Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
MCEMP1_chr19_7672090_7684829	7674859	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03654.hp2 HG03704.hp2 others(1): Show HG02258.hp1 HG03654.hp2 HG03704.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0008 a0001c0001t0001g0020	4	448	0.0089	18	c.-22 others(29): Show c.-2262_-2261insTTTTTTTTTTTTTTTTTT	MCEMP1	ENSG00000183019.8	transcript	ENST00000333598.8	protein_coding		2230		chr19	TogoVar
MCF2L2_chr3_183173041_183433619	183228026	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00609.hp1 others(27): Show HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01515.hp2 HG01884.hp2 HG01978.hp2 HG02132.hp2 HG02280.hp1 HG02523.hp2 HG02615.hp2 HG02698.hp1 HG02735.hp2 HG02896.hp1 HG03098.hp1 HG03492.hp2 HG04184.hp1 NA18612.hp2 NA18950.hp2 NA18952.hp2 NA18957.hp2 NA19010.hp1 NA19088.hp1 NA20905.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0013 a0018 a0022 a0023 a0029	a0001c0001 a0002c0002 a0003c0003 others(9): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0007 a0008c0008 a0009c0010 a0013c0013 a0018c0019 a0022c0024 a0023c0022 a0029c0029	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0003 a0004c0004t0012 a0005c0007t0001 a0008c0008t0001 a0009c0010t0013 a0013c0013t0002 a0018c0019t0001 a0022c0024t0003 a0023c0022t0020 a0029c0029t0001	a0001c0001t0001g0010 a0001c0001t0001g0030 a0001c0001t0001g0047 others(27): Show a0001c0001t0001g0010 a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0137 a0001c0001t0002g0003 a0001c0001t0002g0054 a0001c0001t0002g0161 a0002c0002t0001g0001 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0057 a0002c0002t0001g0092 a0003c0003t0003g0083 a0004c0004t0012g0019 a0005c0007t0001g0044 a0005c0007t0001g0069 a0008c0008t0001g0042 a0008c0008t0001g0162 a0009c0010t0013g0070 a0009c0010t0013g0116 a0013c0013t0002g0121 a0018c0019t0001g0032 a0022c0024t0003g0058 a0023c0022t0020g0026 a0029c0029t0001g0115	30	176	0.1705	18	c.211 others(35): Show c.2115+270_2115+271insGTGTGTGTGTGTGTGTGT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	18/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183228028	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02056.hp1 HG04115.hp2 others(2): Show HG01109.hp2 HG02056.hp1 HG04115.hp2 NA18957.hp1 NA18968.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0007 a0001c0001 a0003c0003 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0003c0003t0003 others(2): Show a0001c0001t0001 a0001c0001t0003 a0003c0003t0003 a0005c0007t0001 a0005c0007t0002	a0001c0001t0001g0038 a0001c0001t0003g0139 a0003c0003t0003g0109 others(2): Show a0001c0001t0001g0038 a0001c0001t0003g0139 a0003c0003t0003g0109 a0005c0007t0001g0036 a0005c0007t0002g0132	5	176	0.0284	18	c.211 others(35): Show c.2115+251_2115+268dupGTGTGTGTGTGTGTGTGT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	18/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183269230	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp1 HG00621.hp2 others(16): Show HG00609.hp2 HG00621.hp1 HG00621.hp2 HG02015.hp2 HG02257.hp1 HG02523.hp1 HG02698.hp2 HG03471.hp2 HG03492.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18950.hp2 NA18970.hp1 NA18983.hp2 NA19007.hp2 NA19058.hp1 NA19088.hp2 NA20129.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0008	a0001c0001 a0002c0002 a0004c0004 others(3): Show a0001c0001 a0002c0002 a0004c0004 a0005c0007 a0006c0006 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0004c0004t0001 a0004c0004t0002 a0005c0007t0001 a0006c0006t0003 a0008c0008t0006	a0001c0001t0001g0103 a0001c0001t0002g0066 a0001c0001t0002g0119 others(16): Show a0001c0001t0001g0103 a0001c0001t0002g0066 a0001c0001t0002g0119 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0062 a0002c0002t0001g0071 a0002c0002t0001g0077 a0002c0002t0001g0092 a0002c0002t0001g0097 a0002c0002t0001g0140 a0002c0002t0002g0034 a0004c0004t0001g0060 a0004c0004t0002g0112 a0005c0007t0001g0044 a0006c0006t0003g0043 a0006c0006t0003g0064 a0006c0006t0003g0142 a0008c0008t0006g0016	19	176	0.1080	18	c.186 others(37): Show c.1862+7624_1862+7641dupAAAAAAAAAAAAAAAAAA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	15/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183298765	G G	GCGCGCGC others(11): Show GCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0001 a0014c0012t0001	a0014c0012t0001g0126 a0014c0012t0001g0126	1	176	0.0057	18	c.130 others(37): Show c.1305+1239_1305+1240insTGTGTGTGTGTGCGCGCG	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	11/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183303194	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0021 a0004c0004t0021	a0004c0004t0021g0149 a0004c0004t0021g0149	1	176	0.0057	18	c.111 others(37): Show c.1114-2999_1114-2998insTTTTTTTTTTTTTTTTTT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	10/29			chr3	TogoVar
MCF2L_chr13_112964214_113104742	113031569	A A	AGGGTGGA others(11): Show AGGGTGGAGGGAGAATGCG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0065 a0001c0002t0027g0065	1	116	0.0086	18	c.278 others(35): Show c.278+6824_278+6841dupAATGCGGGGTGGAGGGAG	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113033139	C C	CGTGACGT others(11): Show CGTGACGTGAGTGGCCCCT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0102 a0001c0004t0001g0102	1	116	0.0086	18	c.278 others(35): Show c.278+8386_278+8387insGTGAGTGGCCCCTGTGAC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113033233	A A	ACGTGAGT others(11): Show ACGTGAGTGGCCCCCGTGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0032 a0001c0005t0032	a0001c0005t0032g0106 a0001c0005t0032g0106	1	116	0.0086	18	c.278 others(35): Show c.278+8492_278+8493insGCGTGAGTGGCCCCCGTG	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113033269	G G	GCGTGAGT others(11): Show GCGTGAGTGGCCCCCGTGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0032 a0001c0005t0032	a0001c0005t0032g0106 a0001c0005t0032g0106	1	116	0.0086	18	c.278 others(35): Show c.278+8524_278+8525insCGTGACGTGAGTGGCCCC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113033359	G G	GCGTGAGT others(11): Show GCGTGAGTGGCCCCAGTGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01346.hp1 others(13): Show HG01069.hp2 HG01071.hp2 HG01346.hp1 HG01358.hp1 HG01517.hp2 HG01891.hp2 HG01993.hp2 HG02074.hp2 HG02129.hp2 HG02135.hp2 HG02486.hp2 HG02559.hp2 HG03098.hp2 NA18946.hp1 NA19085.hp1 NA19085.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0002c0017 a0004c0011 a0005c0014	a0001c0001t0001 a0001c0001t0005 a0001c0002t0003 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0020 a0001c0005t0001 a0001c0010t0021 a0002c0017t0001 a0004c0011t0002 a0005c0014t0024	a0001c0001t0001g0024 a0001c0001t0001g0063 a0001c0001t0005g0062 others(13): Show a0001c0001t0001g0024 a0001c0001t0001g0063 a0001c0001t0005g0062 a0001c0002t0003g0014 a0001c0002t0003g0023 a0001c0003t0001g0086 a0001c0003t0001g0092 a0001c0003t0002g0019 a0001c0003t0002g0064 a0001c0003t0002g0078 a0001c0003t0020g0089 a0001c0005t0001g0068 a0001c0010t0021g0015 a0002c0017t0001g0109 a0004c0011t0002g0090 a0005c0014t0024g0100	16	116	0.1379	18	c.278 others(35): Show c.278+8614_278+8615insAGTGACGTGAGTGGCCCC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113033391	C C	CGTGACGT others(11): Show CGTGACGTGAGTGGCCCCT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0047 a0001c0003t0002g0047	1	116	0.0086	18	c.278 others(35): Show c.278+8637_278+8638insCGTGAGTGGCCCCTGTGA	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113033423	C C	CCCCTGTG others(11): Show CCCCTGTGACATTAGTGGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01346.hp1 others(14): Show HG01069.hp2 HG01071.hp2 HG01346.hp1 HG01358.hp1 HG01517.hp2 HG01891.hp2 HG01993.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02135.hp2 HG02486.hp2 HG02559.hp2 HG03098.hp2 NA18946.hp1 NA19085.hp1 NA19085.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0002c0017 a0004c0011 a0005c0014	a0001c0001t0001 a0001c0001t0005 a0001c0002t0003 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0020 a0001c0005t0001 a0001c0010t0021 a0002c0017t0001 a0004c0011t0002 a0005c0014t0024	a0001c0001t0001g0024 a0001c0001t0001g0063 a0001c0001t0005g0062 others(14): Show a0001c0001t0001g0024 a0001c0001t0001g0063 a0001c0001t0005g0062 a0001c0002t0003g0014 a0001c0002t0003g0023 a0001c0003t0001g0086 a0001c0003t0001g0092 a0001c0003t0002g0019 a0001c0003t0002g0047 a0001c0003t0002g0064 a0001c0003t0002g0078 a0001c0003t0020g0089 a0001c0005t0001g0068 a0001c0010t0021g0015 a0002c0017t0001g0109 a0004c0011t0002g0090 a0005c0014t0024g0100	17	116	0.1466	18	c.278 others(35): Show c.278+8668_278+8669insTGTGACATTAGTGGACCC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113040412	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01168.hp2 others(8): Show HG01069.hp2 HG01071.hp2 HG01168.hp2 HG01243.hp2 HG01361.hp2 HG01978.hp1 HG01993.hp1 HG02300.hp2 HG03098.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0019 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0019 a0001c0002t0001 a0001c0002t0003 a0001c0006t0009 a0001c0008t0003	a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0063 others(8): Show a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0006g0108 a0001c0001t0019g0107 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0003g0014 a0001c0002t0003g0023 a0001c0006t0009g0028 a0001c0008t0003g0044	11	116	0.0948	18	c.279 others(35): Show c.279-4851_279-4834dupGTGTGTGTGTGTGTGTGT	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113040436	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0025 a0001c0005t0025	a0001c0005t0025g0016 a0001c0005t0025g0016	1	116	0.0086	18	c.279 others(35): Show c.279-4834_279-4833insGTGTGTGTGTGTGTGTTT	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2_chrX_139576770_139713167	139709469	T T	TATACATA others(11): Show TATACATAGCATATATAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(14): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00438.hp1 HG00735.hp2 HG00738.hp1 HG02486.hp1 HG02523.hp1 HG02683.hp2 HG03041.hp2 HG03654.hp1 NA18747.hp1 NA18944.hp1 NA18961.hp1 NA18974.hp1 NA18977.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0019 others(14): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0058 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0118 a0001c0001t0001g0187 a0001c0001t0001g0245 a0001c0002t0001g0100 a0001c0002t0001g0128 a0001c0003t0001g0051 a0001c0003t0001g0061 a0001c0003t0001g0062	17	249	0.0683	18	c.-14 others(29): Show c.-1409_-1408insGCTATATATGCTATGTAT	MCF2	ENSG00000101977.22	transcript	ENST00000519895.6	protein_coding		1303		chrX	TogoVar
MCF2_chrX_139576770_139713167	139709469	T T	TATACATA others(11): Show TATACATAGTATATATAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp2 others(94): Show HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01928.hp1 HG01934.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02129.hp1 HG02135.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03453.hp1 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03831.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18969.hp1 NA18973.hp1 NA18973.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19010.hp2 NA19062.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19077.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA20752.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0003t0001 a0001c0010t0001 a0003c0007t0001	a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0028 others(94): Show a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0213 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0002g0101 a0001c0001t0007g0068 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0093 a0001c0002t0001g0099 a0001c0003t0001g0025 a0001c0003t0001g0037 a0001c0003t0001g0047 a0001c0003t0001g0050 a0001c0003t0001g0064 a0001c0003t0001g0077 a0001c0003t0001g0080 a0001c0003t0001g0105 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0114 a0001c0003t0001g0116 a0001c0003t0001g0137 a0001c0003t0001g0246 a0001c0010t0001g0125 a0003c0007t0001g0026	97	249	0.3896	18	c.-14 others(29): Show c.-1409_-1408insGCTATATATACTATGTAT	MCF2	ENSG00000101977.22	transcript	ENST00000519895.6	protein_coding		1303		chrX	TogoVar
MCF2_chrX_139576770_139713167	139709615	C C	CATATATA others(11): Show CATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG02004.hp1 HG02293.hp1 others(5): Show HG00140.hp1 HG02004.hp1 HG02293.hp1 HG03710.hp1 NA18940.hp1 NA18943.hp1 NA18950.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0076 a0001c0001t0001g0130 a0001c0001t0001g0216 others(5): Show a0001c0001t0001g0076 a0001c0001t0001g0130 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0002t0001g0057 a0001c0003t0001g0105	8	249	0.0321	18	c.-15 others(29): Show c.-1555_-1554insATATATATATATATATAT	MCF2	ENSG00000101977.22	transcript	ENST00000519895.6	protein_coding		1449		chrX	TogoVar
MCF2_chrX_139576770_139713167	139710410	G G	GTATATAT others(11): Show GTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG02717.hp1 HG02735.hp1 others(1): Show HG00741.hp1 HG02717.hp1 HG02735.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0065 others(1): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0065 a0001c0003t0001g0037	4	249	0.0161	18	c.-23 others(29): Show c.-2350_-2349insTATATATATATATATATA	MCF2	ENSG00000101977.22	transcript	ENST00000519895.6	protein_coding		2244		chrX	TogoVar
MCHR2_chr6_99913519_99999223	99999062	T T	TTGGAATG others(11): Show TTGGAATGAGACTACCTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	316	0.0032	18	c.-51 others(29): Show c.-5155_-5154insTAAGGTAGTCTCATTCCA	MCHR2	ENSG00000152034.11	transcript	ENST00000281806.7	protein_coding		4840		chr6	TogoVar
MCM10_chr10_13156558_13216110	13166688	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02258.hp1 others(6): Show HG01891.hp2 HG02109.hp2 HG02258.hp1 HG02572.hp1 HG02615.hp1 HG03471.hp1 HG03540.hp1 NA18906.hp1 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0008 a0005c0006 a0001c0001 a0001c0008 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0008t0007 a0005c0006t0006 a0005c0006t0007 a0005c0006t0017	a0001c0001t0001g0032 a0001c0001t0003g0146 a0001c0001t0007g0204 others(6): Show a0001c0001t0001g0032 a0001c0001t0003g0146 a0001c0001t0007g0204 a0001c0008t0007g0028 a0001c0008t0007g0062 a0001c0008t0007g0264 a0005c0006t0006g0374 a0005c0006t0007g0152 a0005c0006t0017g0203	9	432	0.0208	18	c.7+2 others(31): Show c.7+2480_7+2481insATATATATATATATATGT	MCM10	ENSG00000065328.17	transcript	ENST00000378714.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCM3AP_chr21_46230133_46290611	46256198	A A	AGCATGGC others(11): Show AGCATGGCCAGGAATGCAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0019 a0019	a0019c0021 a0019c0021	a0019c0021t0001 a0019c0021t0001	a0019c0021t0001g0072 a0019c0021t0001g0072	1	360	0.0028	18	c.393 others(35): Show c.3932+573_3932+590dupCTGCATTCCTGGCCATGC	MCM3AP	ENSG00000160294.11	transcript	ENST00000291688.6	protein_coding	17/27			chr21	TogoVar
MCM3AP_chr21_46230133_46290611	46258737	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01123.hp2 HG01516.hp1 others(11): Show HG00609.hp2 HG01123.hp2 HG01516.hp1 HG01928.hp1 HG02145.hp1 HG02622.hp1 HG02647.hp1 HG03209.hp1 HG03831.hp1 HG03927.hp1 HG04199.hp2 NA18999.hp1 NA19077.hp2 NA20905.hp1	a0001 a0021 a0001 a0021	a0001c0002 a0001c0005 a0001c0027 others(1): Show a0001c0002 a0001c0005 a0001c0027 a0021c0023	a0001c0002t0002 a0001c0005t0002 a0001c0027t0002 others(1): Show a0001c0002t0002 a0001c0005t0002 a0001c0027t0002 a0021c0023t0002	a0001c0002t0002g0243 a0001c0002t0002g0245 a0001c0002t0002g0259 others(11): Show a0001c0002t0002g0243 a0001c0002t0002g0245 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0288 a0001c0002t0002g0294 a0001c0005t0002g0316 a0001c0005t0002g0317 a0001c0005t0002g0319 a0001c0027t0002g0300 a0021c0023t0002g0314	14	360	0.0389	18	c.373 others(35): Show c.3734+184_3734+201dupCACACACACACACACACA	MCM3AP	ENSG00000160294.11	transcript	ENST00000291688.6	protein_coding	16/27			chr21	TogoVar
MCM6_chr2_135834626_135881443	135835976	G G	GTATATAA others(11): Show GTATATAAATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG06807.hp2 HG02109.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0013 a0001c0002t0009 a0001c0002t0013	a0001c0002t0009g0045 a0001c0002t0013g0194 a0001c0002t0009g0045 a0001c0002t0013g0194	2	394	0.0051	18	c.48 others(29): Show c.4858_*4859insTATATATATATTTATATA	MCM6	ENSG00000076003.5	transcript	ENST00000264156.3	protein_coding		3649		chr2	TogoVar
MCM6_chr2_135834626_135881443	135852533	C C	CCAAAACT others(11): Show CCAAAACTCTTCTCCCATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0180 a0001c0001t0005g0180	1	394	0.0025	18	c.175 others(35): Show c.1755+236_1755+253dupTATGGGAGAAGAGTTTTG	MCM6	ENSG00000076003.5	transcript	ENST00000264156.3	protein_coding	12/16			chr2	TogoVar
MCM7_chr7_100087728_100106397	100099418	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0055 a0001c0004t0001g0055	1	422	0.0024	18	c.277 others(31): Show c.277-33_277-16dupTTTTTTTTTTTTTTTTTT	MCM7	ENSG00000166508.19	transcript	ENST00000303887.10	protein_coding	3/14			chr7	TogoVar
MCOLN1_chr19_7517624_7539009	7518557	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG00621.hp2 others(4): Show HG00423.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00741.hp2 HG03942.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0038 a0001c0013t0001g0021	7	414	0.0169	18	c.-41 others(29): Show c.-4194_-4193insAAAGAAAGAAAGAAAGAA	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		4066		chr19	TogoVar
MCOLN1_chr19_7517624_7539009	7518557	G G	GAGAGAAA others(11): Show GAGAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01243.hp1 HG01243.hp2 others(28): Show HG00639.hp1 HG01243.hp1 HG01243.hp2 HG01358.hp1 HG02074.hp1 HG02129.hp2 HG02698.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02970.hp1 HG03041.hp2 HG03516.hp2 HG03831.hp1 HG03834.hp1 NA18942.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18962.hp1 NA18966.hp1 NA18983.hp2 NA18985.hp2 NA19007.hp2 NA19060.hp1 NA19065.hp1 NA19076.hp2 NA19079.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0011 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0002t0001g0003 a0001c0002t0001g0013 a0001c0002t0001g0056 a0001c0002t0001g0064 a0001c0003t0001g0027	31	414	0.0749	18	c.-41 others(29): Show c.-4194_-4193insAGAGAAAGAAAGAAAGAA	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		4066		chr19	TogoVar
MCOLN1_chr19_7517624_7539009	7518557	G G	GAGAGAGA others(11): Show GAGAGAGAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	414	0.0024	18	c.-41 others(29): Show c.-4194_-4193insAGAGAGAGAAAGAAAGAA	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		4066		chr19	TogoVar
MCOLN1_chr19_7517624_7539009	7518599	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0013 a0013	a0013c0007 a0013c0007	a0013c0007t0001 a0013c0007t0001	a0013c0007t0001g0020 a0013c0007t0001g0020	1	414	0.0024	18	c.-41 others(29): Show c.-4152_-4151insAAAGAAAGAAAGAAAGAA	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		4024		chr19	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01169.hp1 others(3): Show HG00642.hp1 HG00741.hp2 HG01169.hp1 HG01934.hp1 HG01934.hp2 HG02630.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0006c0006t0003	a0001c0001t0001g0067 a0001c0001t0002g0203 a0001c0001t0002g0257 others(3): Show a0001c0001t0001g0067 a0001c0001t0002g0203 a0001c0001t0002g0257 a0001c0001t0003g0202 a0001c0001t0017g0158 a0006c0006t0003g0327	6	350	0.0171	18	c.42 others(29): Show c.4246_*4247insTATATATATATATACACA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3144		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922462	A A	ATATATAT others(11): Show ATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG02647.hp2 HG01993.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0026 a0001c0001t0021 a0001c0001t0026	a0001c0001t0021g0088 a0001c0001t0026g0085 a0001c0001t0021g0088 a0001c0001t0026g0085	2	350	0.0057	18	c.42 others(29): Show c.4222_*4223insAAAATATATATATATATA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3120		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84996393	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03516.hp2 HG01099.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0054 a0001c0001t0001g0055	2	350	0.0057	18	c.77+ others(31): Show c.77+385_77+402dupATATATATATATATATAT	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding	1/13			chr1	TogoVar
MCPH1_chr8_6401627_6653508	6559230	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18963.hp2 HG02129.hp2 NA18963.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0005 a0005c0004t0001 a0001c0001t0005 a0005c0004t0001	a0001c0001t0005g0026 a0005c0004t0001g0085 a0001c0001t0005g0026 a0005c0004t0001g0085	2	262	0.0076	18	c.221 others(39): Show c.2214+59315_2214+59332dupCACACACACACACACACA	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCPH1_chr8_6401627_6653508	6562552	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02738.hp1 HG02896.hp2 others(5): Show HG02040.hp1 HG02738.hp1 HG02896.hp2 HG02965.hp1 HG03195.hp1 HG03209.hp2 HG03688.hp1 NA18989.hp1	a0001 a0003 a0009 others(4): Show a0001 a0003 a0009 a0010 a0017 a0018 a0029	a0001c0001 a0003c0005 a0003c0016 others(5): Show a0001c0001 a0003c0005 a0003c0016 a0009c0069 a0010c0014 a0017c0074 a0018c0084 a0029c0058	a0001c0001t0005 a0003c0005t0069 a0003c0016t0017 others(5): Show a0001c0001t0005 a0003c0005t0069 a0003c0016t0017 a0009c0069t0051 a0010c0014t0019 a0017c0074t0004 a0018c0084t0005 a0029c0058t0025	a0001c0001t0005g0024 a0003c0005t0069g0143 a0003c0016t0017g0137 others(5): Show a0001c0001t0005g0024 a0003c0005t0069g0143 a0003c0016t0017g0137 a0009c0069t0051g0238 a0010c0014t0019g0232 a0017c0074t0004g0112 a0018c0084t0005g0028 a0029c0058t0025g0224	8	262	0.0305	18	c.221 others(39): Show c.2215-58900_2215-58883dupTTTTTTTTTTTTTTTTTT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCPH1_chr8_6401627_6653508	6576498	T T	TCCCTTCC others(11): Show TCCCTTCCCCTTCCCCTTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19007.hp2 NA19043.hp1 HG02622.hp1 NA19007.hp2 NA19043.hp1	a0002 a0008 a0009 a0002 a0008 a0009	a0002c0002 a0008c0052 a0009c0070 a0002c0002 a0008c0052 a0009c0070	a0002c0002t0002 a0008c0052t0043 a0009c0070t0029 a0002c0002t0002 a0008c0052t0043 a0009c0070t0029	a0002c0002t0002g0182 a0008c0052t0043g0240 a0009c0070t0029g0031 a0002c0002t0002g0182 a0008c0052t0043g0240 a0009c0070t0029g0031	3	262	0.0115	18	c.221 others(39): Show c.2215-44952_2215-44935dupTTCCCCTTCCCCTTCCCC	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCPH1_chr8_6401627_6653508	6576505	C C	CCCTTCCC others(11): Show CCCTTCCCCTTCCCCTTCA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0016 a0002c0034t0016	a0002c0034t0016g0164 a0002c0034t0016g0164	1	262	0.0038	18	c.221 others(39): Show c.2215-44935_2215-44934insTTCACCTTCCCCTTCCCC	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCRIP2_chr16_636828_653474	637257	T T	TGCGGCAG others(11): Show TGCGGCAGGGGCGGCAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01891.hp1 HG02040.hp2 others(17): Show HG01361.hp1 HG01891.hp1 HG02040.hp2 HG02145.hp2 HG02895.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03490.hp1 HG03491.hp1 HG03579.hp1 HG03688.hp1 NA18953.hp2 NA18986.hp2 NA19089.hp1 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0071 a0001c0001t0002g0014 a0001c0001t0002g0039 a0001c0001t0003g0002 a0001c0001t0004g0023 a0001c0001t0004g0032	20	420	0.0476	18	c.-47 others(29): Show c.-4735_-4734insGCGGCAGGGGCGGCAGGG	MCRIP2	ENSG00000172366.20	transcript	ENST00000307650.9	protein_coding		4570		chr16	TogoVar
MCRIP2_chr16_636828_653474	637279	G G	GCAGGGGC others(11): Show GCAGGGGCGGCAGGGGCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02630.hp1 HG02280.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0051 a0001c0001t0004g0077 a0001c0001t0002g0051 a0001c0001t0004g0077	2	420	0.0048	18	c.-47 others(29): Show c.-4713_-4712insCAGGGGCGGCAGGGGCGA	MCRIP2	ENSG00000172366.20	transcript	ENST00000307650.9	protein_coding		4548		chr16	TogoVar
MCTP1_chr5_94698690_95290094	94752108	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG02622.hp2 others(2): Show HG00735.hp1 HG00735.hp2 HG02622.hp2 HG03710.hp2 NA18612.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0027 a0001c0002t0001 a0001c0002t0007 others(2): Show a0001c0001t0027 a0001c0002t0001 a0001c0002t0007 a0001c0003t0011 a0002c0005t0028	a0001c0001t0027g0036 a0001c0002t0001g0067 a0001c0002t0007g0088 others(2): Show a0001c0001t0027g0036 a0001c0002t0001g0067 a0001c0002t0007g0088 a0001c0003t0011g0086 a0002c0005t0028g0056	5	98	0.0510	18	c.261 others(39): Show c.2610+26984_2610+27001dupATATATATATATATATAT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	19/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94791500	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0053 a0001c0014t0001g0053	1	98	0.0102	18	c.255 others(37): Show c.2556+7495_2556+7512dupGTGTGTGTGTGTGTGTGT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	18/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94888699	T T	TTAAAAAG others(11): Show TTAAAAAGCAGAGATACTA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp2 NA18970.hp1 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0003 a0001c0002t0001 a0001c0003t0003	a0001c0002t0001g0075 a0001c0003t0003g0038 a0001c0002t0001g0075 a0001c0003t0003g0038	2	98	0.0204	18	c.193 others(35): Show c.1933+162_1933+179dupTAGTATCTCTGCTTTTTA	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	12/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94947577	T T	TATATATA others(11): Show TATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0053 a0001c0014t0001g0053	1	98	0.0102	18	c.982 others(35): Show c.982-5151_982-5150insCTCTCTATATATATATAT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	3/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94947577	T T	TATATATA others(11): Show TATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0079 a0001c0002t0006g0079	1	98	0.0102	18	c.982 others(35): Show c.982-5151_982-5150insCTCTATATATATATATAT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	3/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94982884	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0087 a0001c0004t0001g0087	1	98	0.0102	18	c.839 others(37): Show c.839-29541_839-29524dupTTTTTTTTTTTTTTTTTT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	2/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	95024648	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0007 a0001c0003t0021g0007	1	98	0.0102	18	c.721 others(35): Show c.721-7182_721-7165dupGTGTGTGTGTGTGTGTGT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	95058658	T T	TGGAAGAG others(11): Show TGGAAGAGGTATGGATAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02809.hp1 HG03130.hp2 others(1): Show HG02055.hp2 HG02809.hp1 HG03130.hp2 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0007 others(1): Show a0001c0002 a0001c0006 a0001c0007 a0001c0010	a0001c0002t0001 a0001c0006t0024 a0001c0007t0011 others(1): Show a0001c0002t0001 a0001c0006t0024 a0001c0007t0011 a0001c0010t0002	a0001c0002t0001g0031 a0001c0006t0024g0016 a0001c0007t0011g0070 others(1): Show a0001c0002t0001g0031 a0001c0006t0024g0016 a0001c0007t0011g0070 a0001c0010t0002g0098	4	98	0.0408	18	c.721 others(37): Show c.721-41192_721-41175dupTTTATCCATACCTCTTCC	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	95257796	T T	TACACACA others(11): Show TACACACATACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(41): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00735.hp1 HG01071.hp1 HG01071.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02615.hp1 HG02622.hp1 HG03098.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03492.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 NA18522.hp1 NA18612.hp2 NA18939.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA19009.hp2 NA19043.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0010 a0001c0014 a0002c0005	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 others(26): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0012 a0001c0002t0036 a0001c0003t0002 a0001c0003t0003 a0001c0003t0011 a0001c0003t0029 a0001c0003t0032 a0001c0003t0033 a0001c0004t0001 a0001c0004t0006 a0001c0004t0008 a0001c0004t0031 a0001c0004t0035 a0001c0006t0013 a0001c0006t0014 a0001c0007t0030 a0001c0010t0002 a0001c0014t0001 a0002c0005t0005	a0001c0001t0003g0078 a0001c0001t0003g0082 a0001c0001t0005g0024 others(41): Show a0001c0001t0003g0078 a0001c0001t0003g0082 a0001c0001t0005g0024 a0001c0001t0005g0046 a0001c0001t0010g0057 a0001c0001t0014g0091 a0001c0001t0017g0001 a0001c0001t0020g0004 a0001c0002t0001g0042 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0095 a0001c0002t0006g0079 a0001c0002t0006g0085 a0001c0002t0007g0044 a0001c0002t0007g0062 a0001c0002t0007g0088 a0001c0002t0008g0068 a0001c0002t0012g0071 a0001c0002t0036g0083 a0001c0003t0002g0022 a0001c0003t0002g0092 a0001c0003t0003g0038 a0001c0003t0003g0069 a0001c0003t0011g0086 a0001c0003t0029g0043 a0001c0003t0032g0035 a0001c0003t0033g0081 a0001c0004t0001g0073 a0001c0004t0001g0074 a0001c0004t0001g0076 a0001c0004t0001g0087 a0001c0004t0006g0041 a0001c0004t0008g0080 a0001c0004t0031g0058 a0001c0004t0035g0065 a0001c0006t0013g0045 a0001c0006t0014g0054 a0001c0007t0030g0090 a0001c0010t0002g0097 a0001c0014t0001g0053 a0002c0005t0005g0060	44	98	0.4490	18	c.720 others(37): Show c.720+26059_720+26060insGTGTGTGTGTATGTGTGT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCTP2_chr15_94226561_94488952	94242950	C C	CACATATA others(11): Show CACATATACACGTGTATCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03486.hp2 HG00735.hp2 HG03486.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0014 a0001c0001 a0005c0014	a0001c0001t0001 a0005c0014t0045 a0001c0001t0001 a0005c0014t0045	a0001c0001t0001g0177 a0005c0014t0045g0176 a0001c0001t0001g0177 a0005c0014t0045g0176	2	276	0.0073	18	c.-66 others(37): Show c.-66+11302_-66+11303insCTACATATACACGTGTAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94267869	C C	CTTTCTTT others(11): Show CTTTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03209.hp1 HG02109.hp1 HG03209.hp1	a0001 a0004 a0001 a0004	a0001c0013 a0004c0008 a0001c0013 a0004c0008	a0001c0013t0037 a0004c0008t0022 a0001c0013t0037 a0004c0008t0022	a0001c0013t0037g0224 a0004c0008t0022g0053 a0001c0013t0037g0224 a0004c0008t0022g0053	2	276	0.0073	18	c.-65 others(37): Show c.-65-30329_-65-30328insCTTTTTTTTTTTTTTTTT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar

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