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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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
MECOM_chr3_169078507_169668712	169378466	CAAGCAAG others(25): Show CAAGCAAGCAAGAAAGAGAGAGAGAAAGAAAGA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0086 a0002c0002t0002g0086	1	160	0.0063	-32	c.375 others(49): Show c.375+2689_375+2720delTCTTTCTTTCTCTCTCTCTTTCTTGCTT GCTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169477095	GTGTGTGT others(25): Show GTGTGTGTGTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0041 a0002c0002t0003g0041	1	160	0.0063	-32	c.38- others(49): Show c.38-95603_38-95572delTATATATATATATATATATATACACACA CACA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169477097	GTGTGTGT others(25): Show GTGTGTGTGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0141 a0001c0001t0009g0141	1	160	0.0063	-32	c.38- others(49): Show c.38-95605_38-95574delTATATATATATATATATATATATACACA CACA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECP2_chrX_154016573_154102717	154037157	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0086 a0001c0001t0050g0086	1	230	0.0044	-32	c.27- others(47): Show c.27-4632_27-4601delGTGTATATATATATATATATATATATATAT AT	MECP2	ENSG00000169057.25	transcript	ENST00000303391.11	protein_coding	2/3			chrX	TogoVar
MEF2C_chr5_88712117_88888184	88885054	GACAATAG others(25): Show GACAATAGTATATTGAAATATCTAGCTAACTAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	302	0.0033	-32	c.-22 others(43): Show c.-2274_-2243delTTAGTTAGCTAGATATTTCAATATACTATTGT	MEF2C	ENSG00000081189.17	transcript	ENST00000504921.7	protein_coding		1871		chr5	TogoVar
MEGF10_chr5_127285796_127466222	127391094	GCGCGCGC others(25): Show GCGCGCGCGCACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18940.hp1 NA18959.hp1 others(1): Show HG00621.hp1 NA18940.hp1 NA18959.hp1 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0068 a0001c0002t0002g0070 others(1): Show a0001c0002t0002g0056 a0001c0002t0002g0068 a0001c0002t0002g0070 a0001c0002t0002g0092	4	268	0.0149	-32	c.413 others(49): Show c.413-5436_413-5405delGCGCGCGCACACACACACACACACACAC ACAC	MEGF10	ENSG00000145794.17	transcript	ENST00000503335.7	protein_coding	5/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
MEGF11_chr15_65890299_66258750	66150823	CGAGAGAG others(25): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0007 a0005c0006t0003g0007	1	176	0.0057	-32	c.-8- others(49): Show c.-8-22444_-8-22413delTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	1/25			chr15	TogoVar
MEGF6_chr1_3482951_3616508	3568346	AATGGGGG others(25): Show AATGGGGGCTTCGGTAGTGGTCCTAGGTCCCAC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02280.hp2 HG01123.hp1 HG02280.hp2	a0024 a0040 a0024 a0040	a0024c0030 a0040c0068 a0024c0030 a0040c0068	a0024c0030t0030 a0040c0068t0032 a0024c0030t0030 a0040c0068t0032	a0024c0030t0030g0269 a0040c0068t0032g0274 a0024c0030t0030g0269 a0040c0068t0032g0274	2	292	0.0069	-32	c.481 others(51): Show c.481+11447_481+11478delGTGGGACCTAGGACCACTACCGAAGC CCCCAT	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3568358	GGTAGTGG others(25): Show GGTAGTGGTCCTAGGTCCCACATGGGGGCTTCA	G G	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18980.hp2 NA19000.hp2 others(1): Show NA18970.hp2 NA18980.hp2 NA19000.hp2 NA19088.hp2	a0001 a0011 a0026 others(1): Show a0001 a0011 a0026 a0030	a0001c0001 a0011c0011 a0026c0101 others(1): Show a0001c0001 a0011c0011 a0026c0101 a0030c0043	a0001c0001t0001 a0011c0011t0064 a0026c0101t0003 others(1): Show a0001c0001t0001 a0011c0011t0064 a0026c0101t0003 a0030c0043t0003	a0001c0001t0001g0223 a0011c0011t0064g0292 a0026c0101t0003g0221 others(1): Show a0001c0001t0001g0223 a0011c0011t0064g0292 a0026c0101t0003g0221 a0030c0043t0003g0069	4	292	0.0137	-32	c.481 others(51): Show c.481+11435_481+11466delTGAAGCCCCCATGTGGGACCTAGGAC CACTAC	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36			chr1	TogoVar
MEIKIN_chr5_131801990_131950663	131885341	AAGAGAGA others(25): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0292 a0001c0002t0001g0292	1	346	0.0029	-32	c.704 others(49): Show c.704-6325_704-6294delCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	MEIKIN	ENSG00000239642.6	transcript	ENST00000442687.6	protein_coding	8/12			chr5	TogoVar
MEP1A_chr6_46788389_46844778	46797899	CTTCCTTC others(25): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18984.hp2 HG02698.hp1 NA18984.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0254 a0003c0003t0003g0094 a0001c0001t0001g0254 a0003c0003t0003g0094	2	352	0.0057	-32	c.146 others(47): Show c.146-676_146-645delCTTTCCTTCCTTCCTTCCTTCCTTCCTTCC TT	MEP1A	ENSG00000112818.11	transcript	ENST00000230588.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
MEP1A_chr6_46788389_46844778	46807561	AAAGAAAG others(25): Show AAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0113 a0003c0003t0003g0113	1	352	0.0028	-32	c.263 others(49): Show c.263-1855_263-1824delAAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAG	MEP1A	ENSG00000112818.11	transcript	ENST00000230588.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
MEP1A_chr6_46788389_46844778	46807592	GGAAGGAA others(25): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01071.hp2 others(6): Show HG00741.hp2 HG01069.hp1 HG01071.hp2 HG02056.hp2 HG02559.hp2 HG02896.hp1 HG02897.hp2 HG03540.hp1 NA18946.hp2	a0004 a0005 a0006 a0004 a0005 a0006	a0004c0004 a0004c0023 a0005c0006 others(1): Show a0004c0004 a0004c0023 a0005c0006 a0006c0005	a0004c0004t0002 a0004c0004t0003 a0004c0023t0002 others(2): Show a0004c0004t0002 a0004c0004t0003 a0004c0023t0002 a0005c0006t0003 a0006c0005t0003	a0004c0004t0002g0146 a0004c0004t0002g0148 a0004c0004t0002g0149 others(6): Show a0004c0004t0002g0146 a0004c0004t0002g0148 a0004c0004t0002g0149 a0004c0004t0003g0005 a0004c0023t0002g0141 a0005c0006t0003g0059 a0005c0006t0003g0060 a0006c0005t0003g0023 a0006c0005t0003g0024	9	352	0.0256	-32	c.263 others(49): Show c.263-1816_263-1785delGGAAGGAAGGAAGGAAGGAAAGAAGGAA GGAA	MEP1A	ENSG00000112818.11	transcript	ENST00000230588.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
MEP1B_chr18_32185039_32225404	32222260	GTTGCCTT others(25): Show GTTGCCTTTATAGAGCCACATCCATTTCCCTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00735.hp1 others(33): Show HG00099.hp2 HG00140.hp1 HG00735.hp1 HG00738.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01192.hp1 HG01261.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG02258.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG04184.hp1 HG04199.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0006 others(1): Show a0002 a0003 a0006 a0008	a0002c0002 a0003c0004 a0003c0007 others(2): Show a0002c0002 a0003c0004 a0003c0007 a0006c0012 a0008c0013	a0002c0002t0001 a0003c0004t0001 a0003c0007t0001 others(2): Show a0002c0002t0001 a0003c0004t0001 a0003c0007t0001 a0006c0012t0001 a0008c0013t0001	a0002c0002t0001g0261 a0003c0004t0001g0090 a0003c0004t0001g0091 others(32): Show a0002c0002t0001g0261 a0003c0004t0001g0090 a0003c0004t0001g0091 a0003c0004t0001g0092 a0003c0004t0001g0093 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0004t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0098 a0003c0004t0001g0099 a0003c0004t0001g0101 a0003c0004t0001g0102 a0003c0004t0001g0103 a0003c0004t0001g0104 a0003c0004t0001g0125 a0003c0004t0001g0130 a0003c0004t0001g0131 a0003c0004t0001g0139 a0003c0004t0001g0195 a0003c0004t0001g0231 a0003c0007t0001g0132 a0003c0007t0001g0134 a0003c0007t0001g0137 a0003c0007t0001g0224 a0003c0007t0001g0225 a0003c0007t0001g0226 a0003c0007t0001g0227 a0003c0007t0001g0228 a0003c0007t0001g0229 a0003c0007t0001g0244 a0006c0012t0001g0028 a0006c0012t0001g0100 a0008c0013t0001g0049 a0008c0013t0001g0050	36	350	0.1029	-32	c.20 others(43): Show c.2016_*2047delTTGCCTTTATAGAGCCACATCCATTTCCCTTT	MEP1B	ENSG00000141434.12	transcript	ENST00000269202.11	protein_coding		1857		chr18	TogoVar
MERTK_chr2_111893607_112034561	111970769	TCCCTCCT others(25): Show TCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00741.hp2 others(51): Show HG00099.hp2 HG00140.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01255.hp2 HG01261.hp2 HG01516.hp1 HG01517.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp1 HG02155.hp2 HG02523.hp1 HG02572.hp1 HG02698.hp2 HG02735.hp1 HG02818.hp1 HG02970.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 NA18941.hp2 NA18947.hp1 NA18951.hp1 NA18954.hp1 NA18957.hp2 NA18963.hp2 NA18984.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp2 NA19004.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19063.hp1 NA19079.hp1 NA19081.hp1 NA20752.hp2 NA20805.hp2	a0002 a0003 a0006 others(2): Show a0002 a0003 a0006 a0010 a0013	a0002c0012 a0003c0003 a0006c0007 others(2): Show a0002c0012 a0003c0003 a0006c0007 a0010c0024 a0013c0019	a0002c0012t0001 a0003c0003t0001 a0003c0003t0009 others(3): Show a0002c0012t0001 a0003c0003t0001 a0003c0003t0009 a0006c0007t0003 a0010c0024t0001 a0013c0019t0001	a0002c0012t0001g0040 a0002c0012t0001g0060 a0003c0003t0001g0014 others(51): Show a0002c0012t0001g0040 a0002c0012t0001g0060 a0003c0003t0001g0014 a0003c0003t0001g0016 a0003c0003t0001g0017 a0003c0003t0001g0018 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0025 a0003c0003t0001g0026 a0003c0003t0001g0027 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0030 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0033 a0003c0003t0001g0034 a0003c0003t0001g0035 a0003c0003t0001g0036 a0003c0003t0001g0037 a0003c0003t0001g0038 a0003c0003t0001g0039 a0003c0003t0001g0041 a0003c0003t0001g0042 a0003c0003t0001g0043 a0003c0003t0001g0044 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0050 a0003c0003t0001g0051 a0003c0003t0001g0052 a0003c0003t0001g0054 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0058 a0003c0003t0001g0059 a0003c0003t0001g0232 a0003c0003t0009g0053 a0006c0007t0003g0061 a0006c0007t0003g0062 a0006c0007t0003g0063 a0006c0007t0003g0064 a0006c0007t0003g0065 a0010c0024t0001g0158 a0013c0019t0001g0015	54	288	0.1875	-32	c.960 others(49): Show c.960+2546_960+2577delTCCCCCCTCCTCCTCCTCCTCCCTCCTC CTCC	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
MESP2_chr15_89771332_89783754	89775241	TCACTGCA others(25): Show TCACTGCAACCTCCGCCTCCCGGGTTCAAGCGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	394	0.0025	-32	c.-11 others(43): Show c.-1116_-1085delCACTGCAACCTCCGCCTCCCGGGTTCAAGCGA	MESP2	ENSG00000188095.6	transcript	ENST00000341735.5	protein_coding		1090		chr15	TogoVar
METAP1_chr4_98990721_99067809	99047635	ATGGGAAA others(25): Show ATGGGAAAGATACATTGTATCTGAACCTCAGTC	A A	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	338	0.0030	-32	c.788 others(49): Show c.788-1091_788-1060delAGATACATTGTATCTGAACCTCAGTCTG GGAA	METAP1	ENSG00000164024.12	transcript	ENST00000296411.11	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
METAP2_chr12_95469152_95520839	95514826	ATTCTTGG others(25): Show ATTCTTGGACTTTTTCATTCATGAGGCAAATGC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0342 a0001c0001t0013g0342	1	382	0.0026	-32	c.92 others(41): Show c.924_*955delTCTTGGACTTTTTCATTCATGAGGCAAATGCT	METAP2	ENSG00000111142.14	transcript	ENST00000323666.10	protein_coding	11/11	924	INFO_REALIGN_3_PRIME	chr12	TogoVar
METRNL_chr17_83074609_83100122	83090143	CGCCCCGC others(25): Show CGCCCCGCCCCAGGGTGGGAGCCACACACCCCT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 NA20300.hp1 HG01069.hp1 HG01071.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0006 a0001c0002t0002g0185 a0001c0001t0002g0006 a0001c0002t0002g0185	3	399	0.0075	-32	c.557 others(49): Show c.557-2992_557-2961delTGCCCCGCCCCAGGGTGGGAGCCACACA CCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METTL24_chr6_110238940_110363349	110302540	TACACACA others(25): Show TACACACACATATGTGTATATATACACACATAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0083 a0001c0002t0002g0083	1	268	0.0037	-32	c.558 others(49): Show c.558-3422_558-3391delGTATGTGTGTATATATACACATATGTGT GTGT	METTL24	ENSG00000053328.9	transcript	ENST00000338882.5	protein_coding	3/4			chr6	TogoVar
METTL24_chr6_110238940_110363349	110302566	CACATACA others(25): Show CACATACACACACATATGTGTATATATACACAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00597.hp2 others(12): Show HG00438.hp2 HG00544.hp1 HG00597.hp2 HG02129.hp2 HG02523.hp2 NA18747.hp2 NA18966.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18991.hp1 NA19005.hp2 NA19066.hp2 NA19086.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0015 others(1): Show a0001c0001 a0001c0002 a0001c0015 a0001c0018	a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0001c0015t0002 a0001c0018t0002	a0001c0001t0002g0144 a0001c0001t0002g0158 a0001c0001t0002g0217 others(12): Show a0001c0001t0002g0144 a0001c0001t0002g0158 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0236 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0002t0002g0032 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0096 a0001c0002t0002g0101 a0001c0002t0003g0044 a0001c0015t0002g0134 a0001c0018t0002g0223	15	268	0.0560	-32	c.558 others(49): Show c.558-3448_558-3417delATGTGTATATATACACATATGTGTGTGT ATGT	METTL24	ENSG00000053328.9	transcript	ENST00000338882.5	protein_coding	3/4			chr6	TogoVar
METTL6_chr3_15404760_15432544	15406605	TATATATA others(25): Show TATATATATATATATATATATATATAGAGAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18999.hp1 NA18972.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0041 a0001c0001t0012g0042 a0001c0001t0012g0041 a0001c0001t0012g0042	2	406	0.0049	-32	c.46 others(43): Show c.4619_*4650delCTCTCTCTATATATATATATATATATATATAT	METTL6	ENSG00000206562.12	transcript	ENST00000383790.8	protein_coding		3154		chr3	TogoVar
METTL6_chr3_15404760_15432544	15406607	TATATATA others(25): Show TATATATATATATATATATATATAGAGAGAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0037 a0001c0001t0014g0037	1	406	0.0025	-32	c.46 others(43): Show c.4617_*4648delCTCTCTCTCTATATATATATATATATATATAT	METTL6	ENSG00000206562.12	transcript	ENST00000383790.8	protein_coding		3152		chr3	TogoVar
MET_chr7_116667196_116803377	116716467	GAGAAAGA others(25): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0256 a0001c0004t0018g0256	1	340	0.0029	-32	c.120 others(53): Show c.1201-15160_1201-15129delAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAA	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MEX3B_chr15_82036778_82051018	82047505	CGGCTGGG others(25): Show CGGCTGGGCCCGCGGTTCATAGAGTCGCCCAAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	450	0.0022	-32	c.-18 others(43): Show c.-1832_-1801delCTTGGGCGACTCTATGAACCGCGGGCCCAGCC	MEX3B	ENSG00000183496.6	transcript	ENST00000329713.5	protein_coding		1488		chr15	TogoVar
MFGE8_chr15_88893683_88918379	88915792	ATATATAT others(25): Show ATATATATATATATGTATATATATATATATGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 NA19240.hp2 HG01243.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0046 a0001c0003t0004g0046	2	436	0.0046	-32	c.-25 others(43): Show c.-2505_-2474delCACATATATATATATATACATATATATATATA	MFGE8	ENSG00000140545.16	transcript	ENST00000268150.13	protein_coding		2414		chr15	TogoVar
MFRP_chr11_119333942_119351705	119346677	TTGGCCTA others(25): Show TTGGCCTATGGGCTACTCTGTCTCTGTGTGGGG	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0050 a0002c0002t0011g0050	1	318	0.0031	-32	c.-19 others(41): Show c.-196_-165delCCCCACACAGAGACAGAGTAGCCCATAGGCCA	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding	1/15	165		chr11	TogoVar
MFSD14B_chr9_94369569_94466042	94452715	ATATATAT others(25): Show ATATATATATAATAGATATTATATATAAATATC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00642.hp2 others(17): Show HG00099.hp2 HG00280.hp2 HG00642.hp2 HG00733.hp2 HG01074.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01975.hp1 HG02055.hp1 HG02300.hp1 HG03017.hp1 HG03490.hp2 HG03491.hp1 HG03704.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0003 a0001c0001t0001g0081 a0001c0001t0001g0082 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0019g0083	20	350	0.0571	-32	c.915 others(49): Show c.915+1192_916-1208delATATATAATAGATATTATATATAAATAT CTAT	MFSD14B	ENSG00000148110.17	transcript	ENST00000375344.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
MFSD1_chr3_158797054_158834716	158827898	CAGAGAGA others(25): Show CAGAGAGAGAGAGAGGGGGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00609.hp2 others(63): Show HG00280.hp1 HG00423.hp2 HG00609.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01978.hp1 HG01993.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02135.hp2 HG02165.hp2 HG02257.hp2 HG02300.hp2 HG02559.hp2 HG03139.hp2 HG03239.hp1 HG03516.hp1 HG03942.hp2 HG04115.hp1 NA18612.hp2 NA18941.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18962.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18974.hp2 NA18979.hp2 NA18984.hp2 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19054.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19064.hp1 NA19065.hp1 NA19067.hp1 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19084.hp2 NA19088.hp1 NA19090.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0006 others(1): Show a0002 a0003 a0006 a0008	a0002c0002 a0003c0003 a0006c0011 others(1): Show a0002c0002 a0003c0003 a0006c0011 a0008c0009	a0002c0002t0001 a0002c0002t0002 a0003c0003t0002 others(2): Show a0002c0002t0001 a0002c0002t0002 a0003c0003t0002 a0006c0011t0013 a0008c0009t0003	a0002c0002t0001g0016 a0002c0002t0001g0047 a0002c0002t0001g0260 others(27): Show a0002c0002t0001g0016 a0002c0002t0001g0047 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0268 a0002c0002t0002g0143 a0003c0003t0002g0001 a0003c0003t0002g0003 a0003c0003t0002g0012 a0003c0003t0002g0033 a0003c0003t0002g0034 a0003c0003t0002g0036 a0003c0003t0002g0183 a0003c0003t0002g0184 a0003c0003t0002g0185 a0003c0003t0002g0186 a0003c0003t0002g0187 a0003c0003t0002g0188 a0003c0003t0002g0190 a0003c0003t0002g0191 a0003c0003t0002g0194 a0003c0003t0002g0197 a0003c0003t0002g0198 a0003c0003t0002g0199 a0003c0003t0002g0201 a0003c0003t0002g0202 a0003c0003t0002g0203 a0006c0011t0013g0003 a0008c0009t0003g0257	66	402	0.1642	-32	c.139 others(49): Show c.1394+574_1394+605delAGGGGGAGAGAGAGAGAGAGAGAGAGAG AGAG	MFSD1	ENSG00000118855.21	transcript	ENST00000415822.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
MFSD1_chr3_158797054_158834716	158827915	GGAGAGAG others(25): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0263 a0002c0004t0001g0263	1	402	0.0025	-32	c.139 others(49): Show c.1394+606_1394+637delGGGGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	MFSD1	ENSG00000118855.21	transcript	ENST00000415822.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
MGAM_chr7_141990879_142111747	142067956	ATATATAT others(25): Show ATATATATAAATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18942.hp1 NA18961.hp2 others(4): Show HG00621.hp1 NA18942.hp1 NA18961.hp2 NA18964.hp1 NA18980.hp1 NA19076.hp1 NA19087.hp1	a0001 a0002 a0069 a0001 a0002 a0069	a0001c0082 a0002c0002 a0002c0009 others(2): Show a0001c0082 a0002c0002 a0002c0009 a0002c0079 a0069c0046	a0001c0082t0001 a0002c0002t0001 a0002c0009t0001 others(2): Show a0001c0082t0001 a0002c0002t0001 a0002c0009t0001 a0002c0079t0001 a0069c0046t0001	a0001c0082t0001g0236 a0002c0002t0001g0151 a0002c0002t0001g0222 others(4): Show a0001c0082t0001g0236 a0002c0002t0001g0151 a0002c0002t0001g0222 a0002c0002t0001g0260 a0002c0009t0001g0218 a0002c0079t0001g0068 a0069c0046t0001g0152	7	316	0.0222	-32	c.500 others(49): Show c.5004+533_5004+564delATATATAAATATATATATATATATATAT ATTT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	42/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142067958	ATATATAA others(25): Show ATATATAAATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp2 HG01123.hp1 others(51): Show HG00099.hp1 HG01099.hp2 HG01123.hp1 HG01175.hp2 HG01258.hp2 HG01261.hp1 HG01515.hp2 HG01517.hp2 HG01943.hp1 HG01978.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02280.hp2 HG02572.hp1 HG02602.hp1 HG03017.hp2 HG03239.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp1 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18955.hp2 NA18961.hp1 NA18962.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18977.hp2 NA18980.hp2 NA19001.hp1 NA19011.hp2 NA19057.hp1 NA19060.hp2 NA19074.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0008 a0028 a0032 a0043 a0047 a0054	a0001c0001 a0001c0015 a0001c0030 others(22): Show a0001c0001 a0001c0015 a0001c0030 a0001c0031 a0001c0032 a0001c0117 a0002c0002 a0002c0009 a0002c0013 a0002c0016 a0002c0019 a0002c0033 a0002c0067 a0002c0099 a0002c0105 a0002c0106 a0002c0110 a0004c0018 a0008c0022 a0008c0139 a0028c0146 a0032c0119 a0043c0057 a0047c0088 a0054c0084	a0001c0001t0001 a0001c0015t0001 a0001c0030t0001 others(22): Show a0001c0001t0001 a0001c0015t0001 a0001c0030t0001 a0001c0031t0001 a0001c0032t0001 a0001c0117t0001 a0002c0002t0001 a0002c0009t0001 a0002c0013t0001 a0002c0016t0001 a0002c0019t0001 a0002c0033t0001 a0002c0067t0001 a0002c0099t0001 a0002c0105t0001 a0002c0106t0001 a0002c0110t0001 a0004c0018t0001 a0008c0022t0001 a0008c0139t0001 a0028c0146t0001 a0032c0119t0001 a0043c0057t0001 a0047c0088t0001 a0054c0084t0001	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0075 others(51): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0075 a0001c0015t0001g0215 a0001c0030t0001g0261 a0001c0030t0001g0262 a0001c0031t0001g0038 a0001c0031t0001g0207 a0001c0032t0001g0257 a0001c0032t0001g0259 a0001c0117t0001g0254 a0002c0002t0001g0011 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0037 a0002c0002t0001g0067 a0002c0002t0001g0133 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0146 a0002c0002t0001g0159 a0002c0002t0001g0167 a0002c0002t0001g0190 a0002c0002t0001g0204 a0002c0002t0001g0221 a0002c0002t0001g0223 a0002c0002t0001g0284 a0002c0009t0001g0135 a0002c0009t0001g0162 a0002c0009t0001g0189 a0002c0013t0001g0093 a0002c0016t0001g0012 a0002c0016t0001g0122 a0002c0016t0001g0251 a0002c0019t0001g0143 a0002c0019t0001g0270 a0002c0019t0001g0315 a0002c0033t0001g0286 a0002c0033t0001g0287 a0002c0067t0001g0030 a0002c0099t0001g0294 a0002c0105t0001g0187 a0002c0106t0001g0014 a0002c0110t0001g0160 a0004c0018t0001g0166 a0008c0022t0001g0020 a0008c0022t0001g0053 a0008c0139t0001g0070 a0028c0146t0001g0044 a0032c0119t0001g0006 a0043c0057t0001g0036 a0047c0088t0001g0145 a0054c0084t0001g0246	54	316	0.1709	-32	c.500 others(49): Show c.5004+535_5004+566delATATAAATATATATATATATATATATAT TTTT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	42/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142067960	ATATAAAT others(25): Show ATATAAATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG02683.hp1 others(5): Show HG00099.hp2 HG00280.hp1 HG02683.hp1 HG03239.hp1 HG03492.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp2	a0001 a0002 a0041 others(1): Show a0001 a0002 a0041 a0057	a0001c0080 a0002c0002 a0002c0009 others(3): Show a0001c0080 a0002c0002 a0002c0009 a0002c0013 a0041c0077 a0057c0052	a0001c0080t0001 a0002c0002t0001 a0002c0009t0001 others(3): Show a0001c0080t0001 a0002c0002t0001 a0002c0009t0001 a0002c0013t0001 a0041c0077t0001 a0057c0052t0001	a0001c0080t0001g0234 a0002c0002t0001g0024 a0002c0002t0001g0174 others(5): Show a0001c0080t0001g0234 a0002c0002t0001g0024 a0002c0002t0001g0174 a0002c0009t0001g0013 a0002c0013t0001g0103 a0002c0013t0001g0118 a0041c0077t0001g0184 a0057c0052t0001g0235	8	316	0.0253	-32	c.500 others(49): Show c.5004+537_5004+568delATAAATATATATATATATATATATATTT TTTT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	42/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142067962	ATAAATAT others(25): Show ATAAATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0053 a0053	a0053c0097 a0053c0097	a0053c0097t0001 a0053c0097t0001	a0053c0097t0001g0077 a0053c0097t0001g0077	1	316	0.0032	-32	c.500 others(49): Show c.5004+539_5004+570delAAATATATATATATATATATATATTTTT TTTT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	42/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142088743	GTCTGTCT others(25): Show GTCTGTCTATCTATCTATCTATCTATCTATCTA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02132.hp2 HG03490.hp1 others(5): Show HG02027.hp2 HG02132.hp2 HG03490.hp1 HG03688.hp2 HG04115.hp2 NA18953.hp2 NA18961.hp2 NA18971.hp1	a0001 a0021 a0057 a0001 a0021 a0057	a0001c0030 a0001c0031 a0001c0032 others(3): Show a0001c0030 a0001c0031 a0001c0032 a0001c0082 a0021c0075 a0057c0052	a0001c0030t0001 a0001c0031t0001 a0001c0032t0001 others(3): Show a0001c0030t0001 a0001c0031t0001 a0001c0032t0001 a0001c0082t0001 a0021c0075t0001 a0057c0052t0001	a0001c0030t0001g0261 a0001c0030t0001g0262 a0001c0031t0001g0038 others(5): Show a0001c0030t0001g0261 a0001c0030t0001g0262 a0001c0031t0001g0038 a0001c0031t0001g0207 a0001c0032t0001g0257 a0001c0082t0001g0236 a0021c0075t0001g0295 a0057c0052t0001g0235	8	316	0.0253	-32	c.681 others(51): Show c.6810+2030_6810+2061delGTCTATCTATCTATCTATCTATCTAT CTATCT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	57/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAT4C_chr12_85950667_86261391	86258284	AATCTATC others(25): Show AATCTATCTATCTATCTATCTATCTATCTATCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0125 a0001c0001t0125	a0001c0001t0125g0019 a0001c0001t0125g0019	1	186	0.0054	-32	c.-21 others(43): Show c.-2134_-2103delAGATAGATAGATAGATAGATAGATAGATAGAT	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding		1894		chr12	TogoVar
MGAT4D_chr4_140437262_140503293	140471227	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02109.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0068 a0002c0002t0004g0071 a0002c0002t0004g0068 a0002c0002t0004g0071	2	332	0.0060	-32	c.572 others(47): Show c.572+516_572+547delGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AA	MGAT4D	ENSG00000205301.12	transcript	ENST00000511113.6	protein_coding	5/10			chr4	TogoVar
MGAT5B_chr17_76863404_76955393	76897699	TTCTTTCT others(25): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01993.hp2 HG00544.hp2 HG01993.hp2	a0002 a0002	a0002c0002 a0002c0043 a0002c0002 a0002c0043	a0002c0002t0005 a0002c0043t0001 a0002c0002t0005 a0002c0043t0001	a0002c0002t0005g0038 a0002c0043t0001g0159 a0002c0002t0005g0038 a0002c0043t0001g0159	2	278	0.0072	-32	c.330 others(49): Show c.330-4854_330-4823delCTTTCTTTCTTTCTTTCTTTCTTTCTTT TTCT	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5_chr2_134249072_134459621	134445419	AAGGGAGG others(25): Show AAGGGAGGGAAGGCACTCAAGGGAAGGGGCAGG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0105 a0001c0002t0105	a0001c0002t0105g0001 a0001c0002t0105g0001	1	282	0.0036	-32	c.202 others(51): Show c.2028-3221_2028-3190delAAGGCACTCAAGGGAAGGGGCAGGAG GGAGGG	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MIB1_chr18_21735792_21875953	21738806	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG03041.hp2 NA19079.hp2 HG02818.hp1 HG03041.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0008 a0002c0003t0022 a0001c0001t0001 a0001c0001t0008 a0002c0003t0022	a0001c0001t0001g0185 a0001c0001t0008g0112 a0002c0003t0022g0103 a0001c0001t0001g0185 a0001c0001t0008g0112 a0002c0003t0022g0103	3	308	0.0097	-32	c.-27 others(43): Show c.-2777_-2746delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	MIB1	ENSG00000101752.13	transcript	ENST00000261537.7	protein_coding		1985		chr18	TogoVar
MICALL2_chr7_1429359_1464470	1442615	CCCAGGCC others(25): Show CCCAGGCCACCCTCCACCTCCCCCACCATTGCG	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0209 a0001c0001t0001g0215	2	280	0.0071	-32	c.141 others(49): Show c.1419-163_1419-132delCGCAATGGTGGGGGAGGTGGAGGGTGGC CTGG	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	6/16			chr7	TogoVar
MICU1_chr10_72362340_72631079	72500280	ATATATAT others(25): Show ATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	208	0.0048	-32	c.652 others(49): Show c.652+7843_652+7874delAAAAAAAAAATATATATATATATATATA TATA	MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding	6/11			chr10	TogoVar
MIER3_chr5_56914603_56957123	56951702	GGGGGCTC others(25): Show GGGGGCTCCGCCGGTTTCCACCCACCCGGGCCC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG01069.hp2 others(7): Show HG00280.hp2 HG00738.hp2 HG01069.hp2 HG01256.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG04115.hp2 NA18612.hp2 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0010t0001 a0001c0002t0001 a0001c0010t0001	a0001c0002t0001g0025 a0001c0002t0001g0048 a0001c0002t0001g0049 others(6): Show a0001c0002t0001g0025 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0010t0001g0052	10	394	0.0254	-32	c.9+3 others(43): Show c.9+360_9+391delGGGCCCGGGTGGGTGGAAACCGGCGGAGCCCC	MIER3	ENSG00000155545.20	transcript	ENST00000381199.8	protein_coding	1/12			chr5	TogoVar
MINAR1_chr15_79427336_79477304	79439075	TTGATGGG others(25): Show TTGATGGGGTGGGTAGTGTGTCGGGTATGGGTG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp2 HG02717.hp1 HG02818.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0015 a0001c0007t0008 a0001c0007t0015	a0001c0007t0008g0179 a0001c0007t0015g0052 a0001c0007t0008g0179 a0001c0007t0015g0052	2	390	0.0051	-32	c.-51 others(49): Show c.-51+6536_-51+6567delTGATGGGGTGGGTAGTGTGTCGGGTATG GGTG	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3			chr15	TogoVar
MINDY2_chr15_58766302_58866900	58826251	TGGAGTTT others(25): Show TGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTA	T T	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0328 a0001c0001t0027g0328	1	384	0.0026	-32	c.122 others(51): Show c.1225+4433_1225+4464delGGAGTTTTGCTCTTGTTGCCCAGGCT GGAGTA	MINDY2	ENSG00000128923.11	transcript	ENST00000559228.6	protein_coding	5/8			chr15	TogoVar
MINDY2_chr15_58766302_58866900	58852940	TTTTTTTT others(25): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18985.hp1 NA19000.hp1 others(1): Show HG02922.hp2 NA18985.hp1 NA19000.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0015 a0001c0001t0023 others(1): Show a0001c0001t0005 a0001c0001t0015 a0001c0001t0023 a0001c0002t0040	a0001c0001t0005g0216 a0001c0001t0015g0233 a0001c0001t0023g0232 others(1): Show a0001c0001t0005g0216 a0001c0001t0015g0233 a0001c0001t0023g0232 a0001c0002t0040g0109	4	384	0.0104	-32	c.173 others(50): Show c.1737+976_1737+1007delTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTAA	MINDY2	ENSG00000128923.11	transcript	ENST00000559228.6	protein_coding	8/8			chr15	TogoVar
MINDY4_chr7_30766417_30897387	30767419	GACACACA others(25): Show GACACACACACACACACACACATACACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 NA18940.hp2 HG00544.hp1 NA18940.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0274 a0002c0003t0001g0285 a0002c0003t0001g0274 a0002c0003t0001g0285	2	300	0.0067	-32	c.-40 others(43): Show c.-4074_-4043delACACACACACACACACACACATACACACACAC	MINDY4	ENSG00000106125.14	transcript	ENST00000265299.6	protein_coding		3997		chr7	TogoVar
MIOS_chr7_7561884_7613932	7597468	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01952.hp2 HG02015.hp1 others(1): Show HG01192.hp1 HG01952.hp2 HG02015.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0011 a0001c0001t0001 a0001c0009t0011	a0001c0001t0001g0156 a0001c0009t0011g0016 a0001c0009t0011g0048 a0001c0001t0001g0156 a0001c0009t0011g0016 a0001c0009t0011g0048	4	330	0.0121	-32	c.240 others(51): Show c.2401+1025_2401+1056delATATATATATATATATATATATATAT ATATAT	MIOS	ENSG00000164654.16	transcript	ENST00000340080.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
MKLN1_chr7_131322876_131501632	131376095	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp1 others(92): Show HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00597.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01168.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02300.hp1 HG02523.hp1 HG02602.hp1 HG02622.hp1 HG02738.hp2 HG02886.hp2 HG02922.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03239.hp2 HG03490.hp2 HG03579.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18975.hp1 NA18977.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18989.hp1 NA18993.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19058.hp1 NA19065.hp2 NA19070.hp2 NA19075.hp2 NA19081.hp2 NA19088.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(16): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0023 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0046 a0001c0001t0057 a0001c0001t0063 a0001c0001t0064	a0001c0001t0002g0048 a0001c0001t0002g0076 a0001c0001t0002g0077 others(92): Show a0001c0001t0002g0048 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0307 a0001c0001t0003g0217 a0001c0001t0012g0214 a0001c0001t0012g0228 a0001c0001t0012g0278 a0001c0001t0013g0231 a0001c0001t0014g0233 a0001c0001t0014g0240 a0001c0001t0014g0251 a0001c0001t0015g0241 a0001c0001t0015g0273 a0001c0001t0015g0274 a0001c0001t0020g0226 a0001c0001t0020g0227 a0001c0001t0023g0222 a0001c0001t0023g0223 a0001c0001t0037g0287 a0001c0001t0038g0235 a0001c0001t0039g0236 a0001c0001t0040g0302 a0001c0001t0041g0224 a0001c0001t0042g0118 a0001c0001t0044g0215 a0001c0001t0046g0232 a0001c0001t0057g0244 a0001c0001t0063g0238 a0001c0001t0064g0246	95	320	0.2969	-32	c.168 others(47): Show c.168+611_168+642delATATATATATATATATATATATATATATAT AT	MKLN1	ENSG00000128585.18	transcript	ENST00000352689.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
MKNK1_chr1_46552407_46609268	46585249	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	346	0.0029	-32	c.-2- others(47): Show c.-2-1952_-2-1921delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	MKNK1	ENSG00000079277.22	transcript	ENST00000371945.10	protein_coding	2/12			chr1	TogoVar

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