Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
ZNF419_chr19_57482750_57501098	57483494	T T	TGGGGGGC others(44): Show TGGGGGGCTCAGCCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp2 HG02738.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	2	414	0.0048	51	c.-44 others(62): Show c.-4457_-4456insGGGGGGCTCAGCCCCCCCGCCTGGCCAGCCGCCC CGTCCGGGAGGGAGGTG	ZNF419	ENSG00000105136.22	transcript	ENST00000221735.12	protein_coding		4255		chr19	TogoVar
ZNF48_chr16_30390420_30405108	30403283	G G	GCTGCTGC others(44): Show GCTGCTGCTGCTGCTGCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTC TT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 NA18962.hp2 NA18984.hp2 others(1): Show HG01123.hp1 NA18962.hp2 NA18984.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	26	0.1538	51	c.41 others(62): Show c.4176_*4177insCTGCTGCTGCTGCTGCTGCTGCTGCTTCTTCTTC TTCTTCTTCTTCTTCTT	ZNF48	ENSG00000180035.13	transcript	ENST00000613509.2	protein_coding		3176		chr16	TogoVar
ZNF48_chr16_30390420_30405108	30403283	G G	GCTGCTGC others(44): Show GCTGCTGCTGCTGCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 NA18522.hp2 NA18960.hp2 others(1): Show HG03139.hp1 NA18522.hp2 NA18960.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	26	0.1538	51	c.41 others(62): Show c.4176_*4177insCTGCTGCTGCTGCTGCTGCTGCTTCTTCTTCTTC TTCTTCTTCTTCTTCTT	ZNF48	ENSG00000180035.13	transcript	ENST00000613509.2	protein_coding		3176		chr16	TogoVar
ZNF48_chr16_30390420_30405108	30403283	G G	GCTGCTGC others(44): Show GCTGCTGCTGCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01192.hp2 HG01256.hp1 others(5): Show HG01167.hp1 HG01192.hp2 HG01256.hp1 NA18942.hp1 NA18970.hp2 NA18982.hp2 NA18992.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0001 a0001c0001t0001g0010	8	30	0.2667	51	c.41 others(62): Show c.4176_*4177insCTGCTGCTGCTGCTGCTGCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTT	ZNF48	ENSG00000180035.13	transcript	ENST00000613509.2	protein_coding		3176		chr16	TogoVar
ZNF48_chr16_30390420_30405108	30403283	G G	GCTGCTGC others(44): Show GCTGCTGCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 NA18942.hp2 NA18992.hp1 HG01069.hp1 NA18942.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	25	0.1200	51	c.41 others(62): Show c.4176_*4177insCTGCTGCTGCTGCTGCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTT	ZNF48	ENSG00000180035.13	transcript	ENST00000613509.2	protein_coding		3176		chr16	TogoVar
ZNF48_chr16_30390420_30405108	30403283	G G	GCTGCTGC others(44): Show GCTGCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	23	0.0435	51	c.41 others(62): Show c.4176_*4177insCTGCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTT	ZNF48	ENSG00000180035.13	transcript	ENST00000613509.2	protein_coding		3176		chr16	TogoVar
ZNF48_chr16_30390420_30405108	30403283	G G	GCTGCTGC others(44): Show GCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0003 a0002c0004t0003g0003	1	23	0.0435	51	c.41 others(62): Show c.4176_*4177insCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTT	ZNF48	ENSG00000180035.13	transcript	ENST00000613509.2	protein_coding		3176		chr16	TogoVar
ZNF48_chr16_30390420_30405108	30403283	G G	GCTGCTGC others(44): Show GCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01978.hp2 HG03927.hp1 HG01123.hp2 HG01978.hp2 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0003 a0001c0001t0001 a0002c0004t0003	a0001c0001t0001g0001 a0001c0001t0001g0013 a0002c0004t0003g0003 a0001c0001t0001g0001 a0001c0001t0001g0013 a0002c0004t0003g0003	3	25	0.1200	51	c.41 others(62): Show c.4176_*4177insCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTT	ZNF48	ENSG00000180035.13	transcript	ENST00000613509.2	protein_coding		3176		chr16	TogoVar
ZNF516_chr18_76352682_76500242	76393393	G G	GGGGAGGG others(44): Show GGGGAGGGCGGGTGGTCAGGTGGGGGAAAGGCAGGTAGTCAGGTGGGAAG CC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	331	0.0030	51	c.181 others(72): Show c.1811-13091_1811-13090insGGCTTCCCACCTGACTACCTGCCT TTCCCCCACCTGACCACCCGCCCTCCC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394698	G G	GGGGAGGG others(44): Show GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAG CC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	338	0.0030	51	c.181 others(72): Show c.1811-14396_1811-14395insGGCTTCCCACCTGACCACCTGCCT TCCCCCCACCTGACCACCTGCCCTCCC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394747	G G	GAAGGCAG others(44): Show GAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGG GC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	306	0.0033	51	c.181 others(72): Show c.1811-14445_1811-14444insGCCCCCACCTGACCACCTGCCTTC CCGGCTTCCCACCTGACCACCTGCCTT	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF532_chr18_58859877_58991480	58935176	A A	ACTCCTCC others(44): Show ACTCCTCCTCCTCCCCACTCCTCCTCCTCCCCACTCCTCCTCCTCCCCTT TC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02451.hp1 HG02622.hp1 others(8): Show HG01981.hp1 HG02451.hp1 HG02622.hp1 HG02723.hp1 HG02976.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03831.hp2 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 others(8): Show a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0281 a0001c0001t0001g0287 a0001c0001t0001g0306 a0001c0001t0006g0268	11	316	0.0348	51	c.252 others(68): Show c.2528+577_2528+578insACTCCTCCTCCTCCCCACTCCTCCTCCT CCCCTTTCCTCCTCCTCCTCCCC	ZNF532	ENSG00000074657.14	transcript	ENST00000591808.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF565_chr19_36177276_36219665	36218623	G G	GCCTGGCT others(44): Show GCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGC GT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	384	0.0026	51	c.-41 others(62): Show c.-4118_-4068dupACGCGGTGAAACCCCATCTCTACTAAAAATACAA AAACAAAATTAGCCAGG	ZNF565	ENSG00000196357.12	transcript	ENST00000304116.10	protein_coding		3959		chr19	TogoVar
ZNF592_chr15_84743592_84811445	84786777	G G	GTTGCCCC others(44): Show GTTGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0163 a0002c0002t0001g0163	1	368	0.0027	51	c.222 others(70): Show c.2220+1882_2220+1883insTTGCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCC	ZNF592	ENSG00000166716.10	transcript	ENST00000560079.7	protein_coding	4/10			chr15	TogoVar
ZNF641_chr12_48332180_48355919	48332835	A A	ACCTCCCG others(44): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCACC TC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	406	0.0025	51	c.10 others(64): Show c.10137_*10138insGAGGTGGGGGGGGTCGGCCCCCCTGCCCGGCC AGCCGCCCCGTCCGGGAGG	ZNF641	ENSG00000167528.13	transcript	ENST00000547026.6	protein_coding		4344		chr12	TogoVar
ZNF641_chr12_48332180_48355919	48332960	G G	GGGGGGGG others(44): Show GGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	334	0.0030	51	c.10 others(64): Show c.10012_*10013insGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCGGCCCCCCC	ZNF641	ENSG00000167528.13	transcript	ENST00000547026.6	protein_coding		4219		chr12	TogoVar
ZNF680_chr7_64514878_64568071	64566464	G G	GTGTGTGT others(44): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTCTTTTTTTTTTTGTTTTTTTTG TC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	382	0.0026	51	c.-35 others(62): Show c.-3511_-3510insGACAAAAAAAACAAAAAAAAAAAGACACACACAC ACACACACACACACACA	ZNF680	ENSG00000173041.12	transcript	ENST00000309683.11	protein_coding		3394		chr7	TogoVar
ZNF723_chr19_22827291_22863667	22862431	A A	ATATATAA others(44): Show ATATATAATATAATATATATTATATATATTATATATGTAATATAATATAT AT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	324	0.0031	51	c.39 others(62): Show c.3998_*3999insTATATAATATAATATATATTATATATATTATATA TGTAATATAATATATAT	ZNF723	ENSG00000268696.3	transcript	ENST00000600766.3	protein_coding		3765		chr19	TogoVar
ZNF765_chr19_53390149_53417009	53414487	A A	ACACCACC others(44): Show ACACCACCACCACCACCACCACCACCACCACCACCACCACCACCACCACC AC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0109 a0001c0003t0016g0109	1	403	0.0025	51	c.53 others(62): Show c.5360_*5361insCACCACCACCACCACCACCACCACCACCACCACC ACCACCACCACCACCAC	ZNF765	ENSG00000196417.13	transcript	ENST00000396408.8	protein_coding		2479		chr19	TogoVar
ZNF771_chr16_30402606_30424414	30403283	G G	GCTGCTGC others(44): Show GCTGCTGCTGCTGCTGCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTC TT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 NA18962.hp1 NA18984.hp1 others(1): Show HG01123.hp2 NA18962.hp1 NA18984.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0091 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0091 a0001c0001t0001g0096	4	29	0.1379	51	c.-43 others(62): Show c.-4391_-4390insCTGCTGCTGCTGCTGCTGCTGCTGCTTCTTCTTC TTCTTCTTCTTCTTCTT	ZNF771	ENSG00000179965.12	transcript	ENST00000319296.10	protein_coding		4322		chr16	TogoVar
ZNF771_chr16_30402606_30424414	30403283	G G	GCTGCTGC others(44): Show GCTGCTGCTGCTGCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 NA18522.hp1 NA19089.hp1 others(1): Show HG01175.hp1 NA18522.hp1 NA19089.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0069 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0069 a0001c0001t0001g0141	4	29	0.1379	51	c.-43 others(62): Show c.-4391_-4390insCTGCTGCTGCTGCTGCTGCTGCTTCTTCTTCTTC TTCTTCTTCTTCTTCTT	ZNF771	ENSG00000179965.12	transcript	ENST00000319296.10	protein_coding		4322		chr16	TogoVar
ZNF771_chr16_30402606_30424414	30403283	G G	GCTGCTGC others(44): Show GCTGCTGCTGCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01192.hp1 HG01256.hp1 others(3): Show HG01167.hp1 HG01192.hp1 HG01256.hp1 HG02027.hp2 NA18970.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0050 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0050 a0001c0001t0001g0067 a0001c0001t0001g0112 a0001c0001t0001g0116	6	31	0.1935	51	c.-43 others(62): Show c.-4391_-4390insCTGCTGCTGCTGCTGCTGCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTT	ZNF771	ENSG00000179965.12	transcript	ENST00000319296.10	protein_coding		4322		chr16	TogoVar
ZNF771_chr16_30402606_30424414	30403283	G G	GCTGCTGC others(44): Show GCTGCTGCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 NA19060.hp1 NA20129.hp1 HG01069.hp2 NA19060.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0022	3	28	0.1071	51	c.-43 others(62): Show c.-4391_-4390insCTGCTGCTGCTGCTGCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTT	ZNF771	ENSG00000179965.12	transcript	ENST00000319296.10	protein_coding		4322		chr16	TogoVar
ZNF771_chr16_30402606_30424414	30403283	G G	GCTGCTGC others(44): Show GCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	26	0.0385	51	c.-43 others(62): Show c.-4391_-4390insCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTT	ZNF771	ENSG00000179965.12	transcript	ENST00000319296.10	protein_coding		4322		chr16	TogoVar
ZNF771_chr16_30402606_30424414	30403283	G G	GCTGCTGC others(44): Show GCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01978.hp1 HG03927.hp1 HG01123.hp1 HG01978.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0109 a0001c0001t0003g0001 a0001c0001t0001g0003 a0001c0001t0001g0109 a0001c0001t0003g0001	3	28	0.1071	51	c.-43 others(62): Show c.-4391_-4390insCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTT	ZNF771	ENSG00000179965.12	transcript	ENST00000319296.10	protein_coding		4322		chr16	TogoVar
ZNF804B_chr7_88754700_89343528	88877011	T T	TATATATA others(44): Show TATATATAATATATATATATATATATATATTTTTTTTTTTTTGAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03209.hp2 NA18962.hp1 HG02056.hp1 HG03209.hp2 NA18962.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0003c0005 a0001c0001 a0003c0003 a0003c0005	a0001c0001t0002 a0003c0003t0003 a0003c0005t0003 a0001c0001t0002 a0003c0003t0003 a0003c0005t0003	a0001c0001t0002g0080 a0003c0003t0003g0074 a0003c0005t0003g0147 a0001c0001t0002g0080 a0003c0003t0003g0074 a0003c0005t0003g0147	3	157	0.0191	51	c.108 others(72): Show c.108+116934_108+116935insATATATATATATATATATATATTT TTTTTTTTTTGAAAAAAAAAATATATA	ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF804B_chr7_88754700_89343528	88877013	T T	TATATATA others(44): Show TATATATAATATATATATATATATATATATTTTTTTTTTTTTGAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0009 a0003c0005t0009	a0003c0005t0009g0163 a0003c0005t0009g0163	1	149	0.0067	51	c.108 others(72): Show c.108+116936_108+116937insATATATATATATATATATATATTT TTTTTTTTTTGAAAAAAAAAATATATA	ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF804B_chr7_88754700_89343528	88877026	A A	ATATATAT others(44): Show ATATATATATTTTTTTTTTTTTTGAAAAAAAAAATATATATATATATAAT AT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0082	1	99	0.0101	51	c.108 others(72): Show c.108+116942_108+116943insTATATATATTTTTTTTTTTTTTGA AAAAAAAAATATATATATATATAATAT	ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	1/3			chr7	TogoVar
ZP3_chr7_76419950_76447069	76423007	A A	AGAGAGAG others(44): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAG AG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0395 a0001c0002t0001g0395	1	264	0.0038	51	c.-19 others(62): Show c.-1958_-1957insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGA GAGAGAGAGAGAGAGAG	ZP3	ENSG00000188372.15	transcript	ENST00000394857.8	protein_coding		1942		chr7	TogoVar
ZP3_chr7_76419950_76447069	76423032	A A	AGAGAGAG others(44): Show AGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAG AG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0023 a0006c0010t0001g0023	1	421	0.0024	51	c.-19 others(62): Show c.-1933_-1932insGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGA GAGAGAGAGAGAGAGAG	ZP3	ENSG00000188372.15	transcript	ENST00000394857.8	protein_coding		1917		chr7	TogoVar
ZSCAN32_chr16_3377085_3406004	3393218	A A	AGAAATAT others(44): Show AGAAATATATATATTTATATATATAATATATATATATAAATATATATATA TT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	207	0.0048	51	c.532 others(66): Show c.532+430_532+431insAATATATATATATTTATATATATATATTAT ATATATAAATATATATATTTC	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ZSWIM5_chr1_45011399_45211605	45044746	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	131	0.0076	51	c.143 others(70): Show c.1433-1352_1433-1351insATATATATATATATATATATATATAT ATATATATATTTTTTTTTTTTTTTT	ZSWIM5	ENSG00000162415.7	transcript	ENST00000359600.6	protein_coding	5/13			chr1	TogoVar
ZSWIM5_chr1_45011399_45211605	45044746	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATAAATATATAT AT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	131	0.0076	51	c.143 others(70): Show c.1433-1352_1433-1351insATATATATATTTATATATATATATAT ATATATATATATTTTTTTTTTTTTT	ZSWIM5	ENSG00000162415.7	transcript	ENST00000359600.6	protein_coding	5/13			chr1	TogoVar
ZSWIM5_chr1_45011399_45211605	45044746	A A	AAAAAAAA others(44): Show AAAAAAAAAAATATATATATATATATATATATATATATATATAAATATAT AT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	131	0.0076	51	c.143 others(70): Show c.1433-1352_1433-1351insATATATATTTATATATATATATATAT ATATATATATATATATTTTTTTTTT	ZSWIM5	ENSG00000162415.7	transcript	ENST00000359600.6	protein_coding	5/13			chr1	TogoVar
AADAT_chr4_170055222_170094956	170087876	G G	GCTGCTTG others(45): Show GCTGCTTGTTTAGACTATAGAAATGAATGACTATATTCAATGTATTTGCA TGA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19057.hp2 NA19054.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	2	376	0.0053	52	c.236 others(67): Show c.236+468_236+519dupTCATGCAAATACATTGAATATAGTCATTCA TTTCTATAGTCTAAACAAGCAG	AADAT	ENSG00000109576.14	transcript	ENST00000337664.9	protein_coding	2/12			chr4	TogoVar
ABAT_chr16_8669617_8789570	8733078	A A	ACCCCCCC others(45): Show ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGA CCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0002 a0001c0011t0001 a0001c0011t0002	a0001c0011t0001g0199 a0001c0011t0002g0198 a0001c0011t0001g0199 a0001c0011t0002g0198	2	357	0.0056	52	c.-41 others(69): Show c.-41-2586_-41-2585insTGGCGGGGGGCTGACCCCCCCCCCACCT CCCTCCCGGATGGGGCGGCTGGCC	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737985	G G	GAAGAAAG others(45): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0110 a0002c0002t0004g0110	1	270	0.0037	52	c.70+ others(67): Show c.70+2179_70+2180insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGAAAG others(45): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01346.hp2 HG01978.hp1 others(1): Show HG00408.hp2 HG01346.hp2 HG01978.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 a0001c0003t0003	a0001c0001t0002g0152 a0001c0001t0003g0061 a0001c0001t0022g0030 others(1): Show a0001c0001t0002g0152 a0001c0001t0003g0061 a0001c0001t0022g0030 a0001c0003t0003g0355	4	75	0.0533	52	c.70+ others(67): Show c.70+2181_70+2182insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGGAAG others(45): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01175.hp1 HG01943.hp2 others(6): Show HG01071.hp1 HG01175.hp1 HG01943.hp2 HG02293.hp1 HG02523.hp1 HG02683.hp1 NA18906.hp1 NA18971.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0011 others(1): Show a0001c0001 a0001c0003 a0001c0011 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0003t0003 a0001c0003t0035 a0001c0011t0001 a0002c0002t0006 a0002c0002t0034	a0001c0001t0001g0135 a0001c0001t0005g0044 a0001c0003t0001g0228 others(6): Show a0001c0001t0001g0135 a0001c0001t0005g0044 a0001c0003t0001g0228 a0001c0003t0003g0123 a0001c0003t0003g0168 a0001c0003t0035g0261 a0001c0011t0001g0199 a0002c0002t0006g0348 a0002c0002t0034g0040	9	80	0.1125	52	c.70+ others(67): Show c.70+2181_70+2182insAGGAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGGAAG others(45): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGA	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18612.hp2 NA18983.hp1 others(1): Show HG03927.hp2 NA18612.hp2 NA18983.hp1 NA18986.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 others(1): Show a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 a0002c0005t0001	a0001c0001t0002g0065 a0001c0003t0001g0028 a0001c0003t0003g0133 others(1): Show a0001c0001t0002g0065 a0001c0003t0001g0028 a0001c0003t0003g0133 a0002c0005t0001g0208	4	75	0.0533	52	c.70+ others(67): Show c.70+2181_70+2182insAGGAAGGAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGGAAG others(45): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA19081.hp2 NA18975.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0002 a0002c0006t0002 a0001c0001t0002 a0002c0006t0002	a0001c0001t0002g0206 a0002c0006t0002g0132 a0001c0001t0002g0206 a0002c0006t0002g0132	2	73	0.0274	52	c.70+ others(67): Show c.70+2181_70+2182insAGGAAGGAAGGAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGGAAG others(45): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAA AGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	72	0.0139	52	c.70+ others(67): Show c.70+2181_70+2182insAGGAAGGAAGGAAGGAAGGAAGGAAGAAAG AAAGAAAGAAAGAAAGAAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGGAAG others(45): Show GAAGGAAGGAAGGAAGGAAGGAAGGGAGAAAGAAAGAAAGAAAGAAAGAA AGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0037 a0002c0002t0006g0037	1	72	0.0139	52	c.70+ others(67): Show c.70+2181_70+2182insAGGAAGGAAGGAAGGAAGGAAGGGAGAAAG AAAGAAAGAAAGAAAGAAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69162838	C C	CATATACA others(45): Show CATATACATATACATATACATATACATATACATATACATATACATATACA TAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0091 a0003c0003t0001g0091	1	157	0.0064	52	c.336 others(71): Show c.3363+1235_3363+1236insATATGTATATGTATATGTATATGTAT ATGTATATGTATATGTATATGTATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA1_chr9_104776006_104933155	104805637	C C	CCCAGGCC others(45): Show CCCAGGCCTGTCAAAGGCTACCAGCTCATTTGTTGCAGAGCCAAGATTGG AAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0005 a0004c0029t0005	a0004c0029t0005g0208 a0004c0029t0005g0208	1	316	0.0032	52	c.446 others(69): Show c.4464+552_4464+603dupCTTCCAATCTTGGCTCTGCAACAAATGA GCTGGTAGCCTTTGACAGGCCTGG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	31/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862689	C C	CCCCACCC others(45): Show CCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCC CCA	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18990.hp2 HG01106.hp2 NA18990.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0003 a0001c0001 a0007c0003	a0001c0001t0002 a0007c0003t0002 a0001c0001t0002 a0007c0003t0002	a0001c0001t0002g0075 a0007c0003t0002g0035 a0001c0001t0002g0075 a0007c0003t0002g0035	2	206	0.0097	52	c.422 others(67): Show c.422-890_422-889insTGGGGGTGGGGGTGGGGGTGGGGGTGGGGG TGGGGGTGGGGGTGGGGGTGGG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA3_chr16_2270881_2345728	2299007	A A	AGACAGAG others(45): Show AGACAGAGGCGGTGAGGAGGGCAGGGGTCCCTGGGGGTCCCCCTGCATTC ACG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0187 a0001c0002t0001g0187	1	218	0.0046	52	c.174 others(69): Show c.1741+395_1741+396insCGTGAATGCAGGGGGACCCCCAGGGACC CCTGCCCTCCTCACCGCCTCTGTC	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	14/32			chr16	TogoVar
ABCA3_chr16_2270881_2345728	2299058	T T	TGGACAGA others(45): Show TGGACAGAGGCGGTGAGGAGGGCAGGGGTCCCTGGGGGTCCCCCTGCATT CAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02602.hp1 others(2): Show HG01167.hp1 HG01169.hp2 HG02602.hp1 HG02818.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0024 a0001c0025 a0001c0001 a0001c0024 a0001c0025	a0001c0001t0001 a0001c0024t0001 a0001c0025t0001 a0001c0001t0001 a0001c0024t0001 a0001c0025t0001	a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 others(2): Show a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0024t0001g0164 a0001c0025t0001g0043	5	164	0.0305	52	c.174 others(69): Show c.1741+293_1741+344dupGTGAATGCAGGGGGACCCCCAGGGACCC CTGCCCTCCTCACCGCCTCTGTCC	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	14/32			chr16	TogoVar
ABCA7_chr19_1035107_1070572	1049643	C C	CCCCCCCA others(45): Show CCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTG AGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp2 HG02723.hp1 HG02723.hp2	a0009 a0010 a0009 a0010	a0009c0010 a0010c0008 a0009c0010 a0010c0008	a0009c0010t0001 a0010c0008t0002 a0009c0010t0001 a0010c0008t0002	a0009c0010t0001g0013 a0010c0008t0002g0014 a0009c0010t0001g0013 a0010c0008t0002g0014	2	23	0.0870	52	c.255 others(69): Show c.2552+230_2552+231insGCCCCCCCACCACTCCCTCCCCGTGAGG CCCCCCACCACTCCCTCCCCGTGA	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1049957	C C	CACCACTC others(45): Show CACCACTCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCTGTGAGCCGCC CAA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	23	0.0435	52	c.255 others(69): Show c.2552+539_2552+540insTCCCCCACCACTCCCTCCCTGTGAGCCG CCCAAACCACTCCCTCCCTGTGAG	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr19	TogoVar

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