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
HCRTR2_chr6_55169515_55287617	55279445	A A	AGTACTCT others(21): Show AGTACTCTTTATACCAGAAATGGTATAAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01891.hp2 HG02647.hp1 others(4): Show HG01099.hp2 HG01891.hp2 HG02647.hp1 HG02895.hp2 HG03041.hp1 HG03130.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0216 a0001c0003t0001g0012 a0001c0003t0001g0272 others(4): Show a0001c0001t0001g0216 a0001c0003t0001g0012 a0001c0003t0001g0272 a0001c0003t0002g0101 a0001c0003t0002g0153 a0001c0003t0002g0217 a0001c0003t0002g0357	7	368	0.0190	28	c.984 others(43): Show c.984-873_984-846dupTCTTTATACCAGAAATGGTATAAGGTAC	HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
HCRTR2_chr6_55169515_55287617	55279452	T T	TTTATACC others(21): Show TTTATACCAGAAATGGTATAAGGTACACC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA19057.hp2 NA18980.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0260 a0001c0001t0001g0261	2	368	0.0054	28	c.984 others(43): Show c.984-856_984-829dupGTATAAGGTACACCTTATACCAGAAATG	HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
HDAC2_chr6_113928028_113976148	113930739	T T	TCTCTCTC others(21): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0091 a0001c0001t0004g0091	1	402	0.0025	28	c.10 others(41): Show c.10318_*10319insGGAGAGAGAGAGAGAGAGAGAGAGAGAG	HDAC2	ENSG00000196591.12	transcript	ENST00000519065.6	protein_coding		2288		chr6	TogoVar
HDAC9_chr7_18490749_19007416	18547857	T T	TTCCTTCC others(21): Show TTCCTTCCTTCCTTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03579.hp2 HG02615.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0148 a0001c0001t0006g0149 a0001c0001t0002g0148 a0001c0001t0006g0149	2	156	0.0128	28	c.23- others(45): Show c.23-37424_23-37423insTCCTTCCTTCCTTCCCTCCCTCCCTCCC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	2/25			chr7	TogoVar
HDAC9_chr7_18490749_19007416	18932848	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02965.hp2 HG04199.hp2 others(1): Show HG00738.hp1 HG02965.hp2 HG04199.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0010 a0001c0002t0001 others(1): Show a0001c0001t0006 a0001c0001t0010 a0001c0002t0001 a0001c0002t0003	a0001c0001t0006g0142 a0001c0001t0010g0103 a0001c0002t0001g0044 others(1): Show a0001c0001t0006g0142 a0001c0001t0010g0103 a0001c0002t0001g0044 a0001c0002t0003g0063	4	156	0.0256	28	c.280 others(47): Show c.2804-2956_2804-2929dupAAAGAAAGAAAGAAAGAAAGAAAGAA AG	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	22/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDGFL3_chr15_83122753_83212823	83198054	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0097 a0001c0001t0018g0097	1	246	0.0041	28	c.84+ others(43): Show c.84+9276_84+9277insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	HDGFL3	ENSG00000166503.9	transcript	ENST00000299633.7	protein_coding	1/5			chr15	TogoVar
HDHD5_chr22_17132520_17164277	17157085	T T	TACACACA others(21): Show TACACACATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0239 a0001c0004t0001g0239	1	422	0.0024	28	c.126 others(45): Show c.126+2040_126+2041insGTGTGTGTGTGTGTGTGTGTATGTGTGT	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	1/7			chr22	TogoVar
HDX_chrX_84312878_84507453	84417218	G G	GAAAAAGA others(21): Show GAAAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18953.hp1 NA18956.hp1 others(3): Show HG00423.hp2 NA18953.hp1 NA18956.hp1 NA19011.hp2 NA19068.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0001t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0138 others(3): Show a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0002g0135 a0001c0001t0002g0219 a0001c0006t0001g0136	6	269	0.0223	28	c.130 others(49): Show c.1305+23313_1305+23314insTTCTTTCTTTCTTTCTTTCTTTCT TTTT	HDX	ENSG00000165259.14	transcript	ENST00000373177.3	protein_coding	5/10			chrX	TogoVar
HEATR4_chr14_73473484_73563947	73506804	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0276 a0001c0002t0002g0276	1	368	0.0027	28	c.188 others(45): Show c.1882-234_1882-233insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	9/17			chr14	TogoVar
HEATR4_chr14_73473484_73563947	73524310	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0004 a0011c0016t0004	a0011c0016t0004g0352 a0011c0016t0004g0352	1	368	0.0027	28	c.-72 others(45): Show c.-72-1087_-72-1086insATATATATATATATATATATATATTTTT	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	2/17			chr14	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	314	0.0032	28	c.591 others(47): Show c.5912-2422_5912-2421insATATATATATTTTTTTTTTTTTTTTT TT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0060	1	314	0.0032	28	c.591 others(47): Show c.5912-2422_5912-2421insATATATATATATTTTTTTTTTTTTTT TT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GAGATAGA others(21): Show GAGATAGATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18522.hp1 HG03486.hp2 NA18522.hp1	a0002 a0002	a0002c0003 a0002c0021 a0002c0003 a0002c0021	a0002c0003t0001 a0002c0021t0001 a0002c0003t0001 a0002c0021t0001	a0002c0003t0001g0077 a0002c0021t0001g0297 a0002c0003t0001g0077 a0002c0021t0001g0297	2	314	0.0064	28	c.321 others(45): Show c.3216+709_3216+710insATATATATATATATATATATATCTATCT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GAGATGGA others(21): Show GAGATGGATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18970.hp2 NA19010.hp1 others(1): Show NA18949.hp2 NA18970.hp2 NA19010.hp1 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0001 a0001c0002t0008	a0001c0002t0001g0103 a0001c0002t0001g0162 a0001c0002t0001g0260 others(1): Show a0001c0002t0001g0103 a0001c0002t0001g0162 a0001c0002t0001g0260 a0001c0002t0008g0122	4	314	0.0127	28	c.321 others(45): Show c.3216+709_3216+710insATATATATATATATATATATATCCATCT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02572.hp1 NA18906.hp1 HG00738.hp2 HG02572.hp1 NA18906.hp1	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0004 a0004c0018 a0011c0025 a0001c0004 a0004c0018 a0011c0025	a0001c0004t0001 a0004c0018t0001 a0011c0025t0003 a0001c0004t0001 a0004c0018t0001 a0011c0025t0003	a0001c0004t0001g0071 a0004c0018t0001g0146 a0011c0025t0003g0004 a0001c0004t0001g0071 a0004c0018t0001g0146 a0011c0025t0003g0004	3	314	0.0096	28	c.321 others(45): Show c.3216+709_3216+710insATATATATATATATATATATATATATAT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HECTD1_chr14_31095117_31212793	31096670	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0309 a0001c0002t0001g0309	1	342	0.0029	28	c.42 others(39): Show c.4259_*4260insATATATATATATATATATATATATATAT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding		3446		chr14	TogoVar
HECTD1_chr14_31095117_31212793	31134042	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0235 a0001c0002t0001g0235	1	342	0.0029	28	c.357 others(45): Show c.3579-368_3579-367insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	22/42			chr14	TogoVar
HECTD4_chr12_112155195_112387431	112323947	C C	CTTCTTCC others(21): Show CTTCTTCCTTTCTTCCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	270	0.0037	28	c.178 others(45): Show c.178-4206_178-4205insAGAAAGAAAGAAAGGAAGAAAGGAAGAA	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112323947	C C	CTTCTTTC others(21): Show CTTCTTTCTTCCTTCCTTCCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	270	0.0037	28	c.178 others(45): Show c.178-4206_178-4205insAGAAAGAAAGGAAGGAAGGAAGAAAGAA	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112323969	C C	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0109 a0001c0003t0002g0109	1	270	0.0037	28	c.178 others(45): Show c.178-4228_178-4227insAAAGAAAGAAAGAAAGAAAGAAAGAAAG	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112335143	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0017 a0012c0022t0017	a0012c0022t0017g0267 a0012c0022t0017g0267	1	270	0.0037	28	c.178 others(47): Show c.178-15402_178-15401insGTGTGTGTGTGTGTGTGTGTGTGTGT GT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECW2_chr2_196189072_196598554	196278131	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01891.hp1 HG02738.hp2 others(4): Show HG01515.hp1 HG01891.hp1 HG02738.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 others(3): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0015 a0001c0002t0032 a0001c0003t0009	a0001c0002t0001g0003 a0001c0002t0001g0039 a0001c0002t0005g0091 others(4): Show a0001c0002t0001g0003 a0001c0002t0001g0039 a0001c0002t0005g0091 a0001c0002t0006g0035 a0001c0002t0015g0036 a0001c0002t0032g0090 a0001c0003t0009g0073	7	112	0.0625	28	c.313 others(45): Show c.3135+396_3135+397insATATATATATATATATATATATATATAT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	15/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196286387	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01361.hp1 HG01496.hp1 others(4): Show HG00733.hp1 HG01361.hp1 HG01496.hp1 HG02818.hp1 HG02965.hp2 HG03239.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0019 a0001c0001 a0001c0003 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0017 a0001c0003t0003 a0001c0019t0001	a0001c0001t0001g0009 a0001c0001t0002g0061 a0001c0001t0006g0014 others(4): Show a0001c0001t0001g0009 a0001c0001t0002g0061 a0001c0001t0006g0014 a0001c0001t0006g0026 a0001c0001t0017g0022 a0001c0003t0003g0067 a0001c0019t0001g0103	7	112	0.0625	28	c.300 others(47): Show c.3000+6177_3000+6178insATATATATATATATATATATATATAT AT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	14/28			chr2	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(21): Show CACACACACACACACACACACACATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0018 a0018	a0018c0028 a0018c0028	a0018c0028t0007 a0018c0028t0007	a0018c0028t0007g0035 a0018c0028t0007g0035	1	362	0.0028	28	c.373 others(47): Show c.3733+2834_3733+2835insATATATGTGTGTGTGTGTGTGTGTGT GT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HELB_chr12_66297493_66343199	66327064	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18995.hp2 HG03704.hp2 NA18995.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0186 a0002c0001t0002g0200 a0002c0001t0002g0186 a0002c0001t0002g0200	2	390	0.0051	28	c.267 others(47): Show c.2670+1939_2670+1940insTATATATATATATATATATATATATA TA	HELB	ENSG00000127311.10	transcript	ENST00000247815.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
HELB_chr12_66297493_66343199	66327066	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0050 a0005c0015t0001g0050	1	390	0.0026	28	c.267 others(47): Show c.2670+1941_2670+1942insAATATATATATATATATATATATATA TA	HELB	ENSG00000127311.10	transcript	ENST00000247815.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
HELLS_chr10_94540788_94607099	94542798	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	358	0.0028	28	c.-31 others(39): Show c.-3124_-3123insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding		2989		chr10	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATAGA others(21): Show TATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG04204.hp1 HG00741.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0049 a0001c0001t0015 a0001c0001t0049	a0001c0001t0015g0196 a0001c0001t0049g0091 a0001c0001t0015g0196 a0001c0001t0049g0091	2	274	0.0073	28	c.524 others(47): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTCTCTCTCTAT AT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(21): Show TATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19010.hp2 NA19054.hp2 HG01109.hp1 NA19010.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0047 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0047 a0002c0002t0003g0058 a0002c0002t0003g0059	3	274	0.0110	28	c.524 others(47): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTCTCTCTATAT AT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(21): Show TATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0049 a0002c0002t0003g0049	1	274	0.0037	28	c.524 others(47): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTCTCTATATAT AT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(21): Show TATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG04184.hp2 NA19030.hp2 HG03927.hp2 HG04184.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0054 a0002c0002t0003 a0001c0001t0001 a0001c0001t0054 a0002c0002t0003	a0001c0001t0001g0203 a0001c0001t0054g0193 a0002c0002t0003g0056 a0001c0001t0001g0203 a0001c0001t0054g0193 a0002c0002t0003g0056	3	274	0.0110	28	c.524 others(47): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTCTATATATAT AT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(21): Show TATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03225.hp2 HG03239.hp2 others(2): Show HG02896.hp2 HG03225.hp2 HG03239.hp2 HG03704.hp1 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0002c0002t0005 others(1): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0005 a0002c0002t0026	a0001c0001t0001g0170 a0001c0001t0001g0227 a0001c0001t0006g0202 others(2): Show a0001c0001t0001g0170 a0001c0001t0001g0227 a0001c0001t0006g0202 a0002c0002t0005g0086 a0002c0002t0026g0020	5	274	0.0183	28	c.524 others(47): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTATATATATAT AT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(21): Show TATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02818.hp1 HG02895.hp2 others(2): Show HG01069.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0010 a0002c0002t0005 a0001c0001t0001 a0001c0001t0010 a0002c0002t0005	a0001c0001t0001g0172 a0001c0001t0010g0174 a0001c0001t0010g0233 others(2): Show a0001c0001t0001g0172 a0001c0001t0010g0174 a0001c0001t0010g0233 a0002c0002t0005g0075 a0002c0002t0005g0076	5	274	0.0183	28	c.524 others(47): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTATATATATATAT AT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(21): Show TATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18989.hp2 HG02970.hp2 NA18989.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0005 a0001c0001t0001 a0002c0002t0005	a0001c0001t0001g0183 a0002c0002t0005g0081 a0001c0001t0001g0183 a0002c0002t0005g0081	2	274	0.0073	28	c.524 others(47): Show c.5242-2588_5242-2587insCTCTCTCTCTATATATATATATATAT AT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(21): Show TATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0080 a0002c0002t0005g0080	1	274	0.0037	28	c.524 others(47): Show c.5242-2588_5242-2587insCTCTCTATATATATATATATATATAT AT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089694	G G	GAGAGAGA others(21): Show GAGAGAGAGAGACAGAGAGACAGAGAGAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0013 a0010c0016t0013	a0010c0016t0013g0006 a0010c0016t0013g0006	1	274	0.0037	28	c.524 others(47): Show c.5242-2614_5242-2613insGTCTCTCTGTCTCTCTGTCTCTCTCT CT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089696	G G	GAGAGAGA others(21): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0065 a0002c0002t0031g0065	1	274	0.0037	28	c.524 others(47): Show c.5242-2616_5242-2615insGTCTCTCTCTCTCTCTCTCTCTCTCT CT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67209033	A A	AAGGGAGA others(21): Show AAGGGAGAGAGGGAGAGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0010 a0001c0001t0045g0010	1	274	0.0037	28	c.248 others(45): Show c.248-5591_248-5590insCCCTCCCTCCCTCTCTCCCTCTCTCCCT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	5/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67209033	A A	AAGGGAGA others(21): Show AAGGGAGAGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA21309.hp1 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0270 a0001c0001t0004g0271	2	274	0.0073	28	c.248 others(45): Show c.248-5591_248-5590insCCCTCCCTCCCTCCCTCCCTCTCTCCCT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	5/32			chr17	TogoVar
HEMK1_chr3_50564522_50601166	50591663	C C	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0123 a0001c0002t0123	a0001c0002t0123g0002 a0001c0002t0123g0002	1	320	0.0031	28	c.11 others(41): Show c.11253_*11280dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	HEMK1	ENSG00000114735.10	transcript	ENST00000232854.9	protein_coding	11/11	11281	INFO_REALIGN_3_PRIME	chr3	TogoVar
HEPHL1_chr11_94016354_94119208	94093971	G G	GATAGATA others(21): Show GATAGATAGATAGATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	368	0.0027	28	c.243 others(45): Show c.2434+334_2434+335insGATAGATAGATATATATATATATATATA	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(21): Show GATAGATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	368	0.0027	28	c.243 others(45): Show c.2434+334_2434+335insGATATATATATATATATATATATATATA	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(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01517.hp1 HG01993.hp2 others(3): Show HG01255.hp2 HG01517.hp1 HG01993.hp2 HG02056.hp2 HG03669.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0034 a0001c0001 a0001c0034	a0001c0001t0001 a0001c0034t0001 a0001c0001t0001 a0001c0034t0001	a0001c0001t0001g0133 a0001c0001t0001g0312 a0001c0001t0001g0319 others(3): Show a0001c0001t0001g0133 a0001c0001t0001g0312 a0001c0001t0001g0319 a0001c0001t0001g0332 a0001c0001t0001g0344 a0001c0034t0001g0330	6	368	0.0163	28	c.243 others(45): Show c.2434+347_2434+374dupTATATATATATATATATATATATATATA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HERC1_chr15_63603618_63838948	63826804	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	216	0.0046	28	c.-27 others(45): Show c.-27+7022_-27+7023insATATATATATATATATATATATATATAT	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	1/77			chr15	TogoVar
HERC4_chr10_67916905_68080283	68059843	T T	TATTATAT others(21): Show TATTATATATCATAATATATATTATAATA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19060.hp1 NA18942.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0131 a0001c0001t0001g0132	2	360	0.0056	28	c.226 others(47): Show c.226+13039_226+13040insTATTATAATATATATTATGATATATA AT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059843	T T	TATTATAT others(21): Show TATTATATATCATAATATATATTATTATA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	360	0.0028	28	c.226 others(47): Show c.226+13039_226+13040insTATAATAATATATATTATGATATATA AT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERPUD2_chr7_35627659_35700135	35674404	T T	TATATATA others(21): Show TATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0388 a0002c0002t0002g0388	1	392	0.0026	28	c.148 others(45): Show c.148-1127_148-1126insCTCTCTCTCTCTATATATATATATATAT	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8			chr7	TogoVar
HERPUD2_chr7_35627659_35700135	35682334	T T	TGTAAATA others(21): Show TGTAAATATAGATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03486.hp1 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0284 a0001c0001t0004g0285	2	392	0.0051	28	c.148 others(45): Show c.148-9057_148-9056insGTGTGTGTGTGTATATATCTATATTTAC	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8			chr7	TogoVar
HES7_chr17_8115592_8129106	8128310	A A	AGATAGAT others(21): Show AGATAGATAGATAGATAGATAGATAGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0008 a0001c0004t0005g0008	1	446	0.0022	28	c.-42 others(39): Show c.-4227_-4226insCATCTATCTATCTATCTATCTATCTATC	HES7	ENSG00000179111.9	transcript	ENST00000541682.7	protein_coding		4205		chr17	TogoVar
HEXD_chr17_82413347_82447645	82433091	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0111 a0002c0002t0001g0111	1	400	0.0025	28	c.283 others(43): Show c.283-566_283-565insAAAAAAAAAAAAAAAAAAAATATATATA	HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr17	TogoVar

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