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
AUTS2_chr7_69593475_70798506	69773501	AAGCCTTT others(9): Show AAGCCTTTGGCTTGGGG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0003 a0001c0001t0018g0003	1	76	0.0132	-16	c.310 others(37): Show c.310-125783_310-125768delGCCTTTGGCTTGGGGA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69876484	GTATATAT others(9): Show GTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02055.hp1 HG02258.hp2 others(2): Show HG01433.hp1 HG02055.hp1 HG02258.hp2 HG02630.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0011 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0019 a0001c0003t0008	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0011g0041 others(2): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0011g0041 a0001c0001t0019g0075 a0001c0003t0008g0069	5	76	0.0658	-16	c.310 others(35): Show c.310-22756_310-22741delATATATATATATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69888540	GATATATA others(9): Show GATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0027 a0001c0007t0006g0027	1	76	0.0132	-16	c.310 others(35): Show c.310-10729_310-10714delATATATATATATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69926441	GTCTGTCT others(9): Show GTCTGTCTATCTATCTA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp2 HG03239.hp1 others(1): Show HG02630.hp1 HG02647.hp2 HG03239.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 a0001c0001t0035	a0001c0001t0001g0030 a0001c0001t0003g0035 a0001c0001t0020g0029 others(1): Show a0001c0001t0001g0030 a0001c0001t0003g0035 a0001c0001t0020g0029 a0001c0001t0035g0019	4	76	0.0526	-16	c.522 others(35): Show c.522+26947_522+26962delGTCTATCTATCTATCT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69946557	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp1 HG02615.hp1 others(3): Show HG01081.hp1 HG01884.hp1 HG02615.hp1 HG03516.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018	a0001c0001t0001g0036 a0001c0001t0006g0038 a0001c0001t0014g0070 others(3): Show a0001c0001t0001g0036 a0001c0001t0006g0038 a0001c0001t0014g0070 a0001c0001t0015g0001 a0001c0001t0016g0002 a0001c0001t0018g0003	6	76	0.0790	-16	c.522 others(35): Show c.522+47094_522+47109delACACACACACACACAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69948773	CATTTATT others(9): Show CATTTATTTATTTATTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03516.hp2 NA20752.hp1 others(1): Show HG02615.hp1 HG03516.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 others(1): Show a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018	a0001c0001t0014g0070 a0001c0001t0015g0001 a0001c0001t0016g0002 others(1): Show a0001c0001t0014g0070 a0001c0001t0015g0001 a0001c0001t0016g0002 a0001c0001t0018g0003	4	76	0.0526	-16	c.522 others(35): Show c.522+49308_522+49323delATTTATTTATTTATTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70043547	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01175.hp1 HG01884.hp1 others(7): Show HG01081.hp1 HG01175.hp1 HG01884.hp1 HG02615.hp1 HG02630.hp1 HG03239.hp1 HG03453.hp2 HG04199.hp1 NA18612.hp2 NA18952.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 a0001c0001t0020 a0003c0006t0003	a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0036 others(7): Show a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0003g0031 a0001c0001t0003g0035 a0001c0001t0006g0038 a0001c0001t0014g0070 a0001c0001t0020g0029 a0003c0006t0003g0034	10	76	0.1316	-16	c.523 others(35): Show c.523-74540_523-74525delCCTTCCTTCCTTCCTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70081935	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03041.hp1 HG03139.hp2 HG01081.hp2 HG03041.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0005 a0001c0005t0030 a0001c0001t0005 a0001c0005t0030	a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0005t0030g0013 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0005t0030g0013	3	76	0.0395	-16	c.523 others(35): Show c.523-36181_523-36166delTGTGTGTGTGTGTGTG	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70108783	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01175.hp1 HG01243.hp2 others(14): Show HG01081.hp1 HG01175.hp1 HG01243.hp2 HG01884.hp1 HG02165.hp2 HG02257.hp2 HG02615.hp1 HG02630.hp1 HG03239.hp1 HG03453.hp2 HG04199.hp1 NA18612.hp2 NA18952.hp2 NA19030.hp2 NA19240.hp2 NA20752.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0004t0012 a0001c0004t0013 a0001c0007t0006 a0003c0006t0003	a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0036 others(14): Show a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0003g0031 a0001c0001t0003g0035 a0001c0001t0006g0010 a0001c0001t0006g0038 a0001c0001t0014g0070 a0001c0001t0015g0001 a0001c0001t0016g0002 a0001c0001t0020g0029 a0001c0001t0022g0032 a0001c0004t0012g0024 a0001c0004t0013g0025 a0001c0007t0006g0027 a0003c0006t0003g0034	17	76	0.2237	-16	c.523 others(33): Show c.523-9333_523-9318delAAAAAAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70125245	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01175.hp2 others(15): Show HG00099.hp2 HG01081.hp2 HG01175.hp2 HG01952.hp2 HG02055.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG04199.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0010	a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 others(10): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0003t0027 a0001c0005t0030 a0002c0002t0024 a0002c0002t0026 a0002c0002t0031 a0002c0010t0033	a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 others(15): Show a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0005g0020 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0009g0023 a0001c0001t0028g0021 a0001c0001t0029g0022 a0001c0001t0032g0016 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0003t0027g0009 a0001c0005t0030g0013 a0002c0002t0024g0059 a0002c0002t0026g0011 a0002c0002t0031g0007 a0002c0010t0033g0014	18	76	0.2368	-16	c.624 others(33): Show c.624+7038_624+7053delGTGTGTGTGTGTGTGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70162445	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0011 a0002c0002t0026g0011	1	76	0.0132	-16	c.660 others(35): Show c.660+27894_660+27909delAAAAAAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70243231	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02615.hp2 HG00280.hp1 HG02615.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0026 a0001c0001t0003 a0002c0002t0026	a0001c0001t0003g0068 a0002c0002t0026g0011 a0001c0001t0003g0068 a0002c0002t0026g0011	2	76	0.0263	-16	c.660 others(37): Show c.660+108694_660+108709delGTGTGTGTGTGTGTGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70278580	AACATACA others(9): Show AACATACATACATACAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG02615.hp1 others(1): Show HG00280.hp1 HG00597.hp1 HG02615.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0001 a0001c0001t0003 a0001c0001t0014	a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0003g0068 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0003g0068 a0001c0001t0014g0070	4	76	0.0526	-16	c.660 others(37): Show c.660+144039_660+144054delCATACATACATACATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70364566	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0039 a0001c0003t0008g0039	1	76	0.0132	-16	c.661 others(35): Show c.661-71150_661-71135delTAAATAAATAAATAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70377325	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02622.hp1 HG03017.hp2 others(3): Show HG02165.hp2 HG02622.hp1 HG03017.hp2 HG04199.hp1 NA18612.hp1 NA18952.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0010 a0003c0006 a0001c0001 a0002c0010 a0003c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0022 a0002c0010t0033 a0003c0006t0003	a0001c0001t0002g0052 a0001c0001t0003g0031 a0001c0001t0005g0020 others(3): Show a0001c0001t0002g0052 a0001c0001t0003g0031 a0001c0001t0005g0020 a0001c0001t0022g0032 a0002c0010t0033g0014 a0003c0006t0003g0034	6	76	0.0790	-16	c.661 others(35): Show c.661-58393_661-58378delTATATATATATATATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70534396	ATTTGTTT others(9): Show ATTTGTTTGTTTGTTTG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	76	0.0132	-16	c.690 others(35): Show c.690+98647_690+98662delGTTTGTTTGTTTGTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70786451	AGACACCA others(9): Show AGACACCACCAGGCTGC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02630.hp2 others(2): Show HG02055.hp1 HG02258.hp1 HG02630.hp2 HG03225.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0011 a0001c0001t0019 a0001c0003t0008 others(1): Show a0001c0001t0011 a0001c0001t0019 a0001c0003t0008 a0002c0002t0036	a0001c0001t0011g0041 a0001c0001t0019g0075 a0001c0003t0008g0039 others(2): Show a0001c0001t0011g0041 a0001c0001t0019g0075 a0001c0003t0008g0039 a0001c0003t0008g0069 a0002c0002t0036g0017	5	76	0.0658	-16	c.230 others(33): Show c.2308+428_2308+443delGCGACACCACCAGGCT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33931349	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01070.hp1 HG02132.hp1 others(5): Show HG00609.hp2 HG01070.hp1 HG02132.hp1 HG02132.hp2 HG02280.hp1 HG02723.hp2 HG02922.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0002g0054 others(5): Show a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0002g0054 a0001c0001t0002g0252 a0001c0001t0004g0143 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149	8	266	0.0301	-16	c.446 others(35): Show c.446-55370_446-55355delAAAAAAAAAAAAAAAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933518	CACACACA others(9): Show CACACACAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG04199.hp1 HG02809.hp1 HG04199.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0003 a0002c0002t0001 a0003c0003t0003	a0002c0002t0001g0079 a0003c0003t0003g0003 a0002c0002t0001g0079 a0003c0003t0003g0003	2	266	0.0075	-16	c.446 others(35): Show c.446-57539_446-57524delCTCTCTCTCTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933520	CACACAGA others(9): Show CACACAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG01192.hp1 others(23): Show HG00738.hp1 HG00738.hp2 HG01192.hp1 HG01258.hp1 HG01891.hp2 HG01952.hp2 HG01978.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02258.hp1 HG02451.hp1 HG02698.hp1 HG02738.hp2 HG03654.hp1 NA18939.hp1 NA18953.hp2 NA18968.hp2 NA18980.hp2 NA18981.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA20905.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0006 a0001c0001 a0002c0002 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0006c0006t0002	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0034 others(23): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0113 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0223 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0002g0232 a0001c0001t0002g0253 a0001c0001t0002g0256 a0002c0002t0001g0062 a0002c0002t0001g0088 a0002c0002t0001g0233 a0006c0006t0002g0234	26	266	0.0977	-16	c.446 others(35): Show c.446-57541_446-57526delCTCTCTCTCTCTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933522	CACAGAGA others(9): Show CACAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG04184.hp1 HG04184.hp2 others(1): Show HG01255.hp2 HG04184.hp1 HG04184.hp2 NA18969.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0064 a0001c0001t0001g0136 a0001c0001t0002g0180 others(1): Show a0001c0001t0001g0064 a0001c0001t0001g0136 a0001c0001t0002g0180 a0002c0002t0001g0086	4	266	0.0150	-16	c.446 others(35): Show c.446-57543_446-57528delCTCTCTCTCTCTCTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	CAGAGAGA others(9): Show CAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02970.hp2 HG02109.hp1 HG02970.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0008 a0001c0001 a0011c0008	a0001c0001t0001 a0011c0008t0001 a0001c0001t0001 a0011c0008t0001	a0001c0001t0001g0140 a0011c0008t0001g0017 a0001c0001t0001g0140 a0011c0008t0001g0017	2	266	0.0075	-16	c.446 others(35): Show c.446-57545_446-57530delCTCTCTCTCTCTCTCT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33962919	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02132.hp1 HG02258.hp2 others(8): Show HG01071.hp1 HG02132.hp1 HG02258.hp2 HG02717.hp1 HG03710.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18987.hp1 NA19064.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0012 a0003c0003 others(1): Show a0001c0001 a0001c0012 a0003c0003 a0007c0005	a0001c0001t0001 a0001c0001t0002 a0001c0012t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0012t0001 a0003c0003t0003 a0007c0005t0007	a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0001g0178 others(8): Show a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0251 a0001c0001t0002g0252 a0001c0012t0001g0164 a0003c0003t0003g0011 a0007c0005t0007g0264	11	266	0.0414	-16	c.445 others(35): Show c.445+40097_445+40112delTTTTTTTTTTTTTTTT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVIL_chr12_57792380_57823734	57818182	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp2 HG02622.hp1 others(7): Show HG02109.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02895.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0059 a0001c0001t0001g0228 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0059 a0001c0001t0001g0228 a0001c0001t0001g0229	10	372	0.0269	-16	c.-20 others(31): Show c.-20+431_-20+446delAAAAAAAAAAAAAAAA	AVIL	ENSG00000135407.11	transcript	ENST00000549994.2	protein_coding	1/19			chr12	TogoVar
AVL9_chr7_32490489_32593726	32503369	TATATACA others(9): Show TATATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03139.hp1 HG03540.hp2 HG02895.hp1 HG03139.hp1 HG03540.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0117 a0001c0008t0118 a0001c0008t0120 a0001c0008t0117 a0001c0008t0118 a0001c0008t0120	a0001c0008t0117g0052 a0001c0008t0118g0053 a0001c0008t0120g0054 a0001c0008t0117g0052 a0001c0008t0118g0053 a0001c0008t0120g0054	3	330	0.0091	-16	c.93+ others(31): Show c.93+7569_93+7584delTATACACACACACACA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32579339	CACATATT others(9): Show CACATATTTTATATAAT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01192.hp1 HG01258.hp2 others(7): Show HG01106.hp2 HG01192.hp1 HG01258.hp2 HG01433.hp1 HG01517.hp2 HG02145.hp1 HG02896.hp2 HG03831.hp1 NA18988.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0024 a0001c0001t0028 others(2): Show a0001c0001t0010 a0001c0001t0024 a0001c0001t0028 a0001c0001t0036 a0001c0001t0099	a0001c0001t0010g0163 a0001c0001t0024g0284 a0001c0001t0024g0287 others(7): Show a0001c0001t0010g0163 a0001c0001t0024g0284 a0001c0001t0024g0287 a0001c0001t0024g0288 a0001c0001t0028g0111 a0001c0001t0028g0242 a0001c0001t0028g0267 a0001c0001t0036g0285 a0001c0001t0036g0286 a0001c0001t0099g0256	10	330	0.0303	-16	c.168 others(33): Show c.1689-878_1689-863delCATATTTTATATAATA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA18941.hp2 NA18942.hp2 others(3): Show HG03490.hp1 NA18941.hp2 NA18942.hp2 NA18952.hp2 NA19074.hp1 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0209 a0002c0002t0001g0236 a0002c0002t0002g0013 others(1): Show a0001c0001t0001g0209 a0002c0002t0001g0236 a0002c0002t0002g0013 a0002c0002t0002g0148	6	446	0.0135	-16	c.287 others(31): Show c.287+723_287+738delACACACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AVPR1A_chr12_63137759_63156201	63138022	TCTCCCTC others(9): Show TCTCCCTCCCTCCCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0104 a0001c0001t0035g0104	1	448	0.0022	-16	c.93 others(27): Show c.9321_*9336delGGAGGGAGGGAGGGAG	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		4736		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63138051	CTCCCTCC others(9): Show CTCCCTCCCTCCTTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 NA18946.hp1 NA18972.hp1 HG00408.hp1 NA18946.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0035 a0001c0001t0004g0037 a0001c0001t0006g0008 a0001c0001t0004g0035 a0001c0001t0004g0037 a0001c0001t0006g0008	3	448	0.0067	-16	c.92 others(27): Show c.9292_*9307delAGGAAGGAGGGAGGGA	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		4707		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63138055	CTCCCTCC others(9): Show CTCCCTCCTTCCTTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG02027.hp2 HG02258.hp1 others(14): Show HG00609.hp2 HG02027.hp2 HG02258.hp1 HG02738.hp1 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG04228.hp2 NA18942.hp2 NA18950.hp1 NA18951.hp1 NA18962.hp1 NA18993.hp1 NA19006.hp1 NA19011.hp2 NA19012.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0036 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0036 a0001c0001t0040	a0001c0001t0002g0006 a0001c0001t0004g0005 a0001c0001t0004g0036 others(5): Show a0001c0001t0002g0006 a0001c0001t0004g0005 a0001c0001t0004g0036 a0001c0001t0004g0062 a0001c0001t0004g0139 a0001c0001t0004g0141 a0001c0001t0036g0105 a0001c0001t0040g0103	17	448	0.0380	-16	c.92 others(27): Show c.9288_*9303delAGGAAGGAAGGAGGGA	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		4703		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63138059	CTCCTTCC others(9): Show CTCCTTCCTTCCTTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG02055.hp1 HG02559.hp2 others(5): Show HG01361.hp2 HG02055.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG03225.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0012 a0001c0001t0007g0041 a0001c0001t0007g0045 others(1): Show a0001c0001t0007g0012 a0001c0001t0007g0041 a0001c0001t0007g0045 a0001c0001t0007g0070	8	448	0.0179	-16	c.92 others(27): Show c.9284_*9299delAGGAAGGAAGGAAGGA	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		4699		chr12	TogoVar
AXDND1_chr1_179360971_179559735	179421035	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG01175.hp1 others(4): Show HG00735.hp1 HG01109.hp2 HG01175.hp1 HG01928.hp2 HG01978.hp2 HG03471.hp2 NA18979.hp1	a0003 a0004 a0005 others(1): Show a0003 a0004 a0005 a0008	a0003c0004 a0004c0005 a0005c0008 others(1): Show a0003c0004 a0004c0005 a0005c0008 a0008c0012	a0003c0004t0001 a0004c0005t0001 a0005c0008t0001 others(1): Show a0003c0004t0001 a0004c0005t0001 a0005c0008t0001 a0008c0012t0001	a0003c0004t0001g0030 a0004c0005t0001g0306 a0005c0008t0001g0355 others(4): Show a0003c0004t0001g0030 a0004c0005t0001g0306 a0005c0008t0001g0355 a0008c0012t0001g0168 a0008c0012t0001g0169 a0008c0012t0001g0170 a0008c0012t0001g0171	7	356	0.0197	-16	c.123 others(35): Show c.1231-8438_1231-8423delCCTTCCTTCCTTCCTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179421367	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA19086.hp2 HG01515.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0147 a0001c0002t0001g0116 a0001c0002t0001g0147	2	356	0.0056	-16	c.123 others(35): Show c.1231-8137_1231-8122delTTTTTTTTTTTTTTTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179449988	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0286 a0001c0003t0001g0286	1	356	0.0028	-16	c.179 others(35): Show c.1798+4802_1798+4817delTTTTTTTTTTTTTTTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179455279	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAGT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18978.hp2 NA19002.hp1 others(3): Show HG02523.hp2 NA18978.hp2 NA19002.hp1 NA19056.hp2 NA19060.hp1 NA19074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0209 a0002c0001t0001g0244 a0002c0001t0001g0249 others(3): Show a0002c0001t0001g0209 a0002c0001t0001g0244 a0002c0001t0001g0249 a0002c0001t0001g0336 a0002c0001t0001g0337 a0002c0001t0001g0345	6	356	0.0169	-16	c.179 others(37): Show c.1798+10089_1798+10104delAGTAAAAAAAAAAAAA	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179459722	CTTTCCTT others(9): Show CTTTCCTTCCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0289 a0001c0003t0001g0289	1	356	0.0028	-16	c.179 others(35): Show c.1799-8704_1799-8689delTTTCCTTCCTTCCTTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179488634	CCTTTCTT others(9): Show CCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02738.hp1 HG00280.hp2 HG02738.hp1	a0003 a0021 a0003 a0021	a0003c0004 a0021c0032 a0003c0004 a0021c0032	a0003c0004t0001 a0021c0032t0001 a0003c0004t0001 a0021c0032t0001	a0003c0004t0001g0003 a0021c0032t0001g0007 a0003c0004t0001g0003 a0021c0032t0001g0007	2	356	0.0056	-16	c.209 others(35): Show c.2092-2854_2092-2839delTTTCTTTCTTTCTTTC	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN1_chr16_282440_357723	285972	CCCCGCGG others(9): Show CCCCGCGGTTCTCCCAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0353 a0001c0001t0001g0353	1	378	0.0027	-16	c.21 others(27): Show c.2134_*2149delTTGGGAGAACCGCGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1467		chr16	TogoVar
AXIN2_chr17_65523563_65566648	65538667	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0200 a0001c0006t0001g0200	1	402	0.0025	-16	c.106 others(33): Show c.1060-340_1060-325delTTTTTTTTTTTTTTTT	AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding	4/10			chr17	TogoVar
AXIN2_chr17_65523563_65566648	65564088	TCACACAC others(9): Show TCACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0292 a0001c0002t0005g0292	1	402	0.0025	-16	c.-27 others(27): Show c.-2771_-2756delTGTGTGTGTGTGTGTG	AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding		2441		chr17	TogoVar
AXL_chr19_41214223_41266766	41235369	AATAGATA others(9): Show AATAGATAGATAGATAG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01346.hp2 HG01515.hp2 others(15): Show HG00735.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp1 HG01981.hp2 HG02258.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02723.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03486.hp1 HG03579.hp1 HG03710.hp2 NA18522.hp2 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0013 a0007c0009 a0001c0001 a0001c0013 a0007c0009	a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 others(4): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0020 a0001c0013t0044 a0007c0009t0033	a0001c0001t0004g0162 a0001c0001t0006g0160 a0001c0001t0008g0004 others(12): Show a0001c0001t0004g0162 a0001c0001t0006g0160 a0001c0001t0008g0004 a0001c0001t0008g0007 a0001c0001t0008g0017 a0001c0001t0014g0064 a0001c0001t0014g0065 a0001c0001t0014g0100 a0001c0001t0020g0195 a0001c0001t0020g0196 a0001c0001t0020g0203 a0001c0001t0020g0272 a0001c0001t0020g0276 a0001c0013t0044g0063 a0007c0009t0033g0278	18	314	0.0573	-16	c.784 others(33): Show c.784-2547_784-2532delGATAGATAGATAGATA	AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
AZIN1_chr8_102821308_102869163	102822170	TCACACAC others(9): Show TCACACACACACACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00558.hp2 others(51): Show HG00408.hp1 HG00558.hp1 HG00558.hp2 HG01361.hp2 HG01496.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02132.hp2 HG02293.hp2 HG03669.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18959.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18991.hp2 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19066.hp1 NA19072.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0005 a0001c0003t0002 others(3): Show a0001c0001t0001 a0001c0002t0005 a0001c0003t0002 a0001c0003t0010 a0001c0003t0020 a0001c0003t0021	a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0002t0005g0252 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0002t0005g0252 a0001c0003t0002g0004 a0001c0003t0002g0005 a0001c0003t0002g0013 a0001c0003t0002g0014 a0001c0003t0002g0015 a0001c0003t0002g0032 a0001c0003t0002g0033 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0200 a0001c0003t0002g0201 a0001c0003t0002g0202 a0001c0003t0002g0203 a0001c0003t0002g0204 a0001c0003t0002g0205 a0001c0003t0002g0207 a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 a0001c0003t0002g0212 a0001c0003t0002g0213 a0001c0003t0002g0214 a0001c0003t0002g0215 a0001c0003t0002g0216 a0001c0003t0002g0217 a0001c0003t0002g0218 a0001c0003t0010g0289 a0001c0003t0010g0290 a0001c0003t0010g0291 a0001c0003t0010g0292 a0001c0003t0020g0206 a0001c0003t0021g0208	54	380	0.1421	-16	c.63 others(27): Show c.6381_*6396delTGTGTGTGTGTGTGTG	AZIN1	ENSG00000155096.15	transcript	ENST00000337198.10	protein_coding		4137		chr8	TogoVar
AZIN2_chr1_33076153_33128492	33092249	GCTGGGCT others(9): Show GCTGGGCTGTGGGGAGC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01891.hp2 HG01934.hp1 others(11): Show HG00323.hp2 HG01891.hp2 HG01934.hp1 HG02055.hp1 HG02109.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp2 NA19043.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0004 a0001c0001t0001 a0004c0004t0004	a0001c0001t0001g0201 a0001c0001t0001g0202 a0004c0004t0004g0012 others(7): Show a0001c0001t0001g0201 a0001c0001t0001g0202 a0004c0004t0004g0012 a0004c0004t0004g0023 a0004c0004t0004g0024 a0004c0004t0004g0106 a0004c0004t0004g0107 a0004c0004t0004g0108 a0004c0004t0004g0109 a0004c0004t0004g0110	14	322	0.0435	-16	c.452 others(29): Show c.452+59_452+74delCCTGGGCTGTGGGGAG	AZIN2	ENSG00000142920.18	transcript	ENST00000294517.11	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
AZU1_chr19_822837_837018	833304	AGAAGAAG others(9): Show AGAAGAAGAAGAAGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	391	0.0026	-16	c.14 others(27): Show c.1428_*1443delGAAGAAGAAGAAGAAG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		1287		chr19	TogoVar
B2M_chr15_44706517_44723145	44721362	GACACACA others(9): Show GACACACACACACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02559.hp1 others(3): Show HG02257.hp2 HG02451.hp2 HG02559.hp1 HG02922.hp1 HG03453.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0037 a0001c0001t0003g0009 a0001c0001t0003g0037	6	385	0.0156	-16	c.37 others(27): Show c.3771_*3786delACACACACACACACAC	B2M	ENSG00000166710.23	transcript	ENST00000648006.3	protein_coding		3218		chr15	TogoVar
B3GALT1_chr2_167288001_167879045	167352268	GTTTTTTT others(9): Show GTTTTTTTTTTTGTTTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp1 HG03225.hp1 others(1): Show HG02258.hp1 HG02922.hp1 HG03225.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0018 others(1): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0018 a0001c0001t0024	a0001c0001t0002g0094 a0001c0001t0010g0092 a0001c0001t0018g0093 others(1): Show a0001c0001t0002g0094 a0001c0001t0010g0092 a0001c0001t0018g0093 a0001c0001t0024g0091	4	118	0.0339	-16	c.-51 others(37): Show c.-511+58944_-511+58959delTTGTTTTTTTTTTTTT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167365585	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	118	0.0085	-16	c.-51 others(37): Show c.-511+72276_-511+72291delACACACACACACACAC	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167369061	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0044 a0001c0001t0037g0044	1	118	0.0085	-16	c.-51 others(37): Show c.-511+75759_-511+75774delGTGTGTGTGTGTGTGT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167389922	AAACAAAA others(9): Show AAACAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp1 HG03225.hp1 others(1): Show HG02258.hp1 HG02922.hp1 HG03225.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0018 others(1): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0018 a0001c0001t0024	a0001c0001t0002g0094 a0001c0001t0010g0092 a0001c0001t0018g0093 others(1): Show a0001c0001t0002g0094 a0001c0001t0010g0092 a0001c0001t0018g0093 a0001c0001t0024g0091	4	118	0.0339	-16	c.-51 others(37): Show c.-511+96591_-511+96606delCAAAAAAAAAAAAGAA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167408015	GACACACA others(9): Show GACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01258.hp2 HG01891.hp1 others(12): Show HG00738.hp1 HG01258.hp2 HG01891.hp1 HG02109.hp2 HG02683.hp1 HG03139.hp1 HG03704.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18968.hp1 NA19030.hp2 NA19056.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0016 a0001c0001t0041 a0001c0001t0050	a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0108 others(12): Show a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0002g0113 a0001c0001t0003g0002 a0001c0001t0003g0038 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0005g0101 a0001c0001t0006g0106 a0001c0001t0007g0100 a0001c0001t0009g0034 a0001c0001t0016g0077 a0001c0001t0041g0109 a0001c0001t0050g0118	15	118	0.1271	-16	c.-51 others(37): Show c.-510-82120_-510-82105delCACACACACACACACA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar

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