Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
VPS26A_chr10_69119178_69179412	69151276	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp1 NA19043.hp2 HG02717.hp2 HG02886.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0175 a0001c0001t0002g0011 a0001c0001t0002g0175	3	331	0.0091	15	c.154 others(32): Show c.154-4529_154-4528insAAAAAAACAAAAAAA	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS26A_chr10_69119178_69179412	69151276	A A	AAAAAAAA others(8): Show AAAAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0057 a0001c0001t0005g0057	1	329	0.0030	15	c.154 others(32): Show c.154-4529_154-4528insACAAAAACAAAAAAA	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS26C_chr21_37218422_37272334	37255851	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18522.hp2 NA19030.hp1 HG03579.hp2 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0245 a0001c0001t0006g0050 a0001c0001t0006g0054 a0001c0001t0001g0245 a0001c0001t0006g0050 a0001c0001t0006g0054	3	48	0.0625	15	c.57+ others(32): Show c.57+11372_57+11386dupAAAAAAAAAAAAAAA	VPS26C	ENSG00000157538.14	transcript	ENST00000309117.11	protein_coding	1/7			chr21	TogoVar
VPS33A_chr12_122224564_122271494	122239749	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02602.hp1 NA18956.hp1 others(2): Show HG00423.hp1 HG02602.hp1 NA18956.hp1 NA19001.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0177 a0001c0001t0002g0195 others(2): Show a0001c0001t0002g0145 a0001c0001t0002g0177 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0002g0212	5	51	0.0980	15	c.116 others(32): Show c.1164+114_1164+128dupTTTTTTTTTTTTTTT	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding	9/12			chr12	TogoVar
VPS33B_chr15_90993673_91027594	91017365	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	1	317	0.0032	15	c.178 others(30): Show c.178-342_178-341insTTTTTTTTTTTTTTT	VPS33B	ENSG00000184056.15	transcript	ENST00000333371.8	protein_coding	2/22			chr15	TogoVar
VPS33B_chr15_90993673_91027594	91026979	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG02109.hp2 HG02965.hp1 others(10): Show HG01517.hp2 HG02109.hp2 HG02965.hp1 HG03704.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp1 NA18522.hp1 NA18950.hp2 NA18963.hp1 NA18984.hp1 NA19077.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0011 a0001c0001 a0001c0004 a0003c0011	a0001c0001t0001 a0001c0004t0001 a0003c0011t0005 a0001c0001t0001 a0001c0004t0001 a0003c0011t0005	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0044 others(8): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0044 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0004t0001g0041 a0001c0004t0001g0202 a0003c0011t0005g0243	13	160	0.0813	15	c.-47 others(26): Show c.-4731_-4730insAAAAAAAAAAAAAAA	VPS33B	ENSG00000184056.15	transcript	ENST00000333371.8	protein_coding		4386		chr15	TogoVar
VPS35L_chr16_19550703_19706163	19615968	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02723.hp2 others(1): Show HG02258.hp2 HG02559.hp2 HG02723.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0008t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0008t0002 a0001c0008t0005	a0001c0001t0001g0054 a0001c0002t0001g0134 a0001c0008t0002g0173 others(1): Show a0001c0001t0001g0054 a0001c0002t0001g0134 a0001c0008t0002g0173 a0001c0008t0005g0175	4	71	0.0563	15	c.102 others(32): Show c.1024-130_1024-116dupAATAATAATAATAAT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	12/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19666872	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	150	0.0067	15	c.222 others(34): Show c.2222-2286_2222-2285insCTTTCTTTCTTTCTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35_chr16_46651132_46694178	46663862	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02055.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	2	6	0.3333	15	c.164 others(32): Show c.1648-715_1648-701dupAAAAAAAAAAAAAAA	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding	13/16			chr16	TogoVar
VPS36_chr13_52407606_52455634	52445638	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02922.hp2 HG02615.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0134 a0001c0001t0020g0193 a0001c0001t0001g0134 a0001c0001t0020g0193	2	286	0.0070	15	c.97- others(30): Show c.97-3208_97-3194dupTTTTTTTTTTTTTTT	VPS36	ENSG00000136100.14	transcript	ENST00000378060.9	protein_coding	1/13			chr13	TogoVar
VPS37A_chr8_17241958_17303024	17256290	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02886.hp1 others(1): Show HG02258.hp2 HG02615.hp1 HG02886.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0008 a0001c0001t0013	a0001c0001t0008g0305 a0001c0001t0008g0335 a0001c0001t0013g0328 others(1): Show a0001c0001t0008g0305 a0001c0001t0008g0335 a0001c0001t0013g0328 a0001c0001t0013g0329	4	82	0.0488	15	c.125 others(32): Show c.125+8935_125+8949dupTTTTTTTTTTTTTTT	VPS37A	ENSG00000155975.10	transcript	ENST00000324849.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS37C_chr11_61125257_61166426	61163479	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	30	0.0333	15	c.-20 others(26): Show c.-2096_-2095insAAAAAAAAAAAAAAA	VPS37C	ENSG00000167987.11	transcript	ENST00000301765.10	protein_coding		2054		chr11	TogoVar
VPS37D_chr7_73662831_73677110	73664785	C C	CAAGGTAA others(8): Show CAAGGTAAGGGCTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	378	0.0026	15	c.-31 others(26): Show c.-3174_-3173insAAGGTAAGGGCTAAA	VPS37D	ENSG00000176428.6	transcript	ENST00000324941.5	protein_coding		3045		chr7	TogoVar
VPS41_chr7_38717974_38914191	38723723	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02738.hp1 HG03130.hp1 NA19001.hp2 others(1): Show HG02738.hp1 HG03130.hp1 NA19001.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0099 a0001c0001t0018g0200 a0001c0001t0018g0227 others(1): Show a0001c0001t0018g0099 a0001c0001t0018g0200 a0001c0001t0018g0227 a0001c0001t0018g0237	4	75	0.0533	15	c.25 others(26): Show c.2508_*2522dupTTTTTTTTTTTTTTT	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding	29/29	2522		chr7	TogoVar
VPS45_chr1_150062776_150150329	150150327	G G	GCGCTCCG others(8): Show GCGCTCCGACGACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02970.hp1 HG03486.hp2 others(2): Show HG02257.hp1 HG02970.hp1 HG03486.hp2 HG03540.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 others(2): Show a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0003c0003t0001g0005	5	174	0.0287	15	c.55 others(26): Show c.5531_*5532insCGCTCCGACGACCCC	VPS45	ENSG00000136631.16	transcript	ENST00000644510.2	protein_coding		4999		chr1	TogoVar
VPS4A_chr16_69306350_69331939	69310070	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02257.hp1 HG01081.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0147 a0001c0001t0001g0020 a0001c0001t0001g0147	2	35	0.0571	15	c.-14 others(26): Show c.-1442_-1441insTTTTTTTTTTTTTTT	VPS4A	ENSG00000132612.16	transcript	ENST00000254950.13	protein_coding		1279		chr16	TogoVar
VPS53_chr17_503668_719839	655315	T T	TAAAAAGT others(8): Show TAAAAAGTAGATTGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0005 others(13): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0002c0003 a0002c0010 a0003c0004 a0004c0008 a0005c0009 a0006c0013 a0007c0012	a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 others(155): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0070 a0001c0001t0081 a0001c0001t0084 a0001c0001t0085 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0098 a0001c0001t0099 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0121 a0001c0001t0127 a0001c0001t0130 a0001c0001t0134 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0002t0018 a0001c0002t0020 a0001c0002t0021 a0001c0002t0023 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0035 a0001c0002t0038 a0001c0002t0045 a0001c0002t0052 a0001c0002t0054 a0001c0002t0058 a0001c0002t0061 a0001c0002t0068 a0001c0002t0069 a0001c0002t0072 a0001c0002t0073 a0001c0002t0074 a0001c0002t0075 a0001c0002t0076 a0001c0002t0079 a0001c0002t0080 a0001c0002t0083 a0001c0002t0097 a0001c0002t0106 a0001c0002t0135 a0001c0002t0141 a0001c0005t0010 a0001c0005t0021 a0001c0005t0044 a0001c0005t0046 a0001c0005t0047 a0001c0005t0048 a0001c0005t0049 a0001c0005t0050 a0001c0005t0077 a0001c0006t0001 a0001c0006t0022 a0001c0006t0025 a0001c0006t0041 a0001c0006t0042 a0001c0006t0043 a0001c0006t0057 a0001c0006t0060 a0001c0007t0011 a0001c0007t0012 a0001c0007t0024 a0001c0007t0065 a0001c0007t0071 a0001c0011t0055 a0001c0014t0128 a0001c0015t0120 a0001c0016t0056 a0002c0003t0008 a0002c0003t0009 a0002c0003t0018 a0002c0003t0019 a0002c0003t0027 a0002c0003t0030 a0002c0003t0039 a0002c0003t0040 a0002c0003t0082 a0002c0003t0086 a0002c0003t0087 a0002c0003t0088 a0002c0003t0089 a0002c0003t0090 a0002c0003t0096 a0002c0003t0101 a0002c0003t0124 a0002c0003t0129 a0002c0003t0132 a0002c0003t0133 a0002c0003t0136 a0002c0003t0137 a0002c0003t0138 a0002c0003t0140 a0002c0003t0142 a0002c0010t0020 a0003c0004t0003 a0003c0004t0004 a0003c0004t0005 a0003c0004t0006 a0003c0004t0023 a0003c0004t0028 a0003c0004t0051 a0003c0004t0059 a0003c0004t0062 a0003c0004t0063 a0003c0004t0064 a0003c0004t0066 a0003c0004t0067 a0003c0004t0078 a0004c0008t0020 a0004c0008t0035 a0004c0008t0038 a0004c0008t0039 a0004c0008t0100 a0004c0008t0126 a0005c0009t0123 a0005c0009t0131 a0005c0009t0139 a0006c0013t0125 a0007c0012t0122	a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 others(225): Show a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0011g0013 a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 a0001c0001t0016g0159 a0001c0001t0016g0205 a0001c0001t0016g0206 a0001c0001t0017g0118 a0001c0001t0017g0124 a0001c0001t0017g0125 a0001c0001t0018g0158 a0001c0001t0031g0196 a0001c0001t0031g0197 a0001c0001t0032g0150 a0001c0001t0032g0151 a0001c0001t0033g0119 a0001c0001t0033g0120 a0001c0001t0034g0153 a0001c0001t0034g0155 a0001c0001t0036g0114 a0001c0001t0036g0204 a0001c0001t0037g0126 a0001c0001t0037g0162 a0001c0001t0070g0012 a0001c0001t0081g0046 a0001c0001t0084g0198 a0001c0001t0085g0152 a0001c0001t0091g0129 a0001c0001t0092g0145 a0001c0001t0093g0146 a0001c0001t0094g0199 a0001c0001t0095g0147 a0001c0001t0098g0200 a0001c0001t0099g0220 a0001c0001t0102g0201 a0001c0001t0103g0117 a0001c0001t0104g0212 a0001c0001t0105g0148 a0001c0001t0107g0127 a0001c0001t0108g0164 a0001c0001t0109g0157 a0001c0001t0110g0122 a0001c0001t0111g0142 a0001c0001t0112g0138 a0001c0001t0113g0230 a0001c0001t0114g0195 a0001c0001t0115g0144 a0001c0001t0116g0211 a0001c0001t0117g0143 a0001c0001t0118g0160 a0001c0001t0119g0123 a0001c0001t0121g0132 a0001c0001t0127g0154 a0001c0001t0130g0161 a0001c0001t0134g0165 a0001c0002t0001g0045 a0001c0002t0001g0056 a0001c0002t0001g0066 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0090 a0001c0002t0001g0094 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0072 a0001c0002t0005g0061 a0001c0002t0005g0065 a0001c0002t0007g0058 a0001c0002t0007g0062 a0001c0002t0007g0063 a0001c0002t0007g0081 a0001c0002t0010g0057 a0001c0002t0013g0078 a0001c0002t0013g0083 a0001c0002t0014g0074 a0001c0002t0018g0225 a0001c0002t0020g0224 a0001c0002t0021g0087 a0001c0002t0023g0085 a0001c0002t0025g0076 a0001c0002t0026g0073 a0001c0002t0026g0088 a0001c0002t0027g0070 a0001c0002t0028g0075 a0001c0002t0029g0059 a0001c0002t0029g0060 a0001c0002t0035g0116 a0001c0002t0038g0219 a0001c0002t0045g0064 a0001c0002t0052g0089 a0001c0002t0054g0049 a0001c0002t0058g0084 a0001c0002t0061g0052 a0001c0002t0068g0093 a0001c0002t0069g0071 a0001c0002t0072g0051 a0001c0002t0073g0050 a0001c0002t0074g0095 a0001c0002t0075g0041 a0001c0002t0076g0086 a0001c0002t0079g0069 a0001c0002t0080g0067 a0001c0002t0083g0221 a0001c0002t0097g0223 a0001c0002t0106g0222 a0001c0002t0135g0226 a0001c0002t0141g0202 a0001c0005t0010g0007 a0001c0005t0010g0008 a0001c0005t0021g0006 a0001c0005t0044g0044 a0001c0005t0046g0096 a0001c0005t0047g0009 a0001c0005t0048g0005 a0001c0005t0049g0010 a0001c0005t0050g0011 a0001c0005t0077g0092 a0001c0006t0001g0097 a0001c0006t0001g0113 a0001c0006t0022g0100 a0001c0006t0022g0101 a0001c0006t0025g0098 a0001c0006t0041g0003 a0001c0006t0042g0002 a0001c0006t0043g0001 a0001c0006t0057g0102 a0001c0006t0060g0103 a0001c0007t0011g0105 a0001c0007t0011g0106 a0001c0007t0012g0107 a0001c0007t0012g0110 a0001c0007t0012g0111 a0001c0007t0024g0108 a0001c0007t0024g0109 a0001c0007t0065g0104 a0001c0007t0071g0112 a0001c0011t0055g0091 a0001c0014t0128g0166 a0001c0015t0120g0149 a0001c0016t0056g0099 a0002c0003t0008g0180 a0002c0003t0008g0182 a0002c0003t0008g0183 a0002c0003t0008g0217 a0002c0003t0009g0185 a0002c0003t0009g0186 a0002c0003t0009g0188 a0002c0003t0009g0218 a0002c0003t0018g0179 a0002c0003t0019g0172 a0002c0003t0019g0214 a0002c0003t0019g0231 a0002c0003t0027g0068 a0002c0003t0030g0169 a0002c0003t0030g0181 a0002c0003t0039g0176 a0002c0003t0040g0115 a0002c0003t0040g0168 a0002c0003t0082g0184 a0002c0003t0086g0175 a0002c0003t0087g0171 a0002c0003t0088g0209 a0002c0003t0089g0190 a0002c0003t0090g0173 a0002c0003t0096g0192 a0002c0003t0101g0208 a0002c0003t0124g0193 a0002c0003t0129g0216 a0002c0003t0132g0167 a0002c0003t0133g0194 a0002c0003t0136g0215 a0002c0003t0137g0187 a0002c0003t0138g0170 a0002c0003t0140g0174 a0002c0003t0142g0191 a0002c0010t0020g0156 a0003c0004t0003g0015 a0003c0004t0003g0018 a0003c0004t0003g0036 a0003c0004t0003g0037 a0003c0004t0003g0043 a0003c0004t0004g0014 a0003c0004t0004g0019 a0003c0004t0004g0021 a0003c0004t0004g0025 a0003c0004t0004g0026 a0003c0004t0004g0032 a0003c0004t0004g0040 a0003c0004t0005g0027 a0003c0004t0005g0028 a0003c0004t0005g0029 a0003c0004t0006g0016 a0003c0004t0006g0022 a0003c0004t0006g0023 a0003c0004t0006g0024 a0003c0004t0006g0033 a0003c0004t0023g0004 a0003c0004t0028g0038 a0003c0004t0051g0017 a0003c0004t0059g0020 a0003c0004t0062g0030 a0003c0004t0063g0039 a0003c0004t0064g0031 a0003c0004t0066g0034 a0003c0004t0067g0042 a0003c0004t0078g0035 a0004c0008t0020g0228 a0004c0008t0035g0229 a0004c0008t0038g0203 a0004c0008t0039g0207 a0004c0008t0100g0227 a0004c0008t0126g0232 a0005c0009t0123g0178 a0005c0009t0131g0189 a0005c0009t0139g0177 a0006c0013t0125g0163 a0007c0012t0122g0140	228	229	0.9956	15	c.488 others(30): Show c.488+522_488+523insTTCAATCTACTTTTT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	6/21			chr17	TogoVar
VPS53_chr17_503668_719839	669592	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02738.hp2 HG01074.hp2 HG02738.hp2	a0001 a0002 a0001 a0002	a0001c0011 a0002c0003 a0001c0011 a0002c0003	a0001c0011t0055 a0002c0003t0136 a0001c0011t0055 a0002c0003t0136	a0001c0011t0055g0091 a0002c0003t0136g0215 a0001c0011t0055g0091 a0002c0003t0136g0215	2	88	0.0227	15	c.286 others(32): Show c.286-7712_286-7698dupTTTTTTTTTTTTTTT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS54_chr2_63887150_64024428	63902980	C C	CAACATAA others(8): Show CAACATAACATAACAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01167.hp2 HG02109.hp1 others(2): Show HG01123.hp1 HG01167.hp2 HG02109.hp1 HG02683.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0064 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066	5	188	0.0266	15	c.262 others(34): Show c.2626-3414_2626-3400dupATGTTATGTTATGTT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	20/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	63941339	C C	CCAAGTAG others(8): Show CCAAGTAGCTGGGACT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp2 HG02630.hp2 others(8): Show HG02145.hp1 HG02559.hp2 HG02630.hp2 HG02723.hp1 HG02818.hp1 HG02970.hp2 HG03130.hp1 HG03209.hp2 HG03471.hp2 NA18906.hp1 NA20300.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0006 a0003c0005t0009 a0003c0005t0001 a0003c0005t0006 a0003c0005t0009	a0003c0005t0001g0005 a0003c0005t0001g0007 a0003c0005t0001g0009 others(8): Show a0003c0005t0001g0005 a0003c0005t0001g0007 a0003c0005t0001g0009 a0003c0005t0001g0011 a0003c0005t0001g0012 a0003c0005t0001g0013 a0003c0005t0001g0174 a0003c0005t0006g0006 a0003c0005t0006g0008 a0003c0005t0006g0010 a0003c0005t0009g0004	11	302	0.0364	15	c.139 others(34): Show c.1398+1125_1398+1126insAGTCCCAGCTACTTG	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	11/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	63967718	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01123.hp1 others(16): Show HG00642.hp2 HG00738.hp2 HG01123.hp1 HG01192.hp2 HG01255.hp2 HG01258.hp2 HG02135.hp1 HG02145.hp2 HG02280.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG03490.hp2 HG03831.hp1 NA18952.hp1 NA18965.hp1 NA18994.hp1 NA19001.hp1 NA19060.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 others(16): Show a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0110 a0001c0001t0001g0255 a0001c0001t0001g0262 a0003c0005t0001g0011 a0003c0005t0001g0013	19	128	0.1484	15	c.492 others(32): Show c.492+1224_492+1238dupTTTTTTTTTTTTTTT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	5/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	64005089	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0175 a0002c0006t0001g0175	1	26	0.0385	15	c.-21 others(34): Show c.-21+13834_-21+13848dupAAAAAAAAAAAAAAA	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	1/22			chr2	TogoVar
VPS8_chr3_184807166_185057604	184842186	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0028 a0002c0002t0005g0028	1	100	0.0100	15	c.536 others(32): Show c.536-1045_536-1031dupAAAAAAAAAAAAAAA	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184950216	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19066.hp1 NA19070.hp2 NA18954.hp1 NA19066.hp1 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173	3	15	0.2000	15	c.303 others(34): Show c.3036-7144_3036-7130dupTTTTTTTTTTTTTTT	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	36/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	185034609	T T	TTTGTTGT others(8): Show TTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0264 a0002c0002t0008g0264	1	116	0.0086	15	c.405 others(36): Show c.4056+10241_4056+10255dupGTTGTTGTTGTTGTT	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	46/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VRK2_chr2_58041806_58164871	58120184	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03209.hp2 HG03654.hp2 others(8): Show HG02738.hp1 HG03209.hp2 HG03654.hp2 NA18977.hp2 NA18992.hp1 NA18998.hp1 NA18999.hp2 NA19004.hp2 NA19060.hp1 NA19074.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0049 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0049 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0159 a0001c0001t0001g0216 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0280 a0001c0001t0001g0303	11	135	0.0815	15	c.544 others(32): Show c.544-2907_544-2893dupTTTTTTTTTTTTTTT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58151731	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18973.hp1 NA18975.hp1 others(1): Show HG02074.hp2 NA18973.hp1 NA18975.hp1 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0050 a0001c0001t0001g0056 a0002c0002t0002g0044 others(1): Show a0001c0001t0001g0050 a0001c0001t0001g0056 a0002c0002t0002g0044 a0002c0002t0002g0083	4	29	0.1379	15	c.118 others(34): Show c.1182+5279_1182+5293dupTTTTTTTTTTTTTTT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58156583	T T	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	300	0.0033	15	c.118 others(34): Show c.1183-2746_1183-2732dupGTTTTGTTTTGTTTT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK3_chr19_49971468_50030372	50019674	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA21309.hp2 NA18939.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0153 a0001c0002t0001g0238 a0001c0001t0001g0153 a0001c0002t0001g0238	2	18	0.1111	15	c.-2+ others(28): Show c.-2+896_-2+910dupAAAAAAAAAAAAAAA	VRK3	ENSG00000105053.11	transcript	ENST00000316763.8	protein_coding	2/14			chr19	TogoVar
VRTN_chr14_74343471_74365008	74344244	T T	TCCAAAAA others(8): Show TCCAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(19): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00621.hp1 HG00673.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG02071.hp1 HG02132.hp2 HG02165.hp2 NA18939.hp2 NA18942.hp2 NA18952.hp1 NA18973.hp2 NA18989.hp2 NA19002.hp1 NA19009.hp1 NA19068.hp1 NA19081.hp1 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0020 others(6): Show a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0020 a0001c0001t0002g0032 a0001c0001t0002g0047 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0084 a0001c0001t0006g0001	22	414	0.0531	15	c.-44 others(26): Show c.-4410_-4409insCCAAAAAAAAAAAAA	VRTN	ENSG00000133980.5	transcript	ENST00000256362.5	protein_coding		4226		chr14	TogoVar
VRTN_chr14_74343471_74365008	74344246	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00642.hp1 others(90): Show HG00438.hp2 HG00558.hp1 HG00642.hp1 HG00673.hp2 HG01070.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01884.hp2 HG01928.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02129.hp1 HG02145.hp2 HG02602.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp1 HG03491.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18946.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18981.hp2 NA18983.hp1 NA18988.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19062.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0008 a0009	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0003c0009 a0004c0011 a0008c0013 a0009c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0002t0001 a0001c0006t0001 a0001c0010t0002 a0003c0009t0002 a0004c0011t0001 a0008c0013t0002 a0009c0016t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 others(37): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0023 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0079 a0001c0001t0002g0092 a0001c0001t0004g0001 a0001c0001t0005g0010 a0001c0001t0015g0001 a0001c0002t0001g0007 a0001c0002t0001g0017 a0001c0002t0001g0055 a0001c0006t0001g0002 a0001c0006t0001g0059 a0001c0010t0002g0001 a0003c0009t0002g0020 a0004c0011t0001g0007 a0008c0013t0002g0001 a0009c0016t0002g0001	93	96	0.9688	15	c.-44 others(26): Show c.-4408_-4407insAAAAAAAAAAAAAAA	VRTN	ENSG00000133980.5	transcript	ENST00000256362.5	protein_coding		4224		chr14	TogoVar
VRTN_chr14_74343471_74365008	74344733	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG00741.hp1 others(65): Show HG00280.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01433.hp2 HG01515.hp2 HG01884.hp1 HG01943.hp1 HG01975.hp2 HG02004.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02922.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp2 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18957.hp1 NA18961.hp1 NA18968.hp2 NA18972.hp1 NA18973.hp2 NA18990.hp1 NA18991.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19009.hp1 NA19043.hp2 NA19068.hp1 NA19240.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0019 a0002c0007 a0007c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0008t0001 a0001c0019t0001 a0002c0007t0001 a0007c0020t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 others(39): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0066 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0083 a0001c0001t0003g0009 a0001c0001t0003g0022 a0001c0001t0003g0087 a0001c0001t0006g0001 a0001c0001t0006g0095 a0001c0001t0009g0072 a0001c0002t0001g0017 a0001c0002t0001g0033 a0001c0002t0001g0055 a0001c0003t0001g0006 a0001c0003t0001g0026 a0001c0003t0001g0097 a0001c0005t0001g0027 a0001c0008t0001g0070 a0001c0019t0001g0005 a0002c0007t0001g0039 a0007c0020t0001g0052	68	138	0.4928	15	c.-39 others(26): Show c.-3921_-3920insAAAAAAAAAAAAAAA	VRTN	ENSG00000133980.5	transcript	ENST00000256362.5	protein_coding		3737		chr14	TogoVar
VRTN_chr14_74343471_74365008	74344743	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02486.hp1 HG02723.hp2 others(10): Show HG02257.hp1 HG02486.hp1 HG02723.hp2 HG02809.hp2 HG02897.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp1 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0001t0001 a0001c0001t0003 a0001c0002t0003	a0001c0001t0001g0082 a0001c0001t0003g0009 a0001c0001t0003g0021 others(3): Show a0001c0001t0001g0082 a0001c0001t0003g0009 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0045 a0001c0002t0003g0009	13	425	0.0306	15	c.-39 others(26): Show c.-3911_-3910insAAAAAAAAAAAAAAG	VRTN	ENSG00000133980.5	transcript	ENST00000256362.5	protein_coding		3727		chr14	TogoVar
VSIG10L_chr19_51326541_51347139	51328339	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02615.hp1 HG02615.hp2 others(4): Show HG02258.hp1 HG02615.hp1 HG02615.hp2 HG02886.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0013 a0003c0005t0001g0104 a0003c0005t0001g0105 a0003c0005t0001g0013 a0003c0005t0001g0104 a0003c0005t0001g0105	7	391	0.0179	15	c.42 others(26): Show c.4257_*4271dupTTTTTTTTTTTTTTT	VSIG10L	ENSG00000186806.6	transcript	ENST00000335624.5	protein_coding		3201		chr19	TogoVar
VSIG10_chr12_118058593_118109011	118078937	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02257.hp1 NA18906.hp2 HG00609.hp1 HG02257.hp1 NA18906.hp2	a0003 a0007 a0003 a0007	a0003c0005 a0007c0017 a0003c0005 a0007c0017	a0003c0005t0015 a0003c0005t0031 a0007c0017t0081 a0003c0005t0015 a0003c0005t0031 a0007c0017t0081	a0003c0005t0015g0277 a0003c0005t0031g0288 a0007c0017t0081g0110 a0003c0005t0015g0277 a0003c0005t0031g0288 a0007c0017t0081g0110	3	223	0.0135	15	c.925 others(30): Show c.925+394_925+408dupTTTTTTTTTTTTTTT	VSIG10	ENSG00000176834.14	transcript	ENST00000359236.10	protein_coding	4/8			chr12	TogoVar
VSIG10_chr12_118058593_118109011	118091086	G G	GGTGGCGC others(8): Show GGTGGCGCCACTGTAT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0062	a0001c0002t0062g0059 a0001c0002t0062g0059	1	410	0.0024	15	c.361 others(32): Show c.361+4432_361+4446dupATACAGTGGCGCCAC	VSIG10	ENSG00000176834.14	transcript	ENST00000359236.10	protein_coding	2/8			chr12	TogoVar
VSIG2_chr11_124742474_124757255	124749870	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	302	0.0033	15	c.428 others(27): Show c.428-19_428-5dupTTTTTTTTTTTTTTT	VSIG2	ENSG00000019102.12	transcript	ENST00000326621.10	protein_coding	3/6			chr11	TogoVar
VSIG2_chr11_124742474_124757255	124749884	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	395	0.0025	15	c.428 others(28): Show c.428-19_428-18insGTTTTTTTTTTTTTT	VSIG2	ENSG00000019102.12	transcript	ENST00000326621.10	protein_coding	3/6			chr11	TogoVar
VSIG2_chr11_124742474_124757255	124749885	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp2 HG02886.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	2	288	0.0069	15	c.428 others(28): Show c.428-20_428-19insGTTTTTTTTTTTTTT	VSIG2	ENSG00000019102.12	transcript	ENST00000326621.10	protein_coding	3/6			chr11	TogoVar
VSIG2_chr11_124742474_124757255	124749885	A A	AAAAACAA others(8): Show AAAAACAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02055.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	2	288	0.0069	15	c.428 others(28): Show c.428-20_428-19insGTTTTTTTTTGTTTT	VSIG2	ENSG00000019102.12	transcript	ENST00000326621.10	protein_coding	3/6			chr11	TogoVar
VSX2_chr14_74234449_74267738	74254784	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG02074.hp2 others(11): Show HG00408.hp1 HG00609.hp1 HG02074.hp2 HG02083.hp1 HG02135.hp2 NA18967.hp1 NA18972.hp2 NA19003.hp2 NA19030.hp2 NA19057.hp2 NA19062.hp2 NA19070.hp1 NA19084.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0004 a0001c0007t0007 a0001c0001t0004 a0001c0007t0007	a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0313 others(5): Show a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0007t0007g0318	14	95	0.1474	15	c.580 others(32): Show c.580-4805_580-4804insTTTTTTTTTTTTTTT	VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
VTCN1_chr1_117138587_117215927	117210212	T T	TCAGCAGC others(8): Show TCAGCAGCAGCAGCAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03139.hp2 HG06807.hp2 HG02572.hp1 HG03139.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0210 a0001c0001t0001g0219 a0002c0002t0002g0218 a0001c0001t0001g0210 a0001c0001t0001g0219 a0002c0002t0002g0218	3	163	0.0184	15	c.32+ others(28): Show c.32+597_32+611dupCTGCTGCTGCTGCTG	VTCN1	ENSG00000134258.18	transcript	ENST00000369458.8	protein_coding	1/5			chr1	TogoVar
VTI1A_chr10_112442215_112823744	112611737	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG03139.hp1 others(2): Show HG02055.hp2 HG02559.hp2 HG03139.hp1 HG03209.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015	a0001c0001t0001g0146 a0001c0001t0001g0166 a0001c0001t0006g0125 others(2): Show a0001c0001t0001g0146 a0001c0001t0001g0166 a0001c0001t0006g0125 a0001c0001t0007g0135 a0001c0001t0015g0010	5	34	0.1471	15	c.428 others(34): Show c.428-56473_428-56459dupTTTTTTTTTTTTTTT	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112625640	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01358.hp2 HG02280.hp1 others(10): Show HG01106.hp2 HG01358.hp2 HG02280.hp1 HG02280.hp2 HG02647.hp1 HG02647.hp2 HG03098.hp1 HG03130.hp2 NA18977.hp1 NA18995.hp1 NA18998.hp1 NA19006.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020	a0001c0001t0001g0027 a0001c0001t0001g0063 a0001c0001t0001g0078 others(10): Show a0001c0001t0001g0027 a0001c0001t0001g0063 a0001c0001t0001g0078 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0138 a0001c0001t0004g0096 a0001c0001t0004g0136 a0001c0001t0018g0131 a0001c0001t0019g0030 a0001c0001t0020g0077	13	59	0.2203	15	c.428 others(34): Show c.428-42566_428-42565insAAAAAAAAAAAAAAA	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112652726	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03516.hp1 HG02257.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0002g0045 a0001c0001t0001g0011 a0001c0001t0002g0045	2	48	0.0417	15	c.428 others(34): Show c.428-15479_428-15478insAAAAAAAAAAAAAAA	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112733725	A A	ATTATTTT others(8): Show ATTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02976.hp1 HG01081.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0087 a0001c0001t0001g0005 a0001c0001t0001g0087	2	114	0.0175	15	c.560 others(34): Show c.560+64761_560+64775dupTTTTATTTTATTTTA	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112733773	A A	ATTTTATT others(8): Show ATTTTATTTTATTTTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02055.hp2 others(6): Show HG01243.hp2 HG01891.hp2 HG02055.hp2 HG02559.hp1 HG02922.hp2 HG03139.hp2 HG03471.hp2 HG03654.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0013	a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0099 others(6): Show a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0126 a0001c0001t0001g0146 a0001c0001t0002g0167 a0001c0001t0007g0052 a0001c0001t0013g0106	9	117	0.0769	15	c.560 others(34): Show c.560+64775_560+64776insTTTTATTTTATTTTG	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	7/7			chr10	TogoVar
VTI1A_chr10_112442215_112823744	112765192	A A	ATGTTTTG others(8): Show ATGTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0085 a0001c0001t0005g0085	1	126	0.0079	15	c.561 others(34): Show c.561-50081_561-50067dupGTTTTGTTTTGTTTT	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112811712	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAGAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03130.hp2 HG03139.hp1 HG01109.hp1 HG03130.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0122 a0001c0001t0001g0138 a0001c0001t0006g0125 a0001c0001t0001g0122 a0001c0001t0001g0138 a0001c0001t0006g0125	3	28	0.1071	15	c.561 others(32): Show c.561-3578_561-3577insAAAAAAAAAAAAGAT	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	7/7			chr10	TogoVar
VWA1_chr1_1430690_1447882	1433010	A A	ACCGCTGC others(8): Show ACCGCTGCCCTCACCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0001 a0001c0001t0007g0001	1	225	0.0044	15	c.-27 others(26): Show c.-2739_-2738insCCGCTGCCCTCACCG	VWA1	ENSG00000179403.12	transcript	ENST00000476993.2	protein_coding		2679		chr1	TogoVar

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