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
RYR3_chr15_33305967_33871102	33464489	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0036 a0036	a0036c0064 a0036c0064	a0036c0064t0003 a0036c0064t0003	a0036c0064t0003g0052 a0036c0064t0003g0052	1	154	0.0065	26	c.52- others(41): Show c.52-8929_52-8928insTATATATATATATATATATACACACA	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(19): Show TATATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	154	0.0065	26	c.52- others(41): Show c.52-8915_52-8914insTATATATATATATACACATACATATA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33664587	G G	GTATGTAT others(19): Show GTATGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0122 a0003c0122	a0003c0122t0008 a0003c0122t0008	a0003c0122t0008g0062 a0003c0122t0008g0062	1	154	0.0065	26	c.561 others(43): Show c.5619+851_5619+852insATGTATATATATATATATATATATAT	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(19): Show GTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0046 a0046	a0046c0110 a0046c0110	a0046c0110t0005 a0046c0110t0005	a0046c0110t0005g0040 a0046c0110t0005g0040	1	154	0.0065	26	c.561 others(43): Show c.5619+853_5619+854insGTGTGTGTGTATATATATATATATAT	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(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0005 a0005	a0005c0030 a0005c0030	a0005c0030t0001 a0005c0030t0001	a0005c0030t0001g0007 a0005c0030t0001g0007	1	154	0.0065	26	c.561 others(43): Show c.5619+878_5619+879insTATATATATATATATATATATATACA	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(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0027 a0027	a0027c0125 a0027c0125	a0027c0125t0001 a0027c0125t0001	a0027c0125t0001g0059 a0027c0125t0001g0059	1	154	0.0065	26	c.648 others(45): Show c.6484-1809_6484-1784dupTCTCTCTCTCTCTCTCTCTCTCTCTC	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(19): Show CACACACACACACACACACACATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02486.hp2 HG02738.hp2 others(6): Show HG01081.hp1 HG02486.hp2 HG02738.hp2 NA18964.hp1 NA18964.hp2 NA18983.hp1 NA19005.hp1 NA19056.hp2 NA19067.hp1	a0001 a0004 a0008 others(2): Show a0001 a0004 a0008 a0020 a0030	a0001c0001 a0001c0003 a0001c0013 others(5): Show a0001c0001 a0001c0003 a0001c0013 a0001c0101 a0004c0016 a0008c0018 a0020c0106 a0030c0100	a0001c0001t0005 a0001c0003t0002 a0001c0013t0001 others(6): Show a0001c0001t0005 a0001c0003t0002 a0001c0013t0001 a0001c0013t0005 a0001c0101t0001 a0004c0016t0002 a0008c0018t0003 a0020c0106t0001 a0030c0100t0001	a0001c0001t0005g0008 a0001c0003t0002g0036 a0001c0013t0001g0026 others(6): Show a0001c0001t0005g0008 a0001c0003t0002g0036 a0001c0013t0001g0026 a0001c0013t0005g0084 a0001c0101t0001g0128 a0004c0016t0002g0103 a0008c0018t0003g0034 a0020c0106t0001g0085 a0030c0100t0001g0021	9	154	0.0584	26	c.691 others(45): Show c.6912+1025_6912+1026insTATATACACACACACACACACACACA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	45/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(19): Show AGGGGGTGGGGGGAGGGGGGGCGGGGG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18973.hp2 NA18951.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0145 a0001c0001t0001g0059 a0001c0001t0001g0145	2	452	0.0044	26	c.-1- others(39): Show c.-1-977_-1-976insCCCCCGCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(19): Show AGGGGGTGGGGGGAGGGGGGGGGCGGG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	452	0.0022	26	c.-1- others(39): Show c.-1-977_-1-976insCCCGCCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(19): Show AGGGGGTGGGGGGTGGGGGGGGCGGGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01106.hp1 HG02735.hp1 HG00733.hp1 HG01106.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0119 a0001c0002t0001g0129 a0001c0002t0002g0118 a0001c0002t0001g0119 a0001c0002t0001g0129 a0001c0002t0002g0118	3	452	0.0066	26	c.-1- others(39): Show c.-1-977_-1-976insCCCCGCCCCCCCCACCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100PBP_chr1_32812653_32863875	32824827	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03209.hp1 NA18522.hp1 HG02647.hp2 HG03209.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0263 a0001c0001t0003g0276 a0001c0001t0008g0286 a0001c0001t0003g0263 a0001c0001t0003g0276 a0001c0001t0008g0286	3	340	0.0088	26	c.-11 others(43): Show c.-119-467_-119-466insTATATATATATATATATATATATATA	S100PBP	ENSG00000116497.18	transcript	ENST00000373475.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
S100P_chr4_6688878_6702170	6692105	G G	GTGTGTAT others(19): Show GTGTGTATATATGTGTGTATACATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	482	0.0021	26	c.-18 others(37): Show c.-1828_-1827insTGTGTATATATGTGTGTATACATATA	S100P	ENSG00000163993.7	transcript	ENST00000296370.4	protein_coding		1772		chr4	TogoVar
SAC3D1_chr11_65036210_65049828	65039029	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02004.hp2 HG01081.hp1 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	352	0.0057	26	c.-22 others(37): Show c.-2264_-2263insTTTTTTTTTTTTTTTTTTTTTTTTTT	SAC3D1	ENSG00000168061.17	transcript	ENST00000652489.1	protein_coding		2180		chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686636	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0029 a0001c0002t0002g0029	1	354	0.0028	26	c.-28 others(37): Show c.-2830_-2829insATATATATATATATATATATATATAT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2759		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0104 a0002c0001t0001g0104	1	354	0.0028	26	c.-28 others(37): Show c.-2803_-2802insTATATATATATATATATATATTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG03669.hp2 HG01346.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0014 a0001c0002t0002g0009 a0001c0002t0002g0014	2	354	0.0057	26	c.-28 others(37): Show c.-2803_-2802insTATATATATATATATATATTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(19): Show ATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG03130.hp2 NA19000.hp2 HG02647.hp1 HG03130.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0139 a0001c0002t0002g0142 a0001c0002t0002g0144 a0001c0002t0002g0139 a0001c0002t0002g0142 a0001c0002t0002g0144	3	354	0.0085	26	c.-28 others(37): Show c.-2803_-2802insTATATATATATATATTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45748591	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0247 a0002c0001t0001g0247	1	354	0.0028	26	c.49 others(37): Show c.4922_*4923insATATATATATATATATATATATATAT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		3183		chr3	TogoVar
SACS_chr13_23323830_23438702	23399019	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02897.hp1 HG03041.hp2 others(2): Show HG02615.hp2 HG02897.hp1 HG03041.hp2 NA18967.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 a0001c0002 a0001c0003 a0001c0006	a0001c0002t0003 a0001c0003t0001 a0001c0006t0001 a0001c0002t0003 a0001c0003t0001 a0001c0006t0001	a0001c0002t0003g0025 a0001c0002t0003g0069 a0001c0003t0001g0035 others(2): Show a0001c0002t0003g0025 a0001c0002t0003g0069 a0001c0003t0001g0035 a0001c0006t0001g0203 a0001c0006t0001g0274	5	378	0.0132	26	c.20+ others(43): Show c.20+12200_20+12201insTTTTTTTTTTTTTTTTTTTTTTTTTT	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SACS_chr13_23323830_23438702	23408948	C C	CAAGACTC others(19): Show CAAGACTCCGTCTCAAAAAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG01081.hp2 others(31): Show HG00099.hp1 HG00609.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01346.hp1 HG01515.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02165.hp1 HG02735.hp1 HG02735.hp2 HG03239.hp2 HG03704.hp1 HG04199.hp1 NA18939.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18953.hp2 NA18959.hp1 NA18964.hp1 NA18970.hp2 NA18971.hp1 NA19064.hp2 NA19070.hp2 NA19082.hp2 NA19085.hp2 NA19091.hp1 NA20752.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0016 a0033 a0036	a0001c0006 a0002c0001 a0003c0005 others(6): Show a0001c0006 a0002c0001 a0003c0005 a0003c0012 a0004c0007 a0007c0015 a0016c0027 a0033c0062 a0036c0026	a0001c0006t0001 a0002c0001t0001 a0002c0001t0008 others(9): Show a0001c0006t0001 a0002c0001t0001 a0002c0001t0008 a0003c0005t0001 a0003c0005t0004 a0003c0005t0008 a0003c0012t0004 a0004c0007t0001 a0007c0015t0001 a0016c0027t0001 a0033c0062t0001 a0036c0026t0004	a0001c0006t0001g0236 a0002c0001t0001g0250 a0002c0001t0008g0009 others(31): Show a0001c0006t0001g0236 a0002c0001t0001g0250 a0002c0001t0008g0009 a0003c0005t0001g0032 a0003c0005t0001g0155 a0003c0005t0001g0199 a0003c0005t0001g0209 a0003c0005t0001g0211 a0003c0005t0001g0213 a0003c0005t0001g0228 a0003c0005t0001g0234 a0003c0005t0001g0238 a0003c0005t0001g0251 a0003c0005t0001g0301 a0003c0005t0001g0312 a0003c0005t0001g0354 a0003c0005t0001g0358 a0003c0005t0004g0150 a0003c0005t0004g0240 a0003c0005t0004g0347 a0003c0005t0008g0008 a0003c0012t0004g0179 a0004c0007t0001g0037 a0004c0007t0001g0105 a0004c0007t0001g0108 a0004c0007t0001g0109 a0004c0007t0001g0159 a0004c0007t0001g0188 a0004c0007t0001g0195 a0004c0007t0001g0200 a0007c0015t0001g0111 a0016c0027t0001g0215 a0033c0062t0001g0231 a0036c0026t0004g0151	34	378	0.0900	26	c.20+ others(41): Show c.20+2246_20+2271dupTTTTATTTTTTTTGAGACGGAGTCTT	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SAE1_chr19_47125835_47215636	47182496	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	380	0.0026	26	c.733 others(45): Show c.733+12574_733+12575insTGTGTGTGTGTGTGTGTGCGCGCGCG	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SAE1_chr19_47125835_47215636	47201360	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	380	0.0026	26	c.879 others(43): Show c.879-2307_879-2282dupTTTTTTTTTTTTTTTTTTTTTTTTTT	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SAMD10_chr20_63969116_63984642	63970946	C C	CCTTTTCT others(19): Show CCTTTTCTCTTTCCTTCCTTCTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	342	0.0029	26	c.45 others(37): Show c.4563_*4564insAGAAGAGAAGGAAGGAAAGAGAAAAG	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		3169		chr20	TogoVar
SAMD10_chr20_63969116_63984642	63976764	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0038 a0001c0002t0006g0038	1	342	0.0029	26	c.445 others(41): Show c.445+181_445+206dupTTTTTTTTTTTTTTTTTTTTTTTTTT	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding	3/4			chr20	TogoVar
SAMD3_chr6_130139315_130227951	130153647	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp1 HG01109.hp1 others(8): Show HG00609.hp2 HG00673.hp1 HG01109.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03831.hp2 NA18985.hp1 NA18990.hp2 NA19063.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0062 others(8): Show a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0001g0137 a0001c0001t0001g0154 a0001c0001t0001g0191 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0246 a0001c0001t0001g0312	11	338	0.0325	26	c.102 others(45): Show c.1023+1177_1023+1178insATATATATATATATATATATATATAT	SAMD3	ENSG00000164483.17	transcript	ENST00000439090.7	protein_coding	9/11			chr6	TogoVar
SAMD4A_chr14_54562128_54798312	54766329	C C	CTAGGCAG others(19): Show CTAGGCAGGTTACAGTAGTGAGAGAAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0135 a0002c0003t0002g0135	1	262	0.0038	26	c.159 others(45): Show c.1596+1815_1596+1840dupTTAGGCAGGTTACAGTAGTGAGAGAA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD5_chr6_147503690_147575021	147551812	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0073 a0001c0002t0004g0073	1	364	0.0028	26	c.460 others(45): Show c.460-12557_460-12556insATATATATATATATATATATATATAT	SAMD5	ENSG00000203727.4	transcript	ENST00000367474.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
SAMHD1_chr20_36885229_36956708	36947385	G G	GGTGTGTG others(19): Show GGTGTGTGTGATTTGGAAGAGGTGTGT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	340	0.0029	26	c.209 others(41): Show c.209-607_209-582dupACACACCTCTTCCAAATCACACACAC	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	1/15			chr20	TogoVar
SAP130_chr2_127936222_128033059	128003957	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	350	0.0029	26	c.870 others(43): Show c.870-3529_870-3504dupAAAAAAAAAAAAAAAAAAAAAAAAAA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	7/20			chr2	TogoVar
SAP130_chr2_127936222_128033059	128018483	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03516.hp1 HG01891.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0087 a0001c0004t0001g0088 a0001c0004t0001g0087 a0001c0004t0001g0088	2	350	0.0057	26	c.113 others(41): Show c.113-569_113-568insTTTTTTTTTTTTTTTTTTTTTTTTTT	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	2/20			chr2	TogoVar
SAP130_chr2_127936222_128033059	128030217	G G	GTCTTAAC others(19): Show GTCTTAACCCCCCCAACCACACACAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	350	0.0029	26	c.-22 others(37): Show c.-2285_-2284insGTTGTGTGTGGTTGGGGGGGTTAAGA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding		2159		chr2	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(19): Show ATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0265 a0001c0001t0014g0265	1	360	0.0028	26	c.995 others(41): Show c.995-649_995-648insAAAAAAAAAAAAAAAATATATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARDH_chr9_133658560_133743352	133667730	A A	AGGGCACC others(19): Show AGGGCACCTCCTGCATCCTCAGCCTGG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0010 a0010	a0010c0053 a0010c0053	a0010c0053t0001 a0010c0053t0001	a0010c0053t0001g0183 a0010c0053t0001g0183	1	262	0.0038	26	c.249 others(43): Show c.2496-886_2496-861dupCCAGGCTGAGGATGCAGGAGGTGCCC	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668413	T T	TCTCCCTT others(19): Show TCTCCCTTACCCTCCCTCTCCCTCACC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02922.hp2 HG02976.hp2 others(7): Show HG01243.hp2 HG02922.hp2 HG02976.hp2 HG03195.hp2 HG03209.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG04204.hp1 NA19067.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0011	a0001c0001 a0002c0004 a0003c0002 others(3): Show a0001c0001 a0002c0004 a0003c0002 a0003c0017 a0005c0019 a0011c0077	a0001c0001t0002 a0002c0004t0001 a0003c0002t0001 others(4): Show a0001c0001t0002 a0002c0004t0001 a0003c0002t0001 a0003c0002t0002 a0003c0017t0002 a0005c0019t0001 a0011c0077t0002	a0001c0001t0002g0020 a0002c0004t0001g0185 a0003c0002t0001g0053 others(7): Show a0001c0001t0002g0020 a0002c0004t0001g0185 a0003c0002t0001g0053 a0003c0002t0001g0198 a0003c0002t0001g0199 a0003c0002t0002g0242 a0003c0017t0002g0006 a0005c0019t0001g0080 a0005c0019t0001g0081 a0011c0077t0002g0057	10	262	0.0382	26	c.249 others(45): Show c.2496-1544_2496-1543insGGTGAGGGAGAGGGAGGGTAAGGGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668620	C C	CCTCTCCC others(19): Show CCTCTCCCTCACCTTCCCTCTCCCTTA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0004 a0003c0017t0004	a0003c0017t0004g0004 a0003c0017t0004g0004	1	262	0.0038	26	c.249 others(45): Show c.2496-1751_2496-1750insTAAGGGAGAGGGAAGGTGAGGGAGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668620	C C	CCTCTCCC others(19): Show CCTCTCCCTCTCCTTCCCTCTCCCTTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00639.hp2 others(17): Show HG00099.hp1 HG00280.hp1 HG00639.hp2 HG00738.hp1 HG01346.hp2 HG01891.hp1 HG01981.hp2 HG02040.hp1 HG02109.hp2 HG02257.hp1 HG02809.hp2 HG03239.hp2 HG03486.hp1 HG04228.hp1 NA18906.hp2 NA18971.hp1 NA18983.hp1 NA19003.hp2 NA19012.hp2 NA19065.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0011 others(6): Show a0001c0001 a0001c0006 a0001c0011 a0002c0004 a0002c0005 a0002c0020 a0002c0034 a0003c0002 a0003c0012	a0001c0001t0003 a0001c0001t0004 a0001c0006t0003 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0006t0003 a0001c0011t0003 a0002c0004t0003 a0002c0004t0004 a0002c0005t0003 a0002c0020t0004 a0002c0034t0003 a0003c0002t0003 a0003c0012t0004	a0001c0001t0003g0047 a0001c0001t0003g0164 a0001c0001t0004g0071 others(17): Show a0001c0001t0003g0047 a0001c0001t0003g0164 a0001c0001t0004g0071 a0001c0006t0003g0149 a0001c0006t0003g0153 a0001c0011t0003g0097 a0001c0011t0003g0098 a0001c0011t0003g0106 a0002c0004t0003g0046 a0002c0004t0003g0129 a0002c0004t0004g0210 a0002c0004t0004g0219 a0002c0004t0004g0220 a0002c0005t0003g0092 a0002c0005t0003g0094 a0002c0005t0003g0096 a0002c0020t0004g0016 a0002c0034t0003g0154 a0003c0002t0003g0048 a0003c0012t0004g0050	20	262	0.0763	26	c.249 others(45): Show c.2496-1751_2496-1750insTAAGGGAGAGGGAAGGAGAGGGAGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARS1_chr1_109208918_109243182	109219262	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01081.hp1 HG01175.hp1 others(9): Show HG00558.hp1 HG01081.hp1 HG01175.hp1 HG01192.hp2 HG01361.hp1 HG02109.hp1 HG02738.hp2 HG02976.hp1 HG03209.hp2 HG03654.hp1 NA18986.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0140 others(9): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0140 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0250 a0001c0001t0001g0257 a0001c0001t0001g0375	12	402	0.0299	26	c.137 others(43): Show c.137-4714_137-4689dupTATATATATATATATATATATATATA	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SART1_chr11_65956734_65985137	65970998	T T	TGAGGAGG others(19): Show TGAGGAGGGGGGTGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0264 a0001c0005t0002g0264	1	384	0.0026	26	c.157 others(45): Show c.1572+3178_1572+3179insAGGAGGGGGGTGGTGGGATTCATGAG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971028	G G	GCTGAGGA others(19): Show GCTGAGGAGGGGGATGGTGGGATTCAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0068 a0001c0004t0007g0068	1	384	0.0026	26	c.157 others(45): Show c.1572+3207_1572+3208insCTGAGGAGGGGGATGGTGGGATTCAT	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19			chr11	TogoVar
SART1_chr11_65956734_65985137	65971300	T T	TGAGGAGG others(19): Show TGAGGAGGGGGATGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0264 a0001c0005t0002g0264	1	384	0.0026	26	c.157 others(45): Show c.1572+3480_1572+3481insAGGAGGGGGATGGTGGGATTCATGAG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971425	T T	TGAGGAGG others(19): Show TGAGGAGGGGGATGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0264 a0001c0005t0002g0264	1	384	0.0026	26	c.157 others(45): Show c.1572+3605_1572+3606insAGGAGGGGGATGGTGGGATTCATGAG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971576	T T	TGAGGAGG others(19): Show TGAGGAGGGGGATGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00609.hp1 others(53): Show HG00423.hp1 HG00544.hp2 HG00609.hp1 HG00639.hp1 HG00738.hp1 HG00738.hp2 HG01169.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01975.hp1 HG02083.hp1 HG02155.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02895.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG04184.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18947.hp1 NA18949.hp2 NA18954.hp2 NA18967.hp1 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18980.hp1 NA18983.hp2 NA18993.hp2 NA18999.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19010.hp2 NA19064.hp2 NA19065.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19086.hp2 NA19090.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0012 others(1): Show a0001 a0002 a0012 a0015	a0001c0006 a0002c0001 a0002c0014 others(3): Show a0001c0006 a0002c0001 a0002c0014 a0002c0015 a0012c0016 a0015c0013	a0001c0006t0001 a0002c0001t0001 a0002c0014t0001 others(3): Show a0001c0006t0001 a0002c0001t0001 a0002c0014t0001 a0002c0015t0001 a0012c0016t0001 a0015c0013t0001	a0001c0006t0001g0141 a0002c0001t0001g0001 a0002c0001t0001g0005 others(32): Show a0001c0006t0001g0141 a0002c0001t0001g0001 a0002c0001t0001g0005 a0002c0001t0001g0006 a0002c0001t0001g0009 a0002c0001t0001g0011 a0002c0001t0001g0023 a0002c0001t0001g0026 a0002c0001t0001g0027 a0002c0001t0001g0029 a0002c0001t0001g0079 a0002c0001t0001g0081 a0002c0001t0001g0082 a0002c0001t0001g0083 a0002c0001t0001g0084 a0002c0001t0001g0087 a0002c0001t0001g0088 a0002c0001t0001g0094 a0002c0001t0001g0095 a0002c0001t0001g0096 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0107 a0002c0001t0001g0108 a0002c0001t0001g0109 a0002c0001t0001g0110 a0002c0001t0001g0113 a0002c0001t0001g0135 a0002c0001t0001g0146 a0002c0001t0001g0148 a0002c0001t0001g0154 a0002c0014t0001g0001 a0002c0015t0001g0001 a0012c0016t0001g0089 a0015c0013t0001g0005	56	384	0.1458	26	c.157 others(45): Show c.1572+3756_1572+3757insAGGAGGGGGATGGTGGGATTCATGAG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SASH1_chr6_148337838_148557044	148368768	G G	GTGCGCAC others(19): Show GTGCGCACGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02602.hp1 HG02683.hp2 HG02273.hp1 HG02602.hp1 HG02683.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0034 a0002c0002t0001 a0001c0001t0002 a0001c0001t0034 a0002c0002t0001	a0001c0001t0002g0127 a0001c0001t0034g0225 a0002c0002t0001g0223 a0001c0001t0002g0127 a0001c0001t0034g0225 a0002c0002t0001g0223	3	322	0.0093	26	c.157 others(45): Show c.157-21366_157-21365insTGCGCACGCACACACACACACACACA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148368770	G G	GCACACAC others(19): Show GCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02572.hp2 HG01069.hp1 HG02572.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0001 a0002c0004t0008 a0001c0003t0001 a0002c0004t0008	a0001c0003t0001g0135 a0002c0004t0008g0093 a0001c0003t0001g0135 a0002c0004t0008g0093	2	322	0.0062	26	c.157 others(45): Show c.157-21339_157-21338insACACACACACACACACACACACACAC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387566	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0178 a0002c0002t0003g0178	1	322	0.0031	26	c.157 others(43): Show c.157-2567_157-2566insTTCTTTCTTTCTTTCTTTCTTTCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH3_chrX_129774949_129800201	129789109	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	307	0.0033	26	c.300 others(41): Show c.300+533_300+534insGAAAGAAAGAAAGAAAGAAAGAAAGA	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SATB1_chr3_18340377_18430339	18344358	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0061 a0001c0001t0039g0061	1	352	0.0028	26	c.47 others(37): Show c.4786_*4811dupAAAAAAAAAAAAAAAAAAAAAAAAAA	SATB1	ENSG00000182568.18	transcript	ENST00000338745.11	protein_coding		1018		chr3	TogoVar
SBDS_chr7_66982680_67000586	66989871	T T	TTTAACTT others(19): Show TTTAACTTAATTTTCATCTCTTTAAAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG01109.hp2 others(2): Show HG00280.hp1 HG00642.hp2 HG01109.hp2 HG01261.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0189 a0001c0001t0001g0191 others(2): Show a0001c0001t0001g0158 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0215	5	438	0.0114	26	c.624 others(43): Show c.624+1265_624+1266insGTTTAAAGAGATGAAAATTAAGTTAA	SBDS	ENSG00000126524.12	transcript	ENST00000246868.7	protein_coding	4/4			chr7	TogoVar
SBF2_chr11_9773668_10299219	9989055	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0164 a0001c0003t0002g0164	1	224	0.0045	26	c.139 others(43): Show c.1395+441_1395+442insGTATATATATATATATATATATATAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	13/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9994577	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01361.hp1 HG02055.hp1 others(7): Show HG00544.hp2 HG01361.hp1 HG02055.hp1 HG02970.hp1 HG03516.hp1 NA18939.hp1 NA18969.hp2 NA19005.hp1 NA19064.hp2 NA19066.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0005t0001 a0002c0002t0004 a0003c0004t0003	a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0003g0031 others(7): Show a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0003g0031 a0001c0001t0012g0001 a0001c0005t0001g0209 a0001c0005t0001g0210 a0002c0002t0004g0014 a0002c0002t0004g0020 a0003c0004t0003g0022 a0003c0004t0003g0032	10	224	0.0446	26	c.976 others(41): Show c.976-580_976-579insATATATATATATATATATATATATAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	9/39			chr11	TogoVar

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