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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MBD3L4_chr19_7032749_7045179	7035882	ATATAATA others(26): Show ATATAATATAATTCTATAACATATAAATTATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG02080.hp2 others(7): Show HG00280.hp2 HG00597.hp2 HG02080.hp2 HG02717.hp2 HG02976.hp2 HG03471.hp2 HG03490.hp2 HG06807.hp2 NA18973.hp2 NA18994.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0013 a0005c0009 a0001c0001 a0001c0013 a0005c0009	a0001c0001t0002 a0001c0013t0002 a0005c0009t0001 a0001c0001t0002 a0001c0013t0002 a0005c0009t0001	a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0013t0002g0022 others(1): Show a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0013t0002g0022 a0005c0009t0001g0020	10	262	0.0382	-33	c.19 others(44): Show c.1946_*1978delAATATAATTTATATGTTATAGAATTATATTATA		MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding					1866		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035954	ATATAATA others(26): Show ATATAATATAATTATATAACATATAAATTATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	262	0.0038	-33	c.18 others(44): Show c.1874_*1906delAATATAATTTATATGTTATATAATTATATTATA		MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding					1794		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035954	ATATAATA others(26): Show ATATAATATAATTATATAACATATAAATTATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	249	0.0040	-33	c.30 others(44): Show c.3061_*3093delTATAATATAATTATATAACATATAAATTATATT		MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding					2944		chr19	TogoVar
MBLAC1_chr7_100121967_100133495	100131261	TTTCTTTT others(26): Show TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	390	0.0026	-33	c.30 others(44): Show c.3066_*3098delTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC		MBLAC1	ENSG00000214309.5	transcript	ENST00000398075.4	protein_coding					2767		chr7	TogoVar
MBNL1_chr3_152263929_152470780	152467042	TTCACTGA others(26): Show TTCACTGAGACATACTTTTGAATGCCTGTATGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	338	0.0030	-33	c.46 others(44): Show c.4677_*4709delTCACTGAGACATACTTTTGAATGCCTGTATGAA		MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding					1263		chr3	TogoVar
MBP_chr18_76973833_77137783	77028925	TCCAGACT others(26): Show TCCAGACTGGGCAGCCAGGCAGAGGGGCTCCATC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp2 others(56): Show HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00621.hp2 HG00738.hp1 HG01074.hp2 HG01175.hp2 HG01346.hp1 HG01516.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02109.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp2 HG02922.hp1 HG03017.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03491.hp1 HG03688.hp1 HG04199.hp1 NA18747.hp1 NA18906.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp2 NA18955.hp2 NA18962.hp2 NA18963.hp2 NA18967.hp1 NA18973.hp1 NA18979.hp1 NA18982.hp1 NA18993.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19006.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19065.hp2 NA19074.hp2 NA19082.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0027 a0001c0001t0031 a0001c0001t0035 a0001c0001t0038 a0001c0001t0039 a0001c0001t0045 a0001c0002t0001 a0001c0002t0002 a0003c0004t0013	a0001c0001t0001g0007 a0001c0001t0001g0039 a0001c0001t0001g0060 others(56): Show a0001c0001t0001g0007 a0001c0001t0001g0039 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0081 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0149 a0001c0001t0001g0167 a0001c0001t0001g0196 a0001c0001t0002g0330 a0001c0001t0003g0074 a0001c0001t0003g0124 a0001c0001t0003g0131 a0001c0001t0003g0161 a0001c0001t0003g0169 a0001c0001t0003g0182 a0001c0001t0004g0023 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0043 a0001c0001t0004g0053 a0001c0001t0004g0108 a0001c0001t0004g0168 a0001c0001t0005g0255 a0001c0001t0005g0298 a0001c0001t0005g0319 a0001c0001t0006g0266 a0001c0001t0006g0295 a0001c0001t0006g0303 a0001c0001t0006g0310 a0001c0001t0006g0326 a0001c0001t0007g0362 a0001c0001t0008g0334 a0001c0001t0008g0353 a0001c0001t0009g0041 a0001c0001t0009g0065 a0001c0001t0010g0175 a0001c0001t0010g0209 a0001c0001t0011g0148 a0001c0001t0011g0165 a0001c0001t0011g0206 a0001c0001t0014g0254 a0001c0001t0014g0268 a0001c0001t0015g0368 a0001c0001t0018g0222 a0001c0001t0020g0301 a0001c0001t0022g0013 a0001c0001t0022g0204 a0001c0001t0027g0385 a0001c0001t0031g0113 a0001c0001t0035g0203 a0001c0001t0038g0059 a0001c0001t0039g0105 a0001c0001t0045g0304 a0001c0002t0001g0048 a0001c0002t0001g0136 a0001c0002t0002g0257 a0003c0004t0013g0138	59	396	0.1490	-33	c.140 others(52): Show c.140-11690_140-11658delGATGGAGCCCCTCTGCCTGGCTGCCC AGTCTGG		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8						chr18	TogoVar
MB_chr22_35601764_35622329	35611807	CGGTCCTT others(26): Show CGGTCCTTCCTGCCCACCTCCAACTTTAGACCTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18981.hp2 HG02055.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0035 a0001c0002t0004g0065 a0001c0001t0001g0035 a0001c0002t0004g0065	2	376	0.0053	-33	c.96- others(46): Show c.96-734_96-702delAAGGTCTAAAGTTGGAGGTGGGCAGGAAGGAC C		MB	ENSG00000198125.13	transcript	ENST00000397326.7	protein_coding	1/2						chr22	TogoVar
MCC_chr5_113017106_113493453	113106109	GTTCACTA others(26): Show GTTCACTATGCCCCATTCACACTCCTTCCCCTCA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01496.hp1 HG01981.hp1 others(25): Show HG01167.hp1 HG01496.hp1 HG01981.hp1 HG02040.hp1 HG02040.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02976.hp2 HG03209.hp1 HG03453.hp2 HG03516.hp1 NA18522.hp2 NA18945.hp2 NA18947.hp2 NA18955.hp1 NA18970.hp1 NA18977.hp1 NA18983.hp2 NA18998.hp1 NA19030.hp2 NA19043.hp1 NA19074.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0001c0007 others(10): Show a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0018 a0001c0021 a0001c0041 a0002c0001 a0003c0006 a0003c0014 a0003c0015	a0001c0003t0019 a0001c0004t0002 a0001c0007t0022 others(16): Show a0001c0003t0019 a0001c0004t0002 a0001c0007t0022 a0001c0007t0034 a0001c0007t0038 a0001c0008t0004 a0001c0008t0017 a0001c0008t0031 a0001c0009t0008 a0001c0009t0011 a0001c0010t0005 a0001c0010t0028 a0001c0018t0007 a0001c0021t0008 a0001c0041t0045 a0002c0001t0002 a0003c0006t0002 a0003c0014t0005 a0003c0015t0036	a0001c0003t0019g0077 a0001c0004t0002g0098 a0001c0007t0022g0108 others(25): Show a0001c0003t0019g0077 a0001c0004t0002g0098 a0001c0007t0022g0108 a0001c0007t0034g0073 a0001c0007t0038g0076 a0001c0008t0004g0066 a0001c0008t0017g0050 a0001c0008t0031g0034 a0001c0009t0008g0072 a0001c0009t0011g0070 a0001c0010t0005g0033 a0001c0010t0005g0036 a0001c0010t0028g0035 a0001c0018t0007g0085 a0001c0021t0008g0058 a0001c0041t0045g0067 a0002c0001t0002g0121 a0002c0001t0002g0127 a0002c0001t0002g0144 a0002c0001t0002g0145 a0002c0001t0002g0146 a0002c0001t0002g0150 a0003c0006t0002g0013 a0003c0006t0002g0015 a0003c0006t0002g0016 a0003c0006t0002g0017 a0003c0014t0005g0026 a0003c0015t0036g0018	28	160	0.1750	-33	c.102 others(52): Show c.1028-1787_1028-1755delTGAGGGGAAGGAGTGTGAATGGGGCA TAGTGAA		MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	6/18						chr5	TogoVar
MCC_chr5_113017106_113493453	113299292	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02723.hp2 HG03130.hp2 HG00741.hp2 HG02723.hp2 HG03130.hp2	a0001 a0001	a0001c0011 a0001c0027 a0001c0050 a0001c0011 a0001c0027 a0001c0050	a0001c0011t0004 a0001c0027t0001 a0001c0050t0005 a0001c0011t0004 a0001c0027t0001 a0001c0050t0005	a0001c0011t0004g0054 a0001c0027t0001g0071 a0001c0050t0005g0106 a0001c0011t0004g0054 a0001c0027t0001g0071 a0001c0050t0005g0106	3	160	0.0188	-33	c.627 others(52): Show c.627+41194_627+41226delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18						chr5	TogoVar
MCF2L2_chr3_183173041_183433619	183216566	ATATATAT others(26): Show ATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0021 a0004c0004t0021	a0004c0004t0021g0149 a0004c0004t0021g0149	1	176	0.0057	-33	c.237 others(50): Show c.2371-505_2371-473delAAAAAAAAAAAAAAAAAAATATATATAT ATATA		MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	21/29						chr3	TogoVar
MCM6_chr2_135834626_135881443	135862268	AAATAATA others(26): Show AAATAATAAAATTTGTATAAAATTTTATACAAAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0187 a0001c0002t0007g0187	1	394	0.0025	-33	c.122 others(50): Show c.1220+306_1220+338delATTTGTATAAAATTTTATACAAATTTTA TTATT		MCM6	ENSG00000076003.5	transcript	ENST00000264156.3	protein_coding	8/16						chr2	TogoVar
MCRIP1_chr17_81817361_81838291	81818704	GATAGTGA others(26): Show GATAGTGACTTGTGTGTGCACGCCACTACACAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 NA21309.hp2 HG03041.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0054 a0001c0001t0002g0023 a0001c0001t0002g0054	2	366	0.0055	-33	c.45 others(44): Show c.4510_*4542delGCTGTGTAGTGGCGTGCACACACAAGTCACTAT		MCRIP1	ENSG00000225663.8	transcript	ENST00000455127.7	protein_coding					3656		chr17	TogoVar
MDH2_chr7_76043106_76072508	76065358	CCTGAGTC others(26): Show CCTGAGTCTTCAGCAAACAGAAACCCTTAGGTCT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0064 a0002c0002t0002g0064	1	398	0.0025	-33	c.885 others(48): Show c.885+406_885+438delCTGAGTCTTCAGCAAACAGAAACCCTTAGG TCT		MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding	8/8						chr7	TogoVar
ME1_chr6_83205402_83436051	83243621	AATCTATT others(26): Show AATCTATTATAATTACATTATATCGATATAATCT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0207 a0001c0002t0001g0207	1	272	0.0037	-33	c.815 others(50): Show c.815-4018_815-3986delAGATTATATCGATATAATGTAATTATAA TAGAT		ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	7/13						chr6	TogoVar
ME2_chr18_50874118_50959257	50945328	GCCTGGTC others(26): Show GCCTGGTCTCATAAACTCCTGACGTCAGGTGATC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0146 a0001c0001t0146	a0001c0001t0146g0302 a0001c0001t0146g0302	1	342	0.0029	-33	c.158 others(52): Show c.1588-1687_1588-1655delCTGGTCTCATAAACTCCTGACGTCAG GTGATCC		ME2	ENSG00000082212.13	transcript	ENST00000321341.11	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr18	TogoVar
ME3_chr11_86436108_86677616	86674743	ACTGTGTT others(26): Show ACTGTGTTGTTTAGGCTGTTCTTGAACTCCTGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0011 a0002c0007t0001g0011	1	320	0.0031	-33	c.-24 others(44): Show c.-2467_-2435delCCCAGGAGTTCAAGAACAGCCTAAACAACACAG		ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding					2128		chr11	TogoVar
MEAK7_chr16_84471355_84509659	84509375	GGACCCAG others(26): Show GGACCCAGGGTGAACCAGGACCCAGGGTGACCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0435 a0001c0001t0053g0435	1	468	0.0021	-33	c.-48 others(44): Show c.-4833_-4801delTGGGTCACCCTGGGTCCTGGTTCACCCTGGGTC		MEAK7	ENSG00000140950.16	transcript	ENST00000343629.11	protein_coding					4717		chr16	TogoVar
MECOM_chr3_169078507_169668712	169378481	GAGAGAGA others(26): Show GAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0039 a0002c0002t0039	a0002c0002t0039g0093 a0002c0002t0039g0093	1	160	0.0063	-33	c.375 others(50): Show c.375+2673_375+2705delTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169378487	GAGAAAGA others(26): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0079 a0001c0001t0010g0079	1	160	0.0063	-33	c.375 others(50): Show c.375+2667_375+2699delTTCTTTTCTTTCTTTCTTTCTTTCTTTC TTTCT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16						chr3	TogoVar
MED13L_chr12_115953576_116282693	116031717	AAAGAAAA others(26): Show AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0253 a0001c0003t0016g0253	1	254	0.0039	-33	c.480 others(50): Show c.480-9149_480-9117delCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTT		MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30						chr12	TogoVar
MED13_chr17_61937605_62070278	62062578	AACACACA others(26): Show AACACACACACACACACACACACCACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0288 a0001c0002t0001g0288	1	326	0.0031	-33	c.301 others(48): Show c.301+456_301+488delGTGTGTGTGTGGTGTGTGTGTGTGTGTGTG TGT		MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	2/29						chr17	TogoVar
MED16_chr19_862963_898187	870593	TGAATGGA others(26): Show TGAATGGAAGGGCTGGGTGCCCGTGTTGGGGGTG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0001 a0007c0019t0001	a0007c0019t0001g0017 a0007c0019t0001g0017	1	56	0.0179	-33	c.231 others(50): Show c.2315+411_2315+443delCACCCCCAACACGGGCACCCAGCCCTTC CATTC		MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	13/15						chr19	TogoVar
MED25_chr19_49813289_49841979	49837653	CGGGGGCC others(26): Show CGGGGGCCAGGCCTACGTGATGGTAGGTGGTGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0155 a0001c0003t0001g0155	1	406	0.0025	-33	c.71 others(42): Show c.710_*742delGGGGGCCAGGCCTACGTGATGGTAGGTGGTGGG		MED25	ENSG00000104973.19	transcript	ENST00000312865.10	protein_coding					675		chr19	TogoVar
MED27_chr9_131855112_132084867	132084813	CCCCTGGC others(26): Show CCCCTGGCCTTGGTGGCCTTTTTGTCACCTTTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	274	0.0037	-33	c.-50 others(44): Show c.-5002_-4970delCCAAAGGTGACAAAAAGGCCACCAAGGCCAGGG		MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding					4947		chr9	TogoVar
MED8_chr1_43378917_43394800	43391341	CACAGCTA others(26): Show CACAGCTATTAAGTATTAGAGTCAGGACTCCAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	-33	c.-16 others(44): Show c.-1610_-1578delTTTGGAGTCCTGACTCTAATACTTAATAGCTGT		MED8	ENSG00000159479.17	transcript	ENST00000372457.9	protein_coding					1542		chr1	TogoVar
MEF2B_chr19_19140567_19175263	19150095	AAAAAAAA others(26): Show AAAAAAAAAAAAGGAAGGATGGAAGGAGGGATGG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19240.hp2 HG03453.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0233 a0001c0001t0001g0209 a0001c0001t0001g0233	2	404	0.0050	-33	c.54+ others(46): Show c.54+554_54+586delCCATCCCTCCTTCCATCCTTCCTTTTTTTTTT T		MEF2B	ENSG00000213999.17	transcript	ENST00000424583.7	protein_coding	2/8						chr19	TogoVar
MEMO1_chr2_31862823_32016008	32002444	ATACATAT others(26): Show ATACATATATGAGTTAAATATTCATACTGCAGTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02622.hp1 HG01109.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0290 a0001c0001t0001g0291	2	304	0.0066	-33	c.61+ others(48): Show c.61+7710_61+7742delAACTGCAGTATGAATATTTAACTCATATAT GTA		MEMO1	ENSG00000162959.14	transcript	ENST00000404530.6	protein_coding	2/9						chr2	TogoVar
METTL17_chr14_20984980_21002035	20996603	CCCGTATC others(26): Show CCCGTATCACTCAGCCTGTCCTTAAACGGCCTCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19010.hp1 NA19010.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0034 a0005c0005t0001g0034	1	478	0.0021	-33	c.116 others(42): Show c.1160_1192delGTATCACTCAGCCTGTCCTTAAACGGCCTCGCC	p.Arg others(13): Show p.Arg387_Arg397del	METTL17	ENSG00000165792.18	transcript	ENST00000339374.11	protein_coding	13/14	1183/1539	1160/1371	387/456		INFO_REALIGN_3_PRIME	chr14	TogoVar
MFF_chr2_227320251_227362833	227326080	GACCTTCC others(26): Show GACCTTCCTCTGCAGGACGTGTGCTACTATTACT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0173 a0001c0003t0004g0173	1	406	0.0025	-33	c.-15 others(50): Show c.-153+655_-153+687delCCTTCCTCTGCAGGACGTGTGCTACTAT TACTA		MFF	ENSG00000168958.21	transcript	ENST00000304593.14	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
MFN1_chr3_179342709_179399936	179374301	AAATATAT others(26): Show AAATATATATATAACATATATAACATATATATGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(256): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01952.hp1 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18972.hp1 NA18972.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19003.hp2 NA19005.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19059.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19078.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0008 a0001c0009 others(4): Show a0001c0001 a0001c0008 a0001c0009 a0002c0003 a0003c0006 a0004c0007 a0005c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(41): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0008t0019 a0001c0009t0039 a0002c0003t0001 a0002c0003t0003 a0003c0006t0003 a0004c0007t0012 a0005c0010t0032	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(207): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0217 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0003g0002 a0001c0001t0003g0011 a0001c0001t0003g0015 a0001c0001t0003g0045 a0001c0001t0003g0099 a0001c0001t0003g0110 a0001c0001t0003g0117 a0001c0001t0003g0122 a0001c0001t0003g0133 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0240 a0001c0001t0003g0253 a0001c0001t0003g0262 a0001c0001t0003g0268 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0004g0001 a0001c0001t0004g0026 a0001c0001t0004g0069 a0001c0001t0004g0079 a0001c0001t0004g0083 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0096 a0001c0001t0006g0009 a0001c0001t0006g0020 a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0006g0290 a0001c0001t0006g0292 a0001c0001t0006g0295 a0001c0001t0006g0296 a0001c0001t0006g0297 a0001c0001t0006g0298 a0001c0001t0007g0019 a0001c0001t0007g0088 a0001c0001t0007g0156 a0001c0001t0007g0248 a0001c0001t0007g0257 a0001c0001t0007g0258 a0001c0001t0007g0259 a0001c0001t0007g0261 a0001c0001t0007g0263 a0001c0001t0007g0265 a0001c0001t0007g0274 a0001c0001t0009g0024 a0001c0001t0009g0025 a0001c0001t0009g0057 a0001c0001t0009g0058 a0001c0001t0009g0062 a0001c0001t0009g0063 a0001c0001t0009g0064 a0001c0001t0009g0065 a0001c0001t0009g0066 a0001c0001t0009g0289 a0001c0001t0010g0001 a0001c0001t0010g0027 a0001c0001t0010g0081 a0001c0001t0010g0084 a0001c0001t0012g0023 a0001c0001t0012g0056 a0001c0001t0012g0059 a0001c0001t0012g0060 a0001c0001t0012g0061 a0001c0001t0013g0135 a0001c0001t0014g0014 a0001c0001t0014g0070 a0001c0001t0014g0071 a0001c0001t0014g0072 a0001c0001t0014g0074 a0001c0001t0015g0021 a0001c0001t0015g0299 a0001c0001t0015g0300 a0001c0001t0015g0301 a0001c0001t0015g0302 a0001c0001t0016g0080 a0001c0001t0016g0082 a0001c0001t0017g0039 a0001c0001t0017g0090 a0001c0001t0017g0093 a0001c0001t0017g0094 a0001c0001t0017g0095 a0001c0001t0018g0022 a0001c0001t0018g0050 a0001c0001t0018g0052 a0001c0001t0018g0053 a0001c0001t0019g0054 a0001c0001t0019g0105 a0001c0001t0019g0106 a0001c0001t0021g0009 a0001c0001t0022g0014 a0001c0001t0023g0303 a0001c0001t0023g0304 a0001c0001t0025g0020 a0001c0001t0025g0291 a0001c0001t0026g0047 a0001c0001t0026g0100 a0001c0001t0029g0010 a0001c0001t0029g0029 a0001c0001t0031g0132 a0001c0001t0031g0254 a0001c0001t0032g0229 a0001c0001t0034g0051 a0001c0001t0034g0055 a0001c0001t0035g0103 a0001c0001t0036g0210 a0001c0001t0037g0293 a0001c0001t0038g0294 a0001c0001t0040g0021 a0001c0001t0045g0024 a0001c0001t0046g0087 a0001c0001t0047g0029 a0001c0001t0048g0128 a0001c0001t0049g0042 a0001c0001t0050g0233 a0001c0001t0051g0252 a0001c0001t0052g0227 a0001c0008t0019g0104 a0001c0009t0039g0225 a0002c0003t0001g0235 a0002c0003t0003g0236 a0003c0006t0003g0245 a0004c0007t0012g0023 a0005c0010t0032g0208	259	402	0.6443	-33	c.976 others(48): Show c.976-840_976-808delACATATATAACATATATATGTAATATATAT ATA		MFN1	ENSG00000171109.19	transcript	ENST00000471841.6	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
MFSD14B_chr9_94369569_94466042	94463732	TGGCGGGC others(26): Show TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0064 a0001c0001t0004g0064	1	350	0.0029	-33	c.43 others(44): Show c.4321_*4353delGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG		MFSD14B	ENSG00000148110.17	transcript	ENST00000375344.8	protein_coding					2691		chr9	TogoVar
MFSD3_chr8_144504070_144516213	144509832	TTTCTGCT others(26): Show TTTCTGCTCCTGGCTGCCACCTACTGGCTGGCCG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18946.hp2 NA18946.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0004 a0011c0013t0001g0004	1	400	0.0025	-33	c.500 others(40): Show c.500_532delTTCTGCTCCTGGCTGCCACCTACTGGCTGGCCG	p.Phe others(19): Show p.Phe167_Ala178delinsSer	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding	1/5	764/1552	500/1239	167/412			chr8	TogoVar
MGAM_chr7_141990879_142111747	142067956	ATATATAT others(26): Show ATATATATAAATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp2 HG02257.hp2 HG02622.hp2	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0002 a0007c0020t0002	a0007c0020t0002g0060 a0007c0020t0002g0062 a0007c0020t0002g0060 a0007c0020t0002g0062	2	316	0.0063	-33	c.500 others(50): Show c.5004+533_5004+565delATATATAAATATATATATATATATATAT ATTTT		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	42/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142067958	ATATATAA others(26): Show ATATATAAATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03927.hp2 HG02056.hp2 HG03927.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0053 a0002c0002 a0005c0053	a0002c0002t0001 a0005c0053t0001 a0002c0002t0001 a0005c0053t0001	a0002c0002t0001g0247 a0005c0053t0001g0181 a0002c0002t0001g0247 a0005c0053t0001g0181	2	316	0.0063	-33	c.500 others(50): Show c.5004+535_5004+567delATATAAATATATATATATATATATATAT TTTTT		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	42/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MIA_chr19_40770521_40782490	40782170	TGCACAGA others(26): Show TGCACAGAGCCCAAAGGCAGAGAGAGGGGCTGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	-33	c.47 others(44): Show c.4751_*4783delGCACAGAGCCCAAAGGCAGAGAGAGGGGCTGAA		MIA	ENSG00000261857.7	transcript	ENST00000263369.4	protein_coding					4681		chr19	TogoVar
MIB1_chr18_21735792_21875953	21738806	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18972.hp2 NA19060.hp1 NA18971.hp2 NA18972.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0186 a0001c0001t0001g0294 a0001c0001t0001g0099 a0001c0001t0001g0186 a0001c0001t0001g0294	3	308	0.0097	-33	c.-27 others(44): Show c.-2777_-2745delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		MIB1	ENSG00000101752.13	transcript	ENST00000261537.7	protein_coding					1985		chr18	TogoVar
MICALL2_chr7_1429359_1464470	1442630	ACCTCCCC others(26): Show ACCTCCCCCACCATTGCGCCAGGCCACCCCTCCG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	280	0.0036	-33	c.141 others(50): Show c.1419-179_1419-147delCGGAGGGGTGGCCTGGCGCAATGGTGGG GGAGG		MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	6/16						chr7	TogoVar
MICALL2_chr7_1429359_1464470	1442662	CGCCTCCC others(26): Show CGCCTCCCCCACCATTGCACCAGGCTGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01123.hp2 HG02015.hp2 others(1): Show HG00642.hp2 HG01123.hp2 HG02015.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0219 a0001c0007t0001g0012 a0001c0007t0001g0096 a0001c0001t0001g0219 a0001c0007t0001g0012 a0001c0007t0001g0096	4	280	0.0143	-33	c.141 others(50): Show c.1419-211_1419-179delAGAGGGGCAGCCTGGTGCAATGGTGGGG GAGGC		MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	6/16						chr7	TogoVar
MICU1_chr10_72362340_72631079	72500280	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	208	0.0048	-33	c.652 others(50): Show c.652+7842_652+7874delAAAAAAAAAAATATATATATATATATAT ATATA		MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding	6/11						chr10	TogoVar
MIER2_chr19_300573_349796	303347	CCTCATCA others(26): Show CCTCATCAGACACCTCAATACACCAAAGCACATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG02145.hp2 HG02559.hp1 others(16): Show HG01516.hp1 HG02145.hp2 HG02559.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03471.hp2 HG03516.hp1 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0001t0001 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0314 others(13): Show a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0007g0320 a0001c0002t0001g0220	19	384	0.0495	-33	c.33 others(44): Show c.3310_*3342delAATGTGCTTTGGTGTATTGAGGTGTCTGATGAG		MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding					2225		chr19	TogoVar
MINDY2_chr15_58766302_58866900	58852939	TTTTTTTT others(26): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00558.hp1 others(26): Show HG00438.hp1 HG00544.hp2 HG00558.hp1 HG02015.hp2 HG02071.hp1 HG02080.hp2 HG02155.hp2 NA18939.hp2 NA18943.hp2 NA18950.hp1 NA18954.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18968.hp1 NA18971.hp2 NA18975.hp1 NA18986.hp2 NA18989.hp1 NA18995.hp1 NA19001.hp2 NA19005.hp2 NA19056.hp2 NA19058.hp2 NA19068.hp1 NA19080.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0022 a0004c0007t0002	a0001c0001t0002g0205 a0001c0001t0002g0320 a0001c0001t0002g0330 others(26): Show a0001c0001t0002g0205 a0001c0001t0002g0320 a0001c0001t0002g0330 a0001c0001t0002g0335 a0001c0001t0002g0341 a0001c0001t0002g0354 a0001c0001t0002g0357 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0001t0002g0367 a0001c0001t0002g0368 a0001c0001t0002g0371 a0001c0001t0005g0215 a0001c0001t0005g0217 a0001c0001t0005g0218 a0001c0001t0005g0223 a0001c0001t0005g0231 a0001c0001t0005g0336 a0001c0001t0005g0376 a0001c0001t0008g0296 a0001c0001t0008g0310 a0001c0001t0008g0334 a0001c0001t0008g0337 a0001c0001t0008g0351 a0001c0001t0022g0333 a0001c0001t0022g0343 a0004c0007t0002g0348	29	384	0.0755	-33	c.173 others(51): Show c.1737+975_1737+1007delTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTAA		MINDY2	ENSG00000128923.11	transcript	ENST00000559228.6	protein_coding	8/8						chr15	TogoVar
MKNK1_chr1_46552407_46609268	46585249	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	346	0.0029	-33	c.-2- others(48): Show c.-2-1953_-2-1921delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		MKNK1	ENSG00000079277.22	transcript	ENST00000371945.10	protein_coding	2/12						chr1	TogoVar
MKRN1_chr7_140448033_140484505	140474004	AAAAAGAA others(26): Show AAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03239.hp1 HG00323.hp2 HG03239.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0058 a0002c0003t0001g0059 a0002c0003t0001g0058 a0002c0003t0001g0059	2	434	0.0046	-33	c.186 others(50): Show c.186-2026_186-1994delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTT		MKRN1	ENSG00000133606.11	transcript	ENST00000255977.7	protein_coding	1/7						chr7	TogoVar
MLPH_chr2_237482251_237560322	237542837	GGGGGACA others(26): Show GGGGGACAGTGGTGAGTGGCGGACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp1 HG02486.hp2 others(3): Show HG00642.hp2 HG01099.hp1 HG02486.hp2 HG02723.hp1 HG03098.hp1 HG03139.hp2	a0003 a0006 a0015 others(1): Show a0003 a0006 a0015 a0032	a0003c0003 a0006c0006 a0015c0024 others(1): Show a0003c0003 a0006c0006 a0015c0024 a0032c0047	a0003c0003t0005 a0006c0006t0003 a0006c0006t0005 others(2): Show a0003c0003t0005 a0006c0006t0003 a0006c0006t0005 a0015c0024t0001 a0032c0047t0005	a0003c0003t0005g0136 a0006c0006t0003g0120 a0006c0006t0005g0020 others(3): Show a0003c0003t0005g0136 a0006c0006t0003g0120 a0006c0006t0005g0020 a0006c0006t0005g0139 a0015c0024t0001g0140 a0032c0047t0005g0036	6	286	0.0210	-33	c.153 others(50): Show c.1539+183_1539+215delACAGTGGTGAGTGGCGGACAGTGGTGAG TGGGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543128	GGGCACAG others(26): Show GGGCACAGTAGTGAGTAGGGGGACAGTGGTGAAT	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	286	0.0035	-33	c.153 others(50): Show c.1539+472_1539+504delCACAGTAGTGAGTAGGGGGACAGTGGTG AATGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543537	GGTGAGTG others(26): Show GGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTA	G G	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0244 a0001c0022t0001g0244	1	286	0.0035	-33	c.153 others(50): Show c.1539+890_1539+922delACAGTGGTGAGTGGGCACGGTAGTGAGT GGGGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543549	ACAGTGGT others(26): Show ACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01981.hp1 others(1): Show HG00738.hp2 HG01167.hp1 HG01981.hp1 NA19090.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0007c0007t0002 a0001c0001t0001 a0001c0001t0002 a0007c0007t0002	a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0002g0171 others(1): Show a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0002g0171 a0007c0007t0002g0032	4	286	0.0140	-33	c.153 others(50): Show c.1539+891_1539+923delCAGTGGTGAGTGGGCACGGTAGTGAGTG GGGGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15						chr2	TogoVar
MLPH_chr2_237482251_237560322	237543818	TGGGGGGA others(26): Show TGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0236 a0001c0001t0004g0236	1	286	0.0035	-33	c.153 others(52): Show c.1539+1160_1539+1192delGGGGGGACAGTGGTGAGTGGGCACGG TAGTGAG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15						chr2	TogoVar
MLPH_chr2_237482251_237560322	237543967	GGTGAGTG others(26): Show GGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG02486.hp1 others(1): Show HG01884.hp1 HG02280.hp1 HG02486.hp1 HG03225.hp2	a0003 a0009 a0015 others(1): Show a0003 a0009 a0015 a0031	a0003c0003 a0009c0011 a0015c0024 others(1): Show a0003c0003 a0009c0011 a0015c0024 a0031c0028	a0003c0003t0005 a0009c0011t0001 a0015c0024t0005 others(1): Show a0003c0003t0005 a0009c0011t0001 a0015c0024t0005 a0031c0028t0001	a0003c0003t0005g0242 a0009c0011t0001g0089 a0015c0024t0005g0138 others(1): Show a0003c0003t0005g0242 a0009c0011t0001g0089 a0015c0024t0005g0138 a0031c0028t0001g0128	4	286	0.0140	-33	c.153 others(52): Show c.1539+1320_1539+1352delACAGTGGTGAGTGGGCACGGTAGTGA GTGGGGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MMP26_chr11_4699784_4997429	4781553	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	206	0.0049	-33	c.-14 others(54): Show c.-145+14234_-145+14266delAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr11	TogoVar

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