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
MCU_chr10_72687143_72892694	72832934	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG01109.hp1 others(9): Show HG00140.hp2 HG00423.hp1 HG01109.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02738.hp2 HG03492.hp1 HG04204.hp1 NA18987.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0155 a0001c0001t0001g0158 others(9): Show a0001c0001t0001g0140 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0197 a0001c0001t0001g0201	12	210	0.0571	22	c.151 others(39): Show c.151-1419_151-1398dupGTGTGTGTGTGTGTGTGTGTGT	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MDFIC_chr7_114917094_115024917	114919279	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0118 a0001c0001t0025g0118	1	334	0.0030	22	c.-34 others(33): Show c.-3465_-3464insTTTTTTTTTTTTTTTTTTTTTT	MDFIC	ENSG00000135272.13	transcript	ENST00000393486.6	protein_coding		2814		chr7	TogoVar
MDFI_chr6_41633468_41659244	41656228	A A	ACACACAC others(15): Show ACACACACACACACTCACACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02074.hp1 HG02135.hp1 others(4): Show HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02155.hp1 NA18985.hp2 NA18995.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0117 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0163 a0001c0001t0001g0234 a0001c0001t0001g0265 a0001c0001t0004g0048	7	462	0.0152	22	c.26 others(33): Show c.2653_*2654insCACACACACACACTCACACACT	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding		1985		chr6	TogoVar
MDFI_chr6_41633468_41659244	41656230	A A	ACACACAC others(15): Show ACACACACACACACTCACACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0279 a0004c0007t0001g0279	1	462	0.0022	22	c.26 others(33): Show c.2655_*2656insCACACACACACACTCACACACT	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding		1987		chr6	TogoVar
MDGA1_chr6_37625679_37702883	37664600	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02109.hp2 HG00741.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0008 a0001c0002t0003 a0001c0003t0008	a0001c0002t0003g0167 a0001c0003t0008g0176 a0001c0002t0003g0167 a0001c0003t0008g0176	2	402	0.0050	22	c.68- others(35): Show c.68-516_68-495dupGTGTGTGTGTGTGTGTGTGTGT	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding	1/16			chr6	TogoVar
MDGA1_chr6_37625679_37702883	37664842	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18956.hp1 NA18957.hp1 others(1): Show HG02155.hp1 NA18956.hp1 NA18957.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0051 a0001c0001t0001 a0001c0001t0004 a0001c0001t0051	a0001c0001t0001g0259 a0001c0001t0001g0271 a0001c0001t0004g0291 others(1): Show a0001c0001t0001g0259 a0001c0001t0001g0271 a0001c0001t0004g0291 a0001c0001t0051g0031	4	402	0.0100	22	c.68- others(35): Show c.68-758_68-737dupGTGTGTGTGTGTGTGTGTGTGT	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding	1/16			chr6	TogoVar
MDGA1_chr6_37625679_37702883	37698174	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	402	0.0025	22	c.-13 others(33): Show c.-1364_-1363insGAGAGAGAGAGAGAGAGAGAGA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		292		chr6	TogoVar
MDGA1_chr6_37625679_37702883	37698180	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	402	0.0025	22	c.-13 others(33): Show c.-1391_-1370dupGAGAGAGAGAGAGAGAGAGAGA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		298		chr6	TogoVar
MDGA2_chr14_46835092_47680605	46938540	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01496.hp1 HG01517.hp2 HG01169.hp1 HG01496.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0079 a0001c0001t0003g0092 a0001c0001t0003g0058 a0001c0001t0003g0079 a0001c0001t0003g0092	3	120	0.0250	22	c.209 others(43): Show c.2090-18381_2090-18380insTTTTTTTTTTTTTTTTTTTTTT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	9/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47079727	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0103 a0001c0008t0005g0103	1	120	0.0083	22	c.119 others(43): Show c.1195+17105_1195+17126dupAAAAAAAAAAAAAAAAAAAAAA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	6/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47461269	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0018 a0001c0001t0008g0018	1	120	0.0083	22	c.281 others(43): Show c.281-159741_281-159720dupCACACACACACACACACACACA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47540540	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	120	0.0083	22	c.280 others(43): Show c.280+133976_280+133977insTATATATACACACACACACACA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47549343	A A	ATCTCTCT others(15): Show ATCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	120	0.0083	22	c.280 others(43): Show c.280+125152_280+125173dupGAGAGAGAGAGAGAGAGAGAGA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47609428	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG01261.hp1 others(7): Show HG00323.hp2 HG00735.hp1 HG01261.hp1 HG02135.hp1 HG02559.hp2 HG02615.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp2 NA18966.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0015 a0003c0003t0002 a0003c0003t0003	a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0085 others(7): Show a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0085 a0001c0001t0002g0040 a0001c0001t0002g0083 a0001c0001t0003g0038 a0001c0001t0010g0026 a0001c0001t0015g0046 a0003c0003t0002g0036 a0003c0003t0003g0034	10	120	0.0833	22	c.280 others(41): Show c.280+65067_280+65088dupATATATATATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47673632	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	120	0.0083	22	c.280 others(37): Show c.280+863_280+884dupCACACACACACACACACACACA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDM2_chr12_68803177_68850544	68833149	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0205 a0001c0001t0023g0205	1	388	0.0026	22	c.685 others(39): Show c.685-2662_685-2661insATATATATATATATATATATAT	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
MDM2_chr12_68803177_68850544	68847196	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01175.hp1 HG01257.hp2 others(13): Show HG01167.hp2 HG01175.hp1 HG01257.hp2 HG01361.hp2 HG01433.hp1 HG02129.hp2 HG02572.hp1 HG03209.hp2 HG03942.hp2 HG04199.hp2 NA18954.hp1 NA18966.hp2 NA18981.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0016 others(4): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0016 a0001c0001t0022 a0001c0001t0027 a0001c0001t0058 a0001c0001t0073	a0001c0001t0001g0037 a0001c0001t0001g0250 a0001c0001t0001g0251 others(12): Show a0001c0001t0001g0037 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0014g0196 a0001c0001t0016g0241 a0001c0001t0022g0296 a0001c0001t0027g0168 a0001c0001t0058g0195 a0001c0001t0073g0260	16	388	0.0412	22	c.73 others(33): Show c.7347_*7348insTATATATATATATATATATATA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding		1653		chr12	TogoVar
MDM4_chr1_204511406_204563120	204551461	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0235 a0001c0001t0061g0235	1	372	0.0027	22	c.17 others(33): Show c.1787_*1808dupTTTTTTTTTTTTTTTTTTTTTT	MDM4	ENSG00000198625.14	transcript	ENST00000367182.8	protein_coding	11/11	1809	INFO_REALIGN_3_PRIME	chr1	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0081 a0004c0009t0001g0081	1	290	0.0035	22	c.139 others(41): Show c.13956+748_13956+749insAATATATATATATATATATATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	290	0.0035	22	c.139 others(41): Show c.13956+748_13956+749insAAAAAAAATATATATATATATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89734690	C C	CGAGAGAG others(15): Show CGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00642.hp1 HG00735.hp1 others(8): Show HG00597.hp2 HG00642.hp1 HG00735.hp1 HG01070.hp2 HG01175.hp1 HG01975.hp2 HG01993.hp1 HG02071.hp1 HG02129.hp1 NA19003.hp1 NA19009.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0006 a0001c0001 a0007c0006	a0001c0001t0001 a0007c0006t0001 a0001c0001t0001 a0007c0006t0001	a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0189 others(8): Show a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0230 a0001c0001t0001g0285 a0007c0006t0001g0267	11	290	0.0379	22	c.472 others(41): Show c.4724-1916_4724-1915insTCTCTCTCTCTCTCTCTCTCTC	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	33/101			chr6	TogoVar
ME1_chr6_83205402_83436051	83238797	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	272	0.0037	22	c.912 others(37): Show c.912+741_912+742insATATATATATATATATATATAT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	8/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83283227	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(4): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG01106.hp2 HG01192.hp2 HG01516.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(4): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0071 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0003g0238	7	272	0.0257	22	c.705 others(41): Show c.705-29490_705-29489insTTTTTTTTTTTTTTTTTTTTTT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(15): Show CTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	272	0.0037	22	c.363 others(39): Show c.363-5797_363-5796insTATATATATATATATAGAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0225 a0001c0001t0010g0225	1	272	0.0037	22	c.363 others(39): Show c.363-5797_363-5796insTATATATATAGAGAGAGAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	272	0.0037	22	c.363 others(39): Show c.363-5797_363-5796insTATATATAGAGAGAGAGAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	272	0.0037	22	c.363 others(39): Show c.363-5797_363-5796insTATATAGAGAGAGAGAGAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	272	0.0037	22	c.363 others(39): Show c.363-5797_363-5796insTATAGAGAGAGAGAGAGAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83376804	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01358.hp2 HG01496.hp2 others(2): Show HG00099.hp2 HG01358.hp2 HG01496.hp2 HG02132.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0004	a0001c0001t0001g0068 a0001c0001t0002g0014 a0001c0001t0002g0197 others(2): Show a0001c0001t0001g0068 a0001c0001t0002g0014 a0001c0001t0002g0197 a0001c0001t0003g0253 a0001c0003t0004g0090	5	272	0.0184	22	c.362 others(41): Show c.362+21562_362+21563insTTTTTTTTTTTTTTTTTTTTTT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83406971	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03041.hp1 HG03486.hp1 HG02109.hp1 HG03041.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0012 a0001c0003t0004 a0001c0003t0012	a0001c0003t0004g0020 a0001c0003t0004g0021 a0001c0003t0012g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 a0001c0003t0012g0019	3	272	0.0110	22	c.212 others(37): Show c.212+775_212+796dupGTGTGTGTGTGTGTGTGTGTGT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	2/13			chr6	TogoVar
ME2_chr18_50874118_50959257	50941353	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0028 a0001c0001t0044g0028	1	342	0.0029	22	c.158 others(39): Show c.1587+977_1587+998dupTTTTTTTTTTTTTTTTTTTTTT	ME2	ENSG00000082212.13	transcript	ENST00000321341.11	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
ME3_chr11_86436108_86677616	86475874	T T	TATATATA others(15): Show TATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0102 a0001c0006t0001g0102	1	320	0.0031	22	c.810 others(41): Show c.810-10675_810-10674insCTCTCTCTCTCTATATATATAT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	7/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86475874	T T	TATATATA others(15): Show TATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	320	0.0031	22	c.810 others(41): Show c.810-10675_810-10674insCTCTCTCTCTATATATATATAT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	7/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86521425	A A	AAAATAAT others(15): Show AAAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG06807.hp1 HG02647.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0061 a0001c0001t0001g0008 a0001c0001t0001g0061	2	320	0.0063	22	c.468 others(41): Show c.468-12559_468-12558insATTATTATTATTATTATTATTT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	4/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86521431	A A	ATAATAAT others(15): Show ATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	320	0.0031	22	c.468 others(41): Show c.468-12565_468-12564insATTATTATTATTATTATTATTA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	4/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86560746	G G	GTATGTGT others(15): Show GTATGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19085.hp2 NA21309.hp2 HG02965.hp2 NA19085.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0002 a0001c0002t0002 a0002c0004t0003 a0001c0001t0002 a0001c0002t0002 a0002c0004t0003	a0001c0001t0002g0294 a0001c0002t0002g0261 a0002c0004t0003g0208 a0001c0001t0002g0294 a0001c0002t0002g0261 a0002c0004t0003g0208	3	320	0.0094	22	c.184 others(37): Show c.184-924_184-923insTATATATATATATATACACATA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86560748	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0137	1	320	0.0031	22	c.184 others(37): Show c.184-947_184-926dupTATATATATATATATATATATA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86560748	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0044 a0002c0007t0001g0044	1	320	0.0031	22	c.184 others(37): Show c.184-926_184-925insTATATATATATATATATATACA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86560748	G G	GTGTATGT others(15): Show GTGTATGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0271 a0001c0002t0002g0271	1	320	0.0031	22	c.184 others(37): Show c.184-926_184-925insTATATATATATATACACATACA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
MEAK7_chr16_84471355_84509659	84490653	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01496.hp1 HG02698.hp2 others(4): Show HG01169.hp1 HG01496.hp1 HG02698.hp2 HG03017.hp1 HG03579.hp2 NA18986.hp2 NA20129.hp1	a0001 a0022 a0001 a0022	a0001c0001 a0001c0005 a0022c0031 a0001c0001 a0001c0005 a0022c0031	a0001c0001t0003 a0001c0001t0013 a0001c0001t0035 others(4): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0035 a0001c0001t0068 a0001c0005t0072 a0001c0005t0140 a0022c0031t0219	a0001c0001t0003g0244 a0001c0001t0013g0256 a0001c0001t0035g0207 others(4): Show a0001c0001t0003g0244 a0001c0001t0013g0256 a0001c0001t0035g0207 a0001c0001t0068g0245 a0001c0005t0072g0043 a0001c0005t0140g0433 a0022c0031t0219g0111	7	468	0.0150	22	c.385 others(39): Show c.385-1232_385-1231insACACACACACACACACACACAC	MEAK7	ENSG00000140950.16	transcript	ENST00000343629.11	protein_coding	3/7			chr16	TogoVar
MEAK7_chr16_84471355_84509659	84490654	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG03139.hp2 HG02280.hp1 HG02559.hp1 HG03139.hp2	a0002 a0015 a0002 a0015	a0002c0008 a0015c0026 a0002c0008 a0015c0026	a0002c0008t0020 a0002c0008t0227 a0015c0026t0224 a0002c0008t0020 a0002c0008t0227 a0015c0026t0224	a0002c0008t0020g0373 a0002c0008t0227g0445 a0015c0026t0224g0448 a0002c0008t0020g0373 a0002c0008t0227g0445 a0015c0026t0224g0448	3	468	0.0064	22	c.385 others(39): Show c.385-1254_385-1233dupCACACACACACACACACACACA	MEAK7	ENSG00000140950.16	transcript	ENST00000343629.11	protein_coding	3/7			chr16	TogoVar
MECOM_chr3_169078507_169668712	169180794	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0071 a0002c0002t0004g0071	1	160	0.0063	22	c.376 others(41): Show c.376-36963_376-36962insATATATATATATATATATATAT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169441728	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01243.hp2 HG02809.hp2 others(4): Show HG01099.hp2 HG01243.hp2 HG02809.hp2 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA19007.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0005c0014	a0001c0001t0006 a0001c0001t0010 a0001c0001t0021 others(4): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0021 a0001c0001t0049 a0001c0006t0003 a0002c0002t0013 a0005c0014t0019	a0001c0001t0006g0118 a0001c0001t0010g0077 a0001c0001t0021g0150 others(4): Show a0001c0001t0006g0118 a0001c0001t0010g0077 a0001c0001t0021g0150 a0001c0001t0049g0155 a0001c0006t0003g0035 a0002c0002t0013g0047 a0005c0014t0019g0012	7	160	0.0438	22	c.38- others(39): Show c.38-60205_38-60204insAAAAAAAAAAAAAAAAAAAAAA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169594174	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	160	0.0063	22	c.37+ others(39): Show c.37+69161_37+69162insGTTTTTTTTTTTTTTTTTTTTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECP2_chrX_154016573_154102717	154037185	T T	TATATATA others(15): Show TATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0202 a0001c0001t0015g0202	1	230	0.0044	22	c.27- others(37): Show c.27-4629_27-4628insGTGTGTATATATATATATATAT	MECP2	ENSG00000169057.25	transcript	ENST00000303391.11	protein_coding	2/3			chrX	TogoVar
MED12L_chr3_151080664_151441653	151141179	T T	TTTGTTTG others(15): Show TTTGTTTGTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0011 a0001c0014t0011	a0001c0014t0011g0105 a0001c0014t0011g0105	1	280	0.0036	22	c.556 others(41): Show c.556+13197_556+13198insGTTTGTTTTTTTTTTTTTTGTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151151031	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19010.hp1 HG02886.hp2 NA19010.hp1	a0001 a0008 a0001 a0008	a0001c0013 a0008c0028 a0001c0013 a0008c0028	a0001c0013t0050 a0008c0028t0054 a0001c0013t0050 a0008c0028t0054	a0001c0013t0050g0109 a0008c0028t0054g0006 a0001c0013t0050g0109 a0008c0028t0054g0006	2	280	0.0071	22	c.557 others(39): Show c.557-5128_557-5107dupTTTTTTTTTTTTTTTTTTTTTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151270196	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0121 a0001c0001t0013g0121	1	280	0.0036	22	c.225 others(43): Show c.2250+76555_2250+76576dupGTGTGTGTGTGTGTGTGTGTGT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151375970	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0232 a0001c0002t0002g0232	1	280	0.0036	22	c.386 others(37): Show c.3865-45_3865-44insTATATATATATATATATATATA	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	27/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED13L_chr12_115953576_116282693	116031759	A A	AGAAAAGA others(15): Show AGAAAAGAAAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0144 a0001c0001t0005g0144	1	254	0.0039	22	c.480 others(39): Show c.480-9159_480-9158insCTTCCTTCCTTCTTTTCTTTTC	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar

Search by Variant

Search

Search Results