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
HECTD1_chr14_31095117_31212793	31134042	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG06807.hp2 NA18981.hp1 HG01884.hp1 HG06807.hp2 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0083 a0001c0002t0001g0094 a0001c0002t0001g0050 a0001c0002t0001g0083 a0001c0002t0001g0094	3	342	0.0088	22	c.357 others(39): Show c.3579-368_3579-367insTTTTTTTTTTTTTTTTTTTTTT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	22/42			chr14	TogoVar
HECTD4_chr12_112155195_112387431	112323993	C C	CCTTTCCT others(15): Show CCTTTCCTTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	270	0.0037	22	c.178 others(39): Show c.178-4252_178-4251insAAAGAAAGAAAGGAAAGGAAAG	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112324017	C C	CTCTTTCT others(15): Show CTCTTTCTTTCTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	270	0.0037	22	c.178 others(39): Show c.178-4276_178-4275insAAAGAAAAGAAAGAAAGAAAGA	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112335143	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02132.hp1 HG02622.hp1 others(18): Show HG00544.hp1 HG02132.hp1 HG02622.hp1 HG02622.hp2 NA18946.hp1 NA18951.hp1 NA18952.hp1 NA18955.hp2 NA18968.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp1 NA18986.hp2 NA18994.hp1 NA19004.hp1 NA19012.hp1 NA19054.hp1 NA19074.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0002c0005	a0001c0001t0004 a0001c0002t0001 a0001c0009t0016 others(1): Show a0001c0001t0004 a0001c0002t0001 a0001c0009t0016 a0002c0005t0001	a0001c0001t0004g0068 a0001c0002t0001g0196 a0001c0002t0001g0225 others(18): Show a0001c0001t0004g0068 a0001c0002t0001g0196 a0001c0002t0001g0225 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0009t0016g0266 a0002c0005t0001g0231 a0002c0005t0001g0246	21	270	0.0778	22	c.178 others(41): Show c.178-15423_178-15402dupGTGTGTGTGTGTGTGTGTGTGT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112387128	T T	TACACACA others(15): Show TACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 NA19088.hp1 HG02922.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0006 a0001c0001t0012	a0001c0001t0006g0257 a0001c0001t0012g0151 a0001c0001t0006g0257 a0001c0001t0012g0151	2	270	0.0074	22	c.-50 others(33): Show c.-5001_-5000insGTGTGTGTGTGTGTGTGTGTGT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding		4698		chr12	TogoVar
HECW1_chr7_43107647_43571001	43385259	C C	CTCCCCTC others(15): Show CTCCCCTCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01943.hp1 NA19066.hp1 HG01496.hp1 HG01943.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0003 a0002c0005t0001 a0002c0005t0002 a0001c0002t0003 a0002c0005t0001 a0002c0005t0002	a0001c0002t0003g0066 a0002c0005t0001g0153 a0002c0005t0002g0007 a0001c0002t0003g0066 a0002c0005t0001g0153 a0002c0005t0002g0007	3	182	0.0165	22	c.556 others(41): Show c.556-11555_556-11554insTCCCCTCCCCTCCCCTCCCCTT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	6/29			chr7	TogoVar
HECW2_chr2_196189072_196598554	196278131	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 homoSapiens_chm13v2.hp1 HG02723.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0004 a0001c0002t0003 a0001c0003t0004	a0001c0002t0003g0028 a0001c0003t0004g0074 a0001c0002t0003g0028 a0001c0003t0004g0074	2	112	0.0179	22	c.313 others(39): Show c.3135+396_3135+397insATATATATATATATATATATAT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	15/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196278133	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03453.hp2 HG02145.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0005 a0001c0001t0013	a0001c0001t0005g0052 a0001c0001t0013g0063 a0001c0001t0005g0052 a0001c0001t0013g0063	2	112	0.0179	22	c.313 others(39): Show c.3135+394_3135+395insATATATATATATTTTTTTTTTT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	15/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196286387	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0021 a0001c0001t0025g0021	1	112	0.0089	22	c.300 others(41): Show c.3000+6177_3000+6178insATATATATATATATATATATAT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	14/28			chr2	TogoVar
HEG1_chr3_124960710_125060997	124987924	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp2 HG03209.hp1 HG02615.hp1 HG02717.hp2 HG03209.hp1	a0021 a0027 a0035 a0021 a0027 a0035	a0021c0023 a0027c0047 a0035c0066 a0021c0023 a0027c0047 a0035c0066	a0021c0023t0031 a0027c0047t0108 a0035c0066t0068 a0021c0023t0031 a0027c0047t0108 a0035c0066t0068	a0021c0023t0031g0192 a0027c0047t0108g0018 a0035c0066t0068g0010 a0021c0023t0031g0192 a0027c0047t0108g0018 a0035c0066t0068g0010	3	362	0.0083	22	c.373 others(41): Show c.3733+2841_3733+2862dupGTGTGTGTGTGTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(15): Show CACACACACACACACACATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0160 a0001c0001t0044g0160	1	362	0.0028	22	c.373 others(41): Show c.3733+2834_3733+2835insATATATGTGTGTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HELLS_chr10_94540788_94607099	94579464	G G	GAACTACT others(15): Show GAACTACTACTTTTATACTAAAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	358	0.0028	22	c.103 others(41): Show c.1033-1859_1033-1838dupCTACTACTTTTATACTAAATAA	HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
HELT_chr4_185013490_185025953	185023078	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCTCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	454	0.0022	22	c.23 others(33): Show c.2306_*2307insCTCTCTCTCTCTCTCTCTCCCC	HELT	ENSG00000187821.9	transcript	ENST00000515777.6	protein_coding		2126		chr4	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATAGA others(15): Show TATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01081.hp1 HG01934.hp2 others(1): Show HG00597.hp2 HG01081.hp1 HG01934.hp2 NA18980.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0059 a0002c0002t0003 a0001c0001t0001 a0001c0001t0059 a0002c0002t0003	a0001c0001t0001g0182 a0001c0001t0059g0226 a0002c0002t0003g0025 others(1): Show a0001c0001t0001g0182 a0001c0001t0059g0226 a0002c0002t0003g0025 a0002c0002t0003g0034	4	274	0.0146	22	c.524 others(41): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTCTATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(15): Show TATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp1 HG02451.hp2 others(3): Show HG01192.hp2 HG01243.hp1 HG02451.hp2 NA18989.hp1 NA19085.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0021 a0002c0002t0003 a0001c0001t0001 a0001c0001t0021 a0002c0002t0003	a0001c0001t0001g0198 a0001c0001t0001g0222 a0001c0001t0001g0234 others(3): Show a0001c0001t0001g0198 a0001c0001t0001g0222 a0001c0001t0001g0234 a0001c0001t0021g0092 a0001c0001t0021g0093 a0002c0002t0003g0033	6	274	0.0219	22	c.524 others(41): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(15): Show TATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03209.hp1 NA18942.hp1 others(3): Show HG02257.hp1 HG03209.hp1 NA18942.hp1 NA19080.hp2 NA19088.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0010 a0002c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0010 a0002c0002t0003 a0002c0002t0048	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0220 others(3): Show a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0220 a0001c0001t0010g0199 a0002c0002t0003g0022 a0002c0002t0048g0070	6	274	0.0219	22	c.524 others(41): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(15): Show TATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0036 a0002c0002t0003g0036	1	274	0.0037	22	c.524 others(41): Show c.5242-2588_5242-2587insCTCTCTCTCTCTATATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(15): Show TATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02109.hp1 NA19074.hp2 HG01256.hp2 HG02109.hp1 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0001c0001t0010 a0002c0002t0003 a0001c0001t0008 a0001c0001t0010 a0002c0002t0003	a0001c0001t0008g0246 a0001c0001t0010g0201 a0002c0002t0003g0037 a0001c0001t0008g0246 a0001c0001t0010g0201 a0002c0002t0003g0037	3	274	0.0110	22	c.524 others(41): Show c.5242-2588_5242-2587insCTCTCTCTCTATATATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(15): Show TATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0208 a0001c0001t0011g0208	1	274	0.0037	22	c.524 others(41): Show c.5242-2588_5242-2587insCTCTCTCTATATATATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(15): Show TATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18998.hp1 HG00597.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0181 a0001c0001t0011g0189 a0001c0001t0011g0181 a0001c0001t0011g0189	2	274	0.0073	22	c.524 others(41): Show c.5242-2588_5242-2587insCTCTCTATATATATATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(15): Show TATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0026 a0002c0002t0003g0026	1	274	0.0037	22	c.524 others(41): Show c.5242-2588_5242-2587insCTCTATATATATATATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67123815	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA20300.hp1 HG02922.hp2 NA20300.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0022 a0001c0006t0022	a0001c0006t0022g0014 a0001c0006t0022g0015 a0001c0006t0022g0014 a0001c0006t0022g0015	2	274	0.0073	22	c.343 others(39): Show c.3439+126_3439+147dupCACACACACACACACACACACA	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	25/32			chr17	TogoVar
HEMK1_chr3_50564522_50601166	50591663	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03654.hp1 HG04199.hp1 NA19012.hp1 HG03654.hp1 HG04199.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0066 a0001c0002t0125 a0001c0002t0129 a0001c0001t0066 a0001c0002t0125 a0001c0002t0129	a0001c0001t0066g0041 a0001c0002t0125g0010 a0001c0002t0129g0002 a0001c0001t0066g0041 a0001c0002t0125g0010 a0001c0002t0129g0002	3	320	0.0094	22	c.11 others(35): Show c.11259_*11280dupGTGTGTGTGTGTGTGTGTGTGT	HEMK1	ENSG00000114735.10	transcript	ENST00000232854.9	protein_coding	11/11	11281	INFO_REALIGN_3_PRIME	chr3	TogoVar
HEPHL1_chr11_94016354_94119208	94042875	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18522.hp1 HG03579.hp2 NA18522.hp1	a0001 a0021 a0001 a0021	a0001c0001 a0021c0031 a0001c0001 a0021c0031	a0001c0001t0001 a0021c0031t0001 a0001c0001t0001 a0021c0031t0001	a0001c0001t0001g0123 a0021c0031t0001g0124 a0001c0001t0001g0123 a0021c0031t0001g0124	2	368	0.0054	22	c.171 others(39): Show c.171-2780_171-2779insAAAAAAAAAAAAAAAAAAAAAA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94078446	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03139.hp1 HG04228.hp1 HG00423.hp1 HG03139.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0007t0004 a0001c0001t0001 a0001c0001t0002 a0001c0007t0004	a0001c0001t0001g0137 a0001c0001t0002g0035 a0001c0007t0004g0023 a0001c0001t0001g0137 a0001c0001t0002g0035 a0001c0007t0004g0023	3	368	0.0082	22	c.171 others(41): Show c.1716+3070_1716+3091dupATATATATATATATATATATAT	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(15): Show GATAGATAGATAGATATATATAT	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0132 a0001c0006t0006g0132	1	368	0.0027	22	c.243 others(39): Show c.2434+334_2434+335insGATAGATAGATATATATATATA	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(15): Show GATAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0010 a0007c0008t0010	a0007c0008t0010g0054 a0007c0008t0010g0054	1	368	0.0027	22	c.243 others(39): Show c.2434+334_2434+335insGATATATATATATATATATATA	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(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01070.hp2 HG01123.hp2 others(10): Show HG00558.hp1 HG01070.hp2 HG01123.hp2 HG01261.hp1 HG02818.hp1 HG02965.hp2 HG03130.hp1 HG03579.hp2 HG03927.hp2 HG06807.hp1 NA18947.hp1 NA18959.hp1 NA19088.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0022	a0001c0001 a0002c0002 a0004c0004 others(2): Show a0001c0001 a0002c0002 a0004c0004 a0005c0011 a0022c0019	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0005c0011t0001 a0022c0019t0001	a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0231 others(10): Show a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0231 a0001c0001t0001g0316 a0001c0001t0001g0322 a0001c0001t0001g0325 a0001c0001t0001g0343 a0002c0002t0001g0018 a0002c0002t0001g0019 a0004c0004t0001g0360 a0005c0011t0001g0181 a0005c0011t0001g0182 a0022c0019t0001g0233	13	368	0.0353	22	c.243 others(39): Show c.2434+353_2434+374dupTATATATATATATATATATATA	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(15): Show CATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	368	0.0027	22	c.36 others(33): Show c.3678_*3679insATATATATATATATATATATAT	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding		1365		chr11	TogoVar
HEPH_chrX_66159247_66272389	66200241	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0013 a0002c0004t0002g0013	1	218	0.0046	22	c.186 others(39): Show c.1865-288_1865-267dupGTGTGTGTGTGTGTGTGTGTGT	HEPH	ENSG00000089472.18	transcript	ENST00000343002.7	protein_coding	11/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
HERC1_chr15_63603618_63838948	63720103	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00738.hp2 others(25): Show HG00280.hp1 HG00438.hp2 HG00738.hp2 HG01169.hp1 HG01192.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01952.hp2 HG01981.hp2 HG02109.hp1 HG02258.hp2 HG02451.hp2 HG02572.hp2 HG02630.hp1 HG02717.hp2 HG02735.hp2 HG03492.hp2 HG04199.hp2 HG06807.hp2 NA18944.hp1 NA18954.hp1 NA18981.hp1 NA18991.hp2 NA19003.hp1 NA19030.hp1 NA19043.hp2 NA19086.hp2	a0001 a0017 a0001 a0017	a0001c0001 a0001c0006 a0001c0008 others(2): Show a0001c0001 a0001c0006 a0001c0008 a0001c0013 a0017c0024	a0001c0001t0001 a0001c0006t0001 a0001c0008t0001 others(2): Show a0001c0001t0001 a0001c0006t0001 a0001c0008t0001 a0001c0013t0001 a0017c0024t0001	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0117 others(24): Show a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0006t0001g0002 a0001c0006t0001g0125 a0001c0006t0001g0126 a0001c0008t0001g0143 a0001c0008t0001g0144 a0001c0008t0001g0145 a0001c0008t0001g0147 a0001c0008t0001g0160 a0001c0008t0001g0161 a0001c0013t0001g0154 a0017c0024t0001g0124	28	216	0.1296	22	c.374 others(41): Show c.3743-1207_3743-1206insAAAAAAAAAAAAAAAAAAAAAA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	19/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63737516	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0079 a0002c0003t0001g0079	1	216	0.0046	22	c.252 others(41): Show c.2521-2689_2521-2668dupATATATATATATATATATATAT	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	12/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63744164	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTCTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0002 a0002c0018t0002	a0002c0018t0002g0067 a0002c0018t0002g0067	1	216	0.0046	22	c.252 others(41): Show c.2520+2753_2520+2754insGAGACACACACACACACACACA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	12/77			chr15	TogoVar
HERC2_chr15_28106040_28327179	28279615	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0004 a0004c0012t0002g0004	1	250	0.0040	22	c.542 others(37): Show c.542+431_542+452dupTGTGTGTGTGTGTGTGTGTGTG	HERC2	ENSG00000128731.18	transcript	ENST00000261609.13	protein_coding	5/92			chr15	TogoVar
HERPUD1_chr16_56927142_56949864	56945855	C C	CCCCCGCC others(15): Show CCCCCGCCCCCCCCCCCCACCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	428	0.0023	22	c.25 others(33): Show c.2565_*2566insCCCCGCCCCCCCCCCCCACCCA	HERPUD1	ENSG00000051108.15	transcript	ENST00000439977.7	protein_coding		992		chr16	TogoVar
HERPUD2_chr7_35627659_35700135	35629727	T T	TATGTCAC others(15): Show TATGTCACCAAAGTATGATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00558.hp2 others(81): Show HG00140.hp1 HG00408.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01175.hp2 HG01255.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02080.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG02818.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03516.hp1 HG03579.hp1 HG03704.hp1 HG04115.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18968.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18998.hp1 NA19000.hp2 NA19004.hp1 NA19006.hp2 NA19009.hp2 NA19030.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19064.hp1 NA19068.hp2 NA19076.hp1 NA19077.hp1 NA19085.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA21309.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0007 a0006c0005 a0001c0001 a0005c0007 a0006c0005	a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 others(4): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0005c0007t0003 a0006c0005t0003	a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 others(81): Show a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0007g0136 a0001c0001t0007g0174 a0001c0001t0011g0222 a0001c0001t0011g0223 a0001c0001t0011g0224 a0001c0001t0014g0125 a0001c0001t0017g0157 a0005c0007t0003g0134 a0006c0005t0003g0194	84	392	0.2143	22	c.39 others(33): Show c.3962_*3963insTCACATCATACTTTGGTGACAT	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding		2931		chr7	TogoVar
HERPUD2_chr7_35627659_35700135	35631799	T T	TATATAAA others(15): Show TATATAAATTATATATAAATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03669.hp1 HG04204.hp2 HG03491.hp2 HG03669.hp1 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0371 a0002c0002t0002g0372 a0002c0002t0002g0373 a0002c0002t0002g0371 a0002c0002t0002g0372 a0002c0002t0002g0373	3	392	0.0077	22	c.18 others(33): Show c.1890_*1891insTATATTTATATATAATTTATAT	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding		859		chr7	TogoVar
HERPUD2_chr7_35627659_35700135	35631810	T T	TTATATAT others(15): Show TTATATATAAATTATATATAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	392	0.0026	22	c.18 others(33): Show c.1879_*1880insTTTTATATATAATTTATATATA	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding		848		chr7	TogoVar
HERPUD2_chr7_35627659_35700135	35631914	T T	TATAAATA others(15): Show TATAAATATATAAATTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	392	0.0026	22	c.17 others(33): Show c.1775_*1776insTATATATAATTTATATATTTAT	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding		744		chr7	TogoVar
HES1_chr3_194131148_194143732	194141600	G G	GCGGCGGG others(15): Show GCGGCGGGGAGAGGGGCGGGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(424): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0001c0002t0014 a0002c0003t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0004g0001 a0001c0001t0004g0003 a0001c0001t0005g0001 a0001c0001t0006g0002 a0001c0001t0007g0001 a0001c0001t0007g0005 a0001c0001t0008g0001 a0001c0001t0010g0001 a0001c0001t0012g0002 a0001c0001t0013g0001 a0001c0001t0015g0001 a0001c0002t0001g0001 a0001c0002t0002g0001 a0001c0002t0003g0001 a0001c0002t0003g0004 a0001c0002t0011g0008 a0001c0002t0014g0010 a0002c0003t0003g0002	427	434	0.9839	22	c.33 others(33): Show c.3367_*3368insCGGCGGGGAGAGGGGCGGGAGC	HES1	ENSG00000114315.4	transcript	ENST00000232424.4	protein_coding		2869		chr3	TogoVar
HEXA_chr15_72335924_72381014	72340841	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG02523.hp2 HG03471.hp1 others(3): Show HG00642.hp1 HG02523.hp2 HG03471.hp1 NA18612.hp2 NA18943.hp1 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0003c0004t0005 a0001c0001t0001 a0001c0001t0002 a0003c0004t0005	a0001c0001t0001g0019 a0001c0001t0001g0110 a0001c0001t0001g0135 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0110 a0001c0001t0001g0135 a0001c0001t0002g0002 a0001c0001t0002g0144 a0003c0004t0005g0036	6	354	0.0170	22	c.32 others(33): Show c.3235_*3236insTGTGTGTGTGTGTGTGTGTGTG	HEXA	ENSG00000213614.11	transcript	ENST00000268097.10	protein_coding		82		chr15	TogoVar
HEXD_chr17_82413347_82447645	82429296	T T	TGCATCAA others(15): Show TGCATCAAACAGGAAGTGATGCG	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19043.hp2 HG03130.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0002 a0001c0013t0002 a0001c0001t0002 a0001c0013t0002	a0001c0001t0002g0026 a0001c0013t0002g0027 a0001c0001t0002g0026 a0001c0013t0002g0027	2	400	0.0050	22	c.282 others(37): Show c.282+656_282+677dupCAAACAGGAAGTGATGCGGCAT	HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
HEXD_chr17_82413347_82447645	82433091	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0096 a0002c0002t0001g0096	1	400	0.0025	22	c.283 others(37): Show c.283-566_283-565insAAAAAAAAAAAAAAAAAAAATA	HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
HEXD_chr17_82413347_82447645	82433091	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0100 a0002c0002t0001g0100	1	400	0.0025	22	c.283 others(37): Show c.283-566_283-565insAAAAAAAAAAAAAAAATATATA	HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
HEY1_chr8_79759010_79772767	79769371	A A	ATCTTTTT others(15): Show ATCTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00438.hp2 others(87): Show HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01081.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02602.hp2 HG02809.hp1 HG02886.hp1 HG03710.hp2 HG03834.hp1 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18968.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18989.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA19007.hp1 NA19007.hp2 NA19054.hp1 NA19055.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19074.hp2 NA19078.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0021 a0001c0001t0002g0027 a0001c0001t0003g0003 a0001c0001t0006g0013	90	460	0.1957	22	c.-17 others(33): Show c.-1709_-1708insAAAAAAAAAAAAAAAAAAAAGA	HEY1	ENSG00000164683.19	transcript	ENST00000354724.8	protein_coding		1605		chr8	TogoVar
HFM1_chr1_91255766_91409837	91264361	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01943.hp1 HG02055.hp2 others(6): Show HG01258.hp2 HG01943.hp1 HG02055.hp2 HG02630.hp2 HG02698.hp2 HG03041.hp1 HG06807.hp2 NA18987.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 a0002c0003t0001	a0001c0001t0001g0061 a0001c0001t0001g0193 a0001c0001t0001g0292 others(6): Show a0001c0001t0001g0061 a0001c0001t0001g0193 a0001c0001t0001g0292 a0001c0004t0001g0168 a0001c0007t0001g0192 a0002c0003t0001g0333 a0002c0003t0001g0340 a0002c0003t0001g0341 a0002c0003t0001g0345	9	362	0.0249	22	c.397 others(41): Show c.3974+1634_3974+1655dupAAAAAAAAAAAAAAAAAAAAAA	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding	36/38			chr1	TogoVar
HFM1_chr1_91255766_91409837	91408716	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 NA19030.hp2 HG03098.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0178 a0001c0002t0001g0050 a0001c0001t0001g0178 a0001c0002t0001g0050	2	362	0.0055	22	c.-39 others(33): Show c.-3947_-3946insGAAAGAAAGAAAGAAAGAAAGA	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding		3880		chr1	TogoVar
HGD_chr3_120623172_120687239	120624712	G G	GGAGAGAG others(15): Show GGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG00621.hp1 others(36): Show HG00323.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG01070.hp1 HG01071.hp2 HG01167.hp1 HG01975.hp2 HG02080.hp2 HG02135.hp2 HG02293.hp1 HG02683.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG04184.hp2 NA18522.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18947.hp1 NA18960.hp1 NA18965.hp1 NA18982.hp1 NA18983.hp2 NA18991.hp1 NA18995.hp1 NA19005.hp1 NA19011.hp1 NA19012.hp1 NA19057.hp1 NA19064.hp2 NA19067.hp1 NA19076.hp2 NA19086.hp1 NA19091.hp1 NA21309.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0007c0009	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0007c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0012 others(34): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0051 a0001c0001t0001g0134 a0001c0001t0001g0160 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0208 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0336 a0001c0003t0001g0088 a0002c0002t0001g0069 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0246 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0271 a0002c0002t0001g0273 a0002c0002t0001g0282 a0002c0002t0001g0299 a0002c0002t0001g0303 a0002c0002t0001g0316 a0002c0002t0001g0324 a0002c0002t0001g0329 a0002c0002t0001g0343 a0002c0002t0001g0345 a0002c0002t0001g0347 a0007c0009t0001g0314	39	374	0.1043	22	c.36 others(33): Show c.3667_*3668insTCTCTCTCTCTCTCTCTCTCTC	HGD	ENSG00000113924.12	transcript	ENST00000283871.10	protein_coding		3459		chr3	TogoVar
HGD_chr3_120623172_120687239	120630798	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp2 HG02559.hp2 others(1): Show HG00639.hp1 HG01175.hp2 HG02559.hp2 HG02809.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0059 a0001c0001t0001g0162 a0002c0002t0001g0260 others(1): Show a0001c0001t0001g0059 a0001c0001t0001g0162 a0002c0002t0001g0260 a0002c0002t0001g0262	4	374	0.0107	22	c.118 others(41): Show c.1189-2291_1189-2270dupTATATATATATATATATATATA	HGD	ENSG00000113924.12	transcript	ENST00000283871.10	protein_coding	13/13			chr3	TogoVar
HGF_chr7_81694010_81775047	81697198	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 NA18966.hp2 NA18977.hp2 others(2): Show HG02622.hp1 NA18966.hp2 NA18977.hp2 NA19068.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0001t0002 a0001c0002t0004	a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 others(2): Show a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0155 a0001c0002t0004g0257	5	272	0.0184	22	c.53 others(33): Show c.5382_*5383insTATATATATATATATATATATA	HGF	ENSG00000019991.18	transcript	ENST00000222390.11	protein_coding		1811		chr7	TogoVar

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