Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Examples: 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
SASH3_chrX_129774949_129800201	129789105	A A	AAAAGAAA others(45): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	307	0.0033	52	c.300 others(67): Show c.300+531_300+532insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAA	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SBF2_chr11_9773668_10299219	9989055	T T	TATATATA others(45): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA20752.hp2 HG00741.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0154 a0001c0003t0002g0159 a0001c0003t0002g0154 a0001c0003t0002g0159	2	224	0.0089	52	c.139 others(69): Show c.1395+441_1395+442insGTATATATATATATATATATATATATAT ATATATATATATATATATATATAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	13/39			chr11	TogoVar
SBSN_chr19_35518367_35533311	35520356	C C	CTATATAT others(45): Show CTATATATATATATATATATATATATATATATATATATATATATATATAT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0010 a0001c0003t0001g0010	1	450	0.0022	52	c.31 others(63): Show c.3153_*3154insTATATATATATATATATATATATATATATATATA TATATATATATATATATA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3010		chr19	TogoVar
SBSPON_chr8_73059543_73098172	73067589	C C	CTATATAT others(45): Show CTATATATATATATATATATATATATATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0008 a0004c0006t0008	a0004c0006t0008g0104 a0004c0006t0008g0104	1	414	0.0024	52	c.678 others(67): Show c.678-132_678-131insTATATATATATATATATATATATATATATA TATATATATATATATATATATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	C C	CTCTTTCT others(45): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	370	0.0027	52	c.-47 others(63): Show c.-4728_-4727insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCAMP5_chr15_74990563_75026495	74991042	T T	TTCTCTCT others(45): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0104 a0001c0001t0008g0104	1	370	0.0027	52	c.-46 others(63): Show c.-4680_-4679insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4520		chr15	TogoVar
SCART1_chr10_133448945_133474760	133460496	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATATATATATATATTT TTT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0098 a0003c0007t0003g0098	1	434	0.0023	52	c.196 others(69): Show c.1969+327_1969+328insATATATATATATATATATATATATATAT ATATATATATATATATATTTTTTT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCFD1_chr14_30617319_30740850	30625605	G G	GTATAGGT others(45): Show GTATAGGTATATAGGCATATAGGTATACCTATATAGGTATAGGTATATAG GCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG00733.hp1 others(70): Show HG00323.hp1 HG00621.hp2 HG00733.hp1 HG01081.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01496.hp1 HG01891.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02083.hp1 HG02145.hp2 HG02155.hp1 HG02280.hp1 HG02486.hp1 HG02615.hp1 HG02630.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp2 NA18990.hp2 NA19000.hp1 NA19001.hp2 NA19005.hp1 NA19007.hp2 NA19030.hp1 NA19055.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19070.hp2 NA19078.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0013 a0001c0001 a0001c0006 a0001c0013	a0001c0001t0001 a0001c0006t0001 a0001c0013t0001 a0001c0001t0001 a0001c0006t0001 a0001c0013t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(70): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0200 a0001c0001t0001g0327 a0001c0006t0001g0073 a0001c0006t0001g0092 a0001c0013t0001g0102	73	328	0.2226	52	c.62- others(67): Show c.62-2594_62-2593insTAGGCATATAGGTATACCTATATAGGTATA GGTATATAGGCATATAGGTATA	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCG5_chr15_32636710_32702092	32657199	G G	GTATATAT others(45): Show GTATATATATATATATATATATATATATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02735.hp2 HG01167.hp2 HG01169.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0230 a0001c0001t0002g0001 a0001c0001t0001g0230 a0001c0001t0002g0001	3	415	0.0072	52	c.226 others(71): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATATATATATATATATAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG02004.hp1 others(7): Show HG00438.hp2 HG00673.hp1 HG02004.hp1 HG02080.hp1 HG02258.hp2 NA18948.hp1 NA18986.hp2 NA19070.hp1 NA19070.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0202 others(7): Show a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0218 a0001c0001t0001g0275 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0342	10	415	0.0241	52	c.226 others(71): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATATATATATATATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATATATATATATATGT ATG	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18941.hp1 NA18967.hp2 others(5): Show HG00544.hp2 NA18941.hp1 NA18967.hp2 NA19001.hp2 NA19011.hp2 NA19065.hp1 NA19078.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 others(5): Show a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0204 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0358 a0001c0001t0001g0362	8	415	0.0193	52	c.226 others(71): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATATATATATGTATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATATATATATGTATGT ATG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0364 a0001c0001t0001g0364	1	415	0.0024	52	c.226 others(71): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATATATGTATGTATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATGTATATATATATATATAT ATG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0319 a0001c0002t0001g0319	1	415	0.0024	52	c.226 others(71): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATGTATATATATATATATATATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATGTATATATATATATATATAT ATG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	415	0.0024	52	c.226 others(71): Show c.226+13394_226+13395insATATATATATATATATATATATATAT GTATATATATATATATATATATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C2_chr17_132569_144067	141510	A A	ATGGGGAG others(45): Show ATGGGGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGG ACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG01167.hp2 HG00280.hp2 HG00733.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	3	402	0.0075	52	c.25 others(63): Show c.2568_*2569insTGGGGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGAGGACC	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2444		chr17	TogoVar
SCHIP1_chr3_159268244_159902359	159681927	G G	GGGTTAAC others(45): Show GGGTTAACTCAACGTTAACTTAGGTTAACTTGGGTTAACTCAACGTTAAC TTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03225.hp2 HG01243.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0061 a0001c0002t0001g0017 a0001c0002t0001g0061	2	100	0.0200	52	c.64- others(69): Show c.64-82508_64-82507insCAACGTTAACTTAGGTTAACTTGGGTTA ACTCAACGTTAACTTAGGTTAACT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159681933	A A	ACTCAACG others(45): Show ACTCAACGTTAACTTAGGTTAGCTTGGGTTAACTCAACGTTAACTTAGGT TAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02922.hp2 HG02630.hp1 HG02922.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0003 a0002c0003t0001g0034 a0001c0001t0001g0003 a0002c0003t0001g0034	2	100	0.0200	52	c.64- others(69): Show c.64-82508_64-82507insCAACGTTAACTTAGGTTAGCTTGGGTTA ACTCAACGTTAACTTAGGTTAGCT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCN7A_chr2_166398573_166499249	166414853	T T	TATAATAT others(45): Show TATAATATATAATACATATTTTATAGGATAATATATAATATATATTATAT AGG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG03710.hp1 HG01258.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0298 a0001c0001t0001g0299	2	394	0.0051	52	c.341 others(71): Show c.3415-1733_3415-1732insCCTATATAATATATATTATATATTAT CCTATAAAATATGTATTATATATTAT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166414853	T T	TATAATAT others(45): Show TATAATATATAATATATATTATATAGGATAATATATAATATATATTATAT AGG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02615.hp1 HG03453.hp1 others(1): Show HG02523.hp2 HG02615.hp1 HG03453.hp1 NA19001.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0013 a0004c0004t0005 a0001c0001t0013 a0004c0004t0005	a0001c0001t0013g0042 a0001c0001t0013g0080 a0004c0004t0005g0290 others(1): Show a0001c0001t0013g0042 a0001c0001t0013g0080 a0004c0004t0005g0290 a0004c0004t0005g0291	4	394	0.0102	52	c.341 others(71): Show c.3415-1733_3415-1732insCCTATATAATATATATTATATATTAT CCTATATAATATATATTATATATTAT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1288549	C C	CCGTGTCC others(45): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0267 a0001c0001t0011g0267	1	290	0.0035	52	c.166 others(69): Show c.1662+513_1662+514insGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288607	C C	CCGTGTCC others(45): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	290	0.0035	52	c.166 others(69): Show c.1662+571_1662+572insGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288607	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0045	1	290	0.0035	52	c.166 others(69): Show c.1662+571_1662+572insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288627	C C	CCGTGTCC others(45): Show CCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	290	0.0035	52	c.166 others(69): Show c.1662+591_1662+592insGTGTCCCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288627	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCC CGT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	290	0.0035	52	c.166 others(69): Show c.1662+591_1662+592insGTGTCTCTGCCCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288701	C C	CCGTGTCC others(45): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	290	0.0035	52	c.166 others(69): Show c.1662+665_1662+666insGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288813	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0038 a0002c0003t0002g0038	1	290	0.0035	52	c.166 others(69): Show c.1662+777_1662+778insGTGTCTCTGCCCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288813	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	290	0.0035	52	c.166 others(69): Show c.1662+777_1662+778insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289035	C C	CCCCGTGT others(45): Show CCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0251 a0001c0018t0001g0251	1	290	0.0035	52	c.166 others(71): Show c.1662+1002_1662+1003insTGTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289035	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTC CGT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	290	0.0035	52	c.166 others(70): Show c.1662+999_1662+1000insGTGTCTCTGCTCCGTCCCCCGTGTCTG CTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289035	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTC CGT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0102	1	290	0.0035	52	c.166 others(70): Show c.1662+999_1662+1000insGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCGTGTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289035	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0026 a0002c0003t0001g0026	1	290	0.0035	52	c.166 others(70): Show c.1662+999_1662+1000insGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289035	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	290	0.0035	52	c.166 others(70): Show c.1662+999_1662+1000insGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289073	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0018 a0002c0003t0001g0018	1	290	0.0035	52	c.166 others(71): Show c.1662+1037_1662+1038insGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289167	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	290	0.0035	52	c.166 others(71): Show c.1663-1103_1663-1102insGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289225	C C	CCCCGTGT others(45): Show CCCCGTGTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTC CGT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0251 a0001c0018t0001g0251	1	290	0.0035	52	c.166 others(71): Show c.1663-1037_1663-1036insGCTCCGTCCCCCGTGTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289263	C C	CCGTGTCC others(45): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0007 a0006c0010t0007	a0006c0010t0007g0275 a0006c0010t0007g0275	1	290	0.0035	52	c.166 others(71): Show c.1663-1007_1663-1006insGTGTCCCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289263	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	290	0.0035	52	c.166 others(71): Show c.1663-1007_1663-1006insGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289337	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	290	0.0035	52	c.166 others(69): Show c.1663-933_1663-932insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289395	C C	CCGTGTCC others(45): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0097 a0002c0003t0001g0097	1	290	0.0035	52	c.166 others(69): Show c.1663-875_1663-874insGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289671	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18967.hp1 HG02109.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0197 a0001c0001t0001g0160 a0001c0001t0001g0197	2	290	0.0069	52	c.166 others(69): Show c.1663-599_1663-598insGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289671	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0099 a0002c0003t0002g0099	1	290	0.0035	52	c.166 others(69): Show c.1663-599_1663-598insGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289727	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTC CGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	290	0.0035	52	c.166 others(69): Show c.1663-543_1663-542insGTGTCTCTGCTCCGTCCCCCGTGTCTGC TCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289727	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0061 a0002c0003t0002g0061	1	290	0.0035	52	c.166 others(69): Show c.1663-543_1663-542insGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289727	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	290	0.0035	52	c.166 others(69): Show c.1663-543_1663-542insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289747	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0091 a0002c0003t0001g0091	1	290	0.0035	52	c.166 others(69): Show c.1663-523_1663-522insGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289747	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	290	0.0035	52	c.166 others(69): Show c.1663-523_1663-522insGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289785	C C	CCGTGTCC others(45): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0073 a0007c0006t0001g0073	1	290	0.0035	52	c.166 others(69): Show c.1663-485_1663-484insGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289823	C C	CCCCGTGT others(45): Show CCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTC CGT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	290	0.0035	52	c.166 others(69): Show c.1663-439_1663-438insGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTGCTCCGTCCCGTGTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289854	C C	CCGTGTCC others(45): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	290	0.0035	52	c.166 others(69): Show c.1663-416_1663-415insGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289928	C C	CCGTGTCT others(45): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	1	290	0.0035	52	c.166 others(69): Show c.1663-342_1663-341insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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