Joint Open Genome and Omics Platform (JoGo)

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view	regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
	VPS53_chr17_503668_719839	510333	T T	TCGCCCCT others(292): Show TCGCCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCA CATATCAAATCCTGTCTCATCCCTCACTAGTCACATATCAAATCTTGGCT GACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCAC ATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCC GACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCAC ATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0212 a0001c0001t0107g0212	1	232	0.0043	299	c.87 others(310): Show c.8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG TGACTAGTAAGGGGTCAGCCAAGATTTGATATGTGACTAGTGAGGGATGA GACAGGATTTGATATGTGACTAGTGAGGGGCGAGCCAGGATTTGATATGT GACTGGTGAGGGGCG		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22				8794		chr17	TogoVar
	VPS53_chr17_503668_719839	510333	T T	TCGCCCCT others(292): Show TCGCCCCTCACTAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCA CATATCAAATCCTGTCTCATCCCTCACTAGTCACATATCAAATCTTGGCT GACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCAC ATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCC GACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCAC ATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01081.hp2 HG01175.hp2 others(29): Show HG00741.hp2 HG01081.hp2 HG01175.hp2 HG01192.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01978.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02280.hp2 HG02300.hp2 HG02602.hp2 HG03492.hp2 HG03516.hp1 HG03688.hp2 NA18940.hp2 NA18967.hp2 NA18983.hp2 NA19009.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0011 a0001c0001t0016 others(14): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0016 a0001c0001t0030 a0001c0001t0069 a0001c0001t0084 a0001c0001t0106 a0001c0001t0110 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0117 a0001c0001t0128 a0001c0007t0011 a0001c0007t0012 a0001c0007t0023 a0001c0007t0070	a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 others(29): Show a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0011g0013 a0001c0001t0016g0118 a0001c0001t0016g0124 a0001c0001t0016g0125 a0001c0001t0030g0119 a0001c0001t0030g0120 a0001c0001t0069g0012 a0001c0001t0084g0046 a0001c0001t0106g0117 a0001c0001t0110g0127 a0001c0001t0113g0122 a0001c0001t0114g0142 a0001c0001t0115g0136 a0001c0001t0117g0230 a0001c0001t0128g0132 a0001c0007t0011g0105 a0001c0007t0011g0106 a0001c0007t0012g0108 a0001c0007t0012g0110 a0001c0007t0012g0111 a0001c0007t0023g0107 a0001c0007t0023g0109 a0001c0007t0070g0112	32	232	0.1379	299	c.87 others(310): Show c.8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG TGACTAGTAAGGGGTCAGCCAAGATTTGATATGTGACTAGTGAGGGATGA GACAGGATTTGATATGTGACTAGTGAGGGGCGAGCCAGGATTTGATATGT GACTAGTGAGGGGCG		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22				8794		chr17	TogoVar
	ZBTB43_chr9_126800040_126843210	126814265	G G	GATTTTTA others(292): Show GATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACA GATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAA AATTTTTACAGATGAAATTTCATCTGTAAAATTTTTACAGATGAAATTTA CATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAG ATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	388	0.0026	299	c.-24 others(316): Show c.-24+5412_-24+5413insTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTA CATCTGTAAAATTTTTACAGATGAAATTTCATCTGTAAAATTTTTACAGA TGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAA TTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTAC ATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGA TGAAATTTACATCTGTAAAAT		ZBTB43	ENSG00000169155.10	transcript	ENST00000373464.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr9	TogoVar
	ZDHHC11B_chr5_705355_789729	749002	A A	ACTAAGTG others(292): Show ACTAAGTGCCAGGGTCACAGCACCCATCCCTTCCTTATTTAGTGCCAGGG TCACAGTGCCCACCCCTTCCTAAGTGCCGGGGTCACAGCACCCACCCCTT CCTAAGTGCTGGGGTCACAGTGCCTGCCGGCTCTGCCGGGCCCCAGCACC CATCCTTTCCTAAGTGCCAGGGGCCCCAGCACCCACCCCTTCCTTACTAA GTGCCAGGGTCACAGTGCCCACCCCTTCCTTACTAAGTGCCGGGGTCACA GTGCCCACCCCTTCCTCACTAAGTGCCAGGGTCACAGTGCCCACCCCTTC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0027 a0001c0002t0040g0027	1	271	0.0037	299	c.629 others(314): Show c.629-444_629-443insGAAGGGGTGGGCACTGTGACCCTGGCACTT AGTGAGGAAGGGGTGGGCACTGTGACCCCGGCACTTAGTAAGGAAGGGGT GGGCACTGTGACCCTGGCACTTAGTAAGGAAGGGGTGGGTGCTGGGGCCC CTGGCACTTAGGAAAGGATGGGTGCTGGGGCCCGGCAGAGCCGGCAGGCA CTGTGACCCCAGCACTTAGGAAGGGGTGGGTGCTGTGACCCCGGCACTTA GGAAGGGGTGGGCACTGTGACCCTGGCACTAAATAAGGAAGGGATGGGTG CTGTGACCCTGGCACTTAG		ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	7/13						chr5	TogoVar
	ZNF778_chr16_89212703_89242141	89215276	G G	GAACATGA others(292): Show GAACATGAAAAGATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTA GCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0141 a0006c0007t0141	a0006c0007t0141g0008 a0006c0007t0141g0008	1	434	0.0023	299	c.-27 others(310): Show c.-2766_-2765insAACATGAAAAGATGGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTC AGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAA AAATACAAAAAATTAGCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAA		ZNF778	ENSG00000170100.14	transcript	ENST00000433976.7	protein_coding					2426		chr16	TogoVar