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
MCC_chr5_113017106_113493453	113299292	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp1 HG02559.hp2 others(4): Show HG00639.hp1 HG01243.hp1 HG02559.hp2 HG02965.hp2 HG02976.hp1 HG03453.hp1 NA19010.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0007 a0001c0018 a0002c0001 others(2): Show a0001c0007 a0001c0018 a0002c0001 a0002c0013 a0005c0033	a0001c0007t0006 a0001c0007t0020 a0001c0018t0007 others(3): Show a0001c0007t0006 a0001c0007t0020 a0001c0018t0007 a0002c0001t0003 a0002c0013t0016 a0005c0033t0016	a0001c0007t0006g0102 a0001c0007t0020g0103 a0001c0018t0007g0104 others(4): Show a0001c0007t0006g0102 a0001c0007t0020g0103 a0001c0018t0007g0104 a0001c0018t0007g0105 a0002c0001t0003g0126 a0002c0013t0016g0151 a0005c0033t0016g0005	7	160	0.0438	-24	c.627 others(43): Show c.627+41203_627+41226delTTTTTTTTTTTTTTTTTTTTTTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCF2L2_chr3_183173041_183433619	183206914	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0010 a0001c0023t0010	a0001c0023t0010g0008 a0001c0023t0010g0008	1	176	0.0057	-24	c.271 others(41): Show c.2712+670_2712+693delCCTTCCTTCCTTCCTTCCTTCCTT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	23/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183206951	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01167.hp2 HG01884.hp1 others(16): Show HG00558.hp2 HG01167.hp2 HG01884.hp1 HG02015.hp1 HG02056.hp2 HG02109.hp2 HG02132.hp1 HG02622.hp1 HG02895.hp1 HG03130.hp1 HG03139.hp2 HG03486.hp1 HG04184.hp2 NA18522.hp2 NA18941.hp1 NA18984.hp1 NA19010.hp2 NA19058.hp1 NA20905.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0015 a0019 a0025 a0027	a0001c0001 a0001c0033 a0002c0002 others(7): Show a0001c0001 a0001c0033 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0015c0018 a0019c0020 a0025c0031 a0027c0026	a0001c0001t0001 a0001c0033t0001 a0002c0002t0001 others(12): Show a0001c0001t0001 a0001c0033t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0019 a0003c0003t0003 a0003c0003t0015 a0004c0004t0002 a0004c0004t0004 a0004c0004t0005 a0006c0006t0003 a0015c0018t0003 a0019c0020t0005 a0025c0031t0003 a0027c0026t0003	a0001c0001t0001g0136 a0001c0033t0001g0035 a0002c0002t0001g0020 others(16): Show a0001c0001t0001g0136 a0001c0033t0001g0035 a0002c0002t0001g0020 a0002c0002t0002g0015 a0002c0002t0002g0034 a0002c0002t0002g0091 a0002c0002t0019g0158 a0003c0003t0003g0059 a0003c0003t0003g0084 a0003c0003t0003g0098 a0003c0003t0015g0080 a0004c0004t0002g0112 a0004c0004t0004g0052 a0004c0004t0005g0168 a0006c0006t0003g0005 a0015c0018t0003g0045 a0019c0020t0005g0170 a0025c0031t0003g0074 a0027c0026t0003g0110	19	176	0.1080	-24	c.271 others(41): Show c.2712+633_2712+656delCCCTTCCTTCCTTCCTTCCTTCCT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	23/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183206955	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02976.hp2 HG03516.hp1 others(2): Show HG02717.hp1 HG02976.hp2 HG03516.hp1 NA19240.hp2 NA21309.hp1	a0001 a0005 a0006 others(2): Show a0001 a0005 a0006 a0009 a0013	a0001c0001 a0005c0007 a0006c0006 others(2): Show a0001c0001 a0005c0007 a0006c0006 a0009c0032 a0013c0013	a0001c0001t0002 a0005c0007t0002 a0006c0006t0003 others(2): Show a0001c0001t0002 a0005c0007t0002 a0006c0006t0003 a0009c0032t0011 a0013c0013t0026	a0001c0001t0002g0146 a0005c0007t0002g0089 a0006c0006t0003g0118 others(2): Show a0001c0001t0002g0146 a0005c0007t0002g0089 a0006c0006t0003g0118 a0009c0032t0011g0152 a0013c0013t0026g0174	5	176	0.0284	-24	c.271 others(41): Show c.2712+629_2712+652delCCCTCCCTTCCTTCCTTCCTTCCT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	23/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183216576	ATATATTT others(17): Show ATATATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02056.hp2 HG02896.hp2 others(3): Show HG02015.hp1 HG02056.hp2 HG02896.hp2 HG03471.hp1 NA18747.hp1 NA18968.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0009 a0015	a0001c0001 a0003c0003 a0004c0004 others(2): Show a0001c0001 a0003c0003 a0004c0004 a0009c0010 a0015c0018	a0001c0001t0003 a0003c0003t0003 a0003c0003t0015 others(3): Show a0001c0001t0003 a0003c0003t0003 a0003c0003t0015 a0004c0004t0002 a0009c0010t0002 a0015c0018t0003	a0001c0001t0003g0139 a0003c0003t0003g0084 a0003c0003t0015g0080 others(3): Show a0001c0001t0003g0139 a0003c0003t0003g0084 a0003c0003t0015g0080 a0004c0004t0002g0013 a0009c0010t0002g0127 a0015c0018t0003g0108	6	176	0.0341	-24	c.237 others(41): Show c.2371-506_2371-483delAAAAAAAAAAAAAAAAAAAATATA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	21/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183342620	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01257.hp2 HG01884.hp2 others(5): Show HG01071.hp1 HG01257.hp2 HG01884.hp2 HG02109.hp2 HG02280.hp2 HG03453.hp2 NA18522.hp2 NA19240.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0009 a0016 a0025	a0001c0001 a0002c0002 a0004c0004 others(3): Show a0001c0001 a0002c0002 a0004c0004 a0009c0010 a0016c0015 a0025c0031	a0001c0001t0005 a0001c0001t0012 a0002c0002t0006 others(4): Show a0001c0001t0005 a0001c0001t0012 a0002c0002t0006 a0004c0004t0005 a0009c0010t0013 a0016c0015t0004 a0025c0031t0003	a0001c0001t0005g0172 a0001c0001t0012g0068 a0002c0002t0006g0051 others(5): Show a0001c0001t0005g0172 a0001c0001t0012g0068 a0002c0002t0006g0051 a0004c0004t0005g0168 a0009c0010t0013g0070 a0009c0010t0013g0116 a0016c0015t0004g0151 a0025c0031t0003g0074	8	176	0.0455	-24	c.276 others(40): Show c.276-1014_276-991delCACACACACACACACACACACACA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCF2L_chr13_112964214_113104742	113055382	CCACACAC others(17): Show CCACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0088 a0001c0005t0001g0088	1	116	0.0086	-24	c.370 others(41): Show c.370-5171_370-5148delACACACACACACACACACACACAC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	4/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCM10_chr10_13156558_13216110	13166653	CATACATA others(17): Show CATACATACATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03516.hp1 others(1): Show HG02896.hp2 HG02897.hp2 HG03516.hp1 NA19030.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0011 a0001c0001 a0010c0011	a0001c0001t0001 a0001c0001t0002 a0010c0011t0002 a0001c0001t0001 a0001c0001t0002 a0010c0011t0002	a0001c0001t0001g0069 a0001c0001t0002g0266 a0010c0011t0002g0005 a0001c0001t0001g0069 a0001c0001t0002g0266 a0010c0011t0002g0005	4	432	0.0093	-24	c.7+2 others(37): Show c.7+2448_7+2471delCATACATATATATATATATATATA	MCM10	ENSG00000065328.17	transcript	ENST00000378714.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCM10_chr10_13156558_13216110	13204990	GTATGTAT others(17): Show GTATGTATGTATGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01070.hp1 HG02056.hp2 others(13): Show HG00558.hp1 HG01070.hp1 HG02056.hp2 HG02738.hp2 HG02976.hp2 HG03669.hp1 HG04199.hp1 HG06807.hp1 NA18942.hp1 NA18971.hp2 NA18981.hp1 NA19002.hp1 NA19002.hp2 NA19066.hp2 NA19067.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0002t0008 a0001c0004t0004	a0001c0001t0001g0070 a0001c0001t0001g0096 a0001c0001t0001g0253 others(13): Show a0001c0001t0001g0070 a0001c0001t0001g0096 a0001c0001t0001g0253 a0001c0001t0001g0313 a0001c0001t0001g0337 a0001c0001t0008g0087 a0001c0002t0001g0017 a0001c0002t0001g0220 a0001c0002t0001g0355 a0001c0002t0001g0368 a0001c0002t0001g0388 a0001c0002t0008g0017 a0001c0002t0008g0242 a0001c0002t0008g0341 a0001c0004t0004g0148 a0001c0004t0004g0377	16	432	0.0370	-24	c.249 others(41): Show c.2498+630_2498+653delGTATGTATGTATATATATATATAT	MCM10	ENSG00000065328.17	transcript	ENST00000378714.8	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCM10_chr10_13156558_13216110	13204994	GTATGTAT others(17): Show GTATGTATGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02615.hp1 HG02809.hp2 others(3): Show HG01106.hp2 HG02615.hp1 HG02809.hp2 HG03225.hp1 HG03540.hp1 NA20300.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0006 a0005c0006t0007 a0005c0006t0017 a0005c0006t0006 a0005c0006t0007 a0005c0006t0017	a0005c0006t0006g0308 a0005c0006t0006g0374 a0005c0006t0007g0035 others(3): Show a0005c0006t0006g0308 a0005c0006t0006g0374 a0005c0006t0007g0035 a0005c0006t0007g0152 a0005c0006t0007g0272 a0005c0006t0017g0203	6	432	0.0139	-24	c.249 others(41): Show c.2498+634_2498+657delGTATGTATATATATATATATATAT	MCM10	ENSG00000065328.17	transcript	ENST00000378714.8	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCM5_chr22_35395140_35430431	35416511	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02257.hp2 HG02523.hp1 others(3): Show HG02129.hp2 HG02257.hp2 HG02523.hp1 HG02818.hp1 NA18994.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0002 a0001c0002t0003 a0001c0002t0006 others(1): Show a0001c0001t0002 a0001c0002t0003 a0001c0002t0006 a0003c0005t0006	a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0110 others(3): Show a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0110 a0001c0002t0003g0083 a0001c0002t0006g0087 a0003c0005t0006g0307	6	404	0.0149	-24	c.141 others(39): Show c.1414-89_1414-66delGTGTGTGTGTGTGTGTGTGTGTGT	MCM5	ENSG00000100297.16	transcript	ENST00000216122.9	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
MCM6_chr2_135834626_135881443	135835482	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG02559.hp2 HG02970.hp1 others(3): Show HG00733.hp1 HG02559.hp2 HG02970.hp1 HG03041.hp1 NA19030.hp1 NA20129.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0009 a0001c0001 a0001c0002 a0006c0009	a0001c0001t0001 a0001c0002t0007 a0001c0002t0019 others(1): Show a0001c0001t0001 a0001c0002t0007 a0001c0002t0019 a0006c0009t0007	a0001c0001t0001g0080 a0001c0002t0007g0093 a0001c0002t0007g0096 others(3): Show a0001c0001t0001g0080 a0001c0002t0007g0093 a0001c0002t0007g0096 a0001c0002t0007g0098 a0001c0002t0019g0095 a0006c0009t0007g0094	6	394	0.0152	-24	c.53 others(35): Show c.5329_*5352delTATATATATATATATATATATATA	MCM6	ENSG00000076003.5	transcript	ENST00000264156.3	protein_coding		4143		chr2	TogoVar
MCMBP_chr10_119824440_119877843	119836757	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG04184.hp2 HG03654.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0003 a0001c0001t0016	a0001c0001t0003g0053 a0001c0001t0016g0054 a0001c0001t0003g0053 a0001c0001t0016g0054	2	400	0.0050	-24	c.154 others(41): Show c.1542+115_1542+138delAAAAAAAAAAAAAAAAAAAAAAAA	MCMBP	ENSG00000197771.13	transcript	ENST00000369077.4	protein_coding	13/15			chr10	TogoVar
MCMBP_chr10_119824440_119877843	119844765	GACTGGCT others(17): Show GACTGGCTGAGTCTTCCGCCTCCAC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02615.hp1 HG02622.hp1 others(1): Show HG02145.hp1 HG02615.hp1 HG02622.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0158 a0001c0001t0002g0163 others(1): Show a0001c0001t0002g0112 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0002g0171	4	400	0.0100	-24	c.828 others(41): Show c.828-1363_828-1340delGTGGAGGCGGAAGACTCAGCCAGT	MCMBP	ENSG00000197771.13	transcript	ENST00000369077.4	protein_coding	8/15			chr10	TogoVar
MCOLN1_chr19_7517624_7539009	7520777	TTGATCCT others(17): Show TTGATCCTGTGCCCAGCCCAGACCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG06807.hp2 HG03540.hp1 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0017 a0001c0001 a0003c0017	a0001c0001t0001 a0003c0017t0001 a0001c0001t0001 a0003c0017t0001	a0001c0001t0001g0137 a0003c0017t0001g0116 a0001c0001t0001g0137 a0003c0017t0001g0116	2	414	0.0048	-24	c.-19 others(35): Show c.-1973_-1950delTGATCCTGTGCCCAGCCCAGACCC	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		1846		chr19	TogoVar
MCOLN2_chr1_84920583_85002113	84987560	GTATACAT others(17): Show GTATACATAGATGTATACATAGATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(125): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02809.hp1 HG02976.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19063.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0011 a0002c0002 others(1): Show a0001c0001 a0001c0011 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0011t0004 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(115): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0002g0197 a0001c0001t0002g0237 a0001c0001t0002g0242 a0001c0001t0002g0247 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0317 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0014 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0249 a0001c0001t0003g0301 a0001c0001t0003g0318 a0001c0001t0004g0081 a0001c0001t0004g0083 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0146 a0001c0001t0004g0148 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0159 a0001c0001t0004g0171 a0001c0001t0007g0051 a0001c0001t0007g0056 a0001c0001t0007g0060 a0001c0001t0007g0063 a0001c0001t0007g0073 a0001c0001t0007g0096 a0001c0001t0007g0108 a0001c0001t0007g0115 a0001c0001t0007g0135 a0001c0001t0007g0139 a0001c0001t0007g0144 a0001c0001t0007g0164 a0001c0001t0007g0170 a0001c0001t0009g0005 a0001c0001t0009g0048 a0001c0001t0009g0049 a0001c0001t0009g0050 a0001c0001t0009g0107 a0001c0001t0009g0152 a0001c0001t0009g0153 a0001c0001t0009g0178 a0001c0001t0015g0168 a0001c0001t0015g0176 a0001c0001t0016g0126 a0001c0001t0016g0172 a0001c0001t0017g0100 a0001c0001t0017g0158 a0001c0001t0018g0244 a0001c0001t0022g0163 a0001c0001t0023g0142 a0001c0001t0024g0151 a0001c0001t0027g0147 a0001c0001t0029g0133 a0001c0001t0030g0101 a0001c0011t0004g0112 a0002c0002t0002g0009 a0002c0002t0002g0236 a0002c0002t0002g0243 a0003c0003t0001g0086 a0003c0003t0001g0095	128	350	0.3657	-24	c.77+ others(39): Show c.77+9212_77+9235delTATCTATGTATACATCTATGTATA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding	1/13			chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84996393	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG03453.hp1 NA18974.hp1 others(1): Show HG02155.hp1 HG03453.hp1 NA18974.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0004g0179 others(1): Show a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0004g0179 a0001c0001t0006g0184	4	350	0.0114	-24	c.77+ others(37): Show c.77+379_77+402delATATATATATATATATATATATAT	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding	1/13			chr1	TogoVar
MCPH1_chr8_6401627_6653508	6419122	TACACATA others(17): Show TACACATACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02129.hp2 NA18994.hp2 HG00621.hp2 HG02129.hp2 NA18994.hp2	a0004 a0005 a0014 a0004 a0005 a0014	a0004c0006 a0005c0004 a0014c0025 a0004c0006 a0005c0004 a0014c0025	a0004c0006t0034 a0005c0004t0001 a0014c0025t0003 a0004c0006t0034 a0005c0004t0001 a0014c0025t0003	a0004c0006t0034g0084 a0005c0004t0001g0085 a0014c0025t0003g0086 a0004c0006t0034g0084 a0005c0004t0001g0085 a0014c0025t0003g0086	3	262	0.0115	-24	c.233 others(41): Show c.233+4245_233+4268delTACACACACACACACACACACACA	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCPH1_chr8_6401627_6653508	6576682	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02145.hp2 NA19078.hp1 HG01256.hp2 HG02145.hp2 NA19078.hp1	a0002 a0015 a0026 a0002 a0015 a0026	a0002c0002 a0015c0049 a0026c0032 a0002c0002 a0015c0049 a0026c0032	a0002c0002t0002 a0015c0049t0007 a0026c0032t0024 a0002c0002t0002 a0015c0049t0007 a0026c0032t0024	a0002c0002t0002g0021 a0015c0049t0007g0241 a0026c0032t0024g0213 a0002c0002t0002g0021 a0015c0049t0007g0241 a0026c0032t0024g0213	3	262	0.0115	-24	c.221 others(45): Show c.2215-44750_2215-44727delTTTTTTTTTTTTTTTTTTTTTTTT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCTP1_chr5_94698690_95290094	94752108	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp2 HG03453.hp1 others(1): Show HG02615.hp2 HG02809.hp2 HG03453.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0008 a0001c0001 a0001c0007 a0002c0008	a0001c0001t0007 a0001c0001t0009 a0001c0007t0030 others(1): Show a0001c0001t0007 a0001c0001t0009 a0001c0007t0030 a0002c0008t0009	a0001c0001t0007g0034 a0001c0001t0009g0006 a0001c0007t0030g0090 others(1): Show a0001c0001t0007g0034 a0001c0001t0009g0006 a0001c0007t0030g0090 a0002c0008t0009g0008	4	98	0.0408	-24	c.261 others(45): Show c.2610+26978_2610+27001delATATATATATATATATATATATAT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	19/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	95009056	AAGAGAGA others(17): Show AAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02145.hp1 HG00735.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0062 a0001c0002t0007g0088 a0001c0002t0007g0062 a0001c0002t0007g0088	2	98	0.0204	-24	c.838 others(41): Show c.838+8287_838+8310delCTCTCTCTCTCTCTCTCTCTCTCT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	2/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	95061408	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0051 a0001c0003t0026g0051	1	98	0.0102	-24	c.721 others(43): Show c.721-43948_721-43925delAAAAAAAAAAAAAAAAAAAAAAAA	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCTP2_chr15_94226561_94488952	94242984	CACGTGTA others(17): Show CACGTGTATATGTGTATCTACACAT	C C	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0169 a0002c0004t0005g0169	1	276	0.0036	-24	c.-66 others(43): Show c.-66+11323_-66+11346delGTGTATATGTGTATCTACACATAC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94298809	TCTCCCTC others(17): Show TCTCCCTCTCTCTTCCCCCCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0058 a0001c0001t0011g0058	1	276	0.0036	-24	c.465 others(39): Show c.465+116_465+139delTCCCCCCTCCCCCTCCCTCTCTCT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCU_chr10_72687143_72892694	72804017	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03540.hp2 HG03516.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0123 a0001c0001t0001g0015 a0001c0001t0001g0123	2	210	0.0095	-24	c.151 others(43): Show c.151-30308_151-30285delTATATATATATATATATATATATA	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MDFIC_chr7_114917094_115024917	115016644	CTAAATAA others(17): Show CTAAATAAATAAATAAATAAATAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG01891.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0062 a0001c0001t0040 a0001c0001t0062	a0001c0001t0040g0136 a0001c0001t0062g0119 a0001c0001t0040g0136 a0001c0001t0062g0119	2	334	0.0060	-24	c.73 others(33): Show c.730_*753delTAAATAAATAAATAAATAAATAAA	MDFIC	ENSG00000135272.13	transcript	ENST00000393486.6	protein_coding	5/5	730	INFO_REALIGN_3_PRIME	chr7	TogoVar
MDGA1_chr6_37625679_37702883	37664842	GACACACA others(17): Show GACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03834.hp2 HG00639.hp2 HG03834.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0038 a0001c0003t0038	a0001c0003t0038g0242 a0001c0003t0038g0243 a0001c0003t0038g0242 a0001c0003t0038g0243	2	402	0.0050	-24	c.68- others(37): Show c.68-760_68-737delGTGTGTGTGTGTGTGTGTGTGTGT	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding	1/16			chr6	TogoVar
MDGA1_chr6_37625679_37702883	37697807	GGGCTCCG others(17): Show GGGCTCCGGGGCGCGGCGGCCGCTC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02083.hp2 HG02486.hp2 others(17): Show HG01891.hp1 HG02083.hp2 HG02486.hp2 HG02602.hp1 HG03130.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03831.hp1 HG03927.hp2 NA18945.hp1 NA18963.hp1 NA18980.hp1 NA18993.hp1 NA19002.hp1 NA19043.hp2 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19086.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0001c0013 a0003c0009	a0001c0001t0007 a0001c0001t0022 a0001c0001t0030 others(10): Show a0001c0001t0007 a0001c0001t0022 a0001c0001t0030 a0001c0001t0031 a0001c0001t0046 a0001c0002t0030 a0001c0002t0049 a0001c0002t0050 a0001c0003t0047 a0001c0005t0048 a0001c0011t0007 a0001c0013t0007 a0003c0009t0032	a0001c0001t0007g0016 a0001c0001t0007g0018 a0001c0001t0022g0013 others(17): Show a0001c0001t0007g0016 a0001c0001t0007g0018 a0001c0001t0022g0013 a0001c0001t0022g0014 a0001c0001t0022g0024 a0001c0001t0030g0025 a0001c0001t0031g0019 a0001c0001t0031g0021 a0001c0001t0046g0028 a0001c0002t0030g0017 a0001c0002t0049g0029 a0001c0002t0050g0030 a0001c0003t0047g0022 a0001c0005t0048g0020 a0001c0011t0007g0026 a0001c0011t0007g0027 a0001c0013t0007g0011 a0001c0013t0007g0012 a0003c0009t0032g0015 a0003c0009t0032g0023	20	402	0.0498	-24	c.-10 others(34): Show c.-1020_-997delGAGCGGCCGCCGCGCCCCGGAGCC	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding	1/17	997		chr6	TogoVar
MDGA1_chr6_37625679_37702883	37698153	CCTTTCTC others(17): Show CCTTTCTCTTTCTCTTTCTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01255.hp1 HG01884.hp1 others(7): Show HG01243.hp2 HG01255.hp1 HG01884.hp1 HG01891.hp2 HG02602.hp1 NA18522.hp1 NA18974.hp2 NA18978.hp1 NA18993.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0031 a0001c0001t0042 a0001c0001t0046 a0001c0001t0058 a0001c0003t0025 a0001c0003t0081	a0001c0001t0001g0331 a0001c0001t0002g0298 a0001c0001t0004g0320 others(7): Show a0001c0001t0001g0331 a0001c0001t0002g0298 a0001c0001t0004g0320 a0001c0001t0012g0064 a0001c0001t0031g0019 a0001c0001t0042g0317 a0001c0001t0046g0028 a0001c0001t0058g0035 a0001c0003t0025g0316 a0001c0003t0081g0319	10	402	0.0249	-24	c.-13 others(35): Show c.-1366_-1343delAGAAAGAGAAAGAGAAAGAGAAAG	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		271		chr6	TogoVar
MDGA1_chr6_37625679_37702883	37698231	TTTCTCTC others(17): Show TTTCTCTCTCTCTCCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0178 a0001c0003t0008g0178	1	402	0.0025	-24	c.-14 others(35): Show c.-1444_-1421delGAGAGAGAGAGGAGAGAGAGAGAA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		349		chr6	TogoVar
MDGA2_chr14_46835092_47680605	46929601	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0012 a0001c0001t0008g0012	1	120	0.0083	-24	c.209 others(43): Show c.2090-9465_2090-9442delTATATATATATATATATATATATA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	9/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	46959251	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0073 a0002c0002t0005g0073	1	120	0.0083	-24	c.182 others(43): Show c.1820-1632_1820-1609delCACACACACACACACACACACACA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	46969930	TTCCATAT others(17): Show TTCCATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG00741.hp1 others(52): Show HG00323.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01517.hp1 HG01884.hp1 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02738.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03239.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18522.hp2 NA18906.hp1 NA18994.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp2 NA20805.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0005 a0001c0008 others(2): Show a0001c0001 a0001c0005 a0001c0008 a0003c0004 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0027 a0001c0001t0029 a0001c0005t0007 a0001c0008t0005 a0003c0004t0001 a0003c0004t0024 a0005c0007t0004	a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0055 others(52): Show a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0075 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0097 a0001c0001t0002g0110 a0001c0001t0003g0070 a0001c0001t0003g0118 a0001c0001t0004g0001 a0001c0001t0006g0048 a0001c0001t0006g0061 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0007g0004 a0001c0001t0007g0021 a0001c0001t0008g0010 a0001c0001t0009g0090 a0001c0001t0010g0026 a0001c0001t0012g0017 a0001c0001t0012g0019 a0001c0001t0013g0116 a0001c0001t0015g0046 a0001c0001t0015g0115 a0001c0001t0016g0002 a0001c0001t0018g0022 a0001c0001t0021g0030 a0001c0001t0023g0033 a0001c0001t0027g0054 a0001c0001t0029g0120 a0001c0005t0007g0024 a0001c0008t0005g0103 a0003c0004t0001g0100 a0003c0004t0024g0032 a0005c0007t0004g0009	55	120	0.4583	-24	c.182 others(45): Show c.1820-12311_1820-12288delTATATATATATATATATATATGGA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	46969933	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	120	0.0083	-24	c.182 others(45): Show c.1820-12314_1820-12291delATATATATATATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47053601	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18522.hp1 HG02135.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0052 a0001c0001t0010g0027 a0001c0001t0001g0052 a0001c0001t0010g0027	2	120	0.0167	-24	c.152 others(43): Show c.1525+7624_1525+7647delTATATATATATATATATATATATA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	7/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47053632	TATATATA others(17): Show TATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02698.hp2 HG03195.hp2 others(1): Show HG00323.hp2 HG02698.hp2 HG03195.hp2 HG03239.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0004c0003t0002	a0001c0001t0001g0043 a0001c0001t0003g0049 a0001c0001t0004g0016 others(1): Show a0001c0001t0001g0043 a0001c0001t0003g0049 a0001c0001t0004g0016 a0004c0003t0002g0036	4	120	0.0333	-24	c.152 others(43): Show c.1525+7593_1525+7616delGTATATATATATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	7/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47053634	TATATATA others(17): Show TATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	120	0.0083	-24	c.152 others(43): Show c.1525+7591_1525+7614delGTGTATATATATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	7/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47101102	TAGATAGA others(17): Show TAGATAGATAGATAGATAGATAGAC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0005 a0002c0010t0005	a0002c0010t0005g0119 a0002c0010t0005g0119	1	120	0.0083	-24	c.926 others(41): Show c.926-4003_926-3980delGTCTATCTATCTATCTATCTATCT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	5/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47323149	GATATATA others(17): Show GATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	120	0.0083	-24	c.281 others(43): Show c.281-21623_281-21600delATATATATATATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47389153	TCAAATAC others(17): Show TCAAATACATCCAGCACAGTACTAG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01884.hp2 HG02145.hp2 others(7): Show HG01099.hp2 HG01884.hp2 HG02145.hp2 HG02451.hp2 HG02572.hp2 HG02615.hp2 HG02922.hp1 HG03195.hp1 HG03225.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0002c0002t0005	a0001c0001t0001g0045 a0001c0001t0001g0108 a0001c0001t0001g0109 others(7): Show a0001c0001t0001g0045 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0004g0015 a0002c0002t0001g0114 a0002c0002t0005g0105 a0002c0002t0005g0107	10	120	0.0833	-24	c.281 others(43): Show c.281-87627_281-87604delCTAGTACTGTGCTGGATGTATTTG	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47609428	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0048 a0001c0001t0006g0048	1	120	0.0083	-24	c.280 others(43): Show c.280+65065_280+65088delATATATATATATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDH2_chr7_76043106_76072508	76046274	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00738.hp1 HG01069.hp1 others(25): Show HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG01515.hp1 HG01516.hp2 HG02074.hp1 HG02148.hp2 HG02293.hp2 HG02602.hp2 HG02698.hp2 HG02897.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18957.hp1 NA18966.hp1 NA18981.hp1 NA18985.hp1 NA18987.hp1 NA18989.hp2 NA18994.hp1 NA19070.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0003 a0002c0002t0002 a0003c0003t0002 a0001c0001t0003 a0002c0002t0002 a0003c0003t0002	a0001c0001t0003g0031 a0001c0001t0003g0078 a0001c0001t0003g0088 others(17): Show a0001c0001t0003g0031 a0001c0001t0003g0078 a0001c0001t0003g0088 a0002c0002t0002g0001 a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0028 a0002c0002t0002g0041 a0002c0002t0002g0043 a0002c0002t0002g0116 a0002c0002t0002g0118 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0135 a0002c0002t0002g0138 a0002c0002t0002g0142 a0003c0003t0002g0003 a0003c0003t0002g0059	28	398	0.0704	-24	c.-18 others(35): Show c.-1886_-1863delTGTGTGTGTGTGTGTGTGTGTGTG	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1831		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046317	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG02056.hp1 HG02622.hp1 others(3): Show HG01516.hp1 HG02056.hp1 HG02622.hp1 HG02922.hp1 NA18977.hp2 NA19080.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0006 a0003c0003 a0001c0001 a0002c0006 a0003c0003	a0001c0001t0003 a0002c0006t0006 a0003c0003t0002 a0001c0001t0003 a0002c0006t0006 a0003c0003t0002	a0001c0001t0003g0014 a0001c0001t0003g0033 a0001c0001t0003g0077 others(3): Show a0001c0001t0003g0014 a0001c0001t0003g0033 a0001c0001t0003g0077 a0001c0001t0003g0090 a0002c0006t0006g0030 a0003c0003t0002g0003	6	398	0.0151	-24	c.-18 others(35): Show c.-1843_-1820delGTGTGTGTGTGTGTGTGTGTGTGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1788		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046319	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0067 a0002c0002t0006g0067	1	398	0.0025	-24	c.-18 others(35): Show c.-1841_-1818delGTGTGTGTGTGTGTGTGTGTGCGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1786		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046321	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 NA19240.hp1 HG01109.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0048 a0002c0002t0002g0123 a0001c0001t0003g0048 a0002c0002t0002g0123	2	398	0.0050	-24	c.-18 others(35): Show c.-1839_-1816delGTGTGTGTGTGTGTGTGTGCGCGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1784		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046323	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGCGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG03704.hp2 NA18982.hp1 HG02015.hp2 HG03704.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0016	3	398	0.0075	-24	c.-18 others(35): Show c.-1837_-1814delGTGTGTGTGTGTGTGTGCGCGCGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1782		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046325	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGCGCGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02135.hp1 HG02257.hp1 others(8): Show HG00673.hp2 HG02135.hp1 HG02257.hp1 HG03491.hp1 HG03491.hp2 NA18948.hp2 NA18954.hp2 NA18959.hp1 NA18971.hp1 NA19065.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0106 others(7): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0106 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0228	11	398	0.0276	-24	c.-18 others(35): Show c.-1835_-1812delGTGTGTGTGTGTGTGCGCGCGCGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1780		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046327	TGTGTGTG others(17): Show TGTGTGTGTGTGTGCGCGCGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	398	0.0025	-24	c.-18 others(35): Show c.-1833_-1810delGTGTGTGTGTGTGCGCGCGCGCGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1778		chr7	TogoVar
MDH2_chr7_76043106_76072508	76055822	GTCACCAA others(17): Show GTCACCAAATTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	398	0.0025	-24	c.235 others(39): Show c.235+825_235+848delTCACCAAATTTTTTTTTTTTTTTT	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding	2/8			chr7	TogoVar
ME1_chr6_83205402_83436051	83369653	GAGGAAGG others(17): Show GAGGAAGGAAGGAAGGAACGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01123.hp2 HG02723.hp1 others(6): Show HG00733.hp2 HG01123.hp2 HG02723.hp1 HG02970.hp2 HG03098.hp1 HG03579.hp2 NA18973.hp2 NA18979.hp2 NA19084.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0012 a0001c0001 a0001c0002 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0004c0012t0002	a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 others(6): Show a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0002g0029 a0001c0002t0001g0040 a0004c0012t0002g0031	9	272	0.0331	-24	c.363 others(43): Show c.363-17538_363-17515delTCCTTCGTTCCTTCCTTCCTTCCT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar

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