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
HDAC9_chr7_18490749_19007416	18719331	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0025 a0001c0002t0004g0025	1	156	0.0064	30	c.173 others(49): Show c.1732-8223_1732-8222insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18732651	A A	ACACACAC others(23): Show ACACACACACGTGTATATGTGTGCGTATGTG	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA20129.hp1 HG02976.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0007 a0001c0002t0001 a0001c0002t0007	a0001c0002t0001g0033 a0001c0002t0007g0027 a0001c0002t0001g0033 a0001c0002t0007g0027	2	156	0.0128	30	c.190 others(49): Show c.1909+4894_1909+4895insCACACACACGTGTATATGTGTGCGTA TGTG	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25			chr7	TogoVar
HDAC9_chr7_18490749_19007416	18824044	G G	GGAAGAGG others(23): Show GGAAGAGGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18979.hp2 NA18983.hp2 others(1): Show HG04115.hp2 NA18979.hp2 NA18983.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0002t0004 a0001c0002t0030 others(1): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0030 a0001c0005t0002	a0001c0002t0002g0113 a0001c0002t0004g0091 a0001c0002t0030g0015 others(1): Show a0001c0002t0002g0113 a0001c0002t0004g0091 a0001c0002t0030g0015 a0001c0005t0002g0105	4	156	0.0256	30	c.232 others(49): Show c.2323-5112_2323-5111insGGAAGAAGAAGAAGAAGAAGAAGAAG AAGA	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	17/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18824044	G G	GGAAGAGG others(23): Show GGAAGAGGAAGAGGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02040.hp1 HG02056.hp1 others(7): Show HG01255.hp1 HG02040.hp1 HG02056.hp1 HG02258.hp2 HG02523.hp1 HG03516.hp1 HG03669.hp2 HG04115.hp1 HG06807.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0039 a0001c0001t0050 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0008t0024	a0001c0001t0003g0133 a0001c0001t0003g0156 a0001c0001t0004g0011 others(7): Show a0001c0001t0003g0133 a0001c0001t0003g0156 a0001c0001t0004g0011 a0001c0001t0005g0143 a0001c0001t0039g0129 a0001c0001t0050g0062 a0001c0002t0003g0080 a0001c0002t0005g0115 a0001c0002t0006g0138 a0001c0008t0024g0122	10	156	0.0641	30	c.232 others(49): Show c.2323-5112_2323-5111insGGAAGAGGAAGAAGAAGAAGAAGAAG AAGA	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	17/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18824084	G G	GAAGAAGA others(23): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02572.hp2 HG01255.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0035 a0001c0006t0008 a0001c0001t0035 a0001c0006t0008	a0001c0001t0035g0054 a0001c0006t0008g0071 a0001c0001t0035g0054 a0001c0006t0008g0071	2	156	0.0128	30	c.232 others(49): Show c.2323-5072_2323-5071insGAAGAAGAAGAAGAAGAAGAAGAACA AGAA	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	17/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDDC2_chr6_125270350_125306967	125301808	C C	CGCCCGCT others(23): Show CGCCCGCTCGGCCGCGGCCTCCCGGCCTGGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	374	0.0027	30	c.84+ others(41): Show c.84+11_84+40dupACCAGGCCGGGAGGCCGCGGCCGAGCGGGC	HDDC2	ENSG00000111906.18	transcript	ENST00000398153.7	protein_coding	1/5			chr6	TogoVar
HDHD3_chr9_113368422_113381986	113381760	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0074 a0002c0002t0008g0074	1	464	0.0022	30	c.-53 others(41): Show c.-5323_-5322insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	HDHD3	ENSG00000119431.10	transcript	ENST00000374180.4	protein_coding		4775		chr9	TogoVar
HDHD5_chr22_17132520_17164277	17149385	C C	CCAAATAC others(23): Show CCAAATACACAGGCAGGATTTCTGTGTTCAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0091 a0001c0002t0001g0092	2	422	0.0047	30	c.330 others(45): Show c.330+127_330+156dupCTGAACACAGAAATCCTGCCTGTGTATTTG	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	2/7			chr22	TogoVar
HEATR4_chr14_73473484_73563947	73506804	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01943.hp2 HG01993.hp2 others(4): Show HG01167.hp2 HG01943.hp2 HG01993.hp2 NA18957.hp1 NA19011.hp2 NA19088.hp1 NA19240.hp2	a0001 a0022 a0001 a0022	a0001c0002 a0022c0025 a0001c0002 a0022c0025	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0022c0025t0001	a0001c0002t0001g0054 a0001c0002t0002g0274 a0001c0002t0002g0292 others(4): Show a0001c0002t0001g0054 a0001c0002t0002g0274 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0003g0249 a0022c0025t0001g0056	7	368	0.0190	30	c.188 others(47): Show c.1882-234_1882-233insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	9/17			chr14	TogoVar
HEATR4_chr14_73473484_73563947	73524310	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0027 a0009c0015t0001g0027	1	368	0.0027	30	c.-72 others(47): Show c.-72-1087_-72-1086insATATATATATATATATATTTTTTTTTTT TT	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	2/17			chr14	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0009 a0002c0003t0003g0009	1	314	0.0032	30	c.591 others(49): Show c.5912-2422_5912-2421insATATTTTTTTTTTTTTTTTTTTTTTT TTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0002 a0002c0003t0003g0002	1	314	0.0032	30	c.591 others(49): Show c.5912-2422_5912-2421insATATATATATATTTTTTTTTTTTTTT TTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0005 a0002c0003t0003g0006 a0002c0003t0003g0005 a0002c0003t0003g0006	2	314	0.0064	30	c.591 others(49): Show c.5912-2422_5912-2421insATATATATATATATTTTTTTTTTTTT TTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0012 a0012	a0012c0029 a0012c0029	a0012c0029t0001 a0012c0029t0001	a0012c0029t0001g0269 a0012c0029t0001g0269	1	314	0.0032	30	c.591 others(49): Show c.5912-2422_5912-2421insATATATATATATATATATTTTTTTTT TTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GAGATGGA others(23): Show GAGATGGATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0233 a0001c0002t0006g0233	1	314	0.0032	30	c.321 others(47): Show c.3216+709_3216+710insATATATATATATATATATATATATCCAT CT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0179 a0001c0004t0001g0179	1	314	0.0032	30	c.321 others(47): Show c.3216+709_3216+710insATATATATATATATATATATATATATAT AT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HECTD1_chr14_31095117_31212793	31096670	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 NA19240.hp2 HG03540.hp2 NA19240.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0030 a0001c0002 a0008c0030	a0001c0002t0001 a0008c0030t0001 a0001c0002t0001 a0008c0030t0001	a0001c0002t0001g0311 a0008c0030t0001g0307 a0001c0002t0001g0311 a0008c0030t0001g0307	2	342	0.0059	30	c.42 others(41): Show c.4259_*4260insATATATATATATATATATATATATATATAT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding		3446		chr14	TogoVar
HECTD4_chr12_112155195_112387431	112246141	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0249 a0001c0002t0008g0249	1	270	0.0037	30	c.451 others(47): Show c.4513+730_4513+759dupATTTTATTTTATTTTATTTTATTTTATT TT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	29/75			chr12	TogoVar
HECW1_chr7_43107647_43571001	43430779	T T	TTTATTAT others(23): Show TTTATTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00673.hp2 HG00735.hp2 others(6): Show HG00099.hp1 HG00673.hp2 HG00735.hp2 HG02109.hp1 HG04228.hp2 HG06807.hp2 NA19066.hp1 NA19085.hp1 NA20129.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0021 a0003c0008 a0005c0026	a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 others(5): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0004t0001 a0001c0006t0003 a0001c0021t0029 a0003c0008t0010 a0005c0026t0025	a0001c0002t0001g0172 a0001c0002t0003g0066 a0001c0002t0003g0124 others(6): Show a0001c0002t0001g0172 a0001c0002t0003g0066 a0001c0002t0003g0124 a0001c0003t0001g0102 a0001c0004t0001g0108 a0001c0006t0003g0096 a0001c0021t0029g0093 a0003c0008t0010g0003 a0005c0026t0025g0149	9	182	0.0495	30	c.802 others(47): Show c.802-7204_802-7203insATTATTATTATTATTATTATTATTATTA TT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	8/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW2_chr2_196189072_196598554	196278131	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01358.hp1 HG01361.hp2 others(2): Show HG01168.hp1 HG01358.hp1 HG01361.hp2 HG04204.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0023 a0001c0002t0004 a0001c0002t0006 others(1): Show a0001c0001t0023 a0001c0002t0004 a0001c0002t0006 a0001c0002t0024	a0001c0001t0023g0109 a0001c0002t0004g0006 a0001c0002t0006g0077 others(2): Show a0001c0001t0023g0109 a0001c0002t0004g0006 a0001c0002t0006g0077 a0001c0002t0006g0102 a0001c0002t0024g0085	5	112	0.0446	30	c.313 others(47): Show c.3135+396_3135+397insATATATATATATATATATATATATATAT AT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	15/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196286387	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02735.hp1 HG02976.hp2 others(3): Show HG02717.hp1 HG02735.hp1 HG02976.hp2 HG03195.hp1 HG03492.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0010 others(1): Show a0001c0001 a0001c0004 a0001c0010 a0004c0018	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0004t0007 a0001c0010t0018 a0004c0018t0019	a0001c0001t0002g0075 a0001c0001t0006g0019 a0001c0001t0012g0034 others(3): Show a0001c0001t0002g0075 a0001c0001t0006g0019 a0001c0001t0012g0034 a0001c0004t0007g0057 a0001c0010t0018g0043 a0004c0018t0019g0088	6	112	0.0536	30	c.300 others(49): Show c.3000+6177_3000+6178insATATATATATATATATATATATATAT ATAT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	14/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196569371	C C	CTAAACTA others(23): Show CTAAACTAAACTAAACTAAACTAAAATAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0105 a0001c0007t0004g0105	1	112	0.0089	30	c.-36 others(49): Show c.-36+24136_-36+24137insTTTTATTTTAGTTTAGTTTAGTTTAG TTTA	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196582069	A A	AAATAATA others(23): Show AAATAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0014 a0001c0001t0006g0014	1	112	0.0089	30	c.-36 others(49): Show c.-36+11438_-36+11439insATTATTATTATTATTATTATTATTAT TATT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28			chr2	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(23): Show CACACACACACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA20129.hp1 NA19043.hp2 NA20129.hp1	a0005 a0016 a0005 a0016	a0005c0005 a0016c0057 a0005c0005 a0016c0057	a0005c0005t0088 a0016c0057t0128 a0005c0005t0088 a0016c0057t0128	a0005c0005t0088g0066 a0016c0057t0128g0211 a0005c0005t0088g0066 a0016c0057t0128g0211	2	362	0.0055	30	c.373 others(49): Show c.3733+2834_3733+2835insATATATATATATATATGTGTGTGTGT GTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
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	a0006c0040 a0006c0040	a0006c0040t0001 a0006c0040t0001	a0006c0040t0001g0099 a0006c0040t0001g0099	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 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0300 others(7): Show a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0011t0001g0306	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 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0006 a0001c0010t0001 a0001c0001t0001 a0001c0001t0006 a0001c0010t0001	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 a0001c0010t0001g0311	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

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