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
VKORC1L1_chr7_65868074_65964558	65895516	T T	TATATACA others(3): Show TATATACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	180	0.0056	10	c.194 others(29): Show c.194+21952_194+21953insTATACACACA	VKORC1L1	ENSG00000196715.7	transcript	ENST00000360768.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
VKORC1L1_chr7_65868074_65964558	65909690	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01993.hp1 HG02109.hp2 others(10): Show HG01952.hp2 HG01993.hp1 HG02109.hp2 HG02273.hp2 HG02647.hp1 HG02809.hp2 HG03239.hp2 HG03669.hp2 HG03942.hp1 HG04228.hp2 NA18944.hp1 NA19043.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0243 others(10): Show a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0243 a0001c0001t0001g0261 a0001c0001t0003g0030 a0001c0001t0003g0040 a0001c0001t0003g0051 a0001c0001t0003g0061 a0001c0001t0003g0068 a0001c0001t0003g0071 a0001c0001t0007g0197 a0001c0001t0007g0220 a0001c0001t0007g0221	13	96	0.1354	10	c.194 others(29): Show c.194+36164_194+36173dupTGTGTGTGTG	VKORC1L1	ENSG00000196715.7	transcript	ENST00000360768.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
VKORC1L1_chr7_65868074_65964558	65909737	T T	TGTGTGTG others(3): Show TGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA19010.hp2 NA19011.hp1 HG02523.hp2 NA19010.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0005 a0001c0001t0014	a0001c0001t0005g0310 a0001c0001t0005g0339 a0001c0001t0014g0304 a0001c0001t0005g0310 a0001c0001t0005g0339 a0001c0001t0014g0304	3	320	0.0094	10	c.194 others(29): Show c.194+36173_194+36174insTGTGTGTGAG	VKORC1L1	ENSG00000196715.7	transcript	ENST00000360768.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
VKORC1L1_chr7_65868074_65964558	65929682	G G	GTGTATAT others(3): Show GTGTATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18998.hp1 HG01934.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0293 a0001c0001t0005g0295 a0001c0001t0005g0293 a0001c0001t0005g0295	2	7	0.2857	10	c.195 others(29): Show c.195-18988_195-18987insGTATATATAT	VKORC1L1	ENSG00000196715.7	transcript	ENST00000360768.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
VLDLR_chr9_2616787_2665056	2633049	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18975.hp2 HG02129.hp1 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0020 a0001c0001t0007 a0002c0002t0020	a0001c0001t0007g0122 a0002c0002t0020g0226 a0001c0001t0007g0122 a0002c0002t0020g0226	2	110	0.0182	10	c.83- others(25): Show c.83-2403_83-2402insTGTGTGTGTG	VLDLR	ENSG00000147852.17	transcript	ENST00000382100.8	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
VLDLR_chr9_2616787_2665056	2663345	G G	GTGGCCAC others(3): Show GTGGCCACTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0026 a0001c0001t0040g0026	1	390	0.0026	10	c.94 others(21): Show c.9477_*9478insTGGCCACTTT	VLDLR	ENSG00000147852.17	transcript	ENST00000382100.8	protein_coding		3290		chr9	TogoVar
VMA21_chrX_151392206_151414364	151397111	G G	GCGCGCCG others(3): Show GCGCGCCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02723.hp2 HG02109.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0030 a0001c0001t0011g0029 a0001c0001t0002g0030 a0001c0001t0011g0029	2	283	0.0071	10	c.-19 others(19): Show c.-198_-197insCGCGCCGCGC	VMA21	ENSG00000160131.14	transcript	ENST00000330374.7	protein_coding		94		chrX	TogoVar
VMAC_chr19_5899872_5915853	5907610	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01256.hp1 HG01258.hp1 others(2): Show HG01243.hp1 HG01256.hp1 HG01258.hp1 HG02683.hp1 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0016 a0001c0001t0001 a0002c0002t0016	a0001c0001t0001g0021 a0002c0002t0016g0078 a0001c0001t0001g0021 a0002c0002t0016g0078	5	59	0.0847	10	c.192 others(27): Show c.192-1197_192-1188dupAAAAAAAAAA	VMAC	ENSG00000187650.4	transcript	ENST00000339485.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
VMP1_chr17_59702654_59847255	59721715	C C	CAAACAAA others(3): Show CAAACAAAACA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02027.hp2 HG02486.hp1 others(7): Show HG01168.hp2 HG02027.hp2 HG02486.hp1 HG02615.hp2 HG02647.hp2 HG02970.hp2 HG03225.hp1 HG03225.hp2 NA18992.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0081 a0001c0001t0001g0153 a0001c0001t0002g0071 others(7): Show a0001c0001t0001g0081 a0001c0001t0001g0153 a0001c0001t0002g0071 a0001c0001t0002g0098 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0257 a0001c0001t0003g0264	10	123	0.0813	10	c.-26 others(27): Show c.-26-9679_-26-9670dupAACAAAACAA	VMP1	ENSG00000062716.13	transcript	ENST00000262291.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
VMP1_chr17_59702654_59847255	59772950	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0111 a0001c0001t0003g0111	1	17	0.0588	10	c.583 others(25): Show c.583-783_583-774dupTTTTTTTTTT	VMP1	ENSG00000062716.13	transcript	ENST00000262291.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
VMP1_chr17_59702654_59847255	59777812	T T	TCAAAACA others(3): Show TCAAAACAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00741.hp1 HG01074.hp1 others(13): Show HG00423.hp2 HG00741.hp1 HG01074.hp1 HG02083.hp2 HG02129.hp1 HG03491.hp2 HG03492.hp1 NA18952.hp2 NA18956.hp1 NA18961.hp1 NA18975.hp2 NA18979.hp1 NA18987.hp2 NA18993.hp2 NA19081.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0042 others(13): Show a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0192 a0001c0001t0002g0235 a0001c0001t0007g0274 a0001c0001t0007g0275	16	150	0.1067	10	c.714 others(27): Show c.714+3963_714+3972dupCAAAACAAAA	VMP1	ENSG00000062716.13	transcript	ENST00000262291.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
VMP1_chr17_59702654_59847255	59784142	T T	TGTGTGTG others(3): Show TGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	30	0.0333	10	c.714 others(29): Show c.714+10258_714+10259insTGTGTGTGAG	VMP1	ENSG00000062716.13	transcript	ENST00000262291.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
VMP1_chr17_59702654_59847255	59789835	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	16	0.0625	10	c.714 others(29): Show c.714+15963_714+15972dupTTTTTTTTTT	VMP1	ENSG00000062716.13	transcript	ENST00000262291.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
VMP1_chr17_59702654_59847255	59809484	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0274 a0001c0001t0007g0274	1	27	0.0370	10	c.795 others(25): Show c.795+639_795+648dupTTTTTTTTTT	VMP1	ENSG00000062716.13	transcript	ENST00000262291.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
VMP1_chr17_59702654_59847255	59832573	A A	ATTTGTTT others(3): Show ATTTGTTTTGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp2 HG00738.hp2 others(43): Show HG00642.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01168.hp2 HG01934.hp2 HG01978.hp1 HG02015.hp1 HG02027.hp2 HG02071.hp2 HG02257.hp2 HG02273.hp1 HG02486.hp1 HG02630.hp2 HG02717.hp1 HG02895.hp2 HG02896.hp2 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03579.hp1 HG03831.hp2 HG03834.hp1 NA18943.hp1 NA18949.hp2 NA18950.hp2 NA18959.hp2 NA18962.hp1 NA18966.hp1 NA18967.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp2 NA19001.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19062.hp2 NA19080.hp2 NA19086.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009	a0001c0001t0002g0050 a0001c0001t0003g0110 a0001c0001t0003g0111 others(43): Show a0001c0001t0002g0050 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0151 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0264 a0001c0001t0009g0109	46	155	0.2968	10	c.975 others(27): Show c.975-5692_975-5683dupTTTTGTTTTG	VMP1	ENSG00000062716.13	transcript	ENST00000262291.9	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
VN1R1_chr19_57449790_57462140	57457933	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01074.hp1 HG01099.hp2 others(50): Show HG00741.hp2 HG01074.hp1 HG01099.hp2 HG01123.hp1 HG01175.hp1 HG01258.hp2 HG01516.hp2 HG01517.hp1 HG01978.hp1 HG01978.hp2 HG02056.hp2 HG02080.hp2 HG02155.hp1 HG02165.hp1 HG02451.hp2 HG02559.hp1 HG02886.hp1 HG03098.hp2 HG03130.hp2 HG03239.hp2 HG03471.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG04199.hp2 HG06807.hp1 NA18747.hp2 NA18942.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18961.hp1 NA18962.hp2 NA18973.hp1 NA18978.hp1 NA18991.hp1 NA19000.hp1 NA19000.hp2 NA19055.hp1 NA19056.hp2 NA19060.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19078.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0003c0005t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 a0002c0002t0001g0000 a0003c0005t0001g0000	53	135	0.3926	10	c.-14 others(21): Show c.-1448_-1447insACACACACAC	VN1R1	ENSG00000178201.5	transcript	ENST00000321039.5	protein_coding		794		chr19	TogoVar
VNN1_chr6_132675849_132719055	132689270	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03471.hp1 NA19240.hp1 HG02055.hp2 HG03471.hp1 NA19240.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0008 a0005c0008t0010 a0005c0008t0021 a0005c0008t0008 a0005c0008t0010 a0005c0008t0021	a0005c0008t0008g0206 a0005c0008t0010g0207 a0005c0008t0021g0202 a0005c0008t0008g0206 a0005c0008t0010g0207 a0005c0008t0021g0202	3	366	0.0082	10	c.118 others(29): Show c.1188+2943_1188+2952dupGTGTGTGTGT	VNN1	ENSG00000112299.8	transcript	ENST00000367928.5	protein_coding	5/6			chr6	TogoVar
VNN1_chr6_132675849_132719055	132717176	A A	AAAAAAAA others(3): Show AAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	174	0.0057	10	c.-31 others(21): Show c.-3142_-3141insCTTTTTTTTT	VNN1	ENSG00000112299.8	transcript	ENST00000367928.5	protein_coding		3122		chr6	TogoVar
VNN2_chr6_132738870_132762904	132758039	C C	CTTCTTCT others(3): Show CTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG03492.hp1 HG02698.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0001 a0001c0001t0001g0028	2	208	0.0096	10	c.-15 others(19): Show c.-157_-156insAGAAGAAGAA	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding		136		chr6	TogoVar
VOPP1_chr7_55465613_55577502	55516932	A A	ATATATTT others(3): Show ATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03516.hp2 HG02970.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0284 a0001c0003t0005g0285 a0001c0003t0005g0284 a0001c0003t0005g0285	2	184	0.0109	10	c.113 others(27): Show c.113+4139_113+4140insAAAAAATATA	VOPP1	ENSG00000154978.13	transcript	ENST00000285279.10	protein_coding	2/4			chr7	TogoVar
VOPP1_chr7_55465613_55577502	55539899	G G	GCACACAC others(3): Show GCACACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01175.hp2 HG01515.hp2 others(2): Show HG00642.hp1 HG01175.hp2 HG01515.hp2 HG01517.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 others(2): Show a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0002g0111	5	45	0.1111	10	c.55- others(27): Show c.55-18779_55-18770dupTGTGTGTGTG	VOPP1	ENSG00000154978.13	transcript	ENST00000285279.10	protein_coding	1/4			chr7	TogoVar
VOPP1_chr7_55465613_55577502	55568081	C C	CTTTTTTC others(3): Show CTTTTTTCCTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02970.hp1 HG03486.hp2 HG02486.hp2 HG02970.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270	3	24	0.1250	10	c.54+ others(25): Show c.54+4189_54+4190insAAGGAAAAAA	VOPP1	ENSG00000154978.13	transcript	ENST00000285279.10	protein_coding	1/4			chr7	TogoVar
VPREB3_chr22_23747743_23759425	23754752	G G	GCGCGCAC others(3): Show GCGCGCACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	317	0.0032	10	c.-39 others(19): Show c.-390_-389insTGTGTGCGCG	VPREB3	ENSG00000128218.8	transcript	ENST00000248948.4	protein_coding		328		chr22	TogoVar
VPREB3_chr22_23747743_23759425	23754752	G G	GCGCGCGC others(3): Show GCGCGCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	317	0.0032	10	c.-39 others(19): Show c.-390_-389insTGTGCGCGCG	VPREB3	ENSG00000128218.8	transcript	ENST00000248948.4	protein_coding		328		chr22	TogoVar
VPREB3_chr22_23747743_23759425	23754752	G G	GCGTGCAC others(3): Show GCGTGCACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02280.hp1 others(2): Show HG01884.hp1 HG01884.hp2 HG02280.hp1 HG02486.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	5	321	0.0156	10	c.-39 others(19): Show c.-390_-389insTGTGTGCACG	VPREB3	ENSG00000128218.8	transcript	ENST00000248948.4	protein_coding		328		chr22	TogoVar
VPS11_chr11_119062818_119086972	119068996	A A	ACCCCCCC others(3): Show ACCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0060 a0001c0018t0001g0060	1	150	0.0067	10	c.188 others(25): Show c.188-194_188-185dupCCCCCCCCCC	VPS11	ENSG00000160695.16	transcript	ENST00000621676.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
VPS11_chr11_119062818_119086972	119085172	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 NA19072.hp2 HG03710.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0154 a0001c0001t0001g0007 a0001c0001t0001g0154	2	38	0.0526	10	c.35 others(21): Show c.3549_*3550insTTTTTTTTTT	VPS11	ENSG00000160695.16	transcript	ENST00000621676.5	protein_coding		3201		chr11	TogoVar
VPS11_chr11_119062818_119086972	119086678	A A	AAAATATA others(3): Show AAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	218	0.0046	10	c.50 others(21): Show c.5055_*5056insAAATATATAT	VPS11	ENSG00000160695.16	transcript	ENST00000621676.5	protein_coding		4707		chr11	TogoVar
VPS13A_chr9_77172534_77426537	77206327	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	175	0.0057	10	c.385 others(25): Show c.385+249_385+250insATATATATAT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	5/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77207213	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01070.hp2 HG01167.hp1 others(19): Show HG00558.hp2 HG01070.hp2 HG01167.hp1 HG01433.hp2 HG01515.hp2 HG01993.hp1 HG02132.hp2 HG02738.hp2 HG03710.hp1 NA18612.hp2 NA18942.hp2 NA18951.hp1 NA18977.hp1 NA18978.hp2 NA18984.hp1 NA18988.hp2 NA18993.hp2 NA18998.hp2 NA19007.hp2 NA19065.hp1 NA19066.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0020 others(1): Show a0001c0001 a0001c0003 a0001c0020 a0001c0025	a0001c0001t0002 a0001c0001t0006 a0001c0001t0027 others(6): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0027 a0001c0001t0028 a0001c0003t0003 a0001c0003t0004 a0001c0003t0018 a0001c0020t0006 a0001c0025t0029	a0001c0001t0002g0043 a0001c0001t0002g0052 a0001c0001t0002g0074 others(19): Show a0001c0001t0002g0043 a0001c0001t0002g0052 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0107 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0137 a0001c0001t0006g0102 a0001c0001t0027g0039 a0001c0001t0028g0061 a0001c0003t0003g0227 a0001c0003t0004g0228 a0001c0003t0004g0229 a0001c0003t0004g0246 a0001c0003t0004g0338 a0001c0003t0004g0347 a0001c0003t0018g0214 a0001c0020t0006g0098 a0001c0025t0029g0075	22	165	0.1333	10	c.385 others(27): Show c.385+1165_385+1174dupTATATATATA	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	5/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77207213	T T	TTTTATAT others(3): Show TTTTATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0011 a0004c0009t0011	a0004c0009t0011g0147 a0004c0009t0011g0147	1	144	0.0069	10	c.385 others(27): Show c.385+1135_385+1136insTTATATATAT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	5/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77207252	T T	TATATACA others(3): Show TATATACATAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19030.hp2 HG01884.hp2 NA19030.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0022 a0001c0022t0022	a0001c0022t0022g0005 a0001c0022t0022g0007 a0001c0022t0022g0005 a0001c0022t0022g0007	2	211	0.0095	10	c.385 others(27): Show c.385+1174_385+1175insTATACATAAA	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	5/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77306414	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG01168.hp2 others(20): Show HG00140.hp1 HG00609.hp1 HG01168.hp2 HG01192.hp1 HG01515.hp1 HG02004.hp2 HG02074.hp2 HG02165.hp2 HG02523.hp2 HG02698.hp2 HG02717.hp1 HG02922.hp1 HG03225.hp1 HG03486.hp2 HG04204.hp2 NA18906.hp1 NA18982.hp2 NA18989.hp2 NA19001.hp1 NA19074.hp1 NA19080.hp2 NA19084.hp1 NA19086.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0011 a0001c0038 a0007c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0046 a0001c0002t0001 a0001c0002t0015 a0001c0002t0048 a0001c0005t0005 a0001c0006t0012 a0001c0011t0001 a0001c0038t0010 a0007c0015t0005	a0001c0001t0001g0163 a0001c0001t0003g0087 a0001c0001t0003g0267 others(20): Show a0001c0001t0001g0163 a0001c0001t0003g0087 a0001c0001t0003g0267 a0001c0001t0003g0285 a0001c0001t0016g0164 a0001c0001t0046g0008 a0001c0002t0001g0266 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0295 a0001c0002t0001g0303 a0001c0002t0001g0307 a0001c0002t0001g0309 a0001c0002t0001g0313 a0001c0002t0001g0322 a0001c0002t0015g0090 a0001c0002t0048g0302 a0001c0005t0005g0026 a0001c0006t0012g0002 a0001c0006t0012g0029 a0001c0011t0001g0270 a0001c0038t0010g0194 a0007c0015t0005g0021	23	120	0.1917	10	c.396 others(29): Show c.3961-1505_3961-1496dupGTGTGTGTGT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	34/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77341691	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01192.hp2 HG02451.hp1 others(3): Show HG00639.hp2 HG01192.hp2 HG02451.hp1 HG02683.hp1 HG03098.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0007 a0001c0005 a0001c0006 a0001c0007	a0001c0005t0031 a0001c0006t0005 a0001c0006t0012 others(1): Show a0001c0005t0031 a0001c0006t0005 a0001c0006t0012 a0001c0007t0009	a0001c0005t0031g0020 a0001c0006t0005g0013 a0001c0006t0005g0015 others(3): Show a0001c0005t0031g0020 a0001c0006t0005g0013 a0001c0006t0005g0015 a0001c0006t0005g0019 a0001c0006t0012g0027 a0001c0007t0009g0344	6	62	0.0968	10	c.702 others(29): Show c.7026+1161_7026+1170dupTTTTTTTTTT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	50/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77357363	A A	AGATACTA others(3): Show AGATACTAGAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02723.hp1 HG02965.hp1 HG02258.hp1 HG02723.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0249 a0001c0001t0016g0250 a0001c0001t0016g0251 a0001c0001t0016g0249 a0001c0001t0016g0250 a0001c0001t0016g0251	3	346	0.0087	10	c.780 others(27): Show c.7807-327_7807-318dupATACTAGATG	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	55/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77400223	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03225.hp2 HG06807.hp1 HG02895.hp2 HG03225.hp2 HG06807.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0011 a0004c0009t0011	a0004c0009t0011g0147 a0004c0009t0011g0174 a0004c0009t0011g0179 a0004c0009t0011g0147 a0004c0009t0011g0174 a0004c0009t0011g0179	3	126	0.0238	10	c.919 others(29): Show c.9190-3000_9190-2991dupTTTTTTTTTT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	68/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77401329	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0030 a0001c0005t0005g0031 a0001c0005t0005g0030 a0001c0005t0005g0031	2	58	0.0345	10	c.919 others(29): Show c.9190-1871_9190-1862dupGTGTGTGTGT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	68/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77411660	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0040 a0001c0023t0040	a0001c0023t0040g0120 a0001c0023t0040g0120	1	87	0.0115	10	c.947 others(29): Show c.9474+4069_9474+4078dupAAAAAAAAAA	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	71/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13B_chr8_99008274_99882580	99014106	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0132 a0003c0005t0004g0132	1	132	0.0076	10	c.147 others(25): Show c.147+174_147+175insTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	2/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99178967	T T	TGATTAAT others(3): Show TGATTAATAGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0003 a0015 a0003 a0015	a0003c0033 a0015c0032 a0003c0033 a0015c0032	a0003c0033t0006 a0015c0032t0006 a0003c0033t0006 a0015c0032t0006	a0003c0033t0006g0134 a0015c0032t0006g0133 a0003c0033t0006g0134 a0015c0032t0006g0133	2	132	0.0152	10	c.233 others(29): Show c.2333+8805_2333+8814dupGATTAATAGC	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	16/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99270131	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02922.hp1 HG03130.hp2 others(2): Show HG02895.hp1 HG02922.hp1 HG03130.hp2 NA18522.hp1 NA19058.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0021 a0003c0005 a0001c0002 a0001c0021 a0003c0005	a0001c0002t0001 a0001c0021t0001 a0003c0005t0004 others(1): Show a0001c0002t0001 a0001c0021t0001 a0003c0005t0004 a0003c0005t0006	a0001c0002t0001g0009 a0001c0021t0001g0121 a0003c0005t0004g0130 others(2): Show a0001c0002t0001g0009 a0001c0021t0001g0121 a0003c0005t0004g0130 a0003c0005t0004g0132 a0003c0005t0006g0129	5	20	0.2500	10	c.251 others(29): Show c.2516-4050_2516-4041dupTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	17/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99284720	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02895.hp2 HG02897.hp1 HG01243.hp1 HG02895.hp2 HG02897.hp1	a0003 a0010 a0015 a0003 a0010 a0015	a0003c0033 a0010c0025 a0015c0032 a0003c0033 a0010c0025 a0015c0032	a0003c0033t0006 a0010c0025t0010 a0015c0032t0006 a0003c0033t0006 a0010c0025t0010 a0015c0032t0006	a0003c0033t0006g0134 a0010c0025t0010g0108 a0015c0032t0006g0133 a0003c0033t0006g0134 a0010c0025t0010g0108 a0015c0032t0006g0133	3	128	0.0234	10	c.282 others(29): Show c.2824+9474_2824+9483dupGTGTGTGTGT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99303730	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02897.hp2 HG03453.hp1 HG01256.hp1 HG02897.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0016t0004 a0001c0001t0001 a0001c0001t0002 a0001c0016t0004	a0001c0001t0001g0064 a0001c0001t0002g0052 a0001c0016t0004g0089 a0001c0001t0001g0064 a0001c0001t0002g0052 a0001c0016t0004g0089	3	49	0.0612	10	c.282 others(31): Show c.2824+28488_2824+28497dupAAAAAAAAAA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99326452	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02300.hp2 HG02897.hp2 others(3): Show HG02165.hp2 HG02300.hp2 HG02897.hp2 NA18612.hp1 NA18952.hp2 NA19003.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0016 a0002c0018 others(1): Show a0001c0001 a0001c0016 a0002c0018 a0014c0019	a0001c0001t0002 a0001c0016t0004 a0002c0018t0003 others(1): Show a0001c0001t0002 a0001c0016t0004 a0002c0018t0003 a0014c0019t0002	a0001c0001t0002g0044 a0001c0001t0002g0051 a0001c0001t0002g0072 others(3): Show a0001c0001t0002g0044 a0001c0001t0002g0051 a0001c0001t0002g0072 a0001c0016t0004g0089 a0002c0018t0003g0095 a0014c0019t0002g0055	6	39	0.1538	10	c.282 others(31): Show c.2824+51219_2824+51228dupTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99351433	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0005 a0004c0023t0005	a0004c0023t0005g0106 a0004c0023t0005g0106	1	51	0.0196	10	c.282 others(31): Show c.2825-32774_2825-32773insTGTGTGTGTG	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99358002	T T	TCACACAC others(3): Show TCACACACACA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0005 a0003c0007t0005	a0003c0007t0005g0060 a0003c0007t0005g0060	1	51	0.0196	10	c.282 others(31): Show c.2825-26182_2825-26173dupACACACACAC	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99378134	G G	GCCCCCCC others(3): Show GCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03130.hp2 HG02895.hp1 HG03130.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0130 a0003c0005t0004g0132 a0003c0005t0004g0130 a0003c0005t0004g0132	2	19	0.1053	10	c.282 others(29): Show c.2825-6071_2825-6062dupCCCCCCCCCC	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99580984	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0002 a0001c0035t0002	a0001c0035t0002g0104 a0001c0035t0002g0104	1	18	0.0556	10	c.522 others(29): Show c.5220+3389_5220+3398dupCACACACACA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99623994	C C	CATACATA others(3): Show CATACATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00609.hp2 others(10): Show HG00408.hp2 HG00423.hp1 HG00609.hp2 HG00642.hp2 HG00735.hp1 HG02040.hp1 HG02165.hp1 HG02451.hp1 HG02970.hp2 NA18950.hp1 NA18952.hp1 NA18991.hp1 NA19004.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003 a0005c0009 a0008c0012	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0008t0005 a0002c0003t0003 a0005c0009t0004 a0008c0012t0002	a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0002t0001g0013 others(10): Show a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0025 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0002g0011 a0001c0008t0005g0125 a0002c0003t0003g0024 a0002c0003t0003g0036 a0005c0009t0004g0120 a0008c0012t0002g0022	13	60	0.2167	10	c.522 others(31): Show c.5221-17814_5221-17813insCATATATATA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99623994	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0130 a0003c0005t0004g0130	1	48	0.0208	10	c.522 others(31): Show c.5221-17812_5221-17803dupATATATATAT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61		INFO_REALIGN_3_PRIME	chr8	TogoVar

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