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
GTDC1_chr2_143933068_144337512	144108635	C C	CTCAATTA others(23): Show CTCAATTAAAAAAAAAAAAAAGAAAACCCCA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02559.hp1 HG02622.hp1 others(9): Show HG00735.hp2 HG02559.hp1 HG02622.hp1 HG02717.hp2 HG02896.hp2 HG02922.hp2 HG03195.hp1 HG03540.hp2 HG03579.hp1 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0014 others(2): Show a0001c0001 a0001c0003 a0001c0014 a0002c0005 a0006c0013	a0001c0001t0001 a0001c0001t0005 a0001c0001t0020 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0020 a0001c0003t0003 a0001c0003t0018 a0001c0014t0003 a0002c0005t0001 a0006c0013t0045	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 others(9): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0005g0090 a0001c0001t0020g0080 a0001c0003t0003g0108 a0001c0003t0018g0084 a0001c0014t0003g0089 a0002c0005t0001g0029 a0006c0013t0045g0101	12	124	0.0968	30	c.521 others(49): Show c.521+33217_521+33246dupTGGGGTTTTCTTTTTTTTTTTTTTAA TTGA	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144108635	C C	CTCAATTA others(23): Show CTCAATTAAAACAAAAAAAAAGAAAACCCCA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03453.hp2 HG02647.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0057 a0001c0001t0008g0104 a0001c0001t0008g0057 a0001c0001t0008g0104	2	124	0.0161	30	c.521 others(49): Show c.521+33246_521+33247insTGGGGTTTTCTTTTTTTTTGTTTTAA TTGA	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144108646	A A	CAAAAAAA others(23): Show CAAAAAAAAAGAAAACCCCATCAATTAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03225.hp1 HG02055.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0040 a0001c0001t0008g0056 a0001c0001t0008g0040 a0001c0001t0008g0056	2	124	0.0161	30	c.521 others(49): Show c.521+33236_521+33237insTTTTAATTGATGGGGTTTTCTTTTTT TTTG	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144133231	T T	TATATTTA others(23): Show TATATTTATACATTATATATAAATATAAATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0034 a0001c0001t0028g0034	1	124	0.0081	30	c.521 others(47): Show c.521+8650_521+8651insTATTTATATTTATATATAATGTATAAAT AT	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144136395	A A	AAAAGGAA others(23): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp2 HG02109.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0024 a0001c0001t0005 a0001c0001t0024	a0001c0001t0005g0090 a0001c0001t0024g0123 a0001c0001t0005g0090 a0001c0001t0024g0123	2	124	0.0161	30	c.521 others(47): Show c.521+5457_521+5486dupCCTTTCCTTTCCTTTCCTTTCCTTTCCT TT	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144262978	A A	AGAGGGGA others(23): Show AGAGGGGAGGGGAGGGGAAGGGAGGACAGAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03540.hp2 HG02976.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0107 a0001c0003t0003g0108 a0001c0003t0003g0107 a0001c0003t0003g0108	2	124	0.0161	30	c.-15 others(51): Show c.-150-27271_-150-27242dupCTCTGTCCTCCCTTCCCCTCCCCT CCCCTC	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	1/11			chr2	TogoVar
GTF2A1_chr14_81170452_81225959	81211875	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0059 a0001c0001t0015g0059	1	350	0.0029	30	c.132 others(47): Show c.132+4508_132+4537dupTATATATATATATATATATATATATATA TA	GTF2A1	ENSG00000165417.12	transcript	ENST00000553612.6	protein_coding	2/8			chr14	TogoVar
GTF2A2_chr15_59633062_59662515	59639076	C C	CTCTTCAA others(23): Show CTCTTCAAAAGCAATGAATAACAGAAGATGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0119 a0001c0001t0014g0119	1	436	0.0023	30	c.26 others(37): Show c.26_*55dupCCATCTTCTGTTATTCATTGCTTTTGAAGA	GTF2A2	ENSG00000140307.11	transcript	ENST00000396060.7	protein_coding	5/5	55		chr15	TogoVar
GTF2F2_chr13_45115510_45289893	45191224	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03579.hp2 HG03098.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0067 a0001c0001t0001g0069	2	210	0.0095	30	c.305 others(49): Show c.305-16199_305-16198insAAAAAAAAAATATATATATATATATA TATA	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45191224	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	210	0.0048	30	c.305 others(49): Show c.305-16198_305-16169dupTATATATATATATATATATATATATA TATA	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2H5_chr6_158163350_158204344	158175044	G G	GTGTGTAT others(23): Show GTGTGTATATATGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18963.hp1 NA19065.hp2 others(1): Show NA18945.hp2 NA18963.hp1 NA19065.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0021 a0001c0001t0047 a0001c0001t0005 a0001c0001t0021 a0001c0001t0047	a0001c0001t0005g0187 a0001c0001t0021g0136 a0001c0001t0021g0137 others(1): Show a0001c0001t0005g0187 a0001c0001t0021g0136 a0001c0001t0021g0137 a0001c0001t0047g0141	4	384	0.0104	30	c.35+ others(45): Show c.35+4507_35+4508insGTGTATATATGTGTGTGTGTGTGTGTGTAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158175044	G G	GTGTGTGT others(23): Show GTGTGTGTGTATATGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0105 a0001c0001t0043 a0001c0001t0105	a0001c0001t0043g0009 a0001c0001t0105g0009 a0001c0001t0043g0009 a0001c0001t0105g0009	3	384	0.0078	30	c.35+ others(45): Show c.35+4507_35+4508insGTGTGTGTATATGTGTGTGTGTGTGTGTAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158175044	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTATGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02965.hp1 HG03471.hp2 HG02630.hp2 HG02965.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0058 a0001c0001t0011g0059 a0001c0001t0011g0061 a0001c0001t0011g0058 a0001c0001t0011g0059 a0001c0001t0011g0061	3	384	0.0078	30	c.35+ others(45): Show c.35+4507_35+4508insGTGTGTGTGTGTATGTGTGTGTGTGTGTAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2I_chr7_74652718_74765692	74680099	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	174	0.0058	30	c.-5- others(45): Show c.-5-9024_-5-9023insAAAAAAAAAATATATATATATATATATATA	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF3C1_chr16_27455613_27554913	27525185	T T	TAAAAGAA others(23): Show TAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02922.hp1 HG03130.hp2 others(2): Show HG01109.hp1 HG02922.hp1 HG03130.hp2 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0031 a0001c0001t0003g0002 a0001c0001t0003g0031	5	220	0.0227	30	c.973 others(47): Show c.973+3412_973+3413insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TT	GTF3C1	ENSG00000077235.18	transcript	ENST00000356183.9	protein_coding	6/36			chr16	TogoVar
GTF3C2_chr2_27320854_27361764	27358755	T T	TCTCTACC others(23): Show TCTCTACCTCTCTACCTCTCTACCTCTCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	286	0.0035	30	c.-20 others(41): Show c.-2042_-2041insGTAGAGAGGTAGAGAGGTAGAGAGGTAGAG	GTF3C2	ENSG00000115207.15	transcript	ENST00000264720.8	protein_coding		1992		chr2	TogoVar
GUCA1C_chr3_108902792_108958879	108912122	A A	AATAATAA others(23): Show AATAATAATAATAATAATAATAATAATAATC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19087.hp1 NA18944.hp1 NA19087.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0045 a0003c0003t0001g0054 a0002c0002t0001g0045 a0003c0003t0001g0054	2	374	0.0054	30	c.443 others(47): Show c.443-3914_443-3913insGATTATTATTATTATTATTATTATTATT AT	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	3/3			chr3	TogoVar
GUCY1A2_chr11_106669019_107023476	106909355	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02451.hp2 NA18522.hp2 others(1): Show HG00099.hp2 HG02451.hp2 NA18522.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0052 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0052 a0001c0002t0002	a0001c0001t0002g0105 a0001c0001t0003g0062 a0001c0001t0052g0117 others(1): Show a0001c0001t0002g0105 a0001c0001t0003g0062 a0001c0001t0052g0117 a0001c0002t0002g0201	4	256	0.0156	30	c.120 others(51): Show c.1206+30075_1206+30104dupCACACACACACACACACACACACA CACACA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	4/7			chr11	TogoVar
GXYLT1_chr12_42076845_42149874	42098760	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00733.hp2 HG01168.hp2 others(3): Show HG00609.hp1 HG00733.hp2 HG01168.hp2 HG01433.hp2 HG02055.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0009 a0001c0002t0003 a0001c0002t0047 others(1): Show a0001c0001t0009 a0001c0002t0003 a0001c0002t0047 a0001c0003t0001	a0001c0001t0009g0254 a0001c0002t0003g0101 a0001c0002t0003g0160 others(3): Show a0001c0001t0009g0254 a0001c0002t0003g0101 a0001c0002t0003g0160 a0001c0002t0047g0185 a0001c0003t0001g0148 a0001c0003t0001g0219	6	398	0.0151	30	c.865 others(45): Show c.865-728_865-727insATATATATATATATATATATATATATATAT	GXYLT1	ENSG00000151233.11	transcript	ENST00000398675.8	protein_coding	5/7			chr12	TogoVar
GYG1_chr3_148986540_149036775	149022498	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0041 a0001c0003t0041	a0001c0003t0041g0339 a0001c0003t0041g0339	1	414	0.0024	30	c.609 others(47): Show c.609-1537_609-1536insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	GYG1	ENSG00000163754.18	transcript	ENST00000345003.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCTC others(23): Show CCCTCCTCCCTCCTCCCTCCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	422	0.0024	30	c.-46 others(41): Show c.-4694_-4693insCCTCCTCCCTCCTCCCTCCCTTCCTTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H2AC18_chr1_149837218_149847750	149837562	C C	CAGATGGG others(23): Show CAGATGGGGCTAATGAAGGTGTCTTCCAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	320	0.0031	30	c.47 others(41): Show c.4714_*4743dupTCCTGGAAGACACCTTCATTAGCCCCATCT	H2AC18	ENSG00000288825.1	transcript	ENST00000369159.3	protein_coding		4655		chr1	TogoVar
H2AC18_chr1_149837218_149847750	149842086	A A	ACCCCGCC others(23): Show ACCCCGCCCCGCCCCGCCCCGCCCCGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	320	0.0031	30	c.21 others(39): Show c.219_*220insCGGGGCGGGGCGGGGCGGGGCGGGGCGGGG	H2AC18	ENSG00000288825.1	transcript	ENST00000369159.3	protein_coding		131		chr1	TogoVar
H2AC18_chr1_149837218_149847750	149842097	C C	CCCCGTCC others(23): Show CCCCGTCCCGTCCCGTCCCGTCCCGTCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	320	0.0031	30	c.20 others(39): Show c.208_*209insACGGGACGGGACGGGACGGGACGGGACGGG	H2AC18	ENSG00000288825.1	transcript	ENST00000369159.3	protein_coding		120		chr1	TogoVar
H2AC18_chr1_149837218_149847750	149842102	C C	CCCCGCCC others(23): Show CCCCGCCCCGCCCCGCCCCGCCCCGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	320	0.0031	30	c.20 others(39): Show c.203_*204insACGGGGCGGGGCGGGGCGGGGCGGGGCGGG	H2AC18	ENSG00000288825.1	transcript	ENST00000369159.3	protein_coding		115		chr1	TogoVar
H2AC19_chr1_149846061_149856594	149856219	T T	TCCCCATC others(23): Show TCCCCATCTTCCTGGAAGACACCTTCATTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	328	0.0031	30	c.47 others(41): Show c.4713_*4714insCCCCATCTTCCTGGAAGACACCTTCATTAG	H2AC19	ENSG00000288859.1	transcript	ENST00000607355.3	protein_coding		4626		chr1	TogoVar
H2AC4_chr6_26028092_26038618	26031152	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01074.hp2 HG02015.hp1 others(6): Show HG00408.hp2 HG01074.hp2 HG02015.hp1 HG02647.hp1 HG04204.hp1 NA18747.hp1 NA18980.hp2 NA19005.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0007g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0007g0000 a0001c0002t0001g0000	9	406	0.0222	30	c.20 others(41): Show c.2023_*2024insTATATATATATATATATATATATATATATA	H2AC4	ENSG00000278463.2	transcript	ENST00000615868.2	protein_coding		1939		chr6	TogoVar
H3-3A_chr1_226057716_226077019	226074979	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	434	0.0023	30	c.35 others(41): Show c.3500_*3501insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	H3-3A	ENSG00000163041.13	transcript	ENST00000366815.10	protein_coding		2961		chr1	TogoVar
H3C14_chr1_149835687_149846208	149837562	C C	CAGATGGG others(23): Show CAGATGGGGCTAATGAAGGTGTCTTCCAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	302	0.0033	30	c.31 others(41): Show c.3155_*3184dupTCCTGGAAGACACCTTCATTAGCCCCATCT	H3C14	ENSG00000203811.2	transcript	ENST00000369158.2	protein_coding		3124		chr1	TogoVar
H3C14_chr1_149835687_149846208	149842097	C C	CCCCGTCC others(23): Show CCCCGTCCCGTCCCGTCCCGTCCCGTCCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	302	0.0033	30	c.-94 others(39): Show c.-941_-940insACGGGACGGGACGGGACGGGACGGGACGGG	H3C14	ENSG00000203811.2	transcript	ENST00000369158.2	protein_coding		890		chr1	TogoVar
H3C15_chr1_149847608_149858125	149856219	T T	TCCCCATC others(23): Show TCCCCATCTTCCTGGAAGACACCTTCATTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	332	0.0030	30	c.31 others(41): Show c.3154_*3155insCCCCATCTTCCTGGAAGACACCTTCATTAG	H3C15	ENSG00000203852.4	transcript	ENST00000403683.2	protein_coding		3095		chr1	TogoVar
H3C2_chr6_26026589_26037099	26031152	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01074.hp2 HG02015.hp1 others(6): Show HG00408.hp2 HG01074.hp2 HG02015.hp1 HG02647.hp1 HG04204.hp1 NA18747.hp1 NA18980.hp2 NA19005.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	9	396	0.0227	30	c.49 others(39): Show c.497_*498insTATATATATATATATATATATATATATATA	H3C2	ENSG00000286522.2	transcript	ENST00000621411.3	protein_coding		436		chr6	TogoVar
H3C4_chr6_26191784_26202286	26198527	T T	TTATCTAG others(23): Show TTATCTAGTATTATCCAAAAGCAAAACAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	396	0.0025	30	c.-12 others(41): Show c.-1278_-1277insTTTTGTTTTGCTTTTGGATAATACTAGATA	H3C4	ENSG00000197409.8	transcript	ENST00000356476.3	protein_coding		1242		chr6	TogoVar
H3Y1_chr5_17649868_17660849	17651922	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	376	0.0027	30	c.32 others(41): Show c.3205_*3206insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	H3Y1	ENSG00000269466.4	transcript	ENST00000598383.3	protein_coding		2945		chr5	TogoVar
H3Y2_chr5_17485967_17497076	17493385	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00597.hp2 others(54): Show HG00323.hp1 HG00423.hp1 HG00597.hp2 HG00621.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01169.hp2 HG01261.hp1 HG01516.hp1 HG01517.hp2 HG02155.hp1 HG02258.hp2 HG03130.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18941.hp1 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18956.hp2 NA18959.hp1 NA18962.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18983.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp2 NA19055.hp1 NA19060.hp2 NA19065.hp2 NA19070.hp2 NA19079.hp1 NA19081.hp2 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0005	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0002t0001g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0002t0001g0000 a0001c0002t0005g0000	57	400	0.1425	30	c.-16 others(41): Show c.-1618_-1617insATATATATATATATATATATATATATATAT	H3Y2	ENSG00000268799.4	transcript	ENST00000600799.3	protein_coding		1310		chr5	TogoVar
H4C14_chr1_149827657_149838052	149827821	T T	TTTTCTTT others(23): Show TTTTCTTTCTTTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	236	0.0042	30	c.-48 others(41): Show c.-4864_-4863insTTTCTTTCTTTTTCTTTCTTTCTTTCTTTC	H4C14	ENSG00000270882.3	transcript	ENST00000578186.3	protein_coding		4835		chr1	TogoVar
H4C14_chr1_149827657_149838052	149827865	T T	TTTCTTTC others(23): Show TTTCTTTCTTTCTTTCTTTCTTTCTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01993.hp1 HG00408.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	236	0.0085	30	c.-48 others(41): Show c.-4820_-4819insTTCTTTCTTTCTTTCTTTCTTTCTTCTTTC	H4C14	ENSG00000270882.3	transcript	ENST00000578186.3	protein_coding		4791		chr1	TogoVar
H4C14_chr1_149827657_149838052	149837562	C C	CAGATGGG others(23): Show CAGATGGGGCTAATGAAGGTGTCTTCCAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	236	0.0042	30	c.45 others(41): Show c.4566_*4567insAGATGGGGCTAATGAAGGTGTCTTCCAGGA	H4C14	ENSG00000270882.3	transcript	ENST00000578186.3	protein_coding		4511		chr1	TogoVar
H4C2_chr6_26021896_26032283	26031152	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG01074.hp2 HG02015.hp2 others(6): Show HG00408.hp1 HG01074.hp2 HG02015.hp2 HG02647.hp1 HG04204.hp1 NA18747.hp1 NA18980.hp2 NA19005.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0000 a0001c0002t0002g0000 a0001c0001t0003g0000 a0001c0002t0002g0000	9	400	0.0225	30	c.-39 others(41): Show c.-3901_-3900insTATATATATATATATATATATATATATATA	H4C2	ENSG00000278705.3	transcript	ENST00000377745.5	protein_coding		3870		chr6	TogoVar
HACD2_chr3_123486554_123590053	123534798	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03471.hp2 HG02451.hp1 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0339 a0001c0003t0010g0340 a0001c0003t0010g0339 a0001c0003t0010g0340	2	350	0.0057	30	c.293 others(47): Show c.293-6325_293-6324insCACACACACACACACACACACACACACA CA	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	3/6			chr3	TogoVar
HACD3_chr15_65525463_65583349	65527131	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01123.hp1 others(19): Show HG01070.hp1 HG01071.hp1 HG01123.hp1 HG01243.hp1 HG01978.hp2 HG02451.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03834.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0002t0002	a0001c0001t0002g0015 a0001c0001t0002g0197 a0001c0001t0002g0209 others(18): Show a0001c0001t0002g0015 a0001c0001t0002g0197 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0252 a0001c0001t0009g0028 a0001c0001t0009g0029 a0001c0001t0011g0173 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0237 a0001c0002t0002g0254	22	328	0.0671	30	c.-35 others(41): Show c.-3501_-3500insAAAATAAAATAAAATAAAATAAAATAAAAT	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding		3331		chr15	TogoVar
HACE1_chr6_104723094_104864919	104831918	A A	AAGAAGAG others(23): Show AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01255.hp1 HG01928.hp1 others(6): Show HG00323.hp2 HG01255.hp1 HG01928.hp1 HG02155.hp1 HG02273.hp1 HG02970.hp1 HG03490.hp2 HG03492.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0246 a0001c0001t0001g0267 a0001c0001t0001g0296 others(6): Show a0001c0001t0001g0246 a0001c0001t0001g0267 a0001c0001t0001g0296 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0050 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129	9	346	0.0260	30	c.534 others(47): Show c.534+1094_534+1123dupCTTCTCTTCTCTTCTCTTCTCTTCTCTT CT	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	6/23			chr6	TogoVar
HACL1_chr3_15555699_15606569	15592398	A A	ACATGTAG others(23): Show ACATGTAGACACACGTATACACACACGTATG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02976.hp2 HG03195.hp1 others(3): Show HG02970.hp1 HG02976.hp2 HG03195.hp1 NA19082.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003	a0001c0002t0001g0333 a0001c0003t0001g0044 a0001c0003t0001g0045 others(3): Show a0001c0002t0001g0333 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0003g0054 a0001c0003t0003g0055	6	428	0.0140	30	c.228 others(45): Show c.228-748_228-719dupCATACGTGTGTGTATACGTGTGTCTACATG	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HADHB_chr2_26239939_26295465	26266871	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	290	0.0035	30	c.210 others(47): Show c.210-3059_210-3058insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	HADHB	ENSG00000138029.14	transcript	ENST00000317799.10	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAGH_chr16_1802629_1831825	1804244	C C	CTATATAT others(23): Show CTATATATATGTATGTGTGTGTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0145 a0001c0004t0007g0145	1	436	0.0023	30	c.50 others(41): Show c.5038_*5039insTATATATATACACACACATACATATATATA	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding		3384		chr16	TogoVar
HAO1_chr20_7877985_7945458	7936503	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0315 a0001c0001t0002g0315	1	348	0.0029	30	c.138 others(47): Show c.138-1898_138-1869dupACACACACACACACACACACACACACAC AC	HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	1/7			chr20	TogoVar
HAO2_chr1_119363785_119399130	119394614	C C	CATATATA others(23): Show CATATATATATACTCATATATATATACTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00642.hp1 HG01069.hp1 others(66): Show HG00544.hp2 HG00642.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01993.hp1 HG02027.hp2 HG02074.hp2 HG02083.hp2 HG02135.hp2 HG02451.hp1 HG02683.hp1 HG02698.hp1 HG03239.hp2 HG03669.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18939.hp1 NA18944.hp1 NA18949.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18973.hp2 NA18974.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19054.hp1 NA19055.hp2 NA19059.hp1 NA19063.hp2 NA19066.hp1 NA19072.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp2 NA19080.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0011 a0005c0009 others(1): Show a0001c0001 a0001c0011 a0005c0009 a0006c0008	a0001c0001t0001 a0001c0001t0004 a0001c0011t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0011t0001 a0005c0009t0001 a0006c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0035 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0058 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0288 a0001c0001t0004g0001 a0001c0001t0004g0255 a0001c0001t0004g0261 a0001c0001t0004g0269 a0001c0011t0001g0001 a0005c0009t0001g0258 a0006c0008t0001g0264	69	428	0.1612	30	c.77 others(39): Show c.774_*775insATATATATATACTCATATATATATACTTAT	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding		485		chr1	TogoVar
HAP1_chr17_41717640_41739643	41730053	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03130.hp2 NA19030.hp1 others(1): Show HG01891.hp2 HG03130.hp2 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0013 a0001c0001t0001g0192 a0001c0001t0010g0314 a0001c0001t0001g0013 a0001c0001t0001g0192 a0001c0001t0010g0314	4	374	0.0107	30	c.106 others(49): Show c.1069+1439_1069+1440insTTCTTTCTTTCCTTCTCTCTCTCTCT CTCT	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	6/10			chr17	TogoVar
HAPLN1_chr5_83632805_83725855	83661197	C C	CATCTATA others(23): Show CATCTATATCTATATCTATATCTATATCTAT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	372	0.0027	30	c.101 others(47): Show c.101-8374_101-8373insATAGATATAGATATAGATATAGATATAG AT	HAPLN1	ENSG00000145681.11	transcript	ENST00000274341.9	protein_coding	2/4			chr5	TogoVar
HAPSTR1_chr16_9086644_9126635	9087606	T T	TCCCCCCC others(23): Show TCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	398	0.0025	30	c.-44 others(41): Show c.-4439_-4438insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	HAPSTR1	ENSG00000182831.12	transcript	ENST00000327827.12	protein_coding		4037		chr16	TogoVar

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