Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ISYNA1_chr19_18429388_18443133	18442149	C C	CACCACCA others(218): Show CACCACCACACCACACCACCACACCACACCCACACCCACACCCACACACA CCCACACCCACCACACCCACACACACCACACCCACCCCAACACACACACA CACCCCACACCACACCCAACACCCACACCCCACACTGCACACCCCAACAC ACCACACCCTCACACCACACACCAACACACACCACACCCACACCACACAT AAACCACACCCACACCCAACACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	308	0.0033	225	c.-40 others(236): Show c.-4067_-4066insATGTGTGTTGGGTGTGGGTGTGGTTTATGTGTGG TGTGGGTGTGGTGTGTGTTGGTGTGTGGTGTGAGGGTGTGGTGTGTTGGG GTGTGCAGTGTGGGGTGTGGGTGTTGGGTGTGGTGTGGGGTGTGTGTGTG TGTTGGGGTGGGTGTGGTGTGTGTGGGTGTGGTGGGTGTGGGTGTGTGTG GGTGTGGGTGTGGGTGTGGTGTGGTGGTGTGGTGTGGTGGT	ISYNA1	ENSG00000105655.19	transcript	ENST00000338128.13	protein_coding		4017		chr19	TogoVar
KATNIP_chr16_27545144_27785344	27713641	T T	TTATGTGT others(218): Show TTATGTGTGTGTATATATATACACACACATATATATAATATGTGTGTGTA TATATATACACACACATATTATATATATGTGTGTGTATATATATACACAT ACATATATATATATATATGTATGTGTATATATATACACATACATATTATA TATATGTGTGTGTATATATATACACATACATATTATATATATGTGTGTGT ATATATATACACATACATATTATATA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	152	0.0066	225	c.160 others(244): Show c.1605+4745_1605+4746insCACATATATATAATATGTGTGTGTAT ATATATACACACACATATTATATATATGTGTGTGTATATATATACACATA CATATATATATATATATGTATGTGTATATATATACACATACATATTATAT ATATGTGTGTGTATATATATACACATACATATTATATATATGTGTGTGTA TATATATACACATACATATTATATATATGTGTGTGTATATATATACACA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27713641	T T	TTATGTGT others(218): Show TTATGTGTGTGTATATATATACACACACATATATATAATATGTGTGTGTA TATATATACACATACATATATATAATATGTGTGTGTATATATATACACAT ACATATATATATATATATGTATGTGTATATATATACACACACATATTATA TATATGTGTGTGTATATATATACACATACATATTATATATATGTGTGTGT ATATATATACACATACATATTATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	152	0.0066	225	c.160 others(244): Show c.1605+4745_1605+4746insCACATATATATAATATGTGTGTGTAT ATATATACACATACATATATATAATATGTGTGTGTATATATATACACATA CATATATATATATATATGTATGTGTATATATATACACACACATATTATAT ATATGTGTGTGTATATATATACACATACATATTATATATATGTGTGTGTA TATATATACACATACATATTATATATATGTGTGTGTATATATATACACA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27713641	T T	TTATGTGT others(218): Show TTATGTGTGTGTATATATATACACACACATATATATAATATGTGTGTGTA TATATATACACATACATATTATATATATGTGTGTGTATATATATACACAT ACATATATATATATATATGTATGTGTATATATATACACATACATATTATA TATATGTGTGTGTATATATATACACACACATATTATATATATGTGTGTGT ATATATATACACACACATATTATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0018 a0018	a0018c0027 a0018c0027	a0018c0027t0001 a0018c0027t0001	a0018c0027t0001g0004 a0018c0027t0001g0004	1	152	0.0066	225	c.160 others(244): Show c.1605+4745_1605+4746insCACATATATATAATATGTGTGTGTAT ATATATACACATACATATTATATATATGTGTGTGTATATATATACACATA CATATATATATATATATGTATGTGTATATATATACACATACATATTATAT ATATGTGTGTGTATATATATACACACACATATTATATATATGTGTGTGTA TATATATACACACACATATTATATATATGTGTGTGTATATATATACACA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27713641	T T	TTATGTGT others(218): Show TTATGTGTGTGTATATATATACACACACATATATATAATATGTGTGTGTA TATATATACACATACATATTATATATATGTGTGTGTATATATATACACAT ACATATATATATATATATGTATGTGTATATATATACACATACATATTATA TATATGTGTGTGTATATATATACACACACATATTATATATATGTGTGTGT ATATATATACACATACATATTATATA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02738.hp1 HG03041.hp1 others(2): Show HG02155.hp1 HG02738.hp1 HG03041.hp1 HG03225.hp2 NA19043.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0008 a0001c0015 others(1): Show a0001c0001 a0001c0008 a0001c0015 a0006c0009	a0001c0001t0001 a0001c0008t0004 a0001c0015t0001 others(1): Show a0001c0001t0001 a0001c0008t0004 a0001c0015t0001 a0006c0009t0001	a0001c0001t0001g0007 a0001c0008t0004g0041 a0001c0015t0001g0012 others(2): Show a0001c0001t0001g0007 a0001c0008t0004g0041 a0001c0015t0001g0012 a0001c0015t0001g0084 a0006c0009t0001g0096	5	152	0.0329	225	c.160 others(244): Show c.1605+4745_1605+4746insCACATATATATAATATGTGTGTGTAT ATATATACACATACATATTATATATATGTGTGTGTATATATATACACATA CATATATATATATATATGTATGTGTATATATATACACATACATATTATAT ATATGTGTGTGTATATATATACACACACATATTATATATATGTGTGTGTA TATATATACACATACATATTATATATATGTGTGTGTATATATATACACA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27713641	T T	TTATGTGT others(218): Show TTATGTGTGTGTATATATATACACACACATATATATAATATGTGTGTGTA TATATATACACATACATATTATATATATGTGTGTGTATATATATACACAT ACATATATATATATATATGTATGTGTATATATATACACATACATATTATA TATATGTGTGTGTATATATATACACATACATATTATATATATGTGTGTGT ATATATATACACATACATATTATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01106.hp2 HG01261.hp1 others(29): Show HG00408.hp2 HG01106.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01515.hp2 HG02056.hp2 HG02074.hp2 HG02132.hp1 HG02135.hp2 HG02258.hp1 HG02273.hp1 HG02572.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02809.hp1 HG02965.hp1 HG02976.hp1 NA18747.hp1 NA18906.hp1 NA18950.hp2 NA18954.hp2 NA18959.hp1 NA18962.hp2 NA18986.hp1 NA18995.hp1 NA19081.hp1 NA19084.hp2 NA20129.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0013 others(1): Show a0001 a0006 a0013 a0019	a0001c0001 a0001c0008 a0001c0026 others(3): Show a0001c0001 a0001c0008 a0001c0026 a0006c0009 a0013c0020 a0019c0021	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0008t0004 a0001c0026t0004 a0006c0009t0001 a0013c0020t0004 a0019c0021t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(29): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0133 a0001c0001t0004g0017 a0001c0001t0004g0024 a0001c0001t0004g0051 a0001c0001t0004g0081 a0001c0001t0007g0091 a0001c0001t0009g0055 a0001c0008t0004g0026 a0001c0008t0004g0079 a0001c0008t0004g0080 a0001c0026t0004g0032 a0006c0009t0001g0035 a0006c0009t0001g0036 a0013c0020t0004g0008 a0019c0021t0001g0016	32	152	0.2105	225	c.160 others(244): Show c.1605+4745_1605+4746insCACATATATATAATATGTGTGTGTAT ATATATACACATACATATTATATATATGTGTGTGTATATATATACACATA CATATATATATATATATGTATGTGTATATATATACACATACATATTATAT ATATGTGTGTGTATATATATACACATACATATTATATATATGTGTGTGTA TATATATACACATACATATTATATATATGTGTGTGTATATATATACACA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27713641	T T	TTATGTGT others(218): Show TTATGTGTGTGTATATATATACACACACATATATATAATATGTGTGTGTA TATATATACACATACATATTATATATATGTGTGTGTATATATATACACAT ACATATATATATATATATGTGTGTGTATATATATACACATACATATTATA TATATGTGTGTGTATATATATACACATACATATTATATATATGTGTGTGT ATATATATACACATACATATTATATA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp2 NA19002.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0095 a0001c0001t0001g0009 a0001c0001t0001g0095	2	152	0.0132	225	c.160 others(244): Show c.1605+4745_1605+4746insCACATATATATAATATGTGTGTGTAT ATATATACACATACATATTATATATATGTGTGTGTATATATATACACATA CATATATATATATATATGTGTGTGTATATATATACACATACATATTATAT ATATGTGTGTGTATATATATACACATACATATTATATATATGTGTGTGTA TATATATACACATACATATTATATATATGTGTGTGTATATATATACACA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KCNH1_chr1_210673314_211139148	210718363	T T	TATATATA others(218): Show TATATATAAATATATGCATATATTTAATGCATAAATATATGCATATATTT AATACATAAATATATGCATATATTTAATACATAAATATATGCATATATTT AATACATAAATATATGCATATATTTAATACATAAATATATGCATATATTT AATACATAAATATATGCATATATTTAATACATAAATATATGCATATATTT AATACATAAATATATGCATATATTTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01081.hp1 HG01346.hp2 others(1): Show HG00099.hp1 HG01081.hp1 HG01346.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0130 others(1): Show a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0130 a0001c0001t0006g0030	4	164	0.0244	225	c.211 others(246): Show c.2113-34226_2113-34225insTAAATATATGCATATATTTATGTA TTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTATGTA TTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTATGTA TTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTATGTA TTAAATATATGCATATATTTATGCATTAAATATATGCATATATTTATATA T	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210718367	T T	TATAAATA others(218): Show TATAAATATATGCATATATTTAATGCATAAATATATGCATATATTTAATA CATAAATATATGCATATATTTAATACATAAATATATGCATATATTTAATA CATAAATATATGCATATATTTAATACATAAATATATGCATATATTTAATA CATAAATATATGCATATATTTAATACATAAATATATGCATATATTTAATA CATAAATATATGCATATATTTAATAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	164	0.0061	225	c.211 others(246): Show c.2113-34230_2113-34229insGTATTAAATATATGCATATATTTA TGTATTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTA TGTATTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTA TGTATTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTA TGTATTAAATATATGCATATATTTATGCATTAAATATATGCATATATTTA T	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNQ2_chr20_63395208_63477655	63442830	T T	TCACCACC others(218): Show TCACCACCACCACCACCACCATCACCATCACCACCACCATCACCATTATC ACCACCACCATCACCACCATCACCACCACCACCATCACCATCACCACCAC CATCACCATCATCACCACCACCATCACCACCATCACCATCACCACCATCA CCATCACCACCACCACCATCACCATCACCATTACCACCACCATTACCACC ACCATCACCATCACCATCACCACCAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0091 a0001c0028t0091	a0001c0028t0091g0024 a0001c0028t0091g0024	1	330	0.0030	225	c.691 others(240): Show c.691-300_691-299insGTGGTGGTGATGGTGATGGTGATGGTGGTG GTAATGGTGGTGGTAATGGTGATGGTGATGGTGGTGGTGGTGATGGTGAT GGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGG TGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATA ATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KDM4B_chr19_4964113_5158598	5144400	T T	TGAGAGCA others(218): Show TGAGAGCATCACGGTGAGCTGTGGGGTGGGGCAGGGGGCGGGGGGAGGCT GGGAGCACAGCGACAACCTGTACCCCGAGAGCATCACGGTGAGCTGTGGG GTGGGGCAGGGGGCGGGGGGAGGCTGGGAGCACAGCGACAACCTGTACCC TGAGAGCATCACGGTGAGCTGTGGGGTGGGGCAGGGGGCGGGGGGAGGCT GGGAGCACAGCGACAACCTGTACCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00642.hp1 others(6): Show HG00099.hp1 HG00323.hp2 HG00642.hp1 HG02148.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG04184.hp2 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0005 a0004c0004t0003 a0004c0004t0005	a0004c0004t0003g0135 a0004c0004t0005g0004 a0004c0004t0005g0034 others(6): Show a0004c0004t0003g0135 a0004c0004t0005g0004 a0004c0004t0005g0034 a0004c0004t0005g0041 a0004c0004t0005g0046 a0004c0004t0005g0047 a0004c0004t0005g0048 a0004c0004t0005g0049 a0004c0004t0005g0051	9	270	0.0333	225	c.290 others(240): Show c.2901+62_2901+63insCGAGAGCATCACGGTGAGCTGTGGGGTGGG GCAGGGGGCGGGGGGAGGCTGGGAGCACAGCGACAACCTGTACCCTGAGA GCATCACGGTGAGCTGTGGGGTGGGGCAGGGGGCGGGGGGAGGCTGGGAG CACAGCGACAACCTGTACCCCGAGAGCATCACGGTGAGCTGTGGGGTGGG GCAGGGGGCGGGGGGAGGCTGGGAGCACAGCGACAACCTGTACCC	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KIAA1958_chr9_112481827_112674397	112525949	T T	TCCTTCTT others(218): Show TCCTTCTTCTTCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTTCTTCTCCTTCTTCTTCTCCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTCCTTCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	308	0.0033	225	c.-25 others(244): Show c.-25+38831_-25+38832insCCTTCTTCTTCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTC CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTCCTT others(218): Show TTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTT CTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTT CCTCTTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03453.hp1 HG01884.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0035 a0001c0001t0001 a0001c0001t0035	a0001c0001t0001g0255 a0001c0001t0035g0224 a0001c0001t0001g0255 a0001c0001t0035g0224	2	308	0.0065	225	c.-25 others(244): Show c.-25+38849_-25+38850insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTCCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTTCTC others(218): Show TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTT CCTCTTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	308	0.0033	225	c.-25 others(244): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTCCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTTCTC others(218): Show TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTT CCTCTTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02602.hp2 HG03017.hp1 others(2): Show HG02004.hp1 HG02602.hp2 HG03017.hp1 HG03041.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0064 a0001c0001t0001g0198 a0001c0001t0001g0230 others(2): Show a0001c0001t0001g0064 a0001c0001t0001g0198 a0001c0001t0001g0230 a0001c0001t0002g0217 a0001c0001t0002g0278	5	308	0.0162	225	c.-25 others(244): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTCCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTTCTC others(218): Show TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTT CCTCTTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	308	0.0033	225	c.-25 others(244): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTCCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(218): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CCTCTTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0097 a0001c0001t0057g0097	1	308	0.0033	225	c.-25 others(244): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(218): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CCTCTTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18988.hp1 HG02602.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0104 a0001c0001t0009g0270 a0001c0001t0003g0104 a0001c0001t0009g0270	2	308	0.0065	225	c.-25 others(244): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(218): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CCTCTTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0246 a0001c0001t0003g0246	1	308	0.0033	225	c.-25 others(244): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(218): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCG GGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGC GGGGCGGGCGGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGGCGGGAACGGCGCTGCGG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0075 a0002c0002t0003g0075	1	375	0.0027	225	c.317 others(242): Show c.317+1409_317+1410insGGGGGGCGGGAACGGCGCTGCGGGGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGGGGCGGGAACGGCGCTGCGGGGG GGGGCGGGAACGGCGCTGCGGGGCGGGCGGGGAACGGCGCTGCGGGGGGG GCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGG CGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KLHL23_chr2_169728832_169756878	169738856	C C	CCCTCCCC others(218): Show CCCTCCCCCCTCCTCCCCCTTCCCCTCCCCCTCCTCCCCCTTCCCCTCCC CCTCCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCCCTCCTCCTCCCC CTCCTCCCTCTCCTCCCCCTCCTCCTCCCCCTCCTCCCTCTCCTCCCCCT TCCCCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCCTCCCCCTCCTCC CCCTCCCCCTCCTCCCCCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0115	a0001c0001t0115g0043 a0001c0001t0115g0043	1	400	0.0025	225	c.121 others(244): Show c.1214-2522_1214-2521insCCTCCTCCCCCTTCCCCTCCCCCTCC TCCCCCTTCCCCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCTCCCCCTCT CCCCCTCCTCCTCCCCCTCCTCCCTCTCCTCCCCCTCCTCCTCCCCCTCC TCCCTCTCCTCCCCCTTCCCCTCCCCCTCCTCCCCCTCTCCCCCTCCTCC CCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCCTCCCTCTCCTCCCC	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
L3MBTL4_chr18_5949717_6419911	6185960	C C	CTATTTTA others(218): Show CTATTTTATTTATTTTATTTTTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	94	0.0106	225	c.982 others(244): Show c.982-14019_982-14018insATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAAAAATAAAATAAATAAAATA	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	12/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6185960	C C	CTTTTTTT others(218): Show CTTTTTTTTATTATTTTATTTTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0080	1	94	0.0106	225	c.982 others(244): Show c.982-14019_982-14018insATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAAAATAAAATAATAAAAAAAA	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	12/18			chr18	TogoVar
LAMC1_chr1_183018420_183150592	183150199	T T	TCTCCTGC others(218): Show TCTCCTGCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACA CAGCCCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTC CTCACACACCACACAGCCCACACCCCTCTCCTCACACACCAGACAGCTCA CACCCCTCTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCA CACACCAGACAGCTCACACCCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA20129.hp1 NA18977.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0257 a0001c0003t0003g0292 a0001c0003t0003g0257 a0001c0003t0003g0292	2	308	0.0065	225	c.74 others(236): Show c.7409_*7410insCTCCTGCTCACACACCACACAGCTCACACCCCTC TCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACACCACACA GCTCACACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCTCAC ACACCAGACAGCTCACACCCCTCTCCTCCTCACACACCACACAGCCCACA CCCCTCTCCTCCTCACACACCAGACAGCTCACACCCCTCTC	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4608		chr1	TogoVar
LCE1F_chr1_152770140_152782024	152775938	T T	TTCCAATA others(218): Show TTCCAATAGAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	438	0.0023	225	c.-22 others(240): Show c.-22-398_-22-397insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTCCAATAGAAATTT	LCE1F	ENSG00000240386.4	transcript	ENST00000334371.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHFPL3_chr7_104323603_104913561	104824192	T T	TATTATAT others(218): Show TATTATATATTATATATTATATATATAATATATATATTATATATTATATA TATAATATATATTATATATTATATATATAATATATATTATATATTATATA TAATATAATATATATTATATATTATATATATAATATATTATATATTATAT ATATATTATATTATATATTATATATAATTATATATATTTTATATATTATA TATTATATATTATATATTATATATTA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	86	0.0116	225	c.683 others(244): Show c.683-81995_683-81994insATTATATATTATATATTATATATATA ATATATATATTATATATTATATATATAATATATATTATATATTATATATA TAATATATATTATATATTATATATAATATAATATATATTATATATTATAT ATATAATATATTATATATTATATATATATTATATTATATATTATATATAA TTATATATATTTTATATATTATATATTATATATTATATATTATATATTA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LHPP_chr10_124456823_124619141	124610449	A A	AGGGTGCG others(218): Show AGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGT GCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTG CTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAG GGTGCGGGTGAGGGTGCTGGTGGAGC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	260	0.0039	225	c.717 others(242): Show c.717-2810_717-2809insCGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTG CTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAG GGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGC TGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	955472	C C	CACACACA others(218): Show CACACACACACACACACACATCTAAGTGAACCAGACACGTTACATAAAAT GCGTGCCTGCAGCAGATGCGGTGTGTGCATACACACACACACATCTAAGT AAACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGTAGTGTGTG CATCCACACACACACATCTAAGTAAACTAGACACGTTACATAAAATGCGT GCCCGCAGCAGAGACGGTGTGTGCGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG03453.hp2 others(1): Show HG02055.hp2 HG02258.hp1 HG03453.hp2 HG06807.hp2	a0001 a0010 a0001 a0010	a0001c0022 a0001c0023 a0010c0038 others(1): Show a0001c0022 a0001c0023 a0010c0038 a0010c0039	a0001c0022t0001 a0001c0023t0001 a0010c0038t0001 others(1): Show a0001c0022t0001 a0001c0023t0001 a0010c0038t0001 a0010c0039t0002	a0001c0022t0001g0268 a0001c0023t0001g0244 a0010c0038t0001g0245 others(1): Show a0001c0022t0001g0268 a0001c0023t0001g0244 a0010c0038t0001g0245 a0010c0039t0002g0264	4	294	0.0136	225	c.194 others(240): Show c.194-807_194-806insACGCACACACCGTCTCTGCTGCGGGCACGC ATTTTATGTAACGTGTCTAGTTTACTTAGATGTGTGTGTGTGGATGCACA CACTACGTCTGCTGCAGGCACGCATTTTATGTAACGTGTCTGGTTTACTT AGATGTGTGTGTGTGTATGCACACACCGCATCTGCTGCAGGCACGCATTT TATGTAACGTGTCTGGTTCACTTAGATGTGTGTGTGTGTGTGTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMF1_chr16_848634_975984	955472	C C	CACACACA others(218): Show CACACACACACACACACACATCTAAGTGAACCAGACACGTTACATAAAAT GCGTGCCTGCAGCAGATGCGGTGTGTGCATACACACACACACATCTAAGT AAACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGTAGTGTGTG CATCCACACACACACATCTAAGTTAACTAGACACGTTACATAAAATGCGT GCCCGCAGCAGAGACGGTGTATGCGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0102 a0001c0003t0001g0102	1	294	0.0034	225	c.194 others(240): Show c.194-807_194-806insACGCATACACCGTCTCTGCTGCGGGCACGC ATTTTATGTAACGTGTCTAGTTAACTTAGATGTGTGTGTGTGGATGCACA CACTACGTCTGCTGCAGGCACGCATTTTATGTAACGTGTCTGGTTTACTT AGATGTGTGTGTGTGTATGCACACACCGCATCTGCTGCAGGCACGCATTT TATGTAACGTGTCTGGTTCACTTAGATGTGTGTGTGTGTGTGTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMF1_chr16_848634_975984	955472	C C	CACACACA others(218): Show CACACACACACACACACACATCTAAGTGAACCAGACACGTTACATAAAAT GCGTGCCTGCAGCGGATGCGGTGTGTGCATACACACACACACATCTAAGT AAACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGTAGTGTGTG CATCCACACACACACATCTAAGTAAACTAGACACGTTACATAAAATGCGT GCCCGCAGCAGAGACGGTGTGTGCGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG01069.hp2 others(4): Show HG00099.hp2 HG00733.hp2 HG01069.hp2 HG01261.hp2 HG01515.hp1 HG01517.hp2 HG02738.hp1	a0003 a0003	a0003c0009 a0003c0032 a0003c0009 a0003c0032	a0003c0009t0001 a0003c0032t0001 a0003c0009t0001 a0003c0032t0001	a0003c0009t0001g0001 a0003c0009t0001g0002 a0003c0009t0001g0003 others(4): Show a0003c0009t0001g0001 a0003c0009t0001g0002 a0003c0009t0001g0003 a0003c0009t0001g0004 a0003c0009t0001g0005 a0003c0009t0001g0007 a0003c0032t0001g0006	7	294	0.0238	225	c.194 others(240): Show c.194-807_194-806insACGCACACACCGTCTCTGCTGCGGGCACGC ATTTTATGTAACGTGTCTAGTTTACTTAGATGTGTGTGTGTGGATGCACA CACTACGTCTGCTGCAGGCACGCATTTTATGTAACGTGTCTGGTTTACTT AGATGTGTGTGTGTGTATGCACACACCGCATCCGCTGCAGGCACGCATTT TATGTAACGTGTCTGGTTCACTTAGATGTGTGTGTGTGTGTGTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LRP12_chr8_104484236_104594258	104588961	A A	ACGCCGCC others(218): Show ACGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG CCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC GCCGCCGCCGCCGCCGCCGCCGCCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0027 a0001c0001t0031g0027	1	318	0.0031	225	c.-65 others(232): Show c.-65_-64insGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	LRP12	ENSG00000147650.12	transcript	ENST00000276654.10	protein_coding	1/7	65		chr8	TogoVar
LRRC23_chr12_6899822_6919229	6909264	T T	TAATATAC others(218): Show TAATATACAATATATATATTATTATATATATAATAATATATATATAATAT ATAATTATACATAATATATAATATATAATTATAATATATAATATATATTA TATATTAATATATAATATATAAATAATAATATATAATTTATAATTATATA TTATATAATAATATATAATTATATATAATATATAATTATATATTATATAA TAACATATAATTATATATAATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0042 a0002c0002t0002g0042	1	316	0.0032	225	c.622 others(240): Show c.622-625_622-624insATATACAATATATATATTATTATATATATA ATAATATATATATAATATATAATTATACATAATATATAATATATAATTAT AATATATAATATATATTATATATTAATATATAATATATAAATAATAATAT ATAATTTATAATTATATATTATATAATAATATATAATTATATATAATATA TAATTATATATTATATAATAACATATAATTATATATAATATATAA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC36_chr16_67321815_67390204	67341007	G G	GTATTCTA others(218): Show GTATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01071.hp2 HG01261.hp1 others(8): Show HG00408.hp2 HG01071.hp2 HG01261.hp1 HG01993.hp2 HG02074.hp2 HG02735.hp1 HG03491.hp1 HG03654.hp1 HG04115.hp2 NA18998.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0069 others(8): Show a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0122 a0001c0001t0001g0150 a0001c0001t0001g0154	11	194	0.0567	225	c.71- others(238): Show c.71-766_71-765insGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATA	LRRC36	ENSG00000159708.18	transcript	ENST00000329956.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
LSS_chr21_46183446_46233774	46201242	G G	GTAGAGCC others(218): Show GTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGA GCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTG GATCACGTGGGAGGACAGGTCATGAAGCCCTCAGGGTAGAGCCTGGATCA CGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGG GAGGACAGGTCATGAAGCCCTGAGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02615.hp1 HG02622.hp2 others(3): Show HG01109.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG03139.hp1 NA18522.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0004c0007 a0001c0004 a0004c0007	a0001c0004t0011 a0004c0007t0005 a0001c0004t0011 a0004c0007t0005	a0001c0004t0011g0244 a0001c0004t0011g0245 a0001c0004t0011g0246 others(2): Show a0001c0004t0011g0244 a0001c0004t0011g0245 a0001c0004t0011g0246 a0004c0007t0005g0012 a0004c0007t0005g0059	6	358	0.0168	225	c.167 others(244): Show c.1670+4593_1670+4594insTCCTCAGGGCTTCATGACCTGTCCTC CCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACG TGATCCAGGCTCTACCCTGAGGGCTTCATGACCTGTCCTCCCACGTGATC CAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGC TCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTA	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding	17/21			chr21	TogoVar
LSS_chr21_46183446_46233774	46201347	C C	CGTGGGAG others(218): Show CGTGGGAGGACAGGTCATGAAGCCCTCAGGGTAGAGCCTGGATCACGTGG GAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGA CAGGTCATGAAGCCCTGAGGATAGAGCCTGGATCACGTGGGAGGACAGGT CATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGA AGCCCTGAGGGTAGAGCCTGGATCAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01192.hp2 HG02451.hp2 others(8): Show HG01106.hp2 HG01192.hp2 HG02451.hp2 HG02615.hp2 HG02886.hp2 HG03098.hp2 HG03209.hp2 HG03540.hp2 NA18906.hp1 NA20129.hp2 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0006 a0004c0007 a0001c0006 a0004c0007	a0001c0006t0005 a0001c0006t0010 a0001c0006t0011 others(1): Show a0001c0006t0005 a0001c0006t0010 a0001c0006t0011 a0004c0007t0005	a0001c0006t0005g0049 a0001c0006t0010g0120 a0001c0006t0010g0121 others(8): Show a0001c0006t0005g0049 a0001c0006t0010g0120 a0001c0006t0010g0121 a0001c0006t0010g0123 a0001c0006t0011g0045 a0004c0007t0005g0047 a0004c0007t0005g0053 a0004c0007t0005g0054 a0004c0007t0005g0055 a0004c0007t0005g0264 a0004c0007t0005g0284	11	358	0.0307	225	c.167 others(244): Show c.1670+4488_1670+4489insATGATCCAGGCTCTACCCTCAGGGCT TCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCATG ACCTGTCCTCCCACGTGATCCAGGCTCTATCCTCAGGGCTTCATGACCTG TCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTC CCACGTGATCCAGGCTCTACCCTGAGGGCTTCATGACCTGTCCTCCCAC	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding	17/21			chr21	TogoVar
LSS_chr21_46183446_46233774	46201347	C C	CGTGGGAG others(218): Show CGTGGGAGGACAGGTCATGAAGCCCTCAGGGTAGAGCCTGGATCACGTGG GAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGA CAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGT CATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGA AGCCCTGAGGGTAGAGCCTGGATCAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0005 a0004c0007t0005	a0004c0007t0005g0051 a0004c0007t0005g0051	1	358	0.0028	225	c.167 others(244): Show c.1670+4488_1670+4489insATGATCCAGGCTCTACCCTCAGGGCT TCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCATG ACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTG TCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTC CCACGTGATCCAGGCTCTACCCTGAGGGCTTCATGACCTGTCCTCCCAC	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding	17/21			chr21	TogoVar
LSS_chr21_46183446_46233774	46201347	C C	CGTGGGAG others(218): Show CGTGGGAGGACAGGTCATGAAGCCCTCAGGGTAGAGCCTGGATCACGTGG GAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGA CAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGT CATGAAGCCCTGAGGGTAGAGCCTGGATCATGTGGGAGGACAGGTCATGA AGCCCTGAGGGTAGAGCCTGGATCAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	358	0.0028	225	c.167 others(244): Show c.1670+4488_1670+4489insATGATCCAGGCTCTACCCTCAGGGCT TCATGACCTGTCCTCCCACATGATCCAGGCTCTACCCTCAGGGCTTCATG ACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTG TCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTC CCACGTGATCCAGGCTCTACCCTGAGGGCTTCATGACCTGTCCTCCCAC	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding	17/21			chr21	TogoVar
LSS_chr21_46183446_46233774	46201373	G G	GAGGGTAG others(218): Show GAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGG TAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAG CCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGG ATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCAC GTGGGAGGACAGGTCATGAAGCCCTC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19065.hp2 NA19070.hp1 NA18957.hp2 NA19065.hp2 NA19070.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0026 a0001c0004t0003g0141 a0001c0004t0003g0026 a0001c0004t0003g0141	3	358	0.0084	225	c.167 others(244): Show c.1670+4462_1670+4463insGAGGGCTTCATGACCTGTCCTCCCAC GTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGAT CCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGG CTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTA CCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCT	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding	17/21			chr21	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTAACTT others(218): Show ACTAACTTTCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCT TTCTTTCCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	225	c.40 others(236): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGA AAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGA AAGAAAGGAAAGAAAGGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAGGA AAGAAAGGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGTTAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
MAML3_chr4_139711753_140159184	140019098	T T	TTTTTTTT others(218): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03195.hp1 HG02257.hp2 HG03195.hp1	a0001 a0005 a0001 a0005	a0001c0010 a0005c0008 a0001c0010 a0005c0008	a0001c0010t0001 a0005c0008t0002 a0001c0010t0001 a0005c0008t0002	a0001c0010t0001g0055 a0005c0008t0002g0095 a0001c0010t0001g0055 a0005c0008t0002g0095	2	152	0.0132	225	c.469 others(246): Show c.469-128132_469-128131insGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGG CGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGA CAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579289	T T	TCACCACC others(218): Show TCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCA CCACCATCACCACCACCACCATCACCACCACCACCACCATAATCACCACC ATCACCACCACCACCATCACCATCAC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	362	0.0028	225	c.391 others(240): Show c.391+802_391+803insCCATCACCACCATCACCACCACCACCACCA CCACCATCACCACCACCACCATCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAC CACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCATAA TCACCACCATCACCACCACCACCATCACCATCACCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19477860	A A	AGGGGGGA others(218): Show AGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGAGGGGGGA GGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGG GGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAG GGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGGAGAGGGGGGAGGGG GGAGAGGGACGTGAGGGGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	163	0.0061	225	c.525 others(242): Show c.525+8621_525+8622insCCCTCCCCCCCCTCACGTCCCTCTCCCC CCTCCCCCCTCTCCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCT CCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCC CCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTC CCCCCTCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCTCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MARCHF1_chr4_163519718_164389019	163836594	T T	TAAAAGAT others(218): Show TAAAAGATGCCTCCTAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGTGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCG GAGATCGCGCCACAGCACTCCAGCCTGGGCGACAAAACGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp2 HG01496.hp1 others(23): Show HG00438.hp2 HG00639.hp2 HG01496.hp1 HG01496.hp2 HG02027.hp1 HG02027.hp2 HG02080.hp2 HG02132.hp2 HG02257.hp2 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp2 NA18944.hp1 NA18952.hp1 NA18952.hp2 NA18963.hp2 NA18972.hp1 NA19009.hp2 NA19058.hp1 NA19066.hp1 NA19088.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003 a0002c0004 a0003c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0001t0023 a0001c0002t0002 a0001c0009t0012 a0002c0003t0001 a0002c0003t0005 a0002c0003t0008 a0002c0003t0010 a0002c0004t0003 a0003c0007t0001	a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0091 others(23): Show a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0091 a0001c0001t0004g0056 a0001c0001t0004g0068 a0001c0001t0004g0090 a0001c0001t0004g0100 a0001c0001t0007g0051 a0001c0001t0008g0084 a0001c0001t0010g0063 a0001c0001t0013g0015 a0001c0001t0018g0079 a0001c0001t0023g0093 a0001c0002t0002g0020 a0001c0002t0002g0023 a0001c0002t0002g0095 a0001c0002t0002g0097 a0001c0009t0012g0071 a0002c0003t0001g0005 a0002c0003t0001g0006 a0002c0003t0005g0045 a0002c0003t0008g0014 a0002c0003t0010g0058 a0002c0004t0003g0077 a0002c0004t0003g0081 a0003c0007t0001g0009	26	102	0.2549	225	c.111 others(244): Show c.111+17426_111+17427insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGTTTTGTCGCCCAGGCTGGAGTGCTGTGGCGCGATCTC CGCTCACTGCAAGCTCCGCCTTCCGGGTTCACACCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTAGGAGGCATCTTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MCTP2_chr15_94226561_94488952	94464260	T T	TATATATA others(218): Show TATATATATATTATATATATATAATATATATATATAATATATATATTATA TATATATAATATATATATAATATATATATATATTATATATATATTATATA TATATTATATATATATTATATATATATATTATATATATATTATATATATA TATTATATATATATTATATATATATATTATATATATATTATATATATATA TTATATATATATATTATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03139.hp2 HG02486.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0011 a0001c0001t0009 a0001c0001t0011	a0001c0001t0009g0030 a0001c0001t0011g0028 a0001c0001t0009g0030 a0001c0001t0011g0028	2	276	0.0073	225	c.236 others(244): Show c.2360+6024_2360+6025insTATATATATATAATATATATATATAA TATATATATTATATATATATAATATATATATAATATATATATATATTATA TATATATTATATATATATTATATATATATTATATATATATATTATATATA TATTATATATATATATTATATATATATTATATATATATATTATATATATA TTATATATATATATTATATATATATATTATATATATATAATATATATAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MICAL3_chr22_17782649_18029561	17876811	G G	GAGAAGTT others(218): Show GAGAAGTTATGGAGGTTAGGGAGGTTATGAAGGTTAGGGAGGTTACGGAG GTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTGAGG GAGGTTATGGAGGTGAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0015 a0008c0009t0002g0016 a0008c0009t0002g0015 a0008c0009t0002g0016	2	274	0.0073	225	c.224 others(244): Show c.2242-4789_2242-4788insATAACCTCCCTCACCTCCATAACCTC CCTCACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCC CTAACCTCCATAACTGCCATAACCTCCATAACTTCCCTAACCTCCATAAC CTCCGTAACCTCCCTAACCTTCATAACCTCCCTAACCTCCATAACTTCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876901	G G	GGGAGATT others(218): Show GGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAG GTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTAT GGAGGTTAGGGAGATTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATG GAGGTTAGGGAGGTGAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0073 a0001c0001t0007g0073	1	274	0.0037	225	c.224 others(244): Show c.2242-4879_2242-4878insATAACCTCCCTCACCTCCCTAACCTC CATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCATAACTTCCCTAACCTCCATAATCTCCCTAACCTCC ATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAAC CTCCATAAGCTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876901	G G	GGGAGCTT others(218): Show GGGAGCTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTAT GGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAG TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGG GAGGTTATGGAGGTTAGGGAAGTTAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0014 a0002c0005t0014	a0002c0005t0014g0001 a0002c0005t0014g0001	1	274	0.0037	225	c.224 others(244): Show c.2242-4879_2242-4878insATAACTTCCCTAACCTCCATAACCTC CCTAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAA CTTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCC ATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAGCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876968	G G	GCTTATGG others(218): Show GCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTA GGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGAAGGTTAGGGAA GTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTAT GGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGG TTAGGGAAGTTATGGAGGTTATGGCA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0013 a0007c0013t0013	a0007c0013t0013g0026 a0007c0013t0013g0026	1	274	0.0037	225	c.224 others(244): Show c.2242-4946_2242-4945insTGCCATAACCTCCATAACTTCCCTAA CCTCCCTAACCTCCATAACTTCCCTAACCTCCTTAACCTCCCTAACCTCC ATAAGCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAAC TTCCCTAACCTTCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCC TAACCTCCATAACTTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAG	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877009	T T	TGGAGGTG others(218): Show TGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGATTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTGAG GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTAGGGAGGTGAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0109 a0001c0001t0005g0109	1	274	0.0037	225	c.224 others(244): Show c.2242-4987_2242-4986insCTCACCTCCCTAACCTCCCTAACCTC CATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAA CCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCC CTCACCTCCATAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAAC CTCCATAATCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877070	T T	TAGGGAGG others(218): Show TAGGGAGGTTACGAAGGTTAGGGAGGTTACGGAGGTTATGGAGGTTAGGG AAGTTAGGGAGGTGAGGGAGGTTAGGGAGGTGAGGGAGGTTAGGGAGGTT ATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGA GGTTAGGGAGGTTATGGAGGTTAGGGAAGTTAGGGAGGTTATGGAGGTTA GGGAGGTTATGGAGGTTAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0001 a0014c0019t0001	a0014c0019t0001g0014 a0014c0019t0001g0014	1	274	0.0037	225	c.224 others(244): Show c.2242-5048_2242-5047insCACCTCCCTAACCTCCATAACCTCCC TAACCTCCATAACCTCCCTAACTTCCCTAACCTCCATAACCTCCCTAACC TCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACCTCCCTAACCTCCCTCACCTCCCTAACCTCCCTCACCTCCCTAACTT CCCTAACCTCCATAACCTCCGTAACCTCCCTAACCTTCGTAACCTCCCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar

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