JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RUFY2_chr10_68338408_68412277	68359464	G G	GCTACTAT others(23): Show GCTACTATATATAAAAATATATATAGTAGTA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	276	0.0036	30	c.155 others(49): Show c.1551-4093_1551-4064dupTACTACTATATATATTTTTATATATA GTAG	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	15/17			chr10	TogoVar
RUFY3_chr4_70716964_70813619	70765209	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATACATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00597.hp1 others(31): Show HG00408.hp1 HG00438.hp1 HG00597.hp1 HG01258.hp1 HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02074.hp1 HG02132.hp2 HG03927.hp1 NA18942.hp1 NA18955.hp2 NA18956.hp2 NA18968.hp1 NA18970.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19009.hp1 NA19056.hp1 NA19057.hp2 NA19065.hp2 NA19084.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0030	a0001c0001t0003g0013 a0001c0001t0003g0017 a0001c0001t0003g0018 others(31): Show a0001c0001t0003g0013 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0006g0057 a0001c0001t0006g0124 a0001c0001t0006g0178 a0001c0001t0012g0021 a0001c0001t0012g0036 a0001c0001t0012g0062 a0001c0001t0030g0172	34	254	0.1339	30	c.572 others(45): Show c.572+634_572+635insGTGTATATATATATATACATATATATATAT	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RUFY3_chr4_70716964_70813619	70774644	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0024 a0001c0001t0039g0024	1	254	0.0039	30	c.759 others(45): Show c.759-523_759-522insAAAAAAAAAAAATATATATATATATATATA	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RUFY3_chr4_70716964_70813619	70787187	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0220 a0001c0001t0019g0220	1	254	0.0039	30	c.107 others(49): Show c.1072-1618_1072-1617insAAAAAAAAAATATATATATATATATA TATA	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RUNDC3B_chr7_87623398_87837296	87652621	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG04199.hp1 NA19043.hp2 HG02055.hp1 HG04199.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0050 a0001c0001t0058 a0001c0001t0043 a0001c0001t0050 a0001c0001t0058	a0001c0001t0043g0011 a0001c0001t0050g0168 a0001c0001t0058g0018 a0001c0001t0043g0011 a0001c0001t0050g0168 a0001c0001t0058g0018	3	202	0.0149	30	c.238 others(47): Show c.238+1709_238+1710insTATATATATATATATATATATATATATA TA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(23): Show ATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0132 a0001c0001t0010g0132	1	132	0.0076	30	c.88+ others(47): Show c.88+15411_88+15412insCACACACACATATATATATATATATATA TA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(23): Show ATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG04204.hp2 HG02896.hp1 HG02897.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0074 a0001c0002t0009 a0001c0001t0074 a0001c0002t0009	a0001c0001t0074g0023 a0001c0002t0009g0045 a0001c0002t0009g0046 a0001c0001t0074g0023 a0001c0002t0009g0045 a0001c0002t0009g0046	3	132	0.0227	30	c.88+ others(47): Show c.88+15411_88+15412insCACACACACACACATATATATATATATA TA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(23): Show ATATATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0082 a0001c0001t0023g0082	1	132	0.0076	30	c.88+ others(47): Show c.88+15411_88+15412insCACACACACACACACATATATATATATA TA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(23): Show ATATATATATATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02976.hp1 HG01257.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0072 a0001c0001t0004 a0001c0001t0072	a0001c0001t0004g0095 a0001c0001t0072g0031 a0001c0001t0004g0095 a0001c0001t0072g0031	2	132	0.0152	30	c.88+ others(47): Show c.88+15411_88+15412insCACACACACACACACACATATATATATA TA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(23): Show ATATATATATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0041 a0001c0001t0023g0041	1	132	0.0076	30	c.88+ others(47): Show c.88+15411_88+15412insCACACACACACACACACACATATATATA TA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(23): Show ATATATATATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0056 a0001c0001t0019g0056	1	132	0.0076	30	c.88+ others(47): Show c.88+15411_88+15412insCACACACACACACACACACACATATATA TA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1_chr21_34782801_35054302	34930270	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0148 a0001c0001t0025g0148	1	170	0.0059	30	c.59- others(47): Show c.59-37308_59-37307insTATATATATATATATATACACACACACA CA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34967319	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00642.hp2 HG00438.hp2 HG00621.hp1 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0034 a0001c0001t0001g0152 a0001c0001t0014g0045 a0001c0001t0001g0034 a0001c0001t0001g0152 a0001c0001t0014g0045	3	170	0.0177	30	c.59- others(47): Show c.59-74386_59-74357dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	35049662	G G	GCTCCGAC others(23): Show GCTCCGACAGGATGTGGATCCCATCATTTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0072 a0001c0001t0005g0072	1	170	0.0059	30	c.-58 others(39): Show c.-584_-555dupTTAAATGATGGGATCCACATCCTGTCGGAG	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding		361		chr21	TogoVar
RUNX2_chr6_45323330_45556082	45485695	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19030.hp1 HG02109.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0009 a0001c0001t0012	a0001c0001t0009g0025 a0001c0001t0012g0148 a0001c0001t0009g0025 a0001c0001t0012g0148	2	178	0.0112	30	c.686 others(47): Show c.686-6245_686-6244insATATATATATATATATATATATATATAT AT	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RUNX2_chr6_45323330_45556082	45485695	G G	GTATGTAT others(23): Show GTATGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	178	0.0056	30	c.686 others(47): Show c.686-6245_686-6244insATGTATATATATATATATATATATATAT AT	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp2 HG03688.hp1 others(3): Show HG00099.hp2 HG00621.hp2 HG03688.hp1 HG03942.hp1 NA18998.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0234 a0001c0001t0001g0333 others(3): Show a0001c0001t0001g0158 a0001c0001t0001g0234 a0001c0001t0001g0333 a0001c0001t0001g0380 a0001c0001t0001g0391 a0001c0001t0001g0400	6	480	0.0125	30	c.535 others(47): Show c.535-1977_535-1948dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	210	0.0048	30	c.49+ others(47): Show c.49+20085_49+20086insATATATATATATATATATATATATTTTT TT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 homoSapiens_chm13v2.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0120 a0001c0001t0001g0092 a0001c0001t0001g0120	2	210	0.0095	30	c.49+ others(47): Show c.49+20085_49+20086insATATATATATATATATATATATTTTTTT TT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP4_chr1_155936638_155948087	155946579	G G	GGTTTTTT others(23): Show GGTTTTTTTTCTCTGTTATATTTTGTTATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	312	0.0032	30	c.37 others(41): Show c.3745_*3746insGTTTTTTTTCTCTGTTATATTTTGTTATTT	RXFP4	ENSG00000173080.6	transcript	ENST00000368318.5	protein_coding		3493		chr1	TogoVar
RYK_chr3_134152133_134255859	134249917	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0190 a0001c0001t0004g0190	1	376	0.0027	30	c.232 others(45): Show c.232+505_232+506insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	1/14			chr3	TogoVar
RYR1_chr19_38428691_38592564	38502751	T T	TGGGGCAG others(23): Show TGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG03139.hp2 HG03710.hp1 HG00733.hp1 HG03139.hp2 HG03710.hp1	a0001 a0013 a0016 a0001 a0013 a0016	a0001c0001 a0013c0040 a0016c0106 a0001c0001 a0013c0040 a0016c0106	a0001c0001t0001 a0013c0040t0001 a0016c0106t0001 a0001c0001t0001 a0013c0040t0001 a0016c0106t0001	a0001c0001t0001g0012 a0013c0040t0001g0108 a0016c0106t0001g0099 a0001c0001t0001g0012 a0013c0040t0001g0108 a0016c0106t0001g0099	3	218	0.0138	30	c.783 others(45): Show c.7835+53_7836-71dupCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	48/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR2_chr1_237037184_237838988	237117671	C C	CCTTCTCT others(23): Show CCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0033 a0001c0016t0033	a0001c0016t0033g0024 a0001c0016t0033g0024	1	100	0.0100	30	c.48+ others(47): Show c.48+75160_48+75189dupTCTCTTCTCTTCTCTTCTCTTCTCTTCT CT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237237945	C C	CCCTTTCC others(23): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03195.hp2 HG00741.hp1 HG03195.hp2	a0001 a0003 a0001 a0003	a0001c0018 a0003c0043 a0001c0018 a0003c0043	a0001c0018t0032 a0003c0043t0002 a0001c0018t0032 a0003c0043t0002	a0001c0018t0032g0041 a0003c0043t0002g0068 a0001c0018t0032g0041 a0003c0043t0002g0068	2	100	0.0200	30	c.49- others(47): Show c.49-32539_49-32510dupTTTCCTTTCCTTTCCTTTCCTTTCCTTT CC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237284505	A A	AAATATAT others(23): Show AAATATATAAATATAATATGTAAATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00738.hp1 others(27): Show HG00280.hp2 HG00408.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01261.hp2 HG01496.hp2 HG01928.hp1 HG02055.hp2 HG02257.hp2 HG02486.hp1 HG02523.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03579.hp2 HG03704.hp2 HG04228.hp2 NA18962.hp1 NA18962.hp2 NA19066.hp1 NA19066.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0010 a0001c0011 a0001c0014 a0001c0016 a0001c0017 a0001c0023 a0001c0030 a0001c0036 a0001c0041 a0001c0044 a0002c0009 a0002c0012 a0002c0039 a0003c0006 a0003c0021 a0003c0043 a0005c0033	a0001c0001t0003 a0001c0001t0007 a0001c0001t0015 others(26): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0015 a0001c0002t0003 a0001c0002t0026 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0005t0034 a0001c0007t0001 a0001c0010t0029 a0001c0011t0004 a0001c0014t0035 a0001c0016t0033 a0001c0017t0037 a0001c0023t0003 a0001c0030t0005 a0001c0036t0003 a0001c0041t0006 a0001c0044t0002 a0002c0009t0004 a0002c0009t0008 a0002c0012t0002 a0002c0039t0036 a0003c0006t0004 a0003c0021t0001 a0003c0043t0002 a0005c0033t0008	a0001c0001t0003g0089 a0001c0001t0007g0082 a0001c0001t0015g0069 others(27): Show a0001c0001t0003g0089 a0001c0001t0007g0082 a0001c0001t0015g0069 a0001c0002t0003g0052 a0001c0002t0026g0059 a0001c0003t0001g0063 a0001c0003t0002g0065 a0001c0003t0002g0087 a0001c0003t0003g0084 a0001c0003t0004g0060 a0001c0005t0034g0028 a0001c0007t0001g0020 a0001c0010t0029g0051 a0001c0011t0004g0064 a0001c0014t0035g0031 a0001c0016t0033g0024 a0001c0017t0037g0032 a0001c0023t0003g0071 a0001c0030t0005g0053 a0001c0036t0003g0038 a0001c0041t0006g0027 a0001c0044t0002g0014 a0002c0009t0004g0067 a0002c0009t0008g0040 a0002c0012t0002g0072 a0002c0039t0036g0030 a0003c0006t0004g0088 a0003c0021t0001g0019 a0003c0043t0002g0068 a0005c0033t0008g0049	30	100	0.3000	30	c.168 others(49): Show c.168+13897_168+13898insAATATAATATGTAAATATATATAATA TATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	2/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237465608	A A	AGCCTACT others(23): Show AGCCTACTGCACGGCTATGCTATACGGGATG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0009 a0001c0049t0009	a0001c0049t0009g0044 a0001c0049t0009g0044	1	100	0.0100	30	c.161 others(49): Show c.1613-3473_1613-3444dupCGGCTATGCTATACGGGATGGCCTAC TGCA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	16/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237473423	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0004 a0002c0009t0004	a0002c0009t0004g0067 a0002c0009t0004g0067	1	100	0.0100	30	c.170 others(49): Show c.1708+4237_1708+4238insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237473431	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0004 a0001c0005t0012g0004	1	100	0.0100	30	c.170 others(49): Show c.1708+4245_1708+4246insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237789505	C C	CCATGGCT others(23): Show CCATGGCTGCAGGTATAGTTCTATTATAGGT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18747.hp1 NA18962.hp1 HG02523.hp2 NA18747.hp1 NA18962.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0007 a0002c0009 a0001c0003 a0001c0007 a0002c0009	a0001c0003t0004 a0001c0007t0024 a0002c0009t0008 a0001c0003t0004 a0001c0007t0024 a0002c0009t0008	a0001c0003t0004g0060 a0001c0007t0024g0048 a0002c0009t0008g0040 a0001c0003t0004g0060 a0001c0007t0024g0048 a0002c0009t0008g0040	3	100	0.0300	30	c.134 others(51): Show c.13476+1431_13476+1460dupCATGGCTGCAGGTATAGTTCTATT ATAGGT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	92/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33379687	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0005 a0005	a0005c0032 a0005c0032	a0005c0032t0003 a0005c0032t0003	a0005c0032t0003g0071 a0005c0032t0003g0071	1	154	0.0065	30	c.51+ others(47): Show c.51+68592_51+68593insCTCTCTCTCTCTCTATATATATATATAT AT	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(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0027 a0001c0005t0001g0027	1	154	0.0065	30	c.52- others(47): Show c.52-12457_52-12456insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	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(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03209.hp2 HG02145.hp2 HG03209.hp2	a0006 a0032 a0006 a0032	a0006c0048 a0032c0036 a0006c0048 a0032c0036	a0006c0048t0004 a0032c0036t0010 a0006c0048t0004 a0032c0036t0010	a0006c0048t0004g0002 a0032c0036t0010g0088 a0006c0048t0004g0002 a0032c0036t0010g0088	2	154	0.0130	30	c.52- others(45): Show c.52-8929_52-8928insTATATATATATATATATATATATACACACA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33664589	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0093 a0002c0093	a0002c0093t0004 a0002c0093t0004	a0002c0093t0004g0050 a0002c0093t0004g0050	1	154	0.0065	30	c.561 others(47): Show c.5619+853_5619+854insGTGTATATATATATATATATATATATAT AT	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(23): Show GTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0038 a0038	a0038c0056 a0038c0056	a0038c0056t0001 a0038c0056t0001	a0038c0056t0001g0093 a0038c0056t0001g0093	1	154	0.0065	30	c.561 others(47): Show c.5619+853_5619+854insGTGTGTGTGTATATATATATATATATAT AT	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(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0092 a0002c0092	a0002c0092t0002 a0002c0092t0002	a0002c0092t0002g0144 a0002c0092t0002g0144	1	154	0.0065	30	c.561 others(47): Show c.5619+878_5619+879insTATATATATATATATATATATATATATA CA	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(23): Show CACACACACACACACACACACACACATATAT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0032 a0001c0003t0001g0032	1	154	0.0065	30	c.691 others(49): Show c.6912+1027_6912+1028insCATATATACACACACACACACACACA CACA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	45/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789658	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0083 a0001c0004t0001g0083	1	154	0.0065	30	c.983 others(49): Show c.9830+1201_9830+1202insATATATATATATATATATATATATAT TTTT	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(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0017 a0017	a0017c0041 a0017c0041	a0017c0041t0002 a0017c0041t0002	a0017c0041t0002g0114 a0017c0041t0002g0114	1	154	0.0065	30	c.983 others(49): Show c.9830+1551_9830+1552insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33858567	T T	TCATCGTC others(23): Show TCATCGTCTCTCAGAACAGAGAGCAAAGTCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(58): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00558.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01106.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02109.hp2 HG02155.hp1 HG02155.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02723.hp2 HG02738.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03688.hp2 HG04184.hp2 NA18522.hp2 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18959.hp1 NA18981.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp2 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19067.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(21): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0016 a0020 a0021 a0025 a0029 a0031 a0033 a0034 a0036 a0038 a0043 a0044 a0047	a0001c0001 a0001c0002 a0001c0003 others(45): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0013 a0001c0015 a0001c0079 a0001c0083 a0001c0095 a0001c0096 a0001c0098 a0001c0101 a0002c0090 a0002c0119 a0003c0043 a0004c0006 a0004c0068 a0004c0069 a0004c0070 a0004c0113 a0005c0008 a0005c0030 a0006c0042 a0006c0061 a0006c0062 a0006c0097 a0007c0021 a0007c0073 a0008c0007 a0008c0019 a0009c0063 a0010c0054 a0012c0025 a0012c0027 a0016c0020 a0020c0039 a0021c0034 a0025c0024 a0029c0076 a0031c0105 a0033c0100 a0034c0102 a0036c0060 a0038c0056 a0043c0052 a0044c0111 a0047c0115	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(46): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0006 a0001c0004t0001 a0001c0005t0001 a0001c0013t0001 a0001c0015t0001 a0001c0079t0006 a0001c0083t0001 a0001c0095t0001 a0001c0096t0001 a0001c0098t0001 a0001c0101t0001 a0002c0090t0001 a0002c0119t0001 a0003c0043t0001 a0004c0006t0001 a0004c0068t0001 a0004c0069t0006 a0004c0070t0001 a0004c0113t0001 a0005c0008t0001 a0005c0030t0001 a0006c0042t0001 a0006c0061t0001 a0006c0062t0001 a0006c0097t0001 a0007c0021t0001 a0007c0073t0001 a0008c0007t0001 a0008c0019t0001 a0009c0063t0001 a0010c0054t0001 a0012c0025t0001 a0012c0027t0001 a0016c0020t0001 a0020c0039t0001 a0021c0034t0001 a0025c0024t0001 a0029c0076t0001 a0031c0105t0001 a0033c0100t0001 a0034c0102t0001 a0036c0060t0001 a0038c0056t0001 a0043c0052t0001 a0044c0111t0001 a0047c0115t0006	a0001c0001t0001g0044 a0001c0001t0001g0096 a0001c0001t0001g0140 others(58): Show a0001c0001t0001g0044 a0001c0001t0001g0096 a0001c0001t0001g0140 a0001c0002t0001g0018 a0001c0002t0001g0043 a0001c0003t0001g0006 a0001c0003t0001g0032 a0001c0003t0006g0029 a0001c0004t0001g0037 a0001c0004t0001g0083 a0001c0004t0001g0127 a0001c0005t0001g0005 a0001c0005t0001g0027 a0001c0005t0001g0117 a0001c0013t0001g0026 a0001c0015t0001g0077 a0001c0015t0001g0118 a0001c0079t0006g0038 a0001c0083t0001g0143 a0001c0095t0001g0041 a0001c0096t0001g0120 a0001c0098t0001g0151 a0001c0101t0001g0128 a0002c0090t0001g0076 a0002c0119t0001g0090 a0003c0043t0001g0106 a0004c0006t0001g0119 a0004c0006t0001g0149 a0004c0068t0001g0033 a0004c0069t0006g0009 a0004c0070t0001g0010 a0004c0113t0001g0095 a0005c0008t0001g0019 a0005c0008t0001g0124 a0005c0030t0001g0007 a0006c0042t0001g0031 a0006c0061t0001g0022 a0006c0062t0001g0107 a0006c0097t0001g0081 a0007c0021t0001g0153 a0007c0073t0001g0138 a0008c0007t0001g0097 a0008c0007t0001g0100 a0008c0019t0001g0001 a0009c0063t0001g0126 a0010c0054t0001g0112 a0012c0025t0001g0058 a0012c0027t0001g0046 a0016c0020t0001g0074 a0020c0039t0001g0053 a0021c0034t0001g0091 a0025c0024t0001g0109 a0029c0076t0001g0056 a0031c0105t0001g0085 a0033c0100t0001g0021 a0034c0102t0001g0078 a0036c0060t0001g0125 a0038c0056t0001g0093 a0043c0052t0001g0137 a0044c0111t0001g0028 a0047c0115t0006g0042	61	154	0.3961	30	c.141 others(49): Show c.14142+657_14142+686dupCGTCTCTCAGAACAGAGAGCAAAGTC CCAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	99/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(23): Show AGGGGGTGGGGGGAGGGGGGGGCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02027.hp1 HG02257.hp1 others(18): Show HG01261.hp2 HG02027.hp1 HG02257.hp1 HG02630.hp1 HG02647.hp2 HG03490.hp1 HG03492.hp2 NA18943.hp2 NA18964.hp2 NA18967.hp1 NA18975.hp2 NA18978.hp2 NA18983.hp1 NA18991.hp1 NA19001.hp2 NA19011.hp1 NA19043.hp1 NA19055.hp2 NA19063.hp1 NA19077.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0083 others(9): Show a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0083 a0001c0001t0001g0095 a0001c0001t0001g0156 a0001c0002t0001g0186 a0001c0002t0001g0205 a0001c0002t0002g0019 a0001c0002t0002g0033 a0001c0002t0002g0061 a0001c0002t0002g0176 a0001c0002t0003g0206	21	452	0.0465	30	c.-1- others(43): Show c.-1-977_-1-976insCCCCCCCCGCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(23): Show AGGGGGTGGGGGGAGGGGGGGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00609.hp1 others(81): Show HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00733.hp2 HG01069.hp1 HG01081.hp2 HG01175.hp2 HG01243.hp2 HG01257.hp1 HG01346.hp2 HG01516.hp1 HG01517.hp2 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02896.hp2 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp1 NA18906.hp1 NA18942.hp2 NA18945.hp1 NA18952.hp2 NA18954.hp2 NA18970.hp1 NA18971.hp1 NA18980.hp1 NA18982.hp2 NA18992.hp1 NA18992.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0087 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0112 a0001c0001t0001g0125 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0006g0100 a0001c0002t0001g0051 a0001c0002t0001g0098 a0001c0002t0001g0116 a0001c0002t0001g0124 a0001c0002t0001g0174 a0001c0002t0001g0196 a0001c0002t0002g0007 a0001c0002t0002g0028 a0001c0002t0002g0034 a0001c0002t0002g0039 a0001c0002t0002g0062 a0001c0002t0002g0080 a0001c0002t0002g0195 a0001c0002t0003g0210	84	452	0.1858	30	c.-1- others(43): Show c.-1-977_-1-976insCCCCCCCGCCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(23): Show AGGGGGTGGGGGGAGGGGGGGGGTGGGGGGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	452	0.0022	30	c.-1- others(43): Show c.-1-977_-1-976insCCCCCCCACCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(23): Show AGGGGGTGGGGGGGAGGGGGGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0178 a0001c0002t0002g0178	1	452	0.0022	30	c.-1- others(43): Show c.-1-977_-1-976insCCCCCCCGCCCCCCCCTCCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(23): Show AGGGGGTGGGGGGTGGGGGGGGCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	452	0.0022	30	c.-1- others(43): Show c.-1-977_-1-976insCCCCCCCCGCCCCCCCCACCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603398	T T	TGGGGGGA others(23): Show TGGGGGGAGGGGGGGGCGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01258.hp2 NA18947.hp1 HG01258.hp2 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0110 a0001c0002t0001g0151 a0001c0001t0001g0110 a0001c0002t0001g0151	2	452	0.0044	30	c.-1- others(43): Show c.-1-983_-1-982insCCCCCCCCCCCCCCGCCCCCCCCTCCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603398	T T	TGGGGGGA others(23): Show TGGGGGGAGGGGGGGGCGGGGGGGGGGGGTG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0076 a0001c0002t0002g0076	1	452	0.0022	30	c.-1- others(43): Show c.-1-983_-1-982insCACCCCCCCCCCCCGCCCCCCCCTCCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603398	T T	TGGGGGGA others(23): Show TGGGGGGAGGGGGGGGGCGGGGGGGGGGGTG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0077 a0001c0002t0002g0077	1	452	0.0022	30	c.-1- others(43): Show c.-1-983_-1-982insCACCCCCCCCCCCGCCCCCCCCCTCCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100PBP_chr1_32812653_32863875	32824827	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0280 a0001c0001t0008g0280	1	340	0.0029	30	c.-11 others(47): Show c.-119-467_-119-466insTATATATATATATATATATATATATATA TA	S100PBP	ENSG00000116497.18	transcript	ENST00000373475.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAA1_chr11_18261264_18274967	18264773	A A	AGAGGGGA others(23): Show AGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	442	0.0023	30	c.-15 others(41): Show c.-1528_-1527insGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG	SAA1	ENSG00000173432.13	transcript	ENST00000356524.9	protein_coding		1490		chr11	TogoVar
SAAL1_chr11_18075292_18111082	18076631	A A	AAAAAAGA others(23): Show AAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0017 a0004c0004t0001g0017	1	284	0.0035	30	c.37 others(41): Show c.3767_*3768insCTTTCTTTCTTTCTTTCTTTCTTTCTTTTT	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding		3660		chr11	TogoVar

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