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
ZNF787_chr19_56082366_56126295	56117326	A A	AGAGTGGC others(41): Show AGAGTGGCTAATACAACCTCACAGAGCCACAGTGAGGCTTCCACAAGCG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	83	0.0120	48	c.-11 others(65): Show c.-11+3845_-11+3846insCGCTTGTGGAAGCCTCACTGTGGCTCTG TGAGGTTGTATTAGCCACTC	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2			chr19	TogoVar
ZNF787_chr19_56082366_56126295	56117336	G G	ATACAACC others(41): Show ATACAACCTCACAGAGCCACAGCGAGGCTTCCACAAGCGGAGCGGCTAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0088 a0001c0001t0006g0088	1	391	0.0026	48	c.-11 others(65): Show c.-11+3836_-11+3837insTAGCCGCTCCGCTTGTGGAAGCCTCGCT GTGGCTCTGTGAGGTTGTAT	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2			chr19	TogoVar
ZNF787_chr19_56082366_56126295	56117358	C C	CGAGGCTT others(41): Show CGAGGCTTCCACAAGCGGAGCGGCTAGTACAACCTCACAGAGCCACAGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02630.hp2 HG02970.hp2 HG02486.hp2 HG02630.hp2 HG02970.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0013 a0002c0003t0006g0065 a0002c0003t0006g0013 a0002c0003t0006g0065	3	408	0.0074	48	c.-11 others(65): Show c.-11+3813_-11+3814insTCTGTGGCTCTGTGAGGTTGTACTAGCC GCTCCGCTTGTGGAAGCCTC	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2			chr19	TogoVar
ZNF799_chr19_12385016_12406271	12386478	A A	AAAGGGGA others(41): Show AAAGGGGAAGGGGAAGGGAAAGGGGAAGGGGAAGGGGAAGGGAAAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	425	0.0024	48	c.39 others(59): Show c.3987_*3988insCCTCTTTCCCTTCCCCTTCCCCTTCCCCTTTCCC TTCCCCTTCCCCTT	ZNF799	ENSG00000196466.10	transcript	ENST00000430385.3	protein_coding		3537		chr19	TogoVar
ZNF799_chr19_12385016_12406271	12386478	A A	AAAGGGGA others(41): Show AAAGGGGAAGGGGAAGGGAAAGGGGAAGGGGAAGGGGAAGGGAAAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	425	0.0024	48	c.39 others(59): Show c.3987_*3988insCCCCTTTCCCTTCCCCTTCCCCTTCCCCTTTCCC TTCCCCTTCCCCTT	ZNF799	ENSG00000196466.10	transcript	ENST00000430385.3	protein_coding		3537		chr19	TogoVar
ZNF804B_chr7_88754700_89343528	88854414	C C	CCTTTCTT others(41): Show CCTTTCTTTCTTTCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0020 a0006c0009t0020	a0006c0009t0020g0158 a0006c0009t0020g0158	1	80	0.0125	48	c.108 others(67): Show c.108+94345_108+94346insCCTTCCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTT	ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF804B_chr7_88754700_89343528	88877011	T T	TATATATA others(41): Show TATATATAATATATATATATATATATTTTTTTTTTTTTTGAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0083 a0002c0007t0004g0083	1	155	0.0065	48	c.108 others(69): Show c.108+116934_108+116935insATATATATATATATATATTTTTTT TTTTTTTGAAAAAAAAAATATATA	ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF804B_chr7_88754700_89343528	88877011	T T	TATATATA others(41): Show TATATATATAATATATATATATATATATATTTTTTTTTTGAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0133	1	155	0.0065	48	c.108 others(69): Show c.108+116936_108+116937insATATATATATATATATATATTTTT TTTTTGAAAAAAAAAATATATATA	ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZSCAN31_chr6_28319737_28341148	28320199	A A	AACAAAAA others(41): Show AACAAAAAAACAGTAATGAAAAAAAGAAAAAAAGAAAAGAAGTAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	414	0.0024	48	c.59 others(59): Show c.5966_*5967insCTTCTTACTTCTTTTCTTTTTTTCTTTTTTTCAT TACTGTTTTTTTGT	ZSCAN31	ENSG00000235109.8	transcript	ENST00000344279.11	protein_coding		4537		chr6	TogoVar
ZSWIM5_chr1_45011399_45211605	45044746	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	131	0.0076	48	c.143 others(67): Show c.1433-1352_1433-1351insATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTTTTTTT	ZSWIM5	ENSG00000162415.7	transcript	ENST00000359600.6	protein_coding	5/13			chr1	TogoVar
ZSWIM5_chr1_45011399_45211605	45044746	A A	AAAAAAAA others(41): Show AAAAAAAAAATATATATATATATATATATATATATATAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03098.hp1 HG02970.hp1 HG03098.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0004 a0001c0005t0001 a0001c0005t0004	a0001c0005t0001g0066 a0001c0005t0004g0069 a0001c0005t0001g0066 a0001c0005t0004g0069	2	132	0.0152	48	c.143 others(67): Show c.1433-1352_1433-1351insATATATATATTTATATATATATATAT ATATATATATATATTTTTTTTT	ZSWIM5	ENSG00000162415.7	transcript	ENST00000359600.6	protein_coding	5/13			chr1	TogoVar
ZSWIM5_chr1_45011399_45211605	45044746	A A	AAAAAAAA others(41): Show AAAAAAAATATATATATATATATATATATATATATATAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0065 a0001c0005t0001g0065	1	131	0.0076	48	c.143 others(67): Show c.1433-1352_1433-1351insATATATATATTTATATATATATATAT ATATATATATATATATTTTTTT	ZSWIM5	ENSG00000162415.7	transcript	ENST00000359600.6	protein_coding	5/13			chr1	TogoVar
ZSWIM5_chr1_45011399_45211605	45044836	A A	AATATATA others(41): Show AATATATATATATATAAATATATATATAAATATATATATATATATAAAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	73	0.0137	48	c.143 others(67): Show c.1433-1442_1433-1441insATTTATATATATATATATATTTATAT ATATATTTATATATATATATAT	ZSWIM5	ENSG00000162415.7	transcript	ENST00000359600.6	protein_coding	5/13			chr1	TogoVar
ZSWIM9_chr19_48165680_48202620	48187985	T T	TAGACAGA others(41): Show TAGACAGACAGACAGACAGACAGATAGATAGATAGATAGATAGATAGAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	364	0.0027	48	c.588 others(65): Show c.588+5232_588+5233insACAGACAGATAGATAGATAGATAGATAG ATAGACAGACAGACAGACAG	ZSWIM9	ENSG00000185453.13	transcript	ENST00000614654.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZSWIM9_chr19_48165680_48202620	48187985	T T	TAGACAGA others(41): Show TAGACAGACAGACAGACAGATAGATAGATAGATAGATAGATAGATAGAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	364	0.0027	48	c.588 others(65): Show c.588+5232_588+5233insACAGATAGATAGATAGATAGATAGATAG ATAGACAGACAGACAGACAG	ZSWIM9	ENSG00000185453.13	transcript	ENST00000614654.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZWILCH_chr15_66500326_66555130	66517430	G G	GTGTGTGT others(41): Show GTGTGTGTGTGTGTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	48	0.0208	48	c.321 others(65): Show c.321-1448_321-1447insGTGTGTGTGTGTATATATATATATATAT ATATATATATATATATATAT	ZWILCH	ENSG00000174442.12	transcript	ENST00000307897.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZYG11B_chr1_52721453_52832336	52776229	A A	AAAAAAAA others(41): Show AAAAAAAAAATATATACATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0016 a0001c0001t0016g0016	1	9	0.1111	48	c.952 others(65): Show c.952-3623_952-3622insAAAAAAAATATATACATATATATATATA TATATATATATATATATATA	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52793868	T T	TTCCTTTC others(41): Show TTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0214 a0001c0001t0005g0218 a0001c0001t0005g0220 a0001c0001t0005g0214 a0001c0001t0005g0218 a0001c0001t0005g0220	3	214	0.0140	48	c.133 others(67): Show c.1335-2423_1335-2422insCCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCT	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52793868	T T	TTTCCTTC others(41): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0221 a0001c0001t0005g0221	1	212	0.0047	48	c.133 others(67): Show c.1335-2390_1335-2389insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTT	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52793868	T T	TTTCTTTC others(41): Show TTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0199 a0001c0001t0005g0199	1	212	0.0047	48	c.133 others(67): Show c.1335-2421_1335-2420insTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTC	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar

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