Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
VPS35_chr16_46651132_46694178	46691958	A A	ACACACAC others(11): Show ACACACACACTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG03139.hp2 HG01109.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0132 a0001c0001t0001g0016 a0001c0001t0001g0132	2	9	0.2222	18	c.-28 others(29): Show c.-2826_-2825insAGAGAGAGAGTGTGTGTG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding		2781		chr16	TogoVar
VPS35_chr16_46651132_46694178	46691958	A A	ACACACAC others(11): Show ACACACACTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG03831.hp2 NA18944.hp2 HG01993.hp1 HG03831.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0060 a0001c0001t0001g0091 a0001c0001t0006g0067 a0001c0001t0001g0060 a0001c0001t0001g0091 a0001c0001t0006g0067	3	10	0.3000	18	c.-28 others(29): Show c.-2826_-2825insAGAGAGAGAGAGTGTGTG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding		2781		chr16	TogoVar
VPS35_chr16_46651132_46694178	46691958	A A	ACACACTC others(11): Show ACACACTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 NA19043.hp2 HG03942.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0121 a0001c0001t0001g0108 a0001c0001t0001g0121	2	9	0.2222	18	c.-28 others(29): Show c.-2826_-2825insAGAGAGAGAGAGAGTGTG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding		2781		chr16	TogoVar
VPS35_chr16_46651132_46694178	46691958	A A	ACACTCTC others(11): Show ACACTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0023 a0001c0001t0007g0023	1	8	0.1250	18	c.-28 others(29): Show c.-2826_-2825insAGAGAGAGAGAGAGAGTG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding		2781		chr16	TogoVar
VPS36_chr13_52407606_52455634	52436218	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01891.hp2 HG02257.hp1 others(3): Show HG01074.hp2 HG01891.hp2 HG02257.hp1 HG02895.hp1 HG02897.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 a0001c0001t0001 a0001c0001t0006 a0001c0001t0015	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0006g0143 others(3): Show a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0006g0143 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0015g0142	6	127	0.0472	18	c.351 others(31): Show c.351+54_351+71dupGTGTGTGTGTGTGTGTGT	VPS36	ENSG00000136100.14	transcript	ENST00000378060.9	protein_coding	4/13			chr13	TogoVar
VPS36_chr13_52407606_52455634	52451379	A A	AACTCCCC others(11): Show AACTCCCCCACGCCACTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 NA18522.hp1 NA20905.hp2 HG06807.hp2 NA18522.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0028 a0001c0001t0009 a0001c0001t0028	a0001c0001t0009g0030 a0001c0001t0028g0261 a0001c0001t0009g0030 a0001c0001t0028g0261	3	336	0.0089	18	c.-78 others(27): Show c.-786_-785insGGAGTGGCGTGGGGGAGT	VPS36	ENSG00000136100.14	transcript	ENST00000378060.9	protein_coding		746		chr13	TogoVar
VPS37A_chr8_17241958_17303024	17256290	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0330 a0001c0001t0013g0330	1	79	0.0127	18	c.125 others(35): Show c.125+8932_125+8949dupTTTTTTTTTTTTTTTTTT	VPS37A	ENSG00000155975.10	transcript	ENST00000324849.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS41_chr7_38717974_38914191	38723723	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03491.hp1 HG03540.hp2 HG03710.hp2 HG03491.hp1 HG03540.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0079 a0001c0001t0024g0203 a0001c0001t0024g0235 a0001c0001t0024g0079 a0001c0001t0024g0203 a0001c0001t0024g0235	3	74	0.0405	18	c.25 others(29): Show c.2505_*2522dupTTTTTTTTTTTTTTTTTT	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding	29/29	2522		chr7	TogoVar
VPS41_chr7_38717974_38914191	38911721	C C	CTTTTTTT others(11): Show CTTTTTTTCTTGCACATGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 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 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0013 a0002c0004 a0003c0015 a0004c0010 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(78): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0055 a0001c0001t0058 a0001c0001t0060 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0017 a0001c0002t0020 a0001c0002t0022 a0001c0002t0032 a0001c0002t0033 a0001c0002t0034 a0001c0002t0036 a0001c0002t0037 a0001c0002t0050 a0001c0002t0052 a0001c0002t0053 a0001c0003t0001 a0001c0003t0003 a0001c0003t0009 a0001c0003t0010 a0001c0003t0011 a0001c0003t0016 a0001c0003t0021 a0001c0003t0028 a0001c0003t0031 a0001c0003t0056 a0001c0003t0057 a0001c0003t0059 a0001c0005t0031 a0001c0005t0034 a0001c0005t0054 a0001c0006t0009 a0001c0007t0004 a0001c0007t0035 a0001c0008t0047 a0001c0009t0010 a0001c0011t0025 a0001c0013t0046 a0002c0004t0001 a0002c0004t0009 a0003c0015t0001 a0004c0010t0016 a0005c0012t0051	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(257): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0002g0215 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0091 a0001c0001t0003g0135 a0001c0001t0003g0167 a0001c0001t0003g0218 a0001c0001t0003g0223 a0001c0001t0003g0226 a0001c0001t0003g0234 a0001c0001t0003g0242 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0265 a0001c0001t0004g0176 a0001c0001t0004g0207 a0001c0001t0005g0034 a0001c0001t0005g0036 a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0243 a0001c0001t0006g0063 a0001c0001t0006g0112 a0001c0001t0006g0214 a0001c0001t0006g0222 a0001c0001t0006g0233 a0001c0001t0006g0241 a0001c0001t0006g0248 a0001c0001t0006g0249 a0001c0001t0006g0260 a0001c0001t0006g0268 a0001c0001t0007g0055 a0001c0001t0007g0065 a0001c0001t0007g0078 a0001c0001t0007g0204 a0001c0001t0007g0205 a0001c0001t0007g0216 a0001c0001t0007g0229 a0001c0001t0007g0230 a0001c0001t0008g0246 a0001c0001t0009g0015 a0001c0001t0009g0021 a0001c0001t0009g0179 a0001c0001t0012g0210 a0001c0001t0012g0239 a0001c0001t0012g0258 a0001c0001t0012g0259 a0001c0001t0012g0264 a0001c0001t0013g0080 a0001c0001t0013g0081 a0001c0001t0013g0212 a0001c0001t0013g0231 a0001c0001t0013g0232 a0001c0001t0014g0051 a0001c0001t0014g0123 a0001c0001t0014g0134 a0001c0001t0014g0236 a0001c0001t0014g0238 a0001c0001t0016g0061 a0001c0001t0016g0077 a0001c0001t0018g0099 a0001c0001t0018g0200 a0001c0001t0018g0227 a0001c0001t0018g0237 a0001c0001t0019g0011 a0001c0001t0019g0024 a0001c0001t0019g0026 a0001c0001t0019g0042 a0001c0001t0023g0086 a0001c0001t0023g0208 a0001c0001t0024g0079 a0001c0001t0024g0203 a0001c0001t0024g0235 a0001c0001t0025g0228 a0001c0001t0025g0253 a0001c0001t0026g0198 a0001c0001t0026g0245 a0001c0001t0026g0267 a0001c0001t0027g0028 a0001c0001t0027g0030 a0001c0001t0027g0037 a0001c0001t0028g0070 a0001c0001t0028g0197 a0001c0001t0029g0209 a0001c0001t0029g0240 a0001c0001t0030g0152 a0001c0001t0030g0206 a0001c0001t0038g0213 a0001c0001t0039g0221 a0001c0001t0040g0202 a0001c0001t0041g0247 a0001c0001t0042g0056 a0001c0001t0043g0199 a0001c0001t0044g0060 a0001c0001t0045g0266 a0001c0001t0048g0010 a0001c0001t0049g0033 a0001c0001t0055g0087 a0001c0001t0058g0269 a0001c0001t0060g0271 a0001c0002t0001g0159 a0001c0002t0002g0054 a0001c0002t0002g0101 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0107 a0001c0002t0002g0110 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0122 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0131 a0001c0002t0002g0133 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0160 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0166 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0004g0102 a0001c0002t0004g0106 a0001c0002t0004g0108 a0001c0002t0004g0118 a0001c0002t0004g0126 a0001c0002t0004g0127 a0001c0002t0004g0130 a0001c0002t0004g0132 a0001c0002t0004g0148 a0001c0002t0004g0149 a0001c0002t0004g0150 a0001c0002t0004g0151 a0001c0002t0004g0164 a0001c0002t0004g0165 a0001c0002t0004g0174 a0001c0002t0004g0183 a0001c0002t0004g0201 a0001c0002t0005g0129 a0001c0002t0007g0109 a0001c0002t0008g0004 a0001c0002t0008g0169 a0001c0002t0008g0170 a0001c0002t0008g0171 a0001c0002t0008g0172 a0001c0002t0008g0175 a0001c0002t0008g0211 a0001c0002t0010g0117 a0001c0002t0010g0128 a0001c0002t0010g0136 a0001c0002t0010g0147 a0001c0002t0010g0244 a0001c0002t0017g0113 a0001c0002t0017g0142 a0001c0002t0017g0146 a0001c0002t0017g0153 a0001c0002t0020g0120 a0001c0002t0020g0121 a0001c0002t0020g0154 a0001c0002t0022g0032 a0001c0002t0022g0035 a0001c0002t0022g0043 a0001c0002t0022g0044 a0001c0002t0032g0003 a0001c0002t0033g0168 a0001c0002t0033g0173 a0001c0002t0034g0161 a0001c0002t0036g0184 a0001c0002t0037g0177 a0001c0002t0050g0103 a0001c0002t0052g0111 a0001c0002t0053g0182 a0001c0003t0001g0069 a0001c0003t0001g0119 a0001c0003t0003g0071 a0001c0003t0009g0067 a0001c0003t0010g0096 a0001c0003t0011g0088 a0001c0003t0011g0089 a0001c0003t0011g0090 a0001c0003t0011g0093 a0001c0003t0011g0094 a0001c0003t0016g0074 a0001c0003t0016g0082 a0001c0003t0021g0073 a0001c0003t0021g0095 a0001c0003t0021g0097 a0001c0003t0021g0100 a0001c0003t0028g0072 a0001c0003t0031g0257 a0001c0003t0056g0075 a0001c0003t0057g0114 a0001c0003t0059g0270 a0001c0005t0031g0098 a0001c0005t0034g0196 a0001c0005t0054g0195 a0001c0006t0009g0006 a0001c0007t0004g0085 a0001c0007t0035g0084 a0001c0008t0047g0185 a0001c0009t0010g0178 a0001c0011t0025g0092 a0001c0013t0046g0083 a0002c0004t0001g0005 a0002c0004t0001g0219 a0002c0004t0001g0224 a0002c0004t0001g0261 a0002c0004t0001g0262 a0002c0004t0001g0263 a0002c0004t0009g0220 a0003c0015t0001g0068 a0004c0010t0016g0076 a0005c0012t0051g0217	267	275	0.9709	18	c.-25 others(29): Show c.-2548_-2547insTCATGTGCAAGAAAAAAA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2531		chr7	TogoVar
VPS45_chr1_150062776_150150329	150076063	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0005 a0003c0003t0001g0005	1	157	0.0064	18	c.290 others(33): Show c.290-166_290-149dupTATATATATATATATATA	VPS45	ENSG00000136631.16	transcript	ENST00000644510.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS45_chr1_150062776_150150329	150128984	G G	GCCCACCT others(11): Show GCCCACCTCAGACTCCCAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01071.hp1 others(70): Show HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01433.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0003c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0019 others(68): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0167 a0001c0004t0001g0169 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0016 a0002c0002t0001g0170 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0004g0017 a0003c0003t0001g0005	73	174	0.4195	18	c.162 others(39): Show c.1626-15725_1626-15724insCCCACCTCAGACTCCCAA	VPS45	ENSG00000136631.16	transcript	ENST00000644510.2	protein_coding	14/14			chr1	TogoVar
VPS45_chr1_150062776_150150329	150140386	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0170 a0002c0002t0001g0170	1	48	0.0208	18	c.162 others(37): Show c.1626-4298_1626-4281dupGTGTGTGTGTGTGTGTGT	VPS45	ENSG00000136631.16	transcript	ENST00000644510.2	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS4A_chr16_69306350_69331939	69310070	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	34	0.0294	18	c.-14 others(29): Show c.-1442_-1441insTTTTTTTTTTTTTTTTTT	VPS4A	ENSG00000132612.16	transcript	ENST00000254950.13	protein_coding		1279		chr16	TogoVar
VPS4B_chr18_63384190_63427476	63387071	T T	TTCACACA others(11): Show TTCACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0034 a0001c0001t0007g0034	1	379	0.0026	18	c.39 others(29): Show c.3903_*3904insGTGTGTGTGTGTGTGTGA	VPS4B	ENSG00000119541.10	transcript	ENST00000238497.10	protein_coding		2118		chr18	TogoVar
VPS4B_chr18_63384190_63427476	63387112	A A	ACACACAC others(11): Show ACACACACACACACACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	260	0.0038	18	c.38 others(29): Show c.3862_*3863insGGTGTGTGTGTGTGTGTG	VPS4B	ENSG00000119541.10	transcript	ENST00000238497.10	protein_coding		2077		chr18	TogoVar
VPS50_chr7_93227366_93366123	93364410	T T	TCACACAC others(11): Show TCACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG02602.hp1 HG06807.hp2 others(1): Show HG01074.hp2 HG02602.hp1 HG06807.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0010 a0001c0003t0002 a0001c0001t0002 a0001c0001t0010 a0001c0003t0002	a0001c0001t0002g0102 a0001c0001t0010g0004 a0001c0003t0002g0155 a0001c0001t0002g0102 a0001c0001t0010g0004 a0001c0003t0002g0155	4	172	0.0233	18	c.59 others(29): Show c.5974_*5975insCACACACACACACACACA	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding		3288		chr7	TogoVar
VPS50_chr7_93227366_93366123	93364437	C C	CACACACA others(11): Show CACACACACACACACACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01934.hp2 HG01891.hp1 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0248 a0001c0001t0001g0059 a0001c0001t0001g0248	2	294	0.0068	18	c.60 others(29): Show c.6001_*6002insACACACACACACACACAG	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding		3315		chr7	TogoVar
VPS52_chr6_33245278_33276876	33263395	A A	ACACACAC others(11): Show ACACACACACACACACACT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp2 HG00642.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	2	324	0.0062	18	c.179 others(33): Show c.1794+88_1794+89insAGTGTGTGTGTGTGTGTG	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19			chr6	TogoVar
VPS52_chr6_33245278_33276876	33263414	C C	CACACACA others(11): Show CACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(45): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01256.hp1 HG01496.hp2 HG01516.hp2 HG02015.hp2 HG02071.hp1 HG02109.hp2 HG02129.hp2 HG02148.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp1 HG02572.hp2 HG02622.hp1 HG02698.hp1 HG02809.hp1 HG02886.hp2 HG03209.hp1 HG03239.hp2 HG03540.hp1 NA18522.hp1 NA18946.hp2 NA18949.hp1 NA18955.hp1 NA18970.hp2 NA18975.hp2 NA18983.hp2 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA19005.hp2 NA19009.hp1 NA19060.hp1 NA19064.hp1 NA19079.hp2 NA19080.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0002t0004 a0001c0007t0001 a0001c0002t0001 a0001c0002t0004 a0001c0007t0001	a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0014 others(21): Show a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0014 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0004g0030 a0001c0002t0004g0122 a0001c0007t0001g0073	48	175	0.2743	18	c.179 others(33): Show c.1794+69_1794+70insCTGTGTGTGTGTGTGTGT	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19			chr6	TogoVar
VPS52_chr6_33245278_33276876	33263414	C C	CACACACA others(11): Show CACACACACACACACAGAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02145.hp1 HG02257.hp2 others(7): Show HG01433.hp2 HG02145.hp1 HG02257.hp2 HG02486.hp1 HG02630.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03579.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0077 a0001c0002t0001g0101 others(5): Show a0001c0002t0001g0017 a0001c0002t0001g0077 a0001c0002t0001g0101 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0224	10	137	0.0730	18	c.179 others(33): Show c.1794+69_1794+70insCTCTGTGTGTGTGTGTGT	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19			chr6	TogoVar
VPS52_chr6_33245278_33276876	33263414	C C	CACACACA others(11): Show CACACACACACACAGAGAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	128	0.0078	18	c.179 others(33): Show c.1794+69_1794+70insCTCTCTGTGTGTGTGTGT	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19			chr6	TogoVar
VPS53_chr17_503668_719839	571487	T T	TTCTCCCT others(11): Show TTCTCCCTCTCCCTCTCCC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02602.hp1 NA18747.hp1 others(7): Show HG02135.hp2 HG02602.hp1 NA18747.hp1 NA18955.hp2 NA18960.hp2 NA18994.hp2 NA19000.hp2 NA19010.hp2 NA19087.hp1 NA19091.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0021 a0001c0005t0044 others(6): Show a0001c0005t0010 a0001c0005t0021 a0001c0005t0044 a0001c0005t0046 a0001c0005t0047 a0001c0005t0048 a0001c0005t0049 a0001c0005t0050 a0001c0005t0077	a0001c0005t0010g0007 a0001c0005t0010g0008 a0001c0005t0021g0006 others(7): Show a0001c0005t0010g0007 a0001c0005t0010g0008 a0001c0005t0021g0006 a0001c0005t0044g0044 a0001c0005t0046g0096 a0001c0005t0047g0009 a0001c0005t0048g0005 a0001c0005t0049g0010 a0001c0005t0050g0011 a0001c0005t0077g0092	10	227	0.0441	18	c.131 others(37): Show c.1314-8760_1314-8743dupGGGAGAGGGAGAGGGAGA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	13/21			chr17	TogoVar
VPS53_chr17_503668_719839	656700	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0025 a0003c0004t0004g0025	1	4	0.2500	18	c.373 others(33): Show c.373-765_373-748dupCACACACACACACACACA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	5/21			chr17	TogoVar
VPS53_chr17_503668_719839	662799	A A	AAGAAAGA others(11): Show AAGAAAGAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02056.hp1 HG03831.hp1 others(7): Show HG01099.hp1 HG02056.hp1 HG03831.hp1 HG03942.hp1 NA18747.hp2 NA18946.hp1 NA18983.hp1 NA18986.hp1 NA19000.hp1 NA19074.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0003 a0005c0009 a0001c0002 a0002c0003 a0005c0009	a0001c0002t0001 a0002c0003t0008 a0002c0003t0009 others(6): Show a0001c0002t0001 a0002c0003t0008 a0002c0003t0009 a0002c0003t0019 a0002c0003t0030 a0002c0003t0040 a0002c0003t0129 a0002c0003t0132 a0005c0009t0123	a0001c0002t0001g0094 a0002c0003t0008g0217 a0002c0003t0009g0218 others(7): Show a0001c0002t0001g0094 a0002c0003t0008g0217 a0002c0003t0009g0218 a0002c0003t0019g0231 a0002c0003t0030g0169 a0002c0003t0030g0181 a0002c0003t0040g0115 a0002c0003t0129g0216 a0002c0003t0132g0167 a0005c0009t0123g0178	10	204	0.0490	18	c.286 others(33): Show c.286-922_286-905dupCTTTCTTTTTTTCTTTCT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS53_chr17_503668_719839	669592	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02300.hp2 NA19000.hp2 others(1): Show HG01175.hp1 HG02300.hp2 NA19000.hp2 NA19087.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0007 a0001c0005 a0001c0006 a0001c0007	a0001c0005t0044 a0001c0005t0048 a0001c0006t0043 others(1): Show a0001c0005t0044 a0001c0005t0048 a0001c0006t0043 a0001c0007t0012	a0001c0005t0044g0044 a0001c0005t0048g0005 a0001c0006t0043g0001 others(1): Show a0001c0005t0044g0044 a0001c0005t0048g0005 a0001c0006t0043g0001 a0001c0007t0012g0110	4	90	0.0444	18	c.286 others(35): Show c.286-7698_286-7697insTTTTTTTTTTTTTTTTTT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS54_chr2_63887150_64024428	63938059	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02055.hp1 HG02109.hp2 others(2): Show HG01496.hp1 HG02055.hp1 HG02109.hp2 HG02896.hp1 HG03209.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0005 a0001c0001 a0001c0004 a0003c0005	a0001c0001t0001 a0001c0004t0001 a0003c0005t0006 a0001c0001t0001 a0001c0004t0001 a0003c0005t0006	a0001c0001t0001g0043 a0001c0001t0001g0061 a0001c0004t0001g0054 others(2): Show a0001c0001t0001g0043 a0001c0001t0001g0061 a0001c0004t0001g0054 a0001c0004t0001g0055 a0003c0005t0006g0010	5	107	0.0467	18	c.139 others(37): Show c.1399-4064_1399-4047dupACACACACACACACACAC	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	11/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	63967718	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG00738.hp1 others(19): Show HG00099.hp1 HG00544.hp2 HG00738.hp1 HG01074.hp1 HG01168.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG02257.hp1 HG02572.hp1 HG02735.hp2 HG02818.hp2 HG02897.hp2 HG02965.hp1 HG03098.hp1 HG03704.hp2 HG04199.hp2 NA18522.hp1 NA19240.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 others(19): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0002g0148 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0003g0282 a0001c0001t0007g0098 a0001c0001t0007g0159 a0001c0001t0008g0003	22	131	0.1679	18	c.492 others(35): Show c.492+1238_492+1239insTTTTTTTTTTTTTTTTTT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	5/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	64020148	G G	GACACACA others(11): Show GACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01243.hp1 others(17): Show HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01891.hp2 HG02109.hp1 HG02622.hp1 HG02630.hp1 HG02735.hp1 HG02735.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03704.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0003 a0001c0003t0011 a0001c0004t0001 a0002c0006t0001	a0001c0001t0001g0022 a0001c0001t0001g0042 a0001c0001t0001g0056 others(17): Show a0001c0001t0001g0022 a0001c0001t0001g0042 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0172 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0003g0282 a0001c0003t0003g0284 a0001c0003t0003g0286 a0001c0003t0003g0291 a0001c0003t0011g0292 a0001c0004t0001g0046 a0001c0004t0001g0047 a0001c0004t0001g0049 a0001c0004t0001g0190 a0002c0006t0001g0177	20	100	0.2000	18	c.-12 others(29): Show c.-1232_-1231insGTGTGTGTGTGTGTGTGT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding		721		chr2	TogoVar
VPS8_chr3_184807166_185057604	184842186	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02071.hp2 HG03209.hp2 others(4): Show HG01952.hp2 HG02071.hp2 HG03209.hp2 NA18955.hp1 NA18994.hp2 NA19002.hp1 NA19065.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0003 a0002c0002 a0004c0003	a0002c0002t0001 a0002c0002t0009 a0004c0003t0001 a0002c0002t0001 a0002c0002t0009 a0004c0003t0001	a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0203 others(4): Show a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0203 a0002c0002t0001g0226 a0002c0002t0001g0262 a0002c0002t0009g0176 a0004c0003t0001g0030	7	106	0.0660	18	c.536 others(35): Show c.536-1048_536-1031dupAAAAAAAAAAAAAAAAAA	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184894508	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA19064.hp1 HG00099.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0268 a0001c0001t0002g0106 a0001c0001t0002g0268	2	193	0.0104	18	c.178 others(35): Show c.1782-188_1782-171dupTATATATATATATATATA	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	22/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184950216	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0168 a0002c0002t0001g0168	1	13	0.0769	18	c.303 others(37): Show c.3036-7147_3036-7130dupTTTTTTTTTTTTTTTTTT	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	36/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184962761	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0018 a0004c0003t0001g0019 a0004c0003t0001g0018 a0004c0003t0001g0019	2	268	0.0075	18	c.318 others(37): Show c.3184-1702_3184-1701insGTGTGTGTGTGTTTGTGT	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	37/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	185012978	T T	TATAGTTA others(11): Show TATAGTTATTTCCTACAGG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG06807.hp2 HG03041.hp2 HG06807.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0034 a0004c0003t0003g0042 a0004c0003t0003g0034 a0004c0003t0003g0042	2	270	0.0074	18	c.400 others(39): Show c.4003-11357_4003-11356insTAGTTATTTCCTACAGGA	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	45/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS9D1_chr16_89702134_89725898	89702154	G G	GGGGGCGG others(11): Show GGGGGCGGGCCTCCCCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00621.hp1 others(31): Show HG00438.hp1 HG00597.hp2 HG00621.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02135.hp1 HG02165.hp1 HG02523.hp1 HG03491.hp2 HG03492.hp2 NA18612.hp2 NA18940.hp1 NA18943.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18982.hp2 NA18984.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA19002.hp2 NA19056.hp2 NA19062.hp2 NA19070.hp1 NA19074.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 a0001c0001t0001 a0001c0002t0002 a0001c0003t0002	a0001c0001t0001g0144 a0001c0002t0002g0156 a0001c0002t0002g0160 others(8): Show a0001c0001t0001g0144 a0001c0002t0002g0156 a0001c0002t0002g0160 a0001c0003t0002g0003 a0001c0003t0002g0034 a0001c0003t0002g0098 a0001c0003t0002g0099 a0001c0003t0002g0100 a0001c0003t0002g0101 a0001c0003t0002g0102 a0001c0003t0002g0203	34	428	0.0794	18	c.57 others(29): Show c.5706_*5707insACAGGGGAGGCCCGCCCC	VPS9D1	ENSG00000075399.14	transcript	ENST00000389386.8	protein_coding		4979		chr16	TogoVar
VRK2_chr2_58041806_58164871	58120184	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01975.hp1 HG01981.hp2 others(12): Show HG00280.hp1 HG01975.hp1 HG01981.hp2 HG02080.hp1 HG02273.hp1 HG02630.hp1 HG02886.hp2 HG03486.hp2 NA18943.hp2 NA18947.hp1 NA18973.hp2 NA19001.hp1 NA19012.hp2 NA19057.hp2 NA19076.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0006c0010t0001 a0001c0001t0001 a0006c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0125 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0287 a0001c0001t0001g0294 a0001c0001t0001g0300 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0326 a0006c0010t0001g0148	15	139	0.1079	18	c.544 others(35): Show c.544-2910_544-2893dupTTTTTTTTTTTTTTTTTT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58137195	T T	TGTATCAT others(11): Show TGTATCATATATATGATAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18906.hp1 HG02922.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0268 a0001c0003t0001g0269 a0001c0003t0001g0268 a0001c0003t0001g0269	2	335	0.0060	18	c.856 others(35): Show c.856+1996_856+1997insGTATCATATATATGATAC	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12			chr2	TogoVar
VRK2_chr2_58041806_58164871	58151731	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18971.hp2 NA19056.hp2 others(1): Show HG03453.hp2 NA18971.hp2 NA19056.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0277 others(1): Show a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0277 a0002c0002t0002g0078	4	29	0.1379	18	c.118 others(37): Show c.1182+5276_1182+5293dupTTTTTTTTTTTTTTTTTT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK3_chr19_49971468_50030372	50019674	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	17	0.0588	18	c.-2+ others(31): Show c.-2+893_-2+910dupAAAAAAAAAAAAAAAAAA	VRK3	ENSG00000105053.11	transcript	ENST00000316763.8	protein_coding	2/14			chr19	TogoVar
VRTN_chr14_74343471_74365008	74344246	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(47): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01167.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01934.hp1 HG01943.hp2 HG02083.hp2 HG02132.hp1 HG02486.hp2 HG02602.hp1 HG02630.hp2 HG03209.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03942.hp2 NA18950.hp1 NA18957.hp2 NA18980.hp2 NA18983.hp2 NA18990.hp2 NA18994.hp2 NA18995.hp2 NA19004.hp1 NA19011.hp1 NA19067.hp2 NA19070.hp1 NA20905.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0021 a0002c0007 a0006c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0002t0001 a0001c0003t0001 a0001c0021t0001 a0002c0007t0001 a0006c0015t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 others(22): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0042 a0001c0001t0002g0066 a0001c0001t0002g0080 a0001c0001t0003g0022 a0001c0001t0011g0099 a0001c0002t0001g0033 a0001c0003t0001g0006 a0001c0003t0001g0051 a0001c0003t0001g0094 a0001c0021t0001g0016 a0002c0007t0001g0050 a0006c0015t0001g0090	50	53	0.9434	18	c.-44 others(29): Show c.-4408_-4407insAAAAAAAAAAAAAAAAAA	VRTN	ENSG00000133980.5	transcript	ENST00000256362.5	protein_coding		4224		chr14	TogoVar
VRTN_chr14_74343471_74365008	74344733	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0001 a0006c0015t0001	a0006c0015t0001g0090 a0006c0015t0001g0090	1	71	0.0141	18	c.-39 others(29): Show c.-3921_-3920insAAAAAAAAAAAAAAAAAA	VRTN	ENSG00000133980.5	transcript	ENST00000256362.5	protein_coding		3737		chr14	TogoVar
VSIG10L2_chr11_125941044_125961319	125958565	A A	ATATGTGT others(11): Show ATATGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01496.hp2 HG01891.hp2 others(2): Show HG00738.hp1 HG01496.hp2 HG01891.hp2 HG02622.hp1 NA19240.hp1	a0005 a0005	a0005c0011 a0005c0015 a0005c0011 a0005c0015	a0005c0011t0001 a0005c0015t0001 a0005c0011t0001 a0005c0015t0001	a0005c0011t0001g0007 a0005c0015t0001g0007 a0005c0011t0001g0007 a0005c0015t0001g0007	5	98	0.0510	18	c.26 others(29): Show c.2651_*2652insTATGTGTGTGTGTGTGTG	VSIG10L2	ENSG00000283703.3	transcript	ENST00000686984.1	protein_coding		2247		chr11	TogoVar
VSIG10_chr12_118058593_118109011	118098228	T T	TGCCTCTC others(11): Show TGCCTCTCCCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18968.hp1 NA19056.hp1 others(1): Show HG02886.hp1 NA18968.hp1 NA19056.hp1 NA19240.hp1	a0002 a0014 a0020 a0002 a0014 a0020	a0002c0001 a0014c0027 a0020c0026 a0002c0001 a0014c0027 a0020c0026	a0002c0001t0023 a0014c0027t0047 a0020c0026t0046 a0002c0001t0023 a0014c0027t0047 a0020c0026t0046	a0002c0001t0023g0166 a0002c0001t0023g0168 a0014c0027t0047g0013 others(1): Show a0002c0001t0023g0166 a0002c0001t0023g0168 a0014c0027t0047g0013 a0020c0026t0046g0014	4	89	0.0449	18	c.80- others(33): Show c.80-2432_80-2415dupGGAGAGAGAGGGAGAGGC	VSIG10	ENSG00000176834.14	transcript	ENST00000359236.10	protein_coding	1/8			chr12	TogoVar
VSIG1_chrX_108040065_108084184	108047907	C C	CATATATA others(11): Show CATATATATATATACACAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01891.hp2 HG02809.hp2 others(1): Show HG00423.hp2 HG01891.hp2 HG02809.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0074 a0001c0001t0001g0075 others(1): Show a0001c0001t0001g0044 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0138	4	76	0.0526	18	c.49+ others(33): Show c.49+2739_49+2740insTACACATATATATATATA	VSIG1	ENSG00000101842.14	transcript	ENST00000217957.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
VSIG4_chrX_66016738_66045080	66021192	G G	GCACACAC others(11): Show GCACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	174	0.0057	18	c.10 others(29): Show c.1070_*1071insTGTGTGTGTGTGTGTGTG	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding		545		chrX	TogoVar
VSIG8_chr1_159849316_159867657	159849587	C C	CTGCTTGC others(11): Show CTGCTTGCCTGGGGTGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG02630.hp2 HG02717.hp1 others(7): Show HG01099.hp2 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG03041.hp1 HG03195.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0002c0002t0005	a0001c0001t0001g0005 a0001c0001t0005g0068 a0001c0001t0005g0073 others(2): Show a0001c0001t0001g0005 a0001c0001t0005g0068 a0001c0001t0005g0073 a0002c0002t0001g0011 a0002c0002t0005g0026	10	456	0.0219	18	c.51 others(29): Show c.5165_*5166insTGTCACCCCAGGCAAGCA	VSIG8	ENSG00000243284.1	transcript	ENST00000368100.1	protein_coding		4728		chr1	TogoVar
VSIR_chr10_71742556_71778520	71759818	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0089 a0001c0003t0089	a0001c0003t0089g0218 a0001c0003t0089g0218	1	380	0.0026	18	c.568 others(35): Show c.568+1049_568+1050insGTGTGTGTGTGTGTGTGT	VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6			chr10	TogoVar
VSIR_chr10_71742556_71778520	71759830	C C	CACACACA others(11): Show CACACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0291 a0003c0005t0001g0291	1	459	0.0022	18	c.568 others(35): Show c.568+1037_568+1038insATATGTGTGTGTGTGTGT	VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6			chr10	TogoVar
VSIR_chr10_71742556_71778520	71759846	C C	CACACACA others(11): Show CACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0136 a0002c0006t0136	a0002c0006t0136g0326 a0002c0006t0136g0326	1	249	0.0040	18	c.568 others(35): Show c.568+1021_568+1022insATGTGTGTGTGTGTGTGT	VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6			chr10	TogoVar
VSIR_chr10_71742556_71778520	71759846	C C	CACACACA others(11): Show CACACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02257.hp1 HG01081.hp2 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0052 a0001c0003t0025g0052	2	250	0.0080	18	c.568 others(35): Show c.568+1021_568+1022insATATGTGTGTGTGTGTGT	VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6			chr10	TogoVar
VSIR_chr10_71742556_71778520	71760010	T T	TACACACA others(11): Show TACACACACACATATATAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18522.hp2 HG03453.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0057 a0001c0004t0057	a0001c0004t0057g0061 a0001c0004t0057g0061	2	437	0.0046	18	c.568 others(33): Show c.568+840_568+857dupGTATATATGTGTGTGTGT	VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6			chr10	TogoVar

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