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
MDGA2_chr14_46835092_47680605	47370468	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	120	0.0083	26	c.281 others(45): Show c.281-68944_281-68919dupAAAAAAAAAAAAAAAAAAAAAAAAAA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47540540	G G	GTGTGTGT others(19): Show GTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0100 a0003c0004t0001g0100	1	120	0.0083	26	c.280 others(47): Show c.280+133976_280+133977insTATATATATATATATATACACACA CA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47540540	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02683.hp1 HG02698.hp2 HG00741.hp1 HG02683.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0002g0066 a0001c0001t0003g0049 a0001c0001t0008g0013 a0001c0001t0002g0066 a0001c0001t0003g0049 a0001c0001t0008g0013	3	120	0.0250	26	c.280 others(47): Show c.280+133976_280+133977insTATATATATATATATACACACACA CA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47540540	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0031 a0001c0001t0022g0031	1	120	0.0083	26	c.280 others(47): Show c.280+133976_280+133977insTATATATATATACACACACACACA CA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47609428	C C	CATATATA others(19): Show CATATATATATATATACATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02615.hp1 HG02818.hp2 others(1): Show HG01358.hp1 HG02615.hp1 HG02818.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0012 a0001c0001t0016 others(1): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0016 a0002c0002t0011	a0001c0001t0004g0016 a0001c0001t0012g0017 a0001c0001t0016g0002 others(1): Show a0001c0001t0004g0016 a0001c0001t0012g0017 a0001c0001t0016g0002 a0002c0002t0011g0020	4	120	0.0333	26	c.280 others(45): Show c.280+65088_280+65089insATATATATATGTATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47609428	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0028 a0001c0001t0010g0028	1	120	0.0083	26	c.280 others(45): Show c.280+65063_280+65088dupATATATATATATATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDM2_chr12_68803177_68850544	68833147	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0193 a0001c0001t0055g0193	1	388	0.0026	26	c.685 others(43): Show c.685-2681_685-2680insTATATATATATATATATATATATATA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
MDM2_chr12_68803177_68850544	68833149	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0194 a0001c0001t0014g0194	1	388	0.0026	26	c.685 others(43): Show c.685-2662_685-2661insATATATATATATATATATATATATAT	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(19): Show TTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG01099.hp1 others(18): Show HG00558.hp1 HG00609.hp1 HG01099.hp1 HG01106.hp1 HG01261.hp2 HG01975.hp1 HG02015.hp1 HG02055.hp2 HG02630.hp1 HG02896.hp2 HG03130.hp1 HG03669.hp2 HG03834.hp2 HG03927.hp1 NA18949.hp1 NA18969.hp1 NA19065.hp2 NA19076.hp2 NA19084.hp1 NA19091.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0014 a0001c0001t0016 others(3): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0078 a0001c0002t0032	a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0001g0244 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0275 a0001c0001t0001g0284 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0014g0194 a0001c0001t0014g0197 a0001c0001t0016g0267 a0001c0001t0019g0199 a0001c0001t0078g0282 a0001c0002t0032g0179	21	388	0.0541	26	c.73 others(37): Show c.7347_*7348insTATATATATATATATATATATATATA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding		1653		chr12	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	290	0.0035	26	c.139 others(45): Show c.13956+748_13956+749insAAAAAAAAAAAAAATATATATATATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89734690	C C	CGAGAGAG others(19): Show CGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	290	0.0035	26	c.472 others(45): Show c.4724-1916_4724-1915insTCTCTCTCTCTCTCTCTCTCTCTCTC	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	33/101			chr6	TogoVar
ME1_chr6_83205402_83436051	83238797	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA20300.hp2 HG01123.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0149 a0001c0001t0001g0073 a0001c0001t0001g0149	2	272	0.0074	26	c.912 others(41): Show c.912+741_912+742insATATATATATATATATATATATATAT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	8/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83283227	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03486.hp1 HG02109.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0012 a0001c0003t0004 a0001c0003t0012	a0001c0003t0004g0020 a0001c0003t0012g0019 a0001c0003t0004g0020 a0001c0003t0012g0019	2	272	0.0074	26	c.705 others(45): Show c.705-29490_705-29489insTTTTTTTTTTTTTTTTTTTTTTTTTT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	272	0.0037	26	c.363 others(43): Show c.363-5797_363-5796insTATATATATATATATAGAGAGAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	272	0.0037	26	c.363 others(43): Show c.363-5797_363-5796insTATATATATATATAGAGAGAGAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	272	0.0037	26	c.363 others(43): Show c.363-5797_363-5796insTATATATATAGAGAGAGAGAGAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02735.hp2 HG02109.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0009	a0001c0001t0001g0060 a0001c0002t0009g0095 a0001c0001t0001g0060 a0001c0002t0009g0095	2	272	0.0074	26	c.363 others(43): Show c.363-5797_363-5796insTATATATAGAGAGAGAGAGAGAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	272	0.0037	26	c.363 others(43): Show c.363-5797_363-5796insTATATAGAGAGAGAGAGAGAGAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG04204.hp1 HG01891.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0191 a0001c0002t0001g0207 a0001c0001t0002g0191 a0001c0002t0001g0207	2	272	0.0074	26	c.363 others(43): Show c.363-5797_363-5796insTAGAGAGAGAGAGAGAGAGAGAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME2_chr18_50874118_50959257	50927721	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0271 a0001c0001t0024g0271	1	342	0.0029	26	c.131 others(45): Show c.1314+1829_1314+1854dupTATATATATATATATATATATATATA	ME2	ENSG00000082212.13	transcript	ENST00000321341.11	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
ME3_chr11_86436108_86677616	86475874	T T	TATATAGA others(19): Show TATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	320	0.0031	26	c.810 others(45): Show c.810-10675_810-10674insCTCTCTCTCTCTCTCTCTCTCTATAT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	7/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86475874	T T	TATATATA others(19): Show TATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03098.hp1 HG02897.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0043 a0001c0002t0001g0014 a0001c0001t0001g0043 a0001c0002t0001g0014	2	320	0.0063	26	c.810 others(45): Show c.810-10675_810-10674insCTCTCTCTCTCTCTATATATATATAT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	7/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86475874	T T	TATATATA others(19): Show TATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	320	0.0031	26	c.810 others(45): Show c.810-10675_810-10674insCTCTCTCTCTCTATATATATATATAT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	7/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86534081	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	320	0.0031	26	c.467 others(45): Show c.467+22471_467+22472insTATATATATATATATATATATATACA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	4/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86560746	G G	GTATGTGT others(19): Show GTATGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03041.hp1 HG03579.hp1 HG02258.hp1 HG03041.hp1 HG03579.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0049 a0001c0006t0001g0051 a0001c0006t0001g0052 a0001c0006t0001g0049 a0001c0006t0001g0051 a0001c0006t0001g0052	3	320	0.0094	26	c.184 others(41): Show c.184-924_184-923insTATATATATATATATATATACACATA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86560748	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03130.hp2 HG02818.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0002 a0001c0002t0002g0279 a0001c0002t0001g0002 a0001c0002t0002g0279	2	320	0.0063	26	c.184 others(41): Show c.184-926_184-925insTATATATATATATATATATATATATA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86560748	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	320	0.0031	26	c.184 others(41): Show c.184-926_184-925insTATATATATATATATATATATATACA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86560748	G G	GTGTATGT others(19): Show GTGTATGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00735.hp1 HG01261.hp1 others(5): Show HG00597.hp2 HG00735.hp1 HG01261.hp1 HG01934.hp1 HG02155.hp2 NA18960.hp2 NA19064.hp1 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0009 a0002c0008 a0001c0002 a0001c0009 a0002c0008	a0001c0002t0001 a0001c0002t0002 a0001c0009t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0009t0001 a0002c0008t0001	a0001c0002t0001g0003 a0001c0002t0001g0021 a0001c0002t0002g0228 others(5): Show a0001c0002t0001g0003 a0001c0002t0001g0021 a0001c0002t0002g0228 a0001c0002t0002g0231 a0001c0009t0001g0204 a0002c0008t0001g0054 a0002c0008t0001g0059 a0002c0008t0001g0095	8	320	0.0250	26	c.184 others(41): Show c.184-926_184-925insTATATATATATATATATACACATACA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86595306	T T	TATAGAGA others(19): Show TATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	320	0.0031	26	c.184 others(45): Show c.184-35484_184-35483insCTCTCTCTCTCTCTCTCTCTCTCTAT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86595306	T T	TATATAGA others(19): Show TATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0090 a0002c0003t0001g0090	1	320	0.0031	26	c.184 others(45): Show c.184-35484_184-35483insCTCTCTCTCTCTCTCTCTCTCTATAT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86595306	T T	TATATATA others(19): Show TATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01358.hp1 HG02683.hp2 HG00140.hp2 HG01358.hp1 HG02683.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0005 a0001c0001t0001 a0002c0003t0005	a0001c0001t0001g0169 a0001c0001t0001g0170 a0002c0003t0005g0210 a0001c0001t0001g0169 a0001c0001t0001g0170 a0002c0003t0005g0210	3	320	0.0094	26	c.184 others(45): Show c.184-35484_184-35483insCTCTCTCTCTCTCTCTCTCTATATAT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86595306	T T	TATATATA others(19): Show TATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03654.hp1 HG02258.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0168 a0001c0002t0001g0166 a0001c0001t0001g0168 a0001c0002t0001g0166	2	320	0.0063	26	c.184 others(45): Show c.184-35484_184-35483insCTCTCTCTCTCTCTCTCTATATATAT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86595306	T T	TATATATA others(19): Show TATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	320	0.0031	26	c.184 others(45): Show c.184-35484_184-35483insCTCTCTCTCTCTCTCTATATATATAT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86595306	T T	TATATATA others(19): Show TATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	320	0.0031	26	c.184 others(45): Show c.184-35484_184-35483insCTCTCTCTCTCTCTATATATATATAT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86595320	G G	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	320	0.0031	26	c.184 others(45): Show c.184-35498_184-35497insGTCTCTCTCTCTCTCTCTCTCTCTCT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86637967	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	320	0.0031	26	c.183 others(45): Show c.183+33769_183+33794dupGTGTGTGTGTGTGTGTGTGTGTGTGT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
MEAK7_chr16_84471355_84509659	84490654	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0025 a0002c0013t0025	a0002c0013t0025g0103 a0002c0013t0025g0103	1	468	0.0021	26	c.385 others(43): Show c.385-1258_385-1233dupCACACACACACACACACACACACACA	MEAK7	ENSG00000140950.16	transcript	ENST00000343629.11	protein_coding	3/7			chr16	TogoVar
MECOM_chr3_169078507_169668712	169180793	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0089 a0002c0010t0002g0089	1	160	0.0063	26	c.376 others(45): Show c.376-36962_376-36961insTATATATATATATATATATATATATA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169433641	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0111 a0001c0001t0008g0111	1	160	0.0063	26	c.38- others(43): Show c.38-52143_38-52118dupTTCTTTCTTTCTTTCTTTCTTTCTTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MED12L_chr3_151080664_151441653	151106308	T T	TTTCCTTC others(19): Show TTTCCTTCTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18964.hp2 NA18970.hp1 HG02074.hp1 NA18964.hp2 NA18970.hp1	a0001 a0006 a0001 a0006	a0001c0008 a0006c0027 a0001c0008 a0006c0027	a0001c0008t0017 a0001c0008t0048 a0006c0027t0001 a0001c0008t0017 a0001c0008t0048 a0006c0027t0001	a0001c0008t0017g0011 a0001c0008t0048g0009 a0006c0027t0001g0008 a0001c0008t0017g0011 a0001c0008t0048g0009 a0006c0027t0001g0008	3	280	0.0107	26	c.100 others(45): Show c.100-10030_100-10029insTTCCTTCTCCCCTCCCCTCCCCTCCC	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	2/44			chr3	TogoVar
MED12L_chr3_151080664_151441653	151141187	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	280	0.0036	26	c.556 others(45): Show c.556+13216_556+13217insTGTTTTTTTTTTTTTTTTTTTTTTTT	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(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0089 a0001c0004t0001g0089	1	280	0.0036	26	c.557 others(43): Show c.557-5107_557-5106insTTTTTTTTTTTTTTTTTTTTTTTTTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED13L_chr12_115953576_116282693	116096354	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG03239.hp2 HG03453.hp1 others(1): Show HG00597.hp1 HG03239.hp2 HG03453.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0071 a0001c0001t0001g0205 a0001c0001t0001g0213 others(1): Show a0001c0001t0001g0071 a0001c0001t0001g0205 a0001c0001t0001g0213 a0001c0001t0002g0094	4	254	0.0158	26	c.479 others(41): Show c.479+289_479+314dupTTTTTTTTTTTTTTTTTTTTTTTTTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116210551	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	254	0.0039	26	c.310 others(45): Show c.310+26891_310+26916dupTATATATATATATATATATATATATA	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30			chr12	TogoVar
MED13_chr17_61937605_62070278	62008016	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0080 a0001c0004t0001g0080	1	326	0.0031	26	c.196 others(45): Show c.1967+2533_1967+2534insTTTTTTTTTTTTTTTTTTTTTTTTTT	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	9/29			chr17	TogoVar
MED16_chr19_862963_898187	864060	A A	ACACACAC others(19): Show ACACACACACACACACACACACACACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0051 a0004c0010t0001g0051	1	56	0.0179	26	c.40 others(37): Show c.4040_*4041insCGTGTGTGTGTGTGTGTGTGTGTGTG	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding		3902		chr19	TogoVar
MED19_chr11_57698710_57717215	57702423	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG02486.hp2 HG00140.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0006 a0001c0001t0001g0009	2	380	0.0053	26	c.16 others(37): Show c.1614_*1615insATATATATATATATATATATATATAT	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		1286		chr11	TogoVar
MED19_chr11_57698710_57717215	57702425	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	380	0.0026	26	c.16 others(37): Show c.1612_*1613insATATATATATATATATATATATATAT	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		1284		chr11	TogoVar
MED1_chr17_39399285_39456263	39433546	T T	TATATATA others(19): Show TATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0010 a0004c0007t0010	a0004c0007t0010g0007 a0004c0007t0010g0007	1	280	0.0036	26	c.500 others(41): Show c.500+702_500+703insGTATGTATATATATATATATATATAT	MED1	ENSG00000125686.12	transcript	ENST00000300651.11	protein_coding	7/16			chr17	TogoVar
MED20_chr6_41900354_41926139	41915789	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01361.hp2 HG02132.hp2 others(6): Show HG00558.hp1 HG01361.hp2 HG02132.hp2 HG03453.hp1 HG03704.hp1 NA18968.hp2 NA18973.hp1 NA18991.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0170 a0001c0001t0001g0192 a0001c0001t0002g0033 others(5): Show a0001c0001t0001g0170 a0001c0001t0001g0192 a0001c0001t0002g0033 a0001c0001t0002g0062 a0001c0001t0002g0086 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0004g0118	9	444	0.0203	26	c.169 others(41): Show c.169+995_169+996insGTGTGTGTGTGTGTGTGTGTGTGTGT	MED20	ENSG00000124641.16	transcript	ENST00000265350.9	protein_coding	2/3			chr6	TogoVar

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