(33): Show c.2109-404_2109-389dupTTTTTTTTTTTTTTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	20/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136430806	G G	GACACACA others(9): Show GACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0220	1	240	0.0042	16	c.165 others(35): Show c.1650+2734_1650+2749dupGTGTGTGTGTGTGTGT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	16/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136439389	G G	GACACACA others(9): Show GACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0149 a0002c0003t0002g0149	1	240	0.0042	16	c.154 others(35): Show c.1546+3882_1546+3897dupGTGTGTGTGTGTGTGT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	15/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136486999	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0127 a0001c0001t0004g0127	1	240	0.0042	16	c.903 others(33): Show c.903-9603_903-9588dupTTTTTTTTTTTTTTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498233	T T	TATATATA others(9): Show TATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18950.hp2 HG00609.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0207 a0001c0001t0003g0220 a0001c0001t0003g0207 a0001c0001t0003g0220	2	240	0.0083	16	c.902 others(33): Show c.902+1989_902+1990insGTGTATATATATATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498233	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03239.hp2 HG04199.hp1 HG01433.hp1 HG03239.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0060 a0001c0001t0001g0078 a0001c0002t0002g0132 a0001c0001t0001g0060 a0001c0001t0001g0078 a0001c0002t0002g0132	3	240	0.0125	16	c.902 others(33): Show c.902+1989_902+1990insGTATATATATATATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498257	C C	CACACATA others(9): Show CACACATACATATACAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02451.hp1 HG02970.hp2 others(2): Show HG01109.hp2 HG02451.hp1 HG02970.hp2 HG03579.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0009 a0001c0002 a0002c0003 a0002c0009	a0001c0002t0005 a0002c0003t0002 a0002c0009t0002 a0001c0002t0005 a0002c0003t0002 a0002c0009t0002	a0001c0002t0005g0175 a0001c0002t0005g0189 a0002c0003t0002g0144 others(2): Show a0001c0002t0005g0175 a0001c0002t0005g0189 a0002c0003t0002g0144 a0002c0003t0002g0145 a0002c0009t0002g0129	5	240	0.0208	16	c.902 others(33): Show c.902+1965_902+1966insATGTATATGTATGTGT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136540822	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG03471.hp2 HG00423.hp1 HG00621.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0009 a0001c0001t0003g0210 a0001c0001t0003g0229 a0001c0001t0002g0009 a0001c0001t0003g0210 a0001c0001t0003g0229	3	240	0.0125	16	c.471 others(33): Show c.471+1281_471+1296dupTTTTTTTTTTTTTTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	6/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136551197	T T	TTGAGAGA others(9): Show TTGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03516.hp2 HG02965.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0188 a0001c0002t0002g0006 a0001c0002t0002g0188	2	240	0.0083	16	c.395 others(33): Show c.395-9003_395-9002insCTCTCTCTCTCTCTCA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	5/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136559124	C C	CCTATCTA others(9): Show CCTATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	240	0.0042	16	c.394 others(33): Show c.394+9625_394+9640dupATAGATAGATAGATAG	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	5/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136564963	G G	GAGGAAGG others(9): Show GAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03710.hp2 HG06807.hp2 HG03041.hp2 HG03710.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0009 a0001c0001t0001 a0001c0001t0002 a0001c0002t0009	a0001c0001t0001g0077 a0001c0001t0002g0007 a0001c0002t0009g0002 a0001c0001t0001g0077 a0001c0001t0002g0007 a0001c0002t0009g0002	3	240	0.0125	16	c.394 others(33): Show c.394+3786_394+3801dupTCCTTCCTTCCTTCCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	5/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136565011	A A	AAGGAAGG others(9): Show AAGGAAGGAAGGAAGGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18953.hp1 NA18990.hp2 HG00140.hp2 NA18953.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0048 a0001c0001t0001g0081 a0001c0001t0001g0082	3	240	0.0125	16	c.394 others(33): Show c.394+3753_394+3754insGCCTTCCTTCCTTCCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	5/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136565011	A A	AAGGAAGG others(9): Show AAGGAAGGAAGGCAGGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0137 a0001c0002t0002g0137	1	240	0.0042	16	c.394 others(33): Show c.394+3753_394+3754insGCCTGCCTTCCTTCCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	5/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136565042	A A	AAGGGAGG others(9): Show AAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0130 a0001c0002t0002g0130	1	240	0.0042	16	c.394 others(33): Show c.394+3707_394+3722dupCCCTCCCTCCCTCCCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	5/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136633962	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02074.hp2 NA18984.hp1 HG01433.hp2 HG02074.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0066 a0001c0001t0001g0240 a0001c0002t0005g0179 a0001c0001t0001g0066 a0001c0001t0001g0240 a0001c0002t0005g0179	3	240	0.0125	16	c.-83 others(33): Show c.-83-2997_-83-2982dupTTTTTTTTTTTTTTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136656617	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00609.hp2 others(27): Show HG00280.hp1 HG00323.hp1 HG00609.hp2 HG00735.hp2 HG01074.hp2 HG01361.hp1 HG01884.hp2 HG02258.hp2 HG02559.hp1 HG02615.hp2 HG02723.hp1 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG03195.hp1 HG03209.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG04184.hp2 HG04228.hp1 NA18950.hp2 NA18971.hp1 NA18973.hp1 NA19000.hp1 NA19005.hp2 NA19074.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0016 a0001c0002t0002 a0001c0002t0005 a0001c0010t0003 a0002c0003t0002 a0002c0003t0008 a0003c0004t0003	a0001c0001t0001g0206 a0001c0001t0003g0207 a0001c0001t0003g0216 others(27): Show a0001c0001t0001g0206 a0001c0001t0003g0207 a0001c0001t0003g0216 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0224 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0105 a0001c0001t0004g0107 a0001c0001t0004g0120 a0001c0001t0004g0122 a0001c0001t0006g0091 a0001c0001t0010g0010 a0001c0001t0016g0236 a0001c0002t0002g0006 a0001c0002t0002g0157 a0001c0002t0005g0185 a0001c0002t0005g0235 a0001c0002t0005g0237 a0001c0010t0003g0227 a0002c0003t0002g0143 a0002c0003t0002g0146 a0002c0003t0002g0147 a0002c0003t0008g0012 a0002c0003t0008g0150 a0002c0003t0008g0151 a0003c0004t0003g0222	30	240	0.1250	16	c.-83 others(35): Show c.-83-25652_-83-25637dupCACACACACACACACA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136668338	C C	CATATATT others(9): Show CATATATTATACATGAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0193 a0001c0002t0014g0193	1	240	0.0042	16	c.-83 others(35): Show c.-83-37373_-83-37358dupATCATGTATAATATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136674154	A A	AGAGGGAG others(9): Show AGAGGGAGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02055.hp1 HG02109.hp1 others(4): Show HG01433.hp1 HG02055.hp1 HG02109.hp1 HG02486.hp1 HG02723.hp1 HG06807.hp2 NA18906.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0003c0008 a0001c0002 a0002c0003 a0003c0008	a0001c0002t0002 a0001c0002t0009 a0002c0003t0002 others(1): Show a0001c0002t0002 a0001c0002t0009 a0002c0003t0002 a0003c0008t0009	a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0157 others(4): Show a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0157 a0001c0002t0009g0002 a0002c0003t0002g0148 a0002c0003t0002g0152 a0003c0008t0009g0001	7	240	0.0292	16	c.-83 others(35): Show c.-83-43174_-83-43173insCCTCCCTCTCTCCCTC	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136702075	A A	AAGAGAGA others(9): Show AAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	240	0.0042	16	c.-84 others(35): Show c.-84+50104_-84+50119dupCTCTCTCTCTCTCTCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33			chr3	TogoVar
STAG2_chrX_123956706_124107656	123983974	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02257.hp2 HG02809.hp1 others(2): Show HG01952.hp1 HG02257.hp2 HG02809.hp1 HG02897.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0172 others(2): Show a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0190	5	276	0.0181	16	c.-16 others(37): Show c.-163+22124_-163+22139dupTTTTTTTTTTTTTTTT	STAG2	ENSG00000101972.20	transcript	ENST00000371145.8	protein_coding	1/34		INFO_REALIGN_3_PRIME	chrX	TogoVar
STAG2_chrX_123956706_124107656	124009431	G G	GTAGATAG others(9): Show GTAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18991.hp1 HG01433.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0161 a0001c0001t0001g0146 a0001c0001t0001g0161	2	276	0.0073	16	c.-16 others(37): Show c.-162-11933_-162-11932insATAGATAGATAGATAG	STAG2	ENSG00000101972.20	transcript	ENST00000371145.8	protein_coding	1/34		INFO_REALIGN_3_PRIME	chrX	TogoVar
STAG2_chrX_123956706_124107656	124009435	G G	GTAGATAG others(9): Show GTAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	276	0.0036	16	c.-16 others(37): Show c.-162-11929_-162-11928insATAGATAGATAGATAG	STAG2	ENSG00000101972.20	transcript	ENST00000371145.8	protein_coding	1/34		INFO_REALIGN_3_PRIME	chrX	TogoVar
STAG2_chrX_123956706_124107656	124009439	G G	GTAGATAG others(9): Show GTAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	276	0.0036	16	c.-16 others(37): Show c.-162-11925_-162-11924insATAGATAGATAGATAG	STAG2	ENSG00000101972.20	transcript	ENST00000371145.8	protein_coding	1/34		INFO_REALIGN_3_PRIME	chrX	TogoVar
STAG2_chrX_123956706_124107656	124009443	G G	GTAGATAG others(9): Show GTAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0008	1	276	0.0036	16	c.-16 others(37): Show c.-162-11905_-162-11890dupGATAGATAGATAGATA	STAG2	ENSG00000101972.20	transcript	ENST00000371145.8	protein_coding	1/34		INFO_REALIGN_3_PRIME	chrX	TogoVar
STAM2_chr2_152111801_152180763	152111819	A A	AGATATGA others(9): Show AGATATGATCTCAAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	360	0.0028	16	c.87 others(27): Show c.8754_*8755insCCTTTGAGATCATATC	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding		4981		chr2	TogoVar

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