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
VPS54_chr2_63887150_64024428	63938059	G G	GGTGTGTG others(29): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	103	0.0097	36	c.139 others(55): Show c.1399-4047_1399-4046insACACACACACACACACACACACACAC ACACACACAC	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	11/22			chr2	TogoVar
VPS8_chr3_184807166_185057604	184842186	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0103	1	100	0.0100	36	c.536 others(53): Show c.536-1031_536-1030insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184984194	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAACTCACCAAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp1 HG01169.hp2 others(12): Show HG01099.hp1 HG01109.hp1 HG01169.hp2 HG01952.hp1 HG02015.hp2 HG02109.hp2 HG03239.hp1 HG03239.hp2 NA18941.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18979.hp1 NA18986.hp1 NA18989.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0004c0006 a0009c0014 a0001c0001 a0004c0006 a0009c0014	a0001c0001t0002 a0004c0006t0003 a0009c0014t0002 a0001c0001t0002 a0004c0006t0003 a0009c0014t0002	a0001c0001t0002g0099 a0001c0001t0002g0112 a0001c0001t0002g0123 others(12): Show a0001c0001t0002g0099 a0001c0001t0002g0112 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0162 a0001c0001t0002g0188 a0001c0001t0002g0201 a0004c0006t0003g0046 a0009c0014t0002g0121 a0009c0014t0002g0195	15	16	0.9375	36	c.358 others(55): Show c.3585+1100_3585+1101insAAAAAAAAAAAAAAAAAAAAAAAAAA ACTCACCAAG	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	42/47			chr3	TogoVar
VRK1_chr14_96792382_96886609	96808002	C C	CCTCTCTC others(29): Show CCTCTCTCCGTCTCTCTCCCTCTCTCCCTCTCTCCGT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03540.hp2 HG02602.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0089 a0001c0002t0001g0090	2	172	0.0116	36	c.-6+ others(53): Show c.-6+10562_-6+10563insCGTCTCTCTCCCTCTCTCCCTCTCTCCG TCTCTCTC	VRK1	ENSG00000100749.9	transcript	ENST00000216639.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
VRTN_chr14_74343471_74365008	74344246	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA19063.hp1 NA20129.hp2 NA18940.hp1 NA19063.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0004g0001 a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0004g0001	3	6	0.5000	36	c.-44 others(47): Show c.-4408_-4407insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	VRTN	ENSG00000133980.5	transcript	ENST00000256362.5	protein_coding		4224		chr14	TogoVar
VSIG10_chr12_118058593_118109011	118098228	T T	TGCCTCTC others(29): Show TGCCTCTCCCTCTCTCTCCGCCTCTCCCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 NA18957.hp1 HG03490.hp2 HG03492.hp1 NA18957.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0005 a0001c0004 a0003c0005	a0001c0004t0003 a0003c0005t0002 a0001c0004t0003 a0003c0005t0002	a0001c0004t0003g0165 a0003c0005t0002g0007 a0001c0004t0003g0165 a0003c0005t0002g0007	3	88	0.0341	36	c.80- others(51): Show c.80-2450_80-2415dupGGAGAGAGAGGGAGAGGCGGAGAGAGAGGG AGAGGC	VSIG10	ENSG00000176834.14	transcript	ENST00000359236.10	protein_coding	1/8			chr12	TogoVar
VSIR_chr10_71742556_71778520	71759846	C C	CACACACA others(29): Show CACACACACACACACACATATACACACACACACACAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0092 a0001c0004t0092	a0001c0004t0092g0230 a0001c0004t0092g0230	1	249	0.0040	36	c.568 others(53): Show c.568+1021_568+1022insATGTGTGTGTGTGTGTATATGTGTGTGT GTGTGTGT	VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6			chr10	TogoVar
VSTM2B_chr19_29520994_29569551	29537703	A A	ACACCCAC others(29): Show ACACCCACCTACTCTCCCGCACCCACCTACTCTCCCG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG02258.hp2 others(15): Show HG00639.hp2 HG01243.hp2 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02738.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03579.hp1 HG04228.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0068 others(11): Show a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0213 a0001c0001t0001g0253 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0354 a0001c0003t0001g0013 a0001c0004t0001g0030	18	374	0.0481	36	c.769 others(53): Show c.769+7438_769+7473dupCCTACTCTCCCGCACCCACCTACTCTCC CGCACCCA	VSTM2B	ENSG00000187135.8	transcript	ENST00000335523.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
VSTM2B_chr19_29520994_29569551	29537751	T T	TCTCCCGC others(29): Show TCTCCCGCACCCACCTACTCTCCCGCACCCACCTACC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01256.hp1 HG01258.hp2 others(11): Show HG00741.hp2 HG01256.hp1 HG01258.hp2 HG01884.hp2 HG02109.hp2 HG02809.hp2 HG02970.hp2 HG03098.hp2 HG03239.hp1 HG03490.hp2 HG04228.hp1 NA18906.hp2 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0011 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0014 a0001c0001t0001g0089 a0001c0001t0001g0101 others(9): Show a0001c0001t0001g0014 a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0011g0297 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0005t0001g0015	14	405	0.0346	36	c.769 others(53): Show c.769+7473_769+7474insCCTACTCTCCCGCACCCACCTACCCTCC CGCACCCA	VSTM2B	ENSG00000187135.8	transcript	ENST00000335523.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
VSX2_chr14_74234449_74267738	74244901	T T	TGTGTGTG others(29): Show TGTGTGTGTGAAAGAGAGAGAGAAAGAGAGAGAGAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp1 HG02040.hp1 HG00741.hp2 HG01106.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0194 a0001c0002t0001g0196 a0001c0002t0001g0218 a0001c0002t0001g0194 a0001c0002t0001g0196 a0001c0002t0001g0218	3	368	0.0082	36	c.456 others(51): Show c.456-255_456-254insAAAGAGAGAGAGAAAGAGAGAGAGAAAGTG TGTGTG	VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
VSX2_chr14_74234449_74267738	74244901	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGAAAGAGAGAGAGAAAGAGAGAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0211 a0001c0002t0001g0211	1	366	0.0027	36	c.456 others(51): Show c.456-251_456-250insAAAGAGAGAGAGAAAGAGAGAAAGTGTGTG TGTGTG	VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
VSX2_chr14_74234449_74267738	74244903	T T	TGTGTGTG others(29): Show TGTGTGTGTGAAAGAGAGAGAGAAAGAGAGAGAGAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00738.hp2 others(10): Show HG00140.hp1 HG00639.hp2 HG00738.hp2 HG01261.hp1 HG01515.hp1 HG03490.hp2 HG03492.hp1 HG04228.hp2 NA19056.hp2 NA19080.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0014 a0001c0002t0001g0015 others(4): Show a0001c0002t0001g0009 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0063 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0232	13	415	0.0313	36	c.456 others(51): Show c.456-253_456-252insAAAGAGAGAGAGAAAGAGAGAGAGAAAGTG TGTGTG	VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
VSX2_chr14_74234449_74267738	74244957	T T	TGTGTGTG others(29): Show TGTGTGTGTGAGAGAGAGAGAGAAAGAGAGAGAGAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01496.hp1 HG02109.hp1 others(8): Show HG01175.hp2 HG01496.hp1 HG02109.hp1 HG02145.hp1 HG03209.hp2 NA18949.hp1 NA18961.hp1 NA18964.hp1 NA18969.hp2 NA18970.hp1 NA18989.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0036 a0001c0001t0001g0070 a0001c0001t0001g0071 others(8): Show a0001c0001t0001g0036 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0172 a0002c0003t0001g0149	11	418	0.0263	36	c.456 others(51): Show c.456-199_456-198insAGAGAGAGAGAGAAAGAGAGAGAGAAAGTG TGTGTG	VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
VSX2_chr14_74234449_74267738	74244959	T T	TGTGTGTG others(29): Show TGTGTGTGTGAGAGAGAGAGAGAAAGAGAGAGAGAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02257.hp2 others(4): Show HG02055.hp1 HG02109.hp2 HG02257.hp2 HG02615.hp1 HG02723.hp2 HG04204.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0219 others(3): Show a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0017g0222	7	270	0.0259	36	c.456 others(51): Show c.456-197_456-196insAGAGAGAGAGAGAAAGAGAGAGAGAAAGTG TGTGTG	VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
VTCN1_chr1_117138587_117215927	117157092	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	126	0.0079	36	c.98- others(49): Show c.98-172_98-171insATATATATATATATATATATATATATATATAT ATAT	VTCN1	ENSG00000134258.18	transcript	ENST00000369458.8	protein_coding	2/5			chr1	TogoVar
VTCN1_chr1_117138587_117215927	117205009	T T	TACGCATA others(29): Show TACGCATATATACACATATATATACATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG02976.hp1 others(1): Show HG02258.hp1 HG02647.hp1 HG02976.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011	a0001c0001t0001g0019 a0001c0001t0003g0020 a0001c0001t0005g0018 others(1): Show a0001c0001t0001g0019 a0001c0001t0003g0020 a0001c0001t0005g0018 a0001c0001t0011g0017	4	246	0.0163	36	c.32+ others(51): Show c.32+5814_32+5815insGTATATATATATGTATATATATGTGTATAT ATGCGT	VTCN1	ENSG00000134258.18	transcript	ENST00000369458.8	protein_coding	1/5			chr1	TogoVar
VTI1A_chr10_112442215_112823744	112455161	T T	TCCTCCCC others(29): Show TCCTCCCCTCCTCTCTCCCCCTCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	164	0.0061	36	c.95- others(51): Show c.95-5351_95-5350insTCTCCCCCTCCTCCCCTCCCCTCCCCTCCC CTCCTC	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112618524	T T	TATAGAGA others(29): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	2	0.5000	36	c.428 others(55): Show c.428-49693_428-49692insTAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA3A_chr16_22087541_22161964	22115832	G G	GGGAAGGA others(29): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02896.hp1 NA20129.hp1 HG00140.hp2 HG02896.hp1 NA20129.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0003c0015 a0004c0004 a0003c0003 a0003c0015 a0004c0004	a0003c0003t0001 a0003c0015t0001 a0004c0004t0001 a0003c0003t0001 a0003c0015t0001 a0004c0004t0001	a0003c0003t0001g0112 a0003c0015t0001g0178 a0004c0004t0001g0095 a0003c0003t0001g0112 a0003c0015t0001g0178 a0004c0004t0001g0095	3	237	0.0127	36	c.815 others(51): Show c.815+417_815+452dupGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAA	VWA3A	ENSG00000175267.15	transcript	ENST00000389398.10	protein_coding	9/33		INFO_REALIGN_3_PRIME	chr16	TogoVar
VWA8_chr13_41561835_41966109	41573618	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0009 a0004c0006t0009	a0004c0006t0009g0214 a0004c0006t0009g0214	1	248	0.0040	36	c.537 others(55): Show c.5370+2121_5370+2122insCCATATATATATATATATATATATAT ATATATATAT	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	43/44			chr13	TogoVar
VWC2L_chr2_214406054_214583976	214433159	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	78	0.0128	36	c.391 others(53): Show c.391-3446_391-3445insATATATATATATATATATATATATATAT ATATATAT	VWC2L	ENSG00000174453.10	transcript	ENST00000312504.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
VWC2_chr7_49768638_49926950	49877481	A A	AAAAAATA others(29): Show AAAAAATATACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01255.hp2 HG01517.hp2 others(3): Show HG00609.hp1 HG01255.hp2 HG01517.hp2 HG03669.hp2 HG03927.hp1 NA18946.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0189 others(3): Show a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0189 a0001c0001t0002g0201 a0002c0002t0002g0065 a0002c0002t0002g0078	6	93	0.0645	36	c.827 others(55): Show c.827-34552_827-34551insAAAATATACATATATATATATATATA TATATATATA	VWC2	ENSG00000188730.5	transcript	ENST00000340652.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VWF_chr12_5943877_6129670	6092606	T T	TTAGTTAG others(29): Show TTAGTTAGTGAGTGAGTGAGTGAGTGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0016 a0016	a0016c0068 a0016c0068	a0016c0068t0001 a0016c0068t0001	a0016c0068t0001g0200 a0016c0068t0001g0200	1	281	0.0036	36	c.657 others(53): Show c.657+2853_657+2854insTCTCTCTCTCTCACTCACTCACTCACTC ACTAACTA	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6092610	T T	TGAGAGTG others(29): Show TGAGAGTGAGAGTGAGAGTGAGAGTGAGAGTGAGAGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0022 a0022	a0022c0015 a0022c0015	a0022c0015t0001 a0022c0015t0001	a0022c0015t0001g0244 a0022c0015t0001g0244	1	249	0.0040	36	c.657 others(53): Show c.657+2849_657+2850insTCTCTCACTCTCACTCTCACTCTCACTC TCACTCTC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6092616	A A	AGTGAGTG others(29): Show AGTGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0021 a0021	a0021c0169 a0021c0169	a0021c0169t0001 a0021c0169t0001	a0021c0169t0001g0036 a0021c0169t0001g0036	1	234	0.0043	36	c.657 others(53): Show c.657+2843_657+2844insACTCTCTCTCTCTCTCTCTCTCTCTCTC TCACTCAC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6092616	A A	AGTGAGTG others(29): Show AGTGAGTGAGTGAGTGAGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03130.hp2 HG01358.hp1 HG03130.hp2	a0035 a0044 a0035 a0044	a0035c0160 a0044c0153 a0035c0160 a0044c0153	a0035c0160t0001 a0044c0153t0001 a0035c0160t0001 a0044c0153t0001	a0035c0160t0001g0082 a0044c0153t0001g0156 a0035c0160t0001g0082 a0044c0153t0001g0156	2	235	0.0085	36	c.657 others(53): Show c.657+2843_657+2844insACTCTCTCTCTCTCTCTCTCTCACTCAC TCACTCAC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6092618	A A	AGTGAGAG others(29): Show AGTGAGAGTGAGAGAGAGAGAGTGAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0052 a0052	a0052c0081 a0052c0081	a0052c0081t0001 a0052c0081t0001	a0052c0081t0001g0037 a0052c0081t0001g0037	1	189	0.0053	36	c.657 others(53): Show c.657+2841_657+2842insACACACACACACTCACTCTCTCTCTCTC ACTCTCAC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6092618	A A	AGTGAGAG others(29): Show AGTGAGAGTGAGAGTGAGAGAGAGAGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0090 a0090	a0090c0059 a0090c0059	a0090c0059t0001 a0090c0059t0001	a0090c0059t0001g0131 a0090c0059t0001g0131	1	189	0.0053	36	c.657 others(53): Show c.657+2841_657+2842insACACTCTCTCTCTCTCTCTCTCACTCTC ACTCTCAC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6092620	T T	TGAGAGTG others(29): Show TGAGAGTGAGAGTGAGAGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0016 a0016	a0016c0060 a0016c0060	a0016c0060t0001 a0016c0060t0001	a0016c0060t0001g0020 a0016c0060t0001g0020	1	145	0.0069	36	c.657 others(53): Show c.657+2839_657+2840insTCTCTCTCTCTCTCTCTCACTCTCACTC TCACTCTC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6092624	T T	TGAGTGAG others(29): Show TGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0058 a0058	a0058c0051 a0058c0051	a0058c0051t0001 a0058c0051t0001	a0058c0051t0001g0043 a0058c0051t0001g0043	1	195	0.0051	36	c.657 others(53): Show c.657+2835_657+2836insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCACTC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51			chr12	TogoVar
WASF1_chr6_110094819_110184670	110124224	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0173	1	243	0.0041	36	c.133 others(53): Show c.133+3244_133+3245insAGGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	WASF1	ENSG00000112290.13	transcript	ENST00000392589.6	protein_coding	4/10			chr6	TogoVar
WASF1_chr6_110094819_110184670	110124274	C C	CTCTCTCT others(29): Show CTCTCTCTCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	103	0.0097	36	c.133 others(53): Show c.133+3194_133+3195insTATATATATATATATATATATATATATA GAGAGAGA	WASF1	ENSG00000112290.13	transcript	ENST00000392589.6	protein_coding	4/10			chr6	TogoVar
WASF1_chr6_110094819_110184670	110124274	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	103	0.0097	36	c.133 others(53): Show c.133+3194_133+3195insTATATATATATATATATATATAGAGAGA GAGAGAGA	WASF1	ENSG00000112290.13	transcript	ENST00000392589.6	protein_coding	4/10			chr6	TogoVar
WASF1_chr6_110094819_110184670	110124274	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0179 a0001c0001t0004g0179	1	103	0.0097	36	c.133 others(53): Show c.133+3194_133+3195insTATATATATATATATATATAGAGAGAGA GAGAGAGA	WASF1	ENSG00000112290.13	transcript	ENST00000392589.6	protein_coding	4/10			chr6	TogoVar
WASF1_chr6_110094819_110184670	110124274	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	103	0.0097	36	c.133 others(53): Show c.133+3194_133+3195insTATATATATATATATATAGAGAGAGAGA GAGAGAGA	WASF1	ENSG00000112290.13	transcript	ENST00000392589.6	protein_coding	4/10			chr6	TogoVar
WASF3_chr13_26552683_26693948	26578993	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02083.hp1 NA19064.hp2 HG00099.hp2 HG02083.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0041 a0001c0001t0002g0078 a0001c0001t0002g0079	3	13	0.2308	36	c.-10 others(57): Show c.-109+21197_-109+21198insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	WASF3	ENSG00000132970.14	transcript	ENST00000335327.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
WASHC2C_chr10_45722266_45797964	45784293	C C	CACACACA others(29): Show CACACACATATATATATATATATATACACACACATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0354 a0004c0004t0002g0354	1	188	0.0053	36	c.247 others(53): Show c.2479-271_2479-270insCACACATATATATATATATATATACACA CACATATA	WASHC2C	ENSG00000172661.20	transcript	ENST00000623400.4	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr10	TogoVar
WASHC2C_chr10_45722266_45797964	45784293	C C	CACACATA others(29): Show CACACATATATATATATATATATATACACACACATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01496.hp2 HG01928.hp2 others(10): Show HG01346.hp1 HG01496.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02735.hp1 NA18950.hp2 NA20752.hp1	a0004 a0035 a0004 a0035	a0004c0004 a0035c0029 a0004c0004 a0035c0029	a0004c0004t0002 a0035c0029t0009 a0004c0004t0002 a0035c0029t0009	a0004c0004t0002g0336 a0004c0004t0002g0340 a0004c0004t0002g0341 others(10): Show a0004c0004t0002g0336 a0004c0004t0002g0340 a0004c0004t0002g0341 a0004c0004t0002g0344 a0004c0004t0002g0345 a0004c0004t0002g0347 a0004c0004t0002g0348 a0004c0004t0002g0350 a0004c0004t0002g0352 a0004c0004t0002g0355 a0004c0004t0002g0356 a0004c0004t0002g0361 a0035c0029t0009g0113	13	200	0.0650	36	c.247 others(53): Show c.2479-271_2479-270insCACATATATATATATATATATATACACA CACATATA	WASHC2C	ENSG00000172661.20	transcript	ENST00000623400.4	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr10	TogoVar
WASHC2C_chr10_45722266_45797964	45784293	C C	CACATATA others(29): Show CACATATATATATATATATATATACACACACATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0004 a0004	a0004c0022 a0004c0022	a0004c0022t0002 a0004c0022t0002	a0004c0022t0002g0338 a0004c0022t0002g0338	1	188	0.0053	36	c.247 others(53): Show c.2479-271_2479-270insCATATATATATATATATATATACACACA CATATATA	WASHC2C	ENSG00000172661.20	transcript	ENST00000623400.4	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr10	TogoVar
WASL_chr7_123676943_123754003	123735019	C C	CAGTCCTT others(29): Show CAGTCCTTCAAATATAAATATAAACAAACAACCAAGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0272 a0001c0002t0001g0272	1	354	0.0028	36	c.117 others(55): Show c.117+13563_117+13598dupTCTTGGTTGTTTGTTTATATTTATAT TTGAAGGACT	WASL	ENSG00000106299.8	transcript	ENST00000223023.5	protein_coding	1/10			chr7	TogoVar
WBP2NL_chr22_41993788_42033475	42008088	C C	CTTTCCTT others(29): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	238	0.0042	36	c.62+ others(51): Show c.62+9210_62+9211insTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTT	WBP2NL	ENSG00000183066.14	transcript	ENST00000328823.13	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
WDFY4_chr10_48679873_48987956	48787807	C C	CTCTTCTT others(29): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0080 a0080	a0080c0071 a0080c0071	a0080c0071t0003 a0080c0071t0003	a0080c0071t0003g0166 a0080c0071t0003g0166	1	115	0.0087	36	c.380 others(53): Show c.3809-706_3809-671dupCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTT	WDFY4	ENSG00000128815.20	transcript	ENST00000325239.12	protein_coding	20/61		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDFY4_chr10_48679873_48987956	48923496	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02886.hp1 HG01891.hp1 HG02886.hp1	a0047 a0062 a0047 a0062	a0047c0062 a0062c0122 a0047c0062 a0062c0122	a0047c0062t0002 a0062c0122t0005 a0047c0062t0002 a0062c0122t0005	a0047c0062t0002g0143 a0062c0122t0005g0149 a0047c0062t0002g0143 a0062c0122t0005g0149	2	154	0.0130	36	c.758 others(57): Show c.7587-18293_7587-18292insATATATATATATATATATATATAT ATATATATATAT	WDFY4	ENSG00000128815.20	transcript	ENST00000325239.12	protein_coding	47/61		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDFY4_chr10_48679873_48987956	48923500	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0051 a0051	a0051c0116 a0051c0116	a0051c0116t0001 a0051c0116t0001	a0051c0116t0001g0177 a0051c0116t0001g0177	1	200	0.0050	36	c.758 others(57): Show c.7587-18293_7587-18292insATATATATATATATATATATATGT ATATATATATAT	WDFY4	ENSG00000128815.20	transcript	ENST00000325239.12	protein_coding	47/61		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDPCP_chr2_63114559_63593477	63313868	A A	ATATATGT others(29): Show ATATATGTGTGTGTATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0193 a0001c0001t0008g0193	1	75	0.0133	36	c.174 others(53): Show c.1749-558_1749-557insCACACACATATATATATATATATACACA CACATATA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	12/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63313868	A A	ATATATGT others(29): Show ATATATGTGTGTGTATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0123 a0001c0001t0003g0123	1	75	0.0133	36	c.174 others(53): Show c.1749-558_1749-557insCACACACACATATATATATATATACACA CACATATA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	12/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63313868	A A	ATATGTGT others(29): Show ATATGTGTGTGTATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0133	1	75	0.0133	36	c.174 others(53): Show c.1749-558_1749-557insCACACACACACATATATATATATATACA CACACATA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	12/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63313870	A A	ATATGTGT others(29): Show ATATGTGTGTGTATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	211	0.0047	36	c.174 others(53): Show c.1749-560_1749-559insCACACACACATATATATATATATATACA CACACATA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	12/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63313870	A A	ATATGTGT others(29): Show ATATGTGTGTGTGTATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03669.hp2 HG01496.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0036 a0001c0001t0002g0017 a0001c0001t0002g0036	2	212	0.0094	36	c.174 others(53): Show c.1749-560_1749-559insCACACACACATATATATATATATACACA CACACATA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	12/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63313870	A A	ATATGTGT others(29): Show ATATGTGTGTGTGTATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	211	0.0047	36	c.174 others(53): Show c.1749-560_1749-559insCACACACACACATATATATATATACACA CACACATA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	12/17			chr2	TogoVar

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