Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
VPS13D_chr1_12225030_12517047	12510525	C C	CTGTGTG CTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01361.hp1 others(4): Show HG01243.hp1 HG01243.hp2 HG01361.hp1 HG01928.hp1 HG03492.hp2 HG04115.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0012 a0001c0001 a0001c0008 a0001c0012	a0001c0001t0004 a0001c0001t0010 a0001c0008t0003 others(1): Show a0001c0001t0004 a0001c0001t0010 a0001c0008t0003 a0001c0012t0002	a0001c0001t0004g0148 a0001c0001t0010g0120 a0001c0008t0003g0008 others(4): Show a0001c0001t0004g0148 a0001c0001t0010g0120 a0001c0008t0003g0008 a0001c0008t0003g0011 a0001c0008t0003g0012 a0001c0008t0003g0079 a0001c0012t0002g0074	7	94	0.0745	6	c.15 others(17): Show c.1526_*1531dupTGTGTG	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	70/70	1532	INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS16_chr20_2835745_2871732	2845007	G G	GGTGTGT GGTGTGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01167.hp1 HG01496.hp1 others(17): Show HG00642.hp1 HG01167.hp1 HG01496.hp1 HG01516.hp1 HG01891.hp2 HG02027.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03927.hp1 HG04184.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0002 a0001c0004t0001 a0001c0001t0001 a0001c0003t0002 a0001c0004t0001	a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0049 others(14): Show a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0150 a0001c0001t0001g0175 a0001c0001t0001g0198 a0001c0001t0001g0211 a0001c0001t0001g0249 a0001c0001t0001g0266 a0001c0003t0002g0034 a0001c0004t0001g0032 a0001c0004t0001g0304 a0001c0004t0001g0305	20	136	0.1471	6	c.53+ others(21): Show c.53+4211_53+4216dupGTGTGT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2854960	A A	ATTTTTT ATTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(180): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG01069.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02280.hp1 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19043.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0013	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0011 a0002c0016 a0004c0013 a0005c0010 a0006c0019 a0007c0006 a0008c0020 a0009c0012 a0010c0014 a0013c0009	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0002 a0001c0004t0001 a0001c0011t0001 a0002c0016t0001 a0004c0013t0001 a0005c0010t0001 a0006c0019t0001 a0007c0006t0001 a0008c0020t0001 a0009c0012t0001 a0010c0014t0001 a0013c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0025 others(153): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0298 a0001c0001t0003g0006 a0001c0001t0003g0024 a0001c0001t0003g0028 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0173 a0001c0002t0001g0152 a0001c0003t0002g0114 a0001c0003t0002g0181 a0001c0003t0002g0184 a0001c0004t0001g0032 a0001c0004t0001g0299 a0001c0004t0001g0300 a0001c0004t0001g0301 a0001c0004t0001g0302 a0001c0004t0001g0303 a0001c0004t0001g0304 a0001c0004t0001g0305 a0001c0004t0001g0306 a0001c0011t0001g0276 a0002c0016t0001g0231 a0004c0013t0001g0003 a0005c0010t0001g0122 a0006c0019t0001g0003 a0007c0006t0001g0163 a0008c0020t0001g0232 a0009c0012t0001g0244 a0010c0014t0001g0027 a0013c0009t0001g0201	183	241	0.7593	6	c.54- others(21): Show c.54-4746_54-4741dupTTTTTT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS26A_chr10_69119178_69179412	69151264	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp2 HG02809.hp2 others(3): Show HG02055.hp1 HG02615.hp2 HG02809.hp2 HG03209.hp1 HG03471.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0266 a0001c0003t0007g0268 a0001c0003t0007g0269 others(3): Show a0001c0003t0007g0266 a0001c0003t0007g0268 a0001c0003t0007g0269 a0001c0003t0007g0270 a0001c0003t0007g0271 a0001c0003t0007g0272	6	263	0.0228	6	c.154 others(23): Show c.154-4534_154-4529dupAAAAAA	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS26A_chr10_69119178_69179412	69160127	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03098.hp1 HG03130.hp1 others(2): Show HG02486.hp2 HG03098.hp1 HG03130.hp1 HG03486.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0108 a0001c0001t0002g0119 a0001c0001t0002g0120 others(2): Show a0001c0001t0002g0108 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0141 a0001c0001t0017g0064	5	55	0.0909	6	c.551 others(23): Show c.551+1952_551+1957dupCACACA	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS26A_chr10_69119178_69179412	69173931	T T	TTGTTGC TTGTTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02572.hp2 others(8): Show HG01884.hp1 HG02258.hp1 HG02572.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp2 HG03486.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0026 a0001c0002t0008 a0001c0002t0026	a0001c0002t0008g0026 a0001c0002t0008g0027 a0001c0002t0008g0028 others(8): Show a0001c0002t0008g0026 a0001c0002t0008g0027 a0001c0002t0008g0028 a0001c0002t0008g0029 a0001c0002t0008g0031 a0001c0002t0008g0032 a0001c0002t0008g0033 a0001c0002t0008g0034 a0001c0002t0008g0035 a0001c0002t0008g0036 a0001c0002t0026g0030	11	334	0.0329	6	c.26 others(17): Show c.2664_*2665insTTGCTG	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	9/9	2665	INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS26A_chr10_69119178_69179412	69174629	A A	AAAAAAC AAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01106.hp2 HG02738.hp2 others(8): Show HG00741.hp1 HG01106.hp2 HG02738.hp2 HG03017.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp2 NA18978.hp1 NA18990.hp2 NA19077.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0009	a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0202 others(8): Show a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0239 a0001c0001t0002g0154 a0001c0001t0002g0163 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0263 a0001c0004t0009g0005	11	106	0.1038	6	c.33 others(17): Show c.3360_*3361insAAAAAC	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding		218		chr10	TogoVar
VPS26B_chr11_134219671_134252788	134240794	C C	CGTGTGT CGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG01192.hp1 others(45): Show HG00438.hp2 HG00597.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01496.hp1 HG02015.hp2 HG02056.hp2 HG02074.hp2 HG02129.hp1 HG02165.hp1 HG02300.hp2 HG02523.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03139.hp1 HG03516.hp2 HG03540.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 NA18940.hp2 NA18942.hp1 NA18948.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp2 NA18963.hp2 NA18970.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18985.hp2 NA18988.hp1 NA18989.hp2 NA18994.hp1 NA18995.hp2 NA19054.hp1 NA19057.hp1 NA19074.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19087.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0007 a0001c0001 a0001c0004 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0027 a0001c0004t0001 a0002c0007t0002	a0001c0001t0001g0004 a0001c0001t0001g0045 a0001c0001t0001g0088 others(22): Show a0001c0001t0001g0004 a0001c0001t0001g0045 a0001c0001t0001g0088 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0139 a0001c0001t0002g0029 a0001c0001t0002g0117 a0001c0001t0002g0166 a0001c0001t0003g0004 a0001c0001t0003g0134 a0001c0001t0003g0143 a0001c0001t0003g0150 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0016g0046 a0001c0001t0020g0064 a0001c0001t0021g0105 a0001c0001t0027g0158 a0001c0004t0001g0058 a0002c0007t0002g0161	48	205	0.2341	6	c.545 others(21): Show c.545+668_545+673dupGTGTGT	VPS26B	ENSG00000151502.11	transcript	ENST00000281187.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
VPS26C_chr21_37218422_37272334	37228927	G G	GGAGGCA GGAGGCA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp1 HG02145.hp2 others(7): Show HG01106.hp2 HG01109.hp1 HG02145.hp2 HG02258.hp2 HG02486.hp1 HG02559.hp2 HG02717.hp2 HG02886.hp2 HG03139.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0204 a0001c0001t0001g0205 others(7): Show a0001c0001t0001g0191 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0281 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0304	10	394	0.0254	6	c.508 others(21): Show c.508-560_508-555dupTGCCTC	VPS26C	ENSG00000157538.14	transcript	ENST00000309117.11	protein_coding	5/7			chr21	TogoVar
VPS26C_chr21_37218422_37272334	37255851	A A	ATTTTTT ATTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00733.hp1 HG02080.hp1 others(13): Show HG00423.hp2 HG00733.hp1 HG02080.hp1 HG02622.hp1 HG02622.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG03195.hp2 NA18964.hp1 NA18973.hp1 NA18997.hp2 NA19004.hp2 NA19075.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0003 a0001c0001t0001 a0001c0001t0003 a0002c0002t0003	a0001c0001t0001g0061 a0001c0001t0001g0293 a0001c0001t0003g0007 others(10): Show a0001c0001t0001g0061 a0001c0001t0001g0293 a0001c0001t0003g0007 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0002c0002t0003g0307	16	61	0.2623	6	c.57+ others(23): Show c.57+11381_57+11386dupAAAAAA	VPS26C	ENSG00000157538.14	transcript	ENST00000309117.11	protein_coding	1/7			chr21	TogoVar
VPS33A_chr12_122224564_122271494	122238770	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01516.hp2 HG01517.hp1 others(11): Show HG01109.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG02145.hp2 HG02257.hp2 HG02559.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG06807.hp1 NA18522.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0014 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0016 a0001c0003t0010	a0001c0001t0001g0022 a0001c0001t0001g0088 a0001c0001t0001g0227 others(10): Show a0001c0001t0001g0022 a0001c0001t0001g0088 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0014g0235 a0001c0001t0016g0230 a0001c0003t0010g0280 a0001c0003t0010g0281 a0001c0003t0010g0282	14	124	0.1129	6	c.116 others(21): Show c.1165-52_1165-47dupGTGTGT	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding	9/12			chr12	TogoVar
VPS33A_chr12_122224564_122271494	122248060	C C	CTGTGTG CTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02257.hp2 others(19): Show HG01243.hp1 HG01884.hp1 HG02257.hp2 HG02451.hp1 HG02559.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03098.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp2 HG03831.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0008 a0001c0001 a0001c0005 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0005t0007 a0003c0008t0004	a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 others(17): Show a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0002g0158 a0001c0001t0002g0232 a0001c0001t0004g0005 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0267 a0001c0001t0016g0230 a0001c0005t0007g0245 a0001c0005t0007g0268 a0001c0005t0007g0269 a0001c0005t0007g0297 a0003c0008t0004g0244	22	157	0.1401	6	c.775 others(23): Show c.775+1805_775+1810dupCACACA	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding	6/12			chr12	TogoVar
VPS33A_chr12_122224564_122271494	122267207	C C	CTTTTTT CTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01099.hp2 HG01123.hp2 others(37): Show HG00735.hp2 HG01099.hp2 HG01123.hp2 HG01346.hp1 HG01516.hp2 HG01517.hp1 HG02129.hp2 HG02451.hp1 HG02559.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03195.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03688.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18941.hp1 NA18955.hp2 NA18974.hp1 NA19003.hp1 NA19007.hp2 NA19030.hp2 NA19043.hp2 NA19064.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0003t0005 a0001c0005t0007	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 others(33): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0227 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0002g0289 a0001c0001t0004g0005 a0001c0001t0004g0238 a0001c0001t0004g0240 a0001c0001t0004g0267 a0001c0001t0006g0303 a0001c0001t0006g0304 a0001c0001t0006g0305 a0001c0001t0006g0306 a0001c0001t0006g0308 a0001c0001t0006g0309 a0001c0001t0006g0310 a0001c0003t0005g0264 a0001c0005t0007g0245 a0001c0005t0007g0268	40	44	0.9091	6	c.-80 others(15): Show c.-800_-799insAAAAAA	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding		714		chr12	TogoVar
VPS33B_chr15_90993673_91027594	91009300	C C	CTCTCTT CTCTCTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01123.hp1 HG01175.hp1 others(48): Show HG00735.hp2 HG01123.hp1 HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(4): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0012	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(5): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0002 a0001c0007t0001 a0001c0008t0001 a0001c0008t0007 a0001c0012t0001	a0001c0001t0001g0019 a0001c0001t0001g0044 a0001c0001t0001g0052 others(36): Show a0001c0001t0001g0019 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0004t0001g0005 a0001c0004t0001g0041 a0001c0004t0001g0202 a0001c0004t0001g0203 a0001c0004t0001g0204 a0001c0004t0001g0205 a0001c0004t0001g0206 a0001c0005t0001g0042 a0001c0005t0001g0043 a0001c0005t0001g0214 a0001c0005t0001g0216 a0001c0005t0001g0217 a0001c0005t0001g0218 a0001c0006t0002g0247 a0001c0007t0001g0012 a0001c0007t0001g0057 a0001c0007t0001g0063 a0001c0007t0001g0064 a0001c0008t0001g0215 a0001c0008t0001g0223 a0001c0008t0001g0227 a0001c0008t0007g0219 a0001c0012t0001g0096 a0001c0012t0001g0136	51	250	0.2040	6	c.403 others(21): Show c.403+500_403+501insAAGAGA	VPS33B	ENSG00000184056.15	transcript	ENST00000333371.8	protein_coding	6/22			chr15	TogoVar
VPS33B_chr15_90993673_91027594	91017367	A A	AATATAT AATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01069.hp1 others(4): Show HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01168.hp1 HG02486.hp1 HG02698.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0252 a0002c0002t0002g0253 others(2): Show a0002c0002t0002g0020 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0280	7	134	0.0522	6	c.178 others(21): Show c.178-349_178-344dupATATAT	VPS33B	ENSG00000184056.15	transcript	ENST00000333371.8	protein_coding	2/22			chr15	TogoVar
VPS35L_chr16_19550703_19706163	19570834	C C	CATATAT CATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03239.hp2 HG04204.hp1 HG00733.hp2 HG03239.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0007t0002 a0001c0001t0001 a0001c0002t0001 a0001c0007t0002	a0001c0001t0001g0158 a0001c0002t0001g0258 a0001c0007t0002g0143 a0001c0001t0001g0158 a0001c0002t0001g0258 a0001c0007t0002g0143	3	21	0.1429	6	c.285 others(23): Show c.285+1294_285+1299dupATATAT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19615968	A A	AAATAAT AAATAAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02135.hp1 HG02135.hp2 others(8): Show HG02071.hp2 HG02135.hp1 HG02135.hp2 HG02922.hp1 HG02970.hp2 HG03195.hp2 HG03471.hp2 HG03516.hp2 HG04184.hp1 NA18906.hp1 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0006c0010	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0006c0010t0001	a0001c0001t0001g0129 a0001c0001t0003g0275 a0001c0002t0001g0037 others(8): Show a0001c0001t0001g0129 a0001c0001t0003g0275 a0001c0002t0001g0037 a0001c0002t0002g0010 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0070 a0001c0003t0001g0172 a0006c0010t0001g0075	11	78	0.1410	6	c.102 others(23): Show c.1024-121_1024-116dupAATAAT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	12/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19674172	T T	TTTTTTC TTTTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02135.hp2 HG02559.hp2 others(11): Show HG02109.hp1 HG02135.hp2 HG02559.hp2 HG02615.hp2 HG02698.hp2 HG02818.hp1 HG03453.hp2 HG03486.hp1 HG03669.hp1 HG04184.hp2 NA18522.hp1 NA18975.hp2 NA19007.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0008t0002 a0001c0008t0005	a0001c0001t0001g0115 a0001c0001t0001g0145 a0001c0001t0001g0165 others(11): Show a0001c0001t0001g0115 a0001c0001t0001g0145 a0001c0001t0001g0165 a0001c0001t0001g0204 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0267 a0001c0001t0002g0079 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0008t0002g0173 a0001c0008t0005g0175	14	239	0.0586	6	c.236 others(25): Show c.2361+4885_2361+4890dupCTTTTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	27/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35_chr16_46651132_46694178	46681032	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02818.hp1 HG03471.hp2 HG02723.hp2 HG02818.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0011g0024 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0011g0024	3	29	0.1034	6	c.324 others(21): Show c.324-185_324-180dupGTGTGT	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding	4/16			chr16	TogoVar
VPS36_chr13_52407606_52455634	52436218	A A	AACACAC AACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp2 HG01952.hp1 others(7): Show HG01106.hp1 HG01884.hp2 HG01952.hp1 HG01993.hp2 HG02071.hp2 HG03486.hp1 HG03540.hp2 NA18968.hp2 NA18984.hp1 NA19002.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0007 a0001c0001t0001 a0003c0003t0007	a0001c0001t0001g0005 a0001c0001t0001g0047 a0001c0001t0001g0069 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0047 a0001c0001t0001g0069 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0122 a0003c0003t0007g0200	10	131	0.0763	6	c.351 others(19): Show c.351+66_351+71dupGTGTGT	VPS36	ENSG00000136100.14	transcript	ENST00000378060.9	protein_coding	4/13			chr13	TogoVar
VPS37A_chr8_17241958_17303024	17267467	T T	TTGTGTG TTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp2 HG01943.hp2 others(26): Show HG00544.hp1 HG00673.hp2 HG01943.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02132.hp2 HG02148.hp1 HG02273.hp1 HG03688.hp1 HG03831.hp1 HG04184.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18973.hp1 NA18974.hp1 NA18981.hp1 NA18985.hp2 NA18995.hp1 NA18999.hp1 NA19004.hp1 NA19009.hp2 NA19064.hp1 NA19066.hp2 NA19083.hp2 NA19084.hp2 NA19087.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0028 a0001c0001t0029 others(1): Show a0001c0001t0003 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033	a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0015 others(22): Show a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0015 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0077 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0118 a0001c0001t0028g0009 a0001c0001t0029g0084 a0001c0001t0033g0113	29	36	0.8056	6	c.201 others(21): Show c.201-777_201-772dupGTGTGT	VPS37A	ENSG00000155975.10	transcript	ENST00000324849.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS37A_chr8_17241958_17303024	17267467	T T	TTTTGTG TTTTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00558.hp2 others(67): Show HG00408.hp2 HG00438.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01255.hp2 HG01361.hp1 HG02055.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02602.hp2 HG02622.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18968.hp1 NA18978.hp2 NA18988.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA19001.hp1 NA19030.hp1 NA19062.hp1 NA19063.hp1 NA19074.hp2 NA19079.hp2 NA19085.hp1 NA19086.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 others(13): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 a0001c0001t0034 a0001c0001t0035 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0002t0001 a0001c0002t0015 a0001c0002t0023 a0001c0004t0002 a0001c0005t0004	a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 others(62): Show a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0309 a0001c0001t0002g0311 a0001c0001t0004g0003 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0180 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0256 a0001c0001t0011g0122 a0001c0001t0011g0124 a0001c0001t0011g0125 a0001c0001t0011g0126 a0001c0001t0011g0127 a0001c0001t0011g0128 a0001c0001t0011g0197 a0001c0001t0013g0156 a0001c0001t0034g0196 a0001c0001t0035g0310 a0001c0001t0041g0129 a0001c0001t0042g0200 a0001c0001t0043g0022 a0001c0001t0044g0192 a0001c0001t0047g0130 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0229 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0015g0060 a0001c0002t0023g0290 a0001c0004t0002g0248 a0001c0005t0004g0179 a0001c0005t0004g0181	70	77	0.9091	6	c.201 others(21): Show c.201-790_201-789insTTGTGT	VPS37A	ENSG00000155975.10	transcript	ENST00000324849.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS37A_chr8_17241958_17303024	17277861	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00673.hp1 others(15): Show HG00438.hp1 HG00544.hp2 HG00673.hp1 HG02135.hp1 HG02273.hp2 HG02451.hp2 HG03139.hp1 NA18612.hp1 NA18950.hp1 NA18954.hp2 NA18957.hp1 NA18995.hp2 NA18999.hp2 NA19011.hp2 NA19062.hp1 NA19079.hp2 NA19084.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0013 a0001c0001t0048 others(3): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0048 a0001c0002t0001 a0001c0002t0002 a0001c0002t0015	a0001c0001t0004g0003 a0001c0001t0004g0165 a0001c0001t0004g0166 others(12): Show a0001c0001t0004g0003 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0172 a0001c0001t0013g0156 a0001c0001t0048g0123 a0001c0002t0001g0216 a0001c0002t0001g0220 a0001c0002t0001g0229 a0001c0002t0001g0233 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0244 a0001c0002t0002g0270 a0001c0002t0015g0060	18	130	0.1385	6	c.713 others(23): Show c.713+1430_713+1435dupCACACA	VPS37A	ENSG00000155975.10	transcript	ENST00000324849.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS39_chr15_42153701_42213304	42199981	C C	CAAAACA CAAAACA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03225.hp1 HG03471.hp1 HG02572.hp2 HG03225.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0031 a0001c0002t0005g0032 a0001c0002t0005g0033 a0001c0002t0005g0031 a0001c0002t0005g0032 a0001c0002t0005g0033	3	278	0.0108	6	c.74- others(17): Show c.74-21_74-20insTGTTTT	VPS39	ENSG00000166887.16	transcript	ENST00000318006.10	protein_coding	1/24			chr15	TogoVar
VPS41_chr7_38717974_38914191	38720548	G G	GTATGTA GTATGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03130.hp2 NA18988.hp2 others(1): Show HG02622.hp2 HG03130.hp2 NA18988.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0026 a0001c0001t0030 a0001c0001t0013 a0001c0001t0026 a0001c0001t0030	a0001c0001t0013g0080 a0001c0001t0013g0081 a0001c0001t0026g0245 others(1): Show a0001c0001t0013g0080 a0001c0001t0013g0081 a0001c0001t0026g0245 a0001c0001t0030g0152	4	246	0.0163	6	c.56 others(17): Show c.5697_*5698insTACATA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2425		chr7	TogoVar
VPS41_chr7_38717974_38914191	38756213	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp2 others(65): Show HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00673.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01192.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02074.hp1 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02723.hp1 HG02735.hp1 HG02896.hp2 HG02897.hp2 HG03017.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03710.hp2 HG03831.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18956.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp1 NA18974.hp1 NA18980.hp1 NA18982.hp1 NA19001.hp1 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19060.hp1 NA19072.hp1 NA19074.hp1 NA19083.hp2 NA19090.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0014	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(22): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0030 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0017 a0001c0002t0020 a0001c0002t0022 a0001c0002t0032 a0001c0002t0033 a0001c0002t0052 a0001c0002t0053 a0001c0005t0034 a0001c0005t0054 a0001c0014t0015	a0001c0001t0003g0066 a0001c0001t0003g0167 a0001c0001t0003g0223 others(63): Show a0001c0001t0003g0066 a0001c0001t0003g0167 a0001c0001t0003g0223 a0001c0001t0003g0255 a0001c0001t0004g0207 a0001c0001t0006g0222 a0001c0001t0015g0189 a0001c0001t0015g0190 a0001c0001t0023g0191 a0001c0001t0024g0203 a0001c0001t0026g0198 a0001c0001t0030g0206 a0001c0002t0001g0159 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0122 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0131 a0001c0002t0002g0133 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0143 a0001c0002t0002g0145 a0001c0002t0002g0155 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0160 a0001c0002t0002g0166 a0001c0002t0004g0102 a0001c0002t0004g0118 a0001c0002t0004g0126 a0001c0002t0004g0127 a0001c0002t0004g0130 a0001c0002t0004g0148 a0001c0002t0004g0150 a0001c0002t0004g0165 a0001c0002t0004g0183 a0001c0002t0004g0201 a0001c0002t0005g0129 a0001c0002t0007g0109 a0001c0002t0008g0004 a0001c0002t0008g0169 a0001c0002t0008g0170 a0001c0002t0008g0171 a0001c0002t0008g0175 a0001c0002t0008g0211 a0001c0002t0010g0117 a0001c0002t0010g0128 a0001c0002t0010g0147 a0001c0002t0010g0244 a0001c0002t0017g0113 a0001c0002t0017g0146 a0001c0002t0020g0154 a0001c0002t0022g0032 a0001c0002t0022g0035 a0001c0002t0022g0043 a0001c0002t0022g0044 a0001c0002t0032g0003 a0001c0002t0033g0168 a0001c0002t0033g0173 a0001c0002t0052g0111 a0001c0002t0053g0182 a0001c0005t0034g0196 a0001c0005t0054g0195 a0001c0014t0015g0188	68	139	0.4892	6	c.169 others(23): Show c.1695+619_1695+624dupGTGTGT	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding	19/28			chr7	TogoVar
VPS41_chr7_38717974_38914191	38815924	C C	CTATATA CTATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG02155.hp2 others(5): Show HG00423.hp1 HG00673.hp1 HG02155.hp2 HG03491.hp2 NA18956.hp2 NA18967.hp2 NA19004.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0027 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0027 a0001c0001t0049	a0001c0001t0001g0025 a0001c0001t0005g0036 a0001c0001t0005g0038 others(5): Show a0001c0001t0001g0025 a0001c0001t0005g0036 a0001c0001t0005g0038 a0001c0001t0005g0041 a0001c0001t0005g0050 a0001c0001t0005g0052 a0001c0001t0027g0037 a0001c0001t0049g0033	8	32	0.2500	6	c.450 others(23): Show c.450+1887_450+1892dupTATATA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding	7/28			chr7	TogoVar
VPS45_chr1_150062776_150150329	150088434	A A	AATATAT AATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01071.hp1 others(17): Show HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01433.hp1 HG01975.hp1 HG02572.hp2 HG02809.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp2 NA18974.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 others(17): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0076 a0001c0001t0001g0108 a0001c0001t0001g0139 a0002c0002t0001g0006 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0002g0015 a0003c0003t0001g0005	20	111	0.1802	6	c.110 others(25): Show c.1105-3486_1105-3481dupATATAT	VPS45	ENSG00000136631.16	transcript	ENST00000644510.2	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS45_chr1_150062776_150150329	150117212	A A	AAATAAT AAATAAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp2 HG02723.hp2 others(7): Show HG01891.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(7): Show a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0002g0014 a0002c0002t0002g0015	10	174	0.0575	6	c.162 others(25): Show c.1625+6600_1625+6605dupTAATAA	VPS45	ENSG00000136631.16	transcript	ENST00000644510.2	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS45_chr1_150062776_150150329	150140386	G G	GGTGTGT GGTGTGT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01884.hp2 HG02572.hp1 others(9): Show HG01168.hp2 HG01884.hp2 HG02572.hp1 HG02622.hp2 HG02895.hp1 HG03225.hp2 HG03490.hp2 HG03540.hp1 HG03942.hp2 NA18974.hp1 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0037 a0001c0001t0001g0076 others(9): Show a0001c0001t0001g0024 a0001c0001t0001g0037 a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0159	12	59	0.2034	6	c.162 others(25): Show c.1626-4286_1626-4281dupGTGTGT	VPS45	ENSG00000136631.16	transcript	ENST00000644510.2	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS4A_chr16_69306350_69331939	69310070	G G	GTTTTTT GTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01517.hp1 HG01978.hp1 others(4): Show HG01074.hp1 HG01517.hp1 HG01978.hp1 HG03492.hp1 NA18948.hp1 NA18979.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0036 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0176 a0001c0001t0022g0186	7	40	0.1750	6	c.-14 others(17): Show c.-1442_-1441insTTTTTT	VPS4A	ENSG00000132612.16	transcript	ENST00000254950.13	protein_coding		1279		chr16	TogoVar
VPS4A_chr16_69306350_69331939	69323943	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02602.hp1 HG02630.hp1 others(13): Show HG02451.hp2 HG02602.hp1 HG02630.hp1 HG02818.hp1 HG03471.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03927.hp2 HG04204.hp1 NA18747.hp2 NA18948.hp2 NA18951.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0007 a0001c0002t0006 a0001c0002t0007	a0001c0002t0006g0018 a0001c0002t0006g0028 a0001c0002t0006g0102 others(9): Show a0001c0002t0006g0018 a0001c0002t0006g0028 a0001c0002t0006g0102 a0001c0002t0007g0013 a0001c0002t0007g0062 a0001c0002t0007g0066 a0001c0002t0007g0067 a0001c0002t0007g0068 a0001c0002t0007g0069 a0001c0002t0007g0070 a0001c0002t0007g0162 a0001c0002t0007g0197	16	291	0.0550	6	c.121 others(23): Show c.1213-265_1213-264insAAAAAA	VPS4A	ENSG00000132612.16	transcript	ENST00000254950.13	protein_coding	10/10			chr16	TogoVar
VPS4B_chr18_63384190_63427476	63387072	T T	TCACACA TCACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01256.hp1 others(2): Show HG01070.hp2 HG01071.hp2 HG01256.hp1 NA18978.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0177 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0001g0177 a0001c0001t0002g0003 a0001c0001t0002g0006	5	216	0.0231	6	c.39 others(17): Show c.3902_*3903insTGTGTG	VPS4B	ENSG00000119541.10	transcript	ENST00000238497.10	protein_coding		2117		chr18	TogoVar
VPS4B_chr18_63384190_63427476	63387072	T T	TCTCACA TCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01256.hp2 HG01981.hp1 others(1): Show HG01123.hp1 HG01256.hp2 HG01981.hp1 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0148 a0001c0001t0001g0151 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0158	4	215	0.0186	6	c.39 others(17): Show c.3902_*3903insTGTGAG	VPS4B	ENSG00000119541.10	transcript	ENST00000238497.10	protein_coding		2117		chr18	TogoVar
VPS4B_chr18_63384190_63427476	63387112	A A	ACACACC ACACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG02027.hp1 HG02109.hp2 others(11): Show HG00673.hp1 HG02027.hp1 HG02109.hp2 HG02293.hp2 HG02523.hp2 HG02698.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp1 NA18944.hp2 NA18950.hp2 NA18968.hp1 NA19064.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0055 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0145	14	273	0.0513	6	c.38 others(17): Show c.3862_*3863insGGTGTG	VPS4B	ENSG00000119541.10	transcript	ENST00000238497.10	protein_coding		2077		chr18	TogoVar
VPS50_chr7_93227366_93366123	93228885	G G	GTGTGTA GTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01167.hp1 HG01169.hp2 others(1): Show HG01074.hp2 HG01167.hp1 HG01169.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0004 a0001c0001t0010g0107 a0001c0001t0010g0119 a0001c0001t0010g0004 a0001c0001t0010g0107 a0001c0001t0010g0119	4	277	0.0144	6	c.-35 others(17): Show c.-3583_-3582insTGTGTA	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding		3480		chr7	TogoVar
VPS50_chr7_93227366_93366123	93240217	G G	GCACACA GCACACA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG00733.hp2 others(48): Show HG00423.hp1 HG00621.hp2 HG00733.hp2 HG00738.hp2 HG01934.hp2 HG02004.hp1 HG02074.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02615.hp1 HG02735.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03195.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18953.hp2 NA18954.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18977.hp2 NA18990.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19081.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0002c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0027 others(47): Show a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0002g0015 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0086 a0001c0001t0006g0013 a0001c0001t0007g0058 a0001c0002t0001g0002 a0001c0002t0001g0012 a0001c0002t0001g0021 a0001c0002t0001g0030 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0095 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0002g0072 a0001c0002t0002g0077 a0001c0002t0003g0002 a0001c0002t0003g0063 a0002c0006t0001g0016 a0002c0006t0001g0036 a0002c0006t0001g0038	51	221	0.2308	6	c.102 others(21): Show c.102+311_102+316dupACACAC	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
VPS50_chr7_93227366_93366123	93240249	A A	ACACTCT ACACTCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02896.hp1 NA18979.hp2 others(1): Show HG00408.hp1 HG02896.hp1 NA18979.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0030 a0001c0001t0005 a0001c0002t0030	a0001c0001t0005g0126 a0001c0001t0005g0131 a0001c0001t0005g0135 others(1): Show a0001c0001t0005g0126 a0001c0001t0005g0131 a0001c0001t0005g0135 a0001c0002t0030g0138	4	231	0.0173	6	c.102 others(21): Show c.102+316_102+317insACTCTC	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
VPS50_chr7_93227366_93366123	93305450	G G	GTTTTAC GTTTTAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02257.hp1 others(5): Show HG02055.hp1 HG02145.hp2 HG02257.hp1 HG02970.hp2 HG02976.hp2 HG03225.hp1 HG03453.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0013 a0001c0001t0009 a0001c0001t0013	a0001c0001t0009g0250 a0001c0001t0009g0253 a0001c0001t0009g0254 others(5): Show a0001c0001t0009g0250 a0001c0001t0009g0253 a0001c0001t0009g0254 a0001c0001t0009g0256 a0001c0001t0009g0259 a0001c0001t0013g0251 a0001c0001t0013g0252 a0001c0001t0013g0255	8	314	0.0255	6	c.145 others(23): Show c.1453-375_1453-374insTACTTT	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding	17/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
VPS50_chr7_93227366_93366123	93364410	T T	TCACACA TCACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG03225.hp1 HG03225.hp2 others(4): Show HG02602.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 others(3): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0002t0001 a0001c0002t0011 a0001c0003t0001	a0001c0001t0006g0013 a0001c0001t0009g0259 a0001c0001t0013g0251 others(4): Show a0001c0001t0006g0013 a0001c0001t0009g0259 a0001c0001t0013g0251 a0001c0001t0013g0252 a0001c0002t0001g0276 a0001c0002t0011g0222 a0001c0003t0001g0296	7	175	0.0400	6	c.59 others(17): Show c.5974_*5975insCACACA	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding		3288		chr7	TogoVar
VPS50_chr7_93227366_93366123	93364410	T T	TCTCACA TCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01346.hp2 HG01361.hp2 others(20): Show HG01243.hp1 HG01346.hp2 HG01361.hp2 HG01517.hp1 HG01943.hp2 HG02056.hp2 HG02080.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp2 HG02717.hp1 HG02896.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp1 HG03516.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 NA18995.hp1 NA19009.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0001c0016 a0004c0008	a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 others(10): Show a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0012 a0001c0002t0029 a0001c0002t0030 a0001c0003t0004 a0001c0003t0012 a0001c0012t0004 a0001c0016t0004 a0004c0008t0004	a0001c0001t0012g0140 a0001c0002t0001g0095 a0001c0002t0002g0282 others(20): Show a0001c0001t0012g0140 a0001c0002t0001g0095 a0001c0002t0002g0282 a0001c0002t0004g0010 a0001c0002t0004g0020 a0001c0002t0004g0051 a0001c0002t0004g0069 a0001c0002t0004g0143 a0001c0002t0004g0148 a0001c0002t0004g0240 a0001c0002t0004g0241 a0001c0002t0004g0268 a0001c0002t0006g0287 a0001c0002t0006g0288 a0001c0002t0012g0010 a0001c0002t0012g0244 a0001c0002t0029g0272 a0001c0002t0030g0138 a0001c0003t0004g0194 a0001c0003t0012g0184 a0001c0012t0004g0050 a0001c0016t0004g0189 a0004c0008t0004g0260	23	191	0.1204	6	c.59 others(17): Show c.5974_*5975insCTCACA	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding		3288		chr7	TogoVar
VPS50_chr7_93227366_93366123	93364437	C C	CACACAG CACACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02451.hp2 NA19240.hp2 HG00639.hp2 HG02451.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0002t0001g0262 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0002t0001g0262	3	295	0.0102	6	c.60 others(17): Show c.6001_*6002insACACAG	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding		3315		chr7	TogoVar
VPS52_chr6_33245278_33276876	33256463	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG01168.hp1 others(6): Show HG00099.hp1 HG00642.hp1 HG01168.hp1 HG01175.hp2 HG01257.hp1 HG03704.hp1 HG03927.hp1 NA18942.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0042 others(4): Show a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0042 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066	9	51	0.1765	6	c.179 others(25): Show c.1795-4498_1795-4493dupTTTTTT	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19			chr6	TogoVar
VPS53_chr17_503668_719839	515956	C C	CTTTTTT CTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG01099.hp1 HG01109.hp2 others(27): Show HG00423.hp2 HG01099.hp1 HG01109.hp2 HG01884.hp1 HG01928.hp1 HG01981.hp1 HG02040.hp1 HG02056.hp1 HG02083.hp1 HG02135.hp1 HG02145.hp1 HG02280.hp1 HG02293.hp1 HG03225.hp2 HG03491.hp2 NA18612.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18979.hp1 NA19007.hp1 NA19010.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19080.hp2 NA19081.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0015 a0001c0001t0085 a0001c0001t0091 others(13): Show a0001c0001t0015 a0001c0001t0085 a0001c0001t0091 a0001c0001t0093 a0001c0001t0102 a0001c0002t0005 a0001c0002t0007 a0001c0002t0054 a0001c0002t0061 a0001c0002t0083 a0002c0003t0008 a0002c0003t0009 a0002c0003t0082 a0002c0003t0087 a0002c0003t0142 a0003c0004t0005	a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 others(27): Show a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 a0001c0001t0085g0152 a0001c0001t0091g0129 a0001c0001t0093g0146 a0001c0001t0102g0201 a0001c0002t0005g0061 a0001c0002t0005g0065 a0001c0002t0007g0058 a0001c0002t0007g0062 a0001c0002t0007g0063 a0001c0002t0007g0081 a0001c0002t0054g0049 a0001c0002t0061g0052 a0001c0002t0083g0221 a0002c0003t0008g0180 a0002c0003t0008g0182 a0002c0003t0008g0183 a0002c0003t0008g0217 a0002c0003t0009g0185 a0002c0003t0009g0186 a0002c0003t0009g0188 a0002c0003t0009g0218 a0002c0003t0082g0184 a0002c0003t0087g0171 a0002c0003t0142g0191 a0003c0004t0005g0027 a0003c0004t0005g0028 a0003c0004t0005g0029	30	99	0.3030	6	c.31 others(17): Show c.3166_*3171dupAAAAAA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	3171		chr17	TogoVar
VPS53_chr17_503668_719839	529398	T T	TCACACA TCACACA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01175.hp2 HG01192.hp2 others(5): Show HG01081.hp2 HG01175.hp2 HG01192.hp2 HG01496.hp2 HG01978.hp2 HG02293.hp2 HG02300.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0113 a0001c0007t0012 others(3): Show a0001c0001t0002 a0001c0001t0113 a0001c0007t0012 a0001c0007t0024 a0001c0007t0065 a0001c0007t0071	a0001c0001t0002g0136 a0001c0001t0113g0230 a0001c0007t0012g0107 others(5): Show a0001c0001t0002g0136 a0001c0001t0113g0230 a0001c0007t0012g0107 a0001c0007t0012g0110 a0001c0007t0012g0111 a0001c0007t0024g0109 a0001c0007t0065g0104 a0001c0007t0071g0112	8	61	0.1311	6	c.208 others(25): Show c.2085+3438_2085+3443dupTGTGTG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	19/21			chr17	TogoVar
VPS53_chr17_503668_719839	546329	T T	TCACACA TCACACA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01167.hp1 HG01981.hp2 others(16): Show HG01070.hp1 HG01167.hp1 HG01981.hp2 HG02109.hp2 HG02280.hp2 HG02895.hp2 HG02922.hp2 HG03225.hp2 HG04184.hp1 NA18955.hp2 NA18957.hp2 NA18984.hp2 NA18990.hp2 NA19007.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19081.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0002c0003 a0003c0004 a0004c0008	a0001c0001t0033 a0001c0001t0092 a0001c0001t0093 others(16): Show a0001c0001t0033 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0103 a0001c0001t0108 a0001c0001t0119 a0001c0002t0001 a0001c0002t0035 a0001c0002t0068 a0001c0002t0074 a0001c0005t0077 a0001c0006t0042 a0002c0003t0018 a0002c0003t0090 a0003c0004t0028 a0004c0008t0020 a0004c0008t0035 a0004c0008t0038	a0001c0001t0033g0119 a0001c0001t0092g0145 a0001c0001t0093g0146 others(16): Show a0001c0001t0033g0119 a0001c0001t0092g0145 a0001c0001t0093g0146 a0001c0001t0094g0199 a0001c0001t0103g0117 a0001c0001t0108g0164 a0001c0001t0119g0123 a0001c0002t0001g0045 a0001c0002t0035g0116 a0001c0002t0068g0093 a0001c0002t0074g0095 a0001c0005t0077g0092 a0001c0006t0042g0002 a0002c0003t0018g0179 a0002c0003t0090g0173 a0003c0004t0028g0038 a0004c0008t0020g0228 a0004c0008t0035g0229 a0004c0008t0038g0203	19	44	0.4318	6	c.186 others(25): Show c.1866+5537_1866+5542dupTGTGTG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	571537	C C	CCCTTTT CCCTTTT	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	6	c.131 others(25): Show c.1314-8793_1314-8792insAAAAGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	13/21			chr17	TogoVar
VPS53_chr17_503668_719839	597949	G G	GCTCTCC GCTCTCC	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	6	c.121 others(25): Show c.1218+3840_1218+3845dupGGAGAG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
VPS53_chr17_503668_719839	656700	A A	ATGTGTG ATGTGTG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02602.hp1 NA18960.hp2 others(3): Show HG02135.hp2 HG02602.hp1 NA18960.hp2 NA18994.hp2 NA19010.hp2 NA19091.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0021 a0001c0005t0046 others(3): Show a0001c0005t0010 a0001c0005t0021 a0001c0005t0046 a0001c0005t0047 a0001c0005t0049 a0001c0005t0050	a0001c0005t0010g0007 a0001c0005t0021g0006 a0001c0005t0046g0096 others(3): Show a0001c0005t0010g0007 a0001c0005t0021g0006 a0001c0005t0046g0096 a0001c0005t0047g0009 a0001c0005t0049g0010 a0001c0005t0050g0011	6	9	0.6667	6	c.373 others(21): Show c.373-753_373-748dupCACACA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	5/21			chr17	TogoVar
VPS53_chr17_503668_719839	662773	G G	GAAAGAA GAAAGAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG02056.hp1 others(4): Show HG00323.hp2 HG00621.hp1 HG02056.hp1 HG03831.hp1 NA18747.hp2 NA18986.hp1 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0003 a0001c0002 a0001c0005 a0002c0003	a0001c0002t0001 a0001c0005t0044 a0002c0003t0009 others(4): Show a0001c0002t0001 a0001c0005t0044 a0002c0003t0009 a0002c0003t0019 a0002c0003t0039 a0002c0003t0040 a0002c0003t0129	a0001c0002t0001g0094 a0001c0005t0044g0044 a0002c0003t0009g0218 others(4): Show a0001c0002t0001g0094 a0001c0005t0044g0044 a0002c0003t0009g0218 a0002c0003t0019g0214 a0002c0003t0039g0176 a0002c0003t0040g0115 a0002c0003t0129g0216	7	161	0.0435	6	c.286 others(21): Show c.286-879_286-878insTTCTTT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar

Search by Variant

Search

Search Results