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
HLA-F_chr6_29718434_29732296	29722801	A A	AGAGGAAG others(20): Show AGAGGAAGAGGAAGAGGAAGAGGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 NA19009.hp1 HG01934.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0002 a0001c0001t0001g0007	2	394	0.0051	27	c.-66 others(36): Show c.-663_-662insGAGGAAGAGGAAGAGGAAGAGGAAGAG	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		632		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722804	A A	AGAAGAAG others(20): Show AGAAGAAGAAGAAGAGGAAGAGGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18970.hp2 NA18964.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0014 a0001c0001t0001g0019	2	379	0.0053	27	c.-66 others(36): Show c.-660_-659insGAAGAAGAAGAAGAGGAAGAGGAAGAG	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		629		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722807	A A	AGAAGAAG others(20): Show AGAAGAAGAGGAAGAGGAAGAGGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	390	0.0026	27	c.-65 others(36): Show c.-657_-656insGAAGAAGAGGAAGAGGAAGAGGAAGAG	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		626		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722810	A A	AGAGGAAG others(20): Show AGAGGAAGAGGAAGAGGAAGAGGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	386	0.0026	27	c.-65 others(36): Show c.-654_-653insGAGGAAGAGGAAGAGGAAGAGGAAGAG	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		623		chr6	TogoVar
HLA-G_chr6_29822825_29836021	29831449	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG00673.hp1 others(21): Show HG00423.hp1 HG00621.hp2 HG00673.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01928.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02273.hp1 HG02523.hp2 HG03834.hp2 NA18943.hp1 NA18961.hp1 NA18981.hp2 NA18988.hp1 NA19007.hp1 NA19060.hp1 NA19075.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0008 a0001c0001t0003g0018 a0001c0001t0003g0003 a0001c0001t0003g0008 a0001c0001t0003g0018	24	48	0.5000	27	c.71 others(36): Show c.710_*711insTTTTTTTTTTTTTTTTTTTTTTTTTTG	HLA-G	ENSG00000204632.13	transcript	ENST00000360323.11	protein_coding		429		chr6	TogoVar
HM13_chr20_31509442_31574543	31535785	T T	TCAAGAAG others(20): Show TCAAGAAGCATCTTGTTAAGTGGTAGAG	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	200	0.0050	27	c.283 others(44): Show c.283-2393_283-2367dupCAAGAAGCATCTTGTTAAGTGGTAGAG	HM13	ENSG00000101294.19	transcript	ENST00000398174.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
HMBS_chr11_119079881_119098549	119086678	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19082.hp1 NA18943.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	2	292	0.0068	27	c.34- others(42): Show c.34-1576_34-1575insAAAAAAATATATATATATATATATATA	HMBS	ENSG00000256269.11	transcript	ENST00000652429.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
HMBS_chr11_119079881_119098549	119086678	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	291	0.0034	27	c.34- others(42): Show c.34-1576_34-1575insAAAAATATATATATATATATATATATA	HMBS	ENSG00000256269.11	transcript	ENST00000652429.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
HMCN2_chr9_130260760_130439123	130278033	T T	TCATCACC others(20): Show TCATCACCACCACCATCATCATCATCAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0064 a0001c0048t0001g0064	1	42	0.0238	27	c.260 others(44): Show c.260-6568_260-6567insTCACCACCACCATCATCATCATCACCA	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	1/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130293279	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0016 a0016	a0016c0166 a0016c0166	a0016c0166t0002 a0016c0166t0002	a0016c0166t0002g0188 a0016c0166t0002g0188	1	11	0.0909	27	c.613 others(44): Show c.613-1555_613-1554insTTTTTTTTTTTTTTTTTTTTTTTTTTT	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	4/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(20): Show CCCTCCCTCCCTCCCTCCCTCCTTCTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0001 a0001c0052t0001	a0001c0052t0001g0095 a0001c0052t0001g0095	1	117	0.0085	27	c.235 others(46): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCTTCTTT C	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130315239	C C	CCCTCCCC others(20): Show CCCTCCCCTCCCCTCCCCTCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0003 a0003	a0003c0041 a0003c0041	a0003c0041t0001 a0003c0041t0001	a0003c0041t0001g0135 a0003c0041t0001g0135	1	219	0.0046	27	c.235 others(46): Show c.2351-4254_2351-4253insTCCCCTCCCCTCCCCTCCCTCCCCTC C	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMGCLL1_chr6_55429373_55584192	55477313	T T	TTATATAT others(20): Show TTATATATTATATTTATATAATATATAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18522.hp1 HG02647.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0221 a0001c0001t0001g0200 a0001c0001t0001g0221	2	331	0.0060	27	c.795 others(46): Show c.795+18105_795+18106insTTATATATTATATAAATATAATATAT A	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
HMGN1_chr21_39337315_39354088	39337385	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	409	0.0024	27	c.57 others(38): Show c.5726_*5727insTATATATATATATATATATATATATAT	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4929		chr21	TogoVar
HMHB1_chr5_143807161_143825716	143820318	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02602.hp1 HG02602.hp2 others(2): Show HG01361.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0124 a0001c0002t0001g0026 a0001c0002t0001g0124	5	24	0.2083	27	c.38- others(40): Show c.38-156_38-130dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	HMHB1	ENSG00000158497.6	transcript	ENST00000289448.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
HMMR_chr5_163455632_163496941	163494876	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	306	0.0033	27	c.37 others(38): Show c.3712_*3713insTTTTTTTTTTTTTTTTTTTTTTTTTTT	HMMR	ENSG00000072571.20	transcript	ENST00000393915.9	protein_coding		2936		chr5	TogoVar
HMSD_chr18_63944301_63966835	63963063	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0104 a0001c0004t0019g0104	1	371	0.0027	27	c.27 others(38): Show c.2708_*2709insTTCTTTCTTTCTTTCTTTCTTTCTTTC	HMSD	ENSG00000221887.6	transcript	ENST00000408945.5	protein_coding		1229		chr18	TogoVar
HNF4A_chr20_44350699_44437845	44385059	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	40	0.0250	27	c.50- others(44): Show c.50-20997_50-20971dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
HNRNPA1L2_chr13_52637431_52648773	52639694	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	244	0.0041	27	c.-27 others(38): Show c.-2799_-2798insAAAAAAAAAAAAAAAAAAAAAAAAAAA	HNRNPA1L2	ENSG00000139675.13	transcript	ENST00000357495.5	protein_coding		2736		chr13	TogoVar
HNRNPAB_chr5_178199533_178216163	178203504	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 NA18977.hp1 HG02523.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	52	0.0385	27	c.-12 others(38): Show c.-1260_-1259insAAAAAAAAAAAAAAAAAAAAAAAAAAA	HNRNPAB	ENSG00000197451.12	transcript	ENST00000358344.8	protein_coding		1028		chr5	TogoVar
HNRNPR_chr1_23299688_23349284	23321163	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0314 a0001c0001t0005g0314	1	31	0.0323	27	c.811 others(42): Show c.811+364_811+365insTTTTTTTTTTTTTTTTTTTTTTTTTTT	HNRNPR	ENSG00000125944.22	transcript	ENST00000302271.11	protein_coding	7/10			chr1	TogoVar
HOMER2_chr15_82843983_82957720	82860949	T T	TGAGAGAG others(20): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02258.hp1 HG03540.hp1 others(3): Show HG01258.hp2 HG02258.hp1 HG03540.hp1 NA18747.hp2 NA18953.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0107 a0001c0001t0001g0111 others(3): Show a0001c0001t0001g0039 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0300	6	196	0.0306	27	c.388 others(44): Show c.388-1815_388-1814insCTCTCTCTCTCTCTCTCTCTCTCTCTC	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	4/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868541	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02055.hp1 HG01175.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0278 a0001c0001t0001g0139 a0001c0001t0001g0278	2	282	0.0071	27	c.295 others(44): Show c.295-4283_295-4282insAAAAATATATATATATATATATATATA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82928940	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18983.hp1 HG01981.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0235 a0001c0001t0001g0194 a0001c0001t0001g0235	2	66	0.0303	27	c.5+2 others(42): Show c.5+23590_5+23591insTTTTTTTTTTTTTTTTTTTTTTTTTTT	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	1/8			chr15	TogoVar
HOMEZ_chr14_23267422_23291132	23281076	T T	TGTGTTTT others(20): Show TGTGTTTTTAAGTATTACTCCTGATCTG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0131 a0002c0001t0001g0131	1	392	0.0026	27	c.41- others(42): Show c.41-3916_41-3890dupCAGATCAGGAGTAATACTTAAAAACAC	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOOK1_chr1_59809949_59881322	59855963	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0130 a0001c0001t0046g0130	1	217	0.0046	27	c.124 others(46): Show c.1243-2465_1243-2464insATATATATATATATATATATATATAT A	HOOK1	ENSG00000134709.13	transcript	ENST00000371208.5	protein_coding	12/21			chr1	TogoVar
HORMAD2_chr22_30075464_30182075	30125216	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	113	0.0088	27	c.819 others(44): Show c.819+3028_819+3029insTTTTTTTTTTTTTTTTTTTTTTTTTTT	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HOXA3_chr7_27102010_27157583	27114827	A A	AATATATA others(20): Show AATATATATTATATATATTATATATATT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	323	0.0031	27	c.-12 others(46): Show c.-120-4068_-120-4067insAATATATATAATATATATAATATATA T	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	4/5			chr7	TogoVar
HOXB13_chr17_48719763_48733750	48731314	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	62	0.0161	27	c.-27 others(38): Show c.-2722_-2721insTTTTTTTTTTTTTTTTTTTTTTTTTTT	HOXB13	ENSG00000159184.8	transcript	ENST00000290295.8	protein_coding		2565		chr17	TogoVar
HOXC4_chr12_54048835_54061030	54058950	G G	GTGTGTGT others(20): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	93	0.0108	27	c.37 others(38): Show c.3745_*3746insTGTGTGTGTGTGTGTGTGTGTGTGTGT	HOXC4	ENSG00000198353.8	transcript	ENST00000430889.3	protein_coding		2921		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(20): Show TTCTCTTCTCTTCTCTTCTTTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 NA18973.hp1 NA18995.hp1 others(1): Show HG01074.hp2 NA18973.hp1 NA18995.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	4	149	0.0268	27	c.26 others(38): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTTTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(20): Show TTCTCTTCTTTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0001 a0001c0001t0055g0001	1	146	0.0068	27	c.26 others(38): Show c.2619_*2620insTCTCTTCTTTCTCTCTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HPCAL1_chr2_10297904_10432604	10399595	C C	CCACCACC others(20): Show CCACCACCACCGCCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	312	0.0032	27	c.-25 others(44): Show c.-25+2685_-25+2686insGCCACCACCACCACCATCACCACCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPGDS_chr4_94293535_94347836	94340305	C C	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTTCTTTCTTTTTCT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	275	0.0036	27	c.-10 others(44): Show c.-10+2489_-10+2490insAGAAAAAGAAAGAAAGAAAGAAAGAAA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPS4_chr22_26445882_26488783	26466719	A A	AATGCTAT others(20): Show AATGCTATACCCAATCTCTCGTTTGTTC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01516.hp1 HG01517.hp1 others(4): Show HG00733.hp1 HG01516.hp1 HG01517.hp1 HG01981.hp2 HG02683.hp2 HG03688.hp2 NA20752.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0013 a0002c0002 a0007c0013	a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 others(1): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 a0007c0013t0002	a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0003g0036 others(2): Show a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0003g0036 a0002c0002t0010g0112 a0007c0013t0002g0037	7	402	0.0174	27	c.670 others(42): Show c.670-484_670-458dupGAACAAACGAGAGATTGGGTATAGCAT	HPS4	ENSG00000100099.22	transcript	ENST00000398145.7	protein_coding	8/13			chr22	TogoVar
HPSE2_chr10_98452077_99240852	98688465	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18946.hp2 NA18968.hp1 others(1): Show HG01081.hp2 NA18946.hp2 NA18968.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0135 a0002c0002t0002g0128 a0002c0002t0002g0133 others(1): Show a0001c0001t0003g0135 a0002c0002t0002g0128 a0002c0002t0002g0133 a0002c0002t0002g0134	4	59	0.0678	27	c.100 others(46): Show c.1004+5434_1004+5435insAAAAAAAAAAAAAAAAAAAAAAAAAA A	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	6/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99132268	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	141	0.0071	27	c.610 others(46): Show c.610+11969_610+11970insCTTTCTTTCTTTCTTTCTTTCTTTCT T	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HS2ST1_chr1_86909635_87114982	86990837	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0108 a0001c0001t0011g0108	1	83	0.0120	27	c.124 others(46): Show c.124+75677_124+75678insATATATATATATATATATATATATAT A	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6			chr1	TogoVar
HS3ST1_chr4_11388150_11433894	11429643	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 NA18747.hp2 NA18961.hp1 others(2): Show HG01169.hp1 NA18747.hp2 NA18961.hp1 NA18978.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 a0001c0002t0004 a0001c0002t0053	a0001c0001t0001g0222 a0001c0001t0006g0306 a0001c0001t0016g0293 others(2): Show a0001c0001t0001g0222 a0001c0001t0006g0306 a0001c0001t0016g0293 a0001c0002t0004g0258 a0001c0002t0053g0262	5	22	0.2273	27	c.-10 others(38): Show c.-1054_-1053insAAAAAAAAAAAAAAAAAAAAAAAAAAA	HS3ST1	ENSG00000002587.10	transcript	ENST00000002596.6	protein_coding		750		chr4	TogoVar
HS3ST2_chr16_22809162_22921338	22818929	C C	CCTTCCTT others(20): Show CCTTCCTTCCTTCCTTCCTTCATTCCTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0044 a0001c0002t0007g0044	1	342	0.0029	27	c.485 others(44): Show c.485+3835_485+3836insTTCCTTCCTTCCTTCCTTCATTCCTTC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST3A1_chr17_13489032_13606929	13512305	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0054 a0001c0001t0008g0054	1	131	0.0076	27	c.600 others(46): Show c.600-15488_600-15487insTTTTTTTTTTTTTTTTTTTTTTTTTT T	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST4_chr16_25686959_26142685	25857919	C C	CCTTCCTT others(20): Show CCTTCCTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0121 a0005c0006t0001g0121	1	49	0.0204	27	c.734 others(48): Show c.734+164771_734+164772insCCTTCTTTCTTTCTTTCTTTCTTT CTT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25903302	G G	GTATATGT others(20): Show GTATATGTATATGTATATATTATATACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	43	0.0233	27	c.734 others(48): Show c.734+210154_734+210155insATGTATATGTATATATTATATACA TAT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25903302	G G	GTGTATGT others(20): Show GTGTATGTATATGTATATATTATATACA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03942.hp2 NA18970.hp2 others(1): Show HG03098.hp2 HG03942.hp2 NA18970.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0033 a0001c0001t0001 a0001c0001t0012 a0001c0001t0033	a0001c0001t0001g0005 a0001c0001t0001g0059 a0001c0001t0012g0025 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0059 a0001c0001t0012g0025 a0001c0001t0033g0129	4	46	0.0870	27	c.734 others(48): Show c.734+210152_734+210153insGTATGTATATGTATATATTATATA CAT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25999884	A A	ATATATAT others(20): Show ATATATATATTATATATTTTATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG00642.hp2 others(16): Show HG00438.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01074.hp2 HG01261.hp2 HG01516.hp2 HG03017.hp2 HG03239.hp2 HG04184.hp1 NA18747.hp2 NA18981.hp2 NA18992.hp1 NA19009.hp1 NA19012.hp1 NA19057.hp2 NA19083.hp1 NA19088.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0020 a0001c0001t0022 a0001c0001t0029 a0001c0001t0036 a0001c0001t0040 a0001c0001t0041	a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0063 others(16): Show a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0063 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0002g0111 a0001c0001t0004g0086 a0001c0001t0004g0097 a0001c0001t0005g0069 a0001c0001t0006g0007 a0001c0001t0015g0093 a0001c0001t0020g0098 a0001c0001t0022g0143 a0001c0001t0029g0026 a0001c0001t0036g0028 a0001c0001t0040g0043 a0001c0001t0041g0055	19	164	0.1159	27	c.735 others(48): Show c.735-135719_735-135718insTATATATTTTATATATATTATATA TAT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST5_chr6_114050596_114348023	114338303	C C	CACATTGT others(20): Show CACATTGTGTATATATATACATACATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01993.hp2 HG02145.hp1 others(4): Show HG00735.hp2 HG01993.hp2 HG02145.hp1 HG02258.hp2 HG02602.hp1 HG03209.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 others(2): Show a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0029 a0001c0002t0010	a0001c0001t0007g0040 a0001c0001t0007g0046 a0001c0001t0011g0042 others(4): Show a0001c0001t0007g0040 a0001c0001t0007g0046 a0001c0001t0011g0042 a0001c0001t0015g0038 a0001c0001t0015g0039 a0001c0001t0029g0043 a0001c0002t0010g0041	7	204	0.0343	27	c.-33 others(46): Show c.-339+3865_-339+3891dupATATGTATGTATATATATACACAATG T	HS3ST5	ENSG00000249853.9	transcript	ENST00000312719.10	protein_coding	1/4			chr6	TogoVar
HS6ST2_chrX_132621015_132963629	132637853	A A	ATTATATA others(20): Show ATTATATATAATATATTATATATAATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	196	0.0051	27	c.106 others(46): Show c.1068-8761_1068-8760insATATTATATATAATATATTATATATA A	HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	4/4			chrX	TogoVar
HS6ST3_chr13_96085107_96844562	96304712	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	101	0.0099	27	c.707 others(48): Show c.707+213145_707+213146insCTTTCTTTCTTTCTTTCTTTCTTT CTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HSCB_chr22_28737039_28762510	28750945	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	112	0.0089	27	c.569 others(42): Show c.569-272_569-271insTTTTTTTTTTTTTTTTTTTTTTTTTTT	HSCB	ENSG00000100209.11	transcript	ENST00000216027.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
HSD17B14_chr19_48808018_48841491	48816779	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	151	0.0066	27	c.370 others(44): Show c.370-1639_370-1638insGAAAGAAAGAAAGAAAGAAAGAAAGAA	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar

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