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
RYR2_chr1_237037184_237838988	237331512	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0001 a0001c0001t0041g0001	1	100	0.0100	18	c.273 others(33): Show c.273+538_273+539insTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237390514	T T	TTATTATT others(11): Show TTATTATTTAGTCTGTTGC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp2 HG03471.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0035 a0001c0001 a0002c0035	a0001c0001t0004 a0002c0035t0021 a0001c0001t0004 a0002c0035t0021	a0001c0001t0004g0036 a0002c0035t0021g0010 a0001c0001t0004g0036 a0002c0035t0021g0010	2	100	0.0200	18	c.773 others(35): Show c.773+2346_773+2363dupTTGCTATTATTTAGTCTG	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237390517	T T	TTATTTAG others(11): Show TTATTTAGTCTGTTGCTAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02572.hp2 others(2): Show HG01168.hp1 HG01169.hp1 HG02572.hp2 HG03209.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0008 a0001c0023 others(2): Show a0001c0002 a0001c0008 a0001c0023 a0001c0048 a0002c0012	a0001c0002t0031 a0001c0008t0027 a0001c0023t0003 others(2): Show a0001c0002t0031 a0001c0008t0027 a0001c0023t0003 a0001c0048t0001 a0002c0012t0002	a0001c0002t0031g0033 a0001c0008t0027g0081 a0001c0023t0003g0071 others(2): Show a0001c0002t0031g0033 a0001c0008t0027g0081 a0001c0023t0003g0071 a0001c0048t0001g0007 a0002c0012t0002g0072	5	100	0.0500	18	c.773 others(35): Show c.773+2351_773+2352insCTATTTAGTCTGTTGCTA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237408392	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01928.hp1 others(5): Show HG01168.hp1 HG01169.hp1 HG01928.hp1 HG03195.hp2 HG03486.hp1 HG04228.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0018 a0001c0023 a0001c0047 a0002c0012	a0001c0001t0006 a0001c0002t0026 a0001c0003t0002 others(4): Show a0001c0001t0006 a0001c0002t0026 a0001c0003t0002 a0001c0018t0032 a0001c0023t0003 a0001c0047t0002 a0002c0012t0002	a0001c0001t0006g0025 a0001c0002t0026g0059 a0001c0003t0002g0065 others(5): Show a0001c0001t0006g0025 a0001c0002t0026g0059 a0001c0003t0002g0065 a0001c0003t0002g0087 a0001c0018t0032g0041 a0001c0023t0003g0071 a0001c0047t0002g0077 a0002c0012t0002g0072	8	100	0.0800	18	c.774 others(35): Show c.774-8643_774-8642insTATATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237436454	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG02055.hp1 others(5): Show HG01109.hp2 HG01243.hp2 HG02055.hp1 HG03098.hp1 HG03209.hp1 HG03486.hp1 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0001c0011 a0001c0014 a0001c0022	a0001c0001t0001 a0001c0001t0038 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0038 a0001c0002t0001 a0001c0002t0026 a0001c0008t0027 a0001c0011t0044 a0001c0014t0035 a0001c0022t0014	a0001c0001t0001g0099 a0001c0001t0038g0026 a0001c0002t0001g0070 others(5): Show a0001c0001t0001g0099 a0001c0001t0038g0026 a0001c0002t0001g0070 a0001c0002t0026g0059 a0001c0008t0027g0081 a0001c0011t0044g0054 a0001c0014t0035g0031 a0001c0022t0014g0066	8	100	0.0800	18	c.100 others(37): Show c.1006-4858_1006-4841dupTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	12/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237481108	A A	ATATGTAT others(11): Show ATATGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02280.hp2 others(6): Show HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG03453.hp2 HG04228.hp2 NA18946.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0005 others(5): Show a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0001c0015 a0001c0016 a0001c0040 a0002c0031	a0001c0003t0002 a0001c0004t0002 a0001c0005t0012 others(6): Show a0001c0003t0002 a0001c0004t0002 a0001c0005t0012 a0001c0010t0004 a0001c0010t0029 a0001c0015t0006 a0001c0016t0033 a0001c0040t0039 a0002c0031t0025	a0001c0003t0002g0065 a0001c0004t0002g0092 a0001c0005t0012g0004 others(6): Show a0001c0003t0002g0065 a0001c0004t0002g0092 a0001c0005t0012g0004 a0001c0010t0004g0097 a0001c0010t0029g0051 a0001c0015t0006g0034 a0001c0016t0033g0024 a0001c0040t0039g0095 a0002c0031t0025g0056	9	100	0.0900	18	c.170 others(39): Show c.1709-10695_1709-10694insGTATATATATATATGTAT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237529760	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01169.hp2 others(1): Show HG01168.hp1 HG01169.hp1 HG01169.hp2 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0001c0023 a0002c0009 others(1): Show a0001c0008 a0001c0023 a0002c0009 a0002c0012	a0001c0008t0027 a0001c0023t0003 a0002c0009t0002 others(1): Show a0001c0008t0027 a0001c0023t0003 a0002c0009t0002 a0002c0012t0002	a0001c0008t0027g0081 a0001c0023t0003g0071 a0002c0009t0002g0079 others(1): Show a0001c0008t0027g0081 a0001c0023t0003g0071 a0002c0009t0002g0079 a0002c0012t0002g0072	4	100	0.0400	18	c.282 others(35): Show c.2823-646_2823-629dupACACACACACACACACAC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	24/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237546976	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp2 HG02523.hp2 others(2): Show HG01081.hp1 HG01109.hp2 HG02523.hp2 HG02572.hp2 NA19066.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0022 a0002c0009 others(1): Show a0001c0002 a0001c0022 a0002c0009 a0003c0006	a0001c0002t0031 a0001c0022t0014 a0002c0009t0004 others(2): Show a0001c0002t0031 a0001c0022t0014 a0002c0009t0004 a0002c0009t0008 a0003c0006t0001	a0001c0002t0031g0033 a0001c0022t0014g0066 a0002c0009t0004g0067 others(2): Show a0001c0002t0031g0033 a0001c0022t0014g0066 a0002c0009t0004g0067 a0002c0009t0008g0040 a0003c0006t0001g0083	5	100	0.0500	18	c.290 others(37): Show c.2907-1452_2907-1435dupATATATATATATATATAT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	25/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237594886	G G	GTTTTTTT others(11): Show GTTTTTTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0016 a0001c0003t0004g0016	1	100	0.0100	18	c.443 others(35): Show c.4437-604_4437-603insGTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	33/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237641481	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp1 HG01169.hp2 others(6): Show HG01109.hp1 HG01168.hp1 HG01169.hp2 HG02055.hp2 HG02257.hp1 HG02486.hp2 HG02559.hp1 HG03669.hp2 NA18747.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0005 a0001c0015 others(4): Show a0001c0001 a0001c0005 a0001c0015 a0002c0009 a0002c0012 a0004c0034 a0006c0020	a0001c0001t0007 a0001c0001t0015 a0001c0005t0006 others(6): Show a0001c0001t0007 a0001c0001t0015 a0001c0005t0006 a0001c0015t0006 a0002c0009t0002 a0002c0012t0002 a0002c0012t0023 a0004c0034t0011 a0006c0020t0001	a0001c0001t0007g0011 a0001c0001t0015g0069 a0001c0005t0006g0029 others(6): Show a0001c0001t0007g0011 a0001c0001t0015g0069 a0001c0005t0006g0029 a0001c0015t0006g0034 a0002c0009t0002g0079 a0002c0012t0002g0072 a0002c0012t0023g0074 a0004c0034t0011g0043 a0006c0020t0001g0015	9	100	0.0900	18	c.722 others(35): Show c.7221+481_7221+498dupTTCTTTCTTTCTTTCTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	47/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237641485	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02523.hp1 HG00741.hp1 HG02523.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0043 a0001c0004 a0003c0043	a0001c0004t0018 a0003c0043t0002 a0001c0004t0018 a0003c0043t0002	a0001c0004t0018g0047 a0003c0043t0002g0068 a0001c0004t0018g0047 a0003c0043t0002g0068	2	100	0.0200	18	c.722 others(35): Show c.7221+485_7221+502dupTTCTTTCTTTCTTTCTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	47/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237798801	C C	CACACACA others(11): Show CACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01981.hp1 HG00408.hp2 HG01981.hp1	a0001 a0001	a0001c0005 a0001c0029 a0001c0005 a0001c0029	a0001c0005t0011 a0001c0029t0008 a0001c0005t0011 a0001c0029t0008	a0001c0005t0011g0061 a0001c0029t0008g0090 a0001c0005t0011g0061 a0001c0029t0008g0090	2	100	0.0200	18	c.140 others(37): Show c.14090+632_14090+633insCACACACACACACACATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	97/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33310452	G G	GACACACA others(11): Show GACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG02055.hp1 HG02280.hp1 others(3): Show HG01261.hp1 HG02055.hp1 HG02280.hp1 HG02738.hp2 NA18522.hp2 NA18950.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0014	a0001c0004 a0001c0083 a0001c0101 others(3): Show a0001c0004 a0001c0083 a0001c0101 a0004c0006 a0005c0008 a0014c0027	a0001c0004t0001 a0001c0083t0001 a0001c0101t0001 others(3): Show a0001c0004t0001 a0001c0083t0001 a0001c0101t0001 a0004c0006t0001 a0005c0008t0001 a0014c0027t0001	a0001c0004t0001g0127 a0001c0083t0001g0143 a0001c0101t0001g0128 others(3): Show a0001c0004t0001g0127 a0001c0083t0001g0143 a0001c0101t0001g0128 a0004c0006t0001g0119 a0005c0008t0001g0124 a0014c0027t0001g0046	6	154	0.0390	18	c.-59 others(27): Show c.-594_-593insACACACACACACACACAC	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding		514		chr15	TogoVar
RYR3_chr15_33305967_33871102	33379687	C C	CTCTCTCT others(11): Show CTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03579.hp1 HG03471.hp2 HG03579.hp1	a0005 a0044 a0005 a0044	a0005c0022 a0044c0074 a0005c0022 a0044c0074	a0005c0022t0002 a0044c0074t0002 a0005c0022t0002 a0044c0074t0002	a0005c0022t0002g0147 a0044c0074t0002g0148 a0005c0022t0002g0147 a0044c0074t0002g0148	2	154	0.0130	18	c.51+ others(35): Show c.51+68592_51+68593insCTCTCTCTATATATATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33432667	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp2 HG03209.hp1 HG02258.hp1 HG02647.hp2 HG03209.hp1	a0026 a0033 a0041 a0026 a0033 a0041	a0026c0117 a0033c0066 a0041c0041 a0026c0117 a0033c0066 a0041c0041	a0026c0117t0002 a0033c0066t0002 a0041c0041t0002 a0026c0117t0002 a0033c0066t0002 a0041c0041t0002	a0026c0117t0002g0123 a0033c0066t0002g0004 a0041c0041t0002g0114 a0026c0117t0002g0123 a0033c0066t0002g0004 a0041c0041t0002g0114	3	154	0.0195	18	c.52- others(35): Show c.52-40752_52-40751insGTGTGTGTGTGTGTGTGT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103			chr15	TogoVar
RYR3_chr15_33305967_33871102	33432668	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02145.hp1 HG02897.hp1 others(2): Show HG01081.hp2 HG02145.hp1 HG02897.hp1 HG06807.hp2 NA18906.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0007 a0048	a0001c0082 a0003c0012 a0005c0032 others(2): Show a0001c0082 a0003c0012 a0005c0032 a0007c0021 a0048c0118	a0001c0082t0002 a0003c0012t0003 a0005c0032t0003 others(2): Show a0001c0082t0002 a0003c0012t0003 a0005c0032t0003 a0007c0021t0001 a0048c0118t0003	a0001c0082t0002g0025 a0003c0012t0003g0064 a0005c0032t0003g0071 others(2): Show a0001c0082t0002g0025 a0003c0012t0003g0064 a0005c0032t0003g0071 a0007c0021t0001g0153 a0048c0118t0003g0048	5	154	0.0325	18	c.52- others(35): Show c.52-40739_52-40722dupGTGTGTGTGTGTGTGTGT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33445664	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0053 a0053	a0053c0067 a0053c0067	a0053c0067t0004 a0053c0067t0004	a0053c0067t0004g0069 a0053c0067t0004g0069	1	154	0.0065	18	c.52- others(35): Show c.52-27722_52-27705dupACACACACACACACACAC	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33460940	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0004 a0004	a0004c0113 a0004c0113	a0004c0113t0001 a0004c0113t0001	a0004c0113t0001g0095 a0004c0113t0001g0095	1	154	0.0065	18	c.52- others(35): Show c.52-12474_52-12457dupTTTTTTTTTTTTTTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33464463	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0037 a0001c0004t0001g0037	1	154	0.0065	18	c.52- others(33): Show c.52-8946_52-8929dupTATATATATATATATATA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33464489	T T	TATATATA others(11): Show TATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0083 a0001c0083	a0001c0083t0001 a0001c0083t0001	a0001c0083t0001g0143 a0001c0083t0001g0143	1	154	0.0065	18	c.52- others(33): Show c.52-8929_52-8928insTATATATATATACACACA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33464499	T T	TATATATA others(11): Show TATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG01081.hp1 others(2): Show HG00323.hp1 HG00408.hp1 HG01081.hp1 HG02040.hp1 HG03688.hp1	a0001 a0004 a0020 others(1): Show a0001 a0004 a0020 a0046	a0001c0004 a0001c0009 a0004c0006 others(2): Show a0001c0004 a0001c0009 a0004c0006 a0020c0105 a0046c0109	a0001c0004t0001 a0001c0009t0002 a0004c0006t0005 others(2): Show a0001c0004t0001 a0001c0009t0002 a0004c0006t0005 a0020c0105t0001 a0046c0109t0005	a0001c0004t0001g0083 a0001c0009t0002g0099 a0004c0006t0005g0098 others(2): Show a0001c0004t0001g0083 a0001c0009t0002g0099 a0004c0006t0005g0098 a0020c0105t0001g0085 a0046c0109t0005g0040	5	154	0.0325	18	c.52- others(33): Show c.52-8915_52-8914insTATATACACATACATATA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33572688	C C	CACACACA others(11): Show CACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0043 a0003c0043	a0003c0043t0001 a0003c0043t0001	a0003c0043t0001g0106 a0003c0043t0001g0106	1	154	0.0065	18	c.126 others(37): Show c.1268+5891_1268+5892insACACACACACACACATAC	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	12/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33664589	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG03579.hp1 HG02109.hp1 HG02145.hp2 HG03579.hp1	a0024 a0025 a0044 a0024 a0025 a0044	a0024c0075 a0025c0036 a0044c0074 a0024c0075 a0025c0036 a0044c0074	a0024c0075t0002 a0025c0036t0010 a0044c0074t0002 a0024c0075t0002 a0025c0036t0010 a0044c0074t0002	a0024c0075t0002g0141 a0025c0036t0010g0088 a0044c0074t0002g0148 a0024c0075t0002g0141 a0025c0036t0010g0088 a0044c0074t0002g0148	3	154	0.0195	18	c.561 others(35): Show c.5619+861_5619+878dupTATATATATATATATATA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	36/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33664589	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp2 HG01106.hp2 others(5): Show HG00140.hp1 HG01070.hp2 HG01106.hp2 HG01243.hp1 NA18950.hp2 NA18981.hp1 NA18981.hp2 NA19064.hp1	a0001 a0008 a0010 others(3): Show a0001 a0008 a0010 a0016 a0018 a0049	a0001c0002 a0001c0003 a0001c0079 others(5): Show a0001c0002 a0001c0003 a0001c0079 a0008c0007 a0010c0017 a0016c0110 a0018c0102 a0049c0111	a0001c0002t0002 a0001c0003t0001 a0001c0079t0006 others(5): Show a0001c0002t0002 a0001c0003t0001 a0001c0079t0006 a0008c0007t0001 a0010c0017t0003 a0016c0110t0003 a0018c0102t0001 a0049c0111t0001	a0001c0002t0002g0102 a0001c0003t0001g0006 a0001c0079t0006g0038 others(5): Show a0001c0002t0002g0102 a0001c0003t0001g0006 a0001c0079t0006g0038 a0008c0007t0001g0097 a0010c0017t0003g0017 a0016c0110t0003g0035 a0018c0102t0001g0078 a0049c0111t0001g0028	8	154	0.0520	18	c.561 others(35): Show c.5619+853_5619+854insGTATATATATATATATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	36/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33664589	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0053 a0053	a0053c0067 a0053c0067	a0053c0067t0004 a0053c0067t0004	a0053c0067t0004g0069 a0053c0067t0004g0069	1	154	0.0065	18	c.561 others(35): Show c.5619+853_5619+854insGTGTATATATATATATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	36/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33664614	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0132 a0001c0009t0002g0132	1	154	0.0065	18	c.561 others(35): Show c.5619+878_5619+879insTATATATATATATATACA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	36/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33705101	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18981.hp1 HG03195.hp1 NA18981.hp1	a0001 a0049 a0001 a0049	a0001c0058 a0049c0111 a0001c0058 a0049c0111	a0001c0058t0002 a0049c0111t0001 a0001c0058t0002 a0049c0111t0001	a0001c0058t0002g0073 a0049c0111t0001g0028 a0001c0058t0002g0073 a0049c0111t0001g0028	2	154	0.0130	18	c.648 others(37): Show c.6484-1801_6484-1784dupTCTCTCTCTCTCTCTCTC	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	42/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33725180	C C	CACACACA others(11): Show CACACACACACACATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0102 a0001c0002t0002g0102	1	154	0.0065	18	c.691 others(37): Show c.6912+1017_6912+1018insTATATACACACACACACA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	45/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789622	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	154	0.0065	18	c.983 others(37): Show c.9830+1165_9830+1166insATATATATATATATATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789624	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18950.hp2 HG03516.hp1 NA18950.hp2	a0001 a0008 a0001 a0008	a0001c0014 a0008c0007 a0001c0014 a0008c0007	a0001c0014t0002 a0008c0007t0001 a0001c0014t0002 a0008c0007t0001	a0001c0014t0002g0015 a0008c0007t0001g0097 a0001c0014t0002g0015 a0008c0007t0001g0097	2	154	0.0130	18	c.983 others(37): Show c.9830+1184_9830+1201dupATATATATATATATATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789658	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0049 a0001c0014t0002g0049	1	154	0.0065	18	c.983 others(37): Show c.9830+1201_9830+1202insATATATATATATATATTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789658	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0119 a0002c0119	a0002c0119t0001 a0002c0119t0001	a0002c0119t0001g0090 a0002c0119t0001g0090	1	154	0.0065	18	c.983 others(37): Show c.9830+1201_9830+1202insATATATATATATATTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789658	A A	ATATATAT others(11): Show ATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0065 a0003c0065	a0003c0065t0002 a0003c0065t0002	a0003c0065t0002g0150 a0003c0065t0002g0150	1	154	0.0065	18	c.983 others(37): Show c.9830+1201_9830+1202insATATATATATTTTTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789986	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0049 a0002c0049	a0002c0049t0003 a0002c0049t0003	a0002c0049t0003g0013 a0002c0049t0003g0013	1	154	0.0065	18	c.983 others(37): Show c.9830+1534_9830+1551dupTTTTTTTTTTTTTTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100B_chr21_46593604_46610082	46603398	T T	TGGGGGGG others(11): Show TGGGGGGGGAGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp2 HG02965.hp2 others(2): Show HG01081.hp1 HG01167.hp2 HG02965.hp2 NA18522.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0048 a0001c0001t0001g0152 a0001c0002t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0152 a0001c0002t0001g0045	5	452	0.0111	18	c.-1- others(31): Show c.-1-983_-1-982insGCCCCCCCCTCCCCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100PBP_chr1_32812653_32863875	32824827	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0279 a0001c0001t0008g0279	1	340	0.0029	18	c.-11 others(35): Show c.-119-484_-119-467dupTATATATATATATATATA	S100PBP	ENSG00000116497.18	transcript	ENST00000373475.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
S1PR1_chr1_101232019_101246518	101232706	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01106.hp1 HG01192.hp2 others(18): Show HG00597.hp2 HG01106.hp1 HG01192.hp2 HG01257.hp2 HG01891.hp2 HG02135.hp2 HG02293.hp2 HG02300.hp1 HG02735.hp1 HG02965.hp1 HG03017.hp2 HG03669.hp1 HG03688.hp2 NA18946.hp1 NA18965.hp2 NA18966.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0002g0005 a0001c0001t0004g0009 a0001c0001t0004g0021 a0001c0001t0004g0023	21	456	0.0461	18	c.-45 others(29): Show c.-4557_-4556insAATAATAATAATAATAAT	S1PR1	ENSG00000170989.10	transcript	ENST00000305352.7	protein_coding		4312		chr1	TogoVar
SAAL1_chr11_18075292_18111082	18076631	A A	AAAAAAGA others(11): Show AAAAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0018 a0004c0004t0001g0018	1	284	0.0035	18	c.37 others(29): Show c.3767_*3768insCTTTCTTTCTTTCTTTTT	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding		3660		chr11	TogoVar
SAAL1_chr11_18075292_18111082	18076631	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0009 a0003c0003t0001g0009	1	284	0.0035	18	c.37 others(29): Show c.3767_*3768insCTTTCTTTCTTTCTTTCT	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding		3660		chr11	TogoVar
SAC3D1_chr11_65036210_65049828	65039029	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03209.hp2 NA18906.hp1 others(1): Show HG03041.hp1 HG03209.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0011 a0001c0002t0001g0012	4	352	0.0114	18	c.-22 others(29): Show c.-2264_-2263insTTTTTTTTTTTTTTTTTT	SAC3D1	ENSG00000168061.17	transcript	ENST00000652489.1	protein_coding		2180		chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686636	A A	AATATATA others(11): Show AATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01928.hp1 HG01934.hp2 others(1): Show HG01123.hp1 HG01928.hp1 HG01934.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0002 a0003c0005t0002 a0001c0002t0002 a0003c0005t0002	a0001c0002t0002g0029 a0001c0002t0002g0115 a0001c0002t0002g0117 others(1): Show a0001c0002t0002g0029 a0001c0002t0002g0115 a0001c0002t0002g0117 a0003c0005t0002g0013	4	354	0.0113	18	c.-28 others(29): Show c.-2830_-2829insATATATATATATATATAT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2759		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(11): Show ATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0112 a0001c0002t0002g0113	2	354	0.0057	18	c.-28 others(29): Show c.-2803_-2802insTATATATATATATATATT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(11): Show ATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0122 a0001c0002t0002g0122	1	354	0.0028	18	c.-28 others(29): Show c.-2803_-2802insTATATATATATATATTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	354	0.0028	18	c.-28 others(29): Show c.-2803_-2802insTATATATATTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(11): Show ATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0042 a0001c0002t0002g0042	1	354	0.0028	18	c.-28 others(29): Show c.-2803_-2802insTATATATTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45748591	A A	AATATATA others(11): Show AATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01978.hp2 HG02004.hp2 others(5): Show HG01928.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02165.hp1 HG03710.hp1 NA18970.hp1 NA19007.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0038 a0002c0001t0001g0184 others(4): Show a0002c0001t0001g0001 a0002c0001t0001g0038 a0002c0001t0001g0184 a0002c0001t0001g0200 a0002c0001t0001g0214 a0002c0001t0001g0225 a0002c0001t0001g0253	8	354	0.0226	18	c.49 others(29): Show c.4922_*4923insATATATATATATATATAT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		3183		chr3	TogoVar
SACS_chr13_23323830_23438702	23353020	G G	GGACAAAC others(11): Show GGACAAACCCAGAACTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01192.hp2 HG01175.hp1 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0020 a0001c0003t0001g0031 a0001c0003t0001g0020 a0001c0003t0001g0031	2	378	0.0053	18	c.218 others(35): Show c.2185+764_2185+765insAAAAGTTCTGGGTTTGTC	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	9/9			chr13	TogoVar
SACS_chr13_23323830_23438702	23380122	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0052 a0004c0007t0004g0052	1	378	0.0027	18	c.21- others(33): Show c.21-4871_21-4854dupACACACACACACACACAC	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SACS_chr13_23323830_23438702	23399019	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02148.hp2 HG03831.hp2 others(4): Show HG00621.hp2 HG02148.hp2 HG03831.hp2 NA18944.hp1 NA18954.hp2 NA18966.hp2 NA18975.hp2	a0002 a0037 a0002 a0037	a0002c0001 a0037c0056 a0002c0001 a0037c0056	a0002c0001t0001 a0002c0001t0003 a0037c0056t0001 a0002c0001t0001 a0002c0001t0003 a0037c0056t0001	a0002c0001t0001g0133 a0002c0001t0001g0270 a0002c0001t0001g0272 others(4): Show a0002c0001t0001g0133 a0002c0001t0001g0270 a0002c0001t0001g0272 a0002c0001t0001g0290 a0002c0001t0001g0300 a0002c0001t0003g0299 a0037c0056t0001g0284	7	378	0.0185	18	c.20+ others(35): Show c.20+12183_20+12200dupTTTTTTTTTTTTTTTTTT	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SACS_chr13_23323830_23438702	23409040	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03139.hp1 NA20300.hp2 HG01167.hp2 HG03139.hp1 NA20300.hp2	a0007 a0025 a0042 a0007 a0025 a0042	a0007c0015 a0025c0037 a0042c0036 a0007c0015 a0025c0037 a0042c0036	a0007c0015t0001 a0025c0037t0001 a0042c0036t0003 a0007c0015t0001 a0025c0037t0001 a0042c0036t0003	a0007c0015t0001g0317 a0025c0037t0001g0030 a0042c0036t0003g0145 a0007c0015t0001g0317 a0025c0037t0001g0030 a0042c0036t0003g0145	3	378	0.0079	18	c.20+ others(33): Show c.20+2162_20+2179dupAAAAAAAAAAAAAAAAAA	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar

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