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	237208936	G G	GTGTGTGT others(17): Show GTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0017 a0001c0042t0017	a0001c0042t0017g0050 a0001c0042t0017g0050	1	100	0.0100	24	c.49- others(41): Show c.49-61560_49-61559insGTGTGTATATATATATATATATAT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237209497	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0035 a0001c0014t0035	a0001c0014t0035g0031 a0001c0014t0035g0031	1	100	0.0100	24	c.49- others(41): Show c.49-60983_49-60982insGTGTGTGTGTGTGTGTGTGTGTGT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237346367	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0018 a0001c0003t0005g0018	1	100	0.0100	24	c.274 others(41): Show c.274-9581_274-9580insAAAAAAAAAAAAAAAAAAAAAAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237408392	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0033 a0001c0002t0031g0033	1	100	0.0100	24	c.774 others(41): Show c.774-8643_774-8642insTATATATATATATATATATATATA	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(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0047 a0001c0004t0018g0047	1	100	0.0100	24	c.100 others(43): Show c.1006-4864_1006-4841dupTTTTTTTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	12/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237473427	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0039 a0001c0040t0039	a0001c0040t0039g0095 a0001c0040t0039g0095	1	100	0.0100	24	c.170 others(43): Show c.1708+4243_1708+4244insTTCTTTCTTTCTTTCTTTCTTTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237473431	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03098.hp1 HG03453.hp2 others(1): Show HG01243.hp2 HG03098.hp1 HG03453.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0014 others(1): Show a0001c0002 a0001c0011 a0001c0014 a0001c0016	a0001c0002t0001 a0001c0011t0044 a0001c0014t0035 others(1): Show a0001c0002t0001 a0001c0011t0044 a0001c0014t0035 a0001c0016t0033	a0001c0002t0001g0070 a0001c0011t0044g0054 a0001c0014t0035g0031 others(1): Show a0001c0002t0001g0070 a0001c0011t0044g0054 a0001c0014t0035g0031 a0001c0016t0033g0024	4	100	0.0400	24	c.170 others(43): Show c.1708+4252_1708+4275dupTTCTTTCTTTCTTTCTTTCTTTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237481108	A A	ATATGTAT others(17): Show ATATGTATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0009 a0001c0049t0009	a0001c0049t0009g0044 a0001c0049t0009g0044	1	100	0.0100	24	c.170 others(45): Show c.1709-10695_1709-10694insGTATATATATATATATATATGTAT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237492824	A A	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0003 a0001c0036t0003	a0001c0036t0003g0038 a0001c0036t0003g0038	1	100	0.0100	24	c.182 others(40): Show c.1828-106_1828-83dupGAAGGAAGGAAGGAAGGAAGGAAG	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	18/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237546976	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02523.hp1 HG01099.hp1 HG02523.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0021 a0001c0004 a0003c0021	a0001c0004t0018 a0003c0021t0001 a0001c0004t0018 a0003c0021t0001	a0001c0004t0018g0047 a0003c0021t0001g0019 a0001c0004t0018g0047 a0003c0021t0001g0019	2	100	0.0200	24	c.290 others(43): Show c.2907-1435_2907-1434insATATATATATATATATATATATAT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	25/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237623355	C C	CTTTGTTT others(17): Show CTTTGTTTCTTTCTTTCTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02293.hp2 HG00408.hp1 HG02293.hp2	a0001 a0001	a0001c0004 a0001c0036 a0001c0004 a0001c0036	a0001c0004t0020 a0001c0036t0003 a0001c0004t0020 a0001c0036t0003	a0001c0004t0020g0093 a0001c0036t0003g0038 a0001c0004t0020g0093 a0001c0036t0003g0038	2	100	0.0200	24	c.591 others(41): Show c.5917-391_5917-390insGTTTGTTTGTTTCTTTCTTTCTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	38/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237623359	G G	GTTTCTTT others(17): Show GTTTCTTTCTTTCTTTCTTTGTTTC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0094 a0003c0006t0002g0094	1	100	0.0100	24	c.591 others(41): Show c.5917-387_5917-386insGTTTCTTTCTTTCTTTCTTTCTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	38/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237623359	G G	GTTTCTTT others(17): Show GTTTCTTTCTTTCTTTGTTTGTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG01099.hp1 others(14): Show HG00280.hp1 HG00280.hp2 HG01099.hp1 HG01099.hp2 HG01168.hp2 HG01175.hp1 HG01256.hp2 HG01261.hp1 HG01361.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp1 HG02293.hp1 HG03017.hp2 NA18962.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0029 a0001c0042 a0001c0044 a0001c0047 a0003c0013 a0003c0021	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0004t0030 a0001c0029t0008 a0001c0042t0017 a0001c0044t0002 a0001c0047t0002 a0003c0013t0003 a0003c0021t0001	a0001c0001t0001g0012 a0001c0001t0003g0100 a0001c0002t0001g0075 others(14): Show a0001c0001t0001g0012 a0001c0001t0003g0100 a0001c0002t0001g0075 a0001c0002t0002g0022 a0001c0002t0009g0021 a0001c0003t0001g0078 a0001c0003t0002g0087 a0001c0003t0003g0084 a0001c0003t0004g0060 a0001c0003t0005g0018 a0001c0004t0030g0005 a0001c0029t0008g0090 a0001c0042t0017g0050 a0001c0044t0002g0014 a0001c0047t0002g0077 a0003c0013t0003g0086 a0003c0021t0001g0019	17	100	0.1700	24	c.591 others(41): Show c.5917-391_5917-390insGTTTGTTTCTTTCTTTCTTTCTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	38/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237631613	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0009 a0001c0049t0009	a0001c0049t0009g0044 a0001c0049t0009g0044	1	100	0.0100	24	c.655 others(40): Show c.6555+81_6555+104dupTTTTTTTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	42/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33310452	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	154	0.0065	24	c.-59 others(33): Show c.-594_-593insACACACACACACACACACACACAC	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding		514		chr15	TogoVar
RYR3_chr15_33305967_33871102	33379687	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0011 a0011	a0011c0123 a0011c0123	a0011c0123t0002 a0011c0123t0002	a0011c0123t0002g0055 a0011c0123t0002g0055	1	154	0.0065	24	c.51+ others(41): Show c.51+68592_51+68593insCTCTCTCTCTCTATATATATATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33379687	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0011 a0011	a0011c0086 a0011c0086	a0011c0086t0002 a0011c0086t0002	a0011c0086t0002g0110 a0011c0086t0002g0110	1	154	0.0065	24	c.51+ others(41): Show c.51+68592_51+68593insCTCTCTCTCTCTCTATATATATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33432668	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0005 a0005	a0005c0030 a0005c0030	a0005c0030t0001 a0005c0030t0001	a0005c0030t0001g0007 a0005c0030t0001g0007	1	154	0.0065	24	c.52- others(41): Show c.52-40745_52-40722dupGTGTGTGTGTGTGTGTGTGTGTGT	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(17): Show TATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA20300.hp2 HG02723.hp2 NA20300.hp2	a0003 a0003	a0003c0043 a0003c0107 a0003c0043 a0003c0107	a0003c0043t0001 a0003c0107t0002 a0003c0043t0001 a0003c0107t0002	a0003c0043t0001g0106 a0003c0107t0002g0080 a0003c0043t0001g0106 a0003c0107t0002g0080	2	154	0.0130	24	c.52- others(39): Show c.52-8929_52-8928insTATATATATATATATACACACACA	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(17): Show TATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0093 a0002c0093	a0002c0093t0004 a0002c0093t0004	a0002c0093t0004g0050 a0002c0093t0004g0050	1	154	0.0065	24	c.52- others(39): Show c.52-8929_52-8928insTATATATATATATATATACACACA	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(17): Show TATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18964.hp2 NA19030.hp1 HG02109.hp2 NA18964.hp2 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0013 a0005c0008 a0005c0040 a0001c0013 a0005c0008 a0005c0040	a0001c0013t0005 a0005c0008t0001 a0005c0040t0013 a0001c0013t0005 a0005c0008t0001 a0005c0040t0013	a0001c0013t0005g0084 a0005c0008t0001g0019 a0005c0040t0013g0145 a0001c0013t0005g0084 a0005c0008t0001g0019 a0005c0040t0013g0145	3	154	0.0195	24	c.52- others(39): Show c.52-8915_52-8914insTATATATATATACACATACATATA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33664589	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02897.hp1 HG01109.hp2 HG02897.hp1	a0007 a0021 a0007 a0021	a0007c0021 a0021c0117 a0007c0021 a0021c0117	a0007c0021t0001 a0021c0117t0004 a0007c0021t0001 a0021c0117t0004	a0007c0021t0001g0153 a0021c0117t0004g0122 a0007c0021t0001g0153 a0021c0117t0004g0122	2	154	0.0130	24	c.561 others(41): Show c.5619+855_5619+878dupTATATATATATATATATATATATA	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(17): Show GTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0009 a0009	a0009c0055 a0009c0055	a0009c0055t0005 a0009c0055t0005	a0009c0055t0005g0061 a0009c0055t0005g0061	1	154	0.0065	24	c.561 others(41): Show c.5619+853_5619+854insGTGTATATATATATATATATATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	36/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33664589	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0026 a0026	a0026c0118 a0026c0118	a0026c0118t0002 a0026c0118t0002	a0026c0118t0002g0123 a0026c0118t0002g0123	1	154	0.0065	24	c.561 others(41): Show c.5619+853_5619+854insGTGTGTGTGTATATATATATATAT	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(17): Show TATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0098 a0001c0098	a0001c0098t0001 a0001c0098t0001	a0001c0098t0001g0151 a0001c0098t0001g0151	1	154	0.0065	24	c.561 others(41): Show c.5619+878_5619+879insTATATATATATATATATATACACA	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(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp1 NA19009.hp2 HG00735.hp2 HG01496.hp1 NA19009.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0089 a0006c0061 a0001c0001 a0002c0089 a0006c0061	a0001c0001t0001 a0002c0089t0008 a0006c0061t0001 a0001c0001t0001 a0002c0089t0008 a0006c0061t0001	a0001c0001t0001g0044 a0002c0089t0008g0130 a0006c0061t0001g0022 a0001c0001t0001g0044 a0002c0089t0008g0130 a0006c0061t0001g0022	3	154	0.0195	24	c.561 others(41): Show c.5619+878_5619+879insTATATATATATATATATATATACA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	36/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33725180	C C	CACACACA others(17): Show CACACACACACACACACACATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01071.hp1 HG02071.hp1 others(3): Show HG00408.hp2 HG01071.hp1 HG02071.hp1 HG02155.hp1 NA18959.hp2 NA19067.hp2	a0001 a0004 a0019 a0001 a0004 a0019	a0001c0002 a0004c0016 a0004c0114 others(1): Show a0001c0002 a0004c0016 a0004c0114 a0019c0031	a0001c0002t0001 a0001c0002t0007 a0004c0016t0007 others(2): Show a0001c0002t0001 a0001c0002t0007 a0004c0016t0007 a0004c0114t0001 a0019c0031t0003	a0001c0002t0001g0018 a0001c0002t0001g0043 a0001c0002t0007g0146 others(3): Show a0001c0002t0001g0018 a0001c0002t0001g0043 a0001c0002t0007g0146 a0004c0016t0007g0116 a0004c0114t0001g0095 a0019c0031t0003g0092	6	154	0.0390	24	c.691 others(43): Show c.6912+1023_6912+1024insTATATACACACACACACACACACA	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(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0119 a0004c0006t0001g0119	1	154	0.0065	24	c.983 others(43): Show c.9830+1165_9830+1166insATATATATATATATATATATATAT	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(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0080 a0002c0080	a0002c0080t0002 a0002c0080t0002	a0002c0080t0002g0060 a0002c0080t0002g0060	1	154	0.0065	24	c.983 others(43): Show c.9830+1201_9830+1202insATATATATATATATATATATATTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33822017	C C	CCATTCAT others(17): Show CCATTCATTCATTCATTCATTCATT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02258.hp1 HG02559.hp2 others(9): Show HG01071.hp1 HG02258.hp1 HG02559.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG03017.hp1 HG03130.hp2 HG03209.hp2 HG03516.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0011 a0019 a0026 a0033	a0001c0010 a0001c0046 a0001c0047 others(8): Show a0001c0010 a0001c0046 a0001c0047 a0001c0096 a0002c0088 a0003c0085 a0006c0048 a0011c0086 a0019c0031 a0026c0118 a0033c0066	a0001c0010t0001 a0001c0046t0011 a0001c0047t0001 others(8): Show a0001c0010t0001 a0001c0046t0011 a0001c0047t0001 a0001c0096t0001 a0002c0088t0002 a0003c0085t0002 a0006c0048t0004 a0011c0086t0002 a0019c0031t0003 a0026c0118t0002 a0033c0066t0002	a0001c0010t0001g0051 a0001c0010t0001g0142 a0001c0046t0011g0065 others(9): Show a0001c0010t0001g0051 a0001c0010t0001g0142 a0001c0046t0011g0065 a0001c0047t0001g0135 a0001c0096t0001g0120 a0002c0088t0002g0072 a0003c0085t0002g0057 a0006c0048t0004g0002 a0011c0086t0002g0110 a0019c0031t0003g0092 a0026c0118t0002g0123 a0033c0066t0002g0004	12	154	0.0779	24	c.109 others(43): Show c.10995+431_10995+432insCATTCATTCATTCATTCATTCATT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	80/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100PBP_chr1_32812653_32863875	32824827	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02055.hp1 HG02109.hp1 others(2): Show HG01069.hp1 HG02055.hp1 HG02109.hp1 HG02257.hp1 HG02970.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0029 a0003c0003t0003 a0001c0001t0003 a0001c0001t0029 a0003c0003t0003	a0001c0001t0003g0022 a0001c0001t0003g0296 a0001c0001t0029g0297 others(1): Show a0001c0001t0003g0022 a0001c0001t0003g0296 a0001c0001t0029g0297 a0003c0003t0003g0275	5	340	0.0147	24	c.-11 others(41): Show c.-119-467_-119-466insTATATATATATATATATATATATA	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(17): Show AAATAATAATAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	456	0.0022	24	c.-45 others(35): Show c.-4557_-4556insAATAATAATAATAATAATAATAAT	S1PR1	ENSG00000170989.10	transcript	ENST00000305352.7	protein_coding		4312		chr1	TogoVar
SAA2_chr11_18240240_18253668	18251939	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 NA18965.hp1 NA19078.hp1 HG03654.hp1 NA18965.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0061 a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0061	3	474	0.0063	24	c.-33 others(35): Show c.-3342_-3341insGGAAGGAAGGAAGGAAGGAAGGAA	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3272		chr11	TogoVar
SAA2_chr11_18240240_18253668	18251974	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTCCTTCCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01081.hp2 NA18948.hp1 others(2): Show HG00741.hp2 HG01081.hp2 NA18948.hp1 NA18982.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0082	5	474	0.0106	24	c.-33 others(35): Show c.-3377_-3376insAAAGGAAGGAAGGAAGGAAGGAAG	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3307		chr11	TogoVar
SAA2_chr11_18240240_18253668	18251974	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTCCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	474	0.0021	24	c.-33 others(35): Show c.-3377_-3376insAAAGAAAGGAAGGAAGGAAGGAAG	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3307		chr11	TogoVar
SAA2_chr11_18240240_18253668	18251974	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG02071.hp1 NA19079.hp1 HG01106.hp2 HG02071.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	3	474	0.0063	24	c.-33 others(35): Show c.-3377_-3376insAAAGAAAGAAAGGAAGGAAGGAAG	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3307		chr11	TogoVar
SAC3D1_chr11_65036210_65049828	65039029	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00642.hp2 HG01361.hp1 others(15): Show HG00423.hp2 HG00642.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG02109.hp1 HG02135.hp2 HG02257.hp2 HG02683.hp2 HG02895.hp2 HG03209.hp1 NA18981.hp1 NA18982.hp1 NA18999.hp1 NA19002.hp2 NA19060.hp2 NA19066.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0002 a0005c0008 a0009c0009 a0001c0002 a0005c0008 a0009c0009	a0001c0002t0001 a0005c0008t0001 a0009c0009t0001 a0001c0002t0001 a0005c0008t0001 a0009c0009t0001	a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0015 others(3): Show a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0015 a0001c0002t0001g0046 a0005c0008t0001g0002 a0009c0009t0001g0004	18	352	0.0511	24	c.-22 others(35): Show c.-2264_-2263insTTTTTTTTTTTTTTTTTTTTTTTT	SAC3D1	ENSG00000168061.17	transcript	ENST00000652489.1	protein_coding		2180		chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01256.hp2 HG02300.hp1 HG01081.hp1 HG01256.hp2 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0015 a0001c0002t0002g0127 a0001c0002t0002g0008 a0001c0002t0002g0015 a0001c0002t0002g0127	3	354	0.0085	24	c.-28 others(35): Show c.-2803_-2802insTATATATATATATATATATATTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18994.hp2 NA19079.hp1 NA18957.hp1 NA18994.hp2 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0017 a0001c0002t0005g0170 a0001c0002t0005g0017 a0001c0002t0005g0170	3	354	0.0085	24	c.-28 others(35): Show c.-2803_-2802insTATATATATATATATATATTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01261.hp1 HG01192.hp2 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0121 a0001c0002t0002g0130 a0001c0002t0002g0121 a0001c0002t0002g0130	2	354	0.0057	24	c.-28 others(35): Show c.-2803_-2802insTATATATATATATATATTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(17): Show ATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG03225.hp2 HG02970.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0004 a0001c0004t0002 a0001c0002t0004 a0001c0004t0002	a0001c0002t0004g0033 a0001c0004t0002g0176 a0001c0002t0004g0033 a0001c0004t0002g0176	2	354	0.0057	24	c.-28 others(35): Show c.-2803_-2802insTATATATATATATATTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(17): Show ATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0034 a0001c0002t0004g0034	1	354	0.0028	24	c.-28 others(35): Show c.-2803_-2802insTATATATATATTTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACS_chr13_23323830_23438702	23399019	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0357 a0001c0002t0024g0357	1	378	0.0027	24	c.20+ others(41): Show c.20+12200_20+12201insTTTTTTTTTTTTTTTTTTTTTTTT	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SAGSIN1_chr7_6324411_6353967	6347883	T T	TTTATTAT others(17): Show TTTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0409 a0001c0001t0001g0409	1	420	0.0024	24	c.186 others(39): Show c.186+666_186+689dupTAATAATAATAATAATAATAATAA	SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding	1/1			chr7	TogoVar
SAMD10_chr20_63969116_63984642	63976764	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0041 a0001c0002t0004g0041	1	342	0.0029	24	c.445 others(39): Show c.445+183_445+206dupTTTTTTTTTTTTTTTTTTTTTTTT	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding	3/4			chr20	TogoVar
SAMD14_chr17_50105040_50135160	50124771	G G	GCACGCGC others(17): Show GCACGCGCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18977.hp2 NA18947.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0140 a0001c0001t0005g0141 a0001c0001t0003g0140 a0001c0001t0005g0141	2	398	0.0050	24	c.43+ others(37): Show c.43+145_43+146insTGTGTGTGTGTGTGCGCGCGCGTG	SAMD14	ENSG00000167100.15	transcript	ENST00000330175.9	protein_coding	2/9			chr17	TogoVar
SAMD14_chr17_50105040_50135160	50124771	G G	GCACGCGC others(17): Show GCACGCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	398	0.0025	24	c.43+ others(37): Show c.43+145_43+146insTGTGTGTGTGTGCGCGCGCGCGTG	SAMD14	ENSG00000167100.15	transcript	ENST00000330175.9	protein_coding	2/9			chr17	TogoVar
SAMD3_chr6_130139315_130227951	130153647	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01070.hp2 HG01071.hp1 others(21): Show HG00438.hp2 HG01070.hp2 HG01071.hp1 HG01981.hp1 HG02109.hp2 HG02683.hp2 HG03490.hp1 HG03492.hp2 HG03688.hp1 HG04199.hp2 NA18747.hp2 NA18939.hp2 NA18946.hp2 NA18960.hp1 NA18965.hp1 NA18968.hp1 NA18971.hp1 NA18990.hp1 NA19001.hp1 NA19065.hp2 NA19067.hp2 NA19085.hp2 NA19086.hp1 NA19089.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0007 a0001c0001 a0009c0007	a0001c0001t0001 a0001c0001t0002 a0009c0007t0001 a0001c0001t0001 a0001c0001t0002 a0009c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0039 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0129 a0001c0001t0001g0147 a0001c0001t0001g0155 a0001c0001t0001g0172 a0001c0001t0001g0185 a0001c0001t0001g0205 a0001c0001t0001g0215 a0001c0001t0001g0224 a0001c0001t0001g0267 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0316 a0001c0001t0002g0095 a0009c0007t0001g0149	24	338	0.0710	24	c.102 others(43): Show c.1023+1177_1023+1178insATATATATATATATATATATATAT	SAMD3	ENSG00000164483.17	transcript	ENST00000439090.7	protein_coding	9/11			chr6	TogoVar
SAMD4A_chr14_54562128_54798312	54724003	T T	TGGAAGGA others(17): Show TGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0079 a0001c0001t0004g0079	1	262	0.0038	24	c.716 others(43): Show c.716-13018_716-13017insAGGAAGGAAGGAAGGAAGGAAGGA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54724007	T T	TGGAAGGA others(17): Show TGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02155.hp1 HG02257.hp2 others(5): Show HG00597.hp2 HG02155.hp1 HG02257.hp2 HG03453.hp2 HG04199.hp1 NA18940.hp2 NA18998.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0038 a0001c0006t0004	a0001c0001t0001g0008 a0001c0001t0001g0109 a0001c0001t0002g0248 others(5): Show a0001c0001t0001g0008 a0001c0001t0001g0109 a0001c0001t0002g0248 a0001c0001t0004g0051 a0001c0001t0004g0053 a0001c0001t0004g0095 a0001c0001t0038g0068 a0001c0006t0004g0024	8	262	0.0305	24	c.716 others(43): Show c.716-12996_716-12973dupGGAAGGAAGGAAGGAAGGAAGGAA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar

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