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
RUNX2_chr6_45323330_45556082	45485697	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03579.hp2 NA18906.hp2 others(1): Show HG00741.hp2 HG03579.hp2 NA18906.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0097 a0001c0001t0001g0114 a0001c0001t0002g0171 others(1): Show a0001c0001t0001g0097 a0001c0001t0001g0114 a0001c0001t0002g0171 a0001c0002t0001g0143	4	72	0.0556	28	c.686 others(45): Show c.686-6224_686-6223insTATATATATATATATATATATATATATA	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RUVBL1_chr3_128075810_128128812	128088625	C C	CTGGGTCT others(21): Show CTGGGTCTTGTTCTGTGGCCCAGGCTGAA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	358	0.0028	28	c.101 others(45): Show c.1017-818_1017-817insTTCAGCCTGGGCCACAGAACAAGACCCA	RUVBL1	ENSG00000175792.12	transcript	ENST00000322623.10	protein_coding	8/10			chr3	TogoVar
RWDD4_chr4_183634635_183664185	183638510	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0055 a0001c0004t0002g0055	1	467	0.0021	28	c.29 others(39): Show c.2925_*2926insCTTTCTTTTTTTTTTTTTTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding		1124		chr4	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG01123.hp2 others(5): Show HG00323.hp2 HG00597.hp2 HG01123.hp2 HG01358.hp1 HG01517.hp2 HG03491.hp2 HG04199.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0102 a0001c0001t0001g0146 others(4): Show a0001c0001t0001g0021 a0001c0001t0001g0102 a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0205 a0001c0001t0001g0214	8	12	0.6667	28	c.535 others(45): Show c.535-1975_535-1948dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	25	0.0400	28	c.49+ others(45): Show c.49+20085_49+20086insATATATATATATATATTTTTTTTTTTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158551063	T T	TGTTTTGG others(21): Show TGTTTTGGGTTGTGGGTTAAAACTGGTTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02818.hp1 HG02970.hp2 others(1): Show HG02280.hp2 HG02818.hp1 HG02970.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 others(1): Show a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0181	4	208	0.0192	28	c.50- others(45): Show c.50-21635_50-21634insGTTTTGGGTTGTGGGTTAAAACTGGTTG	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158626148	A A	ATAGATAG others(21): Show ATAGATAGATAGATAGATAGATAGATAGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	145	0.0069	28	c.756 others(43): Show c.756-645_756-644insTTAGATAGATAGATAGATAGATAGATAG	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP2_chr13_31734526_31808389	31759375	G G	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02155.hp2 NA18967.hp2 HG02027.hp1 HG02155.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0136 a0001c0001t0001g0167 a0001c0004t0001g0278 a0001c0001t0001g0136 a0001c0001t0001g0167 a0001c0004t0001g0278	3	36	0.0833	28	c.241 others(45): Show c.241+1015_241+1042dupAAGAAAGAAAGAAAGAAAGAAAGAAAGA	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
RXFP2_chr13_31734526_31808389	31776102	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0276 a0001c0002t0002g0276	1	75	0.0133	28	c.641 others(43): Show c.641+727_641+754dupTTCTTTCTTTCTTTCTTTCTTTCTTTCT	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
RXFP3_chr5_33931386_33943918	33935020	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	99	0.0101	28	c.-17 others(39): Show c.-1721_-1720insTTTCTTTCTTTCTTTCTTTCTTTCTTTC	RXFP3	ENSG00000182631.7	transcript	ENST00000330120.5	protein_coding		1365		chr5	TogoVar
RYK_chr3_134152133_134255859	134249917	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	108	0.0093	28	c.232 others(43): Show c.232+505_232+506insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	1/14			chr3	TogoVar
RYR1_chr19_38428691_38592564	38484438	C C	CCCTTCCT others(21): Show CCCTTCCTTCCTCTCTCCCTCCCTCACTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0019 a0019	a0019c0083 a0019c0083	a0019c0083t0002 a0019c0083t0002	a0019c0083t0002g0205 a0019c0083t0002g0205	1	189	0.0053	28	c.493 others(45): Show c.4934+933_4934+934insCTCTCCCTCCCTCACTTCCTTCCTTCCT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	33/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38585369	G G	GATAGATA others(21): Show GATAGATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0110 a0001c0110	a0001c0110t0001 a0001c0110t0001	a0001c0110t0001g0179 a0001c0110t0001g0179	1	154	0.0065	28	c.148 others(47): Show c.14803+273_14803+274insGATATATATATATATATATATATATA TA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	102/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38590394	A A	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0003 a0003	a0003c0064 a0003c0064	a0003c0064t0001 a0003c0064t0001	a0003c0064t0001g0156 a0003c0064t0001g0156	1	109	0.0092	28	c.29 others(39): Show c.2974_*2975insAAAAAAATATATATATATATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2831		chr19	TogoVar
RYR2_chr1_237037184_237838988	237082524	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0010 a0001c0049t0010	a0001c0049t0010g0044 a0001c0049t0010g0044	1	11	0.0909	28	c.48+ others(45): Show c.48+39961_48+39988dupTATATATATATATATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237408392	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01261.hp2 HG02055.hp1 HG01109.hp2 HG01261.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0017 a0001c0022 a0001c0001 a0001c0017 a0001c0022	a0001c0001t0001 a0001c0017t0034 a0001c0022t0009 a0001c0001t0001 a0001c0017t0034 a0001c0022t0009	a0001c0001t0001g0099 a0001c0017t0034g0032 a0001c0022t0009g0066 a0001c0001t0001g0099 a0001c0017t0034g0032 a0001c0022t0009g0066	3	54	0.0556	28	c.774 others(45): Show c.774-8643_774-8642insTATATATATATATATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237473427	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19043.hp2 HG03471.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0003 a0001c0001t0004 a0001c0002t0003	a0001c0001t0004g0036 a0001c0002t0003g0008 a0001c0001t0004g0036 a0001c0002t0003g0008	2	60	0.0333	28	c.170 others(47): Show c.1708+4243_1708+4244insTTCTTTCTTTCTTTCTTTCTTTCTTT CT	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(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp1	a0001 a0001	a0001c0010 a0001c0015 a0001c0010 a0001c0015	a0001c0010t0004 a0001c0010t0026 a0001c0015t0006 a0001c0010t0004 a0001c0010t0026 a0001c0015t0006	a0001c0010t0004g0097 a0001c0010t0026g0051 a0001c0015t0006g0034 a0001c0010t0004g0097 a0001c0010t0026g0051 a0001c0015t0006g0034	3	43	0.0698	28	c.170 others(47): Show c.1708+4248_1708+4275dupTTCTTTCTTTCTTTCTTTCTTTCTTT CT	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(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG03516.hp2 HG03579.hp1 HG01981.hp1 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0029 a0001c0048 a0001c0049 a0001c0029 a0001c0048 a0001c0049	a0001c0029t0008 a0001c0048t0001 a0001c0049t0010 a0001c0029t0008 a0001c0048t0001 a0001c0049t0010	a0001c0029t0008g0089 a0001c0048t0001g0007 a0001c0049t0010g0044 a0001c0029t0008g0089 a0001c0048t0001g0007 a0001c0049t0010g0044	3	15	0.2000	28	c.182 others(44): Show c.1828-110_1828-83dupGAAGGAAGGAAGGAAGGAAGGAAGGAAG	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	18/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237524719	T T	TATATATA others(21): Show TATATATATAGACATATATGTATATACAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0016 a0001c0007t0016	a0001c0007t0016g0042 a0001c0007t0016g0042	1	100	0.0100	28	c.282 others(47): Show c.2823-5696_2823-5669dupCATATATGTATATACAGATATATATA GA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	24/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237710699	G G	GTAGATAG others(21): Show GTAGATAGATAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0016 a0001c0007t0016	a0001c0007t0016g0042 a0001c0007t0016g0042	1	14	0.0714	28	c.102 others(49): Show c.10231-1028_10231-1027insGATAGATAGATAGATAGATAGATA GATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	70/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33310452	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0007 a0004c0016t0007	a0004c0016t0007g0116 a0004c0016t0007g0116	1	92	0.0109	28	c.-59 others(37): Show c.-594_-593insACACACACACACACACACACACACACAC	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding		514		chr15	TogoVar
RYR3_chr15_33305967_33871102	33336545	G G	GGAAGGAA others(21): Show GGAAGGAAGGAAGGAAGGAAAGAAGGAAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0096 a0001c0096	a0001c0096t0001 a0001c0096t0001	a0001c0096t0001g0120 a0001c0096t0001g0120	1	104	0.0096	28	c.51+ others(45): Show c.51+25451_51+25452insAGGAAGGAAGGAAGGAAAGAAGGAAAGA	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(21): Show CTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0027 a0027	a0027c0124 a0027c0124	a0027c0124t0001 a0027c0124t0001	a0027c0124t0001g0061 a0027c0124t0001g0061	1	68	0.0147	28	c.51+ others(45): Show c.51+68592_51+68593insCTCTCTCTCTCTCTATATATATATATAT	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(21): Show TATATATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18959.hp2 NA18946.hp2 NA18959.hp2	a0004 a0004	a0004c0016 a0004c0070 a0004c0016 a0004c0070	a0004c0016t0007 a0004c0070t0001 a0004c0016t0007 a0004c0070t0001	a0004c0016t0007g0116 a0004c0070t0001g0010 a0004c0016t0007g0116 a0004c0070t0001g0010	2	125	0.0160	28	c.52- others(43): Show c.52-8915_52-8914insTATATATATATATATACACATACATATA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33664589	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0035 a0035	a0035c0094 a0035c0094	a0035c0094t0003 a0035c0094t0003	a0035c0094t0003g0070 a0035c0094t0003g0070	1	30	0.0333	28	c.561 others(45): Show c.5619+853_5619+854insGTGTGTGTGTATATATATATATATATAT	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(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	119	0.0084	28	c.561 others(45): Show c.5619+878_5619+879insTATATATATATATATATATATATATACA	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(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0035 a0003c0035	a0003c0035t0004 a0003c0035t0004	a0003c0035t0004g0107 a0003c0035t0004g0107	1	11	0.0909	28	c.648 others(47): Show c.6484-1811_6484-1784dupTCTCTCTCTCTCTCTCTCTCTCTCTC TC	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	42/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33708985	C C	CAGGGTGG others(21): Show CAGGGTGGAGCAGGTGATCAGAATGAGTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp1 HG01243.hp2 others(24): Show HG01081.hp2 HG01106.hp1 HG01243.hp2 HG01255.hp2 HG02145.hp1 HG02155.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02647.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp2 NA18522.hp1 NA18747.hp1 NA19005.hp1 NA19009.hp2 NA19030.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0006 a0007 a0009 a0011 a0013 a0014 a0031 a0033 a0038 a0043	a0001c0001 a0001c0010 a0001c0013 others(22): Show a0001c0001 a0001c0010 a0001c0013 a0001c0037 a0001c0047 a0001c0082 a0001c0101 a0002c0051 a0002c0088 a0002c0090 a0002c0119 a0003c0012 a0003c0065 a0006c0048 a0007c0073 a0009c0054 a0009c0055 a0011c0063 a0013c0123 a0014c0025 a0014c0027 a0031c0052 a0033c0066 a0038c0020 a0043c0024	a0001c0001t0001 a0001c0010t0001 a0001c0013t0001 others(22): Show a0001c0001t0001 a0001c0010t0001 a0001c0013t0001 a0001c0037t0003 a0001c0047t0001 a0001c0082t0002 a0001c0101t0001 a0002c0051t0007 a0002c0088t0002 a0002c0090t0001 a0002c0119t0001 a0003c0012t0003 a0003c0065t0002 a0006c0048t0004 a0007c0073t0001 a0009c0054t0001 a0009c0055t0005 a0011c0063t0001 a0013c0123t0003 a0014c0025t0001 a0014c0027t0001 a0031c0052t0001 a0033c0066t0002 a0038c0020t0001 a0043c0024t0001	a0001c0001t0001g0044 a0001c0010t0001g0051 a0001c0010t0001g0142 others(24): Show a0001c0001t0001g0044 a0001c0010t0001g0051 a0001c0010t0001g0142 a0001c0013t0001g0026 a0001c0037t0003g0089 a0001c0047t0001g0133 a0001c0082t0002g0025 a0001c0101t0001g0128 a0002c0051t0007g0136 a0002c0088t0002g0071 a0002c0090t0001g0076 a0002c0119t0001g0090 a0003c0012t0003g0064 a0003c0012t0003g0113 a0003c0065t0002g0150 a0006c0048t0004g0002 a0007c0073t0001g0138 a0009c0054t0001g0112 a0009c0055t0005g0060 a0011c0063t0001g0126 a0013c0123t0003g0047 a0014c0025t0001g0057 a0014c0027t0001g0046 a0031c0052t0001g0137 a0033c0066t0002g0004 a0038c0020t0001g0074 a0043c0024t0001g0110	27	152	0.1776	28	c.661 others(47): Show c.6619+1958_6619+1959insTAGGGTGGAGCAGGTGATCAGAATGA GT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	43/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789986	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03225.hp2 NA20300.hp2 HG02622.hp2 HG03225.hp2 NA20300.hp2	a0003 a0005 a0003 a0005	a0003c0078 a0003c0106 a0005c0029 a0003c0078 a0003c0106 a0005c0029	a0003c0078t0003 a0003c0106t0002 a0005c0029t0001 a0003c0078t0003 a0003c0106t0002 a0005c0029t0001	a0003c0078t0003g0024 a0003c0106t0002g0080 a0005c0029t0001g0075 a0003c0078t0003g0024 a0003c0106t0002g0080 a0005c0029t0001g0075	3	52	0.0577	28	c.983 others(47): Show c.9830+1551_9830+1552insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33794043	C C	CATATTAT others(21): Show CATATTATATATAATATATACATAAATAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03688.hp1 HG00558.hp1 HG03688.hp1	a0001 a0046 a0001 a0046	a0001c0001 a0046c0109 a0001c0001 a0046c0109	a0001c0001t0002 a0046c0109t0005 a0001c0001t0002 a0046c0109t0005	a0001c0001t0002g0030 a0046c0109t0005g0040 a0001c0001t0002g0030 a0046c0109t0005g0040	2	134	0.0149	28	c.983 others(47): Show c.9830+5589_9830+5590insTATATATAATATATACATAAATAAAT AT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(21): Show AGGGGGTGGGGGGAGGGGGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	41	0.0244	28	c.-1- others(41): Show c.-1-977_-1-976insCCCCCCCGCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(21): Show AGGGGGTGGGGGGAGGGGGGGGCGGGGGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG00735.hp1 others(40): Show HG00558.hp1 HG00642.hp1 HG00735.hp1 HG01346.hp1 HG01928.hp2 HG01943.hp1 HG02129.hp1 HG02165.hp2 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02723.hp1 HG02965.hp1 HG02976.hp2 HG03195.hp1 HG03834.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18941.hp2 NA18947.hp2 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18965.hp2 NA18977.hp1 NA18981.hp2 NA18997.hp1 NA19002.hp1 NA19056.hp1 NA19056.hp2 NA19064.hp2 NA19068.hp2 NA19077.hp2 NA19081.hp1 NA19086.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0113 others(11): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0113 a0001c0001t0001g0142 a0001c0001t0001g0161 a0001c0002t0001g0049 a0001c0002t0001g0106 a0001c0002t0001g0191 a0001c0002t0002g0008 a0001c0002t0002g0050 a0001c0002t0002g0063 a0001c0002t0002g0071 a0001c0002t0002g0082 a0001c0002t0002g0172	43	83	0.5181	28	c.-1- others(41): Show c.-1-977_-1-976insCCCCCCGCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(21): Show AGGGGGTGGGGGGAGGGGGGGGCGGGGGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19240.hp2 HG03453.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0053 a0001c0002t0003g0053	2	42	0.0476	28	c.-1- others(41): Show c.-1-977_-1-976insACCCCCGCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(21): Show AGGGGGTGGGGGGAGGGGGGGGCGGGGTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	41	0.0244	28	c.-1- others(41): Show c.-1-977_-1-976insCACCCCGCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(21): Show AGGGGGTGGGGGGAGGGGGGGGGCGGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG01169.hp2 others(3): Show HG00099.hp2 HG00642.hp2 HG01169.hp2 HG01943.hp2 HG02698.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0023 a0001c0001t0001g0044 a0001c0002t0001g0199 a0001c0001t0001g0023 a0001c0001t0001g0044 a0001c0002t0001g0199	6	46	0.1304	28	c.-1- others(41): Show c.-1-977_-1-976insCCCCCGCCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(21): Show AGGGGGTGGGGGGGGGGGGGGGCGGGGGG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	41	0.0244	28	c.-1- others(41): Show c.-1-977_-1-976insCCCCCCGCCCCCCCCCCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(21): Show AGGGGGTGGGGGGTGGGGGGGGGCGGGGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp1 HG01978.hp1 others(1): Show HG00735.hp2 HG01243.hp1 HG01978.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0040 a0001c0002t0001g0086 a0001c0002t0002g0180 a0001c0002t0001g0040 a0001c0002t0001g0086 a0001c0002t0002g0180	4	44	0.0909	28	c.-1- others(41): Show c.-1-977_-1-976insCCCCCGCCCCCCCCCACCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603398	T T	TGGGGGGA others(21): Show TGGGGGGAGGGGGGGGCGGGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0212 a0001c0002t0003g0212	1	411	0.0024	28	c.-1- others(41): Show c.-1-983_-1-982insGCCCCCCCCCCCGCCCCCCCCTCCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100PBP_chr1_32812653_32863875	32824827	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0083 a0001c0001t0008g0083	1	19	0.0526	28	c.-11 others(45): Show c.-119-467_-119-466insTATATATATATATATATATATATATATA	S100PBP	ENSG00000116497.18	transcript	ENST00000373475.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAA2_chr11_18240240_18253668	18251939	T T	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	355	0.0028	28	c.-33 others(39): Show c.-3342_-3341insGGAAGGAAGGAAGGAAGGAAGGAAGGAA	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3272		chr11	TogoVar
SAA2_chr11_18240240_18253668	18251974	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 NA18979.hp2 NA20805.hp1 HG01099.hp2 NA18979.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	3	256	0.0117	28	c.-33 others(39): Show c.-3377_-3376insAAAGGAAGGAAGGAAGGAAGGAAGGAAG	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3307		chr11	TogoVar
SAA2_chr11_18240240_18253668	18251974	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01361.hp1 HG01516.hp1 others(4): Show HG01261.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp2 HG01952.hp1 NA18970.hp1 NA18976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0079 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0079 a0001c0001t0001g0092 a0002c0002t0001g0015	7	260	0.0269	28	c.-33 others(39): Show c.-3377_-3376insAAAGAAAGGAAGGAAGGAAGGAAGGAAG	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3307		chr11	TogoVar
SAA2_chr11_18240240_18253668	18251974	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG03654.hp2 HG00597.hp2 HG03654.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0002c0002t0001g0058 a0001c0001t0001g0003 a0002c0002t0001g0058	2	255	0.0078	28	c.-33 others(39): Show c.-3377_-3376insAAAGAAAGAAAGGAAGGAAGGAAGGAAG	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3307		chr11	TogoVar
SAA2_chr11_18240240_18253668	18251974	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	254	0.0039	28	c.-33 others(39): Show c.-3377_-3376insAAAGAAAGAAAGAAAGGAAGGAAGGAAG	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3307		chr11	TogoVar
SAC3D1_chr11_65036210_65049828	65039029	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01928.hp2 HG01943.hp1 HG01192.hp2 HG01928.hp2 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0002 a0001c0002t0001g0004	3	174	0.0172	28	c.-22 others(39): Show c.-2264_-2263insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SAC3D1	ENSG00000168061.17	transcript	ENST00000652489.1	protein_coding		2180		chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0118 a0001c0002t0002g0118	1	53	0.0189	28	c.-28 others(39): Show c.-2803_-2802insTATATATATATATATATATATATATATT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 NA19084.hp2 HG01515.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0012 a0001c0002t0003 a0001c0002t0012	a0001c0002t0003g0002 a0001c0002t0012g0120 a0001c0002t0003g0002 a0001c0002t0012g0120	2	54	0.0370	28	c.-28 others(39): Show c.-2803_-2802insTATATATATATATATATATATTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03453.hp2 HG03041.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0018 a0001c0002t0004g0173 a0001c0002t0004g0018 a0001c0002t0004g0173	2	54	0.0370	28	c.-28 others(39): Show c.-2803_-2802insTATATATATATATATATATTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(21): Show ATATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0166 a0001c0002t0003g0166	1	53	0.0189	28	c.-28 others(39): Show c.-2803_-2802insTATATATATATATATTTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar

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