Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
SLC5A8_chr12_101150493_101215238	101158598	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0029 a0002c0003t0002g0029	1	190	0.0053	28	c.163 others(45): Show c.1631-271_1631-270insTAGAGAGAGAGAGAGAGAGAGAGAGAGA	SLC5A8	ENSG00000256870.3	transcript	ENST00000536262.3	protein_coding	13/14			chr12	TogoVar
SLC5A9_chr1_48217716_48253638	48244878	G G	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02132.hp2 HG02155.hp1 others(6): Show HG01175.hp2 HG02132.hp2 HG02155.hp1 NA18941.hp1 NA18954.hp1 NA18971.hp1 NA18977.hp2 NA19065.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0097 others(5): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0097 a0001c0001t0001g0135 a0001c0001t0001g0177 a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0005t0001g0033	9	18	0.5000	28	c.183 others(47): Show c.1837+2263_1837+2264insGTGTATATATATATATATATATATAT AT	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC5A9_chr1_48217716_48253638	48244878	G G	GTGTGTGT others(21): Show GTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	10	0.1000	28	c.183 others(47): Show c.1837+2263_1837+2264insGTGTGTATATATATATATATATATAT AT	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC66A1_chr1_19307326_19334300	19319605	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03130.hp2 HG02258.hp1 HG03130.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0142 a0004c0006t0001g0143 a0004c0006t0001g0142 a0004c0006t0001g0143	2	181	0.0110	28	c.164 others(45): Show c.164+1780_164+1781insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SLC66A1	ENSG00000040487.13	transcript	ENST00000375153.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC66A1_chr1_19307326_19334300	19327529	A A	ATCCCTCC others(21): Show ATCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03579.hp2 HG03831.hp2 others(8): Show HG00621.hp1 HG03579.hp2 HG03831.hp2 NA18948.hp1 NA18972.hp1 NA18982.hp2 NA19056.hp2 NA19077.hp2 NA19079.hp2 NA19086.hp1 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0003c0005t0029 a0001c0001t0001 a0001c0001t0002 a0003c0005t0029	a0001c0001t0001g0007 a0001c0001t0001g0078 a0001c0001t0001g0084 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0101 a0001c0001t0002g0281 a0003c0005t0029g0127	11	135	0.0815	28	c.804 others(43): Show c.804+144_804+145insCTCCCTCCCTCCCTCCCTCCCTCCCTCC	SLC66A1	ENSG00000040487.13	transcript	ENST00000375153.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC66A3_chr2_11150467_11183856	11164345	A A	ATATATAT others(21): Show ATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG04228.hp1 NA18939.hp1 others(8): Show HG03834.hp1 HG04228.hp1 NA18939.hp1 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18994.hp1 NA19055.hp2 NA19079.hp1 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0090 a0001c0001t0001g0092 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0002g0203 a0001c0001t0005g0117 a0001c0001t0006g0110 a0002c0002t0001g0005 a0002c0002t0001g0061 a0002c0002t0001g0091 a0002c0002t0001g0118	11	39	0.2821	28	c.354 others(41): Show c.354+85_354+86insATATATATATATTTTTTTTTTTTTTTTT	SLC66A3	ENSG00000162976.13	transcript	ENST00000295083.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC66A3_chr2_11150467_11183856	11164345	A A	ATATATAT others(21): Show ATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03831.hp2 HG04115.hp2 others(4): Show HG01993.hp2 HG03831.hp2 HG04115.hp2 NA18948.hp2 NA18983.hp2 NA18995.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0207 others(3): Show a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0207 a0001c0001t0002g0001 a0001c0001t0006g0108 a0001c0001t0006g0219	7	35	0.2000	28	c.354 others(41): Show c.354+85_354+86insATATATATATTTTTTTTTTTTTTTTTTT	SLC66A3	ENSG00000162976.13	transcript	ENST00000295083.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC66A3_chr2_11150467_11183856	11164345	A A	ATATATAT others(21): Show ATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03209.hp1 HG03453.hp1 others(10): Show HG02970.hp1 HG03209.hp1 HG03453.hp1 NA18955.hp1 NA18971.hp2 NA18979.hp2 NA19000.hp2 NA19009.hp2 NA19010.hp2 NA19054.hp2 NA19065.hp1 NA19080.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0016 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0015 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0049 a0001c0001t0001g0072 a0001c0001t0006g0079 a0001c0001t0006g0088 a0001c0001t0011g0073 a0001c0001t0016g0097 a0002c0002t0001g0005	13	41	0.3171	28	c.354 others(41): Show c.354+85_354+86insATATATATTTTTTTTTTTTTTTTTTTTT	SLC66A3	ENSG00000162976.13	transcript	ENST00000295083.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC66A3_chr2_11150467_11183856	11164345	A A	ATATATAT others(21): Show ATATATATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	29	0.0345	28	c.354 others(41): Show c.354+85_354+86insATATATTTTTTTTTTTTTTTTTTTTTTT	SLC66A3	ENSG00000162976.13	transcript	ENST00000295083.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC6A13_chr12_215622_267836	246132	A A	AAAATAAA others(21): Show AAAATAAATGAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01516.hp2 HG03098.hp1 others(4): Show HG00423.hp2 HG01516.hp2 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 NA18945.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0003 a0001c0001 a0001c0009 a0002c0003	a0001c0001t0001 a0001c0009t0001 a0002c0003t0001 a0001c0001t0001 a0001c0009t0001 a0002c0003t0001	a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0189 others(4): Show a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0009t0001g0286 a0002c0003t0001g0190	7	141	0.0496	28	c.203 others(45): Show c.203-2320_203-2319insATTTATTTATTTATTTATTCATTTATTT	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	2/14			chr12	TogoVar
SLC6A17_chr1_110145494_110207202	110153519	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG03579.hp1 others(1): Show HG01515.hp1 HG01517.hp2 HG03579.hp1 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0008 a0002c0002t0002 a0001c0006t0008 a0002c0002t0002	a0001c0006t0008g0263 a0002c0002t0002g0108 a0002c0002t0002g0109 others(1): Show a0001c0006t0008g0263 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110	4	167	0.0240	28	c.-88 others(45): Show c.-88+2641_-88+2668dupTGTGTGTGTGTGTGTGTGTGTGTGTGTG	SLC6A17	ENSG00000197106.7	transcript	ENST00000331565.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC6A20_chr3_45750449_45801536	45785613	T T	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0292 a0001c0003t0009g0292	1	50	0.0200	28	c.122 others(45): Show c.122-3418_122-3391dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA	SLC6A20	ENSG00000163817.17	transcript	ENST00000358525.9	protein_coding	1/10			chr3	TogoVar
SLC6A3_chr5_1387794_1450440	1422634	C C	CCACGGTG others(21): Show CCACGGTGCTGGGTGCCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0196 a0001c0003t0002g0196	1	310	0.0032	28	c.654 others(43): Show c.654-621_654-620insTGGGCAGCGGTGGGCACCCAGCACCGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC7A11_chr4_138159097_138247349	138237700	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0233 a0001c0001t0004g0233	1	316	0.0032	28	c.278 others(45): Show c.278-1277_278-1250dupATATATATATATATATATATATATATAT	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237730	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0096 a0001c0001t0009g0096	1	362	0.0028	28	c.278 others(45): Show c.278-1280_278-1279insGTATATATATATATATATATATATATAT	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0006 a0001c0001t0031g0006	2	175	0.0114	28	c.278 others(45): Show c.278-1287_278-1286insAATATATATATATATATATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03209.hp2 HG03041.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0133 a0001c0002t0044 a0001c0001t0133 a0001c0002t0044	a0001c0001t0133g0121 a0001c0002t0044g0152 a0001c0001t0133g0121 a0001c0002t0044g0152	2	175	0.0114	28	c.278 others(45): Show c.278-1287_278-1286insAAAATATATATATATATATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A1_chr13_29504414_29600688	29555357	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	30	0.0333	28	c.-11 others(47): Show c.-114-1498_-114-1497insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29576292	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0023 a0001c0010t0023	a0001c0010t0023g0050 a0001c0010t0023g0050	1	120	0.0083	28	c.-11 others(49): Show c.-115+19123_-115+19124insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A5_chr16_87825023_87874507	87863986	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01074.hp1 HG02559.hp2 others(1): Show HG00280.hp1 HG01074.hp1 HG02559.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0030 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0030 a0001c0002t0020	a0001c0001t0002g0283 a0001c0001t0003g0367 a0001c0001t0030g0310 others(1): Show a0001c0001t0002g0283 a0001c0001t0003g0367 a0001c0001t0030g0310 a0001c0002t0020g0032	4	15	0.2667	28	c.538 others(45): Show c.538+4898_538+4899insATATATATATATATATATATATATATAT	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding	1/9			chr16	TogoVar
SLC7A5_chr16_87825023_87874507	87872916	T T	TTCTTTCT others(21): Show TTCTTTCTTTCTTTCTTTCTTTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0002 a0001c0002t0006g0002	1	383	0.0026	28	c.-34 others(39): Show c.-3495_-3494insGAGAGAGAAAGAAAGAAAGAAAGAAAGA	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding		3410		chr16	TogoVar
SLC7A5_chr16_87825023_87874507	87872917	T T	TCTTTCTT others(21): Show TCTTTCTTTCTTTCTTCCTTCCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	154	0.0065	28	c.-34 others(39): Show c.-3496_-3495insGAAGGAAGGAAGGAAGAAAGAAAGAAAG	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding		3411		chr16	TogoVar
SLC7A5_chr16_87825023_87874507	87872917	T T	TCTTTCTT others(21): Show TCTTTCTTTCTTTCTTTCTTTCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 NA18990.hp2 HG04184.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0304 a0001c0001t0013g0157 a0001c0001t0001g0304 a0001c0001t0013g0157	2	155	0.0129	28	c.-34 others(39): Show c.-3496_-3495insGAAGGAAGAAAGAAAGAAAGAAAGAAAG	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding		3411		chr16	TogoVar
SLC7A6_chr16_68259526_68306819	68291762	G G	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02027.hp2 others(5): Show HG01884.hp1 HG01891.hp1 HG02027.hp2 HG03139.hp1 HG03540.hp1 NA18906.hp2 NA19055.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0022 a0001c0001t0003 a0001c0001t0004 a0001c0001t0022	a0001c0001t0003g0019 a0001c0001t0003g0051 a0001c0001t0003g0061 others(4): Show a0001c0001t0003g0019 a0001c0001t0003g0051 a0001c0001t0003g0061 a0001c0001t0003g0158 a0001c0001t0003g0188 a0001c0001t0004g0224 a0001c0001t0022g0168	8	64	0.1250	28	c.102 others(45): Show c.1022+112_1022+139dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SLC7A6	ENSG00000103064.15	transcript	ENST00000219343.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC7A7_chr14_22768222_22820435	22787436	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19030.hp2 HG03579.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0011 a0001c0006t0001g0008 a0001c0001t0001g0011 a0001c0006t0001g0008	2	153	0.0131	28	c.500 others(45): Show c.500-7386_500-7385insATTTATTTATTTATTTATTTATTTATTT	SLC7A7	ENSG00000155465.21	transcript	ENST00000674313.1	protein_coding	2/9			chr14	TogoVar
SLC7A7_chr14_22768222_22820435	22812773	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01069.hp1 HG01106.hp1 others(16): Show HG00609.hp2 HG01069.hp1 HG01106.hp1 HG01175.hp1 HG02055.hp2 HG02155.hp2 HG02257.hp2 HG02451.hp1 HG02602.hp1 HG02615.hp2 HG03098.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp1 NA18906.hp2 NA18988.hp1 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 others(2): Show a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0009	a0001c0002t0002 a0001c0004t0002 a0001c0005t0002 others(2): Show a0001c0002t0002 a0001c0004t0002 a0001c0005t0002 a0001c0007t0002 a0001c0009t0001	a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0339 others(16): Show a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0339 a0001c0002t0002g0340 a0001c0002t0002g0341 a0001c0002t0002g0343 a0001c0002t0002g0346 a0001c0002t0002g0347 a0001c0002t0002g0350 a0001c0002t0002g0390 a0001c0004t0002g0342 a0001c0004t0002g0344 a0001c0004t0002g0349 a0001c0004t0002g0351 a0001c0005t0002g0352 a0001c0007t0002g0345 a0001c0007t0002g0348 a0001c0009t0001g0204 a0001c0009t0001g0205	19	131	0.1450	28	c.499 others(43): Show c.499+126_499+127insTATATATATATATATATATATATATATA	SLC7A7	ENSG00000155465.21	transcript	ENST00000674313.1	protein_coding	2/9			chr14	TogoVar
SLC7A8_chr14_23120295_23188660	23147079	A A	ATCCATCC others(21): Show ATCCATCCATCCATCCATCCATCCATCCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00280.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0025 a0001c0002t0002 a0001c0002t0025	a0001c0002t0002g0254 a0001c0002t0025g0214 a0001c0002t0002g0254 a0001c0002t0025g0214	2	390	0.0051	28	c.509 others(45): Show c.509-3876_509-3875insAGGATGGATGGATGGATGGATGGATGGA	SLC7A8	ENSG00000092068.21	transcript	ENST00000316902.12	protein_coding	3/10			chr14	TogoVar
SLC8A1_chr2_40092270_40457090	40122201	C C	CGCGCGCG others(21): Show CGCGCGCGCACACACACACACACACGTGT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0132 a0001c0001t0066g0132	1	176	0.0057	28	c.254 others(47): Show c.2546-6573_2546-6572insACACGTGTGTGTGTGTGTGTGCGCGC GC	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	10/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40277796	A A	ATATATAT others(21): Show ATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0134 a0001c0001t0134	a0001c0001t0134g0087 a0001c0001t0134g0087	1	234	0.0043	28	c.180 others(49): Show c.1809-99304_1809-99303insCACACATATATATATATATATATA TATA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40277798	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0153 a0001c0001t0004g0153	1	231	0.0043	28	c.180 others(49): Show c.1809-99306_1809-99305insCACATATATATATATATATATATA TATA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40277798	A A	ATATATAT others(21): Show ATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03195.hp1 HG02615.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0182 a0001c0001t0189 a0001c0001t0182 a0001c0001t0189	a0001c0001t0182g0038 a0001c0001t0189g0116 a0001c0001t0182g0038 a0001c0001t0189g0116	2	232	0.0086	28	c.180 others(49): Show c.1809-99306_1809-99305insCACACATATATATATATATATATA TATA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40284460	G G	GATATATA others(21): Show GATATATATCTATAGATATGTATGTATAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18906.hp1 HG02486.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0125 a0001c0001t0126 a0001c0001t0125 a0001c0001t0126	a0001c0001t0125g0050 a0001c0001t0126g0049 a0001c0001t0125g0050 a0001c0001t0126g0049	2	234	0.0085	28	c.180 others(51): Show c.1809-105995_1809-105968dupGTATACATACATATCTATAGAT ATATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40284463	A A	ATATATCT others(21): Show ATATATCTATAGATATGTATGTATACATG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02257.hp1 HG02280.hp1 others(4): Show HG00741.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02818.hp2 HG02922.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0065 a0001c0001t0080 others(4): Show a0001c0001t0064 a0001c0001t0065 a0001c0001t0080 a0001c0001t0101 a0001c0001t0103 a0001c0001t0113 a0001c0001t0120	a0001c0001t0064g0093 a0001c0001t0065g0063 a0001c0001t0080g0080 others(4): Show a0001c0001t0064g0093 a0001c0001t0065g0063 a0001c0001t0080g0080 a0001c0001t0101g0199 a0001c0001t0103g0122 a0001c0001t0113g0045 a0001c0001t0120g0075	7	234	0.0299	28	c.180 others(51): Show c.1809-105971_1809-105970insCATGTATACATACATATCTATA GATATA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40287582	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00741.hp2 HG02258.hp2 others(4): Show HG00408.hp2 HG00741.hp2 HG02258.hp2 HG02922.hp2 HG03041.hp2 NA18979.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0070 others(4): Show a0001c0001t0006 a0001c0001t0011 a0001c0001t0070 a0001c0001t0080 a0001c0001t0091 a0001c0001t0120 a0001c0001t0171	a0001c0001t0006g0136 a0001c0001t0011g0130 a0001c0001t0070g0006 others(4): Show a0001c0001t0006g0136 a0001c0001t0011g0130 a0001c0001t0070g0006 a0001c0001t0080g0080 a0001c0001t0091g0128 a0001c0001t0120g0075 a0001c0001t0171g0214	7	44	0.1591	28	c.180 others(51): Show c.1809-109117_1809-109090dupCACACACACACACACACACACA CACACA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40288834	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp2 HG02886.hp1 others(2): Show HG01074.hp1 HG01099.hp2 HG02886.hp1 HG02922.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0058 a0001c0001t0109 others(1): Show a0001c0001t0007 a0001c0001t0058 a0001c0001t0109 a0001c0001t0170	a0001c0001t0007g0160 a0001c0001t0007g0161 a0001c0001t0058g0112 others(2): Show a0001c0001t0007g0160 a0001c0001t0007g0161 a0001c0001t0058g0112 a0001c0001t0109g0039 a0001c0001t0170g0061	5	197	0.0254	28	c.180 others(51): Show c.1809-110342_1809-110341insATATATATATATATATATATAT ATATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40288849	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA21309.hp1 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0137 a0001c0001t0026 a0001c0001t0137	a0001c0001t0026g0085 a0001c0001t0137g0067 a0001c0001t0026g0085 a0001c0001t0137g0067	2	229	0.0087	28	c.180 others(51): Show c.1809-110357_1809-110356insCATATATATATATATATATATA TATATA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A2_chr19_47423017_47476893	47439603	C C	CTCCTTCC others(21): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA20300.hp2 HG04184.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0244 a0001c0002t0003g0207 a0001c0001t0002g0244 a0001c0002t0003g0207	2	182	0.0110	28	c.188 others(47): Show c.1885+1565_1885+1566insAGGAAGGAAGGAAGGAAGGAAGGAAG GA	SLC8A2	ENSG00000118160.14	transcript	ENST00000236877.11	protein_coding	6/9			chr19	TogoVar
SLC8A2_chr19_47423017_47476893	47439617	T T	TCTTCCTT others(21): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19043.hp2 HG03453.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0028 a0001c0001t0007g0209 a0001c0001t0003g0028 a0001c0001t0007g0209	2	14	0.1429	28	c.188 others(47): Show c.1885+1551_1885+1552insGAAGGAAGGAAGGAAGGAAGGAAGGA AG	SLC8A2	ENSG00000118160.14	transcript	ENST00000236877.11	protein_coding	6/9			chr19	TogoVar
SLC9A1_chr1_27093809_27160125	27131947	A A	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0057	1	106	0.0094	28	c.353 others(47): Show c.353-17662_353-17661insATATATATATATATATATATATTTTT TT	SLC9A1	ENSG00000090020.11	transcript	ENST00000263980.8	protein_coding	1/11			chr1	TogoVar
SLC9A2_chr2_102614553_102716355	102646768	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02723.hp2 HG03942.hp2 HG02572.hp2 HG02723.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0090 a0001c0001t0002g0093 a0001c0001t0011g0297 a0001c0001t0001g0090 a0001c0001t0002g0093 a0001c0001t0011g0297	3	99	0.0303	28	c.290 others(47): Show c.290-10774_290-10773insATATATATATATATATATATATATAT AT	SLC9A2	ENSG00000115616.3	transcript	ENST00000233969.3	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC9A3_chr5_465456_529449	507166	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG04115.hp2 NA18906.hp1 HG02145.hp2 HG04115.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0009 a0001c0001t0001 a0001c0009t0009	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0009t0009g0090 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0009t0009g0090	3	43	0.0698	28	c.212 others(47): Show c.212-15096_212-15095insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	515811	A A	ACACACAC others(21): Show ACACACACACACACACTCCCCCTGCCCCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02896.hp1 HG02896.hp2 others(1): Show HG02257.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(1): Show a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0008t0001g0158	4	215	0.0186	28	c.211 others(45): Show c.211+8300_211+8301insAGGGGCAGGGGGAGTGTGTGTGTGTGTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	528381	G G	GCTGCGGG others(21): Show GCTGCGGGGCGTGGGGGGGGTCGTGCGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01261.hp2 HG03688.hp2 HG00597.hp2 HG01261.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0030 a0001c0001 a0001c0030	a0001c0001t0001 a0001c0030t0008 a0001c0001t0001 a0001c0030t0008	a0001c0001t0001g0014 a0001c0001t0001g0122 a0001c0030t0008g0150 a0001c0001t0001g0014 a0001c0001t0001g0122 a0001c0030t0008g0150	3	40	0.0750	28	c.-40 others(39): Show c.-4060_-4059insAGCGCACGACCCCCCCCACGCCCCGCAG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding		3933		chr5	TogoVar
SLC9A7_chrX_46594251_46764118	46730670	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0249 a0001c0002t0002g0249	1	10	0.1000	28	c.325 others(47): Show c.325+28007_325+28034dupTATATATATATATATATATATATATA TA	SLC9A7	ENSG00000065923.10	transcript	ENST00000616978.5	protein_coding	1/16			chrX	TogoVar
SLC9A8_chr20_49807828_49897242	49884274	G G	GACACACA others(21): Show GACACACACACACGACACACACACACGAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0321 a0001c0003t0001g0321	1	271	0.0037	28	c.149 others(45): Show c.1491+220_1491+221insGACACACACACACGACACACACACACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A9_chr3_143260222_143853468	143449494	T T	TATAATTA others(21): Show TATAATTATATAAAATATAATTATATAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03098.hp1 NA18942.hp2 HG02257.hp1 HG03098.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0002t0002 a0001c0010t0020 a0001c0001t0001 a0001c0002t0002 a0001c0010t0020	a0001c0001t0001g0083 a0001c0002t0002g0003 a0001c0010t0020g0034 a0001c0001t0001g0083 a0001c0002t0002g0003 a0001c0010t0020g0034	3	102	0.0294	28	c.146 others(49): Show c.1469+17542_1469+17543insTTTATATAATTATATTTTATATAA TTAT	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SLC9A9_chr3_143260222_143853468	143449644	A A	AATATAAT others(21): Show AATATAATTATATAAAATATAATTATATT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	104	0.0096	28	c.146 others(49): Show c.1469+17365_1469+17392dupAATATAATTATATTTTATATAATT ATAT	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SLC9A9_chr3_143260222_143853468	143764971	T T	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18522.hp1 HG03041.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0006 a0001c0001t0009g0085 a0001c0001t0001g0006 a0001c0001t0009g0085	2	46	0.0435	28	c.533 others(47): Show c.533+30002_533+30029dupGGAAGGAAGGAAGGAAGGAAGGAAGG AA	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	4/15			chr3	TogoVar
SLC9B1_chr4_102895928_103024705	102905209	G G	GTTTATTT others(21): Show GTTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03017.hp2 HG02145.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0226 a0001c0001t0001g0028 a0001c0001t0001g0226	2	111	0.0180	28	c.133 others(45): Show c.1332+304_1332+305insTAAATAAATAAATAAATAAATAAATAAA	SLC9B1	ENSG00000164037.17	transcript	ENST00000296422.12	protein_coding	11/11			chr4	TogoVar
SLC9C1_chr3_112135898_112299216	112271393	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01433.hp2 HG02074.hp1 others(6): Show HG01099.hp1 HG01433.hp2 HG02074.hp1 HG02602.hp1 HG03453.hp2 HG04115.hp1 HG04228.hp1 NA18955.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0064 a0001c0002t0001g0090 others(6): Show a0001c0002t0001g0053 a0001c0002t0001g0064 a0001c0002t0001g0090 a0001c0002t0001g0118 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0132 a0001c0002t0001g0307 a0001c0002t0001g0324	9	155	0.0581	28	c.614 others(45): Show c.614-1317_614-1316insTATATATATATATATATATATATATATA	SLC9C1	ENSG00000172139.15	transcript	ENST00000305815.10	protein_coding	6/28			chr3	TogoVar

Search by Variant

Search

Search Results