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
ACAP3_chr1_1287391_1312930	1288701	C C	CCGTGTCT others(7): Show CCGTGTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0034	1	295	0.0034	14	c.48 others(25): Show c.4862_*4863insACGGAGCAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3689		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288813	C C	CCGTGTCT others(7): Show CCGTGTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	295	0.0034	14	c.47 others(25): Show c.4750_*4751insACGGAGCAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3577		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289679	C C	CTGCTCCG others(7): Show CTGCTCCGTCCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	295	0.0034	14	c.38 others(25): Show c.3884_*3885insCACGGGACGGAGCA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2711		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289715	C C	CTGCTCCG others(7): Show CTGCTCCGTCCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	295	0.0034	14	c.38 others(25): Show c.3848_*3849insCACGGGACGGAGCA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2675		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289850	C C	CCTGCCCC others(7): Show CCTGCCCCGTCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	295	0.0034	14	c.37 others(25): Show c.3713_*3714insACGGGACGGGGCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2540		chr1	TogoVar
ACAT1_chr11_108116567_108152603	108131354	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02109.hp2 HG02647.hp2 others(2): Show HG01070.hp2 HG02109.hp2 HG02647.hp2 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0318 a0001c0001t0004g0319 others(1): Show a0001c0001t0004g0028 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0320	5	386	0.0130	14	c.73- others(27): Show c.73-548_73-535dupTTTTTTTTTTTTTT	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACAT1_chr11_108116567_108152603	108151631	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0020 a0001c0003t0003g0020	1	386	0.0026	14	c.42 others(25): Show c.4241_*4242insAAAAAAAAAAAAAA	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding		4029		chr11	TogoVar
ACAT2_chr6_159757045_159784112	159763629	C C	CTTTTTTT others(7): Show CTTTTTTTTCCTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	404	0.0025	14	c.190 others(29): Show c.190+584_190+585insCCTTTTTTTTTTTT	ACAT2	ENSG00000120437.9	transcript	ENST00000367048.5	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
ACBD3_chr1_226139679_226191741	226178574	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0258 a0001c0001t0010g0258	1	396	0.0025	14	c.286 others(31): Show c.286+7802_286+7815dupTTTTTTTTTTTTTT	ACBD3	ENSG00000182827.9	transcript	ENST00000366812.6	protein_coding	1/7			chr1	TogoVar
ACBD5_chr10_27190214_27245797	27228789	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02976.hp1 HG00323.hp1 HG02976.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0201 a0002c0004t0001g0206 a0002c0004t0001g0201 a0002c0004t0001g0206	2	384	0.0052	14	c.375 others(31): Show c.375+2958_375+2959insTATATATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228791	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	384	0.0026	14	c.375 others(31): Show c.375+2943_375+2956dupTATATATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(7): Show ATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	384	0.0026	14	c.375 others(31): Show c.375+2932_375+2933insAAAAAATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD6_chr1_180283230_180507577	180328180	T T	TTTTTAAC others(7): Show TTTTTAACTGCTAAA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19007.hp2 NA19005.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0036 a0001c0001t0001g0037	2	334	0.0060	14	c.664 others(33): Show c.664-13459_664-13458insTTTAGCAGTTAAAA	ACBD6	ENSG00000230124.8	transcript	ENST00000367595.4	protein_coding	6/7			chr1	TogoVar
ACBD6_chr1_180283230_180507577	180493247	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	334	0.0030	14	c.288 others(29): Show c.288-896_288-883dupTTTTTTTTTTTTTT	ACBD6	ENSG00000230124.8	transcript	ENST00000367595.4	protein_coding	2/7			chr1	TogoVar
ACCSL_chr11_44042981_44064977	44064562	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 NA20300.hp1 HG02809.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0030 a0004c0006t0001g0030 a0001c0001t0001g0030 a0004c0006t0001g0030	2	446	0.0045	14	c.46 others(25): Show c.4642_*4643insTGTGTGTGTGTGTG	ACCSL	ENSG00000205126.2	transcript	ENST00000378832.1	protein_coding		4586		chr11	TogoVar
ACCS_chr11_44061270_44089237	44064562	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 NA20300.hp2 HG02809.hp2 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0004 a0006c0007t0001 a0001c0001t0004 a0006c0007t0001	a0001c0001t0004g0087 a0006c0007t0001g0086 a0001c0001t0004g0087 a0006c0007t0001g0086	2	438	0.0046	14	c.-21 others(25): Show c.-2140_-2139insTGTGTGTGTGTGTG	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding		1707		chr11	TogoVar
ACE2_chrX_15556033_15605960	15562655	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03516.hp2 HG03139.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0155 a0001c0001t0001g0156	2	264	0.0076	14	c.231 others(31): Show c.2310-656_2310-643dupATATATATATATAT	ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding	17/17			chrX	TogoVar
ACE2_chrX_15556033_15605960	15601481	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG03209.hp1 HG03516.hp1 HG02723.hp1 HG03209.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0043	3	264	0.0114	14	c.-57 others(23): Show c.-571_-570insAACAAAAAAAAAAA	ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding		522		chrX	TogoVar
ACE2_chrX_15556033_15605960	15601489	T T	TTTTGTTT others(7): Show TTTTGTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG03579.hp1 HG01070.hp2 HG01071.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047	3	264	0.0114	14	c.-57 others(23): Show c.-579_-578insCAAAAAAAAACAAA	ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding		530		chrX	TogoVar
ACER2_chr9_19404009_19457505	19439344	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG02895.hp2 others(2): Show HG02615.hp2 HG02630.hp2 HG02895.hp2 HG02965.hp2 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0010 a0003c0004t0004 a0001c0003t0010 a0003c0004t0004	a0001c0003t0010g0311 a0001c0003t0010g0312 a0001c0003t0010g0315 others(2): Show a0001c0003t0010g0311 a0001c0003t0010g0312 a0001c0003t0010g0315 a0001c0003t0010g0316 a0003c0004t0004g0313	5	358	0.0140	14	c.503 others(31): Show c.503+4273_503+4274insTTTTTTTTTTTTTT	ACER2	ENSG00000177076.6	transcript	ENST00000340967.3	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
ACER3_chr11_76855918_77031797	76875107	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0306 a0002c0004t0006g0306	1	346	0.0029	14	c.103 others(33): Show c.103+14041_103+14054dupTTTTTTTTTTTTTT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	76933173	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(27): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00639.hp1 HG00733.hp1 HG01070.hp1 HG01071.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01358.hp2 HG02280.hp2 HG03490.hp1 HG03492.hp1 HG03927.hp1 HG06807.hp1 NA18943.hp1 NA18946.hp2 NA18963.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18983.hp2 NA18999.hp1 NA19005.hp2 NA19056.hp1 NA19065.hp1 NA19085.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(12): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0028 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0056 a0001c0001t0058 a0001c0001t0061 a0001c0001t0063 a0001c0001t0069 a0001c0005t0047	a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0140 others(27): Show a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0168 a0001c0001t0002g0176 a0001c0001t0002g0180 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0005g0184 a0001c0001t0012g0134 a0001c0001t0012g0143 a0001c0001t0012g0146 a0001c0001t0028g0100 a0001c0001t0028g0186 a0001c0001t0050g0132 a0001c0001t0051g0145 a0001c0001t0052g0167 a0001c0001t0054g0164 a0001c0001t0056g0155 a0001c0001t0058g0190 a0001c0001t0061g0187 a0001c0001t0063g0174 a0001c0001t0069g0079 a0001c0005t0047g0005	30	346	0.0867	14	c.214 others(31): Show c.214+6513_214+6526dupATATATATATATAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77024272	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0083 a0001c0001t0093g0083	1	346	0.0029	14	c.39 others(25): Show c.3961_*3974dupAAAAAAAAAAAAAA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	11/11	3975	INFO_REALIGN_3_PRIME	chr11	TogoVar
ACIN1_chr14_23053564_23100136	23094104	C C	CCACACAA others(7): Show CCACACAAACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00558.hp1 others(72): Show HG00099.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02027.hp1 HG02056.hp1 HG02132.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02683.hp1 HG02735.hp1 HG03017.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 NA18939.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18953.hp2 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18973.hp2 NA18974.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18993.hp2 NA19009.hp2 NA19057.hp2 NA19062.hp2 NA19064.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1	a0001 a0011 a0014 others(2): Show a0001 a0011 a0014 a0015 a0016	a0001c0001 a0001c0007 a0001c0012 others(5): Show a0001c0001 a0001c0007 a0001c0012 a0001c0024 a0011c0020 a0014c0023 a0015c0025 a0016c0027	a0001c0001t0001 a0001c0007t0001 a0001c0007t0002 others(6): Show a0001c0001t0001 a0001c0007t0001 a0001c0007t0002 a0001c0012t0001 a0001c0024t0001 a0011c0020t0001 a0014c0023t0001 a0015c0025t0001 a0016c0027t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(59): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0007t0001g0021 a0001c0007t0001g0022 a0001c0007t0001g0257 a0001c0007t0001g0263 a0001c0007t0001g0276 a0001c0007t0002g0287 a0001c0012t0001g0246 a0001c0012t0001g0247 a0001c0012t0001g0248 a0001c0024t0001g0290 a0011c0020t0001g0266 a0014c0023t0001g0267 a0015c0025t0001g0291 a0016c0027t0001g0292	75	350	0.2143	14	c.139 others(29): Show c.139-574_139-561dupTGTGTGTTTGTGTG	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	1/18			chr14	TogoVar
ACLY_chr17_41861918_41923951	41879647	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02451.hp1 HG02698.hp1 others(3): Show HG02083.hp1 HG02451.hp1 HG02698.hp1 HG02976.hp2 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0018 a0001c0001t0001g0051 a0001c0001t0001g0138 others(3): Show a0001c0001t0001g0018 a0001c0001t0001g0051 a0001c0001t0001g0138 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0003t0001g0235	6	294	0.0204	14	c.226 others(31): Show c.2266-737_2266-724dupTTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	20/28			chr17	TogoVar
ACLY_chr17_41861918_41923951	41882367	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 NA18978.hp2 others(1): Show HG02622.hp2 HG02630.hp1 NA18978.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0089 a0001c0001t0001g0106 others(1): Show a0001c0001t0001g0056 a0001c0001t0001g0089 a0001c0001t0001g0106 a0001c0001t0001g0124	4	294	0.0136	14	c.226 others(31): Show c.2265+741_2265+754dupTTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	20/28			chr17	TogoVar
ACLY_chr17_41861918_41923951	41889524	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02922.hp1 NA18975.hp2 others(1): Show HG02738.hp1 HG02922.hp1 NA18975.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0066 a0001c0001t0001g0171 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0066 a0001c0001t0001g0171 a0001c0001t0001g0179	4	294	0.0136	14	c.177 others(33): Show c.1771-1835_1771-1822dupTTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	16/28			chr17	TogoVar
ACLY_chr17_41861918_41923951	41900069	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0252 a0002c0002t0002g0252	1	294	0.0034	14	c.118 others(33): Show c.1184-1298_1184-1285dupTTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	11/28			chr17	TogoVar
ACMSD_chr2_134833616_134907034	134833921	T T	TAGAAGCA others(7): Show TAGAAGCAGAGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	382	0.0026	14	c.-47 others(25): Show c.-4762_-4761insAGAAGCAGAGAGGG	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		4694		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134840167	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG02080.hp2 others(8): Show HG01192.hp2 HG01243.hp2 HG02080.hp2 HG02258.hp2 HG03540.hp2 HG03927.hp1 NA18940.hp2 NA18959.hp1 NA18983.hp1 NA18984.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(8): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0367	11	382	0.0288	14	c.57+ others(29): Show c.57+1441_57+1454dupAAAAAAAAAAAAAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134840180	A A	AAAAAAAA others(7): Show AAAAAAAAACAAAAC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19089.hp1 NA18970.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0201 a0001c0001t0001g0202	2	382	0.0052	14	c.57+ others(29): Show c.57+1449_57+1450insCAAAACAAAAAAAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134840180	A A	AAAAAAAA others(7): Show AAAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	382	0.0026	14	c.57+ others(29): Show c.57+1448_57+1449insCAAAAACAAAAAAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134840194	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00609.hp2 others(19): Show HG00408.hp1 HG00544.hp1 HG00609.hp2 HG01952.hp2 HG01978.hp1 HG02155.hp2 HG02165.hp1 HG02300.hp1 HG02735.hp2 HG03491.hp1 HG03942.hp2 NA18939.hp1 NA18942.hp1 NA18944.hp2 NA18952.hp2 NA18959.hp2 NA18961.hp2 NA18971.hp2 NA18999.hp2 NA19003.hp2 NA19005.hp2 NA19060.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0009 a0004c0005 others(1): Show a0001c0001 a0001c0009 a0004c0005 a0005c0007	a0001c0001t0001 a0001c0009t0001 a0004c0005t0001 others(1): Show a0001c0001t0001 a0001c0009t0001 a0004c0005t0001 a0005c0007t0001	a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 others(19): Show a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0009t0001g0169 a0004c0005t0001g0173 a0005c0007t0001g0157	22	382	0.0576	14	c.57+ others(29): Show c.57+1455_57+1456insAAAAAAAAAAAAAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	1/9			chr2	TogoVar
ACMSD_chr2_134833616_134907034	134845509	G G	GTCTCTCT others(7): Show GTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp2 HG00735.hp1 others(5): Show HG00642.hp1 HG00673.hp2 HG00735.hp1 HG01243.hp1 NA18978.hp1 NA19007.hp1 NA19055.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 others(5): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0360	8	382	0.0209	14	c.102 others(29): Show c.102+265_102+278dupTCTCTCTCTCTCTC	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134903897	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02145.hp2 NA18990.hp2 others(2): Show HG02071.hp2 HG02145.hp2 NA18990.hp2 NA18993.hp2 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0254 others(2): Show a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0276 a0002c0002t0001g0179	5	382	0.0131	14	c.20 others(25): Show c.2037_*2038insTTTTTTTTTTTTTT	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		1864		chr2	TogoVar
ACO2_chr22_41464117_41533974	41527217	G G	GCAGGTAG others(7): Show GCAGGTAGGGCCAGA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	334	0.0030	14	c.195 others(29): Show c.1954-65_1954-52dupAGGGCCAGACAGGT	ACO2	ENSG00000100412.17	transcript	ENST00000216254.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr22	TogoVar
ACOD1_chr13_76943511_76963638	76944257	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02630.hp1 HG02897.hp1 others(2): Show HG02486.hp1 HG02630.hp1 HG02897.hp1 HG02965.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0002t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0002t0001g0009	5	434	0.0115	14	c.-43 others(25): Show c.-4302_-4301insAAAAAAAAAAAAAA	ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding		4253		chr13	TogoVar
ACOT13_chr6_24662077_24710046	24682672	A A	AGTGGCGG others(7): Show AGTGGCGGGTCTGCG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03486.hp1 HG02630.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0203 a0001c0001t0010g0204 a0001c0001t0010g0203 a0001c0001t0010g0204	2	402	0.0050	14	c.82- others(31): Show c.82-15206_82-15205insGGGTCTGCGGTGGC	ACOT13	ENSG00000112304.11	transcript	ENST00000230048.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
ACOT7_chr1_6259272_6398767	6375155	T T	TAGTCCCA others(7): Show TAGTCCCAGCTACTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02258.hp2 others(4): Show HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02615.hp1 HG02809.hp2 HG03225.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009	a0001c0001t0003g0154 a0001c0001t0003g0157 a0001c0001t0003g0158 others(4): Show a0001c0001t0003g0154 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0004g0206 a0001c0001t0009g0153 a0001c0001t0009g0155 a0001c0001t0009g0156	7	240	0.0292	14	c.143 others(33): Show c.143+18101_143+18102insGAGTAGCTGGGACT	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	1/8			chr1	TogoVar
ACOT7_chr1_6259272_6398767	6385318	C C	CTGAGGGT others(7): Show CTGAGGGTGGCCACT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01109.hp1 HG01167.hp2 others(49): Show HG00423.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01891.hp1 HG02074.hp1 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG03834.hp2 HG06807.hp1 NA18612.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp2 NA18955.hp2 NA18962.hp1 NA18970.hp1 NA18975.hp1 NA18977.hp1 NA18982.hp2 NA18985.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19057.hp2 NA19066.hp2 NA19079.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0002t0002	a0001c0001t0002g0001 a0001c0001t0002g0098 a0001c0001t0002g0099 others(48): Show a0001c0001t0002g0001 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0003g0154 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0004g0206 a0001c0001t0007g0123 a0001c0001t0007g0124 a0001c0001t0007g0125 a0001c0001t0007g0126 a0001c0001t0008g0003 a0001c0001t0008g0004 a0001c0001t0008g0005 a0001c0001t0009g0153 a0001c0001t0009g0155 a0001c0001t0009g0156 a0001c0002t0002g0121	52	240	0.2167	14	c.143 others(31): Show c.143+7925_143+7938dupAGTGGCCACCCTCA	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	1/8			chr1	TogoVar
ACOT9_chrX_23696055_23748276	23740717	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19012.hp1 NA18970.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0286 a0001c0001t0009g0287 a0001c0001t0002g0286 a0001c0001t0009g0287	2	309	0.0065	14	c.20+ others(29): Show c.20+2394_20+2407dupGTGTGTGTGTGTGT	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	1/15			chrX	TogoVar
ACOT9_chrX_23696055_23748276	23742209	T T	TGAGAGAG others(7): Show TGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG02071.hp1 others(24): Show HG00408.hp1 HG00642.hp1 HG02071.hp1 HG02145.hp1 HG02165.hp2 HG02965.hp1 HG03490.hp1 HG03688.hp1 NA18522.hp1 NA18939.hp1 NA18947.hp2 NA18952.hp1 NA18959.hp1 NA18964.hp1 NA18974.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18994.hp1 NA19074.hp2 NA19085.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0004 a0006c0008 a0001c0001 a0003c0004 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0020 a0001c0001t0046 a0003c0004t0014 a0006c0008t0019	a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0114 others(24): Show a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0111 a0001c0001t0003g0104 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0004g0116 a0001c0001t0004g0215 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0007g0100 a0001c0001t0008g0021 a0001c0001t0011g0023 a0001c0001t0011g0026 a0001c0001t0011g0027 a0001c0001t0020g0097 a0001c0001t0046g0216 a0003c0004t0014g0022 a0006c0008t0019g0113	27	309	0.0874	14	c.20+ others(27): Show c.20+915_20+916insTCTCTCTCTCTCTC	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	1/15			chrX	TogoVar
ACOT9_chrX_23696055_23748276	23742256	G G	GAGAGAGA others(7): Show GAGAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02109.hp1 HG02723.hp2 HG01261.hp1 HG02109.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0005 a0001c0001t0012	a0001c0001t0005g0078 a0001c0001t0012g0077 a0001c0001t0012g0079 a0001c0001t0005g0078 a0001c0001t0012g0077 a0001c0001t0012g0079	3	309	0.0097	14	c.20+ others(27): Show c.20+868_20+869insATCTCTCTCTCTCT	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	1/15			chrX	TogoVar
ACOX1_chr17_75936507_75984166	75968435	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	1	344	0.0029	14	c.270 others(31): Show c.270-8074_270-8061dupTTTTTTTTTTTTTT	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75970184	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA21309.hp1 HG03492.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0003 a0003c0005t0055 a0001c0001t0003 a0003c0005t0055	a0001c0001t0003g0078 a0003c0005t0055g0157 a0001c0001t0003g0078 a0003c0005t0055g0157	2	344	0.0058	14	c.269 others(31): Show c.269+8336_269+8349dupTTTTTTTTTTTTTT	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACOX2_chr3_58500136_58542190	58527536	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG01106.hp1 others(27): Show HG00621.hp1 HG00735.hp2 HG01106.hp1 HG01109.hp2 HG01243.hp1 HG02055.hp1 HG02056.hp2 HG02572.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp2 NA18949.hp2 NA18972.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19005.hp2 NA19063.hp1 NA19079.hp2 NA19089.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0004c0011	a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 others(6): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0003t0002 a0001c0004t0001 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0004c0011t0001	a0001c0002t0001g0066 a0001c0002t0001g0085 a0001c0002t0001g0086 others(27): Show a0001c0002t0001g0066 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0256 a0001c0002t0001g0260 a0001c0002t0004g0035 a0001c0002t0006g0090 a0001c0003t0002g0268 a0001c0003t0002g0276 a0001c0003t0002g0277 a0001c0003t0002g0278 a0001c0003t0002g0279 a0001c0003t0002g0286 a0001c0004t0001g0037 a0001c0004t0001g0100 a0001c0004t0001g0101 a0001c0005t0001g0290 a0001c0005t0002g0301 a0001c0005t0002g0305 a0001c0005t0002g0306 a0001c0005t0003g0291 a0001c0005t0003g0292 a0004c0011t0001g0057	30	364	0.0824	14	c.115 others(31): Show c.1156-894_1156-881dupTTTTTTTTTTTTTT	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	9/14			chr3	TogoVar
ACOX2_chr3_58500136_58542190	58527536	G G	GGAAAAAA others(7): Show GGAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0040 a0001c0004t0001g0040	1	364	0.0028	14	c.115 others(31): Show c.1156-881_1156-880insTTTTTTTTTTTTTC	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	9/14			chr3	TogoVar
ACOX2_chr3_58500136_58542190	58541624	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(15): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00673.hp1 HG00741.hp2 HG01070.hp2 HG01256.hp1 HG01361.hp2 HG02622.hp2 HG03017.hp2 HG03041.hp2 HG03579.hp2 HG03704.hp2 NA18947.hp2 NA18978.hp2 NA19002.hp2 NA20129.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0003c0012	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0003c0012t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0028 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0112 a0001c0001t0001g0122 a0001c0001t0001g0168 a0001c0001t0001g0180 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0002t0001g0015 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0004t0001g0100 a0003c0012t0001g0107	18	364	0.0495	14	c.-45 others(25): Show c.-4598_-4597insCACACACACACACA	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding		4435		chr3	TogoVar
ACOX3_chr4_8361282_8445723	8409730	C C	CGGGGGGG others(7): Show CGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	380	0.0026	14	c.687 others(29): Show c.687+481_687+482insCCCCCCCCCCCCCC	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	6/17			chr4	TogoVar
ACOXL_chr2_110727573_111123548	110768492	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp1 NA19030.hp1 HG01891.hp2 HG02258.hp1 NA19030.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0010 a0001c0001 a0011c0010	a0001c0001t0001 a0011c0010t0002 a0001c0001t0001 a0011c0010t0002	a0001c0001t0001g0008 a0001c0001t0001g0012 a0011c0010t0002g0009 a0001c0001t0001g0008 a0001c0001t0001g0012 a0011c0010t0002g0009	3	150	0.0200	14	c.75+ others(25): Show c.75+37_75+50dupTGTGTGTGTGTGTG	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr2	TogoVar

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