Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC66A3_chr2_11150467_11183856	11155710	G G	GGCTGCCT others(14): Show GGCTGCCTCCTGCCCCCTCGCA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	402	0.0025	21	c.143 others(34): Show c.143+27_143+47dupCTCCTGCCCCCTCGCAGCTGC	SLC66A3	ENSG00000162976.13	transcript	ENST00000295083.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC6A12_chr12_185081_219157	187589	C C	CAAAAGAG others(14): Show CAAAAGAGCAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0039 a0002c0009t0002g0040 a0002c0009t0002g0039 a0002c0009t0002g0040	2	196	0.0102	21	c.34 others(32): Show c.3478_*3479insTTTTTTTTTTTTTGCTCTTTT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding		2491		chr12	TogoVar
SLC6A16_chr19_49284638_49330191	49286297	G G	GAGAGAGA others(14): Show GAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	333	0.0030	21	c.38 others(32): Show c.3825_*3826insTCTCTCTCTCTCTCTCTCTCT	SLC6A16	ENSG00000063127.16	transcript	ENST00000335875.9	protein_coding		3340		chr19	TogoVar
SLC6A16_chr19_49284638_49330191	49313072	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	123	0.0081	21	c.-64 others(38): Show c.-64-1682_-64-1662dupTTTTTTTTTTTTTTTTTTTTT	SLC6A16	ENSG00000063127.16	transcript	ENST00000335875.9	protein_coding	1/11			chr19	TogoVar
SLC6A16_chr19_49284638_49330191	49322817	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	9	0.1111	21	c.-65 others(38): Show c.-65+2210_-65+2230dupAAAAAAAAAAAAAAAAAAAAA	SLC6A16	ENSG00000063127.16	transcript	ENST00000335875.9	protein_coding	1/11			chr19	TogoVar
SLC6A1_chr3_10987748_11044247	10992390	C C	CGAGGGAA others(14): Show CGAGGGAAGGAGGGGGTGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01168.hp2 others(15): Show HG01069.hp1 HG01071.hp1 HG01168.hp2 HG01175.hp2 HG01884.hp1 HG01884.hp2 HG02486.hp1 HG02896.hp2 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0054 a0001c0001t0055	a0001c0001t0001g0006 a0001c0001t0001g0037 a0001c0001t0001g0038 others(13): Show a0001c0001t0001g0006 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0007g0033 a0001c0001t0007g0036 a0001c0001t0016g0042 a0001c0001t0018g0001 a0001c0001t0018g0039 a0001c0001t0022g0040 a0001c0001t0054g0032 a0001c0001t0055g0006	18	436	0.0413	21	c.-75 others(30): Show c.-755_-754insGAGGGAAGGAGGGGGTGGGGA	SLC6A1	ENSG00000157103.13	transcript	ENST00000287766.10	protein_coding		357		chr3	TogoVar
SLC6A1_chr3_10987748_11044247	11029991	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19068.hp1 NA19070.hp1 NA19043.hp2 NA19068.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0002g0096 a0001c0001t0001g0019 a0001c0001t0002g0096	3	269	0.0112	21	c.132 others(38): Show c.1323+639_1323+640insGAAAGAAAGAAAGAAAGAAAG	SLC6A1	ENSG00000157103.13	transcript	ENST00000287766.10	protein_coding	12/15			chr3	TogoVar
SLC6A4_chr17_30189319_30240697	30230045	A A	AAAGAAGA others(14): Show AAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03516.hp1 HG00438.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0179 a0001c0001t0003g0087 a0001c0001t0001g0179 a0001c0001t0003g0087	2	125	0.0160	21	c.-22 others(40): Show c.-221+5547_-221+5567dupCTTCTTCTTCTTCTTCTTCTT	SLC6A4	ENSG00000108576.10	transcript	ENST00000650711.1	protein_coding	1/14			chr17	TogoVar
SLC6A4_chr17_30189319_30240697	30230095	A A	AGAAGAAG others(14): Show AGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0256 a0001c0001t0003g0256	1	255	0.0039	21	c.-22 others(40): Show c.-221+5517_-221+5518insCTCTTCTTCTTCTTCTTCTTC	SLC6A4	ENSG00000108576.10	transcript	ENST00000650711.1	protein_coding	1/14			chr17	TogoVar
SLC6A4_chr17_30189319_30240697	30230104	A A	AGAAGAAG others(14): Show AGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	281	0.0036	21	c.-22 others(40): Show c.-221+5508_-221+5509insCTCTTCTTCTTCTTCTTCTTC	SLC6A4	ENSG00000108576.10	transcript	ENST00000650711.1	protein_coding	1/14			chr17	TogoVar
SLC6A4_chr17_30189319_30240697	30230110	A A	AGAAGAAG others(14): Show AGAAGAAGAAGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0078 a0001c0001t0017g0078	1	275	0.0036	21	c.-22 others(40): Show c.-221+5502_-221+5503insCTCTTCCTCTTCTTCTTCTTC	SLC6A4	ENSG00000108576.10	transcript	ENST00000650711.1	protein_coding	1/14			chr17	TogoVar
SLC6A4_chr17_30189319_30240697	30230122	A A	AGAGGAAG others(14): Show AGAGGAAGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0083 a0001c0001t0009g0083	1	158	0.0063	21	c.-22 others(40): Show c.-221+5490_-221+5491insCTCCTCCTCCTCCTCTTCCTC	SLC6A4	ENSG00000108576.10	transcript	ENST00000650711.1	protein_coding	1/14			chr17	TogoVar
SLC6A5_chr11_20594608_20664285	20600335	G G	GGAAGAAG others(14): Show GGAAGAAGAGGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0014 a0005c0010t0014	a0005c0010t0014g0161 a0005c0010t0014g0161	1	107	0.0093	21	c.3+6 others(32): Show c.3+668_3+669insGGAAGAAGAAGAAGAAGAAGA	SLC6A5	ENSG00000165970.12	transcript	ENST00000525748.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC7A10_chr19_33203664_33230850	33218684	T T	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0371 a0001c0001t0001g0371	1	355	0.0028	21	c.152 others(38): Show c.152-2712_152-2711insGAAAGAAAGAAAGAAAGAAAG	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19091.hp1 HG03225.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0019 a0001c0001t0012 a0001c0001t0019	a0001c0001t0012g0119 a0001c0001t0019g0005 a0001c0001t0012g0119 a0001c0001t0019g0005	2	175	0.0114	21	c.278 others(38): Show c.278-1287_278-1286insAAATATATATATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0005 a0001c0001t0019g0005	1	174	0.0057	21	c.278 others(38): Show c.278-1287_278-1286insAAAAATATATATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19088.hp2 HG02723.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0002t0124 a0001c0001t0019 a0001c0002t0124	a0001c0001t0019g0046 a0001c0002t0124g0075 a0001c0001t0019g0046 a0001c0002t0124g0075	2	175	0.0114	21	c.278 others(38): Show c.278-1287_278-1286insAAAAAAATATATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237738	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0239 a0001c0001t0004g0239	1	338	0.0030	21	c.278 others(38): Show c.278-1288_278-1287insTATATATATATATATATATAT	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A14_chr3_170454548_170591075	170536735	G G	GACTTTTT others(14): Show GACTTTTTAATGCAACACTATA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0241 a0001c0002t0007g0241	1	306	0.0033	21	c.-15 others(40): Show c.-152-9668_-152-9648dupTATAGTGTTGCATTAAAAAGT	SLC7A14	ENSG00000013293.6	transcript	ENST00000231706.6	protein_coding	1/7			chr3	TogoVar
SLC7A14_chr3_170454548_170591075	170550512	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0018 a0002c0004t0018	a0002c0004t0018g0104 a0002c0004t0018g0104	1	86	0.0116	21	c.-15 others(42): Show c.-152-23445_-152-23425dupAAAAAAAAAAAAAAAAAAAAA	SLC7A14	ENSG00000013293.6	transcript	ENST00000231706.6	protein_coding	1/7			chr3	TogoVar
SLC7A1_chr13_29504414_29600688	29555357	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02071.hp2 HG02165.hp1 others(4): Show HG00408.hp2 HG02071.hp2 HG02165.hp1 HG02683.hp2 NA18969.hp2 NA19012.hp1 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0018 a0001c0001 a0003c0018	a0001c0001t0001 a0003c0018t0042 a0001c0001t0001 a0003c0018t0042	a0001c0001t0001g0005 a0001c0001t0001g0119 a0001c0001t0001g0142 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0119 a0001c0001t0001g0142 a0001c0001t0001g0257 a0001c0001t0001g0289 a0003c0018t0042g0281	7	36	0.1944	21	c.-11 others(40): Show c.-114-1518_-114-1498dupTTTTTTTTTTTTTTTTTTTTT	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558105	T T	TAGGGGGG others(14): Show TAGGGGGGAGTGAATCTGAATG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	324	0.0031	21	c.-11 others(40): Show c.-114-4246_-114-4245insCATTCAGATTCACTCCCCCCT	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558269	A A	AGGGGGAG others(14): Show AGGGGGAGTGAATCTGAATGAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02004.hp2 HG02132.hp2 others(3): Show HG00438.hp2 HG02004.hp2 HG02132.hp2 NA18612.hp1 NA18995.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0002t0002	a0001c0001t0002g0073 a0001c0001t0002g0138 a0001c0001t0003g0074 others(3): Show a0001c0001t0002g0073 a0001c0001t0002g0138 a0001c0001t0003g0074 a0001c0001t0003g0254 a0001c0001t0009g0194 a0001c0002t0002g0075	6	257	0.0233	21	c.-11 others(40): Show c.-114-4410_-114-4409insCTCATTCAGATTCACTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558411	A A	AGGGGGAG others(14): Show AGGGGGAGTGAATCTGAATGAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0252 a0001c0001t0040g0252	1	184	0.0054	21	c.-11 others(40): Show c.-114-4552_-114-4551insCTCATTCAGATTCACTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558520	A A	AGAATGTG others(14): Show AGAATGTGAGTGAGGGGGGAGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	198	0.0051	21	c.-11 others(40): Show c.-114-4661_-114-4660insACTCCCCCCTCACTCACATTC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558532	A A	AGGGGGAG others(14): Show AGGGGGAGTGAATGTGAGTGAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG02615.hp2 HG02622.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0017 a0001c0009t0017	a0001c0009t0017g0048 a0001c0009t0017g0049 a0001c0009t0017g0048 a0001c0009t0017g0049	2	273	0.0073	21	c.-11 others(40): Show c.-114-4673_-114-4672insCTCACTCACATTCACTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558672	A A	AGGGGGAG others(14): Show AGGGGGAGTGAATCTGAGTGAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	303	0.0033	21	c.-11 others(40): Show c.-114-4813_-114-4812insCTCACTCAGATTCACTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559110	A A	AGGCAGAG others(14): Show AGGCAGAGTGAATCTGAATGAG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02055.hp2 HG02630.hp1 HG02004.hp2 HG02055.hp2 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0006 a0001c0004t0011 a0001c0002t0002 a0001c0004t0006 a0001c0004t0011	a0001c0002t0002g0075 a0001c0004t0006g0100 a0001c0004t0011g0104 a0001c0002t0002g0075 a0001c0004t0006g0100 a0001c0004t0011g0104	3	313	0.0096	21	c.-11 others(40): Show c.-114-5251_-114-5250insCTCATTCAGATTCACTCTGCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559130	A A	AGGCAGAG others(14): Show AGGCAGAGTGAATCTGAATGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01168.hp2 HG01175.hp2 others(10): Show HG01069.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01358.hp2 HG01891.hp1 HG02257.hp2 HG02809.hp2 HG02970.hp2 HG03209.hp1 HG03540.hp1 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0018 a0001c0001t0046	a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0086 others(10): Show a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0112 a0001c0001t0003g0207 a0001c0001t0006g0313 a0001c0001t0012g0240 a0001c0001t0012g0308 a0001c0001t0012g0309 a0001c0001t0018g0314 a0001c0001t0046g0088	13	305	0.0426	21	c.-11 others(40): Show c.-114-5271_-114-5270insCTCATTCAGATTCACTCTGCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559130	A A	AGGGGGAG others(14): Show AGGGGGAGTGAATGTGAGTGAG	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0118	1	293	0.0034	21	c.-11 others(40): Show c.-114-5291_-114-5271dupCTCACTCACATTCACTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559208	T T	TGAGGGGG others(14): Show TGAGGGGGGAGTGAATGTGAAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0186 a0001c0002t0004g0186	1	328	0.0030	21	c.-11 others(40): Show c.-114-5349_-114-5348insGTTCACATTCACTCCCCCCTC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559230	A A	AGGCAGAG others(14): Show AGGCAGAGTGAATCTGAATGAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0032 a0001c0012t0032	a0001c0012t0032g0059 a0001c0012t0032g0059	1	285	0.0035	21	c.-11 others(40): Show c.-114-5371_-114-5370insCTCATTCAGATTCACTCTGCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559333	G G	GGGGAAGT others(14): Show GGGGAAGTGAATGTGAGTGACT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0117	1	328	0.0030	21	c.-11 others(40): Show c.-114-5474_-114-5473insAGTCACTCACATTCACTTCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559359	T T	TGAATGTG others(14): Show TGAATGTGAGTGAGGGGGGAGA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0209 a0001c0001t0012g0209	1	310	0.0032	21	c.-11 others(40): Show c.-114-5500_-114-5499insTCTCCCCCCTCACTCACATTC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559391	A A	AGGGGGAG others(14): Show AGGGGGAGTGAATGTGAGTGAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02004.hp2 HG02132.hp2 others(1): Show HG00558.hp2 HG02004.hp2 HG02132.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0074 a0001c0001t0003g0168 a0001c0001t0003g0191 others(1): Show a0001c0001t0003g0074 a0001c0001t0003g0168 a0001c0001t0003g0191 a0001c0002t0002g0075	4	302	0.0132	21	c.-11 others(40): Show c.-114-5532_-114-5531insCTCACTCACATTCACTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559392	G G	GGGGGGAG others(14): Show GGGGGGAGTGAATGTGAGTGAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0252 a0001c0001t0040g0252	1	310	0.0032	21	c.-11 others(40): Show c.-114-5533_-114-5532insGTCACTCACATTCACTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A5_chr16_87825023_87874507	87863986	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0332 a0001c0001t0003g0332	1	12	0.0833	21	c.538 others(38): Show c.538+4898_538+4899insATATATATATATATATATATA	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding	1/9			chr16	TogoVar
SLC7A9_chr19_32825511_32874767	32844857	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18973.hp1 HG02559.hp2 NA18973.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0034 a0002c0003t0002g0046 a0002c0003t0002g0034 a0002c0003t0002g0046	2	79	0.0253	21	c.978 others(36): Show c.978-927_978-907dupTTTTTTTTTTTTTTTTTTTTT	SLC7A9	ENSG00000021488.13	transcript	ENST00000023064.9	protein_coding	9/12			chr19	TogoVar
SLC7A9_chr19_32825511_32874767	32845103	G G	GCAGTAAG others(14): Show GCAGTAAGCCAAGATTGTGCCA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0248 a0002c0002t0004g0248	1	402	0.0025	21	c.978 others(38): Show c.978-1173_978-1153dupTGGCACAATCTTGGCTTACTG	SLC7A9	ENSG00000021488.13	transcript	ENST00000023064.9	protein_coding	9/12			chr19	TogoVar
SLC8A1_chr2_40092270_40457090	40107279	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02615.hp1 HG02922.hp2 others(5): Show HG02109.hp2 HG02615.hp1 HG02922.hp2 HG03195.hp2 HG03471.hp2 HG03579.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0080 a0001c0001t0129 others(3): Show a0001c0001t0004 a0001c0001t0080 a0001c0001t0129 a0001c0001t0173 a0001c0001t0175 a0001c0001t0178	a0001c0001t0004g0054 a0001c0001t0004g0153 a0001c0001t0004g0158 others(5): Show a0001c0001t0004g0054 a0001c0001t0004g0153 a0001c0001t0004g0158 a0001c0001t0080g0080 a0001c0001t0129g0092 a0001c0001t0173g0084 a0001c0001t0175g0046 a0001c0001t0178g0012	8	27	0.2963	21	c.79 others(32): Show c.7973_*7974insTTTTTTTTTTTTTTTTTTTTT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	11/11	7973		chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40107279	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAGAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01515.hp1 others(1): Show HG01070.hp1 HG01071.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0014 a0001c0001t0013 a0001c0001t0014	a0001c0001t0013g0228 a0001c0001t0013g0229 a0001c0001t0014g0003 others(1): Show a0001c0001t0013g0228 a0001c0001t0013g0229 a0001c0001t0014g0003 a0001c0001t0014g0004	4	23	0.1739	21	c.79 others(32): Show c.7973_*7974insTTTTCTTTTTTTTTTTTTTTT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	11/11	7973		chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40215643	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0039 a0001c0001t0109g0039	1	75	0.0133	21	c.180 others(42): Show c.1809-37171_1809-37151dupTTTTTTTTTTTTTTTTTTTTT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40253038	T T	TGTATCTG others(14): Show TGTATCTGTAGATATGTATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01975.hp2 NA18957.hp1 others(1): Show HG01934.hp2 HG01975.hp2 NA18957.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0045 a0001c0001t0161 others(1): Show a0001c0001t0041 a0001c0001t0045 a0001c0001t0161 a0001c0001t0177	a0001c0001t0041g0233 a0001c0001t0045g0011 a0001c0001t0161g0178 others(1): Show a0001c0001t0041g0233 a0001c0001t0045g0011 a0001c0001t0161g0178 a0001c0001t0177g0172	4	233	0.0172	21	c.180 others(42): Show c.1809-74546_1809-74545insTATATACATATCTACAGATAC	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40302074	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	223	0.0045	21	c.180 others(44): Show c.1809-123582_1809-123581insCACACACACACACACACACAC	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40456316	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG03098.hp2 HG02055.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0127 a0001c0001t0020 a0001c0001t0127	a0001c0001t0020g0110 a0001c0001t0127g0150 a0001c0001t0020g0110 a0001c0001t0127g0150	2	83	0.0241	21	c.-44 others(32): Show c.-4458_-4438dupTTTTTTTTTTTTTTTTTTTTT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding		4227		chr2	TogoVar
SLC8A2_chr19_47423017_47476893	47439603	C C	CTTCCTTC others(14): Show CTTCCTTCCTTTCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp2 HG02970.hp2 others(3): Show HG02572.hp1 HG02717.hp2 HG02970.hp2 HG03195.hp1 HG03471.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0003 a0001c0001t0007 a0001c0009t0003 a0001c0001t0003 a0001c0001t0007 a0001c0009t0003	a0001c0001t0003g0108 a0001c0001t0003g0116 a0001c0001t0007g0032 others(3): Show a0001c0001t0003g0108 a0001c0001t0003g0116 a0001c0001t0007g0032 a0001c0001t0007g0107 a0001c0001t0007g0241 a0001c0009t0003g0112	6	186	0.0323	21	c.188 others(40): Show c.1885+1565_1885+1566insAGGAAGGAAGAAAGGAAGGAA	SLC8A2	ENSG00000118160.14	transcript	ENST00000236877.11	protein_coding	6/9			chr19	TogoVar
SLC9A1_chr1_27093809_27160125	27131947	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0012 a0002c0006t0012	a0002c0006t0012g0063 a0002c0006t0012g0063	1	106	0.0094	21	c.353 others(40): Show c.353-17662_353-17661insATATATTTTTTTTTTTTTTTT	SLC9A1	ENSG00000090020.11	transcript	ENST00000263980.8	protein_coding	1/11			chr1	TogoVar
SLC9A3_chr5_465456_529449	495797	A A	ACTCCCCG others(14): Show ACTCCCCGCGCCATCGCCGACC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp2 HG01109.hp2 others(1): Show HG00642.hp1 HG01074.hp2 HG01109.hp2 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031	4	216	0.0185	21	c.212 others(38): Show c.212-3747_212-3727dupGGTCGGCGATGGCGCGGGGAG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	507166	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01496.hp1 HG02056.hp2 others(17): Show HG00280.hp1 HG01496.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02135.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG03471.hp2 HG03540.hp2 HG03831.hp1 HG06807.hp2 NA18945.hp2 NA18954.hp1 NA18963.hp2 NA18975.hp1 NA18975.hp2 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0001c0020 others(4): Show a0001c0001 a0001c0008 a0001c0020 a0001c0025 a0002c0002 a0002c0010 a0002c0018	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0021 a0001c0008t0018 a0001c0020t0004 a0001c0025t0001 a0002c0002t0002 a0002c0010t0002 a0002c0018t0002	a0001c0001t0001g0041 a0001c0001t0001g0053 a0001c0001t0001g0064 others(17): Show a0001c0001t0001g0041 a0001c0001t0001g0053 a0001c0001t0001g0064 a0001c0001t0001g0095 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0004g0010 a0001c0001t0004g0091 a0001c0001t0005g0185 a0001c0001t0014g0061 a0001c0001t0021g0127 a0001c0008t0018g0124 a0001c0020t0004g0102 a0001c0025t0001g0083 a0002c0002t0002g0036 a0002c0002t0002g0049 a0002c0002t0002g0076 a0002c0002t0002g0099 a0002c0010t0002g0093 a0002c0018t0002g0048	20	60	0.3333	21	c.212 others(40): Show c.212-15096_212-15095insAAAAAAAAAAAAAAAAAAAAA	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A8_chr20_49807828_49897242	49884274	G G	GACACACA others(14): Show GACACACACGACACACACACAC	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0145 a0001c0001t0004g0145	1	271	0.0037	21	c.149 others(38): Show c.1491+216_1491+217insGACACACACACACACACACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar

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