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
HEATR5B_chr2_36975895_37089372	37037145	G G	GAGATGGA others(17): Show GAGATGGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0251 a0001c0002t0001g0251	1	314	0.0032	24	c.321 others(41): Show c.3216+709_3216+710insATATATATATATATATATCCATCT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02559.hp2 NA18954.hp1 HG01106.hp1 HG02559.hp2 NA18954.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0014 a0002c0003 a0004c0018 a0001c0014 a0002c0003 a0004c0018	a0001c0014t0001 a0002c0003t0002 a0004c0018t0013 a0001c0014t0001 a0002c0003t0002 a0004c0018t0013	a0001c0014t0001g0043 a0002c0003t0002g0285 a0004c0018t0013g0313 a0001c0014t0001g0043 a0002c0003t0002g0285 a0004c0018t0013g0313	3	314	0.0096	24	c.321 others(41): Show c.3216+709_3216+710insATATATATATATATATATATATAT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HEATR6_chr17_60036008_60083921	60049122	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 NA18906.hp1 HG02055.hp1 HG02145.hp1 NA18906.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0017 a0005c0005t0017	a0005c0005t0017g0200 a0005c0005t0017g0201 a0005c0005t0017g0202 a0005c0005t0017g0200 a0005c0005t0017g0201 a0005c0005t0017g0202	3	250	0.0120	24	c.254 others(41): Show c.2547+434_2547+457dupACACACACACACACACACACACAC	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	16/19			chr17	TogoVar
HEBP1_chr12_12969870_13005265	13000192	C C	CGGCGGCA others(17): Show CGGCGGCAGGGCGGCAGGGCGGCAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02818.hp2 HG02970.hp2 others(4): Show HG02451.hp2 HG02818.hp2 HG02970.hp2 HG03195.hp1 NA18950.hp1 NA18979.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0063 others(2): Show a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0005g0065	7	396	0.0177	24	c.-10 others(32): Show c.-102_-79dupCTGCCGCCCTGCCGCCCTGCCGCC	HEBP1	ENSG00000013583.10	transcript	ENST00000014930.9	protein_coding	1/4	79		chr12	TogoVar
HEBP1_chr12_12969870_13005265	13000454	G G	GGCAGCAG others(17): Show GGCAGCAGTCCAGCAGTGCAGCAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(114): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00642.hp2 HG00741.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02056.hp2 HG02074.hp2 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02258.hp1 HG02293.hp1 HG02559.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02976.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp2 NA18939.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18953.hp2 NA18955.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18985.hp1 NA18989.hp1 NA18997.hp1 NA18998.hp1 NA19006.hp2 NA19009.hp1 NA19010.hp2 NA19055.hp1 NA19058.hp1 NA19062.hp2 NA19064.hp2 NA19074.hp1 NA19080.hp2 NA19082.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015	a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0001g0049 others(74): Show a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0005g0029 a0001c0001t0005g0065 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0007g0062 a0001c0001t0015g0234	117	396	0.2955	24	c.-34 others(33): Show c.-341_-340insACTGCTGCACTGCTGGACTGCTGC	HEBP1	ENSG00000013583.10	transcript	ENST00000014930.9	protein_coding		190		chr12	TogoVar
HEBP1_chr12_12969870_13005265	13000454	G G	GGCAGCAG others(17): Show GGCAGCAGTCCAGCAGTGCAGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	396	0.0025	24	c.-34 others(33): Show c.-341_-340insACCGCTGCACTGCTGGACTGCTGC	HEBP1	ENSG00000013583.10	transcript	ENST00000014930.9	protein_coding		190		chr12	TogoVar
HECA_chr6_139130080_139185802	139152418	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02027.hp2 HG02735.hp1 others(2): Show HG00597.hp2 HG02027.hp2 HG02735.hp1 HG03239.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0003 a0001c0006t0003 a0001c0002t0003 a0001c0006t0003	a0001c0002t0003g0027 a0001c0002t0003g0051 a0001c0002t0003g0059 others(2): Show a0001c0002t0003g0027 a0001c0002t0003g0051 a0001c0002t0003g0059 a0001c0002t0003g0116 a0001c0006t0003g0027	5	314	0.0159	24	c.272 others(43): Show c.272-13862_272-13839dupGTGTGTGTGTGTGTGTGTGTGTGT	HECA	ENSG00000112406.5	transcript	ENST00000367658.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
HECTD1_chr14_31095117_31212793	31134042	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02615.hp1 others(2): Show HG02055.hp1 HG02257.hp1 HG02615.hp1 HG02647.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0315 others(2): Show a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0317 a0001c0002t0001g0320	5	342	0.0146	24	c.357 others(41): Show c.3579-368_3579-367insTTTTTTTTTTTTTTTTTTTTTTTT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	22/42			chr14	TogoVar
HECTD1_chr14_31095117_31212793	31188142	T T	TAGATAGA others(17): Show TAGATAGATGGATAGACAGACAGAC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0004 a0001c0018t0004	a0001c0018t0004g0017 a0001c0018t0004g0017	1	342	0.0029	24	c.141 others(41): Show c.141-9889_141-9888insGTCTGTCTGTCTATCCATCTATCT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	2/42			chr14	TogoVar
HECTD4_chr12_112155195_112387431	112323947	C C	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTCCTTTCT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0001 a0001c0003t0009g0001	1	270	0.0037	24	c.178 others(41): Show c.178-4206_178-4205insAGAAAGGAAGAAAGAAAGAAAGAA	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112323969	C C	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0214 a0001c0010t0001g0214	1	270	0.0037	24	c.178 others(41): Show c.178-4228_178-4227insAAAGAAAGAAAGAAAGAAAGAAAG	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112335143	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03516.hp2 NA19043.hp2 others(2): Show HG02451.hp2 HG03516.hp2 NA19043.hp2 NA19079.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0004g0069 others(2): Show a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0002t0001g0243	5	270	0.0185	24	c.178 others(43): Show c.178-15402_178-15401insGTGTGTGTGTGTGTGTGTGTGTGT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECW1_chr7_43107647_43571001	43237072	A A	AGGGAGGG others(17): Show AGGGAGGGAGGGAGGAAGCAGGGAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0171 a0001c0006t0001g0171	1	182	0.0055	24	c.-31 others(41): Show c.-31-6790_-31-6767dupGGAAGCAGGGATGGGAGGGAGGGA	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43336018	T T	TTCTTTTT others(17): Show TTCTTTTTCTTTCTTTCTCTCTCCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG01257.hp1 others(8): Show HG00438.hp2 HG00621.hp2 HG01257.hp1 HG01258.hp2 HG03239.hp2 HG03491.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0002c0005	a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0004t0002 a0001c0004t0003 a0001c0006t0001 a0001c0010t0002 a0001c0010t0034 a0002c0005t0002	a0001c0001t0002g0034 a0001c0001t0003g0162 a0001c0003t0001g0165 others(8): Show a0001c0001t0002g0034 a0001c0001t0003g0162 a0001c0003t0001g0165 a0001c0004t0002g0053 a0001c0004t0003g0065 a0001c0006t0001g0125 a0001c0010t0002g0054 a0001c0010t0002g0055 a0001c0010t0002g0056 a0001c0010t0034g0052 a0002c0005t0002g0008	11	182	0.0604	24	c.460 others(43): Show c.460+15281_460+15282insTTCTTTCTTTCTCTCTCCCTCTTT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43430779	T T	TTTATTAT others(17): Show TTTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00558.hp1 others(31): Show HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01175.hp1 HG01255.hp2 HG01361.hp2 HG01884.hp1 HG02027.hp1 HG02165.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02602.hp1 HG02809.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp1 HG03486.hp2 HG03579.hp1 NA18941.hp1 NA18942.hp2 NA18946.hp2 NA18952.hp2 NA18957.hp1 NA19066.hp2 NA19068.hp2 NA19087.hp1 NA19090.hp1 NA20805.hp2 NA21309.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0012 a0001c0013 a0001c0014 a0001c0017 a0001c0018 a0001c0023 a0004c0015 a0006c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0001t0030 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0004t0001 a0001c0004t0009 a0001c0004t0026 a0001c0004t0032 a0001c0006t0002 a0001c0006t0003 a0001c0006t0019 a0001c0006t0033 a0001c0012t0007 a0001c0013t0006 a0001c0014t0001 a0001c0017t0003 a0001c0018t0001 a0001c0023t0006 a0004c0015t0001 a0006c0020t0004	a0001c0001t0001g0062 a0001c0001t0002g0019 a0001c0001t0002g0045 others(31): Show a0001c0001t0001g0062 a0001c0001t0002g0019 a0001c0001t0002g0045 a0001c0001t0002g0088 a0001c0001t0004g0023 a0001c0001t0004g0057 a0001c0001t0015g0012 a0001c0001t0030g0098 a0001c0002t0001g0104 a0001c0002t0001g0141 a0001c0002t0003g0069 a0001c0002t0003g0151 a0001c0002t0004g0011 a0001c0002t0004g0015 a0001c0002t0004g0030 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0004t0001g0085 a0001c0004t0009g0121 a0001c0004t0026g0148 a0001c0004t0032g0027 a0001c0006t0002g0050 a0001c0006t0003g0150 a0001c0006t0019g0073 a0001c0006t0033g0042 a0001c0012t0007g0177 a0001c0013t0006g0158 a0001c0014t0001g0091 a0001c0014t0001g0132 a0001c0017t0003g0107 a0001c0018t0001g0129 a0001c0023t0006g0136 a0004c0015t0001g0176 a0006c0020t0004g0020	34	182	0.1868	24	c.802 others(41): Show c.802-7204_802-7203insATTATTATTATTATTATTATTATT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	8/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW2_chr2_196189072_196598554	196278131	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0026 a0001c0014t0026	a0001c0014t0026g0078 a0001c0014t0026g0078	1	112	0.0089	24	c.313 others(41): Show c.3135+396_3135+397insATATATATATATATATATATATAT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	15/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196286387	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0059 a0001c0004t0007g0059	1	112	0.0089	24	c.300 others(43): Show c.3000+6177_3000+6178insATATATATATATATATATATATAT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	14/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196369342	G G	GTCTCTCT others(17): Show GTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0005 a0001c0001t0014g0005	1	112	0.0089	24	c.293 others(43): Show c.293-25602_293-25579dupGAGAGAGAGAGAGAGAGAGAGAGA	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	2/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196582069	A A	AAATAATA others(17): Show AAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02723.hp1 others(6): Show HG02145.hp1 HG02280.hp1 HG02723.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03540.hp2 NA18906.hp1 NA18906.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0023 a0006c0024	a0001c0001t0004 a0001c0001t0017 a0001c0001t0023 others(5): Show a0001c0001t0004 a0001c0001t0017 a0001c0001t0023 a0001c0002t0005 a0001c0006t0002 a0001c0006t0005 a0001c0023t0004 a0006c0024t0003	a0001c0001t0004g0107 a0001c0001t0004g0110 a0001c0001t0017g0111 others(6): Show a0001c0001t0004g0107 a0001c0001t0004g0110 a0001c0001t0017g0111 a0001c0001t0023g0109 a0001c0002t0005g0091 a0001c0006t0002g0092 a0001c0006t0005g0096 a0001c0023t0004g0016 a0006c0024t0003g0108	9	112	0.0804	24	c.-36 others(43): Show c.-36+11415_-36+11438dupATTATTATTATTATTATTATTATT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28			chr2	TogoVar
HEG1_chr3_124960710_125060997	124987924	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03453.hp1 HG03516.hp1 HG02630.hp1 HG03453.hp1 HG03516.hp1	a0002 a0021 a0036 a0002 a0021 a0036	a0002c0082 a0021c0023 a0036c0069 a0002c0082 a0021c0023 a0036c0069	a0002c0082t0069 a0021c0023t0031 a0036c0069t0111 a0002c0082t0069 a0021c0023t0031 a0036c0069t0111	a0002c0082t0069g0190 a0021c0023t0031g0182 a0036c0069t0111g0203 a0002c0082t0069g0190 a0021c0023t0031g0182 a0036c0069t0111g0203	3	362	0.0083	24	c.373 others(43): Show c.3733+2839_3733+2862dupGTGTGTGTGTGTGTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(17): Show CACACACACACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0200 a0001c0002t0032g0200	1	362	0.0028	24	c.373 others(43): Show c.3733+2834_3733+2835insATATATATATATGTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HELB_chr12_66297493_66343199	66327064	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0010 a0010	a0010c0027 a0010c0027	a0010c0027t0001 a0010c0027t0001	a0010c0027t0001g0223 a0010c0027t0001g0223	1	390	0.0026	24	c.267 others(43): Show c.2670+1939_2670+1940insTATATATATATATATATATATATA	HELB	ENSG00000127311.10	transcript	ENST00000247815.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
HELLS_chr10_94540788_94607099	94542798	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02615.hp1 HG02622.hp2 others(4): Show HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02896.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0033 a0001c0002t0001g0037 others(2): Show a0001c0002t0001g0002 a0001c0002t0001g0033 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0043	7	358	0.0196	24	c.-31 others(35): Show c.-3124_-3123insTTTTTTTTTTTTTTTTTTTTTTTT	HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding		2989		chr10	TogoVar
HELZ2_chr20_63553086_63579239	63559675	T T	TGGGAGTC others(17): Show TGGGAGTCAGTCAGGGTCAGGTGGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0059 a0059	a0059c0086 a0059c0086	a0059c0086t0077 a0059c0086t0077	a0059c0086t0077g0079 a0059c0086t0077g0079	1	390	0.0026	24	c.782 others(41): Show c.7825+252_7825+253insCCCACCTGACCCTGACTGACTCCC	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19			chr20	TogoVar
HELZ_chr17_67065444_67250196	67086631	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0107 a0001c0003t0002g0107	1	274	0.0037	24	c.549 others(41): Show c.5494+174_5494+197dupATATATATATATATATATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	32/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATAGAGA others(17): Show TATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0012 a0004c0005t0012	a0004c0005t0012g0053 a0004c0005t0012g0053	1	274	0.0037	24	c.524 others(43): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTCTCTCTAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATAGA others(17): Show TATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG04228.hp2 NA19090.hp1 HG02148.hp2 HG04228.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0235 a0002c0002t0003g0057 a0002c0002t0003g0063 a0001c0001t0001g0235 a0002c0002t0003g0057 a0002c0002t0003g0063	3	274	0.0110	24	c.524 others(43): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTCTCTATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(17): Show TATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG01361.hp2 others(5): Show HG00280.hp1 HG00408.hp2 HG01361.hp2 HG02293.hp2 HG02300.hp1 HG03491.hp1 NA19010.hp1 NA19054.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0002c0002t0003	a0001c0001t0001g0176 a0001c0001t0001g0236 a0001c0001t0006g0229 others(5): Show a0001c0001t0001g0176 a0001c0001t0001g0236 a0001c0001t0006g0229 a0001c0001t0008g0218 a0001c0001t0008g0240 a0002c0002t0003g0048 a0002c0002t0003g0061 a0002c0002t0003g0068	8	274	0.0292	24	c.524 others(43): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTCTATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(17): Show TATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG01070.hp1 others(7): Show HG00558.hp1 HG00609.hp1 HG01070.hp1 HG01071.hp1 NA18941.hp2 NA18964.hp2 NA18994.hp1 NA19005.hp1 NA19079.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0015 a0002c0002t0003 a0002c0002t0014	a0001c0001t0001g0175 a0001c0001t0001g0230 a0001c0001t0001g0231 others(7): Show a0001c0001t0001g0175 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0002g0217 a0001c0001t0008g0171 a0001c0001t0008g0188 a0001c0001t0015g0180 a0002c0002t0003g0069 a0002c0002t0014g0017	10	274	0.0365	24	c.524 others(43): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(17): Show TATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02602.hp1 NA18970.hp1 others(4): Show HG01515.hp1 HG02602.hp1 NA18970.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19079.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0013 a0013c0014 a0001c0001 a0001c0013 a0013c0014	a0001c0001t0001 a0001c0001t0008 a0001c0013t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0013t0001 a0013c0014t0006	a0001c0001t0001g0088 a0001c0001t0001g0177 a0001c0001t0001g0197 others(4): Show a0001c0001t0001g0088 a0001c0001t0001g0177 a0001c0001t0001g0197 a0001c0001t0001g0207 a0001c0001t0008g0210 a0001c0013t0001g0179 a0013c0014t0006g0215	7	274	0.0256	24	c.524 others(43): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTATATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(17): Show TATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03017.hp2 NA18959.hp1 others(2): Show HG01891.hp2 HG03017.hp2 NA18959.hp1 NA19066.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0002c0002 a0001c0001 a0001c0012 a0002c0002	a0001c0001t0015 a0001c0012t0001 a0002c0002t0005 others(1): Show a0001c0001t0015 a0001c0012t0001 a0002c0002t0005 a0002c0002t0014	a0001c0001t0015g0212 a0001c0012t0001g0194 a0002c0002t0005g0083 others(2): Show a0001c0001t0015g0212 a0001c0012t0001g0194 a0002c0002t0005g0083 a0002c0002t0014g0021 a0002c0002t0014g0029	5	274	0.0183	24	c.524 others(43): Show c.5242-2588_5242-2587insCTCTCTCTCTCTATATATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(17): Show TATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0027 a0009c0009t0027	a0009c0009t0027g0031 a0009c0009t0027g0031	1	274	0.0037	24	c.524 others(43): Show c.5242-2588_5242-2587insCTCTCTCTCTATATATATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(17): Show TATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0087 a0002c0002t0005g0087	1	274	0.0037	24	c.524 others(43): Show c.5242-2588_5242-2587insCTCTCTCTATATATATATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(17): Show TATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0214 a0001c0001t0029g0214	1	274	0.0037	24	c.524 others(43): Show c.5242-2588_5242-2587insCTCTCTATATATATATATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089694	G G	GAGAGAGA others(17): Show GAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18980.hp2 NA20905.hp1 NA18963.hp1 NA18980.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0243 a0001c0001t0006g0247 a0001c0001t0006g0249 a0001c0001t0001g0243 a0001c0001t0006g0247 a0001c0001t0006g0249	3	274	0.0110	24	c.524 others(43): Show c.5242-2614_5242-2613insGTCTCTCTCTCTCTCTCTCTCTCT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67209033	A A	AAGGGAGA others(17): Show AAGGGAGAGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp2 HG02486.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0044 a0001c0001t0004 a0001c0001t0044	a0001c0001t0004g0252 a0001c0001t0044g0272 a0001c0001t0004g0252 a0001c0001t0044g0272	2	274	0.0073	24	c.248 others(41): Show c.248-5591_248-5590insCCCTCCCTCCCTCCCTCTCTCCCT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	5/32			chr17	TogoVar
HEPHL1_chr11_94016354_94119208	94078446	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	368	0.0027	24	c.171 others(43): Show c.1716+3068_1716+3091dupATATATATATATATATATATATAT	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94093971	G G	GATAGATA others(17): Show GATAGATAGATAGATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18959.hp2 HG02015.hp2 NA18959.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0033 a0001c0006t0006g0038 a0001c0006t0006g0033 a0001c0006t0006g0038	2	368	0.0054	24	c.243 others(41): Show c.2434+334_2434+335insGATAGATAGATATATATATATATA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94093971	G G	GATAGATA others(17): Show GATAGATAGATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0355 a0004c0004t0001g0356 a0004c0004t0001g0355 a0004c0004t0001g0356	2	368	0.0054	24	c.243 others(41): Show c.2434+334_2434+335insGATAGATATATATATATATATATA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94093971	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01952.hp1 HG02027.hp2 others(9): Show HG01074.hp1 HG01952.hp1 HG02027.hp2 HG02683.hp1 HG02896.hp2 HG03017.hp1 HG03098.hp1 HG04199.hp1 NA18955.hp2 NA18968.hp2 NA19005.hp1 NA20905.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0009 a0001c0001 a0002c0002 a0006c0009	a0001c0001t0001 a0002c0002t0001 a0006c0009t0012 a0001c0001t0001 a0002c0002t0001 a0006c0009t0012	a0001c0001t0001g0145 a0001c0001t0001g0166 a0001c0001t0001g0178 others(9): Show a0001c0001t0001g0145 a0001c0001t0001g0166 a0001c0001t0001g0178 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0292 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0321 a0002c0002t0001g0020 a0006c0009t0012g0068	12	368	0.0326	24	c.243 others(41): Show c.2434+351_2434+374dupTATATATATATATATATATATATA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94094013	T T	TATATATA others(17): Show TATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0242 a0001c0001t0001g0243	2	368	0.0054	24	c.243 others(41): Show c.2434+374_2434+375insTATATATATATATATATATATAAA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94115572	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0295	1	368	0.0027	24	c.36 others(35): Show c.3678_*3679insATATATATATATATATATATATAT	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding		1365		chr11	TogoVar
HERC1_chr15_63603618_63838948	63720103	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02055.hp1 HG02145.hp1 others(8): Show HG01934.hp2 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG03139.hp2 HG03688.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0001c0020	a0001c0001t0001 a0001c0004t0003 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0004t0003 a0001c0006t0001 a0001c0020t0001	a0001c0001t0001g0115 a0001c0001t0001g0163 a0001c0001t0001g0165 others(8): Show a0001c0001t0001g0115 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0188 a0001c0004t0003g0130 a0001c0004t0003g0140 a0001c0004t0003g0141 a0001c0004t0003g0176 a0001c0004t0003g0179 a0001c0006t0001g0137 a0001c0020t0001g0119	11	216	0.0509	24	c.374 others(43): Show c.3743-1207_3743-1206insAAAAAAAAAAAAAAAAAAAAAAAA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	19/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63737547	A A	ATATATAT others(17): Show ATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0088 a0005c0009t0001g0088	1	216	0.0046	24	c.252 others(43): Show c.2521-2699_2521-2698insGATATATATATATATATATATATA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	12/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63744164	G G	GTGTGTGT others(17): Show GTGTGTGTGTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0006 a0006	a0006c0037 a0006c0037	a0006c0037t0001 a0006c0037t0001	a0006c0037t0001g0100 a0006c0037t0001g0100	1	216	0.0046	24	c.252 others(43): Show c.2520+2753_2520+2754insGAGAGAGAGAGAGAGACACACACA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	12/77			chr15	TogoVar
HERC3_chr4_88587480_88713539	88699338	C C	CCCCACCC others(17): Show CCCCACCCTCTTCTTCCCCACCCTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	296	0.0034	24	c.265 others(43): Show c.2658-4753_2658-4730dupCTCTTCTTCCCCACCCTGCCCACC	HERC3	ENSG00000138641.18	transcript	ENST00000402738.6	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC4_chr10_67916905_68080283	68059633	A A	AATATTAT others(17): Show AATATTATATATTATATTATATATC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0007 a0001c0002t0002g0005 a0001c0002t0002g0007	2	360	0.0056	24	c.226 others(43): Show c.226+13226_226+13249dupGATATATAATATAATATATAATAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059703	T T	TATATCAT others(17): Show TATATCATAATATTATATATTATAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG01346.hp2 others(2): Show HG00140.hp1 HG00735.hp1 HG01346.hp2 HG02698.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0295 a0001c0001t0001g0303 a0001c0001t0001g0304 others(2): Show a0001c0001t0001g0295 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0009t0001g0306	5	360	0.0139	24	c.226 others(43): Show c.226+13179_226+13180insTTATAATATATAATATTATGATAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059796	A A	ATTATATA others(17): Show ATTATATATTATAATATTATATATC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0329 a0001c0002t0005g0329	1	360	0.0028	24	c.226 others(43): Show c.226+13086_226+13087insGATATATAATATTATAATATATAA	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC5_chr4_88452119_88511163	88475537	A A	ACGATCTC others(17): Show ACGATCTCCTGACCTTGTGATCTGC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0217 a0002c0002t0001g0217	1	330	0.0030	24	c.139 others(41): Show c.1393-302_1393-279dupGATCTCCTGACCTTGTGATCTGCC	HERC5	ENSG00000138646.9	transcript	ENST00000264350.8	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr4	TogoVar

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