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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
VSNL1_chr2_17535696_17662018	17642309	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	71	0.0141	18	c.163 others(35): Show c.163-7084_163-7083insTTTTTTTTTTTTTTTTTT	VSNL1	ENSG00000163032.12	transcript	ENST00000295156.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
VSTM2B_chr19_29520994_29569551	29537703	A A	ACACCCAC others(11): Show ACACCCACCTACTCTCCCG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01496.hp2 HG02896.hp2 others(2): Show HG01257.hp2 HG01496.hp2 HG02896.hp2 HG02965.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0004t0003 a0001c0001t0001 a0001c0004t0001 a0001c0004t0003	a0001c0001t0001g0180 a0001c0001t0001g0214 a0001c0001t0001g0244 others(2): Show a0001c0001t0001g0180 a0001c0001t0001g0214 a0001c0001t0001g0244 a0001c0004t0001g0193 a0001c0004t0003g0194	5	361	0.0139	18	c.769 others(35): Show c.769+7456_769+7473dupCCTACTCTCCCGCACCCA	VSTM2B	ENSG00000187135.8	transcript	ENST00000335523.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
VSTM4_chr10_49009236_49120522	49096622	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp1 HG02723.hp1 others(1): Show HG02109.hp1 HG02630.hp1 HG02723.hp1 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0199 a0001c0003t0004g0200 a0001c0003t0004g0207 others(1): Show a0001c0003t0004g0199 a0001c0003t0004g0200 a0001c0003t0004g0207 a0001c0003t0004g0208	4	79	0.0506	18	c.458 others(37): Show c.458-10617_458-10600dupACACACACACACACACAC	VSTM4	ENSG00000165633.13	transcript	ENST00000332853.9	protein_coding	2/7			chr10	TogoVar
VSTM4_chr10_49009236_49120522	49114734	C C	CCCTGCTG others(11): Show CCCTGCTGCCCTGAGGCAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03041.hp2 HG03491.hp2 others(4): Show HG00639.hp2 HG03041.hp2 HG03491.hp2 HG03492.hp2 HG03942.hp1 NA18906.hp2 NA18941.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0008 others(1): Show a0001c0001 a0001c0004 a0001c0008 a0003c0006	a0001c0001t0003 a0001c0004t0006 a0001c0008t0006 others(1): Show a0001c0001t0003 a0001c0004t0006 a0001c0008t0006 a0003c0006t0006	a0001c0001t0003g0021 a0001c0004t0006g0019 a0001c0004t0006g0020 others(3): Show a0001c0001t0003g0021 a0001c0004t0006g0019 a0001c0004t0006g0020 a0001c0004t0006g0022 a0001c0008t0006g0023 a0003c0006t0006g0005	7	278	0.0252	18	c.55+ others(31): Show c.55+679_55+696dupCTGCCTCAGGGCAGCAGG	VSTM4	ENSG00000165633.13	transcript	ENST00000332853.9	protein_coding	1/7			chr10	TogoVar
VSTM5_chr11_93813232_93855618	93822804	T T	TGGCTATC others(11): Show TGGCTATCTATCAATCACG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0192 a0001c0001t0017g0192	1	358	0.0028	18	c.92- others(33): Show c.92-1499_92-1482dupCGTGATTGATAGATAGCC	VSTM5	ENSG00000214376.6	transcript	ENST00000409977.2	protein_coding	1/3			chr11	TogoVar
VSTM5_chr11_93813232_93855618	93837011	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18942.hp2 NA18947.hp2 others(10): Show NA18940.hp1 NA18942.hp2 NA18947.hp2 NA18959.hp2 NA18969.hp2 NA18971.hp1 NA18982.hp1 NA18997.hp1 NA19009.hp1 NA19060.hp1 NA19062.hp2 NA19068.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0022 a0001c0001t0004 a0001c0001t0006 a0001c0001t0022	a0001c0001t0004g0078 a0001c0001t0006g0024 a0001c0001t0006g0025 others(8): Show a0001c0001t0004g0078 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0006g0026 a0001c0001t0006g0053 a0001c0001t0006g0060 a0001c0001t0006g0061 a0001c0001t0006g0076 a0001c0001t0006g0226 a0001c0001t0006g0245 a0001c0001t0022g0075	13	34	0.3824	18	c.91+ others(35): Show c.91+13383_91+13400dupTGTGTGTGTGTGTGTGTG	VSTM5	ENSG00000214376.6	transcript	ENST00000409977.2	protein_coding	1/3			chr11	TogoVar
VSX2_chr14_74234449_74267738	74254784	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0078 a0001c0001t0007g0078	1	82	0.0122	18	c.580 others(35): Show c.580-4805_580-4804insTTTTTTTTTTTTTTTTTT	VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
VTA1_chr6_142142263_142229685	142181094	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	53	0.0189	18	c.412 others(35): Show c.412-8331_412-8330insAAAATATATATATATATA	VTA1	ENSG00000009844.16	transcript	ENST00000367630.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
VTA1_chr6_142142263_142229685	142181094	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0183 a0001c0001t0038g0183	1	53	0.0189	18	c.412 others(35): Show c.412-8331_412-8330insAATATATATATATATATA	VTA1	ENSG00000009844.16	transcript	ENST00000367630.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
VTCN1_chr1_117138587_117215927	117157092	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp2 HG02451.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0186 a0001c0001t0007g0200 a0001c0001t0007g0186 a0001c0001t0007g0200	2	127	0.0157	18	c.98- others(31): Show c.98-189_98-172dupATATATATATATATATAT	VTCN1	ENSG00000134258.18	transcript	ENST00000369458.8	protein_coding	2/5			chr1	TogoVar
VTCN1_chr1_117138587_117215927	117210212	T T	TCAGCAGC others(11): Show TCAGCAGCAGCAGCAGCAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	161	0.0062	18	c.32+ others(31): Show c.32+594_32+611dupCTGCTGCTGCTGCTGCTG	VTCN1	ENSG00000134258.18	transcript	ENST00000369458.8	protein_coding	1/5			chr1	TogoVar
VTI1A_chr10_112442215_112823744	112537311	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01109.hp2 HG02080.hp2 others(13): Show HG00621.hp2 HG01109.hp2 HG02080.hp2 HG02280.hp2 HG03225.hp1 HG03490.hp2 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 NA18612.hp1 NA19006.hp1 NA19009.hp2 NA19011.hp1 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020	a0001c0001t0001g0049 a0001c0001t0001g0078 a0001c0001t0001g0079 others(13): Show a0001c0001t0001g0049 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0001g0107 a0001c0001t0001g0120 a0001c0001t0001g0159 a0001c0001t0002g0065 a0001c0001t0002g0083 a0001c0001t0002g0115 a0001c0001t0003g0029 a0001c0001t0009g0066 a0001c0001t0014g0024 a0001c0001t0016g0074 a0001c0001t0020g0077	16	39	0.4103	18	c.343 others(33): Show c.343-925_343-908dupATATATATATATATATAT	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112611737	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03579.hp2 HG02523.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0088 a0001c0001t0008g0003 a0001c0001t0001g0088 a0001c0001t0008g0003	2	31	0.0645	18	c.428 others(37): Show c.428-56476_428-56459dupTTTTTTTTTTTTTTTTTT	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112618514	T T	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	139	0.0072	18	c.428 others(37): Show c.428-49703_428-49702insGAGAGAGAGAGAGAGAGA	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112618518	T T	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	105	0.0095	18	c.428 others(37): Show c.428-49699_428-49698insGAGAGAGAGAGAGAGAGA	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112618524	T T	TATAGAGA others(11): Show TATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03130.hp2 HG02622.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0138 a0001c0001t0006g0132 a0001c0001t0001g0138 a0001c0001t0006g0132	2	3	0.6667	18	c.428 others(37): Show c.428-49693_428-49692insTAGAGAGAGAGAGAGAGA	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112618524	T T	TATATAGA others(11): Show TATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	2	0.5000	18	c.428 others(37): Show c.428-49693_428-49692insTATAGAGAGAGAGAGAGA	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112618524	T T	TATATATA others(11): Show TATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03579.hp1 HG00140.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0097 a0001c0001t0001g0009 a0001c0001t0001g0097	2	3	0.6667	18	c.428 others(37): Show c.428-49693_428-49692insTATATATATATAGAGAGA	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112736109	G G	GTATGTAT others(11): Show GTATGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	98	0.0102	18	c.560 others(37): Show c.560+67112_560+67113insATGTATATATATATATAT	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112736111	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	56	0.0179	18	c.560 others(37): Show c.560+67123_560+67140dupATATATATATATATATAT	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112736111	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0109 a0001c0001t0004g0109	1	56	0.0179	18	c.560 others(37): Show c.560+67114_560+67115insGTATATATATATATATAT	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114246505	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02055.hp1 HG02280.hp2 others(1): Show HG01346.hp2 HG02055.hp1 HG02280.hp2 HG02486.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0003c0007 a0003c0016 others(1): Show a0003c0003 a0003c0007 a0003c0016 a0008c0009	a0003c0003t0040 a0003c0007t0014 a0003c0016t0003 others(1): Show a0003c0003t0040 a0003c0007t0014 a0003c0016t0003 a0008c0009t0010	a0003c0003t0040g0057 a0003c0007t0014g0008 a0003c0016t0003g0060 others(1): Show a0003c0003t0040g0057 a0003c0007t0014g0008 a0003c0016t0003g0060 a0008c0009t0010g0058	4	168	0.0238	18	c.-10 others(35): Show c.-10-2196_-10-2179dupAAAAAAAAAAAAAAAAAA	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114271608	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03516.hp2 HG03130.hp1 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0031 a0003c0003t0025 a0001c0001t0031 a0003c0003t0025	a0001c0001t0031g0144 a0003c0003t0025g0051 a0001c0001t0031g0144 a0003c0003t0025g0051	2	167	0.0120	18	c.372 others(35): Show c.372-1114_372-1097dupCACACACACACACACACA	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA3B_chr2_98082167_98318299	98129224	A A	AGAGAGTG others(11): Show AGAGAGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp1 HG01891.hp2 others(4): Show HG00609.hp2 HG00673.hp1 HG01891.hp2 HG02717.hp2 NA18906.hp1 NA18942.hp1 NA18977.hp2	a0003 a0005 a0010 others(1): Show a0003 a0005 a0010 a0023	a0003c0003 a0005c0007 a0010c0035 others(1): Show a0003c0003 a0005c0007 a0010c0035 a0023c0034	a0003c0003t0003 a0005c0007t0004 a0010c0035t0004 others(1): Show a0003c0003t0003 a0005c0007t0004 a0010c0035t0004 a0023c0034t0022	a0003c0003t0003g0049 a0003c0003t0003g0056 a0003c0003t0003g0065 others(4): Show a0003c0003t0003g0049 a0003c0003t0003g0056 a0003c0003t0003g0065 a0003c0003t0003g0072 a0005c0007t0004g0066 a0010c0035t0004g0064 a0023c0034t0022g0079	7	117	0.0598	18	c.872 others(33): Show c.872+817_872+818insAGAGTGTGTGTGTGTGTG	VWA3B	ENSG00000168658.20	transcript	ENST00000477737.6	protein_coding	6/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
VWA3B_chr2_98082167_98318299	98166799	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp2 HG01168.hp1 others(29): Show HG01081.hp2 HG01099.hp2 HG01168.hp1 HG01358.hp1 HG01361.hp1 HG01981.hp2 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02300.hp2 HG02486.hp1 HG02615.hp2 HG02698.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03471.hp2 HG03927.hp2 HG04184.hp2 NA18522.hp2 NA18941.hp2 NA18945.hp2 NA18963.hp2 NA18986.hp1 NA19056.hp1 NA19080.hp1 NA19090.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0022	a0001c0001 a0001c0004 a0002c0002 others(6): Show a0001c0001 a0001c0004 a0002c0002 a0002c0006 a0002c0012 a0002c0016 a0003c0003 a0005c0007 a0022c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0016 a0001c0004t0003 a0001c0004t0004 a0001c0004t0013 a0002c0002t0004 a0002c0002t0021 a0002c0006t0004 a0002c0012t0004 a0002c0016t0020 a0003c0003t0003 a0003c0003t0005 a0005c0007t0019 a0022c0023t0002	a0001c0001t0001g0083 a0001c0001t0001g0132 a0001c0001t0001g0133 others(29): Show a0001c0001t0001g0083 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0003g0238 a0001c0001t0007g0140 a0001c0001t0007g0141 a0001c0001t0007g0142 a0001c0001t0016g0146 a0001c0004t0003g0010 a0001c0004t0003g0013 a0001c0004t0003g0020 a0001c0004t0003g0044 a0001c0004t0004g0018 a0001c0004t0013g0029 a0002c0002t0004g0022 a0002c0002t0021g0006 a0002c0006t0004g0019 a0002c0012t0004g0007 a0002c0016t0020g0031 a0003c0003t0003g0048 a0003c0003t0003g0050 a0003c0003t0005g0058 a0003c0003t0005g0060 a0003c0003t0005g0080 a0005c0007t0019g0059 a0022c0023t0002g0148	32	46	0.6957	18	c.111 others(37): Show c.1114+3832_1114+3849dupACACACACACACACACAC	VWA3B	ENSG00000168658.20	transcript	ENST00000477737.6	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
VWA3B_chr2_98082167_98318299	98185215	G G	GCTATTCC others(11): Show GCTATTCCCACCCATCTGT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02165.hp2 HG02056.hp1 HG02165.hp2	a0017 a0018 a0017 a0018	a0017c0027 a0018c0028 a0017c0027 a0018c0028	a0017c0027t0002 a0018c0028t0002 a0017c0027t0002 a0018c0028t0002	a0017c0027t0002g0215 a0018c0028t0002g0216 a0017c0027t0002g0215 a0018c0028t0002g0216	2	238	0.0084	18	c.131 others(37): Show c.1312-2757_1312-2740dupATTCCCACCCATCTGTCT	VWA3B	ENSG00000168658.20	transcript	ENST00000477737.6	protein_coding	9/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
VWA3B_chr2_98082167_98318299	98202447	G G	GAAATTTG others(11): Show GAAATTTGTTTCAAGAAAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02109.hp2 HG01358.hp1 HG02109.hp2	a0002 a0002	a0002c0012 a0002c0016 a0002c0012 a0002c0016	a0002c0012t0004 a0002c0016t0020 a0002c0012t0004 a0002c0016t0020	a0002c0012t0004g0007 a0002c0016t0020g0031 a0002c0012t0004g0007 a0002c0016t0020g0031	2	238	0.0084	18	c.173 others(37): Show c.1737+7958_1737+7959insTTTGTTTCAAGAAACAAA	VWA3B	ENSG00000168658.20	transcript	ENST00000477737.6	protein_coding	12/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
VWA3B_chr2_98082167_98318299	98248876	T T	TCTTTCTT others(11): Show TCTTTCTTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	238	0.0042	18	c.267 others(37): Show c.2674-1442_2674-1441insCTTTCTTTCCTTTCTTTC	VWA3B	ENSG00000168658.20	transcript	ENST00000477737.6	protein_coding	19/27			chr2	TogoVar
VWA5A_chr11_124110450_124152721	124114503	G G	GTATATAT others(11): Show GTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 NA19074.hp2 NA19086.hp1 HG00735.hp2 NA19074.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0115 a0001c0001t0001g0001 a0001c0001t0003g0115	3	82	0.0366	18	c.-11 others(29): Show c.-1110_-1109insTATATATATATATATATA	VWA5A	ENSG00000110002.16	transcript	ENST00000456829.7	protein_coding		946		chr11	TogoVar
VWA5B1_chr1_20285875_20364518	20291359	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03491.hp1 HG03130.hp1 HG03491.hp1	a0002 a0022 a0002 a0022	a0002c0002 a0022c0041 a0002c0002 a0022c0041	a0002c0002t0012 a0022c0041t0045 a0002c0002t0012 a0022c0041t0045	a0002c0002t0012g0258 a0022c0041t0045g0171 a0002c0002t0012g0258 a0022c0041t0045g0171	2	59	0.0339	18	c.-27 others(33): Show c.-27+281_-27+298dupCTCTCTCTCTCTCTCTCT	VWA5B1	ENSG00000158816.16	transcript	ENST00000289815.13	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
VWA5B1_chr1_20285875_20364518	20291359	T T	TTCTTTCT others(11): Show TTCTTTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0307 a0002c0002t0001g0307	1	58	0.0172	18	c.-27 others(33): Show c.-27+274_-27+275insTTCTCTCTCTCTCTCTCT	VWA5B1	ENSG00000158816.16	transcript	ENST00000289815.13	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
VWA5B1_chr1_20285875_20364518	20291359	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19080.hp2 HG02040.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0106 a0001c0001t0002g0107	2	59	0.0339	18	c.-27 others(33): Show c.-27+274_-27+275insTTCTTTCTCTCTCTCTCT	VWA5B1	ENSG00000158816.16	transcript	ENST00000289815.13	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
VWA5B1_chr1_20285875_20364518	20291359	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTCTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02109.hp2 HG02559.hp1 others(1): Show HG01106.hp2 HG02109.hp2 HG02559.hp1 HG03041.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0010 a0004c0004t0006 a0001c0001t0010 a0004c0004t0006	a0001c0001t0010g0123 a0001c0001t0010g0124 a0004c0004t0006g0125 others(1): Show a0001c0001t0010g0123 a0001c0001t0010g0124 a0004c0004t0006g0125 a0004c0004t0006g0126	4	61	0.0656	18	c.-27 others(33): Show c.-27+274_-27+275insTTCTTTCTTTCTCTCTCT	VWA5B1	ENSG00000158816.16	transcript	ENST00000289815.13	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
VWA8_chr13_41561835_41966109	41573486	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03710.hp1 HG02523.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0060 a0001c0001t0001g0027 a0001c0001t0001g0060	2	133	0.0150	18	c.537 others(37): Show c.5370+2253_5370+2254insATATATATATATATATTT	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	43/44			chr13	TogoVar
VWA8_chr13_41561835_41966109	41784727	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA18970.hp1 HG02273.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0037 a0002c0002t0001g0054 a0002c0002t0001g0037 a0002c0002t0001g0054	2	151	0.0132	18	c.217 others(35): Show c.2171-827_2171-826insGTATATATATATATATAT	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	18/44			chr13	TogoVar
VWA8_chr13_41561835_41966109	41784729	T T	TATATATA others(11): Show TATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA19003.hp1 HG01074.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0052 a0002c0002t0001g0046 a0002c0002t0001g0052	2	169	0.0118	18	c.217 others(35): Show c.2171-829_2171-828insGTATGTATATATATATAT	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	18/44			chr13	TogoVar
VWA8_chr13_41561835_41966109	41784745	T T	TATATATA others(11): Show TATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03704.hp2 HG03710.hp1 others(1): Show HG02523.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0060 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0060 a0001c0001t0001g0081	4	247	0.0162	18	c.217 others(35): Show c.2171-845_2171-844insGTGTGTGTATATATATAT	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	18/44			chr13	TogoVar
VWA8_chr13_41561835_41966109	41787607	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0059 a0001c0001t0011g0059	1	28	0.0357	18	c.206 others(33): Show c.2064-82_2064-65dupGTGTGTGTGTGTGTGTGT	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	17/44			chr13	TogoVar
VWA8_chr13_41561835_41966109	41841820	A A	AAAAAAAA others(11): Show AAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	173	0.0058	18	c.142 others(37): Show c.1426-8290_1426-8289insATATATATTTTTTTTTTT	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	12/44			chr13	TogoVar
VWC2L_chr2_214406054_214583976	214421885	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01361.hp1 HG02145.hp2 others(7): Show HG01099.hp2 HG01361.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp2 HG02615.hp2 HG03471.hp1 HG03516.hp2 NA18939.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0019	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(7): Show a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0133 a0001c0001t0002g0277 a0001c0001t0003g0268 a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0019g0118	10	120	0.0833	18	c.390 others(35): Show c.390+7309_390+7326dupTTTTTTTTTTTTTTTTTT	VWC2L	ENSG00000174453.10	transcript	ENST00000312504.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
VWC2L_chr2_214406054_214583976	214433159	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01081.hp2 HG01255.hp1 others(8): Show HG00408.hp1 HG01081.hp2 HG01255.hp1 HG01496.hp1 HG01975.hp1 HG01981.hp1 HG02132.hp1 HG03688.hp1 NA18747.hp1 NA18990.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0027 a0001c0001t0001 a0001c0001t0002 a0001c0001t0027	a0001c0001t0001g0013 a0001c0001t0001g0078 a0001c0001t0001g0094 others(8): Show a0001c0001t0001g0013 a0001c0001t0001g0078 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0002g0087 a0001c0001t0027g0091	11	88	0.1250	18	c.391 others(35): Show c.391-3463_391-3446dupATATATATATATATATAT	VWC2L	ENSG00000174453.10	transcript	ENST00000312504.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
VWC2L_chr2_214406054_214583976	214561784	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03540.hp1 HG03579.hp1 HG03225.hp1 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0001t0003 a0001c0002t0004	a0001c0001t0003g0279 a0001c0002t0004g0149 a0001c0002t0004g0270 a0001c0001t0003g0279 a0001c0002t0004g0149 a0001c0002t0004g0270	3	83	0.0361	18	c.521 others(37): Show c.521-13879_521-13862dupTATATATATATATATATA	VWC2L	ENSG00000174453.10	transcript	ENST00000312504.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
VWC2L_chr2_214406054_214583976	214561809	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02818.hp1 HG02818.hp2 others(1): Show HG02717.hp2 HG02818.hp1 HG02818.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0079 a0001c0001t0002g0140 a0001c0001t0002g0163 others(1): Show a0001c0001t0001g0079 a0001c0001t0002g0140 a0001c0001t0002g0163 a0001c0001t0010g0065	4	204	0.0196	18	c.521 others(37): Show c.521-13862_521-13861insTATATATATATATATACA	VWC2L	ENSG00000174453.10	transcript	ENST00000312504.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
VWC2_chr7_49768638_49926950	49877481	A A	AAAAAATA others(11): Show AAAAAATATACATATATAT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	88	0.0114	18	c.827 others(37): Show c.827-34552_827-34551insAAAATATACATATATATA	VWC2	ENSG00000188730.5	transcript	ENST00000340652.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VWC2_chr7_49768638_49926950	49877481	A A	AAAATATA others(11): Show AAAATATACATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02559.hp2 NA18747.hp1 HG01943.hp2 HG02559.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0001 a0001c0001t0002 a0001c0001t0015	a0001c0001t0001g0193 a0001c0001t0002g0194 a0001c0001t0015g0109 a0001c0001t0001g0193 a0001c0001t0002g0194 a0001c0001t0015g0109	3	90	0.0333	18	c.827 others(37): Show c.827-34552_827-34551insAATATACATATATATATA	VWC2	ENSG00000188730.5	transcript	ENST00000340652.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VWC2_chr7_49768638_49926950	49911923	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02486.hp1 others(4): Show HG02257.hp1 HG02258.hp2 HG02486.hp1 HG03209.hp1 HG03225.hp2 NA18906.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0002c0002t0003 a0003c0003t0006	a0001c0001t0001g0008 a0001c0001t0003g0184 a0001c0001t0011g0222 others(4): Show a0001c0001t0001g0008 a0001c0001t0003g0184 a0001c0001t0011g0222 a0002c0002t0003g0052 a0002c0002t0003g0092 a0003c0003t0006g0243 a0003c0003t0006g0244	7	48	0.1458	18	c.827 others(32): Show c.827-104_827-87dupCACACACACACACACACA	VWC2	ENSG00000188730.5	transcript	ENST00000340652.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VWC2_chr7_49768638_49926950	49911923	G G	GCGCGCAC others(11): Show GCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0004 a0001c0001t0054g0004	1	42	0.0238	18	c.827 others(33): Show c.827-110_827-109insGCGCACACACACACACAC	VWC2	ENSG00000188730.5	transcript	ENST00000340652.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VWF_chr12_5943877_6129670	5999471	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03041.hp2 NA21309.hp2 HG02723.hp1 HG03041.hp2 NA21309.hp2	a0012 a0032 a0012 a0032	a0012c0094 a0032c0041 a0012c0094 a0032c0041	a0012c0094t0001 a0032c0041t0001 a0012c0094t0001 a0032c0041t0001	a0012c0094t0001g0248 a0032c0041t0001g0012 a0032c0041t0001g0247 a0012c0094t0001g0248 a0032c0041t0001g0012 a0032c0041t0001g0247	3	115	0.0261	18	c.584 others(37): Show c.5843-3267_5843-3250dupGTGTGTGTGTGTGTGTGT	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	34/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6055761	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02630.hp1 HG03942.hp1 others(4): Show HG02132.hp2 HG02630.hp1 HG03942.hp1 NA18971.hp2 NA19064.hp1 NA19065.hp2 NA19080.hp2	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0031	a0001c0010 a0002c0001 a0002c0031 others(2): Show a0001c0010 a0002c0001 a0002c0031 a0011c0039 a0031c0106	a0001c0010t0001 a0002c0001t0001 a0002c0031t0001 others(2): Show a0001c0010t0001 a0002c0001t0001 a0002c0031t0001 a0011c0039t0001 a0031c0106t0001	a0001c0010t0001g0171 a0002c0001t0001g0235 a0002c0001t0001g0261 others(4): Show a0001c0010t0001g0171 a0002c0001t0001g0235 a0002c0001t0001g0261 a0002c0031t0001g0030 a0002c0031t0001g0060 a0011c0039t0001g0057 a0031c0106t0001g0081	7	25	0.2800	18	c.194 others(37): Show c.1945+1078_1945+1095dupGTGTGTGTGTGTGTGTGT	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	15/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6092614	T T	TGAGTGAG others(11): Show TGAGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG03942.hp1 HG02148.hp1 HG03942.hp1	a0002 a0002	a0002c0001 a0002c0011 a0002c0001 a0002c0011	a0002c0001t0001 a0002c0011t0001 a0002c0001t0001 a0002c0011t0001	a0002c0001t0001g0235 a0002c0011t0001g0204 a0002c0001t0001g0235 a0002c0011t0001g0204	2	167	0.0120	18	c.657 others(35): Show c.657+2845_657+2846insTCTCTCTCTCTCTCACTC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51			chr12	TogoVar

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