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
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(23): Show CACACACACACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0038 a0009c0016t0038	a0009c0016t0038g0219 a0009c0016t0038g0219	1	362	0.0028	30	c.373 others(49): Show c.3733+2834_3733+2835insATATATATATATATATATGTGTGTGT GTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HELB_chr12_66297493_66343199	66327064	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18971.hp1 NA19006.hp1 others(1): Show HG01496.hp2 NA18971.hp1 NA19006.hp1 NA19057.hp1	a0002 a0005 a0002 a0005	a0002c0001 a0005c0006 a0002c0001 a0005c0006	a0002c0001t0002 a0005c0006t0002 a0002c0001t0002 a0005c0006t0002	a0002c0001t0002g0038 a0002c0001t0002g0208 a0005c0006t0002g0268 a0002c0001t0002g0038 a0002c0001t0002g0208 a0005c0006t0002g0268	4	390	0.0103	30	c.267 others(49): Show c.2670+1939_2670+1940insTATATATATATATATATATATATATA TATA	HELB	ENSG00000127311.10	transcript	ENST00000247815.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
HELB_chr12_66297493_66343199	66327066	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18953.hp2 NA18963.hp2 NA18942.hp1 NA18953.hp2 NA18963.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0202 a0002c0001t0002g0204 a0002c0001t0002g0205 a0002c0001t0002g0202 a0002c0001t0002g0204 a0002c0001t0002g0205	3	390	0.0077	30	c.267 others(49): Show c.2670+1956_2670+1957insATATATATATATATATATATATATAT ATAT	HELB	ENSG00000127311.10	transcript	ENST00000247815.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
HELLS_chr10_94540788_94607099	94561883	A A	AGTATTCC others(23): Show AGTATTCCTTCAATACCCTACCTATTGAAGG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	358	0.0028	30	c.334 others(45): Show c.334-808_334-807insGTATTCCTTCAATACCCTACCTATTGAAGG	HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding	4/21			chr10	TogoVar
HELZ_chr17_67065444_67250196	67086625	A A	AATATATA others(23): Show AATATATATATATATAAAAATAAATATAAAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0028 a0005c0007t0028	a0005c0007t0028g0090 a0005c0007t0028g0090	1	274	0.0037	30	c.549 others(47): Show c.5494+203_5494+204insATTTATATTTATTTTTATATATATATAT AT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	32/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATAGAGA others(23): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	274	0.0037	30	c.524 others(49): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTCTCTCTCTCT CTAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(23): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0055 a0002c0002t0003g0055	1	274	0.0037	30	c.524 others(49): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTCTCTCTCTAT ATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(23): Show TATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02572.hp2 HG03831.hp1 HG01099.hp2 HG02572.hp2 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0002c0002t0005 a0001c0001t0001 a0002c0002t0003 a0002c0002t0005	a0001c0001t0001g0190 a0002c0002t0003g0045 a0002c0002t0005g0077 a0001c0001t0001g0190 a0002c0002t0003g0045 a0002c0002t0005g0077	3	274	0.0110	30	c.524 others(49): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTCTCTCTATAT ATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(23): Show TATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19068.hp2 NA20752.hp1 HG02258.hp2 NA19068.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0060 a0002c0002t0005 a0001c0001t0001 a0001c0001t0060 a0002c0002t0005	a0001c0001t0001g0173 a0001c0001t0060g0228 a0002c0002t0005g0073 a0001c0001t0001g0173 a0001c0001t0060g0228 a0002c0002t0005g0073	3	274	0.0110	30	c.524 others(49): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTCTATATATAT ATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(23): Show TATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0050 a0002c0002t0050	a0002c0002t0050g0044 a0002c0002t0050g0044	1	274	0.0037	30	c.524 others(49): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTATATATATAT ATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(23): Show TATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp1 HG01884.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0020 a0002c0002t0003 a0002c0002t0020	a0002c0002t0003g0023 a0002c0002t0020g0079 a0002c0002t0003g0023 a0002c0002t0020g0079	2	274	0.0073	30	c.524 others(49): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTATATATATATAT ATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(23): Show TATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	274	0.0037	30	c.524 others(49): Show c.5242-2588_5242-2587insCTCTCTCTATATATATATATATATAT ATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HEPHL1_chr11_94016354_94119208	94093971	G G	GATAGATA others(23): Show GATAGATAGATAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18997.hp2 HG03453.hp2 NA18997.hp2	a0001 a0020 a0001 a0020	a0001c0001 a0020c0022 a0001c0001 a0020c0022	a0001c0001t0006 a0020c0022t0015 a0001c0001t0006 a0020c0022t0015	a0001c0001t0006g0032 a0020c0022t0015g0048 a0001c0001t0006g0032 a0020c0022t0015g0048	2	368	0.0054	30	c.243 others(47): Show c.2434+334_2434+335insGATAGATAGATATATATATATATATATA TA	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(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18999.hp1 HG01934.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0001 a0001c0025t0001 a0001c0001t0001 a0001c0025t0001	a0001c0001t0001g0234 a0001c0025t0001g0354 a0001c0001t0001g0234 a0001c0025t0001g0354	2	368	0.0054	30	c.243 others(47): Show c.2434+345_2434+374dupTATATATATATATATATATATATATATA TA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPH_chrX_66159247_66272389	66264254	T T	TATATATA others(23): Show TATATATATATATGTAAAATATATATATTAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18940.hp1 HG02132.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0157 a0001c0001t0001g0168	2	218	0.0092	30	c.324 others(47): Show c.3244+579_3244+608dupGTAAAATATATATATTAAATATATATAT AT	HEPH	ENSG00000089472.18	transcript	ENST00000343002.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
HERC1_chr15_63603618_63838948	63737516	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0078 a0002c0003t0001g0078	1	216	0.0046	30	c.252 others(49): Show c.2521-2697_2521-2668dupATATATATATATATATATATATATAT ATAT	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	12/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63744164	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0006 a0006	a0006c0038 a0006c0038	a0006c0038t0001 a0006c0038t0001	a0006c0038t0001g0099 a0006c0038t0001g0099	1	216	0.0046	30	c.252 others(49): Show c.2520+2753_2520+2754insGAGAGAGAGAGAGACACACACACACA CACA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	12/77			chr15	TogoVar
HERC4_chr10_67916905_68080283	68059459	A A	AATAATAT others(23): Show AATAATATTATATATTATAATATTATATATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG01069.hp1 others(7): Show HG00140.hp1 HG00735.hp1 HG01069.hp1 HG01346.hp2 HG02698.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03704.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0300 others(7): Show a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0009t0001g0306	10	360	0.0278	30	c.226 others(49): Show c.226+13394_226+13423dupAATATATAATATTATAATATATAATA TTAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059618	A A	AATAATAT others(23): Show AATAATATTATATATCATAATATTATATATC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	360	0.0028	30	c.226 others(49): Show c.226+13264_226+13265insGATATATAATATTATGATATATAATA TTAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059618	A A	AATAATAT others(23): Show AATAATATTATATATCATAATATTATATATT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00597.hp1 others(51): Show HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG01074.hp1 HG01123.hp2 HG01257.hp2 HG01346.hp1 HG01433.hp1 HG01928.hp1 HG01934.hp2 HG01993.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02155.hp2 HG02165.hp1 HG02630.hp2 HG03490.hp1 HG03834.hp1 HG04228.hp2 NA18747.hp1 NA18943.hp2 NA18946.hp1 NA18952.hp2 NA18956.hp1 NA18961.hp1 NA18964.hp2 NA18967.hp1 NA18975.hp1 NA18981.hp2 NA18982.hp1 NA18986.hp2 NA18999.hp2 NA19000.hp2 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp2 NA19074.hp1 NA19078.hp2 NA19084.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0006 a0001c0008t0001 a0001c0001t0001 a0001c0001t0006 a0001c0008t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(51): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0175 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0006g0030 a0001c0001t0006g0057 a0001c0001t0006g0062 a0001c0008t0001g0311	54	360	0.1500	30	c.226 others(49): Show c.226+13264_226+13265insAATATATAATATTATGATATATAATA TTAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059630	C C	CATAATAT others(23): Show CATAATATTATATATTATATTATATATCATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp2 HG02896.hp1 others(6): Show HG01109.hp2 HG01496.hp2 HG02896.hp1 HG02897.hp1 HG03942.hp1 NA18957.hp2 NA18960.hp2 NA18969.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0001 a0001c0001t0008 a0001c0001t0009	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 others(6): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0008g0297 a0001c0001t0008g0298 a0001c0001t0009g0294	9	360	0.0250	30	c.226 others(49): Show c.226+13223_226+13252dupTATGATATATAATATAATATATAATA TTAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059657	C C	CATAATAT others(23): Show CATAATATTATATATTATAATATATATCATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0299 a0001c0001t0001g0300	2	360	0.0056	30	c.226 others(49): Show c.226+13225_226+13226insTATGATATATATTATAATATATAATA TTAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059657	C C	CATATTAT others(23): Show CATATTATATATTATAATATTATATATCATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp2 HG03098.hp1 others(3): Show HG02055.hp2 HG02886.hp2 HG03098.hp1 HG03225.hp2 HG03579.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 others(3): Show a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335	6	360	0.0167	30	c.226 others(49): Show c.226+13225_226+13226insTATGATATATAATATTATAATATATA ATAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059669	T T	TATAATAT others(23): Show TATAATATTATATATCATATTATATATTATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 NA18999.hp1 HG01167.hp1 HG01169.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0130 a0001c0004t0001g0079 a0001c0004t0001g0091 a0001c0001t0001g0130 a0001c0004t0001g0079 a0001c0004t0001g0091	3	360	0.0083	30	c.226 others(49): Show c.226+13213_226+13214insTATAATATATAATATGATATATAATA TTAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059721	T T	TATATTAT others(23): Show TATATTATATATCATAATATTATATATTATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp2 HG01070.hp2 others(16): Show HG00323.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01255.hp2 HG01258.hp2 HG01884.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02273.hp2 HG02293.hp2 HG02735.hp2 HG03927.hp1 NA18940.hp2 NA18990.hp1 NA19064.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0011 a0001c0002t0001 a0001c0002t0011	a0001c0002t0001g0195 a0001c0002t0001g0203 a0001c0002t0001g0215 others(16): Show a0001c0002t0001g0195 a0001c0002t0001g0203 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0218 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0268 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0011g0249	19	360	0.0528	30	c.226 others(49): Show c.226+13132_226+13161dupTATAATATATAATATTATGATATATA ATAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059873	A A	AATAATAT others(23): Show AATAATATTATATATCATAATATTATATATT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02818.hp1 HG02895.hp2 others(2): Show HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0005 others(2): Show a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007	5	360	0.0139	30	c.226 others(49): Show c.226+12980_226+13009dupAATATATAATATTATGATATATAATA TTAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059880	T T	TTATATAT others(23): Show TTATATATCATAATATTATATATTATAATAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0002 a0001c0006t0002g0002	1	360	0.0028	30	c.226 others(49): Show c.226+13002_226+13003insTTATTATAATATATAATATTATGATA TATA	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERPUD1_chr16_56927142_56949864	56946719	T T	TCAGAGGA others(23): Show TCAGAGGAAAAAAAAATGCCTGCCCCCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	428	0.0023	30	c.34 others(41): Show c.3429_*3430insCAGAGGAAAAAAAAATGCCTGCCCCCGGGG	HERPUD1	ENSG00000051108.15	transcript	ENST00000439977.7	protein_coding		1856		chr16	TogoVar
HERPUD2_chr7_35627659_35700135	35632127	A A	AAATATAT others(23): Show AAATATATAAATATAATATATAATTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG02486.hp2 HG02572.hp2 others(4): Show HG01433.hp1 HG02486.hp2 HG02572.hp2 HG03139.hp1 HG03579.hp2 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016	a0001c0001t0007g0149 a0001c0001t0007g0183 a0001c0001t0008g0124 others(4): Show a0001c0001t0007g0149 a0001c0001t0007g0183 a0001c0001t0008g0124 a0001c0001t0008g0151 a0001c0001t0008g0168 a0001c0001t0008g0171 a0001c0001t0016g0133	7	392	0.0179	30	c.15 others(41): Show c.1562_*1563insATATATAATTATATATTATATTTATATATT	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding		531		chr7	TogoVar
HERPUD2_chr7_35627659_35700135	35682334	T T	TGTGTAAA others(23): Show TGTGTAAATATAGATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03453.hp1 NA18955.hp1 HG02280.hp2 HG03453.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0283 a0001c0001t0004g0230 a0001c0001t0004g0271 a0001c0001t0002g0283 a0001c0001t0004g0230 a0001c0001t0004g0271	3	392	0.0077	30	c.148 others(47): Show c.148-9057_148-9056insGTGTGTGTGTGTATATATCTATATTTAC AC	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8			chr7	TogoVar
HERPUD2_chr7_35627659_35700135	35682334	T T	TGTGTATA others(23): Show TGTGTATATATAGATATATACACATACACAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	392	0.0026	30	c.148 others(47): Show c.148-9057_148-9056insGTGTGTATGTGTATATATCTATATATAC AC	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8			chr7	TogoVar
HESX1_chr3_57192838_57204978	57197585	A A	AATATATA others(23): Show AATATATATATTGAATTGGTATAAATATGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01255.hp2 others(35): Show HG01167.hp1 HG01169.hp1 HG01255.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG02109.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 NA18522.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0003 a0002c0002t0001g0005	38	336	0.1131	30	c.61 others(39): Show c.611_*612insACCATATTTATACCAATTCAATATATATAT	HESX1	ENSG00000163666.10	transcript	ENST00000295934.8	protein_coding		252		chr3	TogoVar
HEY1_chr8_79759010_79772767	79769371	A A	ATCTTTTT others(23): Show ATCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	460	0.0022	30	c.-17 others(41): Show c.-1709_-1708insAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA	HEY1	ENSG00000164683.19	transcript	ENST00000354724.8	protein_coding		1605		chr8	TogoVar
HFM1_chr1_91255766_91409837	91408716	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	362	0.0028	30	c.-39 others(41): Show c.-3947_-3946insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding		3880		chr1	TogoVar
HGD_chr3_120623172_120687239	120624712	G G	GGAGAGAG others(23): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0256 a0002c0007t0001g0256	1	374	0.0027	30	c.36 others(41): Show c.3667_*3668insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	HGD	ENSG00000113924.12	transcript	ENST00000283871.10	protein_coding		3459		chr3	TogoVar
HGD_chr3_120623172_120687239	120630825	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	374	0.0027	30	c.118 others(49): Show c.1189-2297_1189-2296insGTATATATATATATATATATATATAT ATAT	HGD	ENSG00000113924.12	transcript	ENST00000283871.10	protein_coding	13/13			chr3	TogoVar
HGF_chr7_81694010_81775047	81697198	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 NA19001.hp1 NA19067.hp1 HG03688.hp2 NA19001.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0145 a0001c0001t0002g0151 a0001c0001t0002g0085 a0001c0001t0002g0145 a0001c0001t0002g0151	3	272	0.0110	30	c.53 others(41): Show c.5382_*5383insTATATATATATATATATATATATATATATA	HGF	ENSG00000019991.18	transcript	ENST00000222390.11	protein_coding		1811		chr7	TogoVar
HGF_chr7_81694010_81775047	81697231	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0254 a0001c0002t0002g0254	1	272	0.0037	30	c.53 others(41): Show c.5349_*5350insTTATATATATATATATATATATATATATAT	HGF	ENSG00000019991.18	transcript	ENST00000222390.11	protein_coding		1778		chr7	TogoVar
HGF_chr7_81694010_81775047	81722845	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	272	0.0037	30	c.116 others(49): Show c.1169-1999_1169-1998insTATATATATATATATATATATATATA TATA	HGF	ENSG00000019991.18	transcript	ENST00000222390.11	protein_coding	9/17			chr7	TogoVar
HGSNAT_chr8_43135464_43207855	43181082	G G	GGAGGGAG others(23): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18970.hp1 NA19011.hp2 HG03225.hp2 NA18970.hp1 NA19011.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0004 a0001c0001t0001 a0003c0003t0004	a0001c0001t0001g0180 a0001c0001t0001g0183 a0003c0003t0004g0218 a0001c0001t0001g0180 a0001c0001t0001g0183 a0003c0003t0004g0218	3	234	0.0128	30	c.101 others(47): Show c.1013-939_1013-910dupGGAGAGGGAGAGGGAGAGGGAGAGGGAG AG	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HHAT_chr1_210323902_210681290	210326958	T T	TATATATA others(23): Show TATATATATATATACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0084 a0001c0001t0006g0084	1	268	0.0037	30	c.-21 others(41): Show c.-2190_-2189insATATATATATATACACACACACACACACAC	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		1943		chr1	TogoVar
HHAT_chr1_210323902_210681290	210326958	T T	TATATATA others(23): Show TATATATATATATATACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0141 a0001c0002t0008g0141	1	268	0.0037	30	c.-21 others(41): Show c.-2190_-2189insATATATATATATATACACACACACACACAC	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		1943		chr1	TogoVar
HHAT_chr1_210323902_210681290	210326958	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 NA18983.hp2 HG02040.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0175 a0001c0001t0004g0178 a0001c0001t0001g0175 a0001c0001t0004g0178	2	268	0.0075	30	c.-21 others(41): Show c.-2190_-2189insATATATATATATATATATATATATACACAC	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		1943		chr1	TogoVar
HHAT_chr1_210323902_210681290	210526367	G G	GTTTTGTT others(23): Show GTTTTGTTTTGTTTTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0002 a0008c0010t0002	a0008c0010t0002g0131 a0008c0010t0002g0131	1	268	0.0037	30	c.104 others(51): Show c.1043+13183_1043+13184insGTTTTGTTTTGTTTTTTTTTTTTT TTTTTT	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(23): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01515.hp2 HG02300.hp1 others(1): Show HG00642.hp1 HG01515.hp2 HG02300.hp1 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0003 a0002c0003t0003 a0001c0002t0001 a0001c0002t0003 a0002c0003t0003	a0001c0002t0001g0045 a0001c0002t0003g0215 a0001c0002t0003g0227 others(1): Show a0001c0002t0001g0045 a0001c0002t0003g0215 a0001c0002t0003g0227 a0002c0003t0003g0251	4	268	0.0149	30	c.124 others(51): Show c.1245+13858_1245+13859insAGAGAGAGAGAGAGAGAGAGAGAG AGAGAG	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210653993	G G	GCAGAATA others(23): Show GCAGAATAGTGTGATGGGAATAGTGTGACGG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	268	0.0037	30	c.139 others(51): Show c.1391-20295_1391-20294insCAGAATAGTGTGATGGGAATAGTG TGACGG	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	11/11			chr1	TogoVar
HHIPL1_chr14_99640129_99685569	99666989	C C	CCCCCATG others(23): Show CCCCCATGCAGCCCTCCCTGACTGCACCTGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02895.hp1 HG02896.hp1 others(5): Show HG02257.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 NA18522.hp2	a0002 a0002	a0002c0001 a0002c0004 a0002c0006 a0002c0001 a0002c0004 a0002c0006	a0002c0001t0001 a0002c0004t0019 a0002c0006t0002 others(1): Show a0002c0001t0001 a0002c0004t0019 a0002c0006t0002 a0002c0006t0031	a0002c0001t0001g0001 a0002c0001t0001g0166 a0002c0004t0019g0108 others(3): Show a0002c0001t0001g0001 a0002c0001t0001g0166 a0002c0004t0019g0108 a0002c0006t0002g0082 a0002c0006t0002g0148 a0002c0006t0031g0083	8	374	0.0214	30	c.164 others(49): Show c.1649-1227_1649-1198dupTGCAGCCCTCCCTGACTGCACCTGTC CCCA	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
HHIPL1_chr14_99640129_99685569	99673776	T T	TGGTGCAT others(23): Show TGGTGCATTAAGGGGGGTGGCATGGAGGGGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp1 HG02630.hp1 others(1): Show HG02109.hp1 HG02615.hp1 HG02630.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0004 a0001c0002t0002g0117 a0001c0002t0002g0118	4	374	0.0107	30	c.181 others(49): Show c.1814-1308_1814-1279dupTTAAGGGGGGTGGCATGGAGGGGGGG TGCA	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
HHIPL1_chr14_99640129_99685569	99673793	T T	TGGCATGG others(23): Show TGGCATGGAGGGGGGGTGCACTGAGGGGGGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp1 HG02630.hp2 others(4): Show HG02145.hp1 HG02451.hp1 HG02630.hp2 HG02818.hp2 HG02886.hp1 HG03195.hp2 NA19043.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0018 a0002c0001t0001 a0002c0001t0018	a0002c0001t0001g0305 a0002c0001t0001g0307 a0002c0001t0001g0308 others(4): Show a0002c0001t0001g0305 a0002c0001t0001g0307 a0002c0001t0001g0308 a0002c0001t0001g0309 a0002c0001t0001g0310 a0002c0001t0001g0311 a0002c0001t0018g0306	7	374	0.0187	30	c.181 others(49): Show c.1814-1277_1814-1248dupTGAGGGGGGCGGCATGGAGGGGGGGT GCAC	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
HHLA2_chr3_108291548_108383285	108302548	T T	TAATTCAA others(23): Show TAATTCAAGTTGGGAACACTTCATTTTCCCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp1 HG02615.hp1 others(5): Show HG02145.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02723.hp2 HG02809.hp2 NA19240.hp2 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0001 a0002c0003t0011 a0003c0004t0004 others(1): Show a0002c0003t0001 a0002c0003t0011 a0003c0004t0004 a0003c0004t0007	a0002c0003t0001g0140 a0002c0003t0011g0143 a0002c0003t0011g0144 others(5): Show a0002c0003t0001g0140 a0002c0003t0011g0143 a0002c0003t0011g0144 a0003c0004t0004g0139 a0003c0004t0004g0141 a0003c0004t0004g0142 a0003c0004t0004g0309 a0003c0004t0007g0216	8	322	0.0248	30	c.-11 others(49): Show c.-114+5971_-114+6000dupATTTTCCCCAATTCAAGTTGGGAACA CTTC	HHLA2	ENSG00000114455.15	transcript	ENST00000467761.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar

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