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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⚠️ 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
SCFD2_chr4_52867982_53371061	53007305	G G	GAGAGAGA others(12): Show GAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0120 a0001c0003t0005g0120	1	162	0.0062	19	c.156 others(40): Show c.1562-86436_1562-86435insTCTCTCTCTCTCTCTCTCT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51704250	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	402	0.0025	19	c.120 others(38): Show c.1207+3007_1207+3025dupATATATATATATATATATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1D1_chr11_62185216_62198539	62196466	T T	TATTATTA others(12): Show TATTATTATTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	424	0.0024	19	c.30 others(30): Show c.3038_*3039insATTATTATTATTATTATTA	SCGB1D1	ENSG00000168515.3	transcript	ENST00000306238.3	protein_coding		2928		chr11	TogoVar
SCGB1D2_chr11_62237239_62249812	62237809	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0008 a0002c0003t0002g0008	1	436	0.0023	19	c.-44 others(30): Show c.-4499_-4498insTGTGTGTGTGTGTGTGTGT	SCGB1D2	ENSG00000124935.4	transcript	ENST00000244926.4	protein_coding		4429		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62272042	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	390	0.0026	19	c.244 others(34): Show c.244-912_244-894dupAAAAAAAAAAAAAAAAAAA	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGN_chr6_25647215_25706783	25668700	A A	AGATATAC others(12): Show AGATATACTTGGGACAGGCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02922.hp2 HG02970.hp1 HG02486.hp2 HG02922.hp2 HG02970.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0005 a0001c0001t0009 a0004c0005t0011 a0001c0001t0005 a0001c0001t0009 a0004c0005t0011	a0001c0001t0005g0263 a0001c0001t0009g0262 a0004c0005t0011g0264 a0001c0001t0005g0263 a0001c0001t0009g0262 a0004c0005t0011g0264	3	368	0.0082	19	c.337 others(34): Show c.337-809_337-808insTATACTTGGGACAGGCTGA	SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCHIP1_chr3_159268244_159902359	159668376	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19043.hp1 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0094 a0001c0001t0001g0036 a0001c0001t0001g0094	2	100	0.0200	19	c.64- others(36): Show c.64-96065_64-96047dupAAAAAAAAAAAAAAAAAAA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159843001	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	100	0.0100	19	c.760 others(38): Show c.760-23152_760-23134dupTTTTTTTTTTTTTTTTTTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIN_chr7_12565720_12665182	12657572	A A	ATATATAT others(12): Show ATATATATATATATATATTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0234 a0002c0002t0234	a0002c0002t0234g0330 a0002c0002t0234g0330	1	372	0.0027	19	c.48 others(30): Show c.4858_*4859insATATATATATATATATTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657572	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp1 HG02015.hp1 HG02735.hp1 HG00642.hp1 HG02015.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0070 a0002c0002t0220 a0002c0002t0238 a0002c0002t0070 a0002c0002t0220 a0002c0002t0238	a0002c0002t0070g0353 a0002c0002t0220g0325 a0002c0002t0238g0240 a0002c0002t0070g0353 a0002c0002t0220g0325 a0002c0002t0238g0240	3	372	0.0081	19	c.48 others(30): Show c.4858_*4859insATATATATATATATTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657572	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0071 a0002c0002t0071	a0002c0002t0071g0290 a0002c0002t0071g0290	1	372	0.0027	19	c.48 others(30): Show c.4858_*4859insATATATATATTTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657572	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0086 a0002c0002t0086	a0002c0002t0086g0321 a0002c0002t0086g0321	1	372	0.0027	19	c.48 others(30): Show c.4858_*4859insATATATATTTTTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCMH1_chr1_41022202_41247306	41087937	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	304	0.0033	19	c.746 others(38): Show c.746-12487_746-12486insACACACACACACACACACA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	8/15			chr1	TogoVar
SCMH1_chr1_41022202_41247306	41089787	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03017.hp2 HG02698.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0077 a0001c0001t0002g0081	2	304	0.0066	19	c.746 others(38): Show c.746-14355_746-14337dupAAAAAAAAAAAAAAAAAAA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	8/15			chr1	TogoVar
SCMH1_chr1_41022202_41247306	41244447	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0267 a0001c0001t0004g0267	1	304	0.0033	19	c.-25 others(30): Show c.-2507_-2506insAAAAAAAAAAAAAAAAAAA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding		2142		chr1	TogoVar
SCML4_chr6_107697154_107829313	107751572	A A	ACTTTCTT others(12): Show ACTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0181 a0001c0005t0005g0181	1	250	0.0040	19	c.157 others(36): Show c.157-1760_157-1759insAAGAAAGAAAGAAAGAAAG	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	2/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107751572	A A	ATCTTCTT others(12): Show ATCTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	250	0.0040	19	c.157 others(36): Show c.157-1760_157-1759insAAGAAAGAAAGAAAGAAGA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	2/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0009 a0002c0006t0009	a0002c0006t0009g0030 a0002c0006t0009g0030	1	250	0.0040	19	c.-59 others(36): Show c.-59-5837_-59-5836insATATATTTTTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0133 a0001c0003t0012g0133	1	250	0.0040	19	c.-59 others(36): Show c.-59-5837_-59-5836insATATATATATATATTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38736963	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02683.hp1 HG02622.hp2 HG02683.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0001 a0001c0006t0002 a0001c0004t0001 a0001c0006t0002	a0001c0004t0001g0110 a0001c0006t0002g0013 a0001c0004t0001g0110 a0001c0006t0002g0013	2	372	0.0054	19	c.228 others(38): Show c.2280+2533_2280+2551dupAAAAAAAAAAAAAAAAAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38737792	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0101 a0001c0004t0001g0101	1	372	0.0027	19	c.228 others(38): Show c.2280+1722_2280+1723insAAAGAAAGAAAGAAAGAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166123223	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0293 a0001c0001t0024g0293	1	356	0.0028	19	c.-14 others(38): Show c.-142+3682_-142+3700dupTTTTTTTTTTTTTTTTTTT	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165392742	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0133 a0001c0007t0002g0133	1	358	0.0028	19	c.29 others(30): Show c.2918_*2919insAAAAAAAAAAAAAAAAAAA	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding		439		chr2	TogoVar
SCN5A_chr3_38543062_38654687	38555105	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19088.hp1 HG01884.hp1 NA19088.hp1	a0002 a0004 a0002 a0004	a0002c0006 a0004c0011 a0002c0006 a0004c0011	a0002c0006t0003 a0004c0011t0001 a0002c0006t0003 a0004c0011t0001	a0002c0006t0003g0234 a0004c0011t0001g0030 a0002c0006t0003g0234 a0004c0011t0001g0030	2	340	0.0059	19	c.454 others(36): Show c.4542+550_4542+551insAAAAAAAAAAAAATATATA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38555105	A A	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0298 a0001c0003t0003g0298	1	340	0.0029	19	c.454 others(36): Show c.4542+550_4542+551insAAAAAAAAAAAAAAATATA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN7A_chr2_166398573_166499249	166414002	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0138 a0003c0003t0001g0138	1	394	0.0025	19	c.341 others(36): Show c.3415-882_3415-881insTATATATATATATATATAT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166199975	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA19082.hp2 HG01993.hp1 NA19082.hp2	a0001 a0001	a0001c0005 a0001c0017 a0001c0005 a0001c0017	a0001c0005t0001 a0001c0017t0001 a0001c0005t0001 a0001c0017t0001	a0001c0005t0001g0223 a0001c0017t0001g0130 a0001c0005t0001g0223 a0001c0017t0001g0130	2	296	0.0068	19	c.477 others(36): Show c.4775-130_4775-112dupAAAAAAAAAAAAAAAAAAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23343656	A A	AAAGAAAG others(12): Show AAAGAAAGAAAAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	306	0.0033	19	c.-8- others(34): Show c.-8-4933_-8-4932insAAAGAAAAAAGAAAGGAAG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23365617	G G	GAGAGAGA others(12): Show GAGAGAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02165.hp1 NA18954.hp1 others(3): Show HG02027.hp2 HG02165.hp1 NA18954.hp1 NA18966.hp2 NA18980.hp1 NA19066.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0043 others(3): Show a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0061 a0001c0001t0001g0179 a0007c0010t0001g0127	6	306	0.0196	19	c.777 others(36): Show c.777-2238_777-2237insGAGAGAAAGAAAGAAAGAA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23377597	T T	TCCTTCCT others(12): Show TCCTTCCTCCCTCCCTTCTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01106.hp1 HG00738.hp2 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0188 a0001c0001t0001g0054 a0001c0001t0001g0188	2	306	0.0065	19	c.140 others(36): Show c.1404+218_1404+219insCCCTCCCTTCTCCCTTCCT	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1288024	C C	CCTACACC others(12): Show CCTACACCAGGCAGGTGAGG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0020 a0020	a0020c0030 a0020c0030	a0020c0030t0002 a0020c0030t0002	a0020c0030t0002g0103 a0020c0030t0002g0103	1	290	0.0035	19	c.165 others(30): Show c.1652_1662+8dupACACCAGGCAGGTGAGGCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1293740	C C	CCCTGGAG others(12): Show CCCTGGAGGCCCCGCCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0002 a0002c0003t0005g0002	1	290	0.0035	19	c.21 others(30): Show c.2130_*2131insCCTGGAGGCCCCGCCCCTG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding		1716		chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23180597	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01074.hp2 HG01934.hp1 others(5): Show HG00733.hp1 HG01074.hp2 HG01934.hp1 HG02109.hp2 HG02257.hp2 HG03486.hp1 NA18987.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0027 a0001c0001t0001g0064 a0001c0001t0001g0122 others(5): Show a0001c0001t0001g0027 a0001c0001t0001g0064 a0001c0001t0001g0122 a0001c0001t0001g0180 a0001c0003t0002g0138 a0001c0003t0002g0140 a0001c0003t0002g0171 a0001c0003t0002g0243	8	320	0.0250	19	c.-22 others(30): Show c.-2261_-2260insAAAAAAAAAAAAAAAAAAA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding		2147		chr16	TogoVar
SCP2_chr1_52922276_53056698	52987006	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0117 a0001c0002t0002g0117	1	280	0.0036	19	c.974 others(36): Show c.974-1022_974-1021insATATATATATATATATATT	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	52987007	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	280	0.0036	19	c.974 others(36): Show c.974-1022_974-1021insATATATATATATATATATA	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	10/15			chr1	TogoVar
SCRG1_chr4_173379701_173404116	173399491	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA19240.hp1 NA18965.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0019 a0001c0001t0003g0120 a0001c0001t0002g0019 a0001c0001t0003g0120	2	380	0.0053	19	c.-43 others(28): Show c.-439_-438insCACACACACACACACACAC	SCRG1	ENSG00000164106.8	transcript	ENST00000296506.8	protein_coding		376		chr4	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0205 a0003c0003t0005g0205	1	358	0.0028	19	c.120 others(36): Show c.1208-967_1208-966insAAATATATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0020 a0005c0005t0020	a0005c0005t0020g0072 a0005c0005t0020g0072	1	358	0.0028	19	c.120 others(36): Show c.1208-967_1208-966insAAAAAAATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0197 a0003c0003t0005g0197	1	358	0.0028	19	c.120 others(36): Show c.1208-967_1208-966insAAAAAAAAATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054726	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0011 a0007c0007t0011	a0007c0007t0011g0309 a0007c0007t0011g0309	1	358	0.0028	19	c.120 others(36): Show c.1208-968_1208-967insTATATATATATATATATAT	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE3_chr6_35208956_35258079	35226480	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01243.hp2 HG01978.hp1 others(8): Show HG00438.hp2 HG01243.hp2 HG01978.hp1 HG02074.hp1 HG02083.hp2 HG03710.hp1 NA18952.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0011 a0004c0004 a0001c0001 a0001c0011 a0004c0004	a0001c0001t0002 a0001c0001t0017 a0001c0011t0002 others(1): Show a0001c0001t0002 a0001c0001t0017 a0001c0011t0002 a0004c0004t0051	a0001c0001t0002g0182 a0001c0001t0002g0192 a0001c0001t0002g0198 others(8): Show a0001c0001t0002g0182 a0001c0001t0002g0192 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0219 a0001c0001t0017g0216 a0001c0011t0002g0188 a0004c0004t0051g0064	11	290	0.0379	19	c.86- others(34): Show c.86-1096_86-1078dupTTTTTTTTTTTTTTTTTTT	SCUBE3	ENSG00000146197.9	transcript	ENST00000274938.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCYGR1_chr2_227382683_227392949	227389894	T T	TTTTCTTT others(12): Show TTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02280.hp1 others(17): Show HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02896.hp1 HG03471.hp1 NA18522.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18975.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA19004.hp1 NA19005.hp1 NA19010.hp1 NA19082.hp2 NA19085.hp2 NA19090.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	20	454	0.0441	19	c.-19 others(30): Show c.-1946_-1945insGAAAAGAAAAGAAAAGAAA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		1946		chr2	TogoVar
SCYGR3_chr2_227609538_227619840	227610047	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01123.hp1 HG01934.hp2 others(11): Show HG00733.hp2 HG01123.hp1 HG01934.hp2 HG01952.hp2 HG02004.hp2 HG02293.hp1 HG02738.hp1 HG03669.hp1 HG03942.hp1 HG04199.hp1 NA18956.hp2 NA18963.hp2 NA19060.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0000 a0001c0002t0000 a0002c0003t0000 a0001c0001t0000 a0001c0002t0000 a0002c0003t0000	a0001c0001t0000g0000 a0001c0002t0000g0000 a0002c0003t0000g0000 a0001c0001t0000g0000 a0001c0002t0000g0000 a0002c0003t0000g0000	14	462	0.0303	19	c.44 others(30): Show c.4490_*4491insTTTTTTTTTTTTTTTTTTT	SCYGR3	ENSG00000284704.1	transcript	ENST00000642029.1	protein_coding		4490		chr2	TogoVar
SCYL2_chr12_100262177_100346715	100281019	G G	GTTTTGTT others(12): Show GTTTTGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0015 a0001c0002t0003g0015	1	220	0.0046	19	c.-28 others(36): Show c.-28-1920_-28-1919insGTTTTTTTTTTTTTTTTTT	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCYL3_chr1_169844631_169898896	169850980	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0119	a0001c0001t0119g0089 a0001c0001t0119g0089	1	418	0.0024	19	c.27 others(30): Show c.2714_*2732dupAAAAAAAAAAAAAAAAAAA	SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13	2732		chr1	TogoVar
SCYL3_chr1_169844631_169898896	169851045	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0268 a0001c0001t0091g0268	1	418	0.0024	19	c.26 others(30): Show c.2649_*2667dupAAAAAAAAAAAAAAAAAAA	SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13	2667		chr1	TogoVar
SDAD1_chr4_75944915_75995945	75978982	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18945.hp1 NA18940.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0276 a0001c0001t0003g0150 a0001c0001t0003g0276	2	376	0.0053	19	c.295 others(36): Show c.295-1245_295-1227dupTTTTTTTTTTTTTTTTTTT	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding	3/21			chr4	TogoVar
SDAD1_chr4_75944915_75995945	75984778	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0110 a0003c0004t0003g0110	1	376	0.0027	19	c.91- others(34): Show c.91-2742_91-2741insGTGTGTGTGTGTGTGTGTG	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding	1/21			chr4	TogoVar
SDAD1_chr4_75944915_75995945	75994039	A A	ATATATAT others(12): Show ATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0280 a0004c0006t0002g0280	1	376	0.0027	19	c.-31 others(30): Show c.-3199_-3198insATATATATATATATATATA	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding		3095		chr4	TogoVar
SDAD1_chr4_75944915_75995945	75994045	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	376	0.0027	19	c.-32 others(30): Show c.-3205_-3204insATATATATATATATTTTTT	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding		3101		chr4	TogoVar

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