Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
VPS13D_chr1_12225030_12517047	12396029	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02165.hp1 HG03130.hp1 HG01891.hp2 HG02165.hp1 HG03130.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0002 a0003c0007 a0007c0029 a0001c0002 a0003c0007 a0007c0029	a0001c0002t0002 a0003c0007t0007 a0007c0029t0011 a0001c0002t0002 a0003c0007t0007 a0007c0029t0011	a0001c0002t0002g0045 a0003c0007t0007g0154 a0007c0029t0011g0144 a0001c0002t0002g0045 a0003c0007t0007g0154 a0007c0029t0011g0144	3	76	0.0395	32	c.116 others(53): Show c.11635-4152_11635-4151insTATATATATATATATATATATATA TATATATT		VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	60/69						chr1	TogoVar
VPS13D_chr1_12225030_12517047	12396029	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATGTATT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0013 a0001c0021t0013	a0001c0021t0013g0046 a0001c0021t0013g0046	1	74	0.0135	32	c.116 others(53): Show c.11635-4152_11635-4151insTATATATATATATATATATATATA TATGTATT		VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	60/69						chr1	TogoVar
VPS26A_chr10_69119178_69179412	69137862	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02723.hp1 HG02572.hp2 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0026 a0001c0002t0008 a0001c0002t0026	a0001c0002t0008g0027 a0001c0002t0026g0030 a0001c0002t0008g0027 a0001c0002t0026g0030	2	314	0.0064	32	c.153 others(49): Show c.153+4835_153+4836insATATATATATATATATATATATATATAT ATAT		VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS35L_chr16_19550703_19706163	19666911	T T	TCTTTCTT others(25): Show TCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03453.hp2 HG02559.hp2 HG03453.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0005 a0001c0008t0002 a0001c0008t0005	a0001c0008t0002g0173 a0001c0008t0005g0175 a0001c0008t0002g0173 a0001c0008t0005g0175	2	184	0.0109	32	c.222 others(51): Show c.2222-2242_2222-2241insCCTTTCTTCCTTTCTTCCTTTCTTCC TTTCTT		VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19666927	T T	TCTTTCTT others(25): Show TCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0067 a0001c0003t0001g0067	1	52	0.0192	32	c.222 others(51): Show c.2222-2209_2222-2178dupCCTTTCTTCCTTTCTTCCTTTCTTCC TTTCTT		VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19666961	T T	TTTCTTCC others(25): Show TTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01891.hp2 HG02647.hp2 others(3): Show HG00140.hp1 HG01891.hp2 HG02647.hp2 HG02723.hp1 HG03209.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0012t0002 a0001c0001t0001 a0001c0001t0002 a0001c0012t0002	a0001c0001t0001g0202 a0001c0001t0001g0268 a0001c0001t0001g0274 others(3): Show a0001c0001t0001g0202 a0001c0001t0001g0268 a0001c0001t0001g0274 a0001c0001t0002g0055 a0001c0001t0002g0190 a0001c0012t0002g0283	6	265	0.0226	32	c.222 others(51): Show c.2222-2178_2222-2177insCCTTTCTTCCCTTCTTCCTTTCTTCC TTTCTT		VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35_chr16_46651132_46694178	46691958	A A	ACACACAC others(25): Show ACACACACACTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG03540.hp2 NA18906.hp2 HG02040.hp2 HG03540.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0008 a0001c0001t0001g0140 a0001c0001t0003g0040 a0001c0001t0001g0008 a0001c0001t0001g0140 a0001c0001t0003g0040	3	10	0.3000	32	c.-28 others(43): Show c.-2826_-2825insAGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTG		VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding					2781		chr16	TogoVar
VPS4B_chr18_63384190_63427476	63398204	C C	CACACACA others(25): Show CACACACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0181 a0001c0004t0004g0181	1	316	0.0032	32	c.873 others(47): Show c.873-952_873-951insATATATATATATATATATATATATATGTGT GT		VPS4B	ENSG00000119541.10	transcript	ENST00000238497.10	protein_coding	8/10						chr18	TogoVar
VPS4B_chr18_63384190_63427476	63398204	C C	CACACATA others(25): Show CACACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0180 a0001c0004t0004g0180	1	316	0.0032	32	c.873 others(47): Show c.873-952_873-951insATATATATATATATATATATATATATATGT GT		VPS4B	ENSG00000119541.10	transcript	ENST00000238497.10	protein_coding	8/10						chr18	TogoVar
VPS53_chr17_503668_719839	543783	A A	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0055 a0001c0011t0055	a0001c0011t0055g0091 a0001c0011t0055g0091	1	76	0.0132	32	c.186 others(51): Show c.1867-6639_1867-6608dupCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTC		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21						chr17	TogoVar
VPS53_chr17_503668_719839	543813	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18978.hp1 NA18990.hp1 others(3): Show NA18612.hp2 NA18978.hp1 NA18990.hp1 NA19011.hp2 NA19064.hp1 NA19091.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0062 a0003c0004t0064 others(1): Show a0003c0004t0004 a0003c0004t0062 a0003c0004t0064 a0003c0004t0066	a0003c0004t0004g0021 a0003c0004t0004g0025 a0003c0004t0004g0026 others(3): Show a0003c0004t0004g0021 a0003c0004t0004g0025 a0003c0004t0004g0026 a0003c0004t0062g0030 a0003c0004t0064g0031 a0003c0004t0066g0034	6	202	0.0297	32	c.186 others(51): Show c.1867-6638_1867-6637insCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCT		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21						chr17	TogoVar
VPS53_chr17_503668_719839	543813	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0040 a0003c0004t0004g0040	1	197	0.0051	32	c.186 others(51): Show c.1867-6638_1867-6637insCCCTCCCTCCCTCCCTTCCTTCCTTC CTTCCT		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21						chr17	TogoVar
VPS53_chr17_503668_719839	556926	C C	CAGGAGGG others(25): Show CAGGAGGGCCTCTCTGCTGAAGGGGGATGGCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00423.hp1 others(47): Show HG00099.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00621.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01167.hp1 HG01928.hp1 HG01981.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02293.hp1 HG02300.hp1 HG02738.hp2 HG03491.hp2 HG03942.hp1 HG04199.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18946.hp1 NA18955.hp1 NA18957.hp2 NA18960.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18990.hp1 NA19000.hp1 NA19010.hp1 NA19011.hp2 NA19060.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19080.hp2 NA19084.hp2 NA19090.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0010 a0003c0004 a0004c0008 a0005c0009	a0001c0001t0015 a0001c0002t0001 a0001c0002t0027 others(35): Show a0001c0001t0015 a0001c0002t0001 a0001c0002t0027 a0001c0002t0068 a0001c0002t0074 a0001c0002t0106 a0002c0003t0008 a0002c0003t0009 a0002c0003t0018 a0002c0003t0019 a0002c0003t0030 a0002c0003t0039 a0002c0003t0040 a0002c0003t0082 a0002c0003t0086 a0002c0003t0087 a0002c0003t0088 a0002c0003t0089 a0002c0003t0090 a0002c0003t0096 a0002c0003t0101 a0002c0003t0124 a0002c0003t0132 a0002c0003t0133 a0002c0003t0136 a0002c0003t0137 a0002c0003t0138 a0002c0003t0140 a0002c0003t0142 a0002c0010t0020 a0003c0004t0003 a0003c0004t0004 a0003c0004t0028 a0003c0004t0078 a0004c0008t0039 a0005c0009t0123 a0005c0009t0131 a0005c0009t0139	a0001c0001t0015g0131 a0001c0002t0001g0094 a0001c0002t0027g0070 others(47): Show a0001c0001t0015g0131 a0001c0002t0001g0094 a0001c0002t0027g0070 a0001c0002t0068g0093 a0001c0002t0074g0095 a0001c0002t0106g0222 a0002c0003t0008g0180 a0002c0003t0008g0182 a0002c0003t0008g0183 a0002c0003t0008g0217 a0002c0003t0009g0185 a0002c0003t0009g0186 a0002c0003t0009g0188 a0002c0003t0009g0218 a0002c0003t0018g0179 a0002c0003t0019g0172 a0002c0003t0019g0214 a0002c0003t0019g0231 a0002c0003t0030g0169 a0002c0003t0030g0181 a0002c0003t0039g0176 a0002c0003t0040g0115 a0002c0003t0040g0168 a0002c0003t0082g0184 a0002c0003t0086g0175 a0002c0003t0087g0171 a0002c0003t0088g0209 a0002c0003t0089g0190 a0002c0003t0090g0173 a0002c0003t0096g0192 a0002c0003t0101g0208 a0002c0003t0124g0193 a0002c0003t0132g0167 a0002c0003t0133g0194 a0002c0003t0136g0215 a0002c0003t0137g0187 a0002c0003t0138g0170 a0002c0003t0140g0174 a0002c0003t0142g0191 a0002c0010t0020g0156 a0003c0004t0003g0036 a0003c0004t0004g0021 a0003c0004t0004g0025 a0003c0004t0004g0026 a0003c0004t0028g0038 a0003c0004t0078g0035 a0004c0008t0039g0207 a0005c0009t0123g0178 a0005c0009t0131g0189 a0005c0009t0139g0177	50	213	0.2347	32	c.170 others(51): Show c.1705-3465_1705-3464insTGGCCATCCCCCTTCAGCAGAGAGGC CCTCCT		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	15/21						chr17	TogoVar
VPS53_chr17_503668_719839	556926	C C	CAGGAGGG others(25): Show CAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCA	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18967.hp1 HG02145.hp2 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0053 a0001c0002t0014 a0001c0002t0053	a0001c0002t0014g0077 a0001c0002t0053g0048 a0001c0002t0014g0077 a0001c0002t0053g0048	2	165	0.0121	32	c.170 others(51): Show c.1705-3465_1705-3464insTGGCCACCCCCCTTCAGCAGAGAGGC CCTCCT		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	15/21						chr17	TogoVar
VPS53_chr17_503668_719839	579152	C C	CCTCCCTC others(25): Show CCTCCCTCAGAACCTAATGCGTTCCCAGAGAAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18747.hp2 NA18984.hp2 others(1): Show HG01074.hp2 NA18747.hp2 NA18984.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0001 a0001c0002t0068 a0001c0002t0074 others(1): Show a0001c0002t0001 a0001c0002t0068 a0001c0002t0074 a0001c0011t0055	a0001c0002t0001g0094 a0001c0002t0068g0093 a0001c0002t0074g0095 others(1): Show a0001c0002t0001g0094 a0001c0002t0068g0093 a0001c0002t0074g0095 a0001c0011t0055g0091	4	230	0.0174	32	c.131 others(51): Show c.1313+7086_1313+7117dupATTCTCTGGGAACGCATTAGGTTCTG AGGGAG		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	13/21						chr17	TogoVar
VPS53_chr17_503668_719839	579185	C C	ATCCCTCA others(25): Show ATCCCTCAGAACCTAATGCGTTCCCAGAGAACC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG01099.hp2 others(8): Show HG00099.hp2 HG00280.hp2 HG01099.hp2 HG01168.hp2 HG01175.hp1 HG01515.hp2 HG01981.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp1 NA18948.hp1	a0001 a0001	a0001c0006 a0001c0016 a0001c0006 a0001c0016	a0001c0006t0001 a0001c0006t0022 a0001c0006t0025 others(6): Show a0001c0006t0001 a0001c0006t0022 a0001c0006t0025 a0001c0006t0041 a0001c0006t0042 a0001c0006t0043 a0001c0006t0057 a0001c0006t0060 a0001c0016t0056	a0001c0006t0001g0097 a0001c0006t0001g0113 a0001c0006t0022g0100 others(8): Show a0001c0006t0001g0097 a0001c0006t0001g0113 a0001c0006t0022g0100 a0001c0006t0022g0101 a0001c0006t0025g0098 a0001c0006t0041g0003 a0001c0006t0042g0002 a0001c0006t0043g0001 a0001c0006t0057g0102 a0001c0006t0060g0103 a0001c0016t0056g0099	11	230	0.0478	32	c.131 others(51): Show c.1313+7085_1313+7086insGTTCTCTGGGAACGCATTAGGTTCTG AGGGAT		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	13/21						chr17	TogoVar
VPS53_chr17_503668_719839	662751	G G	GACAAAGA others(25): Show GACAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19064.hp2 NA18955.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0074 a0001c0005t0077 a0001c0002t0074 a0001c0005t0077	a0001c0002t0074g0095 a0001c0005t0077g0092 a0001c0002t0074g0095 a0001c0005t0077g0092	2	126	0.0159	32	c.286 others(47): Show c.286-857_286-856insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT GT		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21						chr17	TogoVar
VPS53_chr17_503668_719839	662751	G G	GAGAAAGA others(25): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA19068.hp1 HG03831.hp2 NA19068.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0028 a0003c0004t0063 a0003c0004t0028 a0003c0004t0063	a0003c0004t0028g0038 a0003c0004t0063g0039 a0003c0004t0028g0038 a0003c0004t0063g0039	2	126	0.0159	32	c.286 others(47): Show c.286-857_286-856insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21						chr17	TogoVar
VPS53_chr17_503668_719839	662795	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAGAAAGAAAGAAAAAA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19080.hp2 NA18957.hp2 NA19080.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0018 a0002c0003t0009 a0002c0003t0018	a0002c0003t0009g0188 a0002c0003t0018g0179 a0002c0003t0009g0188 a0002c0003t0018g0179	2	222	0.0090	32	c.286 others(47): Show c.286-901_286-900insTTTTTTCTTTCTTTCTCTTTCTTTCTTTCT TT		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21						chr17	TogoVar
VPS53_chr17_503668_719839	662834	A A	AAAGAGAA others(25): Show AAAGAGAAAGAGAAAGAAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18960.hp2 NA19010.hp2 NA18747.hp1 NA18960.hp2 NA19010.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0021 a0001c0005t0046 a0001c0005t0010 a0001c0005t0021 a0001c0005t0046	a0001c0005t0010g0008 a0001c0005t0021g0006 a0001c0005t0046g0096 a0001c0005t0010g0008 a0001c0005t0021g0006 a0001c0005t0046g0096	3	96	0.0313	32	c.286 others(47): Show c.286-940_286-939insCCTTCCTTCCTTCCTTTCTTTCTCTTTCTC TT		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21						chr17	TogoVar
VPS53_chr17_503668_719839	662834	A A	AAAGAGAA others(25): Show AAAGAGAAAGAGAAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG01070.hp2 others(7): Show HG00323.hp2 HG00438.hp2 HG01070.hp2 HG01071.hp1 HG02083.hp1 HG02293.hp1 HG02300.hp1 HG02738.hp2 NA18987.hp1 NA19010.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0039 a0002c0003t0088 others(5): Show a0002c0003t0008 a0002c0003t0039 a0002c0003t0088 a0002c0003t0096 a0002c0003t0101 a0002c0003t0124 a0002c0003t0133 a0002c0003t0136	a0002c0003t0008g0180 a0002c0003t0008g0182 a0002c0003t0008g0183 others(7): Show a0002c0003t0008g0180 a0002c0003t0008g0182 a0002c0003t0008g0183 a0002c0003t0039g0176 a0002c0003t0088g0209 a0002c0003t0096g0192 a0002c0003t0101g0208 a0002c0003t0124g0193 a0002c0003t0133g0194 a0002c0003t0136g0215	10	103	0.0971	32	c.286 others(47): Show c.286-940_286-939insCCTTCCTTCCTTCCTTCCTTTCTCTTTCTC TT		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21						chr17	TogoVar
VPS54_chr2_63887150_64024428	64020148	G G	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	81	0.0123	32	c.-12 others(43): Show c.-1232_-1231insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT		VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding					721		chr2	TogoVar
VPS8_chr3_184807166_185057604	184842186	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0218 a0002c0002t0001g0218	1	100	0.0100	32	c.536 others(49): Show c.536-1031_536-1030insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	7/47					INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184940270	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0034 a0004c0003t0003g0034	1	63	0.0159	32	c.303 others(47): Show c.3035+46_3035+47insATATATATATATATATATATATATATATAT AT		VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	36/47					INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184984194	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAACTCACCAAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01934.hp1 HG01952.hp2 others(10): Show HG01433.hp2 HG01934.hp1 HG01952.hp2 HG01981.hp1 HG02056.hp2 HG02622.hp2 HG04115.hp1 NA18964.hp1 NA18972.hp1 NA19005.hp2 NA19012.hp1 NA19082.hp2 NA19085.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0002 a0002c0002t0001 a0002c0002t0005 others(2): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0005 a0002c0002t0009 a0004c0006t0003	a0001c0001t0002g0079 a0001c0001t0002g0198 a0002c0002t0001g0089 others(10): Show a0001c0001t0002g0079 a0001c0001t0002g0198 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0178 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0232 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0005g0028 a0002c0002t0009g0176 a0004c0006t0003g0050	13	14	0.9286	32	c.358 others(51): Show c.3585+1100_3585+1101insAAAAAAAAAAAAAAAAAAAAAAACTC ACCAAG		VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	42/47						chr3	TogoVar
VRK2_chr2_58041806_58164871	58075866	A A	AGAGTACT others(25): Show AGAGTACTTATAGGCTTATAGAGAACATTGGGG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00735.hp1 HG01243.hp2 others(22): Show HG00423.hp2 HG00735.hp1 HG01243.hp2 HG01261.hp2 HG01496.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02132.hp1 HG02523.hp2 HG02809.hp1 HG02965.hp1 HG03490.hp1 HG03688.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 NA18747.hp2 NA18971.hp2 NA18973.hp1 NA18978.hp2 NA18983.hp2 NA18989.hp1 NA19056.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0052 others(22): Show a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0289 a0001c0001t0001g0290	25	338	0.0740	32	c.137 others(49): Show c.137-8223_137-8222insGAGTACTTATAGGCTTATAGAGAACATT GGGG		VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	2/12						chr2	TogoVar
VRTN_chr14_74343471_74365008	74344246	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00738.hp2 HG01516.hp2 others(13): Show HG00609.hp2 HG00738.hp2 HG01516.hp2 HG02071.hp2 HG02165.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp1 NA18948.hp1 NA18997.hp1 NA19010.hp2 NA19011.hp2 NA19057.hp1 NA19057.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0002g0001 a0001c0001t0004g0001 a0001c0001t0008g0002 a0001c0004t0001g0018	16	19	0.8421	32	c.-44 others(43): Show c.-4408_-4407insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		VRTN	ENSG00000133980.5	transcript	ENST00000256362.5	protein_coding					4224		chr14	TogoVar
VSIR_chr10_71742556_71778520	71759846	C C	CACACACA others(25): Show CACACACACACACATATACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03516.hp1 HG03139.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0039 a0001c0004t0039 a0001c0001t0039 a0001c0004t0039	a0001c0001t0039g0244 a0001c0004t0039g0224 a0001c0001t0039g0244 a0001c0004t0039g0224	2	250	0.0080	32	c.568 others(49): Show c.568+1021_568+1022insATGTGTGTGTGTGTGTATATGTGTGTGT GTGT		VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6						chr10	TogoVar
VSX2_chr14_74234449_74267738	74244907	T T	TGTGTGAA others(25): Show TGTGTGAAAGAGAGAGAGAAAGAGAGAGAGAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02698.hp2 HG01516.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0197 a0001c0002t0001g0198	2	419	0.0048	32	c.456 others(47): Show c.456-253_456-252insAAAGAGAGAGAGAAAGAGAGAGAGAAAGTG TG		VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr14	TogoVar
VSX2_chr14_74234449_74267738	74244959	T T	TGTGTGAG others(25): Show TGTGTGAGAGAGAGAGAGAAAGAGAGAGAGAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02818.hp1 HG02886.hp2 others(5): Show HG01109.hp2 HG02818.hp1 HG02886.hp2 HG03139.hp1 HG03579.hp2 HG03710.hp2 NA18747.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013	a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0110 others(5): Show a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0110 a0001c0001t0007g0078 a0001c0001t0011g0077 a0001c0001t0013g0223 a0001c0001t0013g0224 a0001c0001t0013g0225	8	271	0.0295	32	c.456 others(47): Show c.456-201_456-200insAGAGAGAGAGAGAAAGAGAGAGAGAAAGTG TG		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(25): Show TGTGTGTGAGAGAGAGAGAAAGAGAGAGAGAAA	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19085.hp2 NA19072.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0162 a0001c0001t0001g0035 a0001c0001t0001g0162	2	265	0.0075	32	c.456 others(47): Show c.456-199_456-198insAGAGAGAGAGAAAGAGAGAGAGAAAGTGTG TG		VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr14	TogoVar
VSX2_chr14_74234449_74267738	74244961	T T	TGTGTGAG others(25): Show TGTGTGAGAGAGAGAGAGAAAGAGAGAGAGAAA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	420	0.0024	32	c.456 others(47): Show c.456-199_456-198insAGAGAGAGAGAGAAAGAGAGAGAGAAAGTG TG		VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr14	TogoVar
VSX2_chr14_74234449_74267738	74244963	T T	TGTGTGAG others(25): Show TGTGTGAGAGAGAGAGAGAAAGAGAGAGAGAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18522.hp2 HG02559.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0311 a0001c0001t0001g0312	2	419	0.0048	32	c.456 others(47): Show c.456-197_456-196insAGAGAGAGAGAGAAAGAGAGAGAGAAAGTG TG		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(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19009.hp1 NA18906.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0188 a0001c0001t0003g0181 a0001c0001t0002g0188 a0001c0001t0003g0181	2	127	0.0157	32	c.98- others(45): Show c.98-172_98-171insATATATATATATATATATATATATATATATAT		VTCN1	ENSG00000134258.18	transcript	ENST00000369458.8	protein_coding	2/5						chr1	TogoVar
VTI1A_chr10_112442215_112823744	112618520	T T	TAGAGAGA others(25): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18977.hp1 HG02630.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0020 a0001c0001t0004g0136 a0001c0001t0002g0020 a0001c0001t0004g0136	2	97	0.0206	32	c.428 others(51): Show c.428-49697_428-49696insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA		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(25): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0024 a0001c0001t0014g0024	1	2	0.5000	32	c.428 others(51): Show c.428-49693_428-49692insTATATATAGAGAGAGAGAGAGAGAGA GAGAGA		VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA1_chr1_1430690_1447882	1442855	A A	AATAAACC others(25): Show AATAAACCAAGTCAATTTTCTATAGTGACGGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(268): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0013 a0002c0003 a0002c0012 a0003c0014 a0004c0011 a0005c0009 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0002t0001 a0001c0002t0002 a0001c0002t0031 a0001c0002t0039 a0001c0002t0044 a0001c0004t0005 a0001c0005t0003 a0001c0005t0009 a0001c0005t0032 a0001c0006t0001 a0001c0007t0001 a0001c0008t0012 a0001c0013t0012 a0002c0003t0004 a0002c0003t0016 a0002c0003t0017 a0002c0012t0004 a0003c0014t0002 a0004c0011t0001 a0005c0009t0012 a0006c0010t0021	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(91): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0003g0060 a0001c0001t0004g0020 a0001c0001t0004g0039 a0001c0001t0006g0008 a0001c0001t0006g0017 a0001c0001t0006g0047 a0001c0001t0007g0001 a0001c0001t0009g0008 a0001c0001t0010g0002 a0001c0001t0010g0036 a0001c0001t0011g0026 a0001c0001t0011g0054 a0001c0001t0013g0008 a0001c0001t0014g0051 a0001c0001t0014g0059 a0001c0001t0015g0005 a0001c0001t0018g0001 a0001c0001t0019g0001 a0001c0001t0023g0021 a0001c0001t0024g0001 a0001c0001t0025g0001 a0001c0001t0027g0005 a0001c0001t0028g0001 a0001c0001t0029g0034 a0001c0001t0033g0005 a0001c0001t0034g0003 a0001c0001t0035g0045 a0001c0001t0036g0056 a0001c0001t0037g0020 a0001c0001t0038g0003 a0001c0001t0040g0010 a0001c0001t0041g0014 a0001c0001t0042g0010 a0001c0001t0043g0001 a0001c0002t0001g0006 a0001c0002t0001g0027 a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0018 a0001c0002t0002g0035 a0001c0002t0031g0006 a0001c0002t0039g0002 a0001c0002t0044g0002 a0001c0004t0005g0009 a0001c0004t0005g0012 a0001c0004t0005g0023 a0001c0005t0003g0019 a0001c0005t0003g0046 a0001c0005t0009g0005 a0001c0005t0032g0008 a0001c0006t0001g0001 a0001c0007t0001g0001 a0001c0008t0012g0033 a0001c0013t0012g0044 a0002c0003t0004g0005 a0002c0003t0004g0011 a0002c0003t0004g0013 a0002c0003t0004g0018 a0002c0003t0004g0030 a0002c0003t0004g0031 a0002c0003t0004g0032 a0002c0003t0016g0015 a0002c0003t0017g0016 a0002c0012t0004g0048 a0003c0014t0002g0004 a0004c0011t0001g0001 a0005c0009t0012g0042 a0006c0010t0021g0010	271	277	0.9783	32	c.29 others(43): Show c.2998_*2999insCGGTGATAAACCAAGTCAATTTTCTATAGTGA		VWA1	ENSG00000179403.12	transcript	ENST00000476993.2	protein_coding	3/3				2999	INFO_REALIGN_3_PRIME	chr1	TogoVar
VWA1_chr1_1430690_1447882	1442855	A A	AATAAACG others(25): Show AATAAACGAAGTCAATTTTCTATAGTGACGGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0010 a0001c0001t0020g0010	1	7	0.1429	32	c.30 others(43): Show c.3074_*3075insGAAGTCAATTTTCTATAGTGACGGTGATAAAC		VWA1	ENSG00000179403.12	transcript	ENST00000476993.2	protein_coding	3/3				3075	INFO_REALIGN_3_PRIME	chr1	TogoVar
VWA1_chr1_1430690_1447882	1442884	G G	GGTGATAA others(25): Show GGTGATAAACCAAGTCAATTTTCTATAGTGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 NA18906.hp1 HG01243.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0026 a0001c0001t0022 a0001c0001t0026	a0001c0001t0022g0058 a0001c0001t0026g0022 a0001c0001t0022g0058 a0001c0001t0026g0022	2	278	0.0072	32	c.30 others(43): Show c.3097_*3098insGTGATAAACCAAGTCAATTTTCTATAGTGACA		VWA1	ENSG00000179403.12	transcript	ENST00000476993.2	protein_coding					3		chr1	TogoVar
VWA2_chr10_114234254_114299489	114289434	A A	AGCTTACG others(25): Show AGCTTACGCCGACCTGCGGTACCACCAGGACGT	frameshift_variant frameshift_variant	HIGH	NA18977.hp2 NA18977.hp2	a0020 a0020	a0020c0031 a0020c0031	a0020c0031t0001 a0020c0031t0001	a0020c0031t0001g0146 a0020c0031t0001g0146	1	244	0.0041	32	c.207 others(41): Show c.2071_2102dupTACGCCGACCTGCGGTACCACCAGGACGTGCT	p.Ile others(5): Show p.Ile702fs	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	12/14	2429/5846	2103/2268	701/755		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA8_chr13_41561835_41966109	41573610	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp1 HG03098.hp1 HG02630.hp2 HG02922.hp1 HG03098.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0005c0005t0002 a0001c0001t0001 a0001c0001t0002 a0005c0005t0002	a0001c0001t0001g0072 a0001c0001t0002g0169 a0005c0005t0002g0003 a0001c0001t0001g0072 a0001c0001t0002g0169 a0005c0005t0002g0003	3	132	0.0227	32	c.537 others(51): Show c.5370+2129_5370+2130insATATATATATATATATATATATATAT ATATAT		VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	43/44						chr13	TogoVar
VWA8_chr13_41561835_41966109	41784701	T T	TACATATA others(25): Show TACATATACATATACATATACATATACATATAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	235	0.0043	32	c.217 others(49): Show c.2171-801_2171-800insGTATATGTATATGTATATGTATATGTAT ATGT		VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	18/44						chr13	TogoVar
VWC2L_chr2_214406054_214583976	214433159	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03579.hp2 HG01891.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0137 a0001c0001t0003g0077 a0001c0001t0003g0137	2	79	0.0253	32	c.391 others(49): Show c.391-3446_391-3445insATATATATATATATATATATATATATAT ATAT		VWC2L	ENSG00000174453.10	transcript	ENST00000312504.10	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
VWC2L_chr2_214406054_214583976	214561809	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	201	0.0050	32	c.521 others(51): Show c.521-13862_521-13861insTATATATATATATATATATATATATA TATACA		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(25): Show AAAAAATATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp1 HG01168.hp2 others(3): Show HG00741.hp1 HG01081.hp1 HG01168.hp2 HG01261.hp2 HG01496.hp1 NA18951.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0045	a0001c0001t0002g0142 a0001c0001t0002g0146 a0002c0002t0001g0031 others(3): Show a0001c0001t0002g0142 a0001c0001t0002g0146 a0002c0002t0001g0031 a0002c0002t0003g0006 a0002c0002t0003g0023 a0002c0002t0045g0068	6	93	0.0645	32	c.827 others(51): Show c.827-34552_827-34551insAAAATATACATATATATATATATATA TATATA		VWC2	ENSG00000188730.5	transcript	ENST00000340652.5	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
VWF_chr12_5943877_6129670	5964238	A A	ACATACAT others(25): Show ACATACATACATGCATACATACATACATACATG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp2 HG02896.hp1 others(3): Show HG02280.hp2 HG02622.hp2 HG02896.hp1 HG02897.hp1 HG03195.hp2 HG03225.hp2	a0013 a0019 a0064 others(2): Show a0013 a0019 a0064 a0079 a0081	a0013c0017 a0019c0079 a0064c0048 others(2): Show a0013c0017 a0019c0079 a0064c0048 a0079c0125 a0081c0157	a0013c0017t0001 a0019c0079t0001 a0064c0048t0001 others(2): Show a0013c0017t0001 a0019c0079t0001 a0064c0048t0001 a0079c0125t0001 a0081c0157t0001	a0013c0017t0001g0129 a0013c0017t0001g0130 a0019c0079t0001g0009 others(3): Show a0013c0017t0001g0129 a0013c0017t0001g0130 a0019c0079t0001g0009 a0064c0048t0001g0010 a0079c0125t0001g0135 a0081c0157t0001g0007	6	283	0.0212	32	c.788 others(51): Show c.7887+3247_7887+3248insCATGTATGTATGTATGTATGCATGTA TGTATG		VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	47/51						chr12	TogoVar
VWF_chr12_5943877_6129670	5983521	T T	TTAGATAG others(25): Show TTAGATAGATAGATAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0008 a0008	a0008c0181 a0008c0181	a0008c0181t0001 a0008c0181t0001	a0008c0181t0001g0271 a0008c0181t0001g0271	1	210	0.0048	32	c.697 others(49): Show c.6977-268_6977-267insTCTATCTATCTATCTATCTATCTATCTA TCTA		VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	40/51						chr12	TogoVar
VWF_chr12_5943877_6129670	6059613	G G	GAAGGGGC others(25): Show GAAGGGGCTAGCAAGCTCTCTGAGGTCTTTTAA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0056 a0002c0001t0001g0056	1	286	0.0035	32	c.153 others(51): Show c.1534-1601_1534-1570dupTTAAAAGACCTCAGAGAGCTTGCTAG CCCCTT		VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	13/51						chr12	TogoVar
VWF_chr12_5943877_6129670	6092606	T T	TGAGAGTG others(25): Show TGAGAGTGAGAGTGAGAGTGAGAGTGAGAGTGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0064 a0064	a0064c0048 a0064c0048	a0064c0048t0001 a0064c0048t0001	a0064c0048t0001g0010 a0064c0048t0001g0010	1	281	0.0036	32	c.657 others(49): Show c.657+2853_657+2854insTCACTCTCACTCTCACTCTCACTCTCAC TCTC		VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51						chr12	TogoVar
VWF_chr12_5943877_6129670	6092614	T T	TGAGTGAG others(25): Show TGAGTGAGTGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0021 a0021	a0021c0137 a0021c0137	a0021c0137t0001 a0021c0137t0001	a0021c0137t0001g0243 a0021c0137t0001g0243	1	166	0.0060	32	c.657 others(49): Show c.657+2845_657+2846insTCTCTCTCTCTCTCTCTCTCTCTCACTC ACTC		VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51						chr12	TogoVar

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