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
KIAA1549_chr7_138826381_138986389	138920145	T T	TTCTCACC others(248): Show TTCTCACCCCGGCCTGGAATGCCCTTCCCCAGCTCTCTATATGGATGGAT CCTCTCACCCCCACCTGGAATGCCCTTCCCCAGCTCTCTATATGGATGGA TCCTCTCACCCCCGCCTGGAATGCCCTTCCCCAGCTCTCTATATGGATGG ATCCTCTCAGCCCCGCCTGGAATGCCCTTCCCCAGCTCTCTATATGGATG GATCCTCTCACCCCCGCCTGGAATGCCCTTCCCCAGCTCTCTATATGGAT GGATCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01361.hp1 HG02698.hp1 HG01167.hp2 HG01361.hp1 HG02698.hp1	a0001 a0017 a0023 a0001 a0017 a0023	a0001c0001 a0017c0063 a0023c0049 a0001c0001 a0017c0063 a0023c0049	a0001c0001t0058 a0017c0063t0010 a0023c0049t0002 a0001c0001t0058 a0017c0063t0010 a0023c0049t0002	a0001c0001t0058g0078 a0017c0063t0010g0048 a0023c0049t0002g0079 a0001c0001t0058g0078 a0017c0063t0010g0048 a0023c0049t0002g0079	3	204	0.0147	255	c.188 others(270): Show c.188-708_188-707insGGATCCATCCATATAGAGAGCTGGGGAAGG GCATTCCAGGCGGGGGTGAGAGGATCCATCCATATAGAGAGCTGGGGAAG GGCATTCCAGGCGGGGCTGAGAGGATCCATCCATATAGAGAGCTGGGGAA GGGCATTCCAGGCGGGGGTGAGAGGATCCATCCATATAGAGAGCTGGGGA AGGGCATTCCAGGTGGGGGTGAGAGGATCCATCCATATAGAGAGCTGGGG AAGGGCATTCCAGGCCGGGGTGAGA	KIAA1549	ENSG00000122778.10	transcript	ENST00000422774.2	protein_coding	1/19			chr7	TogoVar
KIAA1549_chr7_138826381_138986389	138920145	T T	TTGTCACC others(248): Show TTGTCACCCCTGCCTGGAATGCCCTTCCCCAGCTCTCTATATGGATGGAT CCTCTCACCCCCACCTGGAATGCCCTTCCCCAGCTCTCTATATGGATGGA TCCTCTCACCCCCGCCTGGAATGCCCTTCCCCAGCTCTCTATATGGATGG ATCCTCTCAGCCCCGCCTGGAATGCCCTTCCCCAGCTCTCTATATGGATG GATCCTCTCACCCCCGCCTGGAATGCCCTTCCCCAGCTCTCTATATGGAT GGATCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01243.hp2 others(19): Show HG00738.hp1 HG00741.hp1 HG01243.hp2 HG02109.hp2 HG02145.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG03041.hp1 HG03225.hp1 HG03453.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04228.hp1 NA19043.hp1 NA20905.hp2	a0002 a0004 a0005 others(2): Show a0002 a0004 a0005 a0010 a0019	a0002c0002 a0002c0055 a0002c0057 others(8): Show a0002c0002 a0002c0055 a0002c0057 a0004c0007 a0004c0016 a0004c0061 a0005c0011 a0005c0032 a0005c0051 a0010c0029 a0019c0062	a0002c0002t0002 a0002c0002t0017 a0002c0055t0055 others(13): Show a0002c0002t0002 a0002c0002t0017 a0002c0055t0055 a0002c0057t0037 a0004c0007t0001 a0004c0007t0002 a0004c0016t0004 a0004c0061t0002 a0005c0011t0016 a0005c0011t0042 a0005c0011t0045 a0005c0011t0065 a0005c0032t0061 a0005c0051t0014 a0010c0029t0020 a0019c0062t0001	a0002c0002t0002g0001 a0002c0002t0002g0162 a0002c0002t0017g0058 others(18): Show a0002c0002t0002g0001 a0002c0002t0002g0162 a0002c0002t0017g0058 a0002c0055t0055g0071 a0002c0057t0037g0096 a0004c0007t0001g0059 a0004c0007t0001g0068 a0004c0007t0001g0070 a0004c0007t0001g0117 a0004c0007t0002g0069 a0004c0016t0004g0065 a0004c0016t0004g0066 a0004c0061t0002g0110 a0005c0011t0016g0194 a0005c0011t0042g0040 a0005c0011t0045g0173 a0005c0011t0065g0163 a0005c0032t0061g0017 a0005c0051t0014g0195 a0010c0029t0020g0104 a0019c0062t0001g0067	22	204	0.1078	255	c.188 others(270): Show c.188-708_188-707insGGATCCATCCATATAGAGAGCTGGGGAAGG GCATTCCAGGCGGGGGTGAGAGGATCCATCCATATAGAGAGCTGGGGAAG GGCATTCCAGGCGGGGCTGAGAGGATCCATCCATATAGAGAGCTGGGGAA GGGCATTCCAGGCGGGGGTGAGAGGATCCATCCATATAGAGAGCTGGGGA AGGGCATTCCAGGTGGGGGTGAGAGGATCCATCCATATAGAGAGCTGGGG AAGGGCATTCCAGGCAGGGGTGACA	KIAA1549	ENSG00000122778.10	transcript	ENST00000422774.2	protein_coding	1/19			chr7	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(248): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGGCGGGAACGGCGCTGC GGGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGC TGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCG GGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCG CTGCGG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0039 a0002c0002t0003g0039	1	375	0.0027	255	c.317 others(272): Show c.317+1409_317+1410insGGGGGGCGGGAACGGCGCTGCGGGGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGGGGGCGGGAACGGCGCTGCGGG GGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGG GGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGG GGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGCGGGAACGGCGCTGCGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(248): Show CGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGGCGGGAACGGCGCTG CGGGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCG CTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGC GGGGGGGCGGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGC GGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGC GCTGCG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0037 a0002c0002t0003g0037	1	375	0.0027	255	c.317 others(272): Show c.317+1409_317+1410insGGGGGGGCGGGAACGGCGCTGCGGGGGG GGGGGCGGGAACGGCGCTGCGGGGGGGGGGGGGCGGGAACGGCGCTGCGG GGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGG GGGGCGGGAACGGCGCTGCGGGGGGGCGGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGGCGGGAACGGCGCTGCGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(248): Show CGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGGGGGCGGGAACGG CGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCG CTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCG GGGCGGGGGGGCGGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCG CTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGC GCTGCG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0096 a0002c0002t0003g0096	1	375	0.0027	255	c.317 others(272): Show c.317+1438_317+1439insGGGCGGGAACGGCGCTGCGGGGGGGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGCG GGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGG GAACGGCGCTGCGGGGCGGGGGGGCGGGGAACGGCGCTGCGGGGCGGGGG GGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGG GGGCGGGAACGGCGCTGCGGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KREMEN1_chr22_29068035_29151820	29120329	T T	TGGAAACA others(248): Show TGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAATGGAGGAGGGAGAGG TGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGA GGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAG GGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAT GGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGT GATGAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA18955.hp2 NA18963.hp2 others(5): Show HG01255.hp1 NA18955.hp2 NA18963.hp2 NA18966.hp1 NA18986.hp1 NA19003.hp1 NA19010.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0018 others(1): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0018 a0001c0002t0022	a0001c0002t0001g0114 a0001c0002t0004g0056 a0001c0002t0018g0004 others(4): Show a0001c0002t0001g0114 a0001c0002t0004g0056 a0001c0002t0018g0004 a0001c0002t0022g0031 a0001c0002t0022g0037 a0001c0002t0022g0044 a0001c0002t0022g0057	8	368	0.0217	255	c.353 others(271): Show c.353-1000_353-999insTGGAAATGGAGGAGGGAGAGGTGATGAAG GAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGG TGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGG GAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAG GGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGG AAACAGGGAGGAGGGAGAGGTGATGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LAMA5_chr20_62304065_62372312	62349805	T T	TGGTGGGG others(248): Show TGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGGTGG GGGTGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGATGGTGATGGTG GGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGG GGTGGG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02602.hp1 HG02015.hp1 HG02602.hp1	a0004 a0005 a0004 a0005	a0004c0004 a0005c0018 a0004c0004 a0005c0018	a0004c0004t0001 a0005c0018t0002 a0004c0004t0001 a0005c0018t0002	a0004c0004t0001g0099 a0005c0018t0002g0122 a0004c0004t0001g0099 a0005c0018t0002g0122	2	186	0.0108	255	c.956 others(272): Show c.956+1898_956+1899insCCCACCCCCACCCCCACCATCACCCCCA CCATCATCACCCTCACCATCATCACCCCCACCATCACCATCATCACCCCC ACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCTCTACCAT CACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCC ACCGCCATCACCGTCATCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62349826	T T	TGGCGGTG others(248): Show TGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGGTGG GGGTGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGATGGTGATGGTG GGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGG GGTGGG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0017 a0017	a0017c0083 a0017c0083	a0017c0083t0001 a0017c0083t0001	a0017c0083t0001g0129 a0017c0083t0001g0129	1	186	0.0054	255	c.956 others(272): Show c.956+1877_956+1878insCCCACCCCCACCCCCACCATCACCCCCA CCATCATCACCCTCACCATCATCACCCCCACCATCACCATCATCACCCCC ACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCTCTACCAT CACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCC ACCCCCACCGTCATCACCCCCACCGCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LMF1_chr16_848634_975984	857915	C C	CAGTGGTG others(248): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCGT GGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGA CGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCACGGGATGGG TGTGCA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19077.hp2 NA19009.hp2 NA19077.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0180 a0001c0003t0001g0237 a0001c0003t0001g0180 a0001c0003t0001g0237	2	294	0.0068	255	c.153 others(274): Show c.1530-3210_1530-3209insTGCACACCCATCCCGTGACACCACGC ACACCCATCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGT CCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCG AGACACCACGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858271	T T	TCGGGATG others(248): Show TCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGG GATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCACGGGA TGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGG TGTGCGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTG CGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTG GTGTCA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0242 a0001c0018t0001g0242	1	294	0.0034	255	c.153 others(274): Show c.1530-3566_1530-3565insTGACACCACGCACACCCATCCCGAGA CACCACGCACACCCATCCCGAGACACCACGCACACCCATCCCGAGACACC ACGCACACCCATCCCGAGACACCACGCACACCCATCCCGAGACACCACTC ACACCCATCCCGTGACACCACTCACACCCATCCCGTGACACCACTGCACA CCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTCACACCC ATCCCGAGACACCACTCACACCCATCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRRC27_chr10_132327193_132386508	132358414	G G	GGAGCAGT others(248): Show GGAGCAGTGTGGGGAGGAGCCGAGCTGGTGGAGCAGCGTAGGGAGGAGCC GAGGTGGTGGAGCGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAG GAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTAGAGCAGT GTGGGGAGGAGCCAAGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGA GCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAG GTGGTA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02109.hp2 HG02970.hp1 HG01261.hp1 HG02109.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0124 a0001c0001t0014g0125 a0001c0001t0014g0130 a0001c0001t0014g0124 a0001c0001t0014g0125 a0001c0001t0014g0130	3	290	0.0103	255	c.117 others(274): Show c.1170+2534_1170+2535insTGTGGGGAGGAGCCGAGCTGGTGGAG CAGCGTAGGGAGGAGCCGAGGTGGTGGAGCGTGGGGAGGAGCCGAGGTGG TGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGC CGAGGTGGTAGAGCAGTGTGGGGAGGAGCCAAGGTGGTGGAGTGTGGGGA GGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAG TGTGGGGAGGAGCCGAGGTGGTAGAGCAG	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132359099	C C	CAGCGTGG others(248): Show CAGCGTGGGGAGGAGCCAAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGG TGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGG AGCCGAGGTGGTAGAGCAGTGTGGGGAGGAGCCAAGGTGGTGGAGCAGCG TGGGGAGGAGCCGAGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGATGGAG CAGCGTGGGGAGGAGCCGAGGTGATGGAGCAGCGTGGGGAGGAGCCGAGG TGGTGG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0104 a0001c0001t0017g0104	1	290	0.0035	255	c.117 others(274): Show c.1171-2356_1171-2355insCGTGGGGAGGAGCCAAGGTGGTGGAG CAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGG TGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTAGAGCAGTGTGGGGAGG AGCCAAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGGTGGAGTGTGG GGAGGAGCCGAGGTGATGGAGCAGCGTGGGGAGGAGCCGAGGTGATGGAG CAGCGTGGGGAGGAGCCGAGGTGGTGGAG	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LY75_chr2_159798355_159909756	159874071	A A	AAAATACA others(248): Show AAAATACATATAAACGTATATATTTTGTAAAAATACATATAAACGTATAT ATTTTGTAAAAATACATATAAACGTATATATTTTGTAAAAATACATATAA ACGTATATATTTTGTAAAAATACATATAAACGTATATATTTTGTAAAAAT ACATATAAACGTATATATTTTGTAAAAATACATATAAACGTATATATTTT GTAAAAATATATAAACGTATATATTTTGTAAAAATATATAAACGTATATA TTTTGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0019 a0019	a0019c0020 a0019c0020	a0019c0020t0001 a0019c0020t0001	a0019c0020t0001g0132 a0019c0020t0001g0132	1	330	0.0030	255	c.197 others(274): Show c.1974+1372_1974+1373insACAAAATATATACGTTTATATATTTT TACAAAATATATACGTTTATATATTTTTACAAAATATATACGTTTATATG TATTTTTACAAAATATATACGTTTATATGTATTTTTACAAAATATATACG TTTATATGTATTTTTACAAAATATATACGTTTATATGTATTTTTACAAAA TATATACGTTTATATGTATTTTTACAAAATATATACGTTTATATGTATTT TTACAAAATATATACGTTTATATGTATTT	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MAEA_chr4_1284891_1345137	1317117	G G	GCCCCACA others(248): Show GCCCCACACTCTAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCA GACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCCCAGGC CCACCCCGGCCCCCACACTCCACACTCACCTGCAGGCCCACCCGGTCCCA CACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCA CCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCAC CCCAGC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	388	0.0026	255	c.456 others(272): Show c.456+1517_456+1518insCCCCACACTCTAGACTCACCCCCAGGCC CACCCCGGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGTCCCAC ACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCACACTCAC CTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCC AGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTC CAGACTCACCCGCAGGCCCACCCCAGC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8			chr4	TogoVar
MAEA_chr4_1284891_1345137	1317118	T T	TCCCACAC others(248): Show TCCCACACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCAC ACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCC CACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGTCCCAC ACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCAC CCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACC CCAGCC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	388	0.0026	255	c.456 others(272): Show c.456+1538_456+1539insCCAGGCCCACCCCGGCCCCCACACTCCA CACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGC CCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGTCCCA CACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCA CCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCAC CCCAGCCCCCACACTCCAGACTCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317145	C C	CCACCCCG others(248): Show CCACCCCGGCCCCCACACTCCAGATTCACCTGCAGGCCCACCCGGTCCCA CACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCA CCCGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCC CAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACT CCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCG CAGGCT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0369 a0001c0001t0001g0369	1	388	0.0026	255	c.456 others(272): Show c.456+1551_456+1552insGGCCCCCACACTCCAGATTCACCTGCAG GCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCC CACACTCCAGACTCACCCGCAGGCCCACCCGGTCCCACACTCCAGACTCA CCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCAC CCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACA CTCCAGACTCACCCGCAGGCTCACCCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317175	T T	TGCAGGCC others(248): Show TGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCCCAGGCCCACCCCG GCCCCCACACTCCACACTCACCTGCAGGCCCACCCGGTCCCACACTCCAG ACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCC CCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGAC TCACCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0087 a0001c0002t0011g0087	1	388	0.0026	255	c.456 others(272): Show c.456+1587_456+1588insGGTCCCACACTCCAGACTCACCCCCAGG CCCACCCCGGCCCCCACACTCCACACTCACCTGCAGGCCCACCCGGTCCC ACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTC ACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCA CCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCAC ACTCCAGACTCACCCGCAGGCCCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317182	C C	CCACCCGG others(248): Show CCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCA CACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCA CCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCAC CCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCGGCCCCACACT CCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACCCG CAGGCT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	388	0.0026	255	c.456 others(272): Show c.456+1587_456+1588insGGTCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCC CCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGAC TCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCC CACCCGGCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCAC ACTCCAGACTCACCCGCAGGCTCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163894671	C C	CATATATA others(248): Show CATATATATATGCATGTGATGCATATATATATATGCATGTGATGCATATA TATATATGCATGTGATGCATATATATATATGCATGTGATGCATATATATA TATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATATG CATGTGATGCATATATATATATGCATGTGATGCATATATATATATGCATG TGATGCATATATATATATGCATGTGATGCATATATATATATGCATGTGAT GCATAT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0052	1	102	0.0098	255	c.-38 others(274): Show c.-38-40503_-38-40502insATATGCATCACATGCATATATATATA TGCATCACATGCATATATATATATGCATCACATGCATATATATATATGCA TCACATGCATATATATATATGCATCACATGCATATATATATATGCATCAC ATGCATATATATATATGCATCACATGCATATATATATATGCATCACATGC ATATATATATATGCATCACATGCATATATATATATGCATCACATGCATAT ATATATATGCATCACATGCATATATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MASP2_chr1_11021523_11052239	11041736	T T	TAGAAGAA others(248): Show TAGAAGAATGGGTGGATGGATAGATAGATGCTGGAAGGATGGATTAATGG GTGGATTGATGATGGGTAGGATTGGTAGGTAGAAGGATGGGTGGGTGGAT AGATGGATAGCTGGATGGATGCATGGATACATGGATGGATGGATGGATGG ATAGATGGATAGATAGATAGATAGATAGATAGACAGACAGATATGTAGAA GGGTGGGTGGATGGGTAGATAAATAGAAGGATGGGTGGATAGAGGATGAG TGGGTG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	346	0.0029	255	c.889 others(272): Show c.889+1138_889+1139insCACCCACTCATCCTCTATCCACCCATCC TTCTATTTATCTACCCATCCACCCACCCTTCTACATATCTGTCTGTCTAT CTATCTATCTATCTATCTATCCATCTATCCATCCATCCATCCATCCATGT ATCCATGCATCCATCCAGCTATCCATCTATCCACCCACCCATCCTTCTAC CTACCAATCCTACCCATCATCAATCCACCCATTAATCCATCCTTCCAGCA TCTATCTATCCATCCACCCATTCTTCT	MASP2	ENSG00000009724.18	transcript	ENST00000400897.8	protein_coding	6/10			chr1	TogoVar
MBP_chr18_76973833_77137783	77028660	T T	TGGGCAGA others(248): Show TGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CCACCTCCCTCCCGGACGGGGCAGCTGGCTGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCTGGACGGGGCGG CTGGCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0207 a0001c0001t0009g0207	1	396	0.0025	255	c.140 others(274): Show c.140-11393_140-11392insGGCCAGCCGCCCCGTCCAGGAGGGAG GTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGG GGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC AGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBTPS1_chr16_84048763_84121942	84051332	C C	CCCGCATG others(248): Show CCCGCATGTGGGTAAGGAGAGCTACAAGGCCCGCATGTGCTTAAGGAGAG CTGCAAGGCCGCATGTGGGTAAGGAGAGCTACAAGGCCGCATGTGGGTAA GGAGAGCTACAAGGCCCGCATGTGCTTAAGGAGAGCTGCAAGGCCGCATG TGGGTAAGGAGAGCTACAAGGCCGCATGTAGGTAAGGAGAGCTGCAAGGC CGCATGTGGGTAAGGAGAGCTGCAAGGCCCACATGTGGGTAAGGAGAGCT GCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0359 a0001c0007t0003g0362 a0001c0007t0003g0359 a0001c0007t0003g0362	2	424	0.0047	255	c.31 others(266): Show c.3116_*3117insCCTTGCAGCTCTCCTTACCCACATGTGGGCCTTG CAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACCTACATGCG GCCTTGTAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTAAGCA CATGCGGGCCTTGTAGCTCTCCTTACCCACATGCGGCCTTGTAGCTCTCC TTACCCACATGCGGCCTTGCAGCTCTCCTTAAGCACATGCGGGCCTTGTA GCTCTCCTTACCCACATGCGG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2430		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84051957	G G	GACCCCCA others(248): Show GACCCCCATGTGGGTAAGGAGAGCGGCAAGGCCCCATGTGGGTAAGGAGA GCGGCAAGGCCCGCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGGGT AAGGAGAGCTGCAAGGCCGCACGTGGGTAAGGAGAGCTGCAAGACCCCCA TGTGGGTAAGGAGAGCGGCAAGGCCCCATGTGGGTAAGGAGAGCTGCAAG GCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCGCATGTGGGTAAGGAGAG CTGCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00558.hp1 others(63): Show HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01168.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp2 HG02148.hp2 HG02258.hp1 HG02615.hp1 HG02698.hp1 HG02738.hp1 HG02976.hp2 HG03490.hp1 HG03710.hp1 HG03834.hp1 HG04199.hp1 NA18612.hp2 NA18940.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18956.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18985.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA19007.hp1 NA19009.hp2 NA19065.hp2 NA19077.hp1 NA19081.hp2 NA19084.hp1 NA19088.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0012 others(1): Show a0001c0001 a0001c0002 a0001c0012 a0008c0017	a0001c0001t0001 a0001c0001t0009 a0001c0001t0016 others(5): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0016 a0001c0001t0025 a0001c0001t0026 a0001c0002t0009 a0001c0012t0044 a0008c0017t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(61): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0203 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0009g0275 a0001c0001t0009g0280 a0001c0001t0016g0390 a0001c0001t0025g0387 a0001c0001t0026g0201 a0001c0002t0009g0306 a0001c0012t0044g0396 a0008c0017t0001g0177	66	424	0.1557	255	c.24 others(266): Show c.2491_*2492insTTGCAGCTCTCCTTACCCACATGCGGGCCTTGCA GCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACCCACATGGGGC CTTGCCGCTCTCCTTACCCACATGGGGGTCTTGCAGCTCTCCTTACCCAC GTGCGGCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTT ACCCACATGCGGGCCTTGCCGCTCTCCTTACCCACATGGGGCCTTGCCGC TCTCCTTACCCACATGGGGGT	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		1805		chr16	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(248): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02922.hp2 HG03017.hp1 others(2): Show HG00642.hp1 HG02922.hp2 HG03017.hp1 NA18999.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0075 a0001c0001t0001g0084 others(2): Show a0001c0001t0001g0048 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0113	5	181	0.0276	255	c.107 others(274): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCC	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(248): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	181	0.0055	255	c.107 others(274): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MPPED1_chr22_43407014_43512848	43496697	G G	GAGGTGAT others(248): Show GAGGTGATGGTGGAGGTAGTGGTGGTGGAGGTGGTGGTGGTGGAGATGGT GGTGGTGGAGATGGTGATGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGG TGGTGGAGGTGATGGTGGAGGTAGTGGTGGTGGAGGTGGTGGTGGTGGAG GTAGTGGTGGTGGAAGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGGTGGT GGTGGTGGAGGTAGTGGTGGTGGAAGTGGTGGTGGTGGAGGTAGTGGTGG TGGAGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0089 a0001c0002t0002g0089	1	250	0.0040	255	c.633 others(272): Show c.633-1538_633-1537insAGGTGATGGTGGAGGTAGTGGTGGTGGA GGTGGTGGTGGTGGAGATGGTGGTGGTGGAGATGGTGATGGTGGTGGAGA TGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGATGGTGGAGGTAGTGGTG GTGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAAGTGGTGGTGGTGGA GGTAGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAAGTGG TGGTGGTGGAGGTAGTGGTGGTGGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500145	G G	GTGGGGGT others(248): Show GTGGGGGTGATGGGGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGA GGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTGG TGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGT GATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGG TGGTGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0117 a0001c0001t0013g0117	1	250	0.0040	255	c.748 others(272): Show c.748+1803_748+1804insATGGGGGTGGTGATGGGGGTGGTGGTGG TGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATG GTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGT GATGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGG GGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTG ATGGTGATGGAGGTGGTGATGGGGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRGPRG_chr11_3212944_3223813	3216225	C C	CCCCCCAG others(248): Show CCCCCCAGATGGCCTTCAGACCAACAGTGCCCACACTCCCATCCTCCTGA GCCCCCCAGATGGCCTTCAGACCAACAGTGCCCACACTCCCATCCTCCTG AGCCCCCCAGATGGCCTTCAGACCAACAGTGCCCACACTCCCATCCTCCT GAGCCCCCCAGATGGCCTTCAGACCAACAGTGCCCACACTCCCATCCTCC TGAGCCCCCCAGATGGCCTTCAGACCAACAGTGCCCACACTCCCATCCTC CTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	426	0.0024	255	c.17 others(266): Show c.1718_*1719insACTCAGGAGGATGGGAGTGTGGGCACTGTTGGTC TGAAGGCCATCTGGGGGGCTCAGGAGGATGGGAGTGTGGGCACTGTTGGT CTGAAGGCCATCTGGGGGGCTCAGGAGGATGGGAGTGTGGGCACTGTTGG TCTGAAGGCCATCTGGGGGGCTCAGGAGGATGGGAGTGTGGGCACTGTTG GTCTGAAGGCCATCTGGGGGGCTCAGGAGGATGGGAGTGTGGGCACTGTT GGTCTGAAGGCCATCTGGGGG	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		1718		chr11	TogoVar
MROH1_chr8_144143016_144266926	144203163	G G	GGGAGCGC others(248): Show GGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGGAGCGCCCGCTGT CTGTGGAGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGGCGGGGGGGGG AGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAAGCGCCCGCTGTCTG TGGAGGGGCGGGGGGGGAAGCGCCCGCTGTCTGTGGAGGGGGGGGGGAGC GCCCGCTGTCTGTGGAGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGC GGGGGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0010 a0002c0004t0001g0010	1	140	0.0071	255	c.114 others(274): Show c.1141+2624_1141+2625insAGCGCCCGCTGTCTGTGGAGGGGCGG GGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGGGGGGAGCGCCCGCTGTC TGTGGAGGGGGCGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGG GGGGGAAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGAAGCGCCCGCTG TCTGTGGAGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGGGGGGGAGC GCCCGCTGTCTGTGGAGGGGCGGGGGAGG	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSLN_chr16_755734_773862	767672	G G	GGGCGTGG others(248): Show GGGCGTGGAGGAGGGGCGTGTGGAGGAGGAGGGGCGCATGGGGGGGTGTG GAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGC GCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGG GGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGC ACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGG AGGGGC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	388	0.0026	255	c.159 others(272): Show c.1596+203_1596+204insGCGTGGAGGAGGGGCGTGTGGAGGAGGA GGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAG GGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGG AGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCG TGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGT GGAGGAGGGGCGCGTGGAGGAGGGGCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767791	G G	GGGTGTGG others(248): Show GGGTGTGGAGGGGGGGCGCGTGGGGGTGCGTGGGGGGGCACGTGGAGGGG GGGCGTGTGGGGGGTGCGTGGGGGTGCGTGGAGGAGGGGCGTGTGGAGGA GGGGCCCGTGGAGGAGGGGCGAGTGGGAGGAGGGGGCGTGTGGAGGGGGG GCGAGTGGAGGAGCCCCGGTGGAGGGGGCGCGTGGAGGAGGGGCGCGTGG AGGAGGGGCGAGCGGGAGGAGGGGCACGTGGAGGAGGGGCGAGCGGGAGG AGGGGC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0262 a0004c0006t0001g0262	1	388	0.0026	255	c.159 others(272): Show c.1596+322_1596+323insGTGTGGAGGGGGGGCGCGTGGGGGTGCG TGGGGGGGCACGTGGAGGGGGGGCGTGTGGGGGGTGCGTGGGGGTGCGTG GAGGAGGGGCGTGTGGAGGAGGGGCCCGTGGAGGAGGGGCGAGTGGGAGG AGGGGGCGTGTGGAGGGGGGGCGAGTGGAGGAGCCCCGGTGGAGGGGGCG CGTGGAGGAGGGGCGCGTGGAGGAGGGGCGAGCGGGAGGAGGGGCACGTG GAGGAGGGGCGAGCGGGAGGAGGGGCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MUC4_chr3_195741771_195816929	195775694	C C	CCCATACC others(248): Show CCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTT CCACACCCATACCTTCCACAGTCATACCTTCCACATCCATACCTTCCACA GTCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCTT ACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTT CCACGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01123.hp2 HG01975.hp2 others(3): Show HG01069.hp2 HG01123.hp2 HG01975.hp2 HG03492.hp2 HG03669.hp2 HG03942.hp1	a0003 a0006 a0028 others(2): Show a0003 a0006 a0028 a0030 a0063	a0003c0003 a0006c0131 a0028c0137 others(2): Show a0003c0003 a0006c0131 a0028c0137 a0030c0135 a0063c0165	a0003c0003t0002 a0006c0131t0002 a0028c0137t0002 others(2): Show a0003c0003t0002 a0006c0131t0002 a0028c0137t0002 a0030c0135t0002 a0063c0165t0002	a0003c0003t0002g0010 a0003c0003t0002g0017 a0006c0131t0002g0015 others(3): Show a0003c0003t0002g0010 a0003c0003t0002g0017 a0006c0131t0002g0015 a0028c0137t0002g0024 a0030c0135t0002g0074 a0063c0165t0002g0027	6	249	0.0241	255	c.129 others(276): Show c.12944-1390_12944-1389insCCGTGGAAGGTATGACTGTGGAAG GTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTATG GGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGATGT GGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAG GTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATG GGTGTGGAAGGTATGACTGTGGAAGGTATGG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776385	C C	CCATACCT others(248): Show CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCTTA CCTTCCACACCCATACCTTCCACGGCCATACCTTCCACGGTCATACCTTC CGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCAC CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCACACCCTTA CCTTCCACACCCTTACCTTCCACACCCATACCTTCCACGGCCATACCTTC CACGGT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0085 a0085	a0085c0188 a0085c0188	a0085c0188t0003 a0085c0188t0003	a0085c0188t0003g0218 a0085c0188t0003g0218	1	249	0.0040	255	c.129 others(276): Show c.12943+1917_12943+1918insACCGTGGAAGGTATGGCCGTGGAA GGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTAAGGGTGTGGAAGGTAT GGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTG CGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGACCGTGGAA GGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGGGTGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776400	C C	CCATACCT others(248): Show CCATACCTTCCACACCCATACCTTCCACACCCTTACCTTCCACACCCTTA CCTTCCACACCCATACCTTCCACGGCCATACCTTCCACGGTCATACCTTC CGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCAC CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCACACCCTTA CCTTCCACACCCTTACCTTCCACACCCATACCTTCCACGGCCATACCTTC CACAGT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03704.hp1 HG03017.hp1 HG03704.hp1	a0016 a0016	a0016c0024 a0016c0024	a0016c0024t0003 a0016c0024t0003	a0016c0024t0003g0219 a0016c0024t0003g0221 a0016c0024t0003g0219 a0016c0024t0003g0221	2	249	0.0080	255	c.129 others(276): Show c.12943+1902_12943+1903insACTGTGGAAGGTATGGCCGTGGAA GGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTAAGGGTGTGGAAGGTAT GGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTG CGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGACCGTGGAA GGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTAA GGGTGTGGAAGGTATGGGTGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776430	C C	CCATACCT others(248): Show CCATACCTTCCACACCCATACCTTCCACACCCTTACCTTCCACACCCTTA CCTTCCACACCCATACCTTCCACGGCCATACCTTCCACGGCCATACCTTC CGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCAC CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCACACCCTTA CCTTCCACACCCTTACCTTCCACACCCATACCTTCCACGGCCATACCTTC CACAGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0082 a0082	a0082c0191 a0082c0191	a0082c0191t0005 a0082c0191t0005	a0082c0191t0005g0244 a0082c0191t0005g0244	1	249	0.0040	255	c.129 others(276): Show c.12943+1872_12943+1873insACTGTGGAAGGTATGGCCGTGGAA GGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTAAGGGTGTGGAAGGTAT GGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTG CGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGCCGTGGAA GGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTAA GGGTGTGGAAGGTATGGGTGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777765	C C	CCATACCT others(248): Show CCATACCTTCCACACCCATACCTTCCACACCCTTACCTTCCACACCCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACATCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTC CACAGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02602.hp1 HG01433.hp2 HG02602.hp1	a0087 a0089 a0087 a0089	a0087c0184 a0089c0182 a0087c0184 a0089c0182	a0087c0184t0003 a0089c0182t0003 a0087c0184t0003 a0089c0182t0003	a0087c0184t0003g0215 a0089c0182t0003g0223 a0087c0184t0003g0215 a0089c0182t0003g0223	2	249	0.0080	255	c.129 others(274): Show c.12943+537_12943+538insACTGTGGAAGGTATGGGTGTGGAAGG TATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGG GTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGATGTG GAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGG TATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAAGG GTGTGGAAGGTATGGGTGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777782	A A	TTACCTTC others(248): Show TTACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACC TTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCA CATCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCC ATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATACC TTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCA CACCCA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0092 a0092	a0092c0183 a0092c0183	a0092c0183t0003 a0092c0183t0003	a0092c0183t0003g0205 a0092c0183t0003g0205	1	249	0.0040	255	c.129 others(274): Show c.12943+521_12943+522insGGGTGTGGAAGGTATGGGTGTGGAAG GTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATG GGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGT GGAAGGTATGGGTGTGGAAGGTATGGATGTGGAAGGTATGGGTGTGGAAG GTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATG ACTGTGGAAGGTATGGGTGTGGAAGGTAA	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195816740	C C	CTACCGCC others(248): Show CTACCGCCGTCCCTCCAGTGCACATCCTCCTGCCCCCTGGCCTCCGCCCT TCTCCTTACGAGGTGCACAATCCTCCCTCAGCCTGGCCTCGCCTCTCCTA AGGTGCACTCCTCCTGCCCAGCCTGGCTCCGCCTCTCTTACGAGGTGCCA CATCCTCCTGCCCAGCCTGGCCTCCGCCCTTCTCCTTAGCAGGTGCCACA TCCTCCTGCCAGCTGCCACCGGCCTCCTTACCAGTGCCTCAAGGTGAGCC TATTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0100 a0002c0100	a0002c0100t0001 a0002c0100t0001	a0002c0100t0001g0121 a0002c0100t0001g0121	1	249	0.0040	255	c.-49 others(266): Show c.-4924_-4923insTGAATAGGCTCACCTTGAGGCACTGGTAAGGAGG CCGGTGGCAGCTGGCAGGAGGATGTGGCACCTGCTAAGGAGAAGGGCGGA GGCCAGGCTGGGCAGGAGGATGTGGCACCTCGTAAGAGAGGCGGAGCCAG GCTGGGCAGGAGGAGTGCACCTTAGGAGAGGCGAGGCCAGGCTGAGGGAG GATTGTGCACCTCGTAAGGAGAAGGGCGGAGGCCAGGGGGCAGGAGGATG TGCACTGGAGGGACGGCGGTA	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding		4812		chr3	TogoVar
MXRA5_chrX_3303565_3351652	3326168	T T	TTTATAAT others(248): Show TTTATAATATATAATTTATAATTATAAATTATAAATTATAATATATAATT TATATATTATAAATTTATAATATATAATTTATATATTATAAATTTATAAT ATATAATTTATATATTATAATTTATAATATATAATTTATAATTATAAGTT ATATATTATAATTTTTAATTATAAGTTATAATATATAACTTATAATTATA AGTTATAATATATAACTTATAATTATAAGTTATAATATATAACTTATAAT TATAAG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0024 a0024	a0024c0033 a0024c0033	a0024c0033t0001 a0024c0033t0001	a0024c0033t0001g0196 a0024c0033t0001g0196	1	284	0.0035	255	c.710 others(272): Show c.710-1194_710-1193insCTTATAATTATAAGTTATATATTATAAC TTATAATTATAAGTTATATATTATAACTTATAATTATAAGTTATATATTA TAACTTATAATTAAAAATTATAATATATAACTTATAATTATAAATTATAT ATTATAAATTATAATATATAAATTATATATTATAAATTTATAATATATAA ATTATATATTATAAATTTATAATATATAAATTATATATTATAATTTATAA TTTATAATTATAAATTATATATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(248): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATAATATATATTA TATAAAATATATATTATATTATATATAATATATATTATATAAAATATATA TTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	255	c.51 others(266): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATATAATATATATTATATAATATAATATATA TTTTATATAATATATATTATATATAATATAATATATATTTTATATAATAT ATATTATATATAATATAATATATATTTTATATAATATATATTATATATAA TATAATATATATTTTATATAATATATATTATATATAATATAATATATATT ATATATAATATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYO1F_chr19_8515778_8582442	8543897	C C	CTGGTGGT others(248): Show CTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGCTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGT GGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGC TGGTGG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0339 a0001c0001t0002g0339	1	342	0.0029	255	c.152 others(272): Show c.1524+399_1524+400insCCACCAGCACCACCACCACCACCACCAC CACCACCACCACCACCACCACCAGCACCACCACCACCACCACCAGCACCA CCAGCACCACCAGCACCACCACCAGCACCACCACCACCACCACCACCACC ACCACCACCACCACCACCAGCACCACCACCACCACCACCACCACCACCAC CACCACCACCACCAGCACCACCACCACCACCACCACCACCACCACCAGCA CCACCACCACCACCACCAGCACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
NAP1L5_chr4_88690913_88702829	88699285	T T	TTCCCCAC others(248): Show TTCCCCACCCACCCACCCAGCCCCACCCCACTCATCGACCCAGCTCCACC CTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACCCACCCACCC CTACCCGCTTCTTCCCCACCCACCCACCCAGCCCCACCCCACTCATCGAC CCAGCTCCACCCTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCA CCCACCCACCCCTACCCGCTTCTTCTCCACCCACCCACCCAGCCCCACCC TATTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	414	0.0024	255	c.-15 others(266): Show c.-1532_-1531insGGAATAGGGTGGGGCTGGGTGGGTGGGTGGAGAA GAAGCGGGTAGGGGTGGGTGGGTGGGGAAGAGGGTAGGGGTGGGTCGGTG GGGAAGAAGAGGGTGGAGCTGGGTCGATGAGTGGGGTGGGGCTGGGTGGG TGGGTGGGGAAGAAGCGGGTAGGGGTGGGTGGGTGGGGAAGAGGGTAGGG GTGGGTCGGTGGGGAAGAAGAGGGTGGAGCTGGGTCGATGAGTGGGGTGG GGCTGGGTGGGTGGGTGGGGA	NAP1L5	ENSG00000177432.8	transcript	ENST00000323061.7	protein_coding		1457		chr4	TogoVar
NAP1L5_chr4_88690913_88702829	88699285	T T	TTCCCCAC others(248): Show TTCCCCACCCACCCACCCAGCCCCACCCCACTCATCGACCCAGCTCCACC CTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACCCACCCACCC CTACCCGCTTCTTCTCCACCCACCCACCCAGCCCCACCCCACTCATCGAC CCAGCTCCACCCTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCA CCCACCCACCCCTACCCGCTTCTTCTCCACCCACCCACCCAGCCCCACCC TATTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	414	0.0024	255	c.-15 others(266): Show c.-1532_-1531insGGAATAGGGTGGGGCTGGGTGGGTGGGTGGAGAA GAAGCGGGTAGGGGTGGGTGGGTGGGGAAGAGGGTAGGGGTGGGTCGGTG GGGAAGAAGAGGGTGGAGCTGGGTCGATGAGTGGGGTGGGGCTGGGTGGG TGGGTGGAGAAGAAGCGGGTAGGGGTGGGTGGGTGGGGAAGAGGGTAGGG GTGGGTCGGTGGGGAAGAAGAGGGTGGAGCTGGGTCGATGAGTGGGGTGG GGCTGGGTGGGTGGGTGGGGA	NAP1L5	ENSG00000177432.8	transcript	ENST00000323061.7	protein_coding		1457		chr4	TogoVar
NDUFV3_chr21_42888309_42918299	42894351	A A	AAATATAT others(248): Show AAATATATATATATAATATATATTATATATAAATATATAATATATATTAT ATATAAATATATAATATATATAATATATATTATATATAATATATAATATA TATAATATATATAATATATAATATATAATATATATAATATATATTATAAT ATATAATATATATAATATATAATATATATTATATATAAATATATAATATA TATTATATATAAATATATAATATATAATATATATTATATATAAATATATA ATATAT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18973.hp2 NA18965.hp2 NA18973.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0044 a0003c0004t0045 a0003c0004t0044 a0003c0004t0045	a0003c0004t0044g0210 a0003c0004t0045g0209 a0003c0004t0044g0210 a0003c0004t0045g0209	2	348	0.0058	255	c.48+ others(268): Show c.48+979_48+980insATATAATATATATTATATATAAATATATAATA TATATTATATATAAATATATAATATATATAATATATATTATATATAATAT ATAATATATATAATATATATAATATATAATATATAATATATATAATATAT ATTATAATATATAATATATATAATATATAATATATATTATATATAAATAT ATAATATATATTATATATAAATATATAATATATAATATATATTATATATA AATATATAATATATAATATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NDUFV3_chr21_42888309_42918299	42894351	A A	AAATATAT others(248): Show AAATATATATATATAATATATATTATATATAAATATATAATATATATTAT ATATAAATATATAATATATATAATATATATTATGTATAATATATAATATA TATAATATATATAATATATAATATATAATATATATAATATATATTATAAT ATATAATATATATAATATATAATATATATTATATATAAATATATAATATA TATTATATATAAATATATAATATATAATATATATTATATATAAATATATA ATATAT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0211 a0003c0004t0006g0211	1	348	0.0029	255	c.48+ others(268): Show c.48+979_48+980insATATAATATATATTATATATAAATATATAATA TATATTATATATAAATATATAATATATATAATATATATTATGTATAATAT ATAATATATATAATATATATAATATATAATATATAATATATATAATATAT ATTATAATATATAATATATATAATATATAATATATATTATATATAAATAT ATAATATATATTATATATAAATATATAATATATAATATATATTATATATA AATATATAATATATAATATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NEGR1_chr1_71390943_72287539	71793264	A A	ATATATAT others(248): Show ATATATATATATATATATATATATATATATATATATATATATACACATAA TATATATATACACACACACATATATATACACATATATATTATATATACAT ATATAATATATTATATATACATATATAATATATTATATATACATATATAC ATATATATTATATATACATATATACATATATTATATATACATATATACAT ATATTATATATACATATATATACATATATATGTATGTGTGTGTATATGTG TGTGTG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0018 a0001c0001t0007g0018	1	64	0.0156	255	c.410 others(274): Show c.410-16968_410-16967insCACACACACATATACACACACATACA TATATATGTATATATATGTATATATAATATATGTATATATGTATATATAA TATATGTATATATGTATATATAATATATATGTATATATGTATATATAATA TATTATATATGTATATATAATATATTATATATGTATATATAATATATATG TGTATATATATGTGTGTGTGTATATATATATTATGTGTATATATATATAT ATATATATATATATATATATATATATATA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NOC4L_chr12_132139457_132157468	132149695	C C	CCACCGCC others(248): Show CCACCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCT CACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCTCACTCACACCACACCCCTAAT CCCCTCGGTGAGTACCACCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0013 a0013	a0013c0036 a0013c0036	a0013c0036t0001 a0013c0036t0001	a0013c0036t0001g0080 a0013c0036t0001g0080	1	294	0.0034	255	c.901 others(270): Show c.901+800_901+801insCACCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCA CTCACACCACACCCCTAATCCCCTCGGTGAGTACCACCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAG	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOP14_chr4_2932936_2968406	2961226	T T	TGTTAGTA others(248): Show TGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TAATATATAGTAACTATATTAATATATACTAACTATATTAATAATATAGT TACTATATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0222 a0002c0002t0001g0222	1	422	0.0024	255	c.195 others(272): Show c.195+1898_195+1899insTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAA TATAGTTACTATATATTAATATATAGTAACTATATTATTAATATAGTTAG TATATATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAAC	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOP14_chr4_2932936_2968406	2961226	T T	TGTTAGTA others(248): Show TGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TAATATATAGTAACTATATTAATATATACTAACTATATTAATAATATAGT TAGTATATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp2 others(137): Show HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02622.hp2 HG02683.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18951.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19055.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0011 a0015 a0018	a0001c0001 a0003c0003 a0004c0004 others(3): Show a0001c0001 a0003c0003 a0004c0004 a0011c0010 a0015c0028 a0018c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0021 a0003c0003t0001 a0003c0003t0003 a0003c0003t0025 a0004c0004t0001 a0011c0010t0018 a0011c0010t0019 a0015c0028t0002 a0018c0023t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(83): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0002g0006 a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0159 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0309 a0001c0001t0003g0168 a0001c0001t0005g0023 a0001c0001t0005g0056 a0001c0001t0005g0161 a0001c0001t0016g0214 a0001c0001t0021g0185 a0003c0003t0001g0041 a0003c0003t0001g0158 a0003c0003t0001g0197 a0003c0003t0003g0166 a0003c0003t0003g0195 a0003c0003t0025g0196 a0004c0004t0001g0191 a0011c0010t0018g0163 a0011c0010t0019g0164 a0015c0028t0002g0207 a0018c0023t0002g0215	140	422	0.3318	255	c.195 others(272): Show c.195+1898_195+1899insTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAA TATAGTTACTATATATTAATATATACTAACTATATTATTAATATAGTTAG TATATATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAAC	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOP14_chr4_2932936_2968406	2961226	T T	TGTTAGTA others(248): Show TGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TAATATATAGTAACTATATTAATATATACTAACTATATTAATAATATAGT TAGTATATATTAATATATAGTAACTATATTATTAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	422	0.0024	255	c.195 others(272): Show c.195+1898_195+1899insTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTAATAA TATAGTTACTATATATTAATATATACTAACTATATTATTAATATAGTTAG TATATATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAAC	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar

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