Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
VOPP1_chr7_55465613_55577502	55553756	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA19001.hp2 HG02132.hp1 NA19001.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0182 a0001c0002t0004g0212 a0001c0002t0001g0182 a0001c0002t0004g0212	2	6	0.3333	-16	c.54+ others(33): Show c.54+18499_54+18514delGTGTGTGTGTGTGTGT	VOPP1	ENSG00000154978.13	transcript	ENST00000285279.10	protein_coding	1/4			chr7	TogoVar
VPS13A_chr9_77172534_77426537	77357316	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG00735.hp2 others(7): Show HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01081.hp2 HG02683.hp1 HG03490.hp1 HG03492.hp2 HG03710.hp2 HG04115.hp2	a0001 a0006 a0001 a0006	a0001c0007 a0001c0039 a0006c0019 a0001c0007 a0001c0039 a0006c0019	a0001c0007t0009 a0001c0007t0021 a0001c0039t0009 others(1): Show a0001c0007t0009 a0001c0007t0021 a0001c0039t0009 a0006c0019t0023	a0001c0007t0009g0340 a0001c0007t0009g0341 a0001c0007t0009g0342 others(6): Show a0001c0007t0009g0340 a0001c0007t0009g0341 a0001c0007t0009g0342 a0001c0007t0009g0343 a0001c0007t0009g0344 a0001c0007t0021g0001 a0001c0039t0009g0339 a0006c0019t0023g0011 a0006c0019t0023g0012	10	181	0.0552	-16	c.780 others(33): Show c.7807-365_7807-350delAAAAAAAAAAAAAAAA	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	55/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77399167	TAAAAAAA others(9): Show TAAAAAAAAAAAAATAA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02965.hp1 HG02723.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0249 a0001c0001t0016g0250 a0001c0001t0016g0249 a0001c0001t0016g0250	2	267	0.0075	-16	c.919 others(35): Show c.9190-4055_9190-4040delTAAAAAAAAAAAAAAA	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	68/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13B_chr8_99008274_99882580	99287228	GTCTGTCT others(9): Show GTCTGTCTATCTATCTA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	89	0.0112	-16	c.282 others(37): Show c.2824+11978_2824+11993delGTCTATCTATCTATCT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99354266	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0005 a0003c0007t0005	a0003c0007t0005g0049 a0003c0007t0005g0049	1	24	0.0417	-16	c.282 others(37): Show c.2825-29918_2825-29903delTTTTTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99360120	ATCTTTCT others(9): Show ATCTTTCTTTCTTTCTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp2 HG02273.hp1 others(1): Show HG00140.hp1 HG01099.hp2 HG02273.hp1 HG02970.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0009 a0006c0027 a0001c0001 a0005c0009 a0006c0027	a0001c0001t0002 a0005c0009t0004 a0006c0027t0001 a0001c0001t0002 a0005c0009t0004 a0006c0027t0001	a0001c0001t0002g0110 a0001c0001t0002g0115 a0005c0009t0004g0120 others(1): Show a0001c0001t0002g0110 a0001c0001t0002g0115 a0005c0009t0004g0120 a0006c0027t0001g0019	4	97	0.0412	-16	c.282 others(37): Show c.2825-24032_2825-24017delTTCTTTCTTTCTTTCT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99418455	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp1 HG03195.hp2 others(1): Show HG03139.hp1 HG03195.hp1 HG03195.hp2 NA18950.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0003 a0001c0001 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0008t0005 a0002c0003t0003 a0001c0001t0001 a0001c0008t0005 a0002c0003t0003	a0001c0001t0001g0113 a0001c0008t0005g0124 a0002c0003t0003g0058 others(1): Show a0001c0001t0001g0113 a0001c0008t0005g0124 a0002c0003t0003g0058 a0002c0003t0003g0059	4	52	0.0769	-16	c.308 others(37): Show c.3083-13037_3083-13022delTTTCTTTCTTTCTTTC	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	21/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99448121	TTTTATTT others(9): Show TTTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01981.hp2 HG03834.hp2 others(2): Show HG01106.hp1 HG01981.hp2 HG03834.hp2 NA18906.hp2 NA19064.hp1	a0001 a0003 a0021 a0001 a0003 a0021	a0001c0001 a0003c0006 a0021c0026 a0001c0001 a0003c0006 a0021c0026	a0001c0001t0001 a0003c0006t0004 a0021c0026t0003 a0001c0001t0001 a0003c0006t0004 a0021c0026t0003	a0001c0001t0001g0107 a0003c0006t0004g0109 a0003c0006t0004g0127 others(2): Show a0001c0001t0001g0107 a0003c0006t0004g0109 a0003c0006t0004g0127 a0003c0006t0004g0128 a0021c0026t0003g0126	5	53	0.0943	-16	c.344 others(35): Show c.3445+5513_3445+5528delTATTTATTTATTTATT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	23/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99540013	TTATATAT others(9): Show TTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG02300.hp2 others(1): Show HG00735.hp2 HG00741.hp2 HG02300.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0003 a0001c0001t0002 a0002c0003t0003	a0001c0001t0002g0044 a0001c0001t0002g0075 a0001c0001t0002g0117 others(1): Show a0001c0001t0002g0044 a0001c0001t0002g0075 a0001c0001t0002g0117 a0002c0003t0003g0057	4	124	0.0323	-16	c.474 others(37): Show c.4746-16401_4746-16386delATATATATATATATAT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	30/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99540049	ATATATAT others(9): Show ATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02451.hp2 HG00609.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0094 a0001c0002t0001g0096 a0001c0001t0002g0094 a0001c0002t0001g0096	2	118	0.0169	-16	c.474 others(37): Show c.4746-16399_4746-16384delATATATATATATATTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	30/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99640050	AGAAAAGA others(9): Show AGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	1	116	0.0086	-16	c.522 others(35): Show c.5221-1760_5221-1745delGAAAAGAAAAGAAAAG	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61			chr8	TogoVar
VPS13B_chr8_99008274_99882580	99821103	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0006 a0003c0005t0006	a0003c0005t0006g0129 a0003c0005t0006g0129	1	15	0.0667	-16	c.899 others(33): Show c.8995-142_8995-127delACACACACACACACAC	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	49/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99865070	AGCAGGGA others(9): Show AGCAGGGAAAAGTGTCT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0125 a0001c0008t0005g0125	1	132	0.0076	-16	c.112 others(37): Show c.11215+3127_11215+3142delAGGGAAAAGTGTCTGC	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	58/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13C_chr15_61847389_62065447	61858348	ATCTATCT others(9): Show ATCTATCTATCTATCTG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02723.hp1 NA20300.hp2 HG02258.hp2 HG02723.hp1 NA20300.hp2	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0014 a0012c0011t0028 a0012c0011t0014 a0012c0011t0028	a0012c0011t0014g0188 a0012c0011t0014g0190 a0012c0011t0028g0343 a0012c0011t0014g0188 a0012c0011t0014g0190 a0012c0011t0028g0343	3	350	0.0086	-16	c.109 others(37): Show c.10953-1955_10953-1940delCAGATAGATAGATAGA	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	82/84			chr15	TogoVar
VPS13D_chr1_12225030_12517047	12334328	TCTCACAA others(9): Show TCTCACAACATCTCTTA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18906.hp1 HG02965.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0016 a0001c0003t0001 a0001c0003t0016	a0001c0003t0001g0058 a0001c0003t0016g0063 a0001c0003t0001g0058 a0001c0003t0016g0063	2	152	0.0132	-16	c.842 others(33): Show c.8428+982_8428+997delACAACATCTCTTACTC	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	38/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13D_chr1_12225030_12517047	12363951	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0007 a0007	a0007c0029 a0007c0029	a0007c0029t0011 a0007c0029t0011	a0007c0029t0011g0144 a0007c0029t0011g0144	1	29	0.0345	-16	c.104 others(35): Show c.10448+718_10448+733delAAAAAAAAAAAAAAAA	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	52/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13D_chr1_12225030_12517047	12381922	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0012 a0012	a0012c0028 a0012c0028	a0012c0028t0013 a0012c0028t0013	a0012c0028t0013g0141 a0012c0028t0013g0141	1	79	0.0127	-16	c.111 others(36): Show c.11191-1008_11191-993delTTCTTTCTTTCTTTCT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	57/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS26A_chr10_69119178_69179412	69149727	GTTTTTTG others(9): Show GTTTTTTGTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01515.hp2 HG02056.hp2 others(5): Show HG00597.hp1 HG01515.hp2 HG02056.hp2 HG02451.hp2 HG04184.hp2 NA18966.hp2 NA19060.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0020 a0001c0001t0001g0201 a0001c0001t0001g0210 others(5): Show a0001c0001t0001g0020 a0001c0001t0001g0201 a0001c0001t0001g0210 a0001c0001t0001g0248 a0001c0001t0003g0074 a0001c0001t0003g0107 a0001c0001t0004g0187 a0001c0001t0004g0259	8	191	0.0419	-16	c.154 others(33): Show c.154-6078_154-6063delGTTTTTTTTTTTTTTT	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS26A_chr10_69119178_69179412	69160127	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00438.hp1 others(55): Show HG00099.hp2 HG00140.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00735.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01261.hp1 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02451.hp2 HG02559.hp2 HG02647.hp1 HG02735.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03239.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 NA18747.hp2 NA18953.hp2 NA18959.hp2 NA18971.hp2 NA18977.hp1 NA18978.hp1 NA18984.hp2 NA18989.hp2 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19060.hp2 NA19066.hp2 NA19077.hp2 NA19084.hp1 NA19091.hp1 NA19240.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0025	a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0186 others(45): Show a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0254 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0019 a0001c0001t0004g0021 a0001c0001t0004g0187 a0001c0001t0004g0219 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0240 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0265 a0001c0001t0012g0001 a0001c0001t0012g0002 a0001c0001t0025g0264	58	108	0.5370	-16	c.551 others(33): Show c.551+1942_551+1957delCACACACACACACACA	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS26B_chr11_134219671_134252788	134240794	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01361.hp2 HG00639.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	2	159	0.0126	-16	c.545 others(31): Show c.545+658_545+673delGTGTGTGTGTGTGTGT	VPS26B	ENSG00000151502.11	transcript	ENST00000281187.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
VPS33B_chr15_90993673_91027594	91017367	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03041.hp1 HG02109.hp2 HG03041.hp1	a0001 a0005 a0001 a0005	a0001c0004 a0005c0016 a0001c0004 a0005c0016	a0001c0004t0001 a0005c0016t0004 a0001c0004t0001 a0005c0016t0004	a0001c0004t0001g0202 a0005c0016t0004g0049 a0001c0004t0001g0202 a0005c0016t0004g0049	2	129	0.0155	-16	c.178 others(31): Show c.178-359_178-344delATATATATATATATAT	VPS33B	ENSG00000184056.15	transcript	ENST00000333371.8	protein_coding	2/22			chr15	TogoVar
VPS35L_chr16_19550703_19706163	19570834	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG01081.hp1 others(24): Show HG00140.hp1 HG00558.hp2 HG01081.hp1 HG01192.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG02027.hp2 HG02074.hp1 HG02083.hp2 HG02135.hp1 HG02165.hp2 HG03209.hp1 HG03239.hp1 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18961.hp1 NA18964.hp1 NA18968.hp2 NA19063.hp1 NA19079.hp1 NA19082.hp2 NA19085.hp2 NA19088.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 a0001c0001t0001 a0001c0002t0001 a0001c0007t0001	a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0041 others(24): Show a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0243 a0001c0001t0001g0274 a0001c0002t0001g0002 a0001c0002t0001g0012 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0007t0001g0001	27	45	0.6000	-16	c.285 others(33): Show c.285+1284_285+1299delATATATATATATATAT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19666872	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	150	0.0067	-16	c.222 others(35): Show c.2222-2241_2222-2226delTCTTTCTTTCTTTCTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19679468	ATTATTTA others(9): Show ATTATTTATTTATTTAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG00738.hp2 others(22): Show HG00140.hp1 HG00609.hp2 HG00738.hp2 HG01175.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp2 HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02615.hp1 HG02647.hp2 HG02723.hp1 HG02818.hp2 HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03516.hp1 HG03654.hp2 NA21309.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0001c0013 a0005c0019	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0012t0002 a0001c0013t0003 a0005c0019t0002	a0001c0001t0001g0017 a0001c0001t0001g0050 a0001c0001t0001g0054 others(22): Show a0001c0001t0001g0017 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0110 a0001c0001t0001g0160 a0001c0001t0001g0177 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0268 a0001c0001t0001g0274 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0186 a0001c0001t0002g0190 a0001c0001t0002g0200 a0001c0002t0001g0046 a0001c0002t0001g0118 a0001c0003t0001g0057 a0001c0003t0002g0066 a0001c0012t0002g0283 a0001c0013t0003g0058 a0005c0019t0002g0048	25	109	0.2294	-16	c.236 others(35): Show c.2362-2722_2362-2707delATTTATTTATTTATTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	27/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19679503	ATTTATTT others(9): Show ATTTATTTATTTATTTT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0263 a0001c0002t0001g0263	1	282	0.0035	-16	c.236 others(35): Show c.2362-2718_2362-2703delATTTATTTATTTTTTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	27/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35_chr16_46651132_46694178	46673526	AGGAAGGG others(9): Show AGGAAGGGAACTGCTGG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp2 HG02486.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0078 a0001c0001t0001g0079	2	218	0.0092	-16	c.116 others(33): Show c.1160+772_1160+787delCCAGCAGTTCCCTTCC	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding	10/16			chr16	TogoVar
VPS37A_chr8_17241958_17303024	17289481	GTCAGGTT others(9): Show GTCAGGTTTGTCAAAGA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	382	0.0026	-16	c.119 others(35): Show c.1194+3059_1194+3074delGTTTGTCAAAGATCAG	VPS37A	ENSG00000155975.10	transcript	ENST00000324849.9	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS37B_chr12_122860330_122901124	122874947	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02818.hp1 HG03486.hp2 others(1): Show HG02738.hp2 HG02818.hp1 HG03486.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0014 a0001c0001t0001 a0001c0005t0014	a0001c0001t0001g0053 a0001c0001t0001g0104 a0001c0001t0001g0115 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0005t0014g0148	4	6	0.6667	-16	c.112 others(33): Show c.112-3902_112-3887delTTTTTTTTTTTTTTTT	VPS37B	ENSG00000139722.7	transcript	ENST00000267202.7	protein_coding	1/3			chr12	TogoVar
VPS37B_chr12_122860330_122901124	122899050	AACACACA others(9): Show AACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00609.hp1 others(36): Show HG00423.hp1 HG00438.hp1 HG00609.hp1 HG00642.hp2 HG01069.hp1 HG01261.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02132.hp1 HG02602.hp1 HG02683.hp2 HG03831.hp2 HG04228.hp1 NA18612.hp1 NA18943.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18966.hp2 NA18974.hp2 NA18978.hp1 NA18982.hp1 NA18987.hp2 NA18990.hp2 NA18991.hp1 NA18995.hp1 NA18997.hp1 NA19003.hp1 NA19055.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19079.hp1 NA19082.hp1 NA19086.hp2 NA19087.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0020	a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0002g0012 others(33): Show a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0036 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0006g0156 a0001c0001t0006g0158 a0001c0001t0020g0161	39	45	0.8667	-16	c.-30 others(27): Show c.-3004_-2989delGTGTGTGTGTGTGTGT	VPS37B	ENSG00000139722.7	transcript	ENST00000267202.7	protein_coding		2927		chr12	TogoVar
VPS39_chr15_42153701_42213304	42179575	CAATAAAT others(9): Show CAATAAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01978.hp2 HG02055.hp1 others(1): Show HG01361.hp2 HG01978.hp2 HG02055.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0002t0003g0106 others(1): Show a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0002t0003g0106 a0001c0002t0003g0107	4	76	0.0526	-16	c.719 others(33): Show c.719-1021_719-1006delTATTTATTTATTTATT	VPS39	ENSG00000166887.16	transcript	ENST00000318006.10	protein_coding	8/24			chr15	TogoVar
VPS41_chr7_38717974_38914191	38720558	GTGTGTAT others(9): Show GTGTGTATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01516.hp2 HG01517.hp2 others(3): Show HG00140.hp1 HG01516.hp2 HG01517.hp2 HG02293.hp2 HG03486.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0004 a0001c0001t0001 a0001c0001t0005 a0001c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0005g0046 a0001c0002t0004g0106	6	221	0.0271	-16	c.56 others(27): Show c.5672_*5687delTATATATATATACACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2415		chr7	TogoVar
VPS41_chr7_38717974_38914191	38720560	GTGTATAT others(9): Show GTGTATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01167.hp2 HG01169.hp2 others(1): Show HG00642.hp1 HG01167.hp2 HG01169.hp2 HG02523.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0052 a0002c0004t0001 a0001c0002t0052 a0002c0004t0001	a0001c0002t0052g0111 a0002c0004t0001g0261 a0002c0004t0001g0262 others(1): Show a0001c0002t0052g0111 a0002c0004t0001g0261 a0002c0004t0001g0262 a0002c0004t0001g0263	4	222	0.0180	-16	c.56 others(27): Show c.5670_*5685delTATATATATATATACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2413		chr7	TogoVar
VPS41_chr7_38717974_38914191	38720562	GTATATAT others(9): Show GTATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	172	0.0058	-16	c.56 others(27): Show c.5668_*5683delTATATATATATATATA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2411		chr7	TogoVar
VPS41_chr7_38717974_38914191	38761263	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02922.hp1 HG02615.hp2 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0013 a0001c0005 a0001c0013	a0001c0005t0031 a0001c0013t0046 a0001c0005t0031 a0001c0013t0046	a0001c0005t0031g0098 a0001c0013t0046g0083 a0001c0005t0031g0098 a0001c0013t0046g0083	2	3	0.6667	-16	c.142 others(35): Show c.1422+2176_1422+2191delAAAAAAAAAAAAAAAA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding	17/28			chr7	TogoVar
VPS41_chr7_38717974_38914191	38860697	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0243 a0001c0001t0005g0243	1	18	0.0556	-16	c.246 others(33): Show c.246+1832_246+1847delCACACACACACACACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding	4/28			chr7	TogoVar
VPS4A_chr16_69306350_69331939	69310070	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02004.hp2 HG03834.hp1 others(2): Show HG00673.hp2 HG02004.hp2 HG03834.hp1 HG03927.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0010 a0001c0001t0001 a0001c0002t0002 a0001c0002t0010	a0001c0001t0001g0038 a0001c0001t0001g0089 a0001c0002t0002g0005 others(2): Show a0001c0001t0001g0038 a0001c0001t0001g0089 a0001c0002t0002g0005 a0001c0002t0002g0010 a0001c0002t0010g0198	5	38	0.1316	-16	c.-14 others(27): Show c.-1441_-1426delTTTTTTTTTTTTTTTT	VPS4A	ENSG00000132612.16	transcript	ENST00000254950.13	protein_coding		1279		chr16	TogoVar
VPS50_chr7_93227366_93366123	93312643	TTCTTCTA others(9): Show TTCTTCTATTTCTTCTA	T T	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	314	0.0032	-16	c.185 others(35): Show c.1855+1389_1855+1404delCTTCTATTTCTTCTAT	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
VPS53_chr17_503668_719839	546329	TCACACAC others(9): Show TCACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0096 a0002c0003t0096	a0002c0003t0096g0192 a0002c0003t0096g0192	1	26	0.0385	-16	c.186 others(35): Show c.1866+5527_1866+5542delTGTGTGTGTGTGTGTG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	610127	TCACACAC others(9): Show TCACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG04199.hp2 NA18612.hp2 others(6): Show HG03516.hp1 HG04199.hp2 NA18612.hp2 NA18984.hp2 NA18990.hp1 NA19011.hp2 NA19064.hp2 NA19068.hp1 NA19080.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0081 a0001c0001t0117 a0001c0002t0068 others(4): Show a0001c0001t0081 a0001c0001t0117 a0001c0002t0068 a0001c0002t0074 a0003c0004t0004 a0003c0004t0028 a0003c0004t0059	a0001c0001t0081g0046 a0001c0001t0117g0143 a0001c0002t0068g0093 others(6): Show a0001c0001t0081g0046 a0001c0001t0117g0143 a0001c0002t0068g0093 a0001c0002t0074g0095 a0003c0004t0004g0021 a0003c0004t0004g0025 a0003c0004t0004g0026 a0003c0004t0028g0038 a0003c0004t0059g0020	9	11	0.8182	-16	c.111 others(35): Show c.1117-8247_1117-8232delTGTGTGTGTGTGTGTG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VPS53_chr17_503668_719839	629809	CCACACAC others(9): Show CCACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	10	0.1000	-16	c.688 others(33): Show c.688-1594_688-1579delTGTGTGTGTGTGTGTG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	8/21			chr17	TogoVar
VPS53_chr17_503668_719839	662834	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0105 a0001c0001t0105	a0001c0001t0105g0148 a0001c0001t0105g0148	1	94	0.0106	-16	c.286 others(31): Show c.286-955_286-940delCCTTCCTTCCTTCCTT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS54_chr2_63887150_64024428	63975609	ACATGGAG others(9): Show ACATGGAGATGGCTTCT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0052 a0001c0004t0001g0052	1	302	0.0033	-16	c.379 others(33): Show c.379-3381_379-3366delAGAAGCCATCTCCATG	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	3/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	63985680	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	99	0.0101	-16	c.-20 others(33): Show c.-20-1677_-20-1662delGTGTGTGTGTGTGTGT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	1/22			chr2	TogoVar
VPS8_chr3_184807166_185057604	184810633	ATATCTAT others(9): Show ATATCTATCTATCTATC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0239 a0002c0002t0001g0239	1	53	0.0189	-16	c.-16 others(27): Show c.-1680_-1665delTATCTATCTATCTATC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding		1532		chr3	TogoVar
VPS8_chr3_184807166_185057604	184860458	TACACACA others(9): Show TACACACACATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0004 a0005c0011t0004	a0005c0011t0004g0258 a0005c0011t0004g0258	1	272	0.0037	-16	c.122 others(33): Show c.1224+403_1224+418delTACACACACACACACA	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	15/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184888329	GCCTACGG others(9): Show GCCTACGGGAGAAATTT	G G	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0005 a0003c0004t0005g0005	1	272	0.0037	-16	c.178 others(35): Show c.1781+2175_1781+2190delCTACGGGAGAAATTTC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	22/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184936515	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0227 a0002c0002t0001g0227	1	37	0.0270	-16	c.298 others(33): Show c.2988+211_2988+226delTGTGTGTGTGTGTGTG	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	35/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184998479	TTATATAT others(9): Show TTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02970.hp2 HG01175.hp1 HG02970.hp2	a0003 a0004 a0003 a0004	a0003c0005 a0004c0003 a0003c0005 a0004c0003	a0003c0005t0001 a0004c0003t0001 a0003c0005t0001 a0004c0003t0001	a0003c0005t0001g0054 a0004c0003t0001g0075 a0003c0005t0001g0054 a0004c0003t0001g0075	2	4	0.5000	-16	c.383 others(35): Show c.3837-1172_3837-1157delTATATATATATATATA	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	44/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VRK1_chr14_96792382_96886609	96867456	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02976.hp2 HG03540.hp1 HG02970.hp1 HG02976.hp2 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0081 a0001c0003t0001g0093 a0001c0003t0001g0094 a0001c0003t0001g0081 a0001c0003t0001g0093 a0001c0003t0001g0094	3	35	0.0857	-16	c.106 others(35): Show c.1068+6742_1068+6757delGTGTGTGTGTGTGTGT	VRK1	ENSG00000100749.9	transcript	ENST00000216639.8	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
VRK2_chr2_58041806_58164871	58151731	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18945.hp1 HG02886.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0274 a0001c0001t0001g0275	2	27	0.0741	-16	c.118 others(35): Show c.1182+5278_1182+5293delTTTTTTTTTTTTTTTT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr2	TogoVar

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