Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SHISA5_chr3_48462876_48509174	48486242	A A	ATATTATA others(204): Show ATATTATATACTATATATATATTATATATTATATACTATATATATTATAT ATAATATAGTATATATTATATAATATATAATATAGTATATATTATATAAT ATATACTATATTATATATTATATATAATACATTATATGTTATATAACATA TAATGTATTATATATTATATGTTATATAATATATAATACATTATGTTATA TAACATATAATG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02895.hp2 HG02896.hp2 HG02630.hp1 HG02895.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085	3	290	0.0103	211	c.234 others(228): Show c.234-6986_234-6985insCATTATATGTTATATAACATAATGTATT ATATATTATATAACATATAATATATAATACATTATATGTTATATAACATA TAATGTATTATATATAATATATAATATAGTATATATTATATAATATATAC TATATTATATATTATATAATATATACTATATTATATATAATATATATAGT ATATAATATATAATATATATATAGTATATAATA		SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5						chr3	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(204): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTC CCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03471.hp1 HG02451.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0080 a0001c0001t0012g0078 a0001c0001t0004g0080 a0001c0001t0012g0078	2	214	0.0094	211	c.691 others(230): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC		SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC25A41_chr19_6421037_6438763	6429100	T T	TATATATA others(204): Show TATATATAATATATATATTATATATATGTTATATATATATATAATATATA TATTATATATATGTTACATATATATAATATATATATTATATATATGTTAT ATATATATATAATATATATATTATATATATGTTACATATATATAATATAT ATATTATATATATGTTATATATATATTACATATATATAATATATATATTA TATATATGTTAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA19091.hp1 HG00673.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0293 a0001c0001t0001g0133 a0001c0001t0001g0293	2	350	0.0057	211	c.624 others(226): Show c.624+623_624+624insGTAACATATATATAATATATATATTATATA TATGTAATATATATATAACATATATATAATATATATATTATATATATGTA ACATATATATAATATATATATTATATATATATATAACATATATATAATAT ATATATTATATATATGTAACATATATATAATATATATATTATATATATAT ATAACATATATATAATATATATATTATATAT		SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6						chr19	TogoVar
SLC2A5_chr1_9030106_9074635	9053317	A A	ATATATTT others(204): Show ATATATTTATATATATTATATATTTATATATTATATATATTTATATATAT TATATATTTATATATTATATATATTTATATATATTATATATTTATATATT ATATATATTTATATATATTATATATATTATATATTTATATATTATATATA TTTATATATTATATATATTTATATATATTATATATTTATATATTATATAT ATTTATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0038 a0001c0001t0010g0038	1	336	0.0030	211	c.293 others(228): Show c.293+4130_293+4131insATATATATAAATATATATAATATATAAA TATATAATATATATAAATATATATAATATATAAATATATATAATATATAA ATATATAATATATATAATATATATAAATATATATAATATATAAATATATA ATATATATAAATATATATAATATATAAATATATAATATATATAAATATAT ATAATATATAAATATATAATATATATAAATATA		SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11						chr1	TogoVar
SLC2A5_chr1_9030106_9074635	9053341	C C	CGATATAT others(204): Show CGATATATATTTATATATATTATATATTTATATATTATATATATTTATAT ATATTATATATTTATATATTATATATATTTATATATATTATATATTTATA TATTATATATATTTATATATATTATATATATTATATATTTATATATTATA TATATTTATATATTATATATTTATATATTATATATATTTATATATATTAT ATATTTATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp2 HG03130.hp2 others(5): Show HG01884.hp1 HG02809.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 NA18943.hp1 NA18971.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0001t0001 a0001c0001t0009 a0001c0001t0012	a0001c0001t0001g0177 a0001c0001t0009g0008 a0001c0001t0009g0033 others(4): Show a0001c0001t0001g0177 a0001c0001t0009g0008 a0001c0001t0009g0033 a0001c0001t0012g0174 a0001c0001t0012g0176 a0001c0001t0012g0184 a0001c0001t0012g0220	8	336	0.0238	211	c.293 others(228): Show c.293+4106_293+4107insATATATAAATATATAATATATATAAATA TATATAATATATAAATATATAATATATAAATATATATAATATATAAATAT ATAATATATATAATATATATAAATATATATAATATATAAATATATAATAT ATATAAATATATATAATATATAAATATATAATATATATAAATATATATAA TATATAAATATATAATATATATAAATATATATC		SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11						chr1	TogoVar
SLC35F3_chr1_233899676_234329511	234140001	A A	AAATAAAA others(204): Show AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAA AATAAAATAAAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0140 a0001c0002t0002g0140	1	158	0.0063	211	c.284 others(230): Show c.284-91415_284-91414insATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAATAAAATAAAATAAATA		SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC7A10_chr19_33203664_33230850	33218682	T T	TTTCTTTC others(204): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTC TCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	410	0.0024	211	c.152 others(228): Show c.152-2710_152-2709insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGA GAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA		SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10						chr19	TogoVar
SLC7A10_chr19_33203664_33230850	33218682	T T	TTTCTTTC others(204): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	410	0.0024	211	c.152 others(228): Show c.152-2710_152-2709insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA		SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10						chr19	TogoVar
SMAD2_chr18_47803957_47935659	47850538	T T	TTATATAT others(204): Show TTATATATATTATATATATTATGTATAATATATGTTATATATTATATATA TATTATATATATTATGTATAATATATATTATATATTATATATATATTATA TATATTATGTATAATATATATTATATATTATATATATATTATATATATTA TGTATAATATATATTATATATTATATATATATTATATATATTATGTATAA TATTATATATTA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0299 a0001c0001t0100g0299	1	310	0.0032	211	c.784 others(226): Show c.784+735_784+736insTAATATATAATATTATACATAATATATATA ATATATATATAATATATAATATATATTATACATAATATATATAATATATA TATAATATATAATATATATTATACATAATATATATAATATATATATAATA TATAATATATATTATACATAATATATATAATATATATATAATATATAACA TATATTATACATAATATATATAATATATATA		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10						chr18	TogoVar
SP100_chr2_230411201_230550606	230499512	A A	ATATATAT others(204): Show ATATATATAGATAGATATATATATTTATATATATAAATATATATATCTAG ATATATATCTATCTATATATATTTATATATATAAATATATATATTTATTT TTTTATATATAAAATATATATATTTATATATATATTTTATATATATAGAT ATATATATCTATATATTTATTTCCTTTGGCTATGAATTCCCCCACTAGAA TGGCAGAAGCAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03098.hp1 HG02723.hp1 HG03098.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0014 a0001c0007t0014	a0001c0007t0014g0031 a0001c0007t0014g0032 a0001c0007t0014g0031 a0001c0007t0014g0032	2	290	0.0069	211	c.172 others(228): Show c.1720+978_1720+979insATATATAGATAGATATATATATTTATAT ATATAAATATATATATCTAGATATATATCTATCTATATATATTTATATAT ATAAATATATATATTTATTTTTTTATATATAAAATATATATATTTATATA TATATTTTATATATATAGATATATATATCTATATATTTATTTCCTTTGGC TATGAATTCCCCCACTAGAATGGCAGAAGCAGT		SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	19/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATC1L_chr21_46156160_46189459	46161025	G G	GTGGAGGG others(204): Show GTGGAGGGGGAAGGGGGAGGGGGAAGGGGGGAGGGGGGAGGGGGAGGGGG AAGGGGGGAGGGGGAAGGGGAGGGGGGAGGGGGGAGGGGGAAGGGGAGGG GGAAGGGGGAGAGGGGAGGGGGAGGGGGGACGGGGGGAGGGGGAGGGGGA GGGGGAGGGGGGAGCGGGAACGGGGGAGGGGAGAGGGGGAGGGGGGAGGG GGAGAGGGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0198 a0001c0001t0008g0198	1	251	0.0040	211	c.35 others(220): Show c.353_*354insGCTTCCCTCTCCCCCTCCCCCCTCCCCCTCTCCCCT CCCCCGTTCCCGCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCGTCCC CCCTCCCCCTCCCCTCTCCCCCTTCCCCCTCCCCTTCCCCCTCCCCCCTC CCCCCTCCCCTTCCCCCTCCCCCCTTCCCCCTCCCCCTCCCCCCTCCCCC CTTCCCCCTCCCCCTTCCCCCTCCA		SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding					134		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161025	G G	GTGGAGGG others(204): Show GTGGAGGGGGAAGGGGGAGGGGGAAGGGGGGAGGGGGGAGGGGGAGGGGG AAGGGGGGAGGGGGAAGGGGAGGGGGGAGGGGGGAGGGGGAAGGGGAGGG GGAAGGGGGAGAGGGGAGGGGGAGGGGGGACGGGGGGGAGGGGGAGGGGG AGGGGGAGGGGGGAGCGGGAACGGGGGAGGGGAGAGGGGGAGGGGGAGGG GGAGAGGGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0201 a0001c0001t0008g0201	1	251	0.0040	211	c.35 others(220): Show c.353_*354insGCTTCCCTCTCCCCCTCCCCCTCCCCCTCTCCCCTC CCCCGTTCCCGCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCGTCCC CCCTCCCCCTCCCCTCTCCCCCTTCCCCCTCCCCTTCCCCCTCCCCCCTC CCCCCTCCCCTTCCCCCTCCCCCCTTCCCCCTCCCCCTCCCCCCTCCCCC CTTCCCCCTCCCCCTTCCCCCTCCA		SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding					134		chr21	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(204): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTT CCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTC CCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	211	c.54 others(222): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGG		SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding					3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(204): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTT CCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTC CCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	211	c.54 others(222): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAAGGGAGGGGGAGGGTGGTGG GAGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGG		SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding					3978		chr17	TogoVar
SRXN1_chr20_641615_658200	642133	G G	GGGGGGGC others(204): Show GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGAGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGC CTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGG GTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	422	0.0024	211	c.65 others(222): Show c.6580_*6581insAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGC AACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCC CCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCCCCC		SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding					4481		chr20	TogoVar
SRXN1_chr20_641615_658200	642167	G G	GGGGGCCC others(204): Show GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGG GTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	422	0.0024	211	c.65 others(222): Show c.6546_*6547insAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGG CAACCCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCC		SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding					4447		chr20	TogoVar
STOX2_chr4_183900307_184028526	183932303	G G	GTGTATAC others(204): Show GTGTATACATACATGTATATGTATGTATACATACAGTATATGTATGTATA CATACAGTATATGTATGTATACATACAGTATATGTATGTATACATACAGT ATATGTATGTATACATACAGTATATGTATGTATACATACAGTATATGTAT GTATACATACAGTATATGTATGTATACATACAGTATATGTATGTATACAT ACAGTATATGTA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03041.hp1 HG02280.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0078 a0001c0002t0007 a0001c0001t0078 a0001c0002t0007	a0001c0001t0078g0167 a0001c0002t0007g0111 a0001c0001t0078g0167 a0001c0002t0007g0111	2	318	0.0063	211	c.166 others(230): Show c.166+25359_166+25360insTGTATATGTATGTATACATACAGTAT ATGTATGTATACATACAGTATATGTATGTATACATACAGTATATGTATGT ATACATACAGTATATGTATGTATACATACAGTATATGTATGTATACATAC AGTATATGTATGTATACATACAGTATATGTATGTATACATACAGTATATG TATGTATACATACAGTATATGTATGTATACATACA		STOX2	ENSG00000173320.12	transcript	ENST00000308497.9	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr4	TogoVar
TAFA5_chr22_48484553_48756932	48620866	C C	CATCCTAT others(204): Show CATCCTATTCATCCATCCACCCACCCACACTGTCCATCCACCCACCCACC CATCCACCCACCCACCTATCCTATTCATCCATCCCCCCACCCACCCTATC TATCCACCCATCCACCTATCCTATTCATCCATCCACCCACCCACCCACAC TATCTATCCACCCATCCACCCACACTATCCATCCACCCTCCCACCCATCC ACCCACCAACCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0155 a0001c0001t0007g0155	1	258	0.0039	211	c.113 others(230): Show c.113-25713_113-25712insCCCACCCACACTGTCCATCCACCCAC CCACCCATCCACCCACCCACCTATCCTATTCATCCATCCCCCCACCCACC CTATCTATCCACCCATCCACCTATCCTATTCATCCATCCACCCACCCACC CACACTATCTATCCACCCATCCACCCACACTATCCATCCACCCTCCCACC CATCCACCCACCAACCTATCCTATTCATCCATCCA		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48735938	G G	GCACTCCT others(204): Show GCACTCCTAGAGTCCATCCCCCCAGGAGGAATGAGAATCACACTCCTAGA GTCCAGAGTCCATCCCCCCAGGAGGAATGAGAATCGCACTCCTAGAGTCC ATCCCCCGCAGGAGGAATGAGAATCACACTCCTAGAGTCCAGAGTCCATC CCCCCAGGAGGAATGAGAATCGCACTCCTAGAGTCCATCCCCCGCAGGAG GAATGAGAATCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	258	0.0039	211	c.391 others(230): Show c.391-13886_391-13885insTCCCCCCAGGAGGAATGAGAATCACA CTCCTAGAGTCCAGAGTCCATCCCCCCAGGAGGAATGAGAATCGCACTCC TAGAGTCCATCCCCCGCAGGAGGAATGAGAATCACACTCCTAGAGTCCAG AGTCCATCCCCCCAGGAGGAATGAGAATCGCACTCCTAGAGTCCATCCCC CGCAGGAGGAATGAGAATCACACTCCTAGAGTCCA		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
TARBP1_chr1_234386313_234484179	234397802	G G	GAGGGGGA others(204): Show GAGGGGGAGGAGGTGGGGGAAGAGGGGGAGGGGGGAGGGGGAAGGGGGAG GAGGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGGGGAAGGAGGGGGAAAG AGGGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGAGGAGGGAGG GGAGGGGGTAGAGGGAGGGGATGGGAGGAGGGAGGGGAGGGGGAAGAGGG GGAGGAGGTGGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02135.hp1 HG02165.hp2 others(3): Show HG00423.hp2 HG02135.hp1 HG02165.hp2 NA18947.hp1 NA18952.hp2 NA18960.hp2	a0002 a0004 a0007 others(1): Show a0002 a0004 a0007 a0009	a0002c0003 a0004c0004 a0007c0010 others(1): Show a0002c0003 a0004c0004 a0007c0010 a0009c0106	a0002c0003t0001 a0004c0004t0001 a0007c0010t0001 others(1): Show a0002c0003t0001 a0004c0004t0001 a0007c0010t0001 a0009c0106t0001	a0002c0003t0001g0054 a0004c0004t0001g0164 a0004c0004t0001g0220 others(3): Show a0002c0003t0001g0054 a0004c0004t0001g0164 a0004c0004t0001g0220 a0004c0004t0001g0221 a0007c0010t0001g0206 a0009c0106t0001g0165	6	274	0.0219	211	c.424 others(228): Show c.4243+579_4243+580insTCCACCTCCTCCCCCTCTTCCCCCTCCC CTCCCTCCTCCCATCCCCTCCCTCTACCCCCTCCCCTCCCTCCTCCCCTC CCCTCCCTCCTCCCCTCCCCTCCCTCTTCACCCTCTTTCCCCCTCCTTCC CCTCCCCCTTCTTCCCCTCTTCCCCCTCCCCCTCCTCCCCCTTCCCCCTC CCCCCTCCCCCTCTTCCCCCACCTCCTCCCCCT		TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29						chr1	TogoVar
TERT_chr5_1248167_1300068	1290934	T T	TGCCTCAC others(204): Show TGCCTCACTCACCCTGCACGGGACAGGGACACCCGGGGACGGCGCCTCAC TCACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCCT GCACGTGACAGAGACATCCGGGGACGGCGCCTCACTCACCCTGCATGGGA CAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACA CCCGGGGACGGC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0008 a0008	a0008c0039 a0008c0039	a0008c0039t0001 a0008c0039t0001	a0008c0039t0001g0385 a0008c0039t0001g0385	1	392	0.0026	211	c.157 others(230): Show c.1573+2378_1573+2379insGCCGTCCCCGGGTGTCCCTGTCACGT GCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCCCATGCAGGGTG AGTGAGGCGCCGTCCCCGGATGTCTCTGTCACGTGCAGGGGTGAGTGAGG CGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCC CCGGGTGTCCCTGTCCCGTGCAGGGTGAGTGAGGC		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1290934	T T	TGCCTCAC others(204): Show TGCCTCACTCACCCTGCACGGGACAGGGACACCGGGGACGGCGCCTCACT CACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGC ACGTGACAGAGGACATCCGGGGACGGCGCCTCACTCACCCTGCATGGGAC AGGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACA CCCGGGGACGGC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	392	0.0026	211	c.157 others(230): Show c.1573+2378_1573+2379insGCCGTCCCCGGGTGTCCCTGTCACGT GCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCCTGTCCCATGCAGGGT GAGTGAGGCGCCGTCCCCGGATGTCCTCTGTCACGTGCAGGGTGAGTGAG GCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTC CCCGGTGTCCCTGTCCCGTGCAGGGTGAGTGAGGC		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1290934	T T	TGCCTCAC others(204): Show TGCCTCACTCACCCTGCACGGGACAGGGGACACCCGGGGACGGCGCCTCA CTCACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCT GCACGTGACAGAGACATCCGGGGACGGCGCCTCACTCACCCTGCATGGGA CAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACA CCCGGGGACGGC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0210 a0001c0006t0001g0210	1	392	0.0026	211	c.157 others(230): Show c.1573+2378_1573+2379insGCCGTCCCCGGGTGTCCCTGTCACGT GCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCCCATGCAGGGTG AGTGAGGCGCCGTCCCCGGATGTCTCTGTCACGTGCAGGGTGAGTGAGGC GCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCC CGGGTGTCCCCTGTCCCGTGCAGGGTGAGTGAGGC		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1291223	G G	GACGGCGC others(204): Show GACGGCGCCTCACTCACCCTGCACGTGACAGGGACACGCGGGGACGGCGC CTCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCTCGCGTCAATCA CCCTGCACGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTACAC GTGACAGGGACACCCGGGGACCGCGCCTCACTCACCCTGAATGTGACAGG GACACCCGGGGA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	392	0.0026	211	c.157 others(230): Show c.1573+2089_1573+2090insTCCCCGGGTGTCCCTGTCACATTCAG GGTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTG AGGCACTGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTGACGCGAGG CCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGCG TGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGT		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15						chr5	TogoVar
THEG_chr19_356747_381026	376854	T T	TCCACCCA others(204): Show TCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCC CCCCCCTGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0320 a0005c0005t0004g0320	1	370	0.0027	211	c.-88 others(220): Show c.-885_-884insGGCACAGGGGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACG GGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG GCACAGAGGGGGAGAGGCTGGGTGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					829		chr19	TogoVar
THEG_chr19_356747_381026	377422	G G	GCCCCACC others(204): Show GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTG TGCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCCCCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	370	0.0027	211	c.-14 others(222): Show c.-1453_-1452insGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCAC AGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGAGAGGCTGGGTGGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1397		chr19	TogoVar
THEG_chr19_356747_381026	377528	G G	GCCCCACC others(204): Show GCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCT GTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC TCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 NA18943.hp2 HG03688.hp2 NA18943.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0056 a0003c0004t0004 a0001c0001t0056 a0003c0004t0004	a0001c0001t0056g0263 a0003c0004t0004g0293 a0001c0001t0056g0263 a0003c0004t0004g0293	2	370	0.0054	211	c.-15 others(222): Show c.-1559_-1558insGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGG GGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGG GTACAGAGGGGGAGAGGCTGGGTGGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1503		chr19	TogoVar
THEG_chr19_356747_381026	377528	G G	GCCCCACC others(204): Show GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCT CCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00735.hp1 others(6): Show HG00099.hp1 HG00099.hp2 HG00735.hp1 HG01109.hp2 HG01261.hp2 HG01433.hp1 HG03017.hp1 HG03704.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0055 a0002c0002t0001	a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 others(6): Show a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0003g0196 a0001c0001t0003g0207 a0001c0001t0007g0191 a0001c0001t0010g0204 a0001c0001t0055g0208 a0002c0002t0001g0240	9	370	0.0243	211	c.-15 others(222): Show c.-1559_-1558insGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGAGAGGCTGGGTGGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1503		chr19	TogoVar
THEG_chr19_356747_381026	377606	G G	GCCCCCAC others(204): Show GCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCTCCACCCAGCCTCTCC CCCCCCGTGCCCCACCCAGCCTCTCCCCCTCCGTGCCCCACCCAGCCTCT CCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0106 a0001c0001t0016g0106	1	370	0.0027	211	c.-16 others(222): Show c.-1637_-1636insGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGAG GGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGAGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1581		chr19	TogoVar
TM4SF19_chr3_196318547_196343388	196335076	A A	ACTGGGAG others(204): Show ACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGG GTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAG GGATGCCCTGAGAAGGTGGGGGTTGGAGAGGGGAGGGGTGCTCTGGGAGG GTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTGGAGAG GGGAGGGGTGCT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	2	370	0.0054	211	c.-2+ others(226): Show c.-2+3187_-2+3188insAGCACCCCTCCCCTCTCCAACCCCCACCTT CTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGAGCACCCCTC CCCTCTCCAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACCC ACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCA TCCCTTCCCTCTCCTACACCCACCCTCCCAG		TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4						chr3	TogoVar
TMPRSS9_chr19_2355265_2431261	2418476	C C	CCTCCCTT others(204): Show CCTCCCTTTCCTTCCCTTCCCTCCCTACCTTTCCTTTCCTTCCCTCCCTC CCTTTCCTTCCCTGCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTT CCTTCCCTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTTTCCTTTCCTTC CCTCCCTCCCTTTCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCC CTCCCTTTCCTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01106.hp1 others(7): Show HG01069.hp2 HG01071.hp1 HG01106.hp1 HG02015.hp2 HG02071.hp1 HG02135.hp1 HG02165.hp2 HG04204.hp1 NA18970.hp1 NA19079.hp2	a0004 a0006 a0008 a0004 a0006 a0008	a0004c0003 a0004c0014 a0006c0008 others(1): Show a0004c0003 a0004c0014 a0006c0008 a0008c0007	a0004c0003t0003 a0004c0014t0003 a0006c0008t0003 others(1): Show a0004c0003t0003 a0004c0014t0003 a0006c0008t0003 a0008c0007t0003	a0004c0003t0003g0003 a0004c0003t0003g0004 a0004c0003t0003g0067 others(7): Show a0004c0003t0003g0003 a0004c0003t0003g0004 a0004c0003t0003g0067 a0004c0003t0003g0091 a0004c0003t0003g0092 a0004c0014t0003g0043 a0004c0014t0003g0044 a0006c0008t0003g0027 a0008c0007t0003g0042 a0008c0007t0003g0061	10	114	0.0877	211	c.215 others(228): Show c.2154+339_2154+340insTCCCTTTCCTTCCCTTCCCTCCCTACCT TTCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTGCCTTCCCTCCCTCCCT TTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCT CCCTCCCTTTCCTTTCCTTCCCTCCCTCCCTTTCCTTTCCTTCCCTCCCT CCCTTTCCTTCCCTCCCTCCCTCCCTTTCCTTC		TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18					INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2418476	C C	CCTCCCTT others(204): Show CCTCCCTTTCCTTCCCTTCCCTCCCTACCTTTCCTTTCCTTCCCTCCCTC CCTTTCCTTCCCTGCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTT CCTTCCCTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTTTCCTTTCCTTC CCTCCCTCCCTTTCCTTTCCTTCTCTCCCTCCCTTTCCTTCCCTCCCTCC CTCCCTTTCCTT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0003 a0008c0007t0003	a0008c0007t0003g0018 a0008c0007t0003g0018	1	114	0.0088	211	c.215 others(228): Show c.2154+339_2154+340insTCCCTTTCCTTCCCTTCCCTCCCTACCT TTCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTGCCTTCCCTCCCTCCCT TTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCT CCCTCCCTTTCCTTTCCTTCCCTCCCTCCCTTTCCTTTCCTTCTCTCCCT CCCTTTCCTTCCCTCCCTCCCTCCCTTTCCTTC		TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18					INFO_REALIGN_3_PRIME	chr19	TogoVar
TP73_chr1_3647516_3741201	3694857	G G	GCCCTGCA others(204): Show GCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCCA CCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGAAA TCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCATGCAGC CTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTC CCACAATCCCAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0019 a0003c0008t0019	a0003c0008t0019g0209 a0003c0008t0019g0209	1	358	0.0028	211	c.186 others(230): Show c.186+11679_186+11680insCTGCAGCCTCAGCCCCTCCTCCCGCA ATCCCAGCCCTGCAGCCTCCACCCCTCCTCCCGCAATCCCAGCCATGCAG CCTCAGCCCCTCCTCCCGAAATCCCAGCCCTGCAGCCTCAGCCCCTCCTC CCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCA TGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCC		TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM49D1_chr11_89906409_89927245	89909246	A A	ATTTTATG others(204): Show ATTTTATGTAAAATATAAATATATAAATATTTGTATATTATATATTTATA TAAAATATAAATATACAAATATTTGTATATTATATATTTATATAAAATAT AAATATACAAATATTTGTATATTATATATTTATATAAAATATAAATATAT AAATATTTGTATATTTATATTTTATATAAAATATAAATATATAAATATTT GTATATTTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG03688.hp2 HG04204.hp1 others(1): Show HG02602.hp2 HG03688.hp2 HG04204.hp1 NA19043.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0010c0013 a0002c0002 a0010c0013	a0002c0002t0001 a0010c0013t0001 a0002c0002t0001 a0010c0013t0001	a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 others(1): Show a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0010c0013t0001g0059	4	208	0.0192	211	c.23 others(222): Show c.2340_*2341insATATAAATATACAAATATTTATATATTTATATTT TATATAAAATATAAATATACAAATATTTATATATTTATATTTTATATAAA TATATAATATACAAATATTTGTATATTTATATTTTATATAAATATATAAT ATACAAATATTTGTATATTTATATTTTATATAAATATATAATATACAAAT ATTTATATATTTATATTTTACATAAAA		TRIM49D1	ENSG00000223417.9	transcript	ENST00000420869.3	protein_coding					2162		chr11	TogoVar
TRIM49D2_chr11_89919064_89938063	89935103	A A	AAAACACA others(204): Show AAAACACATAATATACAAATATTTATATATTTATATTATATATAAAACAC ATAATATACAAATATTTATATATTTATATTATATATAAAATACAAATATA CAAATATTTATATATTTATATTTTATATAAAATATAAATATACAAATATT TATATATTTATATTTTATATAAAATATAAATATACAAATATTTATATATT TATATTTTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 NA18950.hp2 HG02083.hp1 NA18950.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0005 a0004c0005t0001g0014 a0001c0001t0001g0005 a0004c0005t0001g0014	2	256	0.0078	211	c.22 others(222): Show c.2218_*2219insAAACACATAATATACAAATATTTATATATTTATA TTATATATAAAACACATAATATACAAATATTTATATATTTATATTATATA TAAAATACAAATATACAAATATTTATATATTTATATTTTATATAAAATAT AAATATACAAATATTTATATATTTATATTTTATATAAAATATAAATATAC AAATATTTATATATTTATATTTTATAT		TRIM49D2	ENSG00000233802.8	transcript	ENST00000623787.3	protein_coding					2041		chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53072951	G G	GTTCCTTC others(204): Show GTTCCTTCATCCATCTATCCCTCCATCCATCCCTCCCTTCATCCATCCCT CCCTCCCTCCATCCCTCCCTCCATCCATCCCTTCCTCCATCCATTCCTCC TTAATCCATTCATCCATCCCTCCATTCCTTTATTCATCTATCCCTCCTTC CATCCATCCCTCCATTCATCCATTCCTCCATCCATCCCTTAATCCATTCA TCCATCCCTCCA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0088 a0002c0003t0088	a0002c0003t0088g0066 a0002c0003t0088g0066	1	174	0.0058	211	c.40+ others(228): Show c.40+99673_40+99674insCTCCATCCCTCCCTCCATCCATCCCTTC CTCCATCCATTCCTCCTTAATCCATTCATCCATCCCTCCATTCCTTTATT CATCTATCCCTCCTTCCATCCATCCCTCCATTCATCCATTCCTCCATCCA TCCCTTAATCCATTCATCCATCCCTCCATTCCTTCATCCATCTATCCCTC CATCCATCCCTCCCTTCATCCATCCCTCCCTCC		TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr20	TogoVar
TUBB2B_chr6_3219277_3232653	3221996	A A	ACCATCAC others(204): Show ACCATCACCACCACTACCACCACCACCACCACTACCACCATCGCCACCAC CACCATCACCACCACCACCACCACCACCACACTACCACCACCACCATCAC CATCATCATCACCACCACCACGACCACCACAACACTACCACATCACCACC ACCATCACCACCACCACCATCACCACCACTACCACCACCATCACCACCAC CACCACCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	360	0.0028	211	c.27 others(222): Show c.2754_*2755insGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATGTGGTAGTGTTGT GGTGGTCGTGGTGGTGGTGATGATGATGGTGATGGTGGTGGTGGTAGTGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGCGATGGTGGTAGTGG TGGTGGTGGTGGTAGTGGTGGTGATGG		TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding					2280		chr6	TogoVar
UMAD1_chr7_7635752_7884223	7679342	T T	TACATGTT others(204): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAATATATATTTATATATTTAATTTATAGATAAATATATATT TATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGA TAAATATATATTTATATTTAATTTATAGATAAATATATATTTATATATTT AATTTATAGATA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0247 a0001c0001t0017g0247	1	250	0.0040	211	c.82+ others(226): Show c.82+5890_82+5891insCATGTTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATTTAATTTATAGATAA ATATATATTTATATATTTAATTTATAGATAA		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679372	T T	TACATGTT others(204): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAATATATATTTATATATTTAATTTATAGATAAATATATATT TATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGA TAAATATATATTTATATTTAATTTATAGATAAATATATATTTATATATTT AATTTATAGATA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02523.hp2 NA18952.hp2 others(1): Show HG01975.hp2 HG02523.hp2 NA18952.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 others(1): Show a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0049	a0001c0001t0017g0182 a0001c0001t0018g0180 a0001c0001t0023g0245 others(1): Show a0001c0001t0017g0182 a0001c0001t0018g0180 a0001c0001t0023g0245 a0001c0001t0049g0013	4	250	0.0160	211	c.82+ others(226): Show c.82+5920_82+5921insCATGTTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATTTAATTTATAGATAA ATATATATTTATATATTTAATTTATAGATAA		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
VCX3A_chrX_6528618_6540118	6533191	C C	CCCTCCCT others(204): Show CCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCA CACACCACCTCTTCCTCCCTCCCTCCCCTCACACCACCTCTTCCTCCCTC CCTCCCTCCCCACACACCTCCTCTTCCCCCCTCCCTCCCCTCACACCACC TCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCTC ACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	74	0.0135	211	c.55 others(220): Show c.553_*554insAAGAGGTGGTGTGAGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGGG GAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGAGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGG		VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding					426		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467096	G G	GGGGAGGG others(204): Show GGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGA AGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0053 a0005c0005t0003g0053	1	271	0.0037	211	c.71 others(220): Show c.713_*714insGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGG GAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGA		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding					587		chrX	TogoVar
VPS8_chr3_184807166_185057604	184895631	C C	CCCTCCTC others(204): Show CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCCC CCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCT CCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0018 a0018	a0018c0032 a0018c0032	a0018c0032t0001 a0018c0032t0001	a0018c0032t0001g0217 a0018c0032t0001g0217	1	274	0.0037	211	c.200 others(228): Show c.2004+708_2004+709insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCTCCTCCTC CTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCTCCTCCTCCTCCTCCTCCTCC		VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47					INFO_REALIGN_3_PRIME	chr3	TogoVar
WDR64_chr1_241647281_241807777	241674897	T T	TCCTTCTT others(204): Show TCCTTCTTTCCTCCCTTTCTCCCTCCCTCTCTTCCTTCCTTTCTTCTTCC TTCCCTCCCTCCTTCCTTCTTTCCTTCCTTTTCTCTCCCTCCCTCCTTCC TGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTTCC TTCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0074	1	326	0.0031	211	c.483 others(226): Show c.483+150_483+151insCCTTCTTTCCTCCCTTTCTCCCTCCCTCTC TTCCTTCCTTTCTTCTTCCTTCCCTCCCTCCTTCCTTCTTTCCTTCCTTT TCTCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTTTCCT TCCTTCCTCCCTCCCTTCCTTCCTCCCTCCC		WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27						chr1	TogoVar
WDR64_chr1_241647281_241807777	241675038	T T	TCCTGCCT others(204): Show TCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CTCCTCCCCTCCTTCCTTCCTCCTCCCTCCTTCCTCCCTCCCTCCCTCCT TCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCCCT CCCTCCTGCCTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0269 a0001c0002t0002g0269	1	326	0.0031	211	c.483 others(226): Show c.483+292_483+293insCTGCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCTCCTCCCCTCCTTCCTTCCTCCTCCCTCCTT CCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTC CCTCCTGCCTCCCTCCCTCCCTCCTGCCTCC		WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27					INFO_REALIGN_3_PRIME	chr1	TogoVar
XRCC2_chr7_152639776_152681141	152674705	T T	TATATATA others(204): Show TATATATAAAAATATATTTATATAATATATTTTTAAATATATATTATATA TAATATATTTTTAAATATATATTATATATAATATATATTTAAAAATATAT TATATAAATATATTTTAAAATATGTATTATATATAAATATATTTTTAAAT ATATATTATATATAATATATTTTTAAATATATATTATATATAATATATTT TTAAATATATAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0343 a0001c0001t0005g0343	1	394	0.0025	211	c.39+ others(226): Show c.39+1335_39+1336insTTATATATTTAAAAATATATTATATATAAT ATATATTTAAAAATATATTATATATAATATATATTTAAAAATATATTTAT ATATAATACATATTTTAAAATATATTTATATAATATATTTTTAAATATAT ATTATATATAATATATATTTAAAAATATATTATATATAATATATATTTAA AAATATATTATATAAATATATTTTTATATAT		XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2						chr7	TogoVar
ZBTB43_chr9_126800040_126843210	126814265	G G	GATTTTTA others(204): Show GATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACA GATGTAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTA AAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATT TACATCTGTAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 NA18522.hp2 HG02055.hp1 HG02451.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0247 a0001c0001t0005g0248 a0001c0001t0005g0250 a0001c0001t0005g0247 a0001c0001t0005g0248 a0001c0001t0005g0250	3	388	0.0077	211	c.-24 others(228): Show c.-24+5412_-24+5413insTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGTAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACA GATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAA AATTTTTACAGATGAAATTTACATCTGTAAAAT		ZBTB43	ENSG00000169155.10	transcript	ENST00000373464.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF506_chr19_19787711_19826750	19795503	T T	TCTTTTGT others(204): Show TCTTTTGTGCACTGGACACTCATCTACACTTTCACAGCCTTTTTTTAACT GTAAATTGTCATGTCTACATTTTTCATATCTTCTTAGTATCACTTTTTGG AAAGAATCTTTTATGCTCTGCTCTGACCAAAGGTCTTGGGCAAAATGAGA ATACATAACTGAAAGAAACAATAAAAACACATGACTTCAATTGCTAGACT CAGATAAATATA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00597.hp1 HG00597.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0124 a0004c0009t0001g0124	1	418	0.0024	211	c.227 others(221): Show c.227-54_383dupTATATTTATCTGAGTCTAGCAATTGAAGTCATGTG TTTTTATTGTTTCTTTCAGTTATGTATTCTCATTTTGCCCAAGACCTTTG GTCAGAGCAGAGCATAAAAGATTCTTTCCAAAAAGTGATACTAAGAAGAT ATGAAAAATGTAGACATGACAATTTACAGTTAAAAAAAGGCTGTGAAAGT GTAGATGAGTGTCCAGTGCACAAAAG	p.Arg others(5): Show p.Arg128fs	ZNF506	ENSG00000081665.14	transcript	ENST00000540806.7	protein_coding	4/4	530/3323	383/1335	128/444			chr19	TogoVar
ZNF573_chr19_37733302_37784586	37751663	C C	CATGTATA others(204): Show CATGTATACTGTGTATATATACAGTATAGACAGCATGTATACTGTGTATA GTACATAGTACCGTATATATACTGTATATAGTACATAGTACCGTATATAT ACTGTATATAGTACATAGTACCGTATATACTGTATATAGTACATAGTACC GTATATATACTGTATATAGTACATAGTACCGTATATATACTGTATATAGT ACATAGTACCGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	350	0.0029	211	c.296 others(230): Show c.296-11470_296-11469insACGGTACTATGTACTATATACAGTAT ATATACGGTACTATGTACTATATACAGTATATATACGGTACTATGTACTA TATACAGTATATACGGTACTATGTACTATATACAGTATATATACGGTACT ATGTACTATATACAGTATATATACGGTACTATGTACTATACACAGTATAC ATGCTGTCTATACTGTATATATACACAGTATACAT		ZNF573	ENSG00000189144.15	transcript	ENST00000536220.7	protein_coding	4/4						chr19	TogoVar
ZNF652_chr17_49284206_49367250	49295410	T T	TTTTTTTT others(204): Show TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCGGAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTCGTTAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01496.hp2 others(6): Show HG00280.hp1 HG01070.hp1 HG01496.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02273.hp1 HG02293.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0099 a0001c0001t0100 others(4): Show a0001c0001t0030 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0107 a0001c0001t0108 a0001c0001t0111	a0001c0001t0030g0135 a0001c0001t0030g0137 a0001c0001t0030g0168 others(6): Show a0001c0001t0030g0135 a0001c0001t0030g0137 a0001c0001t0030g0168 a0001c0001t0099g0131 a0001c0001t0100g0136 a0001c0001t0101g0113 a0001c0001t0107g0152 a0001c0001t0108g0128 a0001c0001t0111g0123	9	382	0.0236	211	c.30 others(222): Show c.3002_*3003insGCTAACGAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTCCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAA		ZNF652	ENSG00000198740.9	transcript	ENST00000430262.3	protein_coding	6/6				3002		chr17	TogoVar
ZNF652_chr17_49284206_49367250	49295410	T T	TTTTTTTT others(204): Show TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCGGAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG00735.hp1 others(21): Show HG00609.hp1 HG00639.hp1 HG00735.hp1 HG01192.hp1 HG01515.hp2 HG01517.hp2 HG03834.hp2 HG04115.hp2 HG04228.hp1 NA18747.hp2 NA18947.hp1 NA18951.hp2 NA18964.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18978.hp1 NA18994.hp2 NA19004.hp2 NA19007.hp1 NA19064.hp2 NA19070.hp2 NA19085.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0003 a0001c0001t0043 a0001c0001t0045 others(4): Show a0001c0001t0003 a0001c0001t0043 a0001c0001t0045 a0001c0001t0097 a0001c0001t0098 a0001c0001t0135 a0004c0007t0003	a0001c0001t0003g0118 a0001c0001t0003g0121 a0001c0001t0003g0122 others(21): Show a0001c0001t0003g0118 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0143 a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0169 a0001c0001t0003g0335 a0001c0001t0043g0129 a0001c0001t0043g0139 a0001c0001t0045g0119 a0001c0001t0045g0156 a0001c0001t0097g0159 a0001c0001t0098g0166 a0001c0001t0135g0381 a0004c0007t0003g0120	24	382	0.0628	211	c.30 others(222): Show c.3002_*3003insGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTCCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAA		ZNF652	ENSG00000198740.9	transcript	ENST00000430262.3	protein_coding	6/6				3002		chr17	TogoVar

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