Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ANAPC10_chr4_144989576_145103196	145026945	A A	ATATATAT others(23): Show ATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02486.hp2 HG00280.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0221 a0001c0001t0001g0191 a0001c0001t0001g0221	2	336	0.0060	30	c.328 others(49): Show c.328-31343_328-31342insCACACACACATATATATATATATATA TATA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145034543	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	336	0.0030	30	c.327 others(49): Show c.327+30028_327+30029insCATATATATATATATATATATATATA TATA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC16_chr10_72211012_72240860	72222446	A A	ATTTTGTC others(23): Show ATTTTGTCTCATTTTGTCTATTTATTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG01069.hp2 others(55): Show HG00438.hp2 HG00609.hp1 HG01069.hp2 HG02040.hp2 HG02080.hp2 HG02083.hp2 HG02257.hp1 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp2 NA18747.hp2 NA18939.hp1 NA18943.hp1 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18959.hp1 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA19009.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19057.hp2 NA19074.hp1 NA19077.hp2 NA19081.hp2 NA19085.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0002t0022 a0002c0004t0003	a0001c0001t0002g0023 a0001c0001t0002g0043 a0001c0001t0002g0045 others(53): Show a0001c0001t0002g0023 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0006g0051 a0001c0001t0006g0055 a0001c0001t0006g0057 a0001c0001t0006g0061 a0001c0001t0006g0062 a0001c0001t0006g0063 a0001c0001t0014g0021 a0001c0001t0015g0052 a0001c0001t0016g0019 a0001c0001t0017g0033 a0001c0001t0018g0020 a0001c0001t0019g0056 a0001c0002t0022g0014 a0002c0004t0003g0024	58	352	0.1648	30	c.-27 others(47): Show c.-27-1442_-27-1441insTTTTGTCTCATTTTGTCTATTTATTTTT TT	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3			chr10	TogoVar
ANAPC16_chr10_72211012_72240860	72237942	G G	GGTCATCT others(23): Show GGTCATCTAGTTCACCCCTCATTTACATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01346.hp1 HG01433.hp2 others(26): Show HG01175.hp2 HG01346.hp1 HG01433.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02723.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0021 a0001c0002t0022 others(3): Show a0001c0002t0004 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0031	a0001c0002t0004g0011 a0001c0002t0004g0135 a0001c0002t0004g0189 others(25): Show a0001c0002t0004g0011 a0001c0002t0004g0135 a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0004g0191 a0001c0002t0004g0192 a0001c0002t0004g0193 a0001c0002t0004g0256 a0001c0002t0004g0301 a0001c0002t0004g0302 a0001c0002t0004g0303 a0001c0002t0004g0304 a0001c0002t0004g0306 a0001c0002t0004g0307 a0001c0002t0004g0311 a0001c0002t0004g0322 a0001c0002t0004g0323 a0001c0002t0004g0324 a0001c0002t0004g0325 a0001c0002t0004g0326 a0001c0002t0004g0327 a0001c0002t0004g0328 a0001c0002t0004g0329 a0001c0002t0021g0310 a0001c0002t0022g0014 a0001c0002t0023g0330 a0001c0002t0024g0305 a0001c0002t0031g0308	29	352	0.0824	30	c.48 others(41): Show c.4826_*4827insGTCATCTAGTTCACCCCTCATTTACATATA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding		2083		chr10	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0362 a0001c0007t0004g0362	1	370	0.0027	30	c.44 others(41): Show c.4477_*4478insGTGTGTGTATATATATATATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 NA20300.hp1 HG03195.hp2 NA20300.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0361 a0001c0007t0004g0364 a0001c0007t0004g0361 a0001c0007t0004g0364	2	370	0.0054	30	c.44 others(41): Show c.4477_*4478insGTGTGTATATATATATATATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 NA18953.hp1 NA19063.hp1 HG02886.hp2 NA18953.hp1 NA19063.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0004 a0001c0007t0004 a0001c0003t0004 a0001c0007t0004	a0001c0003t0004g0275 a0001c0003t0004g0288 a0001c0007t0004g0359 a0001c0003t0004g0275 a0001c0003t0004g0288 a0001c0007t0004g0359	3	370	0.0081	30	c.44 others(41): Show c.4477_*4478insGTGTATATATATATATATATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC5_chr12_121303245_121357411	121352712	T T	TTGGTGGT others(23): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	278	0.0036	30	c.-37 others(39): Show c.-373_-372insCCACCACCACCACCACCACCACCACCACCA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		302		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352715	T T	TTGGTGGT others(23): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01517.hp1 HG01167.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0153 a0001c0001t0001g0014 a0001c0001t0001g0153	2	278	0.0072	30	c.-37 others(39): Show c.-376_-375insCCACCACCACCACCACCACCACCACCACCA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		305		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352718	T T	TTGGTGGT others(23): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01261.hp2 others(9): Show HG00140.hp2 HG00735.hp2 HG01261.hp2 HG01346.hp2 HG02258.hp1 HG02683.hp2 HG02818.hp1 HG03540.hp2 HG04184.hp1 NA18962.hp1 NA18973.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0141 others(7): Show a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0178 a0001c0003t0001g0012	12	278	0.0432	30	c.-37 others(39): Show c.-379_-378insCCACCACCACCACCACCACCACCACCACCA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		308		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352718	T T	TTGTTGGT others(23): Show TTGTTGGTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG00738.hp2 others(1): Show HG00639.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0152 a0001c0001t0001g0154 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156	4	278	0.0144	30	c.-37 others(39): Show c.-379_-378insCCACCACCACCACCACCACCACCACCAACA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		308		chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110387283	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGAGAGACAGAC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	298	0.0034	30	c.674 others(45): Show c.674+455_674+456insGTCTGTCTCTCTCTCTCTCTCTCTCTCTCT	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	5/10			chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110387385	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGACAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	298	0.0034	30	c.674 others(45): Show c.674+353_674+354insGTCTCTCTCTCTCTCTGTCTCTCTCTCTCT	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	5/10			chr12	TogoVar
ANGEL2_chr1_212987182_213020867	212996640	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0141 a0001c0001t0004g0141	1	392	0.0026	30	c.148 others(47): Show c.1483+514_1483+515insATATATATATATATATATATATATTTTT TT	ANGEL2	ENSG00000174606.14	transcript	ENST00000366962.8	protein_coding	8/8			chr1	TogoVar
ANGPT1_chr8_107244482_107502918	107361510	C C	CTATAGAA others(23): Show CTATAGAATATATGTATATATTATATATCAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02818.hp1 HG02895.hp1 others(2): Show HG02572.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0084 a0001c0001t0002g0099 a0001c0001t0002g0177 others(2): Show a0001c0001t0001g0084 a0001c0001t0002g0099 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0183	5	292	0.0171	30	c.298 others(49): Show c.298-14443_298-14414dupTTGATATATAATATATACATATATTC TATA	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPTL1_chr1_178844535_178876077	178856202	G G	GAGAGATA others(23): Show GAGAGATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	2	424	0.0047	30	c.824 others(47): Show c.824-2416_824-2415insATATATATATATATATATATATATATCT CT	ANGPTL1	ENSG00000116194.13	transcript	ENST00000234816.7	protein_coding	3/5			chr1	TogoVar
ANGPTL1_chr1_178844535_178876077	178867785	T T	TAGTTATA others(23): Show TAGTTATATATCTAACCTATGATTATGGACC	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	424	0.0024	30	c.-27 others(47): Show c.-27+1299_-27+1328dupGGTCCATAATCATAGGTTAGATATATAA CT	ANGPTL1	ENSG00000116194.13	transcript	ENST00000234816.7	protein_coding	2/5			chr1	TogoVar
ANK1_chr8_41648225_41802622	41703450	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0057 a0002c0057	a0002c0057t0005 a0002c0057t0005	a0002c0057t0005g0269 a0002c0057t0005g0269	1	278	0.0036	30	c.229 others(47): Show c.2295+590_2295+591insAAAAAAAAAAAATATATATATATATATA TA	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	20/42			chr8	TogoVar
ANK2_chr4_113044653_113388736	113149874	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	178	0.0056	30	c.85- others(47): Show c.85-24516_85-24515insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANK3_chr10_60021298_60394875	60100234	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0021 a0001c0007t0003g0021	1	192	0.0052	30	c.332 others(49): Show c.3328+5670_3328+5671insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	28/43			chr10	TogoVar
ANKAR_chr2_189669670_189751647	189729695	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	296	0.0034	30	c.319 others(47): Show c.3194-779_3194-778insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189729715	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG00642.hp2 others(30): Show HG00558.hp2 HG00609.hp2 HG00642.hp2 HG01069.hp2 HG01074.hp1 HG01099.hp1 HG01256.hp2 HG01346.hp2 HG01981.hp2 HG02004.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02273.hp1 HG02683.hp2 HG03491.hp1 HG03831.hp2 HG03834.hp2 NA18946.hp1 NA18948.hp2 NA18953.hp2 NA18959.hp1 NA18970.hp1 NA18982.hp2 NA18987.hp1 NA18994.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19054.hp1 NA19068.hp2 homoSapiens_chm13v2.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0019 a0001c0001 a0011c0019	a0001c0001t0001 a0011c0019t0001 a0001c0001t0001 a0011c0019t0001	a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 others(30): Show a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0193 a0011c0019t0001g0113	33	296	0.1115	30	c.319 others(47): Show c.3194-779_3194-778insTGTGTGTGTGTGTGTGTGTGTGTGTGTG GG	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189744990	T T	TCTACTAC others(23): Show TCTACTACTACTACTACTACTACTACTACTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01346.hp1 HG01891.hp1 others(10): Show HG00597.hp2 HG01346.hp1 HG01891.hp1 HG01928.hp2 HG02004.hp1 HG02818.hp1 HG02895.hp2 HG03471.hp2 HG03516.hp2 HG03710.hp1 NA18939.hp1 NA19043.hp2 NA19074.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0021 a0001c0001 a0002c0002 a0009c0021	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0009c0021t0001	a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0238 others(10): Show a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0255 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0002g0210 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0065 a0009c0021t0001g0223	13	296	0.0439	30	c.405 others(47): Show c.4057+212_4057+241dupCTACTACTACTACTACTACTACTACTAC TA	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189745027	C C	CTACTACT others(23): Show CTACTACTACTACTAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	296	0.0034	30	c.405 others(47): Show c.4057+241_4057+242insCTACTACTACTAATAATAATAATAATAA TA	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189745027	C C	CTACTACT others(23): Show CTACTACTACTACTACTAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0296 a0004c0006t0001g0296	1	296	0.0034	30	c.405 others(47): Show c.4057+241_4057+242insCTACTACTACTACTAATAATAATAATAA TA	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189745027	C C	CTACTACT others(23): Show CTACTACTACTACTACTACTACTAATAATAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03490.hp1 NA19000.hp1 HG02135.hp1 HG03490.hp1 NA19000.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0283 a0003c0003t0001g0291 a0003c0003t0001g0293 a0003c0003t0001g0283 a0003c0003t0001g0291 a0003c0003t0001g0293	3	296	0.0101	30	c.405 others(47): Show c.4057+241_4057+242insCTACTACTACTACTACTACTAATAATAA TA	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189745027	C C	CTACTACT others(23): Show CTACTACTACTACTACTACTACTACTAATAA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0294 a0003c0003t0001g0294	1	296	0.0034	30	c.405 others(47): Show c.4057+241_4057+242insCTACTACTACTACTACTACTACTAATAA TA	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189745027	C C	CTACTACT others(23): Show CTACTACTACTACTACTACTACTACTACTAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0282 a0003c0003t0001g0282	1	296	0.0034	30	c.405 others(47): Show c.4057+241_4057+242insCTACTACTACTACTACTACTACTACTAA TA	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKEF1_chr20_10029987_10063303	10034893	G G	GGGCGGAG others(23): Show GGGCGGAGGCGGGGGCGGGGGCGGAGGCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	392	0.0026	30	c.-54 others(39): Show c.-549_-548insGGCGGAGGCGGGGGCGGGGGCGGAGGCGGA	ANKEF1	ENSG00000132623.16	transcript	ENST00000378392.6	protein_coding		93		chr20	TogoVar
ANKFN1_chr17_56148475_56522016	56189170	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0014 a0001c0011t0014	a0001c0011t0014g0022 a0001c0011t0014g0045 a0001c0011t0014g0022 a0001c0011t0014g0045	2	112	0.0179	30	c.-70 others(49): Show c.-70-23410_-70-23409insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
ANKFN1_chr17_56148475_56522016	56332979	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0003 a0003c0024t0003	a0003c0024t0003g0097 a0003c0024t0003g0097	1	112	0.0089	30	c.188 others(47): Show c.188+6645_188+6646insATATATATATATATATATATATATATAT AT	ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
ANKHD1_chr5_140396833_140544849	140419917	C C	CCCCCTCC others(23): Show CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	322	0.0031	30	c.307 others(49): Show c.307-16155_307-16126dupCCCTCCCCTCCCCTCCCCTCCCCTCC CCTC	ANKHD1	ENSG00000131503.21	transcript	ENST00000360839.7	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKHD1_chr5_140396833_140544849	140419940	C C	CCTCCCCT others(23): Show CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	322	0.0031	30	c.307 others(49): Show c.307-16135_307-16134insGCTCCCCTCCCCTCCCCTCCCCTCCC CTCC	ANKHD1	ENSG00000131503.21	transcript	ENST00000360839.7	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKH_chr5_14699800_14876778	14793023	T T	TATATATA others(23): Show TATATATATATAAAAATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0140 a0001c0001t0006g0140	1	232	0.0043	30	c.97- others(47): Show c.97-23833_97-23832insTTATATATATATATATTTTTATATATAT AT	ANKH	ENSG00000154122.14	transcript	ENST00000284268.8	protein_coding	1/11			chr5	TogoVar
ANKIB1_chr7_92240974_92406383	92309932	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0031 a0001c0004t0006g0031	1	314	0.0032	30	c.486 others(47): Show c.486+2277_486+2278insTATATATATATATATATATATATATATA TA	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKIB1_chr7_92240974_92406383	92309942	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0164 a0001c0003t0002g0164	1	314	0.0032	30	c.486 others(47): Show c.486+2287_486+2288insAAAAAAAAAAAAAAAATATATATATATA TA	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKRD10_chr13_110873540_110920069	110892416	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02148.hp1 NA18948.hp1 HG00323.hp2 HG02148.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0116 a0001c0001t0001g0211 a0001c0001t0001g0070 a0001c0001t0001g0116 a0001c0001t0001g0211	3	362	0.0083	30	c.691 others(45): Show c.691+611_691+612insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ANKRD10	ENSG00000088448.14	transcript	ENST00000267339.6	protein_coding	4/5			chr13	TogoVar
ANKRD11_chr16_89262630_89495561	89325288	A A	ATTAGCCG others(23): Show ATTAGCCGGGCACTGTGGTGCATGCTGGCGG	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0015 a0015	a0015c0026 a0015c0026	a0015c0026t0001 a0015c0026t0001	a0015c0026t0001g0239 a0015c0026t0001g0239	1	310	0.0032	30	c.-59 others(47): Show c.-59-8240_-59-8211dupCCGCCAGCATGCACCACAGTGCCCGGCT AA	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89327066	G G	GGGAAATG others(23): Show GGGAAATGCAGAGGTGGGGAATGCAGAGGTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0296 a0003c0003t0001g0296	1	310	0.0032	30	c.-59 others(47): Show c.-59-9989_-59-9988insAACCTCTGCATTCCCCACCTCTGCATTT CC	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89329995	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp1 HG03130.hp1 others(1): Show HG02109.hp2 HG02572.hp1 HG03130.hp1 NA20300.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0018 a0002c0002 a0008c0059 a0001c0018 a0002c0002 a0008c0059	a0001c0018t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0018t0001 a0002c0002t0001 a0002c0002t0002 a0008c0059t0001	a0001c0018t0001g0266 a0002c0002t0001g0219 a0002c0002t0002g0220 others(1): Show a0001c0018t0001g0266 a0002c0002t0001g0219 a0002c0002t0002g0220 a0008c0059t0001g0264	4	310	0.0129	30	c.-59 others(49): Show c.-59-12947_-59-12918dupATTTTATTTTATTTTATTTTATTTTA TTTT	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89415829	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01361.hp1 HG02148.hp1 others(1): Show HG01358.hp1 HG01361.hp1 HG02148.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 a0001c0001t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0145 a0002c0002t0002g0153 a0002c0002t0002g0192 others(1): Show a0001c0001t0001g0145 a0002c0002t0002g0153 a0002c0002t0002g0192 a0003c0003t0001g0287	4	310	0.0129	30	c.-60 others(47): Show c.-60+2454_-60+2455insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD12_chr18_9131781_9290985	9157585	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0042 a0002c0018t0042	a0002c0018t0042g0315 a0002c0018t0042g0315	1	318	0.0031	30	c.-52 others(49): Show c.-52+20621_-52+20622insGTGTGTGTGTGTGTGTGTGTATATAT ATAT	ANKRD12	ENSG00000101745.17	transcript	ENST00000262126.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0002 a0001c0019t0002	a0001c0019t0002g0141 a0001c0019t0002g0141	1	292	0.0034	30	c.696 others(49): Show c.6962-1474_6962-1473insATATATATATATATATATATTTTTTT TTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02735.hp2 NA18959.hp2 others(1): Show HG02257.hp2 HG02735.hp2 NA18959.hp2 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0096 a0001c0002t0002g0100 a0001c0003t0003g0256 others(1): Show a0001c0002t0002g0096 a0001c0002t0002g0100 a0001c0003t0003g0256 a0001c0003t0003g0271	4	292	0.0137	30	c.696 others(49): Show c.6962-1474_6962-1473insATATATATATATATATATATATTTTT TTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA19074.hp1 NA18992.hp2 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0006 a0001c0002t0002 a0001c0003t0006	a0001c0002t0002g0116 a0001c0003t0006g0264 a0001c0002t0002g0116 a0001c0003t0006g0264	2	292	0.0069	30	c.696 others(49): Show c.6962-1474_6962-1473insATATATATATATATATATATATATTT TTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0272 a0001c0003t0003g0272	1	292	0.0034	30	c.696 others(49): Show c.6962-1474_6962-1473insATATATATATATATATATATATATAT TTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73158152	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0121 a0001c0002t0002g0121	1	292	0.0034	30	c.705 others(47): Show c.705-1987_705-1986insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	3/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73191341	A A	ATATGTGT others(23): Show ATATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	292	0.0034	30	c.394 others(49): Show c.394-13809_394-13808insCACACACACACACACACACACACACA CATA	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	1/33			chr4	TogoVar
ANKRD1_chr10_90907096_90926087	90918983	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG01346.hp2 others(5): Show HG00621.hp2 HG00639.hp1 HG01346.hp2 HG02886.hp2 NA18945.hp2 NA19011.hp2 NA19074.hp1 NA19084.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0017 a0006c0007t0007	a0001c0001t0002g0177 a0001c0001t0004g0096 a0001c0001t0007g0043 others(3): Show a0001c0001t0002g0177 a0001c0001t0004g0096 a0001c0001t0007g0043 a0001c0001t0010g0044 a0001c0001t0017g0097 a0006c0007t0007g0224	8	468	0.0171	30	c.346 others(43): Show c.346-12_346-11insATATATATATATATATATATATATATATAT	ANKRD1	ENSG00000148677.7	transcript	ENST00000371697.4	protein_coding	3/8			chr10	TogoVar
ANKRD1_chr10_90907096_90926087	90919014	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	468	0.0021	30	c.346 others(43): Show c.346-43_346-42insCATATATATATATATATATATATATATATA	ANKRD1	ENSG00000148677.7	transcript	ENST00000371697.4	protein_coding	3/8			chr10	TogoVar

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