Joint Open Genome and Omics Platform (JoGo)

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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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
RYR2_chr1_237037184_237838988	237350591	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp2 HG02257.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0031 a0001c0005t0034 a0001c0002t0031 a0001c0005t0034	a0001c0002t0031g0033 a0001c0005t0034g0028 a0001c0002t0031g0033 a0001c0005t0034g0028	2	100	0.0200	-27	c.274 others(44): Show c.274-5372_274-5346delAAAAAAAAAAATATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33336443	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0101 a0001c0101	a0001c0101t0001 a0001c0101t0001	a0001c0101t0001g0128 a0001c0101t0001g0128	1	154	0.0065	-27	c.51+ others(44): Show c.51+25348_51+25374delGAGAGAGAGAGAGAGAGAGAGAGAGAG	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103			chr15	TogoVar
RYR3_chr15_33305967_33871102	33336447	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG02630.hp1 others(2): Show HG00642.hp2 HG01070.hp2 HG02630.hp1 HG03130.hp1 NA20300.hp2	a0002 a0003 a0011 others(1): Show a0002 a0003 a0011 a0034	a0002c0091 a0002c0092 a0003c0106 others(2): Show a0002c0091 a0002c0092 a0003c0106 a0011c0017 a0034c0102	a0002c0091t0003 a0002c0092t0002 a0003c0106t0002 others(2): Show a0002c0091t0003 a0002c0092t0002 a0003c0106t0002 a0011c0017t0012 a0034c0102t0001	a0002c0091t0003g0154 a0002c0092t0002g0144 a0003c0106t0002g0080 others(2): Show a0002c0091t0003g0154 a0002c0092t0002g0144 a0003c0106t0002g0080 a0011c0017t0012g0079 a0034c0102t0001g0078	5	154	0.0325	-27	c.51+ others(44): Show c.51+25352_51+25378delGAGAGAGAGAGAGAGAGAGAGAGAGAG	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103			chr15	TogoVar
SAMD11_chr1_918923_949574	934261	GGGGAGGC others(20): Show GGGGAGGCGGCTGCGTTACAGGTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0271 a0004c0008t0002g0271	1	434	0.0023	-27	c.843 others(44): Show c.843-1507_843-1481delAGGCGGCTGCGTTACAGGTGGGCAGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934765	GGGGAGGC others(20): Show GGGGAGGCGGCTGCGTTACAGGTGGGCA	G G	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0014 a0014	a0014c0027 a0014c0027	a0014c0027t0004 a0014c0027t0004	a0014c0027t0004g0231 a0014c0027t0004g0231	1	434	0.0023	-27	c.843 others(43): Show c.843-1003_843-977delAGGCGGCTGCGTTACAGGTGGGCAGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD12_chr8_118372984_118626963	118392811	CCTCTACC others(20): Show CCTCTACCTACTAGATGACAATAATACT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	188	0.0053	-27	c.323 others(46): Show c.323-13138_323-13112delAGTATTATTGTCATCTAGTAGGTAGA G	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	3/3			chr8	TogoVar
SAMD15_chr14_77372379_77397163	77372907	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0116 a0002c0002t0002g0116	1	314	0.0032	-27	c.-45 others(38): Show c.-4511_-4485delATATATATATATATATATATATATATA	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4471		chr14	TogoVar
SAMD15_chr14_77372379_77397163	77372926	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG03098.hp1 NA21309.hp2 HG02630.hp2 HG03098.hp1 NA21309.hp2	a0002 a0003 a0014 a0002 a0003 a0014	a0002c0002 a0003c0003 a0014c0009 a0002c0002 a0003c0003 a0014c0009	a0002c0002t0002 a0003c0003t0003 a0014c0009t0003 a0002c0002t0002 a0003c0003t0003 a0014c0009t0003	a0002c0002t0002g0123 a0003c0003t0003g0098 a0014c0009t0003g0046 a0002c0002t0002g0123 a0003c0003t0003g0098 a0014c0009t0003g0046	3	314	0.0096	-27	c.-44 others(38): Show c.-4492_-4466delTATATATATATATATATATATATATAT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4452		chr14	TogoVar
SAMD15_chr14_77372379_77397163	77372934	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0110 a0004c0005t0006g0110	1	314	0.0032	-27	c.-44 others(38): Show c.-4484_-4458delTATATATATATATATATATTTTTTTTT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4444		chr14	TogoVar
SAMD15_chr14_77372379_77397163	77372938	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0013	1	314	0.0032	-27	c.-44 others(38): Show c.-4480_-4454delTATATATATATATATTTTTTTTTTTTT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4440		chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54678432	TTTGTGTG others(20): Show TTTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	262	0.0038	-27	c.197 others(46): Show c.197-23628_197-23602delTGTGTGTGTGTGTGTGTGTGTGTGTG T	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54727166	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01081.hp2 HG01346.hp2 others(1): Show HG01070.hp1 HG01081.hp2 HG01346.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013	a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0004g0080 others(1): Show a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0004g0080 a0001c0001t0013g0246	4	262	0.0153	-27	c.716 others(44): Show c.716-9843_716-9817delTTTTTTTTTTTTTTTTTTTTTTTTTTT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SANBR_chr2_61060871_61129280	61070660	CATAAATT others(20): Show CATAAATTTTATATATTATATATAGTAT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01993.hp2 HG02293.hp1 others(8): Show HG00733.hp1 HG01993.hp2 HG02293.hp1 HG02300.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03139.hp1 HG03225.hp2 NA19078.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0012 a0001c0001 a0009c0012	a0001c0001t0006 a0001c0001t0008 a0009c0012t0006 a0001c0001t0006 a0001c0001t0008 a0009c0012t0006	a0001c0001t0006g0033 a0001c0001t0006g0034 a0001c0001t0006g0035 others(8): Show a0001c0001t0006g0033 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0038 a0001c0001t0006g0039 a0001c0001t0008g0087 a0001c0001t0008g0088 a0001c0001t0008g0089 a0001c0001t0008g0090 a0009c0012t0006g0037	11	346	0.0318	-27	c.150 others(42): Show c.150+191_150+217delAATTTTATATATTATATATAGTATATA	SANBR	ENSG00000162929.14	transcript	ENST00000402291.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr2	TogoVar
SANBR_chr2_61060871_61129280	61090697	ATGTGTGT others(20): Show ATGTGTGTGTGGGCACAGGGTTTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	346	0.0029	-27	c.108 others(46): Show c.1089-1756_1089-1730delGGCACAGGGTTTGTGTGTGTGTGTGT G	SANBR	ENSG00000162929.14	transcript	ENST00000402291.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr2	TogoVar
SARS1_chr1_109208918_109243182	109222000	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	402	0.0025	-27	c.137 others(44): Show c.137-1976_137-1950delATATATATATTTTTTTTTTTTTTTTTT	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SASH1_chr6_148337838_148557044	148486935	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0110 a0002c0002t0003g0110	1	322	0.0031	-27	c.628 others(42): Show c.628-677_628-651delATATATATATATATATATATATATATA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SBF2_chr11_9773668_10299219	9967964	TCTCTCTC others(20): Show TCTCTCTCTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0111 a0001c0001t0003g0111	1	224	0.0045	-27	c.160 others(44): Show c.1600+350_1600+376delTATATATATATATATATATAGAGAGAG	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	14/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10254884	GAGTGAGA others(20): Show GAGTGAGACTCTGTCTCAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0205 a0001c0003t0004g0205	1	224	0.0045	-27	c.55+ others(44): Show c.55+39104_55+39130delTTTTTTTTTTTGAGACAGAGTCTCACT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBNO2_chr19_1102638_1179268	1137343	GGTGGGGG others(20): Show GGTGGGGGGAGGCTCGGGCCGGGGTGCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp1 others(147): Show HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG04115.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18983.hp1 NA18983.hp2 NA19005.hp2 NA19043.hp2 NA19057.hp2 NA19081.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(5): Show a0000 a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0000c0009 a0000c0017 a0000c0021 others(28): Show a0000c0009 a0000c0017 a0000c0021 a0000c0033 a0000c0042 a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0013 a0001c0016 a0001c0018 a0001c0025 a0001c0026 a0001c0028 a0001c0036 a0001c0037 a0001c0040 a0001c0041 a0001c0043 a0002c0003 a0002c0008 a0003c0012 a0004c0039 a0005c0022 a0006c0029 a0007c0027	a0000c0009t0001 a0000c0009t0003 a0000c0017t0001 others(39): Show a0000c0009t0001 a0000c0009t0003 a0000c0017t0001 a0000c0021t0001 a0000c0033t0002 a0000c0042t0001 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0002t0012 a0001c0004t0001 a0001c0004t0011 a0001c0005t0001 a0001c0006t0001 a0001c0006t0006 a0001c0006t0009 a0001c0007t0001 a0001c0010t0001 a0001c0011t0001 a0001c0013t0001 a0001c0016t0001 a0001c0016t0005 a0001c0018t0001 a0001c0025t0001 a0001c0026t0001 a0001c0028t0001 a0001c0036t0001 a0001c0037t0001 a0001c0040t0001 a0001c0041t0010 a0001c0043t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0002c0008t0001 a0003c0012t0002 a0004c0039t0001 a0005c0022t0001 a0006c0029t0005 a0007c0027t0001	a0000c0009t0001g0053 a0000c0009t0001g0152 a0000c0009t0001g0169 others(147): Show a0000c0009t0001g0053 a0000c0009t0001g0152 a0000c0009t0001g0169 a0000c0009t0001g0172 a0000c0009t0003g0171 a0000c0017t0001g0064 a0000c0017t0001g0086 a0000c0021t0001g0042 a0000c0033t0002g0106 a0000c0042t0001g0124 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0003g0175 a0001c0001t0008g0114 a0001c0002t0001g0004 a0001c0002t0001g0008 a0001c0002t0001g0018 a0001c0002t0001g0040 a0001c0002t0001g0044 a0001c0002t0001g0066 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0109 a0001c0002t0001g0111 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0132 a0001c0002t0001g0140 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0002t0001g0167 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0201 a0001c0002t0001g0203 a0001c0002t0012g0186 a0001c0004t0001g0001 a0001c0004t0001g0036 a0001c0004t0001g0038 a0001c0004t0001g0046 a0001c0004t0001g0048 a0001c0004t0001g0058 a0001c0004t0001g0061 a0001c0004t0001g0074 a0001c0004t0001g0092 a0001c0004t0001g0159 a0001c0004t0001g0187 a0001c0004t0001g0188 a0001c0004t0011g0194 a0001c0005t0001g0160 a0001c0006t0001g0013 a0001c0006t0001g0039 a0001c0006t0001g0056 a0001c0006t0001g0180 a0001c0006t0006g0131 a0001c0006t0009g0012 a0001c0007t0001g0011 a0001c0007t0001g0105 a0001c0007t0001g0150 a0001c0007t0001g0177 a0001c0010t0001g0181 a0001c0011t0001g0037 a0001c0011t0001g0060 a0001c0011t0001g0107 a0001c0013t0001g0054 a0001c0013t0001g0080 a0001c0013t0001g0087 a0001c0013t0001g0108 a0001c0013t0001g0183 a0001c0016t0001g0115 a0001c0016t0005g0030 a0001c0018t0001g0154 a0001c0025t0001g0063 a0001c0026t0001g0200 a0001c0028t0001g0192 a0001c0036t0001g0138 a0001c0037t0001g0202 a0001c0040t0001g0139 a0001c0041t0010g0082 a0001c0043t0001g0184 a0002c0003t0001g0009 a0002c0003t0001g0010 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0041 a0002c0003t0001g0052 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0093 a0002c0003t0001g0097 a0002c0003t0001g0127 a0002c0003t0001g0161 a0002c0003t0003g0027 a0002c0003t0004g0119 a0002c0003t0006g0031 a0002c0008t0001g0047 a0002c0008t0001g0091 a0002c0008t0001g0094 a0002c0008t0001g0136 a0003c0012t0002g0059 a0003c0012t0002g0062 a0004c0039t0001g0137 a0005c0022t0001g0095 a0006c0029t0005g0033 a0007c0027t0001g0173	150	203	0.7389	-27	c.280 others(44): Show c.280-9605_280-9579delTGCACCCCGGCCCGAGCCTCCCCCCAC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1137370	AGTGGGGG others(20): Show AGTGGGGGGAGGCTCGGGCCGGGGTGCG	A A	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0120 a0002c0003t0004g0120	1	203	0.0049	-27	c.280 others(44): Show c.280-9632_280-9606delCGCACCCCGGCCCGAGCCTCCCCCCAC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1137511	CTCGGGCT others(20): Show CTCGGGCTGGGGTGCGGTGGGGGGAGGT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0089 a0001c0006t0001g0089	1	203	0.0049	-27	c.279 others(44): Show c.279+9771_280-9747delACCTCCCCCCACCGCACCCCAGCCCGA	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1137538	TTCGGGCT others(20): Show TTCGGGCTGGGGTGCGGTGGGGGGAGGC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0012 a0001c0006t0009g0012	1	203	0.0049	-27	c.279 others(44): Show c.279+9744_279+9770delGCCTCCCCCCACCGCACCCCAGCCCGA	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1137607	GGTGGGGG others(20): Show GGTGGGGGGAGGCTCGGGCTGGGGTGCA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01891.hp2 HG02647.hp1 others(5): Show HG00597.hp2 HG01891.hp2 HG02647.hp1 HG02922.hp2 HG02965.hp2 HG03139.hp1 NA18522.hp2 NA19240.hp2	a0000 a0001 a0000 a0001	a0000c0009 a0000c0021 a0001c0004 a0000c0009 a0000c0021 a0001c0004	a0000c0009t0003 a0000c0021t0001 a0001c0004t0001 others(1): Show a0000c0009t0003 a0000c0021t0001 a0001c0004t0001 a0001c0004t0011	a0000c0009t0003g0171 a0000c0021t0001g0042 a0001c0004t0001g0046 others(5): Show a0000c0009t0003g0171 a0000c0021t0001g0042 a0001c0004t0001g0046 a0001c0004t0001g0092 a0001c0004t0001g0159 a0001c0004t0001g0187 a0001c0004t0001g0188 a0001c0004t0011g0194	8	203	0.0394	-27	c.279 others(44): Show c.279+9675_279+9701delTGCACCCCAGCCCGAGCCTCCCCCCAC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1137706	CTGGGGGG others(20): Show CTGGGGGGAGGCTCGGGCTGGGGTGCGG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	203	0.0049	-27	c.279 others(44): Show c.279+9576_279+9602delCCGCACCCCAGCCCGAGCCTCCCCCCA	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1137938	GGTGGGGG others(20): Show GGTGGGGGGAGGCTCGGGCTGGGGTGCA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01106.hp1 HG01975.hp2 others(4): Show HG00733.hp1 HG01106.hp1 HG01975.hp2 HG02109.hp2 NA19043.hp2 NA19081.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0002c0003t0001	a0001c0001t0001g0050 a0001c0002t0001g0018 a0001c0002t0001g0044 others(4): Show a0001c0001t0001g0050 a0001c0002t0001g0018 a0001c0002t0001g0044 a0001c0002t0001g0111 a0001c0002t0001g0126 a0001c0006t0001g0056 a0002c0003t0001g0052	7	203	0.0345	-27	c.279 others(44): Show c.279+9344_279+9370delTGCACCCCAGCCCGAGCCTCCCCCCAC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1138010	CTGGGGGG others(20): Show CTGGGGGGAGGCTCGGGCTGGGGTGCGG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp2 HG01884.hp1 others(5): Show HG00621.hp1 HG00673.hp2 HG01884.hp1 HG01975.hp1 NA18969.hp1 NA19057.hp2 NA19088.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0037 others(1): Show a0001c0001 a0001c0002 a0001c0037 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0037t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0037t0001 a0002c0008t0001	a0001c0001t0001g0055 a0001c0001t0001g0134 a0001c0001t0001g0163 others(5): Show a0001c0001t0001g0055 a0001c0001t0001g0134 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0002t0001g0140 a0001c0037t0001g0202 a0002c0008t0001g0136	8	203	0.0394	-27	c.279 others(44): Show c.279+9272_279+9298delCCGCACCCCAGCCCGAGCCTCCCCCCA	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SCAF4_chr21_31666000_31737118	31735263	GAAAAAAA others(20): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0192 a0001c0001t0004g0192	1	352	0.0028	-27	c.-35 others(38): Show c.-3598_-3572delTTTTTTTTTTTTTTTTTTTTTTTTTTT	SCAF4	ENSG00000156304.15	transcript	ENST00000286835.12	protein_coding		3146		chr21	TogoVar
SCAI_chr9_124937608_125148528	125004757	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02074.hp2 NA19002.hp2 HG01361.hp1 HG02074.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0044 a0001c0001t0005 a0001c0001t0044	a0001c0001t0005g0283 a0001c0001t0005g0285 a0001c0001t0044g0302 a0001c0001t0005g0283 a0001c0001t0005g0285 a0001c0001t0044g0302	3	306	0.0098	-27	c.862 others(44): Show c.862-1214_862-1188delAAAAATATATATATATATATATATATA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125004759	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0301 a0001c0001t0005g0301	1	306	0.0033	-27	c.862 others(44): Show c.862-1216_862-1190delAAAAAAATATATATATATATATATATA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78469890	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAACAAAA	T T	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0273 a0001c0001t0003g0273	1	332	0.0030	-27	c.853 others(44): Show c.853-5598_853-5572delAAAAAAACAAAAAAAAAAAAAAAAAAA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78469909	AAAACAAA others(20): Show AAAACAAAAAAAAAAAAAAAAAAACAAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00597.hp2 others(60): Show HG00280.hp1 HG00408.hp2 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02145.hp2 HG02155.hp1 HG02273.hp1 HG02809.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03831.hp1 HG04184.hp1 HG04204.hp1 NA18945.hp2 NA18949.hp2 NA18953.hp1 NA18959.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19057.hp1 NA19064.hp2 NA19076.hp2 NA19081.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0018 others(5): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0018 a0001c0001t0025 a0001c0001t0029 a0001c0001t0038 a0001c0001t0039 a0001c0001t0042	a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0265 others(60): Show a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0265 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0301 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0319 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0014g0293 a0001c0001t0014g0302 a0001c0001t0014g0310 a0001c0001t0018g0139 a0001c0001t0018g0140 a0001c0001t0025g0138 a0001c0001t0029g0161 a0001c0001t0038g0292 a0001c0001t0039g0317 a0001c0001t0042g0300	63	332	0.1898	-27	c.853 others(44): Show c.853-5592_853-5566delACAAAAAAAAAAAAAAAAAAACAACAA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP2_chr15_74838730_74878365	74874652	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	386	0.0026	-27	c.-14 others(38): Show c.-1424_-1398delATATATATATATATATATTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1288		chr15	TogoVar
SCAMP4_chr19_1900399_1931013	1909571	TTCACCTG others(20): Show TTCACCTGTGCCAGCAGCAGGGATGTCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00544.hp1 others(101): Show HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01192.hp1 HG01256.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02074.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03490.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp2 NA18986.hp2 NA19000.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19054.hp1 NA19055.hp1 NA19058.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19078.hp1 NA19081.hp1 NA19091.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0003t0001 a0001c0003t0009 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(93): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0176 a0001c0001t0001g0195 a0001c0001t0001g0403 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0034 a0001c0001t0002g0044 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0062 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0002g0080 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0003g0009 a0001c0001t0003g0043 a0001c0001t0003g0087 a0001c0001t0003g0095 a0001c0001t0004g0156 a0001c0001t0005g0136 a0001c0001t0006g0137 a0001c0001t0006g0155 a0001c0001t0006g0169 a0001c0001t0009g0174 a0001c0001t0009g0175 a0001c0001t0010g0008 a0001c0001t0010g0081 a0001c0001t0011g0071 a0001c0001t0012g0040 a0001c0001t0012g0041 a0001c0001t0017g0066 a0001c0001t0017g0079 a0001c0001t0018g0067 a0001c0001t0021g0050 a0001c0001t0024g0108 a0001c0001t0027g0035 a0001c0001t0029g0065 a0001c0001t0030g0096 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0009g0180 a0002c0002t0001g0057	104	442	0.2353	-27	c.-42 others(44): Show c.-42+4147_-42+4173delAGCAGGGATGTCCTCACCTGTGCCAGC	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SCFD2_chr4_52867982_53371061	53060720	GTTGTTTT others(20): Show GTTGTTTTTGAAAGTATAATTAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	162	0.0062	-27	c.156 others(48): Show c.1561+84586_1561+84612delTTTTTTTAATTATACTTTCAAAAA CAA	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53265438	TTTTTACT others(20): Show TTTTTACTTTTATTCTAGATTTTAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	162	0.0062	-27	c.131 others(46): Show c.1311+8361_1311+8387delTTTTTAAAATCTAGAATAAAAGTAAA A	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51709677	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0264 a0003c0004t0001g0264	1	402	0.0025	-27	c.120 others(46): Show c.1208-3654_1208-3628delATATATATATATATATATATATATTT T	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51709683	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0072 a0001c0001t0005g0072	1	402	0.0025	-27	c.120 others(46): Show c.1208-3648_1208-3622delATATATATATATATATATTTTTTTTT T	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1A1_chr11_62414033_62428195	62416220	CTTTTTGC others(20): Show CTTTTTGCTTTTTTTTGAGACGGAGTCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0084 a0001c0001t0005g0084	1	448	0.0022	-27	c.-28 others(38): Show c.-2875_-2849delTTTTTGCTTTTTTTTGAGACGGAGTCA	SCGB1A1	ENSG00000149021.7	transcript	ENST00000278282.3	protein_coding		2812		chr11	TogoVar
SCGB1C1_chr11_188078_199575	191857	CCTAACCC others(20): Show CCTAACCCCTAACCCTAACCCTAACCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0004 a0001c0005t0001g0004	1	354	0.0028	-27	c.-12 others(38): Show c.-1242_-1216delCTAACCCCTAACCCTAACCCTAACCCT	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1220		chr11	TogoVar
SCGB1C2_chr17_132569_144067	141454	AACATGGG others(20): Show AACATGGGTGGGGAGCCTTGGTGAGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01070.hp2 others(42): Show HG00639.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01516.hp2 HG01884.hp1 HG02027.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03139.hp2 HG03195.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp2 HG03834.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18940.hp2 NA18961.hp2 NA18982.hp2 NA19030.hp1 NA19030.hp2 NA19066.hp1 NA19068.hp2 NA19072.hp2 NA19079.hp2 NA19090.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0013 a0002c0002t0001g0027 a0002c0002t0001g0003 a0002c0002t0001g0013 a0002c0002t0001g0027	45	402	0.1119	-27	c.25 others(38): Show c.2513_*2539delACATGGGTGGGGAGCCTTGGTGAGGGG	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2388		chr17	TogoVar
SCGB1C2_chr17_132569_144067	141533	ACCTGGTG others(20): Show ACCTGGTGAGGGGAACATGGGTGGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG01884.hp2 HG02258.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0015 a0004c0004t0001g0015	2	402	0.0050	-27	c.25 others(38): Show c.2592_*2618delCCTGGTGAGGGGAACATGGGTGGGGAG	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2467		chr17	TogoVar
SCGN_chr6_25647215_25706783	25658002	CCTTTTTT others(20): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00544.hp1 others(29): Show HG00099.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00673.hp2 HG01106.hp1 HG01884.hp1 HG02071.hp2 HG02109.hp1 HG02486.hp2 HG02647.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03453.hp1 HG03471.hp2 HG03688.hp1 NA18948.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18984.hp2 NA18986.hp1 NA19058.hp2 NA19070.hp2 NA19079.hp2 NA19083.hp1 NA19091.hp1 NA19240.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0004c0005t0011	a0001c0001t0004g0031 a0001c0001t0004g0256 a0001c0001t0004g0265 others(26): Show a0001c0001t0004g0031 a0001c0001t0004g0256 a0001c0001t0004g0265 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0272 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0288 a0001c0001t0005g0020 a0001c0001t0005g0251 a0001c0001t0005g0263 a0001c0001t0005g0274 a0001c0001t0005g0278 a0001c0001t0005g0324 a0001c0001t0006g0271 a0001c0001t0006g0273 a0001c0001t0006g0275 a0001c0001t0006g0327 a0001c0001t0007g0004 a0001c0001t0007g0252 a0001c0001t0007g0253 a0001c0001t0007g0254 a0001c0001t0009g0262 a0004c0005t0011g0264	32	368	0.0870	-27	c.154 others(44): Show c.154-3549_154-3523delCTTTTTTTTTTTTTTTTTTTTTTTTTT	SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	2/10			chr6	TogoVar
SCGN_chr6_25647215_25706783	25658003	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0207 a0005c0007t0002g0207	1	368	0.0027	-27	c.154 others(44): Show c.154-3521_154-3495delTTTTTTTTTTTTTTTTTTTTTTTTTTT	SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCLY_chr2_238056001_238104413	238098584	CCCACATA others(20): Show CCCACATAGGACCGCCCACATAGGACCG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0122 a0001c0001t0122	a0001c0001t0122g0147 a0001c0001t0122g0147	1	392	0.0026	-27	c.23 others(36): Show c.232_*258delACATAGGACCGCCCACATAGGACCGCC	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	232	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN11A_chr3_38840764_39056944	38938526	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp1 HG00642.hp1 HG01109.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0003 a0001c0015t0003	a0001c0015t0003g0287 a0001c0015t0003g0288 a0001c0015t0003g0287 a0001c0015t0003g0288	2	314	0.0064	-27	c.488 others(44): Show c.488+6858_488+6884delAAATATATATATATATATATATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38963397	TATATATA others(20): Show TATATATATATATATATATATGATGGAG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03041.hp1 HG02615.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0273 a0001c0001t0003g0270 a0001c0001t0003g0273	2	314	0.0064	-27	c.-27 others(46): Show c.-279-3001_-279-2975delCTCCATCATATATATATATATATATA T	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	39047684	AAAAAACC others(20): Show AAAAAACCCAAATAATTTTTAAATGGGC	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0004 a0010c0023t0004	a0010c0023t0004g0039 a0010c0023t0004g0039	1	314	0.0032	-27	c.-40 others(46): Show c.-404+4150_-404+4176delGCCCATTTAAAAATTATTTGGGTTTT T	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	1/29			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38555068	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	340	0.0029	-27	c.454 others(44): Show c.4543-546_4543-520delTATATATATATATATATATATATATAT	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38555078	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0230 a0001c0004t0001g0230	1	340	0.0029	-27	c.454 others(44): Show c.4542+551_4543-530delTATATATATATATATATATATATATAT	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN8A_chr12_51586233_51817864	51721095	ATATATAT others(20): Show ATATATATATATAATATTTATTTATTGT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02886.hp2 HG02258.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0015 a0001c0010t0024 a0001c0003t0015 a0001c0010t0024	a0001c0003t0015g0115 a0001c0010t0024g0112 a0001c0003t0015g0115 a0001c0010t0024g0112	2	202	0.0099	-27	c.163 others(44): Show c.1636-440_1636-414delTAATATTTATTTATTGTTATATATATA	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr12	TogoVar

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