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
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01993.hp2 NA21309.hp2 HG01928.hp1 HG01993.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0067 a0001c0001t0021 a0001c0001t0067	a0001c0001t0021g0306 a0001c0001t0021g0308 a0001c0001t0067g0018 a0001c0001t0021g0306 a0001c0001t0021g0308 a0001c0001t0067g0018	3	340	0.0088	21	c.41 others(32): Show c.4153_*4154insATATATATATATATTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190750	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	340	0.0029	21	c.176 others(40): Show c.1768+1452_1768+1453insATATATATATATATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16			chr17	TogoVar
MBTPS1_chr16_84048763_84121942	84055014	G G	GGGGAGAA others(14): Show GGGGAGAAGGAGGGGCCATCCA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	424	0.0024	21	c.296 others(38): Show c.2963-370_2963-369insTGGATGGCCCCTCCTTCTCCC	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding	22/22			chr16	TogoVar
MBTPS2_chrX_21834617_21890423	21879949	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02976.hp2 HG03927.hp1 others(2): Show HG02109.hp2 HG02976.hp2 HG03927.hp1 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0018 a0001c0001t0001g0135 a0001c0001t0001g0187 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0135 a0001c0001t0001g0187 a0001c0001t0001g0252 a0001c0002t0003g0027	5	308	0.0162	21	c.126 others(38): Show c.1262-947_1262-927dupTTTTTTTTTTTTTTTTTTTTT	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MC1R_chr16_89913862_89925972	89916992	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	1	396	0.0025	21	c.-22 others(32): Show c.-2267_-2266insTATATATATATATATATATTT	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		1869		chr16	TogoVar
MC1R_chr16_89913862_89925972	89916992	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	1	396	0.0025	21	c.-22 others(32): Show c.-2267_-2266insTATATATATATATATTTTTTT	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		1869		chr16	TogoVar
MC2R_chr18_13877044_13920536	13908706	T T	TTTGTGTG others(14): Show TTTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp1 HG02572.hp2 others(13): Show HG00280.hp1 HG01109.hp1 HG02572.hp2 HG02896.hp1 HG03486.hp1 HG03579.hp2 HG03704.hp1 NA18963.hp2 NA18975.hp2 NA18990.hp2 NA18995.hp1 NA19000.hp1 NA19001.hp2 NA19005.hp1 NA19074.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 others(6): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0063 a0001c0001t0085	a0001c0001t0003g0055 a0001c0001t0003g0248 a0001c0001t0003g0301 others(11): Show a0001c0001t0003g0055 a0001c0001t0003g0248 a0001c0001t0003g0301 a0001c0001t0006g0304 a0001c0001t0011g0317 a0001c0001t0011g0318 a0001c0001t0012g0303 a0001c0001t0023g0201 a0001c0001t0023g0202 a0001c0001t0025g0054 a0001c0001t0026g0249 a0001c0001t0026g0270 a0001c0001t0063g0302 a0001c0001t0085g0240	16	416	0.0385	21	c.-12 others(40): Show c.-129+6781_-129+6782insCACACACACACACACACACAA	MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding	1/1			chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	428	0.0023	21	c.-25 others(32): Show c.-2544_-2543insATATATATATATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	428	0.0023	21	c.-25 others(32): Show c.-2544_-2543insAAAAAAAAATATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	428	0.0023	21	c.-25 others(32): Show c.-2544_-2543insAAAAAAAAAAATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01943.hp2 HG02145.hp1 others(3): Show HG01257.hp2 HG01943.hp2 HG02145.hp1 HG03516.hp1 NA18952.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0001g0000 a0001c0001t0003g0000	6	428	0.0140	21	c.-25 others(32): Show c.-2544_-2543insAAAAAAAAAAAAATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MCC_chr5_113017106_113493453	113046710	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG04115.hp1 NA18957.hp1 others(2): Show HG02145.hp1 HG04115.hp1 NA18957.hp1 NA19010.hp1 NA19058.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0002c0013 a0002c0056 others(1): Show a0002c0001 a0002c0013 a0002c0056 a0004c0019	a0002c0001t0003 a0002c0013t0003 a0002c0056t0003 others(1): Show a0002c0001t0003 a0002c0013t0003 a0002c0056t0003 a0004c0019t0003	a0002c0001t0003g0126 a0002c0001t0003g0136 a0002c0013t0003g0141 others(2): Show a0002c0001t0003g0126 a0002c0001t0003g0136 a0002c0013t0003g0141 a0002c0056t0003g0135 a0004c0019t0003g0113	5	160	0.0313	21	c.265 others(40): Show c.2655+2382_2655+2383insCTTTTTTTTTTTTTTTTTTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	16/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113327557	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0035 a0001c0004t0035	a0001c0004t0035g0084 a0001c0004t0035g0084	1	160	0.0063	21	c.627 others(40): Show c.627+12961_627+12962insATATATATATATATATATATA	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113327561	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0033 a0001c0010t0005g0033	1	160	0.0063	21	c.627 others(40): Show c.627+12957_627+12958insATATATATATATATATATTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113354802	A A	ATTATTAT others(14): Show ATTATTATTATTATTATTATTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01258.hp1 others(7): Show HG00323.hp1 HG00639.hp2 HG01258.hp1 NA18945.hp2 NA18947.hp2 NA18977.hp1 NA18998.hp1 NA19001.hp1 NA20752.hp2 NA20805.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0001 a0003c0006 a0003c0034 others(2): Show a0002c0001 a0003c0006 a0003c0034 a0003c0038 a0006c0059	a0002c0001t0004 a0003c0006t0001 a0003c0006t0002 others(3): Show a0002c0001t0004 a0003c0006t0001 a0003c0006t0002 a0003c0034t0002 a0003c0038t0005 a0006c0059t0001	a0002c0001t0004g0157 a0002c0001t0004g0158 a0003c0006t0001g0011 others(7): Show a0002c0001t0004g0157 a0002c0001t0004g0158 a0003c0006t0001g0011 a0003c0006t0002g0013 a0003c0006t0002g0015 a0003c0006t0002g0016 a0003c0006t0002g0017 a0003c0034t0002g0012 a0003c0038t0005g0014 a0006c0059t0001g0160	10	160	0.0625	21	c.416 others(40): Show c.416-14073_416-14072insCAATAATAATAATAATAATAA	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	2/18			chr5	TogoVar
MCEE_chr2_71104687_71135229	71125211	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19088.hp2 NA18957.hp2 NA19088.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0062 a0003c0003t0001g0062	2	418	0.0048	21	c.41- others(34): Show c.41-669_41-668insAAAAAAATATATATATATATA	MCEE	ENSG00000124370.11	transcript	ENST00000244217.6	protein_coding	1/2			chr2	TogoVar
MCEMP1_chr19_7672090_7684829	7674859	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18945.hp1 NA18953.hp1 others(5): Show NA18942.hp2 NA18945.hp1 NA18953.hp1 NA18979.hp1 NA19067.hp1 NA19068.hp1 NA19084.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0004g0013	8	448	0.0179	21	c.-22 others(32): Show c.-2262_-2261insTTTTTTTTTTTTTTTTTTTTT	MCEMP1	ENSG00000183019.8	transcript	ENST00000333598.8	protein_coding		2230		chr19	TogoVar
MCF2L2_chr3_183173041_183433619	183269230	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02976.hp2 HG03831.hp2 others(1): Show HG01361.hp2 HG02976.hp2 HG03831.hp2 NA18952.hp2	a0006 a0012 a0022 a0006 a0012 a0022	a0006c0006 a0012c0011 a0022c0024 a0006c0006 a0012c0011 a0022c0024	a0006c0006t0003 a0012c0011t0001 a0012c0011t0002 others(1): Show a0006c0006t0003 a0012c0011t0001 a0012c0011t0002 a0022c0024t0003	a0006c0006t0003g0118 a0012c0011t0001g0028 a0012c0011t0002g0031 others(1): Show a0006c0006t0003g0118 a0012c0011t0001g0028 a0012c0011t0002g0031 a0022c0024t0003g0058	4	176	0.0227	21	c.186 others(40): Show c.1862+7641_1862+7642insAAAAAAAAAAAAAAAAAAAAA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	15/29			chr3	TogoVar
MCF2L_chr13_112964214_113104742	113061844	C C	CTCCTCCT others(14): Show CTCCTCCTCCCCTCCCCTCTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0020 a0001c0005t0001g0020	1	116	0.0086	21	c.489 others(38): Show c.489+1136_489+1156dupTCCTCCCCTCCCCTCTTTTCC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCOLN2_chr1_84920583_85002113	84922462	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01433.hp1 HG01069.hp1 HG01071.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0007 a0001c0001t0004g0128 a0001c0001t0003g0007 a0001c0001t0004g0128	3	350	0.0086	21	c.42 others(32): Show c.4222_*4223insAAAAATATATATATATATATA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3120		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922462	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0223 a0001c0001t0018g0223	1	350	0.0029	21	c.42 others(32): Show c.4222_*4223insAAAAAAATATATATATATATA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3120		chr1	TogoVar
MCPH1_chr8_6401627_6653508	6409976	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0042 a0042	a0042c0061 a0042c0061	a0042c0061t0076 a0042c0061t0076	a0042c0061t0076g0039 a0042c0061t0076g0039	1	262	0.0038	21	c.114 others(36): Show c.114+618_114+619insTTTTTTTTTTTTTTTTTTTTT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCTP1_chr5_94698690_95290094	95205942	T T	TAAAATAG others(14): Show TAAAATAGTATATCCACTTTGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp1 HG03139.hp2 HG02559.hp2 HG02922.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0039 a0001c0001t0015 a0001c0001t0039	a0001c0001t0015g0028 a0001c0001t0015g0030 a0001c0001t0039g0029 a0001c0001t0015g0028 a0001c0001t0015g0030 a0001c0001t0039g0029	3	98	0.0306	21	c.720 others(40): Show c.720+77893_720+77913dupCCAAAGTGGATATACTATTTT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCTP2_chr15_94226561_94488952	94267869	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp2 HG01884.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0017t0013 a0001c0001t0001 a0001c0017t0013	a0001c0001t0001g0273 a0001c0017t0013g0023 a0001c0001t0001g0273 a0001c0017t0013g0023	2	276	0.0073	21	c.-65 others(40): Show c.-65-30318_-65-30317insTTTTTTTTTTTTTTTTTTTTT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94303064	A A	ATATATAT others(14): Show ATATATATATATATATATAGTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02717.hp2 HG03516.hp2 HG02055.hp2 HG02717.hp2 HG03516.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0011 a0006c0011t0011 a0006c0011t0014 a0001c0001t0011 a0006c0011t0011 a0006c0011t0014	a0001c0001t0011g0058 a0006c0011t0011g0274 a0006c0011t0014g0233 a0001c0001t0011g0058 a0006c0011t0011g0274 a0006c0011t0014g0233	3	276	0.0109	21	c.465 others(38): Show c.465+4344_465+4345insTATATATAGTTTATATATATA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94325812	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0021 a0001c0005t0021	a0001c0005t0021g0214 a0001c0005t0021g0214	1	276	0.0036	21	c.637 others(40): Show c.637+10181_637+10201dupTTTTTTTTTTTTTTTTTTTTT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94464257	T T	TATTATAT others(14): Show TATTATATATATATATATATTA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0020 a0003c0009t0020	a0003c0009t0020g0128 a0003c0009t0020g0128	1	276	0.0036	21	c.236 others(40): Show c.2360+6011_2360+6012insATTATATATATATATATATTA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	20/22			chr15	TogoVar
MCU_chr10_72687143_72892694	72714345	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03516.hp2 HG03579.hp1 others(1): Show HG02970.hp2 HG03516.hp2 HG03579.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0146 a0001c0001t0001g0152 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0200	4	210	0.0191	21	c.150 others(40): Show c.150+22047_150+22067dupTTTTTTTTTTTTTTTTTTTTT	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(14): Show CTTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	210	0.0048	21	c.150 others(40): Show c.150+59042_150+59043insCTTTTTTTTTTTTTTTTTTTT	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(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG02074.hp1 NA19012.hp1 HG01978.hp1 HG02074.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0016 a0001c0001t0021 a0001c0001t0009 a0001c0001t0016 a0001c0001t0021	a0001c0001t0009g0124 a0001c0001t0016g0015 a0001c0001t0021g0263 a0001c0001t0009g0124 a0001c0001t0016g0015 a0001c0001t0021g0263	3	334	0.0090	21	c.-34 others(32): Show c.-3465_-3464insTTTTTTTTTTTTTTTTTTTTT	MDFIC	ENSG00000135272.13	transcript	ENST00000393486.6	protein_coding		2814		chr7	TogoVar
MDFI_chr6_41633468_41659244	41643572	A A	AAGGAAGG others(14): Show AAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19240.hp1 HG03486.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0286 a0001c0001t0017g0284 a0001c0001t0001g0286 a0001c0001t0017g0284	2	462	0.0043	21	c.77- others(36): Show c.77-2554_77-2553insAGGAAGGAAGGAAGGAAGGAG	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding	2/4			chr6	TogoVar
MDGA2_chr14_46835092_47680605	46918760	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0073 a0002c0002t0005g0073	1	120	0.0083	21	c.223 others(40): Show c.2238+1251_2238+1252insAAAAAAAAAAAAAAAAAAAAA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	10/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	46938540	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02965.hp2 HG04115.hp1 others(1): Show HG02055.hp2 HG02965.hp2 HG04115.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0003c0004t0024	a0001c0001t0004g0001 a0001c0001t0006g0082 a0001c0001t0007g0004 others(1): Show a0001c0001t0004g0001 a0001c0001t0006g0082 a0001c0001t0007g0004 a0003c0004t0024g0032	4	120	0.0333	21	c.209 others(42): Show c.2090-18381_2090-18380insTTTTTTTTTTTTTTTTTTTTT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	9/16			chr14	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0287 a0001c0001t0013g0287	1	290	0.0035	21	c.139 others(40): Show c.13956+748_13956+749insAAAAAAAAAAAAATATATATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89734689	A A	AACGAGAG others(14): Show AACGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	290	0.0035	21	c.472 others(40): Show c.4724-1915_4724-1914insCTCTCTCTCTCTCTCTCTCGT	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	33/101			chr6	TogoVar
ME1_chr6_83205402_83436051	83268728	G G	GTTATTAT others(14): Show GTTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0214 a0002c0004t0005g0214	1	272	0.0037	21	c.705 others(40): Show c.705-15011_705-14991dupTAATAATAATAATAATAATAA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83277901	A A	AAATAATA others(14): Show AAATAATAATAATAACAATAAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0027 a0001c0005t0002g0027	1	272	0.0037	21	c.705 others(40): Show c.705-24164_705-24163insATTATTGTTATTATTATTATT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83277901	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00438.hp2 others(16): Show HG00140.hp2 HG00408.hp2 HG00438.hp2 HG00621.hp1 HG01099.hp2 HG01175.hp2 HG01255.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01993.hp2 HG02280.hp1 HG02735.hp1 HG03669.hp1 HG03834.hp2 NA18957.hp1 NA18972.hp1 NA19063.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0006 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0004 a0001c0002t0011 a0001c0003t0004 a0001c0010t0005	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 others(16): Show a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0006g0237 a0001c0002t0004g0146 a0001c0002t0011g0216 a0001c0002t0011g0217 a0001c0003t0004g0012 a0001c0010t0005g0219	19	272	0.0699	21	c.705 others(40): Show c.705-24184_705-24164dupATTATTATTATTATTATTATT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83283227	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01346.hp1 HG03041.hp2 others(2): Show HG01081.hp1 HG01346.hp1 HG03041.hp2 NA18959.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 others(2): Show a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0003g0242 a0001c0002t0001g0032	5	272	0.0184	21	c.705 others(40): Show c.705-29510_705-29490dupTTTTTTTTTTTTTTTTTTTTT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83376804	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01255.hp1 HG01515.hp2 others(8): Show HG01123.hp2 HG01255.hp1 HG01515.hp2 HG01891.hp1 HG02004.hp2 NA18981.hp1 NA18986.hp2 NA18993.hp1 NA19000.hp1 NA19068.hp2 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0007c0009t0001	a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0002g0013 others(8): Show a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0002g0013 a0001c0001t0002g0067 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0254 a0001c0001t0003g0268 a0007c0009t0001g0088	11	272	0.0404	21	c.362 others(40): Show c.362+21562_362+21563insTTTTTTTTTTTTTTTTTTTTT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME3_chr11_86436108_86677616	86471141	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18906.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0177 a0001c0001t0002g0272 a0001c0001t0001g0177 a0001c0001t0002g0272	2	320	0.0063	21	c.810 others(38): Show c.810-5962_810-5942dupAAAAAAAAAAAAAAAAAAAAA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	7/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86501175	T T	TATAATAA others(14): Show TATAATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00735.hp1 others(31): Show HG00140.hp1 HG00639.hp2 HG00735.hp1 HG01109.hp1 HG01167.hp1 HG01346.hp2 HG01361.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02155.hp2 HG02523.hp1 HG02717.hp2 HG02735.hp1 HG02897.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03710.hp1 NA18747.hp2 NA18940.hp2 NA18946.hp1 NA18962.hp1 NA18970.hp2 NA18972.hp1 NA19000.hp1 NA19005.hp1 NA19010.hp1 NA19058.hp2 NA19072.hp2 NA19240.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(4): Show a0001c0001 a0001c0002 a0001c0009 a0001c0012 a0001c0019 a0001c0021 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0009t0001 a0001c0012t0001 a0001c0019t0002 a0001c0021t0001 a0002c0005t0002	a0001c0001t0001g0004 a0001c0001t0001g0043 a0001c0001t0001g0117 others(31): Show a0001c0001t0001g0004 a0001c0001t0001g0043 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0184 a0001c0002t0001g0002 a0001c0002t0001g0012 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0030 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0041 a0001c0002t0001g0060 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0231 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0287 a0001c0002t0002g0290 a0001c0002t0002g0296 a0001c0002t0002g0317 a0001c0009t0001g0199 a0001c0012t0001g0068 a0001c0012t0001g0071 a0001c0012t0001g0072 a0001c0019t0002g0293 a0001c0021t0001g0026 a0002c0005t0002g0270	34	320	0.1063	21	c.544 others(38): Show c.544-3072_544-3052dupTATTATTATTATTATTATTAT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	5/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86560773	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0295	1	320	0.0031	21	c.184 others(36): Show c.184-951_184-950insTATATATATATATATATATAT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
MECOM_chr3_169078507_169668712	169097817	T T	TATAAAAA others(14): Show TATAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0003 a0002c0002t0024g0003	1	160	0.0063	21	c.285 others(40): Show c.2850-2573_2850-2572insTTTTTTTTTTTTTTTTTTTAT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	12/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169261745	A A	AGGAGAAG others(14): Show AGGAGAAGGAGAAGGAGAAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0047 a0002c0002t0047	a0002c0002t0047g0153 a0002c0002t0047g0153	1	160	0.0063	21	c.376 others(42): Show c.376-117914_376-117913insCTTTTCTCCTTCTCCTTCTCC	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169441728	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0106 a0001c0001t0017g0106	1	160	0.0063	21	c.38- others(38): Show c.38-60205_38-60204insAAAAAAAAAAAAAAAAAAAAA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169594174	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0097 a0001c0003t0005g0097	1	160	0.0063	21	c.37+ others(38): Show c.37+69161_37+69162insGTTTTTTTTTTTTTTTTTTTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169594174	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAACC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0135 a0001c0001t0007g0135	1	160	0.0063	21	c.37+ others(38): Show c.37+69161_37+69162insGGTTTTTTTTTTTTTTTTTTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169594178	A A	AAAAAAAA others(14): Show AAAAAAAACCAAAAAACACCTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02080.hp1 HG03130.hp2 others(1): Show HG00738.hp2 HG02080.hp1 HG03130.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0010 a0001c0001t0021 others(1): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0021 a0001c0003t0001	a0001c0001t0006g0125 a0001c0001t0010g0085 a0001c0001t0021g0150 others(1): Show a0001c0001t0006g0125 a0001c0001t0010g0085 a0001c0001t0021g0150 a0001c0003t0001g0051	4	160	0.0250	21	c.37+ others(38): Show c.37+69157_37+69158insAAGGTGTTTTTTGGTTTTTTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169659440	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0054 a0001c0004t0054	a0001c0004t0054g0160 a0001c0004t0054g0160	1	160	0.0063	21	c.37+ others(36): Show c.37+3875_37+3895dupAAAAAAAAAAAAAAAAAAAAA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar

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