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
MCC_chr5_113017106_113493453	113145737	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02965.hp1 HG03453.hp2 others(1): Show HG01496.hp2 HG02965.hp1 HG03453.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0041 a0003c0014 a0001c0003 a0001c0041 a0003c0014	a0001c0003t0001 a0001c0003t0009 a0001c0041t0045 others(1): Show a0001c0003t0001 a0001c0003t0009 a0001c0041t0045 a0003c0014t0005	a0001c0003t0001g0100 a0001c0003t0009g0075 a0001c0041t0045g0067 others(1): Show a0001c0003t0001g0100 a0001c0003t0009g0075 a0001c0041t0045g0067 a0003c0014t0005g0026	4	160	0.0250	-22	c.742 others(39): Show c.742-2399_742-2378delGTGTGTGTGTGTGTGTGTGTGT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	4/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113145763	CACACACA others(15): Show CACACACACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01070.hp2 others(20): Show HG00741.hp1 HG00741.hp2 HG01070.hp2 HG02257.hp1 HG02559.hp1 HG02622.hp1 HG02723.hp1 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03516.hp1 HG03654.hp2 HG04115.hp1 HG04199.hp2 NA18522.hp2 NA18945.hp1 NA18970.hp2 NA19002.hp1 NA19010.hp1 NA19043.hp2 NA19065.hp1 NA19082.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0001c0007 a0001c0008 others(13): Show a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0017 a0001c0023 a0001c0026 a0002c0001 a0002c0002 a0002c0013 a0002c0056 a0003c0005 a0003c0015 a0003c0020 a0003c0039	a0001c0004t0003 a0001c0007t0022 a0001c0008t0003 others(18): Show a0001c0004t0003 a0001c0007t0022 a0001c0008t0003 a0001c0009t0011 a0001c0011t0004 a0001c0017t0003 a0001c0017t0006 a0001c0023t0010 a0001c0023t0040 a0001c0026t0003 a0002c0001t0002 a0002c0001t0003 a0002c0001t0033 a0002c0002t0001 a0002c0013t0015 a0002c0056t0003 a0003c0005t0001 a0003c0015t0011 a0003c0015t0036 a0003c0020t0003 a0003c0039t0004	a0001c0004t0003g0093 a0001c0007t0022g0108 a0001c0008t0003g0065 others(20): Show a0001c0004t0003g0093 a0001c0007t0022g0108 a0001c0008t0003g0065 a0001c0009t0011g0070 a0001c0011t0004g0054 a0001c0017t0003g0044 a0001c0017t0006g0055 a0001c0023t0010g0059 a0001c0023t0040g0057 a0001c0026t0003g0082 a0002c0001t0002g0125 a0002c0001t0003g0126 a0002c0001t0033g0142 a0002c0002t0001g0129 a0002c0013t0015g0130 a0002c0056t0003g0135 a0003c0005t0001g0020 a0003c0005t0001g0021 a0003c0015t0011g0030 a0003c0015t0011g0031 a0003c0015t0036g0018 a0003c0020t0003g0022 a0003c0039t0004g0029	23	160	0.1438	-22	c.742 others(39): Show c.742-2425_742-2404delTTGTGTGTGTGTGTGTGTGTGT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	4/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113161620	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp2 HG01070.hp1 others(5): Show HG00323.hp2 HG00621.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG02809.hp2 NA19065.hp2 NA19083.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0001c0012 a0001c0027 others(1): Show a0001c0004 a0001c0012 a0001c0027 a0003c0036	a0001c0004t0002 a0001c0012t0005 a0001c0012t0013 others(2): Show a0001c0004t0002 a0001c0012t0005 a0001c0012t0013 a0001c0027t0001 a0003c0036t0007	a0001c0004t0002g0068 a0001c0004t0002g0069 a0001c0012t0005g0081 others(5): Show a0001c0004t0002g0068 a0001c0004t0002g0069 a0001c0012t0005g0081 a0001c0012t0013g0088 a0001c0012t0013g0090 a0001c0012t0013g0091 a0001c0027t0001g0089 a0003c0036t0007g0007	8	160	0.0500	-22	c.628 others(41): Show c.628-10220_628-10199delCACACACACACACACACACACA	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113299292	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18998.hp1 HG02040.hp2 NA18998.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0006 a0002c0001 a0003c0006	a0002c0001t0002 a0003c0006t0002 a0002c0001t0002 a0003c0006t0002	a0002c0001t0002g0144 a0003c0006t0002g0015 a0002c0001t0002g0144 a0003c0006t0002g0015	2	160	0.0125	-22	c.627 others(41): Show c.627+41205_627+41226delTTTTTTTTTTTTTTTTTTTTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCF2L2_chr3_183173041_183433619	183216570	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02280.hp1 HG02735.hp2 others(1): Show HG00738.hp2 HG02280.hp1 HG02735.hp2 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0030 a0001c0001t0001g0047 a0002c0002t0001g0009 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0047 a0002c0002t0001g0009 a0002c0002t0001g0092	4	176	0.0227	-22	c.237 others(39): Show c.2371-498_2371-477delAAAAAAAAAAAATATATATATA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	21/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183216572	ATATATAT others(15): Show ATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA19088.hp1 NA18985.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0021 a0003c0003t0003g0083 a0001c0001t0001g0021 a0003c0003t0003g0083	2	176	0.0114	-22	c.237 others(39): Show c.2371-500_2371-479delAAAAAAAAAAAAAATATATATA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	21/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183216574	ATATATAT others(15): Show ATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	176	0.0057	-22	c.237 others(39): Show c.2371-502_2371-481delAAAAAAAAAAAAAAAATATATA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	21/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183342620	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	176	0.0057	-22	c.276 others(38): Show c.276-1012_276-991delCACACACACACACACACACACA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183351190	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0022 a0022	a0022c0024 a0022c0024	a0022c0024t0003 a0022c0024t0003	a0022c0024t0003g0058 a0022c0024t0003g0058	1	176	0.0057	-22	c.276 others(39): Show c.276-9582_276-9561delTATATATATATATATATATATA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCF2L_chr13_112964214_113104742	113056856	TTCGGCGC others(15): Show TTCGGCGCTGAGTGGGTGCTGAG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0031 a0001c0012t0031	a0001c0012t0031g0021 a0001c0012t0031g0021	1	116	0.0086	-22	c.370 others(39): Show c.370-3735_370-3714delCGGCGCTGAGTGGGTGCTGAGT	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	4/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113061771	CCCCTCCC others(15): Show CCCCTCCCCTCCCTCTCCCCCTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	116	0.0086	-22	c.489 others(39): Show c.489+1063_489+1084delTCCCCTCCCTCTCCCCCTTCCC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCHR1_chr22_40674484_40687812	40687678	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0005 a0001c0001t0010g0005	1	406	0.0025	-22	c.57 others(33): Show c.5751_*5772delAAAAAAAAAAAAAAAAAAAAAA	MCHR1	ENSG00000128285.5	transcript	ENST00000249016.5	protein_coding		4867		chr22	TogoVar
MCM10_chr10_13156558_13216110	13166653	CATACATA others(15): Show CATACATACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	2	432	0.0046	-22	c.7+2 others(35): Show c.7+2448_7+2469delCATACATATATATATATATATA	MCM10	ENSG00000065328.17	transcript	ENST00000378714.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCM10_chr10_13156558_13216110	13204990	GTATGTAT others(15): Show GTATGTATGTATGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01515.hp2 HG03688.hp2 others(6): Show HG01346.hp1 HG01515.hp2 HG03688.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA19057.hp2 NA19075.hp1 NA20805.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0015 a0001c0001 a0001c0002 a0009c0015	a0001c0001t0001 a0001c0002t0001 a0009c0015t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0009c0015t0001 a0009c0015t0002	a0001c0001t0001g0281 a0001c0001t0001g0362 a0001c0001t0001g0364 others(6): Show a0001c0001t0001g0281 a0001c0001t0001g0362 a0001c0001t0001g0364 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0179 a0001c0002t0001g0244 a0009c0015t0001g0303 a0009c0015t0002g0215	9	432	0.0208	-22	c.249 others(39): Show c.2498+630_2498+651delGTATGTATGTATATATATATAT	MCM10	ENSG00000065328.17	transcript	ENST00000378714.8	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCM5_chr22_35395140_35430431	35416511	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG01109.hp2 others(20): Show HG00408.hp1 HG00597.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01884.hp2 HG02055.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02970.hp2 HG03130.hp1 HG03209.hp2 HG03927.hp1 HG04228.hp1 NA18941.hp2 NA18953.hp1 NA18986.hp1 NA18988.hp1 NA19063.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0009 a0001c0001 a0001c0002 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0003 a0007c0009t0003	a0001c0001t0001g0136 a0001c0001t0001g0271 a0001c0001t0002g0286 others(14): Show a0001c0001t0001g0136 a0001c0001t0001g0271 a0001c0001t0002g0286 a0001c0001t0005g0024 a0001c0001t0005g0063 a0001c0002t0003g0003 a0001c0002t0003g0026 a0001c0002t0003g0028 a0001c0002t0003g0056 a0001c0002t0003g0059 a0001c0002t0003g0072 a0001c0002t0003g0074 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0081 a0001c0002t0003g0085 a0007c0009t0003g0003	23	404	0.0569	-22	c.141 others(37): Show c.1414-87_1414-66delGTGTGTGTGTGTGTGTGTGTGT	MCM5	ENSG00000100297.16	transcript	ENST00000216122.9	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
MCM6_chr2_135834626_135881443	135835994	ATATATAT others(15): Show ATATATATATATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0018 a0002c0004t0018	a0002c0004t0018g0166 a0002c0004t0018g0166	1	394	0.0025	-22	c.48 others(33): Show c.4819_*4840delCATATATATATATATATATATA	MCM6	ENSG00000076003.5	transcript	ENST00000264156.3	protein_coding		3631		chr2	TogoVar
MCMBP_chr10_119824440_119877843	119836757	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	400	0.0025	-22	c.154 others(39): Show c.1542+117_1542+138delAAAAAAAAAAAAAAAAAAAAAA	MCMBP	ENSG00000197771.13	transcript	ENST00000369077.4	protein_coding	13/15			chr10	TogoVar
MCPH1_chr8_6401627_6653508	6576682	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02523.hp2 HG03098.hp1 others(3): Show HG02280.hp1 HG02523.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03579.hp1	a0002 a0003 a0011 others(2): Show a0002 a0003 a0011 a0020 a0029	a0002c0008 a0003c0016 a0011c0011 others(2): Show a0002c0008 a0003c0016 a0011c0011 a0020c0028 a0029c0058	a0002c0008t0001 a0003c0016t0007 a0011c0011t0001 others(2): Show a0002c0008t0001 a0003c0016t0007 a0011c0011t0001 a0020c0028t0022 a0029c0058t0025	a0002c0008t0001g0171 a0003c0016t0007g0130 a0011c0011t0001g0115 others(3): Show a0002c0008t0001g0171 a0003c0016t0007g0130 a0011c0011t0001g0115 a0020c0028t0022g0040 a0020c0028t0022g0041 a0029c0058t0025g0224	6	262	0.0229	-22	c.221 others(43): Show c.2215-44748_2215-44727delTTTTTTTTTTTTTTTTTTTTTT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCTP1_chr5_94698690_95290094	94752108	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03130.hp2 HG02055.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0020 a0001c0010t0002 a0001c0001t0020 a0001c0010t0002	a0001c0001t0020g0004 a0001c0010t0002g0098 a0001c0001t0020g0004 a0001c0010t0002g0098	2	98	0.0204	-22	c.261 others(43): Show c.2610+26980_2610+27001delATATATATATATATATATATAT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	19/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94953850	TATATATA others(15): Show TATATATATGCATATATATACAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02572.hp2 HG02922.hp2 others(3): Show HG00735.hp1 HG02572.hp2 HG02922.hp2 HG03098.hp1 HG03139.hp1 NA18964.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0001c0013 a0003c0015	a0001c0001t0004 a0001c0002t0007 a0001c0007t0011 others(3): Show a0001c0001t0004 a0001c0002t0007 a0001c0007t0011 a0001c0009t0004 a0001c0013t0025 a0003c0015t0002	a0001c0001t0004g0005 a0001c0002t0007g0088 a0001c0007t0011g0070 others(3): Show a0001c0001t0004g0005 a0001c0002t0007g0088 a0001c0007t0011g0070 a0001c0009t0004g0014 a0001c0013t0025g0015 a0003c0015t0002g0096	6	98	0.0612	-22	c.839 others(37): Show c.839-511_839-490delTTGTATATATATGCATATATAT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	2/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94954092	GCATATAT others(15): Show GCATATATATACATATATATGAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp1 HG03130.hp2 HG02615.hp1 HG02809.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0010 a0001c0001 a0001c0006 a0001c0010	a0001c0001t0014 a0001c0006t0024 a0001c0010t0002 a0001c0001t0014 a0001c0006t0024 a0001c0010t0002	a0001c0001t0014g0091 a0001c0006t0024g0016 a0001c0010t0002g0098 a0001c0001t0014g0091 a0001c0006t0024g0016 a0001c0010t0002g0098	3	98	0.0306	-22	c.839 others(37): Show c.839-753_839-732delTTCATATATATGTATATATATG	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	2/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94954125	AATATATA others(15): Show AATATATATATGCATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02622.hp1 HG02809.hp2 others(2): Show HG01255.hp1 HG02622.hp1 HG02809.hp2 NA19030.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0009 a0001c0010 others(2): Show a0001c0003 a0001c0009 a0001c0010 a0001c0016 a0002c0008	a0001c0003t0002 a0001c0009t0018 a0001c0010t0002 others(2): Show a0001c0003t0002 a0001c0009t0018 a0001c0010t0002 a0001c0016t0023 a0002c0008t0009	a0001c0003t0002g0092 a0001c0009t0018g0013 a0001c0010t0002g0097 others(2): Show a0001c0003t0002g0092 a0001c0009t0018g0013 a0001c0010t0002g0097 a0001c0016t0023g0012 a0002c0008t0009g0008	5	98	0.0510	-22	c.839 others(37): Show c.839-786_839-765delGTATATATATGCATATATATAT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	2/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	95134992	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0053 a0001c0014t0001g0053	1	98	0.0102	-22	c.721 others(43): Show c.721-117530_721-117509delTTTTTTTTTTTTTTTTTTTTTT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	95201464	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01884.hp2 HG02135.hp1 others(10): Show HG00140.hp2 HG01884.hp2 HG02135.hp1 HG02615.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03471.hp2 HG03492.hp1 HG03927.hp1 NA18950.hp2 NA18952.hp2 NA18964.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0002c0005 a0003c0015	a0001c0001t0002 a0001c0001t0014 a0001c0001t0037 others(9): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0037 a0001c0002t0001 a0001c0002t0006 a0001c0003t0033 a0001c0004t0008 a0001c0004t0035 a0001c0010t0002 a0002c0005t0004 a0002c0005t0005 a0003c0015t0002	a0001c0001t0002g0064 a0001c0001t0014g0091 a0001c0001t0037g0094 others(10): Show a0001c0001t0002g0064 a0001c0001t0014g0091 a0001c0001t0037g0094 a0001c0002t0001g0093 a0001c0002t0006g0079 a0001c0002t0006g0085 a0001c0003t0033g0081 a0001c0004t0008g0080 a0001c0004t0035g0065 a0001c0010t0002g0098 a0002c0005t0004g0010 a0002c0005t0005g0060 a0003c0015t0002g0096	13	98	0.1327	-22	c.720 others(41): Show c.720+82370_720+82391delAAAAAAAAAAAAAAAAAAAAAA	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCTP2_chr15_94226561_94488952	94245369	CATACATA others(15): Show CATACATATGTATATGTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03209.hp2 HG03486.hp2 HG00735.hp2 HG03209.hp2 HG03486.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0014 a0001c0001 a0001c0002 a0005c0014	a0001c0001t0001 a0001c0002t0001 a0005c0014t0045 a0001c0001t0001 a0001c0002t0001 a0005c0014t0045	a0001c0001t0001g0177 a0001c0002t0001g0175 a0005c0014t0045g0176 a0001c0001t0001g0177 a0001c0002t0001g0175 a0005c0014t0045g0176	3	276	0.0109	-22	c.-66 others(41): Show c.-66+13712_-66+13733delATGTATATGTATTTATATACAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94245384	GTATTTAT others(15): Show GTATTTATATACATGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(96): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00558.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01978.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04204.hp1 NA18944.hp2 NA18951.hp1 NA18951.hp2 NA18977.hp1 NA18979.hp1 NA18983.hp2 NA19002.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19064.hp2 NA19080.hp1 NA19083.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0007 a0011 a0013 a0015	a0001c0001 a0001c0002 a0001c0005 others(14): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0010 a0001c0013 a0001c0017 a0001c0027 a0002c0003 a0002c0004 a0002c0019 a0004c0008 a0006c0011 a0007c0018 a0011c0021 a0013c0023 a0015c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0032 a0001c0001t0048 a0001c0001t0056 a0001c0001t0057 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0017 a0001c0002t0036 a0001c0002t0046 a0001c0002t0051 a0001c0002t0058 a0001c0005t0009 a0001c0006t0009 a0001c0006t0049 a0001c0010t0023 a0001c0013t0001 a0001c0013t0037 a0001c0017t0013 a0001c0027t0002 a0002c0003t0005 a0002c0003t0007 a0002c0003t0008 a0002c0003t0010 a0002c0003t0024 a0002c0003t0025 a0002c0004t0005 a0002c0004t0008 a0002c0004t0010 a0002c0019t0030 a0004c0008t0019 a0004c0008t0022 a0006c0011t0011 a0006c0011t0014 a0007c0018t0026 a0011c0021t0013 a0013c0023t0001 a0015c0020t0001	a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0049 others(96): Show a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0069 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0231 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0273 a0001c0001t0002g0031 a0001c0001t0002g0072 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0002g0232 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0001t0003g0228 a0001c0001t0003g0265 a0001c0001t0006g0062 a0001c0001t0006g0066 a0001c0001t0009g0030 a0001c0001t0011g0028 a0001c0001t0011g0050 a0001c0001t0012g0075 a0001c0001t0014g0076 a0001c0001t0032g0081 a0001c0001t0048g0255 a0001c0001t0056g0026 a0001c0001t0057g0090 a0001c0002t0001g0024 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0001g0225 a0001c0002t0001g0235 a0001c0002t0001g0243 a0001c0002t0001g0246 a0001c0002t0001g0254 a0001c0002t0001g0268 a0001c0002t0002g0080 a0001c0002t0002g0085 a0001c0002t0002g0242 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0003g0064 a0001c0002t0003g0247 a0001c0002t0004g0227 a0001c0002t0006g0025 a0001c0002t0006g0241 a0001c0002t0006g0253 a0001c0002t0017g0245 a0001c0002t0036g0244 a0001c0002t0046g0029 a0001c0002t0051g0272 a0001c0002t0058g0234 a0001c0005t0009g0248 a0001c0005t0009g0264 a0001c0006t0009g0088 a0001c0006t0049g0236 a0001c0010t0023g0266 a0001c0010t0023g0267 a0001c0013t0001g0034 a0001c0013t0037g0224 a0001c0017t0013g0023 a0001c0027t0002g0257 a0002c0003t0005g0040 a0002c0003t0005g0073 a0002c0003t0007g0027 a0002c0003t0007g0065 a0002c0003t0007g0067 a0002c0003t0007g0250 a0002c0003t0007g0262 a0002c0003t0008g0038 a0002c0003t0008g0042 a0002c0003t0008g0082 a0002c0003t0010g0259 a0002c0003t0024g0077 a0002c0003t0025g0078 a0002c0004t0005g0229 a0002c0004t0005g0249 a0002c0004t0005g0251 a0002c0004t0005g0263 a0002c0004t0005g0271 a0002c0004t0008g0041 a0002c0004t0010g0063 a0002c0019t0030g0070 a0004c0008t0019g0035 a0004c0008t0022g0053 a0006c0011t0011g0274 a0006c0011t0014g0233 a0007c0018t0026g0033 a0011c0021t0013g0091 a0013c0023t0001g0032 a0015c0020t0001g0261	99	276	0.3587	-22	c.-66 others(41): Show c.-66+13753_-66+13774delCATGTGTGTATATATTTATATA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94298929	TTCCCTCT others(15): Show TTCCCTCTCCCTCTCTCCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02615.hp2 HG03225.hp2 HG02257.hp1 HG02615.hp2 HG03225.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0013c0023 a0001c0001 a0001c0002 a0013c0023	a0001c0001t0056 a0001c0002t0006 a0013c0023t0001 a0001c0001t0056 a0001c0002t0006 a0013c0023t0001	a0001c0001t0056g0026 a0001c0002t0006g0025 a0013c0023t0001g0032 a0001c0001t0056g0026 a0001c0002t0006g0025 a0013c0023t0001g0032	3	276	0.0109	-22	c.465 others(37): Show c.465+208_465+229delCCTCTCTCCCTCTCTCCCTCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94298948	TCTCTCCC others(15): Show TCTCTCCCTCTCTCCCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0088 a0001c0006t0009g0088	1	276	0.0036	-22	c.465 others(37): Show c.465+230_465+251delTCCCTCTCTCCCTCTCCCTCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94390092	ATATATAT others(15): Show ATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA21309.hp2 HG02809.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0057 a0001c0001t0038 a0001c0001t0057	a0001c0001t0038g0151 a0001c0001t0057g0090 a0001c0001t0038g0151 a0001c0001t0057g0090	2	276	0.0073	-22	c.178 others(41): Show c.1788+4586_1788+4607delTATGTATATATATATATATATA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94407775	GCACACAC others(15): Show GCACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp1 HG01255.hp1 others(3): Show HG00741.hp2 HG01123.hp1 HG01255.hp1 HG02257.hp1 HG03579.hp1 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0006 a0002c0003t0005 others(1): Show a0001c0002t0001 a0001c0002t0006 a0002c0003t0005 a0002c0003t0029	a0001c0002t0001g0068 a0001c0002t0001g0162 a0001c0002t0001g0243 others(3): Show a0001c0002t0001g0068 a0001c0002t0001g0162 a0001c0002t0001g0243 a0001c0002t0006g0025 a0002c0003t0005g0040 a0002c0003t0029g0139	6	276	0.0217	-22	c.208 others(41): Show c.2085+5777_2085+5798delCACACACACACACACACACACA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCUR1_chr6_13781557_13819557	13793163	ACTTTCAT others(15): Show ACTTTCATTAAGAAAGTTTAAAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0074 a0002c0002t0005g0074	1	424	0.0024	-22	c.909 others(37): Show c.909+709_909+730delATTTAAACTTTCTTAATGAAAG	MCUR1	ENSG00000050393.12	transcript	ENST00000379170.9	protein_coding	7/8			chr6	TogoVar
MCU_chr10_72687143_72892694	72706483	TGTCGGTA others(15): Show TGTCGGTATTTATTTCTTTGGTA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02976.hp1 NA20129.hp2 HG02723.hp1 HG02976.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0115	3	210	0.0143	-22	c.150 others(41): Show c.150+14183_150+14204delGTCGGTATTTATTTCTTTGGTA	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7			chr10	TogoVar
MCU_chr10_72687143_72892694	72804017	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02717.hp2 HG02970.hp1 HG00423.hp2 HG02717.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0025 a0001c0001t0001g0125 a0001c0001t0005g0076 a0001c0001t0001g0025 a0001c0001t0001g0125 a0001c0001t0005g0076	3	210	0.0143	-22	c.151 others(41): Show c.151-30306_151-30285delTATATATATATATATATATATA	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCU_chr10_72687143_72892694	72805079	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02970.hp1 NA20129.hp1 HG02055.hp2 HG02970.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0025	3	210	0.0143	-22	c.151 others(41): Show c.151-29256_151-29235delCTTTCTTTCTTTCTTTCTTTCT	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MDFIC2_chr3_70189479_70317638	70245671	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0017 a0002c0002t0004g0017	1	370	0.0027	-22	c.89- others(39): Show c.89-38903_89-38882delTATATATATATATATATATATA	MDFIC2	ENSG00000242120.4	transcript	ENST00000567252.2	protein_coding	2/3			chr3	TogoVar
MDGA1_chr6_37625679_37702883	37626617	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01255.hp1 HG01891.hp1 HG01243.hp2 HG01255.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0022 a0001c0001t0058 a0001c0001t0012 a0001c0001t0022 a0001c0001t0058	a0001c0001t0012g0064 a0001c0001t0022g0014 a0001c0001t0058g0035 a0001c0001t0012g0064 a0001c0001t0022g0014 a0001c0001t0058g0035	3	402	0.0075	-22	c.10 others(35): Show c.10729_*10750delAAAAAAAAAAAAAAAAAAAAAA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		4061		chr6	TogoVar
MDGA1_chr6_37625679_37702883	37648492	TGGAGCCT others(15): Show TGGAGCCTACGCCTTACGCAGGC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01255.hp2 HG01192.hp1 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0018 a0001c0002 a0001c0018	a0001c0002t0003 a0001c0018t0003 a0001c0002t0003 a0001c0018t0003	a0001c0002t0003g0194 a0001c0018t0003g0346 a0001c0002t0003g0194 a0001c0018t0003g0346	2	402	0.0050	-22	c.189 others(39): Show c.1894+468_1894+489delGCCTGCGTAAGGCGTAGGCTCC	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding	9/16			chr6	TogoVar
MDGA1_chr6_37625679_37702883	37664842	GACACACA others(15): Show GACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03710.hp2 HG00099.hp1 HG03710.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0027 a0001c0003t0006 a0001c0003t0027	a0001c0003t0006g0125 a0001c0003t0027g0184 a0001c0003t0006g0125 a0001c0003t0027g0184	2	402	0.0050	-22	c.68- others(35): Show c.68-758_68-737delGTGTGTGTGTGTGTGTGTGTGT	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding	1/16			chr6	TogoVar
MDGA1_chr6_37625679_37702883	37697976	GGTCTCTC others(15): Show GGTCTCTCGCTCTCCCACCCGTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0197 a0001c0002t0001g0197	1	402	0.0025	-22	c.-11 others(33): Show c.-1187_-1166delAACGGGTGGGAGAGCGAGAGAC	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		94		chr6	TogoVar
MDGA1_chr6_37625679_37702883	37698158	CTCTTTCT others(15): Show CTCTTTCTCTTTCTCTTTCTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG02004.hp2 HG02015.hp1 others(12): Show HG01346.hp2 HG02004.hp2 HG02015.hp1 HG02165.hp1 HG02300.hp2 HG03139.hp2 HG03927.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18960.hp2 NA18963.hp1 NA18975.hp1 NA18980.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0024 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0024 a0001c0001t0028 a0001c0001t0085 a0001c0001t0097 a0001c0002t0003 a0001c0002t0030 a0001c0002t0050 a0001c0013t0007	a0001c0001t0001g0271 a0001c0001t0001g0277 a0001c0001t0001g0283 others(12): Show a0001c0001t0001g0271 a0001c0001t0001g0277 a0001c0001t0001g0283 a0001c0001t0001g0297 a0001c0001t0004g0269 a0001c0001t0004g0296 a0001c0001t0024g0273 a0001c0001t0024g0281 a0001c0001t0028g0318 a0001c0001t0085g0287 a0001c0001t0097g0286 a0001c0002t0003g0244 a0001c0002t0030g0017 a0001c0002t0050g0030 a0001c0013t0007g0011	15	402	0.0373	-22	c.-13 others(33): Show c.-1369_-1348delAAGAGAAAGAGAAAGAGAAAGA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		276		chr6	TogoVar
MDGA2_chr14_46835092_47680605	46933799	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	120	0.0083	-22	c.209 others(43): Show c.2090-13661_2090-13640delATATATATATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	9/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	46959251	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03516.hp2 HG02818.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0011 a0002c0002t0009 a0002c0002t0011	a0002c0002t0009g0104 a0002c0002t0011g0020 a0002c0002t0009g0104 a0002c0002t0011g0020	2	120	0.0167	-22	c.182 others(41): Show c.1820-1630_1820-1609delCACACACACACACACACACACA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	46969930	TTCCATAT others(15): Show TTCCATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp2 HG03195.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0109 a0001c0001t0004g0016 a0001c0001t0001g0109 a0001c0001t0004g0016	2	120	0.0167	-22	c.182 others(43): Show c.1820-12309_1820-12288delTATATATATATATATATATGGA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47053601	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01884.hp1 HG02559.hp2 others(3): Show HG01358.hp2 HG01884.hp1 HG02559.hp2 HG03239.hp1 HG03486.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0008t0005 a0002c0002t0009	a0001c0001t0001g0086 a0001c0001t0002g0071 a0001c0001t0006g0048 others(3): Show a0001c0001t0001g0086 a0001c0001t0002g0071 a0001c0001t0006g0048 a0001c0001t0010g0026 a0001c0008t0005g0103 a0002c0002t0009g0104	6	120	0.0500	-22	c.152 others(41): Show c.1525+7626_1525+7647delTATATATATATATATATATATA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	7/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47053634	TATATATA others(15): Show TATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02257.hp1 HG02451.hp1 others(2): Show HG01099.hp2 HG02257.hp1 HG02451.hp1 HG02976.hp1 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0025 a0001c0001t0026 others(2): Show a0001c0001t0002 a0001c0001t0025 a0001c0001t0026 a0002c0002t0005 a0002c0002t0009	a0001c0001t0002g0106 a0001c0001t0025g0087 a0001c0001t0026g0117 others(2): Show a0001c0001t0002g0106 a0001c0001t0025g0087 a0001c0001t0026g0117 a0002c0002t0005g0074 a0002c0002t0009g0039	5	120	0.0417	-22	c.152 others(41): Show c.1525+7593_1525+7614delGTATATATATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	7/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47053636	TATATATA others(15): Show TATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	120	0.0083	-22	c.152 others(41): Show c.1525+7591_1525+7612delGTGTATATATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	7/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47053648	TATATATA others(15): Show TATATATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0005 a0001c0001t0007g0005	1	120	0.0083	-22	c.152 others(41): Show c.1525+7579_1525+7600delGTGTGTGTGTGTGTGTATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	7/16			chr14	TogoVar
MDH2_chr7_76043106_76072508	76046274	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG02040.hp2 others(15): Show HG00735.hp2 HG00741.hp1 HG02040.hp2 HG02071.hp1 HG02293.hp1 HG02735.hp2 HG03831.hp2 HG04115.hp2 HG04204.hp2 NA18612.hp2 NA18944.hp1 NA18953.hp2 NA18961.hp1 NA18968.hp2 NA18989.hp1 NA18998.hp2 NA19060.hp2 NA19068.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0003 a0002c0002t0002 a0003c0003t0002 a0001c0001t0003 a0002c0002t0002 a0003c0003t0002	a0001c0001t0003g0005 a0001c0001t0003g0012 a0001c0001t0003g0017 others(12): Show a0001c0001t0003g0005 a0001c0001t0003g0012 a0001c0001t0003g0017 a0001c0001t0003g0031 a0001c0001t0003g0034 a0001c0001t0003g0079 a0001c0001t0003g0084 a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0044 a0002c0002t0002g0066 a0002c0002t0002g0114 a0003c0003t0002g0003	18	398	0.0452	-22	c.-18 others(33): Show c.-1886_-1865delTGTGTGTGTGTGTGTGTGTGTG	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1831		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046319	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG04115.hp1 NA18948.hp1 HG03540.hp1 HG04115.hp1 NA18948.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0033 a0001c0001t0003g0069 a0002c0002t0002g0056 a0001c0001t0003g0033 a0001c0001t0003g0069 a0002c0002t0002g0056	3	398	0.0075	-22	c.-18 others(33): Show c.-1841_-1820delGTGTGTGTGTGTGTGTGTGTGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1786		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046321	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0126 a0002c0002t0002g0126	1	398	0.0025	-22	c.-18 others(33): Show c.-1839_-1818delGTGTGTGTGTGTGTGTGTGCGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1784		chr7	TogoVar

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