Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC46A3_chr13_28695080_28723970	28717484	A A	AATTTTTT others(14): Show AATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18985.hp1 NA18963.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0197 a0001c0001t0009g0196 a0001c0001t0004g0197 a0001c0001t0009g0196	2	426	0.0047	21	c.189 others(36): Show c.189+325_189+326insAAAAAAAAAAAAAAAAAAAAT	SLC46A3	ENSG00000139508.15	transcript	ENST00000266943.11	protein_coding	2/5			chr13	TogoVar
SLC49A3_chr4_676829_694151	681665	G G	GCCCCCTC others(14): Show GCCCCCTCCAGCGCCGCCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02976.hp1 HG01167.hp2 HG02976.hp1	a0001 a0007 a0001 a0007	a0001c0009 a0007c0015 a0001c0009 a0007c0015	a0001c0009t0003 a0007c0015t0003 a0001c0009t0003 a0007c0015t0003	a0001c0009t0003g0066 a0007c0015t0003g0065 a0001c0009t0003g0066 a0007c0015t0003g0065	2	412	0.0049	21	c.29 others(30): Show c.292_*293insTGAGGGCGGCGCTGGAGGGGG	SLC49A3	ENSG00000169026.13	transcript	ENST00000322224.9	protein_coding		163		chr4	TogoVar
SLC4A1AP_chr2_27658889_27699969	27693124	A A	ATTTTGCA others(14): Show ATTTTGCAACGTAGAGTAGGGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp1 HG01169.hp2 others(21): Show HG00639.hp2 HG01167.hp1 HG01169.hp2 HG01346.hp2 HG01358.hp1 HG01891.hp2 HG02109.hp2 HG02145.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02818.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0013	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0001c0013t0001	a0001c0001t0001g0158 a0001c0001t0001g0170 a0001c0001t0001g0188 others(15): Show a0001c0001t0001g0158 a0001c0001t0001g0170 a0001c0001t0001g0188 a0001c0001t0001g0205 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0002g0016 a0001c0003t0002g0017 a0001c0003t0002g0018 a0001c0003t0002g0040 a0001c0003t0002g0041 a0001c0003t0002g0042 a0001c0003t0002g0046 a0001c0006t0001g0015 a0001c0013t0001g0214	24	334	0.0719	21	c.211 others(38): Show c.2110-550_2110-549insAGAGTAGGGGTTTTGCAACGT	SLC4A1AP	ENSG00000163798.14	transcript	ENST00000326019.11	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC4A1_chr17_44243390_44273135	44263707	C C	CTCCTTCC others(14): Show CTCCTTCCCTCCCTTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	406	0.0025	21	c.-68 others(36): Show c.-68-774_-68-773insAGGAGGGAAGGGAGGGAAGGA	SLC4A1	ENSG00000004939.16	transcript	ENST00000262418.12	protein_coding	1/19			chr17	TogoVar
SLC4A2_chr7_151054589_151081523	151069140	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp2 HG00733.hp1 others(72): Show HG00621.hp1 HG00639.hp2 HG00733.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01109.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02080.hp2 HG02083.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02683.hp2 HG02818.hp2 HG02970.hp2 HG03239.hp2 HG03486.hp1 HG03516.hp2 HG04228.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18972.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18992.hp2 NA18995.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19056.hp2 NA19065.hp2 NA19067.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0009 others(5): Show a0001c0002 a0001c0003 a0001c0009 a0001c0012 a0002c0001 a0002c0014 a0002c0019 a0002c0022	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(7): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0009t0001 a0001c0012t0001 a0002c0001t0001 a0002c0001t0002 a0002c0014t0002 a0002c0019t0001 a0002c0022t0002	a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0036 others(20): Show a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0036 a0001c0002t0001g0079 a0001c0002t0001g0120 a0001c0002t0001g0146 a0001c0003t0001g0110 a0001c0003t0002g0018 a0001c0003t0002g0190 a0001c0009t0001g0017 a0001c0012t0001g0006 a0002c0001t0001g0045 a0002c0001t0001g0169 a0002c0001t0002g0001 a0002c0001t0002g0008 a0002c0001t0002g0046 a0002c0001t0002g0170 a0002c0001t0002g0180 a0002c0001t0002g0198 a0002c0014t0002g0001 a0002c0014t0002g0153 a0002c0019t0001g0168 a0002c0022t0002g0001	75	406	0.1847	21	c.114 others(38): Show c.1148-788_1148-787insAAAAAAAAAAAAAAAAAAAAA	SLC4A2	ENSG00000164889.15	transcript	ENST00000413384.7	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC5A11_chr16_24840963_24916626	24849593	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	378	0.0027	21	c.-25 others(38): Show c.-25+3156_-25+3157insAAAAAAAAAAAAATATATATA	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC5A11_chr16_24840963_24916626	24849593	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0215 a0002c0003t0001g0215	1	378	0.0027	21	c.-25 others(38): Show c.-25+3156_-25+3157insAAAAAAAAAAATATATATATA	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC5A11_chr16_24840963_24916626	24849593	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0326 a0002c0005t0002g0326	1	378	0.0027	21	c.-25 others(38): Show c.-25+3156_-25+3157insAAAAATATATATATATATATA	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC5A3_chr21_34068578_34111260	34068818	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0188 a0001c0001t0015g0188	1	344	0.0029	21	c.-52 others(32): Show c.-5264_-5263insAAAAAAAAAAAAAAAAAAAAG	SLC5A3	ENSG00000198743.7	transcript	ENST00000381151.5	protein_coding		4759		chr21	TogoVar
SLC5A4_chr22_32213464_32260347	32218406	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0093 a0003c0007t0001g0093	1	302	0.0033	21	c.10 others(30): Show c.107_*108insTTTTTTTTTTTTTTTTTTTTT	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding		57		chr22	TogoVar
SLC5A4_chr22_32213464_32260347	32239581	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	302	0.0033	21	c.478 others(36): Show c.478-492_478-491insTATATATATATATATATATAT	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding	5/14			chr22	TogoVar
SLC66A2_chr18_79897420_79956653	79949285	A A	ACACCTCA others(14): Show ACACCTCAGCATCAGAACTCAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0286 a0001c0001t0003g0286	1	352	0.0028	21	c.203 others(38): Show c.203+1418_203+1438dupATGAGTTCTGATGCTGAGGTG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	2/5			chr18	TogoVar
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	a0001c0001t0003g0033 a0001c0001t0003g0033	1	404	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	a0002c0009t0002g0028 a0002c0009t0002g0029 a0002c0009t0002g0028 a0002c0009t0002g0029	2	420	0.0048	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	338	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	338	0.0030	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	338	0.0030	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 a0001c0001t0053 a0001c0001t0054	a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0028 others(13): Show a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0007g0023 a0001c0001t0007g0026 a0001c0001t0016g0032 a0001c0001t0018g0001 a0001c0001t0018g0029 a0001c0001t0022g0030 a0001c0001t0053g0022 a0001c0001t0054g0002	18	438	0.0411	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	a0001c0001t0001g0012 a0001c0001t0002g0089 a0001c0001t0001g0012 a0001c0001t0002g0089	3	438	0.0069	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	a0001c0001t0001g0188 a0001c0001t0003g0087 a0001c0001t0001g0188 a0001c0001t0003g0087	2	286	0.0070	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	286	0.0035	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	a0001c0001t0001g0185 a0001c0001t0001g0185	1	286	0.0035	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	a0001c0001t0017g0080 a0001c0001t0017g0080	1	286	0.0035	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	a0001c0001t0009g0077 a0001c0001t0009g0077	1	286	0.0035	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	a0005c0010t0014g0333 a0005c0010t0014g0333	1	354	0.0028	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	a0001c0001t0001g0373 a0001c0001t0001g0373	1	410	0.0024	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	a0001c0001t0044 a0001c0001t0066 a0001c0001t0044 a0001c0001t0066	a0001c0001t0044g0119 a0001c0001t0066g0038 a0001c0001t0044g0119 a0001c0001t0066g0038	2	364	0.0055	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	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0024 a0001c0001t0064g0024	1	364	0.0028	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	a0001c0001t0065 a0001c0002t0150 a0001c0001t0065 a0001c0002t0150	a0001c0001t0065g0016 a0001c0002t0150g0075 a0001c0001t0065g0016 a0001c0002t0150g0075	2	364	0.0055	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	a0001c0001t0004g0221 a0001c0001t0004g0221	1	364	0.0028	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	a0001c0002t0007g0242 a0001c0002t0007g0242	1	308	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	a0002c0004t0018g0103 a0002c0004t0018g0103	1	308	0.0033	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	a0001c0001t0001g0007 a0001c0001t0001g0105 a0001c0001t0001g0128 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0105 a0001c0001t0001g0128 a0001c0001t0001g0240 a0001c0001t0001g0271 a0003c0018t0042g0248	7	330	0.0212	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	a0001c0001t0003g0077 a0001c0001t0003g0077	1	330	0.0030	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	a0001c0001t0002g0124 a0001c0001t0002g0303 a0001c0001t0003g0237 others(3): Show a0001c0001t0002g0124 a0001c0001t0002g0303 a0001c0001t0003g0237 a0001c0001t0003g0305 a0001c0001t0009g0178 a0001c0002t0002g0304	6	330	0.0182	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	a0001c0001t0040g0235 a0001c0001t0040g0235	1	330	0.0030	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	a0001c0001t0001g0276 a0001c0001t0001g0276	1	330	0.0030	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	a0001c0009t0017g0047 a0001c0009t0017g0048 a0001c0009t0017g0047 a0001c0009t0017g0048	2	330	0.0061	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	a0001c0001t0003g0077 a0001c0001t0003g0077	1	330	0.0030	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	a0001c0002t0002g0304 a0001c0004t0006g0086 a0001c0004t0011g0090 a0001c0002t0002g0304 a0001c0004t0006g0086 a0001c0004t0011g0090	3	330	0.0091	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	a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0076 others(10): Show a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0098 a0001c0001t0003g0192 a0001c0001t0003g0308 a0001c0001t0003g0310 a0001c0001t0006g0296 a0001c0001t0012g0223 a0001c0001t0012g0291 a0001c0001t0012g0292 a0001c0001t0018g0297 a0001c0001t0046g0075	13	330	0.0394	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	a0001c0001t0003g0104 a0001c0001t0003g0104	1	330	0.0030	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	a0001c0002t0004g0170 a0001c0002t0004g0170	1	330	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	a0001c0012t0032g0057 a0001c0012t0032g0057	1	330	0.0030	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	a0001c0001t0003g0103 a0001c0001t0003g0103	1	330	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	a0001c0001t0012g0193 a0001c0001t0012g0193	1	330	0.0030	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	a0001c0001t0003g0152 a0001c0001t0003g0175 a0001c0001t0003g0305 others(1): Show a0001c0001t0003g0152 a0001c0001t0003g0175 a0001c0001t0003g0305 a0001c0002t0002g0304	4	330	0.0121	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	a0001c0001t0040g0235 a0001c0001t0040g0235	1	330	0.0030	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	a0001c0001t0003g0330 a0001c0001t0003g0330	1	390	0.0026	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	a0002c0003t0002g0027 a0002c0003t0002g0041 a0002c0003t0002g0027 a0002c0003t0002g0041	2	404	0.0050	21	c.978 others(36): Show c.978-927_978-907dupTTTTTTTTTTTTTTTTTTTTT	SLC7A9	ENSG00000021488.13	transcript	ENST00000023064.9	protein_coding	9/12			chr19	TogoVar

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