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
SNX6_chr14_34556093_34635148	34578937	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0082 a0001c0002t0002g0082	1	322	0.0031	20	c.834 others(37): Show c.834+2604_834+2623dupTTTTTTTTTTTTTTTTTTTT	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding	10/13			chr14	TogoVar
SNX7_chr1_98656721_98765500	98763441	A A	AATATATA others(13): Show AATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01255.hp2 HG04228.hp2 HG00140.hp2 HG01255.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0309 a0001c0001t0001g0314 a0001c0001t0001g0290 a0001c0001t0001g0309 a0001c0001t0001g0314	3	378	0.0079	20	c.33 others(31): Show c.3310_*3311insATATATATATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2942		chr1	TogoVar
SNX9_chr6_157818246_157950077	157826834	A A	ATATAAAT others(13): Show ATATAAATATATATTATATTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02572.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0294 a0001c0001t0005g0295	2	302	0.0066	20	c.12+ others(35): Show c.12+3392_12+3393insAATATATATTATATTTTATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157914469	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0302 a0001c0001t0018g0302	1	302	0.0033	20	c.949 others(37): Show c.949+4448_949+4467dupTTTTTTTTTTTTTTTTTTTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0053 a0002c0002t0002g0053	1	302	0.0033	20	c.949 others(37): Show c.949+5616_949+5617insAAAAAAAAAAAATATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOAT1_chr1_179288797_179363680	179351720	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0046 a0001c0004t0046	a0001c0004t0046g0146 a0001c0004t0046g0146	1	382	0.0026	20	c.159 others(37): Show c.1596+258_1596+259insTTTTTTTTTTTTTTTTTTTT	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15			chr1	TogoVar
SOAT1_chr1_179288797_179363680	179351721	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0022 a0007c0018t0022	a0007c0018t0022g0365 a0007c0018t0022g0365	1	382	0.0026	20	c.159 others(37): Show c.1596+275_1596+276insTTTTTTTTTTTTTTTTTTTT	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOBP_chr6_107485117_107666306	107489860	G G	GGGGGGCG others(13): Show GGGGGGCGCCGCGAGCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01884.hp2 HG02258.hp2 others(8): Show HG01169.hp2 HG01884.hp2 HG02258.hp2 HG02717.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03471.hp2 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0197 a0001c0001t0007g0201 a0001c0001t0007g0202 others(8): Show a0001c0001t0007g0197 a0001c0001t0007g0201 a0001c0001t0007g0202 a0001c0001t0007g0204 a0001c0001t0007g0205 a0001c0001t0008g0198 a0001c0001t0008g0199 a0001c0001t0008g0200 a0001c0001t0008g0206 a0001c0001t0008g0207 a0001c0001t0008g0208	11	296	0.0372	20	c.-75 others(29): Show c.-757_-756insGGGGGCGCCGCGAGCCGCCC	SOBP	ENSG00000112320.12	transcript	ENST00000317357.10	protein_coding		256		chr6	TogoVar
SOBP_chr6_107485117_107666306	107656301	A A	AAGACAGA others(13): Show AAGACAGAAAGAAAGAAAGAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18957.hp1 HG02622.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0049 a0001c0001t0011 a0001c0001t0049	a0001c0001t0011g0295 a0001c0001t0049g0120 a0001c0001t0011g0295 a0001c0001t0049g0120	2	296	0.0068	20	c.4- others(35): Show c.4-1903_*4-1902insCAGAAAGAAAGAAAGACAGA	SOBP	ENSG00000112320.12	transcript	ENST00000317357.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOCS4_chr14_55022236_55054489	55041783	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02602.hp2 NA18906.hp1 others(1): Show HG01978.hp2 HG02602.hp2 NA18906.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0150 a0001c0001t0002g0027 a0001c0001t0002g0150	4	394	0.0102	20	c.-90 others(37): Show c.-90-1162_-90-1143dupTTTTTTTTTTTTTTTTTTTT	SOCS4	ENSG00000180008.9	transcript	ENST00000555846.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
SOCS6_chr18_70284045_70335199	70288987	A A	AGGAGGAG others(13): Show AGGAGGAGGAGGAAGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	358	0.0028	20	c.-23 others(29): Show c.-230_-229insGGAGGAGGAGGAAGGAGGCG	SOCS6	ENSG00000170677.6	transcript	ENST00000397942.4	protein_coding		57		chr18	TogoVar
SOCS7_chr17_38346844_38410593	38387111	A A	ATATATAT others(13): Show ATATATATATATATGTATGTG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0007 a0002c0003t0010g0007	1	289	0.0035	20	c.168 others(39): Show c.1682-8185_1682-8184insGTATGTGTATATATATATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38387133	G G	GTGTATGT others(13): Show GTGTATGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0036 a0001c0002t0005g0036	1	289	0.0035	20	c.168 others(39): Show c.1682-8175_1682-8174insGTATGTATATATATATATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38389863	G G	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0103 a0001c0002t0050g0103	1	289	0.0035	20	c.168 others(39): Show c.1682-5443_1682-5442insGTATATATATATATATATGT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOD1_chr21_31654693_31673931	31656632	T T	TCTTCCCT others(13): Show TCTTCCCTCCCTCCCTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	426	0.0024	20	c.-31 others(31): Show c.-3138_-3137insCTTCCCTCCCTCCCTCCTTC	SOD1	ENSG00000142168.15	transcript	ENST00000270142.11	protein_coding		3060		chr21	TogoVar
SOGA1_chr20_36772447_36868538	36810717	C C	CCTCTCCC others(13): Show CCTCTCCCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02027.hp1 HG01081.hp2 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0107 a0001c0003t0001g0027 a0001c0001t0001g0107 a0001c0003t0001g0027	2	282	0.0071	20	c.245 others(37): Show c.2458-611_2458-610insAGAGAGAGAGAGAGGGAGAG	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	6/14			chr20	TogoVar
SOGA1_chr20_36772447_36868538	36810717	C C	CCTCTCTC others(13): Show CCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18979.hp1 HG03688.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0131 a0001c0001t0001g0118 a0001c0001t0001g0131	2	282	0.0071	20	c.245 others(37): Show c.2458-630_2458-611dupAGAGAGAGAGAGAGAGAGAG	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	6/14			chr20	TogoVar
SOHLH1_chr9_135688407_135704481	135700648	T T	TGGCATCC others(13): Show TGGCATCCTGGACTTTGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0006 a0003c0003t0001g0006	1	418	0.0024	20	c.-12 others(31): Show c.-1201_-1182dupGGCCCAAAGTCCAGGATGCC	SOHLH1	ENSG00000165643.11	transcript	ENST00000425225.2	protein_coding		1168		chr9	TogoVar
SOHLH2_chr13_36163217_36219556	36184460	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp2 HG01192.hp2 others(11): Show HG00738.hp1 HG01099.hp2 HG01192.hp2 HG01433.hp1 HG02004.hp2 HG02155.hp2 HG02523.hp1 HG03017.hp2 HG03041.hp1 HG03239.hp1 HG03491.hp2 HG03831.hp2 HG03834.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0001t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0097 a0001c0001t0001g0183 a0001c0003t0001g0212 others(10): Show a0001c0001t0001g0097 a0001c0001t0001g0183 a0001c0003t0001g0212 a0001c0003t0001g0223 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0236 a0001c0003t0001g0239 a0001c0003t0001g0240 a0001c0003t0001g0244 a0001c0003t0001g0246 a0001c0003t0001g0308 a0001c0005t0001g0031	14	420	0.0333	20	c.641 others(37): Show c.641+5485_641+5486insAAAAAAAAAAAAAAAAAAAA	SOHLH2	ENSG00000120669.16	transcript	ENST00000379881.8	protein_coding	6/10			chr13	TogoVar
SORBS1_chr10_95306773_95566371	95347441	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0030 a0001c0011t0030	a0001c0011t0030g0034 a0001c0011t0030g0034	1	300	0.0033	20	c.238 others(37): Show c.2383-990_2383-989insAAAAAAAAAAAAAAAAAAAA	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	25/32			chr10	TogoVar
SORBS1_chr10_95306773_95566371	95365171	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18983.hp2 NA18991.hp2 others(4): Show NA18979.hp1 NA18983.hp2 NA18991.hp2 NA18999.hp2 NA19068.hp1 NA19081.hp2 NA20300.hp1	a0001 a0017 a0001 a0017	a0001c0001 a0017c0031 a0001c0001 a0017c0031	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0017c0031t0004	a0001c0001t0001g0269 a0001c0001t0004g0171 a0001c0001t0004g0182 others(4): Show a0001c0001t0001g0269 a0001c0001t0004g0171 a0001c0001t0004g0182 a0001c0001t0004g0192 a0001c0001t0008g0237 a0001c0001t0014g0024 a0017c0031t0004g0285	7	300	0.0233	20	c.195 others(39): Show c.1955+2478_1955+2479insCACACACACACACACACACA	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	22/32			chr10	TogoVar
SORBS1_chr10_95306773_95566371	95365173	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02698.hp2 HG02886.hp2 others(4): Show HG02109.hp1 HG02698.hp2 HG02886.hp2 HG03669.hp1 NA18962.hp1 NA19081.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0006 a0002c0019 others(2): Show a0001c0002 a0002c0006 a0002c0019 a0002c0036 a0003c0009	a0001c0002t0001 a0002c0006t0002 a0002c0019t0001 others(2): Show a0001c0002t0001 a0002c0006t0002 a0002c0019t0001 a0002c0036t0007 a0003c0009t0007	a0001c0002t0001g0108 a0001c0002t0001g0235 a0001c0002t0001g0274 others(4): Show a0001c0002t0001g0108 a0001c0002t0001g0235 a0001c0002t0001g0274 a0002c0006t0002g0147 a0002c0019t0001g0036 a0002c0036t0007g0286 a0003c0009t0007g0201	7	300	0.0233	20	c.195 others(39): Show c.1955+2457_1955+2476dupCACACACACACACACACACA	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	22/32			chr10	TogoVar
SORBS1_chr10_95306773_95566371	95378737	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01192.hp1 HG01257.hp2 others(1): Show HG00099.hp1 HG01192.hp1 HG01257.hp2 HG02630.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0002 a0002c0006t0002 a0001c0003t0002 a0002c0006t0002	a0001c0003t0002g0091 a0001c0003t0002g0207 a0001c0003t0002g0217 others(1): Show a0001c0003t0002g0091 a0001c0003t0002g0207 a0001c0003t0002g0217 a0002c0006t0002g0044	4	300	0.0133	20	c.165 others(39): Show c.1654-2701_1654-2682dupCACACACACACACACACACA	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	18/32			chr10	TogoVar
SORBS1_chr10_95306773_95566371	95467886	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG04204.hp2 NA18993.hp2 HG00735.hp2 HG04204.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0002 a0001c0003t0006 a0001c0001t0004 a0001c0003t0002 a0001c0003t0006	a0001c0001t0004g0159 a0001c0003t0002g0090 a0001c0003t0006g0150 a0001c0001t0004g0159 a0001c0003t0002g0090 a0001c0003t0006g0150	3	300	0.0100	20	c.-46 others(39): Show c.-46+23129_-46+23148dupAAAAAAAAAAAAAAAAAAAA	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	2/32			chr10	TogoVar
SORBS1_chr10_95306773_95566371	95494855	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01071.hp2 others(23): Show HG00099.hp1 HG00735.hp2 HG01071.hp2 HG01081.hp2 HG01192.hp1 HG01261.hp2 HG01975.hp1 HG02602.hp2 HG02630.hp1 HG02735.hp1 HG02886.hp1 HG03453.hp1 HG03654.hp1 HG03704.hp2 HG03834.hp2 HG04204.hp2 NA18940.hp2 NA18944.hp1 NA18953.hp1 NA18964.hp1 NA19074.hp2 NA19079.hp1 NA19083.hp2 NA19084.hp1 NA19240.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0012 a0001c0032 a0002c0006 a0002c0037	a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 others(9): Show a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0003t0002 a0001c0003t0006 a0001c0004t0001 a0001c0004t0010 a0001c0010t0005 a0001c0012t0004 a0001c0032t0002 a0002c0006t0002 a0002c0037t0034	a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0191 others(23): Show a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0191 a0001c0001t0006g0053 a0001c0002t0001g0299 a0001c0003t0002g0059 a0001c0003t0002g0090 a0001c0003t0002g0091 a0001c0003t0002g0146 a0001c0003t0002g0168 a0001c0003t0002g0190 a0001c0003t0002g0217 a0001c0003t0002g0240 a0001c0003t0002g0241 a0001c0003t0002g0262 a0001c0003t0006g0150 a0001c0003t0006g0183 a0001c0004t0001g0216 a0001c0004t0010g0249 a0001c0010t0005g0015 a0001c0010t0005g0297 a0001c0012t0004g0175 a0001c0032t0002g0129 a0002c0006t0002g0044 a0002c0006t0002g0089 a0002c0037t0034g0032	26	300	0.0867	20	c.-13 others(39): Show c.-131-3736_-131-3735insCAAATAAATAAATAAATAAA	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	1/32			chr10	TogoVar
SORBS2_chr4_185580523_185817194	185709304	C C	CCTTTTTT others(13): Show CCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00621.hp2 others(25): Show HG00099.hp1 HG00438.hp2 HG00621.hp2 HG01175.hp1 HG01261.hp1 HG01496.hp1 HG01978.hp1 HG02083.hp1 HG02145.hp2 HG02165.hp1 HG02293.hp2 HG02602.hp1 HG03209.hp2 HG03491.hp1 HG03831.hp1 HG04184.hp1 NA18944.hp2 NA18950.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18972.hp1 NA18977.hp1 NA19060.hp1 NA19077.hp1 NA19091.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0013 a0001 a0005 a0013	a0001c0001 a0001c0003 a0001c0040 others(2): Show a0001c0001 a0001c0003 a0001c0040 a0005c0019 a0013c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0027 a0001c0001t0041 a0001c0001t0048 a0001c0003t0001 a0001c0040t0030 a0005c0019t0032 a0013c0037t0003	a0001c0001t0001g0083 a0001c0001t0001g0116 a0001c0001t0001g0135 others(25): Show a0001c0001t0001g0083 a0001c0001t0001g0116 a0001c0001t0001g0135 a0001c0001t0002g0047 a0001c0001t0002g0140 a0001c0001t0002g0149 a0001c0001t0002g0153 a0001c0001t0002g0184 a0001c0001t0002g0204 a0001c0001t0002g0269 a0001c0001t0003g0055 a0001c0001t0003g0110 a0001c0001t0003g0190 a0001c0001t0004g0162 a0001c0001t0005g0071 a0001c0001t0006g0064 a0001c0001t0008g0097 a0001c0001t0009g0233 a0001c0001t0012g0075 a0001c0001t0013g0144 a0001c0001t0016g0031 a0001c0001t0027g0019 a0001c0001t0041g0007 a0001c0001t0048g0122 a0001c0003t0001g0301 a0001c0040t0030g0088 a0005c0019t0032g0244 a0013c0037t0003g0182	28	312	0.0897	20	c.-40 others(39): Show c.-40-18694_-40-18693insAAAAAAAAAAAAAAAAAAAG	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	3/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185709304	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG01074.hp2 others(15): Show HG00438.hp1 HG00609.hp1 HG01074.hp2 HG01346.hp1 HG02040.hp2 HG02293.hp1 HG02647.hp2 HG02809.hp1 HG03516.hp2 HG03704.hp2 NA18945.hp2 NA18949.hp1 NA18962.hp2 NA18971.hp2 NA18972.hp2 NA18991.hp1 NA19074.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0017 a0001c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0066 a0001c0002t0014 a0001c0007t0004 a0001c0017t0018 a0001c0029t0004	a0001c0001t0001g0054 a0001c0001t0001g0137 a0001c0001t0001g0159 others(15): Show a0001c0001t0001g0054 a0001c0001t0001g0137 a0001c0001t0001g0159 a0001c0001t0001g0258 a0001c0001t0002g0053 a0001c0001t0002g0126 a0001c0001t0002g0304 a0001c0001t0003g0115 a0001c0001t0003g0136 a0001c0001t0003g0176 a0001c0001t0003g0186 a0001c0001t0013g0173 a0001c0001t0013g0236 a0001c0001t0066g0103 a0001c0002t0014g0017 a0001c0007t0004g0090 a0001c0017t0018g0197 a0001c0029t0004g0085	18	312	0.0577	20	c.-40 others(39): Show c.-40-18713_-40-18694dupAAAAAAAAAAAAAAAAAAAA	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	3/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185731866	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0157 a0001c0001t0005g0157	1	312	0.0032	20	c.-41 others(37): Show c.-41+2232_-41+2233insTATATATATAGAGAGAGAGA	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	3/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185751190	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG01256.hp2 others(12): Show HG01074.hp1 HG01099.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01515.hp2 HG02451.hp2 HG02486.hp2 HG02723.hp1 HG03195.hp2 HG03239.hp1 NA18941.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0001c0036 a0001c0040 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0004t0005 a0001c0006t0017 a0001c0006t0019 a0001c0036t0006 a0001c0040t0030 a0002c0014t0014	a0001c0001t0001g0240 a0001c0001t0002g0304 a0001c0001t0010g0107 others(12): Show a0001c0001t0001g0240 a0001c0001t0002g0304 a0001c0001t0010g0107 a0001c0001t0011g0171 a0001c0001t0011g0249 a0001c0001t0011g0297 a0001c0001t0012g0133 a0001c0001t0012g0134 a0001c0001t0015g0080 a0001c0004t0005g0222 a0001c0006t0017g0309 a0001c0006t0019g0026 a0001c0036t0006g0101 a0001c0040t0030g0088 a0002c0014t0014g0294	15	312	0.0481	20	c.-96 others(39): Show c.-96-17037_-96-17036insCTTTTTTTTTTTTTTTTTTT	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	2/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185809455	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	312	0.0032	20	c.-23 others(39): Show c.-237+2189_-237+2208dupTTTTTTTTTTTTTTTTTTTT	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	1/26			chr4	TogoVar
SORCS1_chr10_106568663_107169706	106602512	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18981.hp1 HG02145.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0073 a0001c0002t0001g0095 a0001c0001t0001g0073 a0001c0002t0001g0095	2	130	0.0154	20	c.316 others(39): Show c.3165+4634_3165+4653dupGTGTGTGTGTGTGTGTGTGT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	23/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106725559	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0097 a0001c0003t0002g0097	1	130	0.0077	20	c.102 others(39): Show c.1024+4471_1024+4490dupATTTATTTATTTATTTATTT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	6/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106736602	T T	TTAAAAAA others(13): Show TTAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	130	0.0077	20	c.960 others(37): Show c.960-6489_960-6488insTTTTTTTTTTTTTTTTTTTA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	5/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106806384	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	130	0.0077	20	c.726 others(39): Show c.726+23170_726+23189dupATTTTATTTTATTTTATTTT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	3/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106878620	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19030.hp1 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0037 a0001c0002t0006g0051 a0001c0002t0001g0037 a0001c0002t0006g0051	2	130	0.0154	20	c.627 others(39): Show c.627-48948_627-48947insTATATATATATATATATACA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106878646	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02735.hp1 NA21309.hp1 HG00609.hp1 HG02735.hp1 NA21309.hp1	a0001 a0013 a0001 a0013	a0001c0002 a0001c0004 a0013c0017 a0001c0002 a0001c0004 a0013c0017	a0001c0002t0003 a0001c0004t0014 a0013c0017t0003 a0001c0002t0003 a0001c0004t0014 a0013c0017t0003	a0001c0002t0003g0032 a0001c0004t0014g0088 a0013c0017t0003g0020 a0001c0002t0003g0032 a0001c0004t0014g0088 a0013c0017t0003g0020	3	130	0.0231	20	c.627 others(39): Show c.627-48974_627-48973insAATATATATATATATATATA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106944874	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0121 a0001c0001t0009g0121	1	130	0.0077	20	c.626 others(39): Show c.626+11619_626+11638dupAAAAAAAAAAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106952542	A A	ATATATTA others(13): Show ATATATTATATTATATTATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG01884.hp1 HG02280.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0001 a0001c0001t0001 a0002c0006t0001	a0001c0001t0001g0006 a0002c0006t0001g0050 a0001c0001t0001g0006 a0002c0006t0001g0050	2	130	0.0154	20	c.626 others(37): Show c.626+3951_626+3970dupATATAATATAATATAATATA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106963110	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0080 a0001c0001t0004g0080	1	130	0.0077	20	c.559 others(37): Show c.559-6550_559-6531dupAAAAAAAAAAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106970336	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03579.hp1 NA18522.hp2 others(1): Show HG02615.hp2 HG03579.hp1 NA18522.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 others(1): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007	a0001c0002t0001 a0001c0003t0001 a0001c0005t0002 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0005t0002 a0001c0007t0016	a0001c0002t0001g0037 a0001c0003t0001g0090 a0001c0005t0002g0022 others(1): Show a0001c0002t0001g0037 a0001c0003t0001g0090 a0001c0005t0002g0022 a0001c0007t0016g0078	4	130	0.0308	20	c.559 others(39): Show c.559-13757_559-13756insAAAAAAAAAAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	107034680	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01106.hp2 HG03710.hp2 others(2): Show HG00597.hp2 HG01106.hp2 HG03710.hp2 NA18977.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0009 a0001c0002t0003 a0001c0003t0001 a0001c0001t0009 a0001c0002t0003 a0001c0003t0001	a0001c0001t0009g0121 a0001c0002t0003g0106 a0001c0002t0003g0112 others(2): Show a0001c0001t0009g0121 a0001c0002t0003g0106 a0001c0002t0003g0112 a0001c0002t0003g0114 a0001c0003t0001g0120	5	130	0.0385	20	c.559 others(39): Show c.559-78120_559-78101dupTTTTTTTTTTTTTTTTTTTT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	107065415	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02280.hp2 HG02622.hp1 others(5): Show HG01106.hp2 HG02280.hp2 HG02622.hp1 HG02723.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03225.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0004c0024 a0005c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0002t0002 a0001c0003t0001 a0004c0024t0001 a0005c0010t0001	a0001c0001t0001g0036 a0001c0001t0003g0042 a0001c0001t0009g0121 others(5): Show a0001c0001t0001g0036 a0001c0001t0003g0042 a0001c0001t0009g0121 a0001c0002t0002g0077 a0001c0003t0001g0056 a0004c0024t0001g0040 a0005c0010t0001g0125 a0005c0010t0001g0126	8	130	0.0615	20	c.558 others(39): Show c.558+98534_558+98553dupGAAAGAAAGAAAGAAAGAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	107065466	C C	CCCTCTCC others(13): Show CCCTCTCCTCTCCTCTCCTCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03139.hp2 HG02895.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0055 a0001c0002t0003g0058 a0001c0001t0001g0055 a0001c0002t0003g0058	2	130	0.0154	20	c.558 others(39): Show c.558+98483_558+98502dupAGAGGAGAGGAGAGGAGAGG	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	107165292	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0022 a0001c0005t0002g0022	1	130	0.0077	20	c.-76 others(29): Show c.-767_-766insACACACACACACACACACAC	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding		587		chr10	TogoVar
SORCS2_chr4_7187538_7747827	7290796	T T	TTTCATTC others(13): Show TTTCATTCATTCATTCATTCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0146 a0001c0048t0001g0146	1	168	0.0060	20	c.480 others(39): Show c.480+97675_480+97694dupTTCATTCATTCATTCATTCA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7302767	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0102 a0001c0005t0014g0102	1	168	0.0060	20	c.481 others(39): Show c.481-93520_481-93519insGTGTGTGTGTGTGTGTGTGT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7374129	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03453.hp1 HG02451.hp1 HG03453.hp1	a0001 a0005 a0001 a0005	a0001c0038 a0005c0021 a0001c0038 a0005c0021	a0001c0038t0038 a0005c0021t0070 a0001c0038t0038 a0005c0021t0070	a0001c0038t0038g0128 a0005c0021t0070g0103 a0001c0038t0038g0128 a0005c0021t0070g0103	2	168	0.0119	20	c.481 others(39): Show c.481-22109_481-22090dupCTTTCTTTCTTTCTTTCTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7386965	T T	TGCACACA others(13): Show TGCACACACACATGCACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0092 a0001c0001t0069g0092	1	168	0.0060	20	c.481 others(37): Show c.481-9322_481-9303dupGCACACACACATGCACACAC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7403961	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04115.hp2 HG06807.hp2 HG03239.hp2 HG04115.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0011 a0001c0003t0001 a0001c0003t0011 a0001c0002t0011 a0001c0003t0001 a0001c0003t0011	a0001c0002t0011g0112 a0001c0003t0001g0081 a0001c0003t0011g0080 a0001c0002t0011g0112 a0001c0003t0001g0081 a0001c0003t0011g0080	3	168	0.0179	20	c.548 others(37): Show c.548+7624_548+7643dupATATATATATATATATATAT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7403997	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0070 a0001c0002t0043g0070	1	168	0.0060	20	c.548 others(37): Show c.548+7643_548+7644insATATATATATATATATATTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar

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