Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

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)

Samplehapid

No_hapid

No_samplehapid

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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
KCNH1_chr1_210673314_211139148	210718363	T T	TATATATA others(243): Show TATATATAAATATATGCATATATTTAATGCATAAATATATGCATATATTT AATACATAAATATATGCATATATTTAATACATAAATATATGCATATATTT AATACATAAATATATGCATATATTTAATACATAAATATATGCATATATTT AATACATAAATATATGCATATATTTAATACATAAATATATGCATATATTT AATACATAAATATATGCATATATTTAATACATAAATATATGCATATATTT A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02293.hp2 HG02300.hp2 others(3): Show HG00738.hp1 HG02293.hp2 HG02300.hp2 HG03710.hp2 HG04228.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001	a0001c0001t0003g0115 a0001c0001t0006g0106 a0001c0001t0006g0116 others(3): Show a0001c0001t0003g0115 a0001c0001t0006g0106 a0001c0001t0006g0116 a0001c0002t0001g0118 a0001c0002t0001g0124 a0001c0002t0001g0126	6	164	0.0366	250	c.211 others(271): Show c.2113-34226_2113-34225insTAAATATATGCATATATTTATGTA TTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTATGTA TTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTATGTA TTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTATGTA TTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTATGCA TTAAATATATGCATATATTTATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNMB2_chr3_178531436_178849429	178757984	G G	GATATATA others(243): Show GATATATATATATCCAAGAGGATATATATATATATCTCCAAGAGGATATA TATATATACACAAGAGGATATATATACACACAAGAGGATATATATATGTA CACACAAGAGGATATATATATATATATATCCAAGAGGATATATATATATA TATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATATA TATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATA T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0129 a0001c0001t0004g0129	1	232	0.0043	250	c.-67 others(269): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATATCTCC AAGAGGATATATATATATACACAAGAGGATATATATACACACAAGAGGAT ATATATATGTACACACAAGAGGATATATATATATATATATCCAAGAGGAT ATATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGAT ATATATATATATATATATCCAAGAGGATATATATATATATATATATCCAA GAGGATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758165	G G	GATATATA others(243): Show GATATATATATATATATATCCAAGAGGATATATATATATATATATATCCA AGAGGATATATATATATATATATATCCAAGAGGATATATATATATATATA TATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATATA TATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATA TATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATA T	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18992.hp1 NA18949.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0176 a0001c0001t0003g0173 a0001c0001t0003g0176	2	232	0.0086	250	c.-67 others(269): Show c.-67-49162_-67-49161insATCCAAGAGGATATATATATATATAT ATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATAT ATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATAT ATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGAT ATATATATATATATATATCCAAGAGGATATATATATATATATATATCCAA GAGGATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KDM4B_chr19_4964113_5158598	5131555	A A	AGCGGGGG others(243): Show AGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGCACAGGGGAGCTGGT GGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGAGCGGGGG AGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGCAGGGAGGAGGGGGGCAG GTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGT G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01261.hp2 NA19012.hp2 HG01069.hp1 HG01261.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0262 a0001c0001t0003g0073 a0001c0001t0003g0150 a0001c0001t0001g0262 a0001c0001t0003g0073 a0001c0001t0003g0150	3	270	0.0111	250	c.178 others(265): Show c.1785+44_1785+45insCACAGGGGAGCTGGTGGCGGGGGAGGGGGG CAGGGAGGAGGGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGAGGG GGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGA GCTGGTGGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGG GGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGCAGG GAGGAGGGGGGCAGGTGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KIF25_chr6_167992671_168050091	167997457	G G	GGGGGGCG others(243): Show GGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGGAATCTGCAGAG ATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAGTCTGCAGAGG T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0206 a0001c0001t0041g0206	1	375	0.0027	250	c.-20 others(261): Show c.-2012_-2011insGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGG GGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGG GGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGT CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAGTCTGCAGAGGT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		213		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997496	A A	ATCTGCAG others(243): Show ATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGA ATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGA ATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGA GTCTGCAGAGATGGGGGGCGGGGGAGTCTGCAGAGATGGGGGCCGGGGGA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0287 a0001c0003t0015g0287	1	375	0.0027	250	c.-19 others(261): Show c.-1973_-1972insTCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGA GATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGA TGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAG ATGGGGGGCGGGGGAGTCTGCAGAGATGGGGGGCGGGGGAGTCTGCAGAG ATGGGGGCCGGGGGAG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		174		chr6	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(243): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCG GGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTG CGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGC G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0341 a0002c0002t0005g0341	1	375	0.0027	250	c.317 others(267): Show c.317+1409_317+1410insGGGGGGCGGGAACGGCGCTGCGGGGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGGGGGCGGGAACGGCGCTGCGGGG GGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGG CGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGG CGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGG	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(243): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGGCGGGAACGGCGCTGC GGGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCT GCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGC G	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA18980.hp1 NA19088.hp2 HG01358.hp1 NA18980.hp1 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0053 a0002c0002t0003 a0002c0002t0053	a0002c0002t0003g0081 a0002c0002t0003g0137 a0002c0002t0053g0030 a0002c0002t0003g0081 a0002c0002t0003g0137 a0002c0002t0053g0030	3	375	0.0080	250	c.317 others(267): Show c.317+1409_317+1410insGGGGGGCGGGAACGGCGCTGCGGGGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGGGGGCGGGAACGGCGCTGCGGG GGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGG GCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGG CGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGG	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(243): Show CGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGC GGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTG CGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGC GGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCG G	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0072 a0002c0002t0003g0072	1	375	0.0027	250	c.317 others(267): Show c.317+1409_317+1410insGGGGGGGCGGGAACGGCGCTGCGGGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGGGGCGGGAACGGCGCTGCGGGG GGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGG CGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGC GGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGG	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(243): Show CGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGC GGGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCT GCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGC G	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0095 a0002c0002t0003g0095	1	375	0.0027	250	c.317 others(267): Show c.317+1409_317+1410insGGGGGGGCGGGAACGGCGCTGCGGGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGGGGGCGGGAACGGCGCTGCGGG GGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGG GCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGG CGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KLHL23_chr2_169728832_169756878	169750102	A A	ATACGTAT others(243): Show ATACGTATGTATGTATACATATATGTGTATATATACGTATGTATGTATAC ATATATGTGTATATATACGTATGTATGTATACATATATGTGTATATATAC GTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATAT ATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTGT GTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATGT G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0001 a0001c0001t0090g0001	1	400	0.0025	250	c.37 others(259): Show c.370_*371insTACGTATGTATGTATACATATATGTGTATATATACG TATGTATGTATACATATATGTGTATATATACGTATGTATGTATACATATA TGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTGTG TATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATGTG TATATATACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATG TATACATATATGTG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	371		chr2	TogoVar
KLHL23_chr2_169728832_169756878	169750102	A A	ATATACGT others(243): Show ATATACGTATGTATGTATACATATATGTGTATATATACGTATGTATGTAT ACATATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATAT ACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACAT ATATGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTGT GTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATGT G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0002 a0001c0001t0099g0002	1	400	0.0025	250	c.37 others(259): Show c.370_*371insTATACGTATGTATGTATACATATATGTGTATATATA CGTATGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATA TATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTG TGTATGTATACATATATGTATATATACGTGTGTATGTATACATATATGTG TATATATACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATG TATACATATATGTG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	371		chr2	TogoVar
KLHL23_chr2_169728832_169756878	169750102	A A	ATATGTAT others(243): Show ATATGTATGTATGTATACATATATGTGTATATATACGTATGTATGTATAC ATATATGTGTATATATACGTATGTATGTATACATATATGTGTATATATAC GTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATAT ATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTGT GTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATGT G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0100 a0001c0001t0077g0100	1	400	0.0025	250	c.37 others(259): Show c.370_*371insTATGTATGTATGTATACATATATGTGTATATATACG TATGTATGTATACATATATGTGTATATATACGTATGTATGTATACATATA TGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTGTG TATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATGTG TATATATACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATG TATACATATATGTG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	371		chr2	TogoVar
KLHL23_chr2_169728832_169756878	169750104	A A	ATACGTAT others(243): Show ATACGTATGTATGTATACATATATGTGTATATATACGTATGTATGTATAC ATATATGTGTATATATACGTATGTATGTATACATATATGTGTATATATAC GTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATAT ATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTGT GTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATGT G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0082 a0001c0001t0068g0082	1	400	0.0025	250	c.37 others(259): Show c.374_*375insCGTATGTATGTATACATATATGTGTATATATACGTA TGTATGTATACATATATGTGTATATATACGTATGTATGTATACATATATG TGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTGTGTA TGTATACATATATGTGTATATATACGTGTGTATGTATACATATATGTGTA TATATACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTA TACATATATGTGTA	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	375	INFO_REALIGN_3_PRIME	chr2	TogoVar
LCE1F_chr1_152770140_152782024	152775938	T T	TTCCAATA others(243): Show TTCCAATAGAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02809.hp2 HG02280.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	2	438	0.0046	250	c.-22 others(265): Show c.-22-398_-22-397insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTCCAATAGAAATTT	LCE1F	ENSG00000240386.4	transcript	ENST00000334371.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
LMF2_chr22_50497949_50512702	50504140	A A	ACCCCCCC others(243): Show ACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCCGCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTC CACACCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCC C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0001 a0003c0024t0001	a0003c0024t0001g0205 a0003c0024t0001g0205	1	414	0.0024	250	c.171 others(267): Show c.1718+199_1718+200insGGGGTGTGGAGCCCGGGGTGCAGGGGTA AGGCCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAG GCCGGGCACTGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGG GCACCGGGGGGGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAG GCCGGGCACCGGCGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LRRC14B_chr5_186495_201334	194146	A A	ACTGTCCT others(243): Show ACTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCAGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02109.hp1 HG02258.hp2 others(15): Show HG01261.hp1 HG02109.hp1 HG02258.hp2 HG02451.hp1 HG02572.hp1 HG02615.hp2 HG02809.hp2 HG02896.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03453.hp1 HG03579.hp1 NA18522.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0003 a0001c0002t0006 others(5): Show a0001c0001t0013 a0001c0002t0003 a0001c0002t0006 a0001c0002t0012 a0001c0002t0018 a0001c0002t0030 a0001c0002t0033 a0001c0002t0035	a0001c0001t0013g0003 a0001c0002t0003g0003 a0001c0002t0006g0003 others(6): Show a0001c0001t0013g0003 a0001c0002t0003g0003 a0001c0002t0006g0003 a0001c0002t0012g0003 a0001c0002t0012g0042 a0001c0002t0018g0003 a0001c0002t0030g0003 a0001c0002t0033g0003 a0001c0002t0035g0003	18	470	0.0383	250	c.900 others(265): Show c.900-519_900-518insTGACATTCTGTCCTGTGGTCTCACTGCCCC CCGCCGTCTGCTTTCTGAGCTGACATTCTGTCCTGTGGTCTCACTGCCCC CCGCCGTCTGCTTTCTGAGCAGACATTCTGTCCTGTGGTCTCACTGCCCC CCGCCGTCTGCTTTCTGAGCTGACATTCTGTCCTGTGGTCTCACTGCCCC CCGCCGTCTGCTTTCTGAGCTGACATTCTGTCCTGTGGTCTCACTGCCCC CCGCCGTCTGCTTTCTGAGC	LRRC14B	ENSG00000185028.4	transcript	ENST00000328278.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
LRRC27_chr10_132327193_132386508	132364445	A A	ACACCCAC others(243): Show ACACCCACACTTACACCCACGTCCACACCCTGGGGCCCCACACTCAGGCA GTCCGCGTCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCC ACACTTACACCCACACTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACGCTTACATCTACCTCCACGCCCACACTTACACTC ATGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC C	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	290	0.0035	250	c.129 others(267): Show c.1290-969_1290-968insTACACCCACGTCCACACCCTGGGGCCCC ACACTCAGGCAGTCCGCGTCCACGCTTACATCTACCTCCACACCCACACT TACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACA CTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCA CACTTACACTCATGCTTACATCTACCTCCACACCCACACTCACACCCACC CACACTTACACCCACCCACACT	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC36_chr16_67321815_67390204	67341007	G G	GTATTCTA others(243): Show GTATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp2 HG04115.hp1 others(1): Show HG02055.hp1 HG02965.hp2 HG04115.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0170 a0001c0001t0001g0173 others(1): Show a0001c0001t0001g0113 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0177	4	194	0.0206	250	c.71- others(263): Show c.71-766_71-765insGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATA	LRRC36	ENSG00000159708.18	transcript	ENST00000329956.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
LUC7L_chr16_183990_234449	186748	G G	GAGGAACA others(243): Show GAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGC GACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGAGGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	350	0.0029	250	c.24 others(261): Show c.2449_*2450insTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTT CCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCT GTTCCCTCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTC GCTGTTCCCTCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGT GTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCC CCGTGTCGCTGTTCCT	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2241		chr16	TogoVar
MCC_chr5_113017106_113493453	113333838	T T	TATATGTA others(243): Show TATATGTATATATGTACATATATGTATATATGTATATATGTATATATGTA CATATATGTATATATGTATATATGTACACATGTACATATATGTACATATG TATATATGTACATATATGTACATATGTACATATATGTACATATATGTACA TATATGTACATATATGTACATATATGTACATATGTATATATGTACATATA TGTACATATATGTACATATGTATATATGTACATATATGTACATATATGTA C	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0065 a0001c0008t0003g0065	1	160	0.0063	250	c.627 others(267): Show c.627+6680_627+6681insGTACATATATGTACATATATGTACATAT ATACATATGTACATATATGTACATATATGTACATATATACATATGTACAT ATATGTACATATATGTACATATATGTACATATATGTACATATATGTACAT ATGTACATATATGTACATATATACATATGTACATATATGTACATGTGTAC ATATATACATATATACATATATGTACATATATACATATATACATATATAC ATATATGTACATATATACATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(243): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02132.hp1 NA18990.hp1 others(2): Show HG00738.hp1 HG02132.hp1 NA18990.hp1 NA19070.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0001g0065 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0004g0109	5	181	0.0276	250	c.107 others(269): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCC	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MLPH_chr2_237482251_237560322	237545200	T T	TGGGGACA others(243): Show TGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTG AGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAG TGGTTAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAGG GGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGG GGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGG A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0013 a0005c0004t0001g0013	1	286	0.0035	250	c.154 others(269): Show c.1540-1386_1540-1385insGGACAGTGGTGAGTGGGGGGACAGTG GTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGA CAGTGGTTAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGG AGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAG TGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAG TGGAGGGGACAGTGGTGAGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MPPED1_chr22_43407014_43512848	43432661	A A	AGAGAGAG others(243): Show AGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGA GAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAG AGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGA G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	250	0.0040	250	c.225 others(267): Show c.225-2366_225-2365insGGAAAGAGAGAAGGGGAGGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAA AGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGA TAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG GAGAGAGAAAGGGAGGAGAGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432754	A A	AGAGAGAG others(243): Show AGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGA G	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA18522.hp2 HG01433.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0003t0002 a0001c0002t0005 a0001c0003t0002	a0001c0002t0005g0245 a0001c0003t0002g0241 a0001c0002t0005g0245 a0001c0003t0002g0241	2	250	0.0080	250	c.225 others(267): Show c.225-2277_225-2276insAGAGAAAGGGAGGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGAAAGGGAGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MUC6_chr11_1007823_1041718	1009496	C C	AGCGCCAG others(243): Show AGCGCCAGGGTCTGGAGGGGCGGCCCCGGGGGACACGCTGCCCGCGACCC CGCGCCAGGGTCTGGAGGGGCGGCCCCGGGGGACACGCAGCCCGCGACCC AGCGCCAGGGTCTGGAGGGGCGGCCCCGGGGGACACGCTGCCCGCGACCC CGCGCCAGGGTCTGGAGGGGCGGCCCCGGGGGACACGCAGCCCGCGACCC AGCGCCAGGGTCTGGAGGGGCGGCCCCGGGGGACACGCTGCCCGCGACCC C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18995.hp2 NA18989.hp1 NA18995.hp2	a0007 a0146 a0007 a0146	a0007c0010 a0146c0122 a0007c0010 a0146c0122	a0007c0010t0001 a0146c0122t0001 a0007c0010t0001 a0146c0122t0001	a0007c0010t0001g0008 a0146c0122t0001g0119 a0007c0010t0001g0008 a0146c0122t0001g0119	2	406	0.0049	250	c.39 others(261): Show c.3960_*3961insGGGTCGCGGGCAGCGTGTCCCCCGGGGCCGCCCC TCCAGACCCTGGCGCTGGGTCGCGGGCTGCGTGTCCCCCGGGGCCGCCCC TCCAGACCCTGGCGCGGGGTCGCGGGCAGCGTGTCCCCCGGGGCCGCCCC TCCAGACCCTGGCGCTGGGTCGCGGGCTGCGTGTCCCCCGGGGCCGCCCC TCCAGACCCTGGCGCGGGGTCGCGGGCAGCGTGTCCCCCGGGGCCGCCCC TCCAGACCCTGGCGCT	MUC6	ENSG00000184956.16	transcript	ENST00000421673.7	protein_coding		3327		chr11	TogoVar
MUC6_chr11_1007823_1041718	1009546	A A	AGCGCCAG others(243): Show AGCGCCAGGGTCTGGAGGGGCGGCCCCGGGGGACACGCAGCCCGCGACCC AGCGCCAGGGTCTGGAGGGGCGGCCCCGGGGGACACGCAGCCCGCGACCC AGCGCCAGGGTCTGGAGGGGCGGCCCCGGGGGACACGCTGCCCGCGACCC CGCGCCAGGGTCTGGAGGGGCGGCCCCGGGGGACACGCAGCCCGCGACCC AGCGCCAGGGTCTGGAGGGGCGGCCCCGGGGGACACGCTGCCCGCGACCC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0149 a0149	a0149c0133 a0149c0133	a0149c0133t0001 a0149c0133t0001	a0149c0133t0001g0132 a0149c0133t0001g0132	1	406	0.0025	250	c.39 others(261): Show c.3909_*3910insGGGGTCGCGGGCAGCGTGTCCCCCGGGGCCGCCC CTCCAGACCCTGGCGCTGGGTCGCGGGCTGCGTGTCCCCCGGGGCCGCCC CTCCAGACCCTGGCGCGGGGTCGCGGGCAGCGTGTCCCCCGGGGCCGCCC CTCCAGACCCTGGCGCTGGGTCGCGGGCTGCGTGTCCCCCGGGGCCGCCC CTCCAGACCCTGGCGCTGGGTCGCGGGCTGCGTGTCCCCCGGGGCCGCCC CTCCAGACCCTGGCGC	MUC6	ENSG00000184956.16	transcript	ENST00000421673.7	protein_coding		3276		chr11	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(243): Show TAATATATATTATATATATAATATATAATATATATAATATATATTATATA TATAATATATATTATATATTATATATTATAATATATAATATATATTATAT ATATAATATATATTATATATAATATATATTATATATATAATATATATTAT ATATTATATATTATAATATATAATATATATTATATATATAATATATATTA TATATAATATATATTATATATATAATATATATTATATATATTTTAAATAT A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	334	0.0030	250	c.547 others(267): Show c.5473-422_5473-421insTATATTTAAAATATATATAATATATATT ATATATATAATATATATTATATATAATATATATTATATATATAATATATA TTATATATTATAATATATAATATATAATATATATTATATATATAATATAT ATTATATATAATATATATTATATATATAATATATATTATATATTATAATA TATAATATATAATATATATTATATATATAATATATATTATATATATTATA TATTATATATATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYT1_chr20_64159452_64247253	64175045	G G	GTAGTTGT others(243): Show GTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTCCTGCAGCATCTTTC CTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCT GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCT GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCT GTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTCCTGCAGCATCTTTC C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	223	0.0045	250	c.-99 others(269): Show c.-99+10333_-99+10334insGTCTCCTCCTGCAGCATCTTTCCTAG TTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAG TTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAG TTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAG TTGTGTCCATTTCCCCTCCCTGGCGTCTCCTCCTGCAGCATCTTTCCTAG TTGTGTCCATTTCCCCTCCCTGGC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NCAM2_chr21_20993409_21548329	21265015	T T	TTATATAT others(243): Show TTATATATGTGTATGTGTATATATACACATATATATTATATATGTGTATG TGTATATATACACATATATATTATATATGTGTATGTGTATATATATACAC ATATATATTATATATGTGTATGTGTATATATAAACACATATATATTATAT ATGTGTATATGTATATATACACATATATATTATATATATATGTGTCTGTA TATATATACACATATATATTATATATATGTGTCTGTGTATATATATACAC A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0004 a0002c0009t0004	a0002c0009t0004g0115 a0002c0009t0004g0115	1	132	0.0076	250	c.56- others(267): Show c.56-15552_56-15551insATGTGTATATATACACATATATATTATA TATGTGTATGTGTATATATACACATATATATTATATATGTGTATGTGTAT ATATATACACATATATATTATATATGTGTATGTGTATATATAAACACATA TATATTATATATGTGTATATGTATATATACACATATATATTATATATATA TGTGTCTGTATATATATACACATATATATTATATATATGTGTCTGTGTAT ATATATACACATATATATGTGT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAPH2_chr22_50503224_50529780	50504140	A A	ACCCCCCC others(243): Show ACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCCGCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTC CACACCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	384	0.0026	250	c.-41 others(261): Show c.-4198_-4197insCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGC ACCCCGGGCTCCACACCCCCCCCCCGCCGGTGCCCGGCCTTACCCCTGCA CCCCGGGCTCCACACCCCCCCCCCCCCCCCCCCGGTGCCCGGCCTTACCC CTGCACCCCGGGCTCCACACCCCCCCCCAGTGCCCGGCCTTACCCCTGCA CCCCGGGCTCCACACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACC CCGGGCTCCACACCCC	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		4083		chr22	TogoVar
NEGR1_chr1_71390943_72287539	71793264	A A	ATATATAT others(243): Show ATATATATATATATATACATAATATATATATACACACACACATATATATA CACATATATATTATATATACATATATAATATATTATATATACATATATAA TATATTATATATACATATATACATATATATTATATATACATATATACATA TATTATATATACATATATACATATATTATATATACATATATACATATATT ATATATACATATATATACATATATATGTATGTGTGTGTATATGTGTGTGT G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02647.hp2 NA19240.hp2 HG01884.hp2 HG02647.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0028 a0001c0001t0004g0041 a0001c0001t0005g0063 a0001c0001t0004g0028 a0001c0001t0004g0041 a0001c0001t0005g0063	3	64	0.0469	250	c.410 others(269): Show c.410-16968_410-16967insCACACACACATATACACACACATACA TATATATGTATATATATGTATATATAATATATGTATATATGTATATATAA TATATGTATATATGTATATATAATATATGTATATATGTATATATAATATA TATGTATATATGTATATATAATATATTATATATGTATATATAATATATTA TATATGTATATATAATATATATGTGTATATATATGTGTGTGTGTATATAT ATATTATGTATATATATATATATA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71793264	A A	ATATATAT others(243): Show ATATATATATATATATACATAATATATATATACACACACACATATATATA CACATATATATTATATATACATATATAATATATTATATATATATATATAA TATATTATATATACATATATACATATATATTATATATACATATATACATA TATTATATATACATATATACATATATTATATATACATATATACATATATT ATATATACATATATATACATATATATGTATGTGTGTGTATATGTGTGTGT G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01071.hp1 HG01433.hp1 others(4): Show HG00597.hp2 HG01071.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01993.hp2 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0019 a0001c0001t0001 a0001c0001t0016 a0001c0001t0019	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 others(4): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0016g0020 a0001c0001t0019g0046	7	64	0.1094	250	c.410 others(269): Show c.410-16968_410-16967insCACACACACATATACACACACATACA TATATATGTATATATATGTATATATAATATATGTATATATGTATATATAA TATATGTATATATGTATATATAATATATGTATATATGTATATATAATATA TATGTATATATGTATATATAATATATTATATATATATATATAATATATTA TATATGTATATATAATATATATGTGTATATATATGTGTGTGTGTATATAT ATATTATGTATATATATATATATA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71928129	C C	CATATGTA others(243): Show CATATGTATATATGTATATATACACACACATGTGTATATACACATATGTA TATATGTATATATACACACACATGTGTATATACACATATGTATATATGTA TATATACACACACATGTGTATATACACATATGTATATATGTATATATACA CACATATGTGTATATACACATATGTATATATGTATATATACACACATATG TGTATATACACATATGTATATATGTATATATACACACATATGTATATACG T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0027	1	64	0.0156	250	c.409 others(267): Show c.409+6949_409+6950insACGTATATACATATGTGTGTATATATAC ATATATACATATGTGTATATACACATATGTGTGTATATATACATATATAC ATATGTGTATATACACATATGTGTGTATATATACATATATACATATGTGT ATATACACATGTGTGTGTATATATACATATATACATATGTGTATATACAC ATGTGTGTGTATATATACATATATACATATGTGTATATACACATGTGTGT GTATATATACATATATACATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NFATC1_chr18_79390930_79534323	79427386	A A	AGTGGGTA others(243): Show AGTGGGTAGGGGGGAGCTGGACGGCTGGCCTCTGTGCGGTGGGTAGGGGG GAGCTGGACGGCTGGCCTCTGTGCGGTGGGTGGGGGGGAGCTGGACGGCT GGCCTCTGTGCAGTGGGTGGGGGGAGCTGGACGGCTGGCCTCTGTGCAGT GGGTCGGGGGGAGCTGGATGGCTGGCCTCTGTGCAGCGGGTGGGGGAGAG CTGGACAGCTGGCCTCTGTGCGGTGGAGGCTGGACGGCTGGCCTCTGTGC G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0227 a0002c0002t0001g0227	1	322	0.0031	250	c.122 others(269): Show c.1227-6187_1227-6186insAGGGGGGAGCTGGACGGCTGGCCTCT GTGCGGTGGGTAGGGGGGAGCTGGACGGCTGGCCTCTGTGCGGTGGGTGG GGGGGAGCTGGACGGCTGGCCTCTGTGCAGTGGGTGGGGGGAGCTGGACG GCTGGCCTCTGTGCAGTGGGTCGGGGGGAGCTGGATGGCTGGCCTCTGTG CAGCGGGTGGGGGAGAGCTGGACAGCTGGCCTCTGTGCGGTGGAGGCTGG ACGGCTGGCCTCTGTGCGGTGGGT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC2_chr20_51381963_51547719	51500818	A A	ACCACCCC others(243): Show ACCACCCCCCACCACCCCCACCCTCACCCCCACCCCACCCTCACCCCCAC CCCACCCTCACCCTCACCCCACCCCCACCCTCACCCCCACCCCACCCTCA CCCCCACTACCCCCACCCTCACCCCACCCTCACCCTCACCCCCACCCCAC CCTCACCCTCACCCCACCCTCACCCTCACCCCCACCCCACCCCCACCCCA CCCCCACCCTCACCCTCACCCCCATCCTCACCCTCACCCTCACCCCCACC C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0209 a0001c0002t0002g0209	1	316	0.0032	250	c.133 others(271): Show c.1332+15965_1332+15966insGGGTGGGGGTGAGGGTGAGGGTGA GGATGGGGGTGAGGGTGAGGGTGGGGGTGGGGTGGGGGTGGGGTGGGGGT GAGGGTGAGGGTGGGGTGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGAGG GTGGGGTGAGGGTGGGGGTAGTGGGGGTGAGGGTGGGGTGGGGGTGAGGG TGGGGGTGGGGTGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGTGGGG GTGAGGGTGGGGGTGGTGGGGGGTGG	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	3/10			chr20	TogoVar
NINJ2_chr12_559296_668445	577423	A A	ATATACAT others(243): Show ATATACATATATATATGTATATATATATACACATATATATATGTATATAT ATATATACATATATATATGTATATATATATATACATATATATATGTGTAT ATATATATACATATATATATGTATATATATATACATATATATATGTATAT ATATATACATATATATATGTATATATATATATACATATATATATGTATAT ATATATACATATATATATGTGTGTATATATATATATATACATATATATAT G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	404	0.0025	250	c.34- others(267): Show c.34-11246_34-11245insCATATATATATGTATATATATATATATA CACACATATATATATGTATATATATATACATATATATATGTATATATATA TATACATATATATATGTATATATATATACATATATATATGTATATATATA TACATATATATATGTATATATATATACACATATATATATGTATATATATA TATACATATATATATGTATATATATATATACATATATATATGTGTATATA TATATACATATATATATGTATA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NRIP1_chr21_14956235_15070000	15030905	C C	CACATTCC others(243): Show CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGGTTGGAGGATCAC TACCTTCCCCTTCTATGTGTGTACACTCTGGAAGGCGTTCGGAGGATCAC CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGATCAC CCCATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGGTCAC T	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03688.hp1 HG03490.hp2 HG03492.hp1 HG03688.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0003 a0002c0003t0003g0048 a0002c0003t0003g0003 a0002c0003t0003g0048	3	398	0.0075	250	c.-45 others(271): Show c.-458+12589_-458+12590insAGTGACCCTCCGAGCGCCTTCCAG AGTGTACACACATAGAAAGGGAATGGGGTGATCCTCCGAGCGCCTTCCAG AGTGTACACACATAGAAAGGGAATGTGGTGATCCTCCGAACGCCTTCCAG AGTGTACACACATAGAAGGGGAAGGTAGTGATCCTCCAACCGCCTTCCAG AGTGTATACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAG AGTGTATACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15030905	C C	CACATTCC others(243): Show CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGGTCAC T	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0259 a0001c0002t0014g0259	1	398	0.0025	250	c.-45 others(271): Show c.-458+12589_-458+12590insAGTGACCCTCCGAGCGCCTTCCAG AGTGTACACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAG AGTGTACACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAG AGTGTATACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAG AGTGTATACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAG AGTGTACACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031026	T T	TACACTCT others(243): Show TACACTCTGGAAGGTGTTCAGAGGTTCACCACATTCCCTTTCTATGTGTA TACTCTGGAAGGCGGTTGGAGGTTCACTACATTCCCTTTCTATGTGTATA CACTCTGGAAGGCGCACGGAGGATCACCACATTCCCTTTCTATGTGTGTA CACTCTGGAAGGCGTTCAGAGGTTCACCACATTCCCTTTCTATGTGTATA CACTCTGGAAGGTGGTTGGAGGTTCACCACATTCCCTTTCTATGTGTATA C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02145.hp2 HG02280.hp2 others(7): Show HG01192.hp1 HG02145.hp2 HG02280.hp2 HG02630.hp2 HG02717.hp2 HG02965.hp1 HG03225.hp1 HG03225.hp2 HG06807.hp1 NA18522.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0002 a0012c0012 a0001c0001 a0001c0002 a0012c0012	a0001c0001t0001 a0001c0002t0008 a0001c0002t0023 others(1): Show a0001c0001t0001 a0001c0002t0008 a0001c0002t0023 a0012c0012t0049	a0001c0001t0001g0162 a0001c0001t0001g0177 a0001c0001t0001g0178 others(7): Show a0001c0001t0001g0162 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0355 a0001c0001t0001g0370 a0001c0002t0008g0175 a0001c0002t0008g0176 a0001c0002t0023g0174 a0012c0012t0049g0182	10	398	0.0251	250	c.-45 others(271): Show c.-458+12468_-458+12469insGTATACACATAGAAAGGGAATGTG GTGAACCTCCAACCACCTTCCAGAGTGTATACACATAGAAAGGGAATGTG GTGAACCTCTGAACGCCTTCCAGAGTGTACACACATAGAAAGGGAATGTG GTGATCCTCCGTGCGCCTTCCAGAGTGTATACACATAGAAAGGGAATGTA GTGAACCTCCAACCGCCTTCCAGAGTATACACATAGAAAGGGAATGTGGT GAACCTCTGAACACCTTCCAGAGTGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031103	C C	CACATTCC others(243): Show CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGGTCAC TACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGGTTGGAGGTTCAC T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01109.hp2 HG02080.hp2 others(5): Show HG00609.hp2 HG01109.hp2 HG02080.hp2 NA18954.hp2 NA18977.hp1 NA19054.hp2 NA19084.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0035 a0001c0002t0005 a0001c0002t0008 others(1): Show a0001c0001t0035 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009	a0001c0001t0035g0265 a0001c0002t0005g0055 a0001c0002t0005g0056 others(5): Show a0001c0001t0035g0265 a0001c0002t0005g0055 a0001c0002t0005g0056 a0001c0002t0008g0266 a0001c0002t0008g0267 a0001c0002t0008g0268 a0001c0002t0008g0269 a0001c0002t0009g0064	8	398	0.0201	250	c.-45 others(271): Show c.-458+12391_-458+12392insAGTGAACCTCCAACCGCCTTCCAG AGTGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAG AGTGTATACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAG AGTGTACACACATAGAAAGGGAATGTAGTGACCCTCCGAGCGCCTTCCAG AGTGTACACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAG AGTGTACACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031398	A A	ATCACCAC others(243): Show ATCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGG ATCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGG ATCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGG ATCACCACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGTTCAGAGG TTCACCACATTCCCTTTCTATGTATATACACTCTGGAAGGCGGTTGGAGG T	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02074.hp2 HG02083.hp2 others(7): Show HG01934.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02572.hp1 HG02717.hp1 HG03490.hp1 NA18939.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0005 a0001c0002t0023 others(1): Show a0001c0001t0001 a0001c0002t0005 a0001c0002t0023 a0001c0004t0052	a0001c0001t0001g0073 a0001c0001t0001g0136 a0001c0001t0001g0143 others(7): Show a0001c0001t0001g0073 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0002t0005g0133 a0001c0002t0023g0155 a0001c0004t0052g0384	10	398	0.0251	250	c.-45 others(271): Show c.-458+12096_-458+12097insACCTCCAACCGCCTTCCAGAGTGT ATATACATAGAAAGGGAATGTGGTGAACCTCTGAACGCCTTCCAGAGTGT ACACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAGTGT ATACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAGTGT ATACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAGTGT ATACACATAGAAAGGGAATGTGGTGA	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NUTM2F_chr9_94313198_94333644	94313219	T T	TATAATAT others(243): Show TATAATATATATTATATAATATAAATATATTATATATTATATATTACATA ATATATATTATATAAATATTATATATATATTATATATATGATATAATATA TATATATTATATATTATATAATATATATAATATATATAATATATAATTAT ATAATAATAATATATATATTACTATAATTAATATATATATAATATATATT ATATAATATATAATATAATATATATTATATAATATATTATATATTATATA A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	322	0.0031	250	c.52 others(261): Show c.5245_*5246insTTATATAATATATAATATATTATATAATATATAT TATATTATATATTATATAATATATATTATATATATATTAATTATAGTAAT ATATATATTATTATTATATAATTATATATTATATATATTATATATATTAT ATAATATATAATATATATATATTATATCATATATATAATATATATATAAT ATTTATATAATATATATTATGTAATATATAATATATAATATATTTATATT ATATAATATATATTAT	NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding		4978		chr9	TogoVar
OBI1_chr13_78609289_78664155	78659327	A A	AGAAAGAA others(243): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAAGAAAGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	296	0.0034	250	c.-20 others(259): Show c.-208_-207insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		173		chr13	TogoVar
OR2T2_chr1_248440637_248460725	248454358	G G	GCCTGCCT others(243): Show GCCTGCCTGTATTGCTGACGTGTGATCATGAGTCCTGCCTGTCTGTATTG CTTAACGTGTGATGAGTCCTTCTGTGTCTGTATTGCTAACGTGTGATCGT GAGTCCTTCCTGTCTGTATTGCTAACGTGTGATCATGAGTCCTGCCTGCC TGTATTGCTGACGTGTGATCATGAGTCCTGCCTGTCTGTATTGCTTAACG TGTGATGAGTCCTTCTGTGTCTGTATTGCTAACGTGTGATCGTGAGTCCT T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0036 a0013c0018t0036	a0013c0018t0036g0092 a0013c0018t0036g0092	1	329	0.0030	250	c.59 others(259): Show c.590_*591insCCTGTATTGCTGACGTGTGATCATGAGTCCTGCCTG TCTGTATTGCTTAACGTGTGATGAGTCCTTCTGTGTCTGTATTGCTAACG TGTGATCGTGAGTCCTTCCTGTCTGTATTGCTAACGTGTGATCATGAGTC CTGCCTGCCTGTATTGCTGACGTGTGATCATGAGTCCTGCCTGTCTGTAT TGCTTAACGTGTGATGAGTCCTTCTGTGTCTGTATTGCTAACGTGTGATC GTGAGTCCTTCCTG	OR2T2	ENSG00000196240.6	transcript	ENST00000641925.2	protein_coding	4/4	591	INFO_REALIGN_3_PRIME	chr1	TogoVar
OR4F5_chr1_60419_76585	66264	A A	ATATATTA others(243): Show ATATATTATATATATTATATATATAATATATATAATATATATAATATAAT ATATTTTATATATATATAATATAATATATATATATTTTATATATATATTA TATATATAATATATATATTATATATATAATATATATATAATATAATATAA TATAATATATTATATTATATAATATATGATATAAATATAATATATATTTT ATTATATAATATAATATATATAATATAATATATATTATATAAATATAATA T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0015 a0003c0013t0015	a0003c0013t0015g0046 a0003c0013t0015g0046	1	215	0.0047	250	c.9+6 others(261): Show c.9+691_9+692insTATATTATATATATTATATATATAATATATATAA TATATATAATATAATATATTTTATATATATATAATATAATATATATATAT TTTATATATATATTATATATATAATATATATATTATATATATAATATATA TATAATATAATATAATATAATATATTATATTATATAATATATGATATAAA TATAATATATATTTTATTATATAATATAATATATATAATATAATATATAT TATATAAATATAATAT	OR4F5	ENSG00000186092.7	transcript	ENST00000641515.2	protein_coding	2/2			chr1	TogoVar
OTOF_chr2_26452203_26483124	26476489	C C	CCCTTCCC others(243): Show CCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCC TTCCCCACCTCCTTCCCCATCCCTTCCCCACCCCTTCCCCCACCTCCTTC CCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCC CACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCA CCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACG T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	330	0.0030	250	c.436 others(265): Show c.436-173_436-172insACGTGGGGGAAGGGGTGGGGAAGGAGGTGG GGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGG GAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAA GGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGG GATGGGGAAGGAGGTGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGT GGGGGAAGGGGTGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26483124	26476529	C C	CCCCCACC others(243): Show CCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCC CCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCC ACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCAC CTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCC CTTCCCCCACGTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCT T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0012 a0012	a0012c0036 a0012c0036	a0012c0036t0001 a0012c0036t0001	a0012c0036t0001g0162 a0012c0036t0001g0162	1	330	0.0030	250	c.436 others(265): Show c.436-213_436-212insAAGGGGTGGGGAAGGAGGTGGGGGAAGGGG TGGGGAAGGACGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTG GGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGG GGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGG AAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGGGTGGGGAAGG AGGTGGGGGAAGGGGTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476489	C C	CCCTTCCC others(243): Show CCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCC TTCCCCACCTCCTTCCCCATCCCTTCCCCACCCCTTCCCCCACCTCCTTC CCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCC CACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCA CCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACG T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	284	0.0035	250	c.267 others(267): Show c.2677-173_2677-172insACGTGGGGGAAGGGGTGGGGAAGGAGGT GGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGG GGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGG AAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAA GGGATGGGGAAGGAGGTGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAG GTGGGGGAAGGGGTGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476529	C C	CCCCCACC others(243): Show CCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCC CCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCC ACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCAC CTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCC CTTCCCCCACGTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCT T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0022 a0022	a0022c0047 a0022c0047	a0022c0047t0006 a0022c0047t0006	a0022c0047t0006g0012 a0022c0047t0006g0012	1	284	0.0035	250	c.267 others(267): Show c.2677-213_2677-212insAAGGGGTGGGGAAGGAGGTGGGGGAAGG GGTGGGGAAGGACGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGG TGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTG GGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGG GGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGGGTGGGGAA GGAGGTGGGGGAAGGGGTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar

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