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
GRSF1_chr4_70810783_70844890	70840012	C C	CTTGGGCG others(35): Show CTTGGGCGGGGCTGCCCATGGTTTGGGCGGGGCTGCCCATGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00597.hp2 others(55): Show HG00140.hp1 HG00323.hp2 HG00597.hp2 HG00642.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01975.hp2 HG02004.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18950.hp2 NA18962.hp1 NA18963.hp1 NA18967.hp1 NA18987.hp2 NA18999.hp2 NA19004.hp2 NA19007.hp1 NA19030.hp2 NA19054.hp1 NA19057.hp1 NA19063.hp2 NA19064.hp2 NA19080.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0009 others(1): Show a0001c0001 a0001c0005 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0040 a0001c0001t0042 a0001c0005t0001 a0001c0009t0001 a0002c0002t0010	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(47): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0076 a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0135 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0003g0044 a0001c0001t0003g0061 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0004g0077 a0001c0001t0004g0092 a0001c0001t0005g0027 a0001c0001t0005g0107 a0001c0001t0005g0172 a0001c0001t0006g0008 a0001c0001t0007g0013 a0001c0001t0007g0148 a0001c0001t0007g0155 a0001c0001t0008g0036 a0001c0001t0009g0017 a0001c0001t0009g0018 a0001c0001t0009g0059 a0001c0001t0011g0020 a0001c0001t0012g0054 a0001c0001t0012g0055 a0001c0001t0040g0195 a0001c0001t0042g0058 a0001c0005t0001g0140 a0001c0009t0001g0221 a0002c0002t0010g0225	58	124	0.4677	42	c.-18 others(51): Show c.-186_-185insACCATGGGCAGCCCCGCCCAAACCATGGGCAGCCCC GCCCAA	GRSF1	ENSG00000132463.15	transcript	ENST00000254799.11	protein_coding		123		chr4	TogoVar
GRXCR1_chr4_42887713_43035658	42987241	A A	AATATATA others(35): Show AATATATATATATAATATATATATATATATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	330	0.0030	42	c.627 others(61): Show c.627+24114_627+24115insTATATAATATATATATATATATATAT AATATATATATATATA	GRXCR1	ENSG00000215203.3	transcript	ENST00000399770.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
GSDMD_chr8_143553346_143568062	143557379	C C	CGAAGGAT others(35): Show CGAAGGATGCTGCCGCTATGGCGAAGGATGCTGCCGCTATGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 NA18975.hp2 NA19007.hp1 others(1): Show HG00423.hp1 NA18975.hp2 NA19007.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	4	376	0.0106	42	c.-10 others(53): Show c.-1077_-1076insGAAGGATGCTGCCGCTATGGCGAAGGATGCTGCC GCTATGAT	GSDMD	ENSG00000104518.11	transcript	ENST00000262580.9	protein_coding		966		chr8	TogoVar
GSDMD_chr8_143553346_143568062	143557417	G G	GTGGCGAA others(35): Show GTGGCGAAGGATGCTGCCGCTATGACGAAGGATGCTGCCGCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18950.hp1 NA19081.hp2 NA18747.hp2 NA18950.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	352	0.0085	42	c.-10 others(53): Show c.-1039_-1038insTGGCGAAGGATGCTGCCGCTATGACGAAGGATGC TGCCGCTT	GSDMD	ENSG00000104518.11	transcript	ENST00000262580.9	protein_coding		928		chr8	TogoVar
GSDMD_chr8_143553346_143568062	143557430	C C	CTGCCGCT others(35): Show CTGCCGCTGTGACGACGGATGCTGCCGCTATGATGAAGGATGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	1	413	0.0024	42	c.-10 others(53): Show c.-1026_-1025insTGCCGCTGTGACGACGGATGCTGCCGCTATGATG AAGGATGA	GSDMD	ENSG00000104518.11	transcript	ENST00000262580.9	protein_coding		915		chr8	TogoVar
GSDMD_chr8_143553346_143568062	143557434	C C	CGCTGTGA others(35): Show CGCTGTGACGACGGATGCTGCCGCTATGATGAAGGATGCTGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02818.hp1 HG03041.hp1 others(4): Show HG01123.hp1 HG02818.hp1 HG03041.hp1 HG03486.hp1 HG03540.hp1 NA18974.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0002c0005t0001 a0001c0001t0001 a0001c0002t0001 a0002c0005t0001	a0001c0001t0001g0002 a0001c0002t0001g0003 a0002c0005t0001g0010 a0001c0001t0001g0002 a0001c0002t0001g0003 a0002c0005t0001g0010	7	355	0.0197	42	c.-10 others(53): Show c.-1022_-1021insGCTGTGACGACGGATGCTGCCGCTATGATGAAGG ATGCTGCT	GSDMD	ENSG00000104518.11	transcript	ENST00000262580.9	protein_coding		911		chr8	TogoVar
GSDMD_chr8_143553346_143568062	143557454	C C	CCGCTATG others(35): Show CCGCTATGATGAAGGATGCTGCTGCTGTGACGACGGATGCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02922.hp1 HG02970.hp1 others(2): Show HG02723.hp2 HG02922.hp1 HG02970.hp1 HG03195.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	5	411	0.0122	42	c.-10 others(53): Show c.-1002_-1001insCGCTATGATGAAGGATGCTGCTGCTGTGACGACG GATGCTGT	GSDMD	ENSG00000104518.11	transcript	ENST00000262580.9	protein_coding		891		chr8	TogoVar
GSG1L2_chr17_9795608_9827079	9825909	G G	GCTCTAGA others(35): Show GCTCTAGACCGCCTCAGACACTCTCGGCGCAGCGTGGAGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0223 a0001c0002t0002g0223	1	472	0.0021	42	c.-38 others(53): Show c.-3880_-3839dupTCCTCTCCACGCTGCGCCGAGAGTGTCTGAGGCG GTCTAGAG	GSG1L2	ENSG00000214978.8	transcript	ENST00000399363.5	protein_coding		3831		chr17	TogoVar
GSG1L_chr16_27782528_28068714	27979661	A A	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03669.hp2 HG02040.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0133 a0001c0001t0001g0004 a0001c0001t0001g0133	2	196	0.0102	42	c.350 others(61): Show c.350-16459_350-16458insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	1/6			chr16	TogoVar
GSS_chr20_34923432_34960806	34950013	T T	TCTCACAC others(35): Show TCTCACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02818.hp2 HG02922.hp2 others(2): Show HG00642.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0014 a0001c0001t0001g0057 a0001c0001t0001g0065	5	198	0.0253	42	c.129 others(59): Show c.129+1710_129+1711insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGAG	GSS	ENSG00000100983.12	transcript	ENST00000651619.1	protein_coding	2/12			chr20	TogoVar
GSS_chr20_34923432_34960806	34950020	C C	CACACACA others(35): Show CACACACACACACACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01074.hp1 HG01168.hp1 others(11): Show HG00558.hp1 HG01074.hp1 HG01168.hp1 HG01515.hp2 HG01993.hp1 HG02080.hp2 HG02738.hp1 HG03710.hp1 HG03831.hp2 HG04199.hp2 NA18946.hp1 NA18967.hp1 NA18984.hp1 NA19007.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0005c0006t0001 a0001c0001t0001 a0001c0001t0002 a0005c0006t0001	a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0068 others(7): Show a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0002g0026 a0005c0006t0001g0079	14	296	0.0473	42	c.129 others(59): Show c.129+1703_129+1704insATGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	GSS	ENSG00000100983.12	transcript	ENST00000651619.1	protein_coding	2/12			chr20	TogoVar
GSTA4_chr6_52972953_53000284	52973917	T T	TCAGCTGC others(35): Show TCAGCTGCCAGTGCAGCTAGAATATAAAACAGGCAGAAAAATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	322	0.0031	42	c.45 others(53): Show c.4552_*4553insCATTTTTCTGCCTGTTTTATATTCTAGCTGCACT GGCAGCTG	GSTA4	ENSG00000170899.11	transcript	ENST00000370963.9	protein_coding		4035		chr6	TogoVar
GTDC1_chr2_143933068_144337512	144182786	T T	TATATATA others(35): Show TATATATATATATTATATATATAATATATATATTATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	116	0.0086	42	c.179 others(61): Show c.179+25775_179+25816dupTATATATATAATATATATATTATATA TATAATATATATATAT	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	4/11			chr2	TogoVar
GTF2F2_chr13_45115510_45289893	45228283	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	101	0.0099	42	c.386 others(61): Show c.386+20794_386+20795insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2H5_chr6_158163350_158204344	158169445	A A	AATATGTA others(35): Show AATATGTATATTATATATTATATATAATATTATATTGTATATT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0128 a0001c0001t0005g0128	1	381	0.0026	42	c.-34 others(59): Show c.-34-1025_-34-1024insATATGTATATTATATATTATATATAATA TTATATTGTATATT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2			chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169507	T T	TTGTATAT others(35): Show TTGTATATTATATATAATATACAGTATATTATATATAATATAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19062.hp1 HG00423.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0196 a0001c0001t0002g0197	2	300	0.0067	42	c.-34 others(57): Show c.-34-942_-34-901dupCAGTATATTATATATAATATACTGTATATT ATATATAATATA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169564	A A	AATATACA others(35): Show AATATACAGTATATTATATATGATATATTGTATATTACATATG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0188 a0001c0001t0045g0188	1	375	0.0027	42	c.-34 others(57): Show c.-34-901_-34-900insCAGTATATTATATATGATATATTGTATATT ACATATGATATA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169745	T T	TTGTATAT others(35): Show TTGTATATTATATAATATATTGTATATTATATATTGTATATTA	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18971.hp2 NA19056.hp2 HG02155.hp2 NA18971.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166	3	248	0.0121	42	c.-34 others(57): Show c.-34-724_-34-723insGTATATTATATAATATATTGTATATTATAT ATTGTATATTAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169766	A A	ATATATTA others(35): Show ATATATTATATATAATATATTGTATATTATATATTATATATTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0046 a0001c0001t0040g0046	1	363	0.0028	42	c.-34 others(57): Show c.-34-699_-34-698insTATATATAATATATTGTATATTATATATTA TATATTGTATAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169772	A A	AATATATT others(35): Show AATATATTGTATATTATATATAATATATTGTATATTATATATT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0187 a0001c0001t0045g0187	1	211	0.0047	42	c.-34 others(57): Show c.-34-678_-34-677insAATATATTGTATATTATATATTATATATTG TATATTATATAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158175044	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0187 a0001c0001t0045g0187	1	219	0.0046	42	c.35+ others(57): Show c.35+4507_35+4508insGTGTGTGTGTGTGTGTGTGTGTGTATGTGT GTGTGTGTGTAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2I_chr7_74652718_74765692	74762233	T T	TCCAGTAA others(35): Show TCCAGTAAAATCTTCGTTAGCCCGGTATTCTGGATTGAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0008 a0002c0003t0001g0008	1	172	0.0058	42	c.27 others(53): Show c.2703_*2704insCCAGTAAAATCTTCGTTAGCCCGGTATTCTGGAT TGAAAAAG	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding		1542		chr7	TogoVar
GUCY1A2_chr11_106669019_107023476	106698119	A A	ATTTTTTT others(35): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0025 a0001c0006t0025	a0001c0006t0025g0200 a0001c0006t0025g0200	1	99	0.0101	42	c.199 others(63): Show c.1992-10364_1992-10363insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	7/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106944215	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	1	60	0.0167	42	c.488 others(59): Show c.488-4038_488-4037insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	3/7			chr11	TogoVar
H2AC11_chr6_27128043_27138535	27134003	G G	GGTGGCTC others(35): Show GGTGGCTCGACCACGTGCAACGCCAGACTCAGCACGACAGCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	401	0.0025	42	c.53 others(51): Show c.539_*540insGTGGCTCGACCACGTGCAACGCCAGACTCAGCACGA CAGCGA	H2AC11	ENSG00000196787.4	transcript	ENST00000359193.4	protein_coding		469		chr6	TogoVar
H2BC11_chr6_27127316_27137795	27134003	G G	GGTGGCTC others(35): Show GGTGGCTCGACCACGTGCAACGCCAGACTCAGCACGACAGCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	391	0.0026	42	c.-12 others(53): Show c.-1254_-1253insTCGCTGTCGTGCTGAGTCTGGCGTTGCACGTGGT CGAGCCAC	H2BC11	ENSG00000124635.9	transcript	ENST00000339812.3	protein_coding		1209		chr6	TogoVar
H3Y1_chr5_17649868_17660849	17651922	C C	CTTTCTTT others(35): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03579.hp1 HG02622.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	2	26	0.0769	42	c.32 others(53): Show c.3205_*3206insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	H3Y1	ENSG00000269466.4	transcript	ENST00000598383.3	protein_coding		2945		chr5	TogoVar
H3Y2_chr5_17485967_17497076	17493385	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01258.hp2 others(16): Show HG01257.hp2 HG01258.hp1 HG01258.hp2 HG02040.hp2 HG02083.hp1 HG02109.hp1 HG02257.hp1 HG02451.hp1 HG02602.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp2 HG03490.hp2 HG03540.hp1 NA18954.hp1 NA18957.hp2 NA19001.hp2 NA19064.hp1 NA19084.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0006 a0001c0001 a0001c0002 a0005c0006	a0001c0001t0001 a0001c0002t0001 a0005c0006t0001 a0001c0001t0001 a0001c0002t0001 a0005c0006t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0005c0006t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000 a0005c0006t0001g0000	19	40	0.4750	42	c.-16 others(53): Show c.-1618_-1617insATATATATATATATATATATATATATATATATAT ATATATAT	H3Y2	ENSG00000268799.4	transcript	ENST00000600799.3	protein_coding		1310		chr5	TogoVar
H3Y2_chr5_17485967_17497076	17493399	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	395	0.0025	42	c.-16 others(53): Show c.-1632_-1631insGTATATATATATATATATATATATATATATATAT ATATATAT	H3Y2	ENSG00000268799.4	transcript	ENST00000600799.3	protein_coding		1324		chr5	TogoVar
HACL1_chr3_15555699_15606569	15592283	T T	TATACATA others(35): Show TATACATATGTATATATGTATACATACGTATATATATGTATAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG02559.hp2 others(2): Show HG02257.hp1 HG02258.hp1 HG02559.hp2 HG03041.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0182 a0001c0001t0001g0183 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184	5	426	0.0117	42	c.228 others(57): Show c.228-604_228-603insGTATACATATATATACGTATGTATACATAT ATACATATGTAT	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HAO1_chr20_7877985_7945458	7909381	A A	ATATATAT others(35): Show ATATATATATATGTATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	263	0.0038	42	c.546 others(59): Show c.546-3053_546-3052insCATATATATATATATATATATATATATA TACATATATATATA	HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	3/7			chr20	TogoVar
HAO1_chr20_7877985_7945458	7909383	A A	ATATATAT others(35): Show ATATATATATATATATGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	192	0.0052	42	c.546 others(59): Show c.546-3055_546-3054insCATATATATATATATATATATATATACA TATATATATATATA	HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	3/7			chr20	TogoVar
HAUS2_chr15_42543838_42574994	42544850	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	342	0.0029	42	c.-40 others(53): Show c.-4023_-4022insTATATATATATATATATATATATATATATATATA TATATATG	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding		3987		chr15	TogoVar
HBM_chr16_160978_171764	163432	A A	AGTGAGGA others(35): Show AGTGAGGAGGGGACCGTGGGGAGGAGACAGTGAGGAGGGGACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01109.hp2 others(5): Show HG01069.hp1 HG01071.hp1 HG01109.hp2 HG02451.hp1 HG02559.hp2 HG02723.hp1 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	8	197	0.0406	42	c.-25 others(53): Show c.-2566_-2565insGTGAGGAGGGGACCGTGGGGAGGAGACAGTGAGG AGGGGACC	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		2545		chr16	TogoVar
HBZ_chr16_147644_159503	153211	G G	GGAGGGGA others(35): Show GGAGGGGACCTTGGGGAGGGGACAGTGAGGAGGGAACCGTGGA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03225.hp2 HG02970.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0035 a0001c0001t0001g0036	2	432	0.0046	42	c.95+ others(55): Show c.95+209_95+210insGGGGACCTTGGGGAGGGGACAGTGAGGAGGGA ACCGTGGAGA	HBZ	ENSG00000130656.6	transcript	ENST00000252951.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
HBZ_chr16_147644_159503	154184	A A	AGGGGCGG others(35): Show AGGGGCGGGGCGGGGCGGGGTCGCGGCGCGGGGCGGGGGTCGC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	122	0.0082	42	c.301 others(55): Show c.301-79_301-78insCGGGGCGGGGTCGCGGCGCGGGGCGGGGGTCG CGGGGCGGGG	HBZ	ENSG00000130656.6	transcript	ENST00000252951.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
HBZ_chr16_147644_159503	154184	A A	AGGGGCGG others(35): Show AGGGGCGGGGCGGGGCGGGGTCGCGGGGCGGGGCGGGGGTCGC	intron_variant intron_variant	MODIFIER	HG01516.hp1 NA20805.hp2 HG01516.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	2	123	0.0163	42	c.301 others(55): Show c.301-79_301-78insCGGGGCGGGGTCGCGGGGCGGGGCGGGGGTCG CGGGGCGGGG	HBZ	ENSG00000130656.6	transcript	ENST00000252951.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
HCN2_chr19_584881_622159	604565	C C	CTATGAGG others(35): Show CTATGAGGGTTGTGCTGAGCGGGGTCAGACATCCGAGTGGAGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03516.hp2 HG02970.hp1 HG03516.hp2	a0001 a0001	a0001c0023 a0001c0094 a0001c0023 a0001c0094	a0001c0023t0001 a0001c0094t0001 a0001c0023t0001 a0001c0094t0001	a0001c0023t0001g0370 a0001c0094t0001g0369 a0001c0023t0001g0370 a0001c0094t0001g0369	2	405	0.0049	42	c.105 others(59): Show c.1057-479_1057-438dupAGCGGGGTCAGACATCCGAGTGGAGATA TGAGGGTTGTGCTG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	604582	A A	AGCGGGGT others(35): Show AGCGGGGTCAGACATCCGAGTGGAGATATGAGGGTTGTGCTGG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0344 a0002c0005t0003g0344	1	405	0.0025	42	c.105 others(59): Show c.1057-468_1057-427dupACATCCGAGTGGAGATATGAGGGTTGTG CTGGGCGGGGTCAG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	620966	G G	GGGGCGCG others(35): Show GGGGCGCGGGGGCGCCGGGGGAGGGCGCGGGGGCGCCGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG01109.hp1 others(7): Show HG00558.hp1 HG00609.hp1 HG01109.hp1 HG02015.hp2 HG02080.hp1 NA18982.hp1 NA18983.hp2 NA19007.hp2 NA19074.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0018 others(3): Show a0001c0001 a0001c0003 a0001c0018 a0001c0075 a0002c0004 a0002c0010	a0001c0001t0002 a0001c0003t0002 a0001c0018t0001 others(4): Show a0001c0001t0002 a0001c0003t0002 a0001c0018t0001 a0001c0075t0004 a0002c0004t0002 a0002c0010t0001 a0002c0010t0002	a0001c0001t0002g0077 a0001c0001t0002g0082 a0001c0001t0002g0114 others(7): Show a0001c0001t0002g0077 a0001c0001t0002g0082 a0001c0001t0002g0114 a0001c0003t0002g0110 a0001c0003t0002g0111 a0001c0018t0001g0051 a0001c0075t0004g0202 a0002c0004t0002g0328 a0002c0010t0001g0363 a0002c0010t0002g0270	10	359	0.0279	42	c.44 others(53): Show c.4492_*4493insGGGCGCGGGGGCGCCGGGGGAGGGCGCGGGGGCG CCGGGGGA	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding		3808		chr19	TogoVar
HDAC9_chr7_18490749_19007416	18572298	T T	TTTTGTCA others(35): Show TTTTGTCATATTCATAAATATGTCATATTCACAAATATGACTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02818.hp2 HG02922.hp1 others(1): Show HG02258.hp1 HG02818.hp2 HG02922.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0001t0047 a0001c0004t0014 a0001c0001t0007 a0001c0001t0047 a0001c0004t0014	a0001c0001t0007g0041 a0001c0001t0007g0047 a0001c0001t0047g0040 others(1): Show a0001c0001t0007g0041 a0001c0001t0007g0047 a0001c0001t0047g0040 a0001c0004t0014g0058	4	154	0.0260	42	c.23- others(59): Show c.23-12969_23-12928dupTAAATATGTCATATTCACAAATATGACT ATTTGTCATATTCA	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18932864	G G	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19240.hp2 NA20300.hp1 HG03209.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0037 a0001c0001t0038 a0001c0004t0018 a0001c0001t0037 a0001c0001t0038 a0001c0004t0018	a0001c0001t0037g0050 a0001c0001t0038g0031 a0001c0004t0018g0145 a0001c0001t0037g0050 a0001c0001t0038g0031 a0001c0004t0018g0145	3	152	0.0197	42	c.280 others(61): Show c.2804-2929_2804-2928insAAAGAAAGAAAGAAAGAAAGAAAGAA AAAGAAAGAAAGAAAG	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	22/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDHD3_chr9_113368422_113381986	113381412	C C	CCTCCCTC others(35): Show CCTCCCTCCCTCCCTCTCTCTCTCCCTCCCTCCCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	81	0.0123	42	c.-49 others(53): Show c.-4975_-4974insAGAGAGAGAGGGAGGGAGGGAGAGAGAGAGGGAG GGAGGGAG	HDHD3	ENSG00000119431.10	transcript	ENST00000374180.4	protein_coding		4427		chr9	TogoVar
HEATR4_chr14_73473484_73563947	73524310	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0151 a0003c0007t0003g0151	1	118	0.0085	42	c.-72 others(59): Show c.-72-1087_-72-1086insATATATATATATATATATATATATATAT ATTTTTTTTTTTTT	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	2/17			chr14	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0175 a0002c0003t0002g0175	1	153	0.0065	42	c.591 others(61): Show c.5912-2422_5912-2421insATATATATATATATATATTTTTTTTT TTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03471.hp2 HG02683.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0001 a0002c0003t0001 a0001c0005t0001 a0002c0003t0001	a0001c0005t0001g0027 a0002c0003t0001g0101 a0001c0005t0001g0027 a0002c0003t0001g0101	2	154	0.0130	42	c.591 others(61): Show c.5912-2422_5912-2421insATATATATATATATATATATATATTT TTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	153	0.0065	42	c.591 others(61): Show c.5912-2422_5912-2421insATATATATATATATATATATATATAT TTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0309 a0001c0012t0004g0309	1	153	0.0065	42	c.591 others(61): Show c.5912-2422_5912-2421insATATATATATATATATATATATATAT ATTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GAGATGGA others(35): Show GAGATGGATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA19065.hp2 NA20752.hp2 HG00741.hp1 NA19065.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0060 a0001c0002t0001g0251 a0001c0005t0001g0025 a0001c0002t0001g0060 a0001c0002t0001g0251 a0001c0005t0001g0025	3	140	0.0214	42	c.321 others(59): Show c.3216+709_3216+710insATATATATATATATATATATATATATAT ATATATATCCATCT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GATATATA others(35): Show GATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG04204.hp1 NA18972.hp1 HG01884.hp2 HG04204.hp1 NA18972.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0030 a0002c0003 a0001c0004 a0001c0030 a0002c0003	a0001c0004t0001 a0001c0030t0001 a0002c0003t0002 a0001c0004t0001 a0001c0030t0001 a0002c0003t0002	a0001c0004t0001g0228 a0001c0030t0001g0092 a0002c0003t0002g0075 a0001c0004t0001g0228 a0001c0030t0001g0092 a0002c0003t0002g0075	3	140	0.0214	42	c.321 others(59): Show c.3216+709_3216+710insATATATATATATATATATATATATATAT ATATATATATATAT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar

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