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
FAM219A_chr9_34393184_34463570	34421044	G G	GAGAGAGA others(15): Show GAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0062 a0001c0001t0004g0062	1	396	0.0025	22	c.61- others(39): Show c.61-15081_61-15080insGTCTCTCTCTCTCTCTCTCTCT	FAM219A	ENSG00000164970.15	transcript	ENST00000651358.1	protein_coding	1/5			chr9	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18948.hp2 HG03710.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0179 a0001c0002t0006g0206 a0001c0002t0002g0179 a0001c0002t0006g0206	2	276	0.0073	22	c.-40 others(41): Show c.-40-12013_-40-12012insAAAATATATATATATATATATA	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28790884	C C	CATTTTTT others(15): Show CATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	276	0.0036	22	c.-40 others(41): Show c.-40-24178_-40-24177insAAAAAAAAAAAAAAAAAAAAAT	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM227A_chr22_38573118_38661392	38626891	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0214 a0002c0002t0004g0214	1	328	0.0031	22	c.727 others(37): Show c.727-589_727-588insATATATATATATATATATTTTT	FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	8/16			chr22	TogoVar
FAM227A_chr22_38573118_38661392	38626891	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0189 a0002c0002t0015g0189	1	328	0.0031	22	c.727 others(37): Show c.727-589_727-588insATATATATATATATATATATTT	FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	8/16			chr22	TogoVar
FAM227A_chr22_38573118_38661392	38626891	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0188 a0002c0002t0015g0188	1	328	0.0031	22	c.727 others(37): Show c.727-610_727-589dupATATATATATATATATATATAT	FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	8/16			chr22	TogoVar
FAM227B_chr15_49321970_49625818	49371937	A A	AATAAATG others(15): Show AATAAATGAAATAAAATTCACTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0281 a0001c0002t0021g0281	1	294	0.0034	22	c.101 others(39): Show c.1013-560_1013-539dupAAGTGAATTTTATTTCATTTAT	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FAM227B_chr15_49321970_49625818	49422120	T T	TAGAGAGA others(15): Show TAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03669.hp2 HG04115.hp1 others(3): Show HG01099.hp1 HG03669.hp2 HG04115.hp1 HG04204.hp1 NA18961.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0184 a0001c0001t0001g0203 a0001c0001t0001g0212 others(3): Show a0001c0001t0001g0184 a0001c0001t0001g0203 a0001c0001t0001g0212 a0001c0001t0004g0015 a0001c0001t0004g0093 a0001c0001t0004g0180	6	294	0.0204	22	c.101 others(43): Show c.1013-50743_1013-50722dupCTCTCTCTCTCTCTCTCTCTCT	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FAM228B_chr2_24118469_24174638	24158196	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03579.hp2 HG02922.hp2 HG03579.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0009 a0002c0005t0001g0022 a0002c0005t0001g0009 a0002c0005t0001g0022	2	290	0.0069	22	c.687 others(39): Show c.687-3293_687-3292insTTTTTTTTTTTTTTTTTTTTTT	FAM228B	ENSG00000219626.9	transcript	ENST00000615575.5	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM236C_chrX_72907615_72918401	72907881	A A	AACCAAAA others(15): Show AACCAAAACAGCATGGTACTGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	199	0.0050	22	c.-48 others(33): Show c.-4834_-4833insACCAAAACAGCATGGTACTGGT	FAM236C	ENSG00000283594.1	transcript	ENST00000636267.1	protein_coding		4733		chrX	TogoVar
FAM240C_chr2_241888988_241905464	241896810	T T	TGAAGGGG others(15): Show TGAAGGGGGTGTGGGGTGTTGGG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	37	0.0270	22	c.161 others(37): Show c.161+375_161+376insCCCAACACCCCACACCCCCTTC	FAM240C	ENSG00000216921.9	transcript	ENST00000404031.6	protein_coding	2/2			chr2	TogoVar
FAM241A_chr4_112140454_112200256	112146231	C C	CATGAGTA others(15): Show CATGAGTAGGAGCGGGTGTTACA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0217 a0001c0001t0019g0217	1	388	0.0026	22	c.153 others(37): Show c.153+503_153+524dupGTAGGAGCGGGTGTTACAATGA	FAM241A	ENSG00000174749.6	transcript	ENST00000309733.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM241A_chr4_112140454_112200256	112179914	G G	GACATATA others(15): Show GACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01169.hp2 HG01256.hp2 others(27): Show HG00544.hp1 HG01169.hp2 HG01256.hp2 HG01884.hp1 HG01978.hp1 HG01981.hp1 HG02132.hp1 HG02165.hp1 HG02293.hp1 HG02451.hp1 HG02615.hp1 HG02647.hp2 HG02717.hp1 HG03098.hp2 HG03209.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 NA18948.hp2 NA18950.hp1 NA18956.hp1 NA18968.hp2 NA18969.hp1 NA18979.hp1 NA18987.hp2 NA18994.hp2 NA19001.hp2 NA19005.hp2 NA19009.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 others(14): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0026 a0001c0001t0035 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0074 a0001c0001t0077 a0001c0001t0079 a0001c0001t0109 a0001c0001t0112 a0001c0001t0113 a0001c0001t0116	a0001c0001t0005g0020 a0001c0001t0005g0163 a0001c0001t0005g0164 others(20): Show a0001c0001t0005g0020 a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0005g0205 a0001c0001t0008g0047 a0001c0001t0009g0006 a0001c0001t0009g0189 a0001c0001t0010g0049 a0001c0001t0010g0181 a0001c0001t0010g0193 a0001c0001t0016g0041 a0001c0001t0026g0162 a0001c0001t0035g0152 a0001c0001t0041g0006 a0001c0001t0043g0041 a0001c0001t0044g0047 a0001c0001t0074g0220 a0001c0001t0077g0219 a0001c0001t0079g0020 a0001c0001t0109g0182 a0001c0001t0112g0049 a0001c0001t0113g0006 a0001c0001t0116g0178	30	388	0.0773	22	c.154 others(39): Show c.154-6778_154-6777insCATATATATATATATATATATA	FAM241A	ENSG00000174749.6	transcript	ENST00000309733.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM241A_chr4_112140454_112200256	112197333	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 homoSapiens_chm13v2.hp1 HG01346.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0001 a0001c0001t0030g0001	2	388	0.0052	22	c.10 others(35): Show c.10395_*10396insAAAAAAAAAAAAAAAAAAAAAA	FAM241A	ENSG00000174749.6	transcript	ENST00000309733.6	protein_coding		2078		chr4	TogoVar
FAM25A_chr10_87015294_87029730	87020802	C C	CAAGTCCC others(15): Show CAAGTCCCCTGAAGCATGTTTAT	intron_variant intron_variant	MODIFIER	NA18976.hp2 NA18976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	444	0.0023	22	c.73+ others(35): Show c.73+406_73+427dupAAGTCCCCTGAAGCATGTTTAT	FAM25A	ENSG00000188100.9	transcript	ENST00000343959.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
FAM32A_chr19_16180410_16197046	16189668	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	412	0.0024	22	c.217 others(37): Show c.217-847_217-826dupTTTTTTTTTTTTTTTTTTTTTT	FAM32A	ENSG00000105058.12	transcript	ENST00000263384.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
FAM3A_chrX_154501171_154521232	154519933	C C	CATATATA others(15): Show CATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 NA20129.hp2 HG01884.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0062 a0001c0001t0004g0112 a0001c0001t0004g0062 a0001c0001t0004g0112	2	339	0.0059	22	c.-41 others(33): Show c.-4183_-4162dupATATATATATATATATATATAT	FAM3A	ENSG00000071889.17	transcript	ENST00000447601.7	protein_coding		3702		chrX	TogoVar
FAM3C_chr7_121343878_121401308	121373176	G G	GTCAGGAT others(15): Show GTCAGGATTTTAACTACTTAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02630.hp2 others(4): Show HG01891.hp1 HG02258.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp1 HG03041.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0052 a0001c0001t0001g0159 others(3): Show a0001c0001t0001g0020 a0001c0001t0001g0052 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0172	7	270	0.0259	22	c.119 others(39): Show c.119-1059_119-1038dupTTTTAAGTAGTTAAAATCCTGA	FAM3C	ENSG00000196937.11	transcript	ENST00000359943.8	protein_coding	3/9			chr7	TogoVar
FAM3C_chr7_121343878_121401308	121380733	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01978.hp2 HG02723.hp2 others(1): Show HG00280.hp2 HG01978.hp2 HG02723.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0004 a0001c0001t0016	a0001c0001t0004g0035 a0001c0001t0004g0038 a0001c0001t0004g0197 others(1): Show a0001c0001t0004g0035 a0001c0001t0004g0038 a0001c0001t0004g0197 a0001c0001t0016g0195	4	270	0.0148	22	c.14- others(37): Show c.14-1741_14-1720dupTATATATATATATATATATATA	FAM3C	ENSG00000196937.11	transcript	ENST00000359943.8	protein_coding	2/9			chr7	TogoVar
FAM43B_chr1_20547573_20560020	20550649	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 NA18960.hp1 HG02273.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	464	0.0043	22	c.-23 others(33): Show c.-2325_-2324insAAAAAAAAAAAAAAAAAAAAAA	FAM43B	ENSG00000183114.8	transcript	ENST00000332947.6	protein_coding		1923		chr1	TogoVar
FAM43B_chr1_20547573_20560020	20556391	G G	GACACACA others(15): Show GACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG02273.hp2 HG03927.hp1 others(3): Show HG01358.hp1 HG02273.hp2 HG03927.hp1 NA18941.hp1 NA18948.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	6	464	0.0129	22	c.24 others(33): Show c.2428_*2429insACACACACACACACACACACAC	FAM43B	ENSG00000183114.8	transcript	ENST00000332947.6	protein_coding		1372		chr1	TogoVar
FAM47B_chrX_34937796_34949915	34940858	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03209.hp1 HG03453.hp2 others(2): Show HG02055.hp1 HG03209.hp1 HG03453.hp2 NA19068.hp1 NA19091.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0012 a0001c0001 a0009c0012	a0001c0001t0001 a0009c0012t0002 a0001c0001t0001 a0009c0012t0002	a0001c0001t0001g0000 a0009c0012t0002g0000 a0001c0001t0001g0000 a0009c0012t0002g0000	5	331	0.0151	22	c.-19 others(33): Show c.-1974_-1973insTGTGTGTGTGTGTGTGTGTGTG	FAM47B	ENSG00000189132.6	transcript	ENST00000329357.6	protein_coding		1937		chrX	TogoVar
FAM50A_chrX_154439141_154455654	154448072	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	275	0.0036	22	c.443 others(37): Show c.443-398_443-397insTTTTTTTTTTTTTTTTTTTTTT	FAM50A	ENSG00000071859.15	transcript	ENST00000393600.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAM78B_chr1_166064299_166172001	166084224	C C	CACACACA others(15): Show CACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp1 NA20300.hp1 HG02723.hp1 HG02970.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0055 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0055	3	318	0.0094	22	c.264 others(41): Show c.264-13462_264-13461insATGTGTGTGTGTGTGTGTGTGT	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FAM78B_chr1_166064299_166172001	166084237	A A	ACACACAC others(15): Show ACACACACACACACACACACACT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	318	0.0031	22	c.264 others(41): Show c.264-13475_264-13474insAGTGTGTGTGTGTGTGTGTGTG	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FAM78B_chr1_166064299_166172001	166094003	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp2 HG02071.hp1 others(10): Show HG00597.hp2 HG00621.hp2 HG02071.hp1 HG02293.hp2 HG02895.hp2 NA18946.hp2 NA18960.hp2 NA18968.hp2 NA18970.hp1 NA18991.hp2 NA18998.hp1 NA19065.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0054 a0001c0001t0001g0222 a0001c0001t0001g0243 others(10): Show a0001c0001t0001g0054 a0001c0001t0001g0222 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0001g0276 a0001c0001t0002g0193 a0001c0001t0002g0240 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0281 a0001c0002t0003g0249	13	318	0.0409	22	c.264 others(41): Show c.264-23262_264-23241dupCACACACACACACACACACACA	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FAM81B_chr5_95386366_95455441	95400433	T T	TACATACA others(15): Show TACATACATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp1 HG02723.hp1 others(4): Show HG02451.hp2 HG02559.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0128 a0001c0002t0001g0179 a0001c0002t0001g0184 others(4): Show a0001c0002t0001g0128 a0001c0002t0001g0179 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0002g0127 a0001c0002t0002g0186 a0001c0002t0002g0327	7	348	0.0201	22	c.293 others(39): Show c.293+4261_293+4262insTACATACACACACACACACACA	FAM81B	ENSG00000153347.10	transcript	ENST00000283357.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM81B_chr5_95386366_95455441	95400433	T T	TACATACA others(15): Show TACATACATACATACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02895.hp1 HG02897.hp1 others(2): Show HG02559.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0119 a0001c0002t0001g0180 a0001c0002t0001g0191 others(2): Show a0001c0001t0002g0119 a0001c0002t0001g0180 a0001c0002t0001g0191 a0001c0002t0002g0023 a0001c0002t0002g0024	5	348	0.0144	22	c.293 others(39): Show c.293+4261_293+4262insTACATACATACACACACACACA	FAM81B	ENSG00000153347.10	transcript	ENST00000283357.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM81B_chr5_95386366_95455441	95400433	T T	TACATACA others(15): Show TACATACATACATACATACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0177 a0001c0002t0001g0177	1	348	0.0029	22	c.293 others(39): Show c.293+4261_293+4262insTACATACATACATACACACACA	FAM81B	ENSG00000153347.10	transcript	ENST00000283357.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM81B_chr5_95386366_95455441	95426094	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02071.hp1 HG02809.hp1 HG00673.hp2 HG02071.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0002g0110 a0001c0001t0001g0011 a0001c0001t0002g0110	3	348	0.0086	22	c.657 others(39): Show c.657-2501_657-2480dupATATATATATATATATATATAT	FAM81B	ENSG00000153347.10	transcript	ENST00000283357.10	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM81B_chr5_95386366_95455441	95439236	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03130.hp2 HG03225.hp2 others(3): Show HG01934.hp2 HG03130.hp2 HG03225.hp2 HG03453.hp2 HG03710.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0075 a0001c0001t0002g0091 a0001c0001t0002g0114 others(3): Show a0001c0001t0001g0075 a0001c0001t0002g0091 a0001c0001t0002g0114 a0001c0001t0002g0253 a0001c0001t0002g0284 a0001c0002t0001g0184	6	348	0.0172	22	c.893 others(39): Show c.893+2338_893+2359dupATATATATATATATATATATAT	FAM81B	ENSG00000153347.10	transcript	ENST00000283357.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM89A_chr1_231013958_231045254	231024520	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18998.hp2 NA20129.hp1 NA18982.hp1 NA18998.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0168 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0001g0168 a0001c0001t0002g0126 a0001c0001t0002g0127	3	450	0.0067	22	c.292 others(39): Show c.292-4416_292-4395dupTGTGTGTGTGTGTGTGTGTGTG	FAM89A	ENSG00000182118.8	transcript	ENST00000366654.5	protein_coding	1/1			chr1	TogoVar
FAN1_chr15_30898915_30948108	30929773	A A	ATCATATA others(15): Show ATCATATATAATATATATAAAAT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	303	0.0033	22	c.278 others(39): Show c.2787+376_2787+377insTCATATATAATATATATAAAAT	FAN1	ENSG00000198690.10	transcript	ENST00000362065.9	protein_coding	12/14			chr15	TogoVar
FANCA_chr16_89732549_89821647	89759318	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0256 a0004c0004t0002g0256	1	334	0.0030	22	c.285 others(39): Show c.2853-635_2853-614dupTTTTTTTTTTTTTTTTTTTTTT	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	29/42			chr16	TogoVar
FANCC_chr9_95094054_95322709	95170637	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	278	0.0036	22	c.521 others(37): Show c.521+420_521+441dupACACACACACACACACACACAC	FANCC	ENSG00000158169.14	transcript	ENST00000289081.8	protein_coding	6/14			chr9	TogoVar
FANCD2_chr3_10021437_10106932	10036086	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01928.hp2 HG02273.hp1 others(3): Show HG01358.hp2 HG01928.hp2 HG02273.hp1 HG02273.hp2 HG02602.hp2 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0020 a0002c0002 a0002c0020	a0002c0002t0002 a0002c0002t0005 a0002c0002t0017 others(1): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0017 a0002c0020t0002	a0002c0002t0002g0212 a0002c0002t0002g0224 a0002c0002t0002g0228 others(3): Show a0002c0002t0002g0212 a0002c0002t0002g0224 a0002c0002t0002g0228 a0002c0002t0005g0217 a0002c0002t0017g0178 a0002c0020t0002g0227	6	242	0.0248	22	c.439 others(37): Show c.439-182_439-181insTTTTTTTTTTTTTTTTTTTTTT	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	6/43		INFO_REALIGN_3_PRIME	chr3	TogoVar
FANK1_chr10_125891564_126014592	125914280	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	370	0.0027	22	c.13+ others(39): Show c.13+17637_13+17638insATATATATATATATATATATAT	FANK1	ENSG00000203780.12	transcript	ENST00000368693.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
FANK1_chr10_125891564_126014592	125918585	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0344 a0001c0001t0001g0344	1	370	0.0027	22	c.13+ others(39): Show c.13+21932_13+21953dupTATATATATATATATATATATA	FANK1	ENSG00000203780.12	transcript	ENST00000368693.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
FANK1_chr10_125891564_126014592	125919195	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01943.hp2 HG02523.hp1 others(4): Show HG00642.hp1 HG01943.hp2 HG02523.hp1 NA18970.hp2 NA19063.hp1 NA19087.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0105 a0001c0001t0001g0114 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0355	7	370	0.0189	22	c.13+ others(39): Show c.13+22547_13+22568dupTTTTTTTTTTTTTTTTTTTTTT	FANK1	ENSG00000203780.12	transcript	ENST00000368693.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
FANK1_chr10_125891564_126014592	125991250	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	370	0.0027	22	c.316 others(39): Show c.316+2582_316+2603dupGTGTGTGTGTGTGTGTGTGTGT	FANK1	ENSG00000203780.12	transcript	ENST00000368693.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
FARP1_chr13_98138094_98460176	98207908	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0036 a0001c0001t0005g0036	1	218	0.0046	22	c.-23 others(39): Show c.-23-5272_-23-5251dupACACACACACACACACACACAC	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98259882	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA20905.hp1 HG01981.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0062 a0001c0001t0004g0188 a0001c0001t0001g0062 a0001c0001t0004g0188	2	218	0.0092	22	c.171 others(41): Show c.171+46486_171+46507dupGTGTGTGTGTGTGTGTGTGTGT	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98277109	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01346.hp1 HG01358.hp1 others(6): Show HG01192.hp2 HG01346.hp1 HG01358.hp1 HG01978.hp2 HG02055.hp2 HG02257.hp2 HG02300.hp2 NA18612.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0073 a0001c0002t0001 a0001c0002t0009 a0001c0002t0072 a0001c0004t0041	a0001c0001t0002g0043 a0001c0001t0005g0082 a0001c0001t0011g0120 others(6): Show a0001c0001t0002g0043 a0001c0001t0005g0082 a0001c0001t0011g0120 a0001c0001t0073g0146 a0001c0002t0001g0067 a0001c0002t0001g0115 a0001c0002t0009g0181 a0001c0002t0072g0157 a0001c0004t0041g0185	9	218	0.0413	22	c.171 others(41): Show c.171+63715_171+63736dupACACACACACACACACACACAC	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP2_chr2_241351285_241499841	241366129	A A	ATATATAC others(15): Show ATATATACATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0147 a0005c0008t0001g0147	1	378	0.0027	22	c.-24 others(39): Show c.-24-6949_-24-6948insCATATATATATATACGTATATA	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
FARS2_chr6_5256513_5776583	5341235	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	170	0.0059	22	c.-21 others(41): Show c.-21-27314_-21-27313insATATATATATATATATATATTT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5341235	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	170	0.0059	22	c.-21 others(41): Show c.-21-27314_-21-27313insATATATATATATATATTTTTTT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5407043	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG06807.hp1 NA18522.hp1 others(2): Show HG00438.hp2 HG06807.hp1 NA18522.hp1 NA18970.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0002g0116 a0001c0001t0002g0131	5	170	0.0294	22	c.772 others(39): Show c.772+2345_772+2366dupTATATATATATATATATATATA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5407066	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA19005.hp2 HG04228.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0059 a0001c0001t0002g0130 a0001c0001t0001g0059 a0001c0001t0002g0130	2	170	0.0118	22	c.772 others(39): Show c.772+2366_772+2367insTATATATATATATATATATAAA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5534844	T T	TACACACT others(15): Show TACACACTTGCACGCGCACACAC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01952.hp2 HG01993.hp2 others(19): Show HG01258.hp1 HG01952.hp2 HG01993.hp2 HG02109.hp1 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02809.hp2 HG03017.hp2 HG03492.hp1 HG03834.hp1 HG03834.hp2 HG04199.hp2 NA18522.hp2 NA18906.hp2 NA18942.hp1 NA18950.hp1 NA18955.hp1 NA19005.hp1 NA19043.hp1 NA19082.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0035 others(19): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0080 a0001c0001t0002g0108 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0003g0164 a0001c0003t0001g0040 a0002c0002t0001g0022 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0062 a0002c0002t0001g0070 a0002c0002t0001g0072	22	170	0.1294	22	c.905 others(41): Show c.905-10329_905-10308dupTTGCACGCGCACACACACACAC	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5539384	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03041.hp1 NA18906.hp1 HG02572.hp1 HG03041.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0001t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0002g0098 a0001c0001t0003g0157 a0001c0003t0002g0166 a0001c0001t0002g0098 a0001c0001t0003g0157 a0001c0003t0002g0166	3	170	0.0177	22	c.905 others(39): Show c.905-5781_905-5780insATATATATATATATATATATAT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar

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