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
HFM1_chr1_91255766_91409837	91264361	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG00642.hp2 others(17): Show HG00609.hp1 HG00639.hp2 HG00642.hp2 HG01496.hp2 HG01891.hp1 HG01928.hp2 HG01981.hp2 HG02257.hp2 HG02559.hp2 HG03139.hp2 HG03195.hp1 NA18970.hp2 NA18980.hp2 NA18986.hp2 NA19006.hp1 NA19007.hp2 NA19066.hp2 NA19075.hp1 NA19085.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0003 a0001c0001 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0007t0001 a0002c0003t0001 a0001c0001t0001 a0001c0007t0001 a0002c0003t0001	a0001c0001t0001g0056 a0001c0001t0001g0135 a0001c0001t0001g0194 others(17): Show a0001c0001t0001g0056 a0001c0001t0001g0135 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0007t0001g0187 a0002c0003t0001g0325 a0002c0003t0001g0326	20	362	0.0553	18	c.397 others(37): Show c.3974+1638_3974+1655dupAAAAAAAAAAAAAAAAAA	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding	36/38			chr1	TogoVar
HGD_chr3_120623172_120687239	120624712	G G	GGAGAGAG others(11): Show GGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00673.hp2 others(65): Show HG00140.hp1 HG00558.hp2 HG00673.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp2 HG02074.hp1 HG02083.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02523.hp1 HG02922.hp2 HG02965.hp1 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03540.hp1 HG03669.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18952.hp2 NA18956.hp2 NA18957.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18970.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18990.hp1 NA19005.hp2 NA19009.hp2 NA19012.hp2 NA19055.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0010	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0002c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 others(60): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0064 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0094 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0337 a0001c0001t0001g0346 a0001c0003t0001g0058 a0001c0003t0001g0122 a0001c0003t0001g0177 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0176 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0270 a0002c0002t0001g0275 a0002c0002t0001g0280 a0002c0002t0001g0292 a0002c0002t0001g0295 a0002c0002t0001g0297 a0002c0002t0001g0300 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0327 a0002c0002t0001g0340 a0002c0010t0001g0315	68	374	0.1818	18	c.36 others(29): Show c.3667_*3668insTCTCTCTCTCTCTCTCTC	HGD	ENSG00000113924.12	transcript	ENST00000283871.10	protein_coding		3459		chr3	TogoVar
HGD_chr3_120623172_120687239	120630798	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp2 HG02886.hp1 others(9): Show HG02451.hp2 HG02486.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG03139.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp2 NA18994.hp2 NA19030.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0052 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0052 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0117 a0001c0001t0001g0244 a0001c0001t0001g0245	12	374	0.0321	18	c.118 others(37): Show c.1189-2287_1189-2270dupTATATATATATATATATA	HGD	ENSG00000113924.12	transcript	ENST00000283871.10	protein_coding	13/13			chr3	TogoVar
HGFAC_chr4_3436968_3454486	3447814	A A	ACCCTCCC others(11): Show ACCCTCCCTCCACCACGGG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0048 a0005c0008t0001g0048	1	454	0.0022	18	c.149 others(33): Show c.1496-77_1496-60dupTCCCTCCACCACGGGCCC	HGFAC	ENSG00000109758.9	transcript	ENST00000382774.8	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
HGF_chr7_81694010_81775047	81697198	T T	TTATATAT others(11): Show TTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG02109.hp1 NA18948.hp2 HG01123.hp1 HG02109.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0001t0002 a0001c0002t0004	a0001c0001t0002g0002 a0001c0001t0002g0118 a0001c0002t0004g0010 a0001c0001t0002g0002 a0001c0001t0002g0118 a0001c0002t0004g0010	3	272	0.0110	18	c.53 others(29): Show c.5382_*5383insTATATATATATATATATA	HGF	ENSG00000019991.18	transcript	ENST00000222390.11	protein_coding		1811		chr7	TogoVar
HGF_chr7_81694010_81775047	81722845	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG03209.hp2 HG01884.hp1 HG02109.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0009 a0001c0002t0004 a0001c0001t0004 a0001c0001t0009 a0001c0002t0004	a0001c0001t0004g0132 a0001c0001t0009g0131 a0001c0002t0004g0010 a0001c0001t0004g0132 a0001c0001t0009g0131 a0001c0002t0004g0010	3	272	0.0110	18	c.116 others(37): Show c.1169-1999_1169-1998insTATATATATATATATATA	HGF	ENSG00000019991.18	transcript	ENST00000222390.11	protein_coding	9/17			chr7	TogoVar
HGSNAT_chr8_43135464_43207855	43181082	G G	GGAGGGAG others(11): Show GGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0220 a0003c0003t0010g0220	1	234	0.0043	18	c.101 others(35): Show c.1013-927_1013-910dupGGAGAGGGAGAGGGAGAG	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HGSNAT_chr8_43135464_43207855	43195656	G G	GGAGGAGG others(11): Show GGAGGAGGAGGAGGGAGTA	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19043.hp1 HG02886.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0168 a0001c0001t0008g0169 a0001c0001t0008g0168 a0001c0001t0008g0169	2	234	0.0086	18	c.146 others(37): Show c.1465-1278_1465-1277insAGTAGAGGAGGAGGAGGG	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HHAT_chr1_210323902_210681290	210326926	C C	CATATATA others(11): Show CATATATATACATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	268	0.0037	18	c.-22 others(29): Show c.-2222_-2221insATATATATACATATATAT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		1975		chr1	TogoVar
HHAT_chr1_210323902_210681290	210326958	T T	TACACACA others(11): Show TACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0127 a0001c0002t0004g0127	1	268	0.0037	18	c.-21 others(29): Show c.-2190_-2189insACACACACACACACACAC	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		1943		chr1	TogoVar
HHAT_chr1_210323902_210681290	210326958	T T	TATACACA others(11): Show TATACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	268	0.0037	18	c.-21 others(29): Show c.-2190_-2189insATACACACACACACACAC	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		1943		chr1	TogoVar
HHAT_chr1_210323902_210681290	210326958	T T	TATATATA others(11): Show TATATATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0004	a0003c0007t0004g0133 a0003c0007t0004g0133	1	268	0.0037	18	c.-21 others(29): Show c.-2190_-2189insATATATATACACACACAC	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		1943		chr1	TogoVar
HHAT_chr1_210323902_210681290	210326958	T T	TATATATA others(11): Show TATATATATATATACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0179 a0001c0001t0005g0179	1	268	0.0037	18	c.-21 others(29): Show c.-2190_-2189insATATATATATATACACAC	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		1943		chr1	TogoVar
HHAT_chr1_210323902_210681290	210326958	T T	TATATATA others(11): Show TATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG06807.hp1 NA18906.hp2 HG02145.hp1 HG06807.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0006 a0001c0001t0018 a0003c0007t0002 a0001c0001t0006 a0001c0001t0018 a0003c0007t0002	a0001c0001t0006g0193 a0001c0001t0018g0164 a0003c0007t0002g0169 a0001c0001t0006g0193 a0001c0001t0018g0164 a0003c0007t0002g0169	3	268	0.0112	18	c.-21 others(29): Show c.-2190_-2189insATATATATATATATACAC	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		1943		chr1	TogoVar
HHAT_chr1_210323902_210681290	210326958	T T	TATATATA others(11): Show TATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02451.hp1 HG02970.hp2 others(5): Show HG01109.hp1 HG02451.hp1 HG02970.hp2 HG03017.hp1 NA18974.hp1 NA18985.hp1 NA18991.hp1 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0004 a0002c0003t0002	a0001c0001t0001g0200 a0001c0001t0001g0221 a0001c0001t0001g0223 others(5): Show a0001c0001t0001g0200 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0003g0206 a0001c0001t0003g0217 a0001c0002t0002g0011 a0001c0002t0004g0192 a0002c0003t0002g0216	8	268	0.0299	18	c.-21 others(29): Show c.-2190_-2189insATATATATATATATATAC	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		1943		chr1	TogoVar
HHAT_chr1_210323902_210681290	210334178	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	268	0.0037	18	c.-44 others(35): Show c.-44+5077_-44+5094dupTTTTTTTTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210336287	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01257.hp1 HG01516.hp2 others(8): Show HG00738.hp1 HG01257.hp1 HG01516.hp2 HG02602.hp1 HG04204.hp2 NA18939.hp2 NA18977.hp2 NA18989.hp2 NA19065.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0002c0003t0002 a0002c0003t0004 a0003c0004t0001 a0003c0004t0004	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0111 others(8): Show a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0111 a0001c0001t0002g0107 a0001c0001t0003g0091 a0001c0001t0004g0092 a0001c0001t0006g0108 a0002c0003t0002g0109 a0002c0003t0004g0119 a0003c0004t0001g0110 a0003c0004t0004g0139	11	268	0.0410	18	c.-44 others(35): Show c.-44+7189_-44+7206dupTTTTTTTTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210386230	C C	CTTTCTTT others(11): Show CTTTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01433.hp1 HG02922.hp2 others(3): Show HG01081.hp1 HG01433.hp1 HG02922.hp2 NA18939.hp1 NA18969.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015	a0001c0001t0001g0117 a0001c0001t0001g0204 a0001c0001t0003g0244 others(3): Show a0001c0001t0001g0117 a0001c0001t0001g0204 a0001c0001t0003g0244 a0001c0001t0003g0254 a0001c0001t0004g0171 a0001c0001t0015g0176	6	268	0.0224	18	c.160 others(35): Show c.160-1235_160-1234insCTTTTTTTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210494542	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA19080.hp1 HG01975.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0112 a0001c0001t0003g0181 a0001c0001t0002g0112 a0001c0001t0003g0181	2	268	0.0075	18	c.100 others(39): Show c.1008-18601_1008-18584dupTTTTTTTTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210535431	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	268	0.0037	18	c.104 others(39): Show c.1043+22250_1043+22267dupTGTGTGTGTGTGTGTGTG	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210569373	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02071.hp2 HG02109.hp2 others(6): Show HG01071.hp2 HG02071.hp2 HG02109.hp2 HG02970.hp2 HG03041.hp2 HG03834.hp2 HG04184.hp1 NA18955.hp1 NA19012.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0002t0003 a0002c0003t0003 a0003c0004t0003	a0001c0001t0002g0072 a0001c0001t0002g0088 a0001c0001t0003g0206 others(6): Show a0001c0001t0002g0072 a0001c0001t0002g0088 a0001c0001t0003g0206 a0001c0001t0004g0220 a0001c0001t0007g0201 a0001c0002t0001g0047 a0001c0002t0003g0032 a0002c0003t0003g0262 a0003c0004t0003g0135	9	268	0.0336	18	c.104 others(39): Show c.1044-18516_1044-18499dupAAAAAAAAAAAAAAAAAA	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210601937	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02976.hp2 HG03225.hp2 HG01109.hp2 HG02976.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0009g0161 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0009g0161	3	268	0.0112	18	c.124 others(39): Show c.1245+13841_1245+13858dupAGAGAGAGAGAGAGAGAG	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHIP_chr4_144641156_144750271	144645107	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG01106.hp2 others(11): Show HG00099.hp2 HG00642.hp1 HG01106.hp2 HG01517.hp1 HG01934.hp1 HG02056.hp1 HG02074.hp1 HG02523.hp1 HG02735.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA19083.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032	a0001c0001t0003g0152 a0001c0001t0003g0155 a0001c0001t0003g0156 others(11): Show a0001c0001t0003g0152 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0167 a0001c0001t0003g0169 a0001c0001t0003g0197 a0001c0001t0005g0193 a0001c0001t0005g0224 a0001c0001t0008g0183 a0001c0001t0008g0184 a0001c0001t0008g0225 a0001c0001t0030g0159 a0001c0001t0031g0165 a0001c0001t0032g0217	14	316	0.0443	18	c.-15 others(29): Show c.-1569_-1568insGTGTGTGTGTGTGTGTGT	HHIP	ENSG00000164161.10	transcript	ENST00000296575.8	protein_coding		1048		chr4	TogoVar
HHLA1_chr8_132056480_132116157	132070011	C C	CGGGGGGG others(11): Show CGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02809.hp2 HG02922.hp2 others(3): Show HG01934.hp1 HG02809.hp2 HG02922.hp2 HG03041.hp1 HG03486.hp1 NA18975.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0003 a0003c0002 others(1): Show a0001c0001 a0002c0003 a0003c0002 a0004c0006	a0001c0001t0001 a0001c0001t0013 a0002c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0013 a0002c0003t0001 a0002c0003t0002 a0003c0002t0001 a0004c0006t0001	a0001c0001t0001g0117 a0001c0001t0013g0240 a0002c0003t0001g0316 others(3): Show a0001c0001t0001g0117 a0001c0001t0013g0240 a0002c0003t0001g0316 a0002c0003t0002g0326 a0003c0002t0001g0245 a0004c0006t0001g0292	6	380	0.0158	18	c.146 others(37): Show c.1469+1328_1469+1329insCCCCCCCCCCCCCCCCCC	HHLA1	ENSG00000132297.13	transcript	ENST00000414222.2	protein_coding	15/16			chr8	TogoVar
HHLA2_chr3_108291548_108383285	108321091	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0211 a0002c0003t0010g0211	1	322	0.0031	18	c.-27 others(37): Show c.-27+10354_-27+10371dupAAAAAAAAAAAAAAAAAA	HHLA2	ENSG00000114455.15	transcript	ENST00000467761.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
HHLA2_chr3_108291548_108383285	108340908	T T	TTTTTCCT others(11): Show TTTTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03471.hp1 HG03579.hp2 HG02895.hp2 HG03471.hp1 HG03579.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0010 a0003c0004t0010 a0002c0003t0010 a0003c0004t0010	a0002c0003t0010g0212 a0003c0004t0010g0222 a0003c0004t0010g0223 a0002c0003t0010g0212 a0003c0004t0010g0222 a0003c0004t0010g0223	3	322	0.0093	18	c.-26 others(37): Show c.-26-10878_-26-10877insTTCCTTCCTTCCTTCCTT	HHLA2	ENSG00000114455.15	transcript	ENST00000467761.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
HIBADH_chr7_27520442_27667883	27527917	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03453.hp2 HG01255.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0144 a0001c0001t0001g0030 a0001c0001t0001g0144	2	326	0.0061	18	c.853 others(35): Show c.853-1546_853-1545insAAAAAAAAAAAAAAAAAA	HIBADH	ENSG00000106049.9	transcript	ENST00000265395.7	protein_coding	7/7			chr7	TogoVar
HIBADH_chr7_27520442_27667883	27527942	T T	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	326	0.0031	18	c.853 others(35): Show c.853-1571_853-1570insTAAAAAAAAAAAAAAAAA	HIBADH	ENSG00000106049.9	transcript	ENST00000265395.7	protein_coding	7/7			chr7	TogoVar
HIBADH_chr7_27520442_27667883	27645376	T T	TTTGTTTT others(11): Show TTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19240.hp2 HG02258.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0009 a0001c0001t0001g0010	2	326	0.0061	18	c.252 others(35): Show c.252+4096_252+4097insCAAAACAAAACAAAACAA	HIBADH	ENSG00000106049.9	transcript	ENST00000265395.7	protein_coding	2/7			chr7	TogoVar
HIBADH_chr7_27520442_27667883	27645382	T T	TTTGTTTG others(11): Show TTTGTTTGTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp2 HG03516.hp1 HG02717.hp2 HG02723.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0008 a0001c0001t0001g0226 a0001c0001t0001g0227	3	326	0.0092	18	c.252 others(35): Show c.252+4090_252+4091insCAAAAACAAAACAAACAA	HIBADH	ENSG00000106049.9	transcript	ENST00000265395.7	protein_coding	2/7			chr7	TogoVar
HIBCH_chr2_190198920_190324826	190259319	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA18943.hp2 NA18997.hp1 HG00733.hp2 NA18943.hp2 NA18997.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0002c0002t0005 a0001c0001t0004 a0002c0002t0002 a0002c0002t0005	a0001c0001t0004g0344 a0002c0002t0002g0271 a0002c0002t0005g0274 a0001c0001t0004g0344 a0002c0002t0002g0271 a0002c0002t0005g0274	3	368	0.0082	18	c.517 others(35): Show c.517+1819_517+1836dupCACACACACACACACACA	HIBCH	ENSG00000198130.16	transcript	ENST00000359678.10	protein_coding	7/13			chr2	TogoVar
HIBCH_chr2_190198920_190324826	190287058	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG06807.hp2 NA20300.hp2 HG03225.hp2 HG06807.hp2 NA20300.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0005 a0003c0003t0003 a0003c0003t0005	a0003c0003t0003g0048 a0003c0003t0005g0185 a0003c0003t0005g0190 a0003c0003t0003g0048 a0003c0003t0005g0185 a0003c0003t0005g0190	3	368	0.0082	18	c.438 others(33): Show c.438+527_438+528insTACACACACACACACACA	HIBCH	ENSG00000198130.16	transcript	ENST00000359678.10	protein_coding	6/13			chr2	TogoVar
HIC1_chr17_2050103_2068241	2066652	T T	TACACACA others(11): Show TACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 NA18948.hp1 NA19079.hp2 others(1): Show HG03491.hp2 NA18948.hp1 NA19079.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0001t0001 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0005 a0001c0001t0007g0003 a0001c0002t0001g0001 a0001c0001t0001g0005 a0001c0001t0007g0003 a0001c0002t0001g0001	4	414	0.0097	18	c.78 others(29): Show c.7817_*7818insACACACACACACACACAC	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		3412		chr17	TogoVar
HIF1AN_chr10_100530943_100564998	100563333	C C	CTCTGTGT others(11): Show CTCTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG03471.hp1 HG02258.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0075 a0001c0001t0014 a0001c0001t0075	a0001c0001t0014g0009 a0001c0001t0075g0078 a0001c0001t0014g0009 a0001c0001t0075g0078	2	320	0.0063	18	c.15 others(31): Show c.15196_*15197insTCTGTGTGTGTGTGTGTG	HIF1AN	ENSG00000166135.14	transcript	ENST00000299163.7	protein_coding		3336		chr10	TogoVar
HIF1AN_chr10_100530943_100564998	100563333	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01884.hp1 HG02109.hp1 others(2): Show HG00642.hp2 HG01884.hp1 HG02109.hp1 HG03486.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0047 a0002c0002t0001 a0001c0001t0001 a0001c0001t0047 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0047g0001 a0002c0002t0001g0001 a0001c0001t0001g0001 a0001c0001t0047g0001 a0002c0002t0001g0001	5	320	0.0156	18	c.15 others(31): Show c.15196_*15197insTGTGTGTGTGTGTGTGTG	HIF1AN	ENSG00000166135.14	transcript	ENST00000299163.7	protein_coding		3336		chr10	TogoVar
HIF1A_chr14_61690513_61753258	61724349	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00741.hp2 HG02280.hp2 others(12): Show HG00558.hp1 HG00741.hp2 HG02280.hp2 HG02809.hp2 HG03239.hp1 HG04115.hp1 HG04199.hp1 NA18957.hp1 NA18982.hp1 NA18986.hp1 NA19007.hp2 NA19010.hp2 NA19043.hp1 NA19084.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0020 a0001c0001t0001g0143 a0001c0001t0001g0148 others(11): Show a0001c0001t0001g0020 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0003t0002g0072	15	322	0.0466	18	c.458 others(35): Show c.458-2342_458-2325dupTCTCTCTCTCTCTCTCTC	HIF1A	ENSG00000100644.17	transcript	ENST00000337138.9	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
HIF1A_chr14_61690513_61753258	61724380	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0281 a0001c0003t0002g0281	1	322	0.0031	18	c.458 others(35): Show c.458-2325_458-2324insTCTCTCTCTCTCTCTCCC	HIF1A	ENSG00000100644.17	transcript	ENST00000337138.9	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
HIF1A_chr14_61690513_61753258	61749334	T T	TTTGTAAA others(11): Show TTTGTAAAAGCAGATTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0126	1	322	0.0031	18	c.22 others(29): Show c.2249_*2250insTTGTAAAAGCAGATTATG	HIF1A	ENSG00000100644.17	transcript	ENST00000337138.9	protein_coding		1077		chr14	TogoVar
HIF1A_chr14_61690513_61753258	61750147	T T	TGAGGGAA others(11): Show TGAGGGAATGTCCTAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	322	0.0031	18	c.30 others(29): Show c.3062_*3063insGAGGGAATGTCCTAAGAG	HIF1A	ENSG00000100644.17	transcript	ENST00000337138.9	protein_coding		1890		chr14	TogoVar
HIF3A_chr19_46292042_46348433	46296148	A A	AACACACA others(11): Show AACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02647.hp1 HG03471.hp1 others(1): Show HG01433.hp2 HG02647.hp1 HG03471.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0044 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0044 a0001c0006t0001 a0001c0006t0004	a0001c0001t0001g0368 a0001c0001t0044g0362 a0001c0006t0001g0392 others(1): Show a0001c0001t0001g0368 a0001c0001t0044g0362 a0001c0006t0001g0392 a0001c0006t0004g0157	4	418	0.0096	18	c.-92 others(27): Show c.-929_-928insACACACACACACACACAC	HIF3A	ENSG00000124440.16	transcript	ENST00000377670.9	protein_coding		893		chr19	TogoVar
HIGD1C_chr12_50947544_50975607	50948894	A A	AGGGGAGG others(11): Show AGGGGAGGGGGAGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA19090.hp2 NA18947.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0005 a0001c0001t0001g0006	2	380	0.0053	18	c.-38 others(29): Show c.-3885_-3884insGGGGAGGGGGAGGGGGAG	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3649		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50957937	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02258.hp1 HG00733.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0152 a0001c0001t0003g0075 a0001c0001t0001g0152 a0001c0001t0003g0075	2	380	0.0053	18	c.95- others(33): Show c.95-3000_95-2983dupGTGTGTGTGTGTGTGTGT	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50970299	C C	CAATTATT others(11): Show CAATTATTTTTATTTTTTA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0127 a0001c0002t0002g0127	1	380	0.0026	18	c.230 others(33): Show c.230-141_230-140insTTATTTTTATTTTTTAAA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
HIGD2B_chr15_72670798_72691182	72687124	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(125): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01516.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18945.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp2 NA18980.hp1 NA18983.hp1 NA18987.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19010.hp2 NA19012.hp2 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19062.hp1 NA19066.hp2 NA19068.hp1 NA19072.hp1 NA19075.hp2 NA19083.hp1 NA19089.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 others(49): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0014 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0004g0045 a0001c0001t0004g0123 a0001c0001t0005g0051 a0001c0001t0007g0134 a0002c0002t0001g0025 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0072 a0002c0002t0001g0105 a0002c0002t0001g0117	128	436	0.2936	18	c.-15 others(29): Show c.-1500_-1499insAAAAAAAAAAAAAAAAAA	HIGD2B	ENSG00000175202.6	transcript	ENST00000311755.6	protein_coding		943		chr15	TogoVar
HIGD2B_chr15_72670798_72691182	72688411	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01070.hp1 HG01123.hp1 others(16): Show HG00642.hp2 HG01070.hp1 HG01123.hp1 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG02300.hp1 HG02559.hp1 HG03688.hp2 NA18522.hp1 NA18906.hp1 NA18947.hp2 NA18959.hp1 NA18964.hp2 NA18972.hp1 NA18983.hp2 NA19043.hp2 NA19058.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0092 a0001c0001t0001g0102	19	436	0.0436	18	c.-28 others(29): Show c.-2804_-2787dupAAAAAAAAAAAAAAAAAA	HIGD2B	ENSG00000175202.6	transcript	ENST00000311755.6	protein_coding		2230		chr15	TogoVar
HIKESHI_chr11_86297240_86350943	86308150	G G	GTATAAAA others(11): Show GTATAAAATATATATTACA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	398	0.0025	18	c.268 others(35): Show c.268+1703_268+1720dupCATATAAAATATATATTA	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIKESHI_chr11_86297240_86350943	86318303	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01099.hp2 HG02615.hp2 others(1): Show HG00280.hp2 HG01099.hp2 HG02615.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0090 a0001c0001t0001g0267 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0090 a0001c0001t0001g0267 a0001c0001t0001g0373	4	398	0.0101	18	c.268 others(37): Show c.268+11824_268+11841dupAAAAAAAAAAAAAAAAAA	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HINFP_chr11_119116580_119141059	119129490	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	404	0.0025	18	c.182 others(35): Show c.182-1220_182-1219insTTTTTTTTTTTTTTTTTT	HINFP	ENSG00000172273.13	transcript	ENST00000350777.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIP1_chr7_75528298_75743941	75595283	C C	CCTTCCTT others(11): Show CCTTCCTTTCTTTTTCTCT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	254	0.0039	18	c.185 others(35): Show c.185-2770_185-2769insAGAGAAAAAGAAAGGAAG	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	2/30			chr7	TogoVar
HIP1_chr7_75528298_75743941	75595283	C C	CCTTTCTT others(11): Show CCTTTCTTTCTTTTTCTCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01192.hp2 HG01261.hp2 others(19): Show HG01099.hp2 HG01192.hp2 HG01261.hp2 HG01891.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG02109.hp2 HG02486.hp2 HG02572.hp1 HG02965.hp2 HG03195.hp2 HG03471.hp2 HG03490.hp1 HG03516.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp2 NA18954.hp1 NA19043.hp1 NA20752.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0011 others(2): Show a0001c0001 a0001c0002 a0001c0011 a0001c0013 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0002t0001 a0001c0002t0008 a0001c0011t0021 a0001c0013t0004 a0003c0006t0004	a0001c0001t0001g0009 a0001c0001t0001g0149 a0001c0001t0002g0035 others(19): Show a0001c0001t0001g0009 a0001c0001t0001g0149 a0001c0001t0002g0035 a0001c0001t0002g0050 a0001c0001t0003g0026 a0001c0001t0005g0170 a0001c0001t0005g0236 a0001c0001t0006g0094 a0001c0001t0010g0153 a0001c0001t0010g0154 a0001c0001t0012g0045 a0001c0001t0012g0228 a0001c0001t0013g0018 a0001c0001t0017g0069 a0001c0001t0024g0254 a0001c0001t0025g0166 a0001c0001t0028g0092 a0001c0002t0001g0208 a0001c0002t0008g0073 a0001c0011t0021g0227 a0001c0013t0004g0089 a0003c0006t0004g0017	22	254	0.0866	18	c.185 others(35): Show c.185-2770_185-2769insAGAGAAAAAGAAAGAAAG	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	2/30			chr7	TogoVar

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