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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SKAP1_chr17_48128442_48435214	48224058	GGAGGAGG others(23): Show GGAGGAGGAGAAGGAGGAGGAGGAGGAGGAA	G G	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	292	0.0034	-30	c.281 others(49): Show c.281-34588_281-34559delTTCCTCCTCCTCCTCCTCCTTCTCCT CCTC		SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12						chr17	TogoVar
SLA2_chr20_36607318_36651196	36609189	ACACACGC others(23): Show ACACACGCACACACGCACACACGCACACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 NA18997.hp1 HG01109.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0336 a0001c0001t0001g0137 a0001c0001t0001g0336	2	360	0.0056	-30	c.46 others(41): Show c.4647_*4676delCGTGTGTGCGTGTGTGCGTGTGTGCGTGTG		SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding					3128		chr20	TogoVar
SLAIN2_chr4_48336529_48431201	48412387	CACACACA others(23): Show CACACACACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp2 HG02300.hp2 others(2): Show HG01109.hp1 HG01255.hp2 HG02300.hp2 HG03239.hp1 HG03490.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0002 a0005c0007t0002 a0001c0001t0002 a0005c0007t0002	a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 others(2): Show a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0336 a0005c0007t0002g0309	5	348	0.0144	-30	c.136 others(49): Show c.1361-7737_1361-7708delACACACACACACACACACACACACAC ACAT		SLAIN2	ENSG00000109171.15	transcript	ENST00000264313.11	protein_coding	6/7						chr4	TogoVar
SLAMF6_chr1_160480036_160528255	160484225	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0249 a0001c0002t0001g0249	1	394	0.0025	-30	c.24 others(41): Show c.2452_*2481delAAAAAAAAAAAATATATATATATATATATA		SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding					810		chr1	TogoVar
SLAMF6_chr1_160480036_160528255	160484227	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	394	0.0025	-30	c.24 others(41): Show c.2450_*2479delAAAAAAAAAAAAAATATATATATATATATA		SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding					808		chr1	TogoVar
SLAMF6_chr1_160480036_160528255	160484229	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01993.hp1 HG02293.hp1 HG00642.hp2 HG01993.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0273 a0001c0002t0001g0281 a0001c0002t0001g0039 a0001c0002t0001g0273 a0001c0002t0001g0281	3	394	0.0076	-30	c.24 others(41): Show c.2448_*2477delAAAAAAAAAAAAAAAATATATATATATATA		SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding					806		chr1	TogoVar
SLAMF7_chr1_160734247_160759821	160751846	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	2	440	0.0046	-30	c.874 others(45): Show c.874-338_874-309delCTCTCTCTCTCTCTCTATATATATATATAT		SLAMF7	ENSG00000026751.17	transcript	ENST00000368043.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SLA_chr8_133031728_133107602	133055824	CCAGCAGC others(23): Show CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	344	0.0029	-30	c.61+ others(45): Show c.61+4246_61+4275delCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG		SLA	ENSG00000155926.14	transcript	ENST00000338087.10	protein_coding	3/8						chr8	TogoVar
SLBP_chr4_1687731_1717319	1707225	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03195.hp2 NA18947.hp1 others(1): Show HG01358.hp1 HG03195.hp2 NA18947.hp1 NA18986.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0010 a0001c0001t0001 a0002c0003t0010	a0001c0001t0001g0032 a0001c0001t0001g0177 a0002c0003t0010g0046 a0001c0001t0001g0032 a0001c0001t0001g0177 a0002c0003t0010g0046	4	376	0.0106	-30	c.177 others(47): Show c.177-3555_177-3526delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		SLBP	ENSG00000163950.13	transcript	ENST00000489418.6	protein_coding	2/7						chr4	TogoVar
SLC10A5_chr8_81688631_81700058	81694645	TACCTTCA others(23): Show TACCTTCAGAATCCCAGAGTTGAATAGTCAC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19068.hp1 NA19068.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0000 a0006c0010t0001g0000	1	426	0.0024	-30	c.298 others(37): Show c.298_327delGTGACTATTCAACTCTGGGATTCTGAAGGT	p.Val others(13): Show p.Val100_Gly109del	SLC10A5	ENSG00000253598.3	transcript	ENST00000518568.3	protein_coding	1/1	413/1428	298/1317	100/438			chr8	TogoVar
SLC12A2_chr5_128078766_128194677	128185550	TGATGATA others(23): Show TGATGATAATCAAATACCTGTAAATGGAAAA	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0224 a0001c0001t0012g0224	1	354	0.0028	-30	c.350 others(47): Show c.3503+697_3503+726delTGATAATCAAATACCTGTAAATGGAAAA GA		SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	26/26					INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070402	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03471.hp1 NA20752.hp2 HG01255.hp2 HG03471.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0006 a0002c0004 a0001c0005 a0001c0006 a0002c0004	a0001c0005t0013 a0001c0006t0001 a0002c0004t0001 a0001c0005t0013 a0001c0006t0001 a0002c0004t0001	a0001c0005t0013g0077 a0001c0006t0001g0048 a0002c0004t0001g0041 a0001c0005t0013g0077 a0001c0006t0001g0048 a0002c0004t0001g0041	3	118	0.0254	-30	c.224 others(49): Show c.2241+3201_2241+3230delCTGCATAAGTGTGATGCCCGTGTGCT GGGG		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070443	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02040.hp1 HG01255.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0001g0055 a0001c0001t0001g0069	2	118	0.0170	-30	c.224 others(49): Show c.2241+3160_2241+3189delCTGCATAAGTGTGATGCCCGTGTGCT GGGG		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070534	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0022 a0002c0004t0022	a0002c0004t0022g0087 a0002c0004t0022g0087	1	118	0.0085	-30	c.224 others(49): Show c.2241+3069_2241+3098delGCATAAGTGTGATGCCGTGTGCTGGG GGCT		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070620	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02451.hp1 NA19065.hp2 HG01517.hp2 HG02451.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0009t0006 a0002c0002t0002 a0001c0001t0001 a0001c0009t0006 a0002c0002t0002	a0001c0001t0001g0117 a0001c0009t0006g0064 a0002c0002t0002g0040 a0001c0001t0001g0117 a0001c0009t0006g0064 a0002c0002t0002g0040	3	118	0.0254	-30	c.224 others(49): Show c.2241+2983_2241+3012delCTGCATAAGTGTGATGCCCGTGTGCT GGGG		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070698	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0046 a0001c0013t0003g0046	1	118	0.0085	-30	c.224 others(49): Show c.2241+2905_2241+2934delGCATAAGTGTGATGCCGTGTGCTGGG GGCT		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070833	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGTATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01255.hp1 HG01517.hp2 others(8): Show HG00733.hp1 HG01255.hp1 HG01517.hp2 HG02451.hp1 HG02683.hp2 HG02723.hp1 HG03098.hp2 HG04204.hp1 NA18522.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0007 a0001c0009 others(5): Show a0001c0001 a0001c0007 a0001c0009 a0001c0035 a0002c0002 a0002c0004 a0006c0019 a0007c0033	a0001c0001t0001 a0001c0007t0006 a0001c0009t0006 others(5): Show a0001c0001t0001 a0001c0007t0006 a0001c0009t0006 a0001c0035t0001 a0002c0002t0002 a0002c0004t0001 a0006c0019t0009 a0007c0033t0004	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 others(8): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0094 a0001c0007t0006g0023 a0001c0009t0006g0064 a0001c0035t0001g0054 a0002c0002t0002g0040 a0002c0004t0001g0041 a0006c0019t0009g0013 a0007c0033t0004g0072	11	118	0.0932	-30	c.224 others(49): Show c.2241+2770_2241+2799delGCATAAGTGTGATACCGTGTGCTGGG GGCT		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071003	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03098.hp2 NA18954.hp2 HG02040.hp1 HG03098.hp2 NA18954.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0013 a0006c0019 a0001c0001 a0001c0013 a0006c0019	a0001c0001t0001 a0001c0013t0003 a0006c0019t0009 a0001c0001t0001 a0001c0013t0003 a0006c0019t0009	a0001c0001t0001g0069 a0001c0013t0003g0046 a0006c0019t0009g0013 a0001c0001t0001g0069 a0001c0013t0003g0046 a0006c0019t0009g0013	3	118	0.0254	-30	c.224 others(49): Show c.2241+2600_2241+2629delCTGCATAAGTGTGATGCCCGTGTGCT GGGG		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071044	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03491.hp2 HG03492.hp2 others(2): Show HG03471.hp1 HG03491.hp2 HG03492.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0005t0013 a0002c0004t0001 a0001c0001t0001 a0001c0005t0013 a0002c0004t0001	a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0052 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0005t0013g0077 a0002c0004t0001g0041	5	118	0.0424	-30	c.224 others(49): Show c.2241+2559_2241+2588delCTGCATAAGTGTGATGCCCGTGTGCT GGGG		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071122	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03491.hp2 NA20752.hp2 HG03471.hp1 HG03491.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0005t0013 a0002c0004t0001 a0001c0001t0001 a0001c0005t0013 a0002c0004t0001	a0001c0001t0001g0032 a0001c0005t0013g0077 a0002c0004t0001g0041 a0001c0001t0001g0032 a0001c0005t0013g0077 a0002c0004t0001g0041	3	118	0.0254	-30	c.224 others(49): Show c.2241+2481_2241+2510delGCATAAGTGTGATGCCGTGTGCTGGG GGCT		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071166	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02040.hp1 HG02615.hp1 HG01106.hp1 HG02040.hp1 HG02615.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0018 a0002c0024 a0001c0001 a0001c0018 a0002c0024	a0001c0001t0001 a0001c0018t0020 a0002c0024t0002 a0001c0001t0001 a0001c0018t0020 a0002c0024t0002	a0001c0001t0001g0069 a0001c0018t0020g0076 a0002c0024t0002g0060 a0001c0001t0001g0069 a0001c0018t0020g0076 a0002c0024t0002g0060	3	118	0.0254	-30	c.224 others(49): Show c.2241+2437_2241+2466delCTGCATAAGTGTGATGCCCGTGTGCT GGGG		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071204	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02698.hp2 HG01517.hp1 HG02698.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0019 a0002c0004t0022 a0001c0001t0019 a0002c0004t0022	a0001c0001t0019g0035 a0002c0004t0022g0087 a0001c0001t0019g0035 a0002c0004t0022g0087	2	118	0.0170	-30	c.224 others(49): Show c.2241+2399_2241+2428delGCATAAGTGTGATGCCGTGTGCTGGG GGCT		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071338	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	118	0.0085	-30	c.224 others(49): Show c.2241+2265_2241+2294delGCATAAGTGTGATGCCGTGTGCTGGG GGCT		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071379	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA19055.hp2 HG00639.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0007 a0001c0001t0001 a0001c0013t0007	a0001c0001t0001g0103 a0001c0013t0007g0101 a0001c0001t0001g0103 a0001c0013t0007g0101	2	118	0.0170	-30	c.224 others(49): Show c.2241+2224_2241+2253delGCATAAGTGTGATGCCGTGTGCTGGG GGCT		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071423	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02976.hp2 HG03471.hp1 others(1): Show HG02615.hp1 HG02976.hp2 HG03471.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0018 a0001c0003 a0001c0005 a0001c0018	a0001c0003t0003 a0001c0005t0013 a0001c0018t0020 a0001c0003t0003 a0001c0005t0013 a0001c0018t0020	a0001c0003t0003g0002 a0001c0003t0003g0071 a0001c0005t0013g0077 others(1): Show a0001c0003t0003g0002 a0001c0003t0003g0071 a0001c0005t0013g0077 a0001c0018t0020g0076	4	118	0.0339	-30	c.224 others(49): Show c.2241+2180_2241+2209delCTGCATAAGTGTGATGCCCGTGTGCT GGGG		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071543	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03471.hp1 NA19091.hp2 HG02723.hp2 HG03471.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0031 a0001c0001 a0001c0005 a0001c0031	a0001c0001t0023 a0001c0005t0013 a0001c0031t0003 a0001c0001t0023 a0001c0005t0013 a0001c0031t0003	a0001c0001t0023g0033 a0001c0005t0013g0077 a0001c0031t0003g0007 a0001c0001t0023g0033 a0001c0005t0013g0077 a0001c0031t0003g0007	3	118	0.0254	-30	c.224 others(49): Show c.2241+2060_2241+2089delGCATAAGTGTGATGCCGTGTGCTGGG GGCT		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071671	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp2 HG01517.hp1 others(11): Show HG00639.hp2 HG00733.hp2 HG01517.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp1 HG03710.hp2 NA18954.hp2 NA19055.hp2 NA19091.hp2 NA20752.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0013 others(4): Show a0001c0001 a0001c0003 a0001c0013 a0002c0004 a0002c0011 a0002c0034 a0006c0019	a0001c0001t0001 a0001c0001t0019 a0001c0001t0023 others(7): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0023 a0001c0003t0003 a0001c0013t0003 a0001c0013t0007 a0002c0004t0001 a0002c0011t0002 a0002c0034t0002 a0006c0019t0009	a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0056 others(11): Show a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0056 a0001c0001t0001g0103 a0001c0001t0019g0035 a0001c0001t0023g0033 a0001c0003t0003g0014 a0001c0003t0003g0071 a0001c0013t0003g0046 a0001c0013t0007g0101 a0002c0004t0001g0041 a0002c0011t0002g0030 a0002c0034t0002g0091 a0006c0019t0009g0013	14	118	0.1186	-30	c.224 others(49): Show c.2241+1932_2241+1961delCTGCATAAGTGTGATGCCCGTGTGCT GGGG		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071791	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03710.hp2 NA19091.hp2 others(1): Show HG00639.hp2 HG03710.hp2 NA19091.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0103 others(1): Show a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0103 a0001c0001t0023g0033	4	118	0.0339	-30	c.224 others(49): Show c.2241+1812_2241+1841delGCATAAGTGTGATGCCGTGTGCTGGG GGCT		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071961	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02040.hp1 HG02698.hp2 others(3): Show HG01517.hp1 HG02040.hp1 HG02698.hp2 HG03491.hp1 NA19055.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0004 a0001c0001 a0001c0013 a0002c0004	a0001c0001t0001 a0001c0001t0019 a0001c0013t0007 others(1): Show a0001c0001t0001 a0001c0001t0019 a0001c0013t0007 a0002c0004t0022	a0001c0001t0001g0011 a0001c0001t0001g0038 a0001c0001t0001g0069 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0038 a0001c0001t0001g0069 a0001c0001t0019g0035 a0001c0013t0007g0101 a0002c0004t0022g0087	6	118	0.0509	-30	c.224 others(49): Show c.2241+1642_2241+1671delCTGCATAAGTGTGATGCCCGTGTGCT GGGG		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072376	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02683.hp2 HG03209.hp2 others(4): Show HG02040.hp1 HG02683.hp2 HG03209.hp2 HG03710.hp2 NA18967.hp2 NA19011.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0006 a0001c0001t0001 a0001c0007t0006	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0056 others(4): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0007t0006g0015	7	118	0.0593	-30	c.224 others(49): Show c.2241+1227_2241+1256delGCATAAGTGTGATGCCGTGTGCTGGG GGCT		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1082000	GGGCTTCC others(23): Show GGGCTTCCCGTCTCGGGTTCTGGAAAGTCCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00733.hp1 others(33): Show HG00639.hp1 HG00639.hp2 HG00733.hp1 HG01106.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01517.hp1 HG01993.hp2 HG02040.hp1 HG02055.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03098.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp1 HG03710.hp2 HG04204.hp1 NA18943.hp2 NA18954.hp1 NA18954.hp2 NA18984.hp1 NA18984.hp2 NA19055.hp2 NA19074.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0001 a0001c0003 a0001c0005 others(8): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0013 a0001c0020 a0001c0035 a0002c0011 a0004c0027 a0006c0019 a0007c0033	a0001c0001t0001 a0001c0001t0007 a0001c0001t0019 others(14): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0019 a0001c0001t0023 a0001c0003t0003 a0001c0005t0002 a0001c0006t0001 a0001c0006t0011 a0001c0006t0021 a0001c0013t0003 a0001c0013t0007 a0001c0020t0001 a0001c0035t0001 a0002c0011t0002 a0004c0027t0004 a0006c0019t0009 a0007c0033t0004	a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0039 others(33): Show a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0112 a0001c0001t0007g0090 a0001c0001t0019g0035 a0001c0001t0023g0033 a0001c0003t0003g0071 a0001c0005t0002g0043 a0001c0005t0002g0044 a0001c0005t0002g0050 a0001c0006t0001g0048 a0001c0006t0011g0078 a0001c0006t0011g0079 a0001c0006t0021g0104 a0001c0013t0003g0046 a0001c0013t0003g0047 a0001c0013t0007g0101 a0001c0020t0001g0089 a0001c0035t0001g0054 a0002c0011t0002g0030 a0002c0011t0002g0031 a0002c0011t0002g0034 a0004c0027t0004g0029 a0006c0019t0009g0013 a0007c0033t0004g0072	36	118	0.3051	-30	c.113 others(47): Show c.1130-286_1130-257delTGGACTTTCCAGAACCCGAGACGGGAAG CC		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	8/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1082166	AGGTTCTG others(23): Show AGGTTCTGGAAAGTCCGGGCTTCCCGTCTCG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0007 a0007	a0007c0033 a0007c0033	a0007c0033t0004 a0007c0033t0004	a0007c0033t0004g0072 a0007c0033t0004g0072	1	118	0.0085	-30	c.113 others(47): Show c.1130-452_1130-423delCGAGACGGGAAGCCCGGACTTTCCAGAA CC		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	8/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1083126	ATCTCGGG others(23): Show ATCTCGGGTTCTGGGAAGTCCAGGCTTCCCG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp2 HG01106.hp1 others(26): Show HG00733.hp2 HG00741.hp2 HG01106.hp1 HG01517.hp2 HG01993.hp1 HG02071.hp1 HG02071.hp2 HG02273.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG03098.hp1 HG03195.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03927.hp1 NA18522.hp2 NA18942.hp1 NA18943.hp1 NA18967.hp1 NA18990.hp1 NA18990.hp2 NA19055.hp1 NA19065.hp1 NA19074.hp1 NA19079.hp2 NA19091.hp1 NA20752.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0002c0004 a0002c0008 others(6): Show a0002c0002 a0002c0004 a0002c0008 a0002c0012 a0002c0022 a0002c0024 a0002c0025 a0002c0034 a0008c0036	a0002c0002t0002 a0002c0002t0008 a0002c0004t0001 others(9): Show a0002c0002t0002 a0002c0002t0008 a0002c0004t0001 a0002c0004t0022 a0002c0008t0002 a0002c0012t0003 a0002c0012t0024 a0002c0022t0016 a0002c0024t0002 a0002c0025t0004 a0002c0034t0002 a0008c0036t0001	a0002c0002t0002g0040 a0002c0002t0002g0045 a0002c0002t0002g0066 others(26): Show a0002c0002t0002g0040 a0002c0002t0002g0045 a0002c0002t0002g0066 a0002c0002t0002g0068 a0002c0002t0002g0083 a0002c0002t0002g0088 a0002c0002t0002g0098 a0002c0002t0002g0102 a0002c0002t0002g0106 a0002c0002t0002g0110 a0002c0002t0008g0099 a0002c0002t0008g0100 a0002c0004t0001g0036 a0002c0004t0001g0037 a0002c0004t0001g0041 a0002c0004t0001g0070 a0002c0004t0001g0092 a0002c0004t0022g0087 a0002c0008t0002g0062 a0002c0008t0002g0063 a0002c0008t0002g0067 a0002c0012t0003g0074 a0002c0012t0003g0075 a0002c0012t0024g0073 a0002c0022t0016g0065 a0002c0024t0002g0060 a0002c0025t0004g0061 a0002c0034t0002g0091 a0008c0036t0001g0097	29	118	0.2458	-30	c.112 others(47): Show c.1129+589_1129+618delCGGGAAGCCTGGACTTCCCAGAACCCGA GA		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	8/23						chr5	TogoVar
SLC13A5_chr17_6679719_6718369	6711594	GTGTGTTT others(23): Show GTGTGTTTGTGCGTGTGTTTTTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0392 a0001c0001t0016g0392	1	454	0.0022	-30	c.102 others(47): Show c.102+1608_102+1637delAACACACACAAAAACACACGCACAAACA CA		SLC13A5	ENSG00000141485.17	transcript	ENST00000433363.7	protein_coding	1/11						chr17	TogoVar
SLC15A2_chr3_121889401_121949188	121925753	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02622.hp2 HG02895.hp1 others(4): Show HG00735.hp1 HG02622.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG03209.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0003 a0002c0002t0006g0268 a0002c0002t0006g0270 a0002c0002t0006g0003 a0002c0002t0006g0268 a0002c0002t0006g0270	7	338	0.0207	-30	c.112 others(47): Show c.1124+722_1124+751delTATATATATATATATATATATATATATA AA		SLC15A2	ENSG00000163406.11	transcript	ENST00000489711.6	protein_coding	13/21					INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC15A5_chr12_16183485_16282685	16193780	GGAGAGAG others(23): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01515.hp1 HG01884.hp1 others(10): Show HG00140.hp1 HG01515.hp1 HG01884.hp1 HG02258.hp1 HG02451.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03453.hp1 HG03540.hp1 HG03831.hp1 NA18522.hp1 NA20129.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0014 a0003c0003 a0002c0002 a0002c0014 a0003c0003	a0002c0002t0002 a0002c0002t0005 a0002c0014t0005 others(2): Show a0002c0002t0002 a0002c0002t0005 a0002c0014t0005 a0003c0003t0002 a0003c0003t0005	a0002c0002t0002g0177 a0002c0002t0005g0134 a0002c0002t0005g0135 others(10): Show a0002c0002t0002g0177 a0002c0002t0005g0134 a0002c0002t0005g0135 a0002c0002t0005g0136 a0002c0002t0005g0190 a0002c0002t0005g0199 a0002c0002t0005g0200 a0002c0002t0005g0217 a0002c0014t0005g0011 a0003c0003t0002g0257 a0003c0003t0002g0272 a0003c0003t0005g0052 a0003c0003t0005g0266	13	324	0.0401	-30	c.159 others(47): Show c.1592+535_1592+564delTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC		SLC15A5	ENSG00000188991.3	transcript	ENST00000344941.3	protein_coding	8/8						chr12	TogoVar
SLC16A7_chr12_59591029_59794841	59672030	TCGCATAT others(23): Show TCGCATATATCCGTATATATGTGTATATATC	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0035 a0001c0001t0010g0035	1	260	0.0039	-30	c.-31 others(49): Show c.-31+16781_-31+16810delCGCATATATCCGTATATATGTGTATA TATC		SLC16A7	ENSG00000118596.12	transcript	ENST00000547379.6	protein_coding	2/5						chr12	TogoVar
SLC16A9_chr10_59645764_59714850	59681486	GTATATGT others(23): Show GTATATGTATATGTATATGTATATGATGTAT	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	352	0.0028	-30	c.196 others(47): Show c.196+2580_196+2609delATACATCATATACATATACATATACATA TA		SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5						chr10	TogoVar
SLC16A9_chr10_59645764_59714850	59681732	TATGTATA others(23): Show TATGTATATGATGTATATGTATATGTATATG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG04228.hp2 NA19087.hp1 HG02572.hp2 HG04228.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0166 a0002c0002t0001g0257 a0002c0002t0001g0278 a0001c0001t0002g0166 a0002c0002t0001g0257 a0002c0002t0001g0278	3	352	0.0085	-30	c.196 others(47): Show c.196+2334_196+2363delCATATACATATACATATACATCATATAC AT		SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5						chr10	TogoVar
SLC17A6_chr11_22333381_22384503	22339060	TTTATATA others(23): Show TTTATATATATATATATGTTATATATATATG	T T	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0406 a0001c0001t0003g0406	1	450	0.0022	-30	c.86+ others(43): Show c.86+454_86+483delATATGTTATATATATATGTTATATATATAT		SLC17A6	ENSG00000091664.9	transcript	ENST00000263160.4	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC18A1_chr8_20139855_20188136	20166302	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0280 a0002c0001t0002g0280	1	434	0.0023	-30	c.859 others(47): Show c.859-1225_859-1196delGTATATATATATATATATATATATATAT AT		SLC18A1	ENSG00000036565.15	transcript	ENST00000276373.10	protein_coding	8/15						chr8	TogoVar
SLC19A2_chr1_169458909_169490944	169479000	TGAGAACA others(23): Show TGAGAACAACTGCCTTATAGGCTTTTTAAGG	T T	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	386	0.0026	-30	c.205 others(47): Show c.205-1273_205-1244delCCTTAAAAAGCCTATAAGGCAGTTGTTC TC		SLC19A2	ENSG00000117479.15	transcript	ENST00000236137.10	protein_coding	1/5						chr1	TogoVar
SLC1A2_chr11_35246205_35424558	35334814	ATTTTGTT others(23): Show ATTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG02280.hp2 others(11): Show HG01243.hp2 HG02145.hp2 HG02280.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 others(8): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 a0001c0001t0026 a0001c0001t0036 a0001c0001t0049 a0001c0001t0080 a0001c0003t0024 a0001c0003t0083 a0001c0005t0078 a0001c0007t0084	a0001c0001t0001g0026 a0001c0001t0009g0232 a0001c0001t0013g0287 others(11): Show a0001c0001t0001g0026 a0001c0001t0009g0232 a0001c0001t0013g0287 a0001c0001t0026g0096 a0001c0001t0026g0097 a0001c0001t0036g0293 a0001c0001t0036g0294 a0001c0001t0049g0098 a0001c0001t0080g0219 a0001c0003t0024g0028 a0001c0003t0024g0029 a0001c0003t0083g0278 a0001c0005t0078g0218 a0001c0007t0084g0276	14	306	0.0458	-30	c.18- others(47): Show c.18-17328_18-17299delCAAAACAAAACAAAACAAAACAAAACAA AA		SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding	1/10						chr11	TogoVar
SLC1A6_chr19_14945033_14984864	14979050	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0059 a0001c0003t0003g0059	1	408	0.0025	-30	c.-8+ others(43): Show c.-8+229_-8+258delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG		SLC1A6	ENSG00000105143.13	transcript	ENST00000594383.2	protein_coding	1/9						chr19	TogoVar
SLC22A16_chr6_110419687_110481613	110473491	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03225.hp2 HG03130.hp1 HG03225.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0001 a0001c0001t0001 a0006c0006t0001	a0001c0001t0001g0305 a0006c0006t0001g0240 a0001c0001t0001g0305 a0006c0006t0001g0240	2	416	0.0048	-30	c.53+ others(45): Show c.53+3001_53+3030delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		SLC22A16	ENSG00000004809.14	transcript	ENST00000368919.8	protein_coding	1/7						chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3435330	ACTTCCCC others(23): Show ACTTCCCCTCTCTTCCACCATCCCTGCTCCC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	222	0.0045	-30	c.655 others(49): Show c.655-19505_655-19476delGGGAGCAGGGATGGTGGAAGAGAGGG GAAG		SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	1/9						chr6	TogoVar
SLC22A25_chr11_63153437_63248599	63194890	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp2 HG02897.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0014 a0004c0005t0014	a0004c0005t0014g0004 a0004c0005t0014g0004	3	344	0.0087	-30	c.831 others(49): Show c.831-11103_831-11074delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		SLC22A25	ENSG00000196600.13	transcript	ENST00000306494.11	protein_coding	7/11						chr11	TogoVar
SLC22A4_chr5_132289394_132349190	132306384	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02129.hp1 HG00621.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0048 a0002c0002t0001g0049	2	394	0.0051	-30	c.394 others(47): Show c.394-5747_394-5718delTATATATATATATATATATATATATATA TA		SLC22A4	ENSG00000197208.6	transcript	ENST00000200652.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC24A3_chr20_19207642_19727926	19325783	TATATATA others(23): Show TATATATATATATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0021 a0001c0008t0021	a0001c0008t0021g0154 a0001c0008t0021g0154	1	160	0.0063	-30	c.271 others(49): Show c.271+44698_271+44727delTATATATATATAGAGAGAGAGAGAGA GAGA		SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC24A3_chr20_19207642_19727926	19325787	TATATATA others(23): Show TATATATATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02630.hp2 HG02717.hp1 others(1): Show HG01109.hp2 HG02630.hp2 HG02717.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0003t0002 a0001c0004t0004 others(1): Show a0001c0001t0002 a0001c0003t0002 a0001c0004t0004 a0002c0002t0010	a0001c0001t0002g0075 a0001c0003t0002g0077 a0001c0004t0004g0076 others(1): Show a0001c0001t0002g0075 a0001c0003t0002g0077 a0001c0004t0004g0076 a0002c0002t0010g0001	4	160	0.0250	-30	c.271 others(49): Show c.271+44702_271+44731delTATATATAGAGAGAGAGAGAGAGAGA GAGA		SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr20	TogoVar

Search by Variant

Search

Search Results (Total: 5732 hits)