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
MCU_chr10_72687143_72892694	72714345	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp1 HG02647.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0108 a0001c0001t0001g0112	2	210	0.0095	13	c.150 others(32): Show c.150+22055_150+22067dupTTTTTTTTTTTTT	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCU_chr10_72687143_72892694	72751341	C C	CTTCTTTT others(6): Show CTTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp1 HG00735.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0192 a0001c0001t0001g0150 a0001c0001t0001g0192	2	210	0.0095	13	c.150 others(32): Show c.150+59042_150+59043insCTTTTTTTTTTTT	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCU_chr10_72687143_72892694	72805159	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	210	0.0048	13	c.151 others(32): Show c.151-29199_151-29198insTTCTTTCTTTCTT	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MDFIC2_chr3_70189479_70317638	70237979	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02015.hp1 HG02071.hp1 others(17): Show HG01361.hp2 HG02015.hp1 HG02071.hp1 HG02559.hp2 HG02895.hp2 HG02970.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG04228.hp1 NA18943.hp1 NA18963.hp2 NA18971.hp1 NA18993.hp1 NA19074.hp1 NA19082.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0002c0002t0003 a0002c0002t0004	a0001c0001t0001g0058 a0001c0001t0001g0152 a0001c0001t0001g0289 others(17): Show a0001c0001t0001g0058 a0001c0001t0001g0152 a0001c0001t0001g0289 a0001c0001t0003g0151 a0001c0001t0003g0262 a0001c0001t0003g0303 a0001c0001t0005g0026 a0001c0001t0005g0131 a0001c0001t0005g0184 a0001c0001t0005g0266 a0001c0001t0005g0267 a0001c0001t0005g0330 a0001c0001t0005g0331 a0001c0001t0010g0271 a0002c0002t0003g0201 a0002c0002t0003g0203 a0002c0002t0003g0320 a0002c0002t0004g0050 a0002c0002t0004g0173 a0002c0002t0004g0227	20	370	0.0541	13	c.89- others(30): Show c.89-31202_89-31190dupAAAAAAAAAAAAA	MDFIC2	ENSG00000242120.4	transcript	ENST00000567252.2	protein_coding	2/3			chr3	TogoVar
MDFIC_chr7_114917094_115024917	114920922	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01496.hp2 HG01346.hp1 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0008 a0001c0001t0009	a0001c0001t0008g0116 a0001c0001t0009g0120 a0001c0001t0008g0116 a0001c0001t0009g0120	2	334	0.0060	13	c.-18 others(24): Show c.-1822_-1821insTTTTTTTTTTTTT	MDFIC	ENSG00000135272.13	transcript	ENST00000393486.6	protein_coding		1171		chr7	TogoVar
MDFI_chr6_41633468_41659244	41641031	T T	TGACCATT others(6): Show TGACCATTGGATTC	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	462	0.0022	13	c.76+ others(28): Show c.76+2208_76+2220dupACCATTGGATTCG	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MDGA1_chr6_37625679_37702883	37698174	T T	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0124 a0001c0002t0003g0124	1	402	0.0025	13	c.-13 others(24): Show c.-1364_-1363insGAGAGAGAGAGAG	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		292		chr6	TogoVar
MDGA1_chr6_37625679_37702883	37698230	C C	CTCTCTCT others(6): Show CTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0220	1	402	0.0025	13	c.-14 others(24): Show c.-1420_-1419insAGAGAGAGAGAGA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		348		chr6	TogoVar
MDGA1_chr6_37625679_37702883	37698231	T T	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 NA19004.hp2 HG01169.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0078 a0001c0001t0009 a0001c0002t0078	a0001c0001t0009g0003 a0001c0002t0078g0227 a0001c0001t0009g0003 a0001c0002t0078g0227	2	402	0.0050	13	c.-14 others(24): Show c.-1421_-1420insGAGAGAGAGAGAG	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		349		chr6	TogoVar
MDGA1_chr6_37625679_37702883	37701226	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0037 a0001c0003t0037	a0001c0003t0037g0042 a0001c0003t0037g0042	1	402	0.0025	13	c.-44 others(24): Show c.-4416_-4415insAAAAAAAAAAAAA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		3344		chr6	TogoVar
MDGA2_chr14_46835092_47680605	46964919	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03195.hp2 HG04184.hp2 HG01071.hp1 HG03195.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0050 a0001c0001t0001g0063 a0001c0001t0004g0016 a0001c0001t0001g0050 a0001c0001t0001g0063 a0001c0001t0004g0016	3	120	0.0250	13	c.182 others(32): Show c.1820-7289_1820-7277dupAAAAAAAAAAAAA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	46982734	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0095 a0001c0001t0014g0095	1	120	0.0083	13	c.182 others(34): Show c.1820-25092_1820-25091insATTTTTTTTTTTT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47018733	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03225.hp1 HG02896.hp2 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0114 a0002c0002t0004g0007 a0002c0002t0001g0114 a0002c0002t0004g0007	2	120	0.0167	13	c.181 others(34): Show c.1819+16265_1819+16277dupTTTTTTTTTTTTT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47079727	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0005 a0001c0001t0007g0005	1	120	0.0083	13	c.119 others(34): Show c.1195+17114_1195+17126dupAAAAAAAAAAAAA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	6/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47370468	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02559.hp1 HG00741.hp1 HG02559.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0002 a0005c0007t0004 a0001c0001t0002 a0005c0007t0004	a0001c0001t0002g0066 a0005c0007t0004g0009 a0001c0001t0002g0066 a0005c0007t0004g0009	2	120	0.0167	13	c.281 others(32): Show c.281-68931_281-68919dupAAAAAAAAAAAAA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47370497	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0035 a0004c0003t0003g0035	1	120	0.0083	13	c.281 others(32): Show c.281-68948_281-68947insCAAAAAAAAAAAA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47384015	A A	AGATAGAT others(6): Show AGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0082 a0001c0001t0006g0082	1	120	0.0083	13	c.281 others(32): Show c.281-82466_281-82465insCTATCTATCTATC	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47561174	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	120	0.0083	13	c.280 others(34): Show c.280+113342_280+113343insCAAAAAAAAAAAA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDH1_chr2_63583963_63612197	63602934	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	354	0.0028	13	c.499 others(30): Show c.499-1731_499-1719dupTTTTTTTTTTTTT	MDH1	ENSG00000014641.21	transcript	ENST00000233114.13	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
MDH2_chr7_76043106_76072508	76048983	G G	GGGGGTGG others(6): Show GGGGGTGGGGGGGT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	398	0.0025	13	c.66+ others(26): Show c.66+761_66+762insTGGGGGGGTGGGG	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
MDH2_chr7_76043106_76072508	76048984	G G	GGGGTGGG others(6): Show GGGGTGGGGGGGGT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	398	0.0025	13	c.66+ others(26): Show c.66+761_66+762insTGGGGGGGGTGGG	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
MDM2_chr12_68803177_68850544	68832374	T T	TCCCTTTT others(6): Show TCCCTTTTCATTAC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	388	0.0026	13	c.684 others(30): Show c.684+3443_684+3444insCCCTTTTCATTAC	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding	8/10			chr12	TogoVar
MDM2_chr12_68803177_68850544	68833149	A A	AAAAATAT others(6): Show AAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0204 a0001c0001t0023g0204	1	388	0.0026	13	c.685 others(30): Show c.685-2679_685-2678insAAATATATATATA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
MDM2_chr12_68803177_68850544	68833149	A A	AAATATAT others(6): Show AAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0197 a0001c0001t0014g0197	1	388	0.0026	13	c.685 others(30): Show c.685-2679_685-2678insATATATATATATA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
MDM2_chr12_68803177_68850544	68847187	G G	GTACATTA others(6): Show GTACATTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	388	0.0026	13	c.73 others(24): Show c.7338_*7339insTACATTATATATA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding		1644		chr12	TogoVar
MDM2_chr12_68803177_68850544	68847452	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02886.hp1 HG02630.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0063 a0001c0001t0036 a0001c0001t0063	a0001c0001t0036g0026 a0001c0001t0063g0153 a0001c0001t0036g0026 a0001c0001t0063g0153	2	388	0.0052	13	c.76 others(24): Show c.7603_*7604insTTTTTTTTTTTTT	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding		1909		chr12	TogoVar
MDM4_chr1_204511406_204563120	204533386	T T	TTCTGAAA others(6): Show TTCTGAAACAGGGG	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0049 a0001c0001t0019g0049	1	372	0.0027	13	c.343 others(30): Show c.343+1143_343+1144insGAAACAGGGGTCT	MDM4	ENSG00000198625.14	transcript	ENST00000367182.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
MDM4_chr1_204511406_204563120	204551461	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18949.hp2 NA18957.hp1 NA18949.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0053 a0001c0001t0052 a0001c0001t0053	a0001c0001t0052g0229 a0001c0001t0053g0036 a0001c0001t0052g0229 a0001c0001t0053g0036	2	372	0.0054	13	c.17 others(24): Show c.1796_*1808dupTTTTTTTTTTTTT	MDM4	ENSG00000198625.14	transcript	ENST00000367182.8	protein_coding	11/11	1809	INFO_REALIGN_3_PRIME	chr1	TogoVar
MDN1_chr6_89637498_89824794	89670166	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	290	0.0035	13	c.139 others(32): Show c.13956+752_13956+753insAAAAAAAAAAAAA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA21309.hp1 NA19030.hp1 NA21309.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0016 a0001c0001 a0013c0016	a0001c0001t0001 a0013c0016t0001 a0001c0001t0001 a0013c0016t0001	a0001c0001t0001g0061 a0013c0016t0001g0252 a0001c0001t0001g0061 a0013c0016t0001g0252	2	290	0.0069	13	c.139 others(32): Show c.13956+748_13956+749insAAAAATATATATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89734691	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0194 a0003c0003t0001g0194	1	290	0.0035	13	c.472 others(32): Show c.4724-1917_4724-1916insCTCTCTCTCTCTC	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	33/101			chr6	TogoVar
ME1_chr6_83205402_83436051	83237227	A A	AGAAAGAA others(6): Show AGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	272	0.0037	13	c.102 others(30): Show c.1026+489_1026+490insCTTTCTTTCTTTC	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	9/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83283227	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03486.hp2 NA19030.hp2 HG01109.hp2 HG03486.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0010	3	272	0.0110	13	c.705 others(32): Show c.705-29502_705-29490dupTTTTTTTTTTTTT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83298931	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19058.hp1 NA19075.hp2 NA18946.hp2 NA19058.hp1 NA19075.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0220 a0002c0004t0005g0224 a0002c0004t0005g0226 a0002c0004t0005g0220 a0002c0004t0005g0224 a0002c0004t0005g0226	3	272	0.0110	13	c.704 others(32): Show c.704+16366_704+16378dupAAAAAAAAAAAAA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83349015	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0015 a0001c0003t0001g0015	1	272	0.0037	13	c.439 others(30): Show c.439-2682_439-2681insGTTTTTTTTTTTT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	4/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83388091	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03516.hp1 HG02897.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0204 a0001c0002t0001g0079 a0001c0002t0001g0204	2	272	0.0074	13	c.362 others(32): Show c.362+10275_362+10276insAAAAAAAAAAAAA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME2_chr18_50874118_50959257	50941353	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19030.hp2 HG03225.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0107 a0001c0001t0086 a0001c0001t0107	a0001c0001t0086g0116 a0001c0001t0107g0202 a0001c0001t0086g0116 a0001c0001t0107g0202	2	342	0.0059	13	c.158 others(30): Show c.1587+986_1587+998dupTTTTTTTTTTTTT	ME2	ENSG00000082212.13	transcript	ENST00000321341.11	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
ME2_chr18_50874118_50959257	50950467	C C	CTTTTTTT others(6): Show CTTTTTTTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0139 a0001c0001t0139	a0001c0001t0139g0215 a0001c0001t0139g0215	1	342	0.0029	13	c.32 others(24): Show c.3292_*3293insCTTTTTTTTTTTT	ME2	ENSG00000082212.13	transcript	ENST00000321341.11	protein_coding	16/16	3293	INFO_REALIGN_3_PRIME	chr18	TogoVar
ME2_chr18_50874118_50959257	50950467	C C	CTTTTTTT others(6): Show CTTTTTTTTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0156 a0001c0001t0156	a0001c0001t0156g0267 a0001c0001t0156g0267	1	342	0.0029	13	c.32 others(24): Show c.3293_*3294insCTTTTTTTTTTTT	ME2	ENSG00000082212.13	transcript	ENST00000321341.11	protein_coding	16/16	3294	INFO_REALIGN_3_PRIME	chr18	TogoVar
ME2_chr18_50874118_50959257	50950467	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG03579.hp2 NA21309.hp1 HG01891.hp2 HG03579.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0044 a0001c0001t0026 a0001c0001t0044	a0001c0001t0026g0002 a0001c0001t0026g0030 a0001c0001t0044g0028 a0001c0001t0026g0002 a0001c0001t0026g0030 a0001c0001t0044g0028	3	342	0.0088	13	c.32 others(24): Show c.3299_*3311dupTTTTTTTTTTTTT	ME2	ENSG00000082212.13	transcript	ENST00000321341.11	protein_coding	16/16	3312	INFO_REALIGN_3_PRIME	chr18	TogoVar
ME3_chr11_86436108_86677616	86521425	A A	AAAATAAT others(6): Show AAAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02698.hp1 HG02723.hp2 others(13): Show HG02572.hp1 HG02698.hp1 HG02723.hp2 HG03927.hp2 NA18747.hp1 NA18946.hp2 NA18962.hp2 NA18963.hp1 NA18983.hp1 NA18993.hp2 NA19002.hp1 NA19011.hp1 NA19060.hp2 NA19066.hp2 NA19081.hp1 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0004t0003 a0002c0008t0003	a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0140 others(13): Show a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0002g0234 a0001c0002t0001g0128 a0001c0002t0002g0260 a0002c0004t0003g0209 a0002c0008t0003g0007	16	320	0.0500	13	c.468 others(32): Show c.468-12559_468-12558insATTATTATTATTT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	4/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86567243	A A	AAAAGGAA others(6): Show AAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	320	0.0031	13	c.184 others(30): Show c.184-7421_184-7420insCCTTCCTTCCTTT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86624375	T T	TGGATTCT others(6): Show TGGATTCTCTGACA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	320	0.0031	13	c.183 others(32): Show c.183+47374_183+47386dupTGTCAGAGAATCC	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
MECOM_chr3_169078507_169668712	169097817	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03704.hp1 NA19060.hp1 HG00544.hp1 HG03704.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0033 a0001c0001t0037 a0001c0001t0013 a0001c0001t0033 a0001c0001t0037	a0001c0001t0013g0044 a0001c0001t0033g0018 a0001c0001t0037g0034 a0001c0001t0013g0044 a0001c0001t0033g0018 a0001c0001t0037g0034	3	160	0.0188	13	c.285 others(32): Show c.2850-2585_2850-2573dupTTTTTTTTTTTTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	12/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169482329	T T	TTTTTGTT others(6): Show TTTTTGTTTTTTTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18522.hp1 HG03225.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0031 a0001c0001t0012g0028 a0001c0001t0003g0031 a0001c0001t0012g0028	2	160	0.0125	13	c.38- others(32): Show c.38-100806_38-100805insGAAAAAAACAAAA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169507650	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01496.hp2 HG03704.hp1 others(3): Show HG01255.hp1 HG01496.hp2 HG03704.hp1 NA18960.hp2 NA19060.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 others(3): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0036 a0002c0002t0001	a0001c0001t0004g0067 a0001c0001t0011g0022 a0001c0001t0013g0044 others(3): Show a0001c0001t0004g0067 a0001c0001t0011g0022 a0001c0001t0013g0044 a0001c0001t0014g0147 a0001c0001t0036g0025 a0002c0002t0001g0046	6	160	0.0375	13	c.38- others(32): Show c.38-126139_38-126127dupAAAAAAAAAAAAA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169533591	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02615.hp2 HG02717.hp1 others(7): Show HG00741.hp1 HG02615.hp2 HG02717.hp1 HG02896.hp1 HG02965.hp2 HG03225.hp2 HG03471.hp2 HG06807.hp1 NA19030.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0016 a0001c0003t0005 a0001c0003t0006 a0001c0004t0008 a0001c0004t0052 a0002c0010t0014	a0001c0001t0001g0048 a0001c0001t0003g0037 a0001c0001t0006g0124 others(7): Show a0001c0001t0001g0048 a0001c0001t0003g0037 a0001c0001t0006g0124 a0001c0001t0009g0141 a0001c0001t0016g0069 a0001c0003t0005g0097 a0001c0003t0006g0122 a0001c0004t0008g0109 a0001c0004t0052g0158 a0002c0010t0014g0149	10	160	0.0625	13	c.37+ others(32): Show c.37+129744_37+129745insGTAAAAAAAAAAA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169659083	A A	AAAGAAAA others(6): Show AAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01243.hp1 HG02257.hp2 others(10): Show HG00738.hp1 HG01243.hp1 HG02257.hp2 HG02559.hp2 HG02630.hp2 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03486.hp1 HG03516.hp1 NA19007.hp2 NA19011.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(9): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0034 a0001c0001t0049 a0001c0003t0044 a0001c0004t0009 a0002c0002t0043 a0002c0002t0047	a0001c0001t0004g0073 a0001c0001t0006g0125 a0001c0001t0007g0134 others(10): Show a0001c0001t0004g0073 a0001c0001t0006g0125 a0001c0001t0007g0134 a0001c0001t0007g0135 a0001c0001t0009g0145 a0001c0001t0011g0023 a0001c0001t0017g0112 a0001c0001t0034g0020 a0001c0001t0049g0155 a0001c0003t0044g0138 a0001c0004t0009g0144 a0002c0002t0043g0126 a0002c0002t0047g0153	13	160	0.0813	13	c.37+ others(28): Show c.37+4252_37+4253insCTTTTCTTTTCTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECP2_chrX_154016573_154102717	154048306	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02055.hp1 HG02615.hp2 others(3): Show HG00642.hp1 HG02055.hp1 HG02615.hp2 HG02976.hp1 HG06807.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0025 a0001c0001t0060 a0001c0001t0004 a0001c0001t0025 a0001c0001t0060	a0001c0001t0004g0198 a0001c0001t0004g0200 a0001c0001t0004g0204 others(3): Show a0001c0001t0004g0198 a0001c0001t0004g0200 a0001c0001t0004g0204 a0001c0001t0004g0226 a0001c0001t0025g0006 a0001c0001t0060g0100	6	230	0.0261	13	c.27- others(30): Show c.27-15762_27-15750dupTTTTTTTTTTTTT	MECP2	ENSG00000169057.25	transcript	ENST00000303391.11	protein_coding	2/3			chrX	TogoVar
MED11_chr17_4726428_4738607	4732420	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0019 a0001c0001t0006g0019	1	432	0.0023	13	c.216 others(28): Show c.216+515_216+527dupAAAAAAAAAAAAA	MED11	ENSG00000161920.11	transcript	ENST00000293777.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr17	TogoVar

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