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
C9orf43_chr9_113405747_113434690	113428467	CTCATGAA others(7): Show CTCATGAAAGCAGTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp1 HG03516.hp2 others(3): Show HG01243.hp1 HG02572.hp1 HG03516.hp2 HG06807.hp2 NA18906.hp2 NA20129.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0010 a0001c0001 a0011c0010	a0001c0001t0001 a0011c0010t0001 a0001c0001t0001 a0011c0010t0001	a0001c0001t0001g0010 a0001c0001t0001g0018 a0011c0010t0001g0010 a0001c0001t0001g0010 a0001c0001t0001g0018 a0011c0010t0001g0010	6	310	0.0194	-14	c.110 others(31): Show c.1107+261_1107+274delATGAAAGCAGTTTC	C9orf43	ENSG00000157653.12	transcript	ENST00000374165.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
C9orf78_chr9_129822290_129840275	129833033	GTGTGTAT others(7): Show GTGTGTATATACATA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	386	0.0026	-14	c.266 others(29): Show c.266+400_266+413delTATGTATATACACA	C9orf78	ENSG00000136819.15	transcript	ENST00000372447.7	protein_coding	4/8			chr9	TogoVar
C9orf85_chr9_71906639_71978457	71956844	TCTAAAGA others(7): Show TCTAAAGAGAAATAG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02970.hp2 HG03139.hp1 HG02258.hp2 HG02970.hp2 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0025 a0001c0002t0008g0026 a0001c0002t0008g0027 a0001c0002t0008g0025 a0001c0002t0008g0026 a0001c0002t0008g0027	3	250	0.0120	-14	c.209 others(31): Show c.209+9745_209+9758delAGCTAAAGAGAAAT	C9orf85	ENSG00000155621.15	transcript	ENST00000334731.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
CA10_chr17_51625320_52163714	51754285	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG01074.hp2 others(29): Show HG00408.hp2 HG00423.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01361.hp2 HG01516.hp2 HG02055.hp1 HG02056.hp2 HG02273.hp1 HG02451.hp1 HG02615.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04184.hp1 NA18950.hp1 NA18951.hp1 NA18963.hp2 NA18964.hp2 NA18968.hp1 NA18974.hp1 NA18982.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19062.hp1 NA19078.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0002t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0042 others(29): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0042 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0132 a0001c0001t0001g0149 a0001c0001t0002g0012 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0062 a0001c0001t0002g0087 a0001c0001t0002g0128 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0004g0099 a0001c0001t0011g0155 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0066 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0126 a0001c0002t0001g0133 a0001c0002t0001g0144	32	156	0.2051	-14	c.280 others(31): Show c.280-6481_280-6468delACACACACACACAC	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51754400	GATATATA others(7): Show GATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0112 a0001c0001t0010g0112	1	156	0.0064	-14	c.280 others(31): Show c.280-6596_280-6583delATATATATATATAT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51786649	TGATTGCT others(7): Show TGATTGCTCTTGCTA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02572.hp2 others(3): Show HG01884.hp2 HG02055.hp2 HG02572.hp2 HG02965.hp1 HG03516.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0111 others(3): Show a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0111 a0001c0001t0002g0091 a0001c0001t0003g0098 a0001c0001t0004g0146	6	156	0.0385	-14	c.280 others(33): Show c.280-38845_280-38832delTAGCAAGAGCAATC	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51840478	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0044 a0001c0003t0001g0044	1	156	0.0064	-14	c.279 others(33): Show c.279+90498_279+90511delGTGTGTGTGTGTGT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51849219	ACATATAT others(7): Show ACATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01167.hp1 HG01256.hp1 others(8): Show HG01106.hp2 HG01167.hp1 HG01256.hp1 HG01361.hp1 HG02647.hp1 HG02818.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp2 NA19011.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0046 a0001c0001t0001g0059 a0001c0001t0002g0013 others(8): Show a0001c0001t0001g0046 a0001c0001t0001g0059 a0001c0001t0002g0013 a0001c0001t0002g0039 a0001c0001t0002g0054 a0001c0001t0002g0075 a0001c0001t0002g0140 a0001c0002t0001g0016 a0001c0002t0001g0053 a0001c0002t0001g0066 a0001c0002t0001g0139	11	156	0.0705	-14	c.279 others(33): Show c.279+81757_279+81770delCACACACATATATG	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51871050	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	156	0.0064	-14	c.279 others(33): Show c.279+59926_279+59939delAAAAAAAAAAAAAA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51874955	TTTTTCTT others(7): Show TTTTTCTTTTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02257.hp1 HG03453.hp1 others(3): Show HG00423.hp1 HG02257.hp1 HG03453.hp1 NA18951.hp2 NA18962.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0002t0001	a0001c0001t0001g0123 a0001c0001t0002g0035 a0001c0001t0002g0036 others(3): Show a0001c0001t0001g0123 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0071 a0001c0001t0010g0112 a0001c0002t0001g0151	6	156	0.0385	-14	c.279 others(33): Show c.279+56021_279+56034delGAAAAAAAAGAAAA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51878829	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG02622.hp1 others(5): Show HG01891.hp2 HG02258.hp2 HG02622.hp1 HG02647.hp2 HG02922.hp1 HG03130.hp2 NA18906.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0002g0065 others(5): Show a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0002g0065 a0001c0001t0002g0135 a0001c0001t0003g0081 a0001c0001t0003g0098 a0001c0001t0003g0106 a0001c0001t0008g0096	8	156	0.0513	-14	c.279 others(33): Show c.279+52147_279+52160delATATATATATATAT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	52093922	GGAAAGCT others(7): Show GGAAAGCTGGGGCCT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(98): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp2 NA18906.hp1 NA18950.hp2 NA18951.hp2 NA18962.hp1 NA18963.hp1 NA18968.hp1 NA18974.hp2 NA18982.hp2 NA19000.hp1 NA19010.hp2 NA19011.hp2 NA19058.hp2 NA19062.hp2 NA19078.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 others(98): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0065 a0001c0001t0002g0072 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0091 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0118 a0001c0001t0002g0127 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0141 a0001c0001t0003g0024 a0001c0001t0003g0064 a0001c0001t0003g0076 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0098 a0001c0001t0003g0106 a0001c0001t0003g0114 a0001c0001t0003g0119 a0001c0001t0003g0138 a0001c0001t0004g0043 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0102 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0005g0001 a0001c0001t0005g0003 a0001c0001t0006g0002 a0001c0001t0007g0004 a0001c0001t0008g0096 a0001c0001t0010g0112 a0001c0001t0011g0155 a0001c0001t0012g0156 a0001c0002t0001g0007 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0029 a0001c0002t0001g0050 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0116 a0001c0002t0001g0122 a0001c0002t0001g0129 a0001c0002t0001g0133 a0001c0002t0001g0139 a0001c0002t0001g0144 a0001c0002t0001g0151 a0001c0003t0001g0044	101	156	0.6474	-14	c.62- others(31): Show c.62-21543_62-21530delAGGCCCCAGCTTTC	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	1/8			chr17	TogoVar
CA10_chr17_51625320_52163714	52108192	TTTTATAT others(7): Show TTTTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01081.hp2 HG01099.hp1 others(44): Show HG00544.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp2 NA18950.hp1 NA18951.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18968.hp2 NA18982.hp1 NA19010.hp1 NA19062.hp1 NA19240.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0042 a0001c0001t0001g0069 a0001c0001t0001g0080 others(44): Show a0001c0001t0001g0042 a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0115 a0001c0001t0001g0132 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0002g0033 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0118 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0003g0063 a0001c0001t0003g0068 a0001c0001t0003g0076 a0001c0001t0003g0079 a0001c0001t0004g0043 a0001c0001t0005g0001 a0001c0001t0005g0003 a0001c0001t0006g0002 a0001c0001t0008g0096 a0001c0001t0009g0130 a0001c0002t0001g0030 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0070 a0001c0002t0001g0095 a0001c0002t0001g0104 a0001c0002t0001g0117 a0001c0002t0001g0126 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0003t0001g0044	47	156	0.3013	-14	c.62- others(31): Show c.62-35813_62-35800delTATATATATATAAA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	1/8			chr17	TogoVar
CA10_chr17_51625320_52163714	52160796	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 NA18950.hp1 NA20300.hp1 HG00741.hp2 NA18950.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0011 a0001c0002t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0001	a0001c0001t0002g0148 a0001c0001t0011g0155 a0001c0002t0001g0010 a0001c0001t0002g0148 a0001c0001t0011g0155 a0001c0002t0001g0010	3	156	0.0192	-14	c.-30 others(25): Show c.-3024_-3011delGAAAGAAAGAAAGA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding		2083		chr17	TogoVar
CA1_chr8_85322608_85383113	85344145	ATATATTA others(7): Show ATATATTATATACTG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG01099.hp1 others(6): Show HG00544.hp2 HG00597.hp2 HG01099.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp2 HG03098.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0047 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0093 a0001c0001t0001g0114	9	324	0.0278	-14	c.-24 others(31): Show c.-24-2500_-24-2487delCAGTATATAATATA	CA1	ENSG00000133742.14	transcript	ENST00000523022.6	protein_coding	1/7			chr8	TogoVar
CA3_chr8_85433859_85454040	85450752	CATATATT others(7): Show CATATATTTACATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(177): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp2 NA18978.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp1 NA19006.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19082.hp1 NA19086.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0002c0002t0001 a0002c0002t0011 a0005c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 others(24): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0005g0003 a0001c0001t0005g0036 a0001c0001t0012g0040 a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0032 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0011g0001 a0005c0006t0001g0044	180	364	0.4945	-14	c.26 others(25): Show c.2600_*2613delATATATTTACATAT	CA3	ENSG00000164879.7	transcript	ENST00000285381.3	protein_coding		1713		chr8	TogoVar
CA4_chr17_60144973_60164546	60150654	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01884.hp1 HG01891.hp2 others(15): Show HG00639.hp1 HG01884.hp1 HG01891.hp2 HG02080.hp2 HG02109.hp2 HG02622.hp2 HG02723.hp1 HG02809.hp2 HG03540.hp2 NA18950.hp2 NA18967.hp1 NA18974.hp1 NA18975.hp2 NA18983.hp1 NA18998.hp2 NA19012.hp1 NA19089.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0002 a0001c0005t0002 a0001c0007t0002 a0001c0001t0002 a0001c0005t0002 a0001c0007t0002	a0001c0001t0002g0009 a0001c0001t0002g0027 a0001c0001t0002g0118 others(6): Show a0001c0001t0002g0009 a0001c0001t0002g0027 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0005t0002g0041 a0001c0007t0002g0121	18	380	0.0474	-14	c.58+ others(27): Show c.58+585_58+598delAAAAAAAAAAAAAA	CA4	ENSG00000167434.10	transcript	ENST00000300900.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
CA5A_chr16_87883013_87941529	87899919	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01952.hp1 HG01993.hp1 others(1): Show HG01192.hp2 HG01952.hp1 HG01993.hp1 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0001 a0001c0002t0002 a0001c0004t0001	a0001c0002t0002g0259 a0001c0002t0002g0392 a0001c0004t0001g0367 others(1): Show a0001c0002t0002g0259 a0001c0002t0002g0392 a0001c0004t0001g0367 a0001c0004t0001g0369	4	400	0.0100	-14	c.618 others(31): Show c.618+1979_618+1992delTTTTTTTTTTTTTT	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding	5/6			chr16	TogoVar
CA6_chr1_8940868_8980092	8973712	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01346.hp1 HG01934.hp2 others(3): Show HG00408.hp2 HG01346.hp1 HG01934.hp2 HG02895.hp1 HG03579.hp2 NA19009.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0002 a0002c0001 a0002c0014 others(2): Show a0001c0002 a0002c0001 a0002c0014 a0006c0004 a0009c0010	a0001c0002t0001 a0002c0001t0002 a0002c0014t0001 others(2): Show a0001c0002t0001 a0002c0001t0002 a0002c0014t0001 a0006c0004t0001 a0009c0010t0001	a0001c0002t0001g0256 a0002c0001t0002g0341 a0002c0001t0002g0344 others(3): Show a0001c0002t0001g0256 a0002c0001t0002g0341 a0002c0001t0002g0344 a0002c0014t0001g0263 a0006c0004t0001g0143 a0009c0010t0001g0427	6	452	0.0133	-14	c.845 others(29): Show c.845-908_845-895delTTCTTTCTTTCTTT	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8978636	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0273 a0001c0002t0001g0273	1	452	0.0022	-14	c.39 others(25): Show c.3933_*3946delAAAAAAAAAAAAAA	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		3545		chr1	TogoVar
CA6_chr1_8940868_8980092	8978661	AAAAAAAA others(7): Show AAAAAAAAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00733.hp1 NA18981.hp2 HG00280.hp1 HG00733.hp1 NA18981.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0005 a0001c0002 a0005c0005	a0001c0002t0001 a0005c0005t0001 a0001c0002t0001 a0005c0005t0001	a0001c0002t0001g0232 a0005c0005t0001g0100 a0005c0005t0001g0315 a0001c0002t0001g0232 a0005c0005t0001g0100 a0005c0005t0001g0315	3	452	0.0066	-14	c.39 others(25): Show c.3958_*3971delAAAAAAAAAAAAAC	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		3570		chr1	TogoVar
CA8_chr8_60180412_60286400	60190432	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03710.hp1 NA18951.hp2 others(5): Show HG01433.hp2 HG03710.hp1 NA18951.hp2 NA18960.hp1 NA18974.hp1 NA18982.hp1 NA19030.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0002t0013 a0001c0003t0012	a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0010g0013 others(5): Show a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0010g0013 a0001c0001t0010g0069 a0001c0001t0015g0210 a0001c0001t0018g0050 a0001c0002t0013g0173 a0001c0003t0012g0023	8	344	0.0233	-14	c.36 others(29): Show c.36-461_*36-448delATATATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60200900	AATCTTGT others(7): Show AATCTTGTATTTATT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01071.hp2 others(6): Show HG01070.hp1 HG01070.hp2 HG01071.hp2 HG02572.hp2 HG02723.hp1 HG02895.hp1 HG02965.hp1 HG03540.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0016 a0001c0002t0019 a0001c0002t0043 others(2): Show a0001c0001t0016 a0001c0002t0019 a0001c0002t0043 a0001c0003t0029 a0002c0004t0019	a0001c0001t0016g0289 a0001c0001t0016g0290 a0001c0001t0016g0291 others(6): Show a0001c0001t0016g0289 a0001c0001t0016g0290 a0001c0001t0016g0291 a0001c0001t0016g0292 a0001c0002t0019g0086 a0001c0002t0043g0119 a0001c0003t0029g0088 a0002c0004t0019g0082 a0002c0004t0019g0083	9	344	0.0262	-14	c.35 others(31): Show c.35+7836_*35+7849delAATAAATACAAGAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CAAP1_chr9_26835685_26897802	26847198	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	372	0.0027	-14	c.740 others(31): Show c.740-4565_740-4552delAAAAAAAAAAAAAA	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	5/5			chr9	TogoVar
CAB39L_chr13_49303650_49449064	49329540	AAAAAATA others(7): Show AAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	324	0.0031	-14	c.834 others(31): Show c.834+2393_834+2406delATATATATATTTTT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49329542	AAAATATA others(7): Show AAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02809.hp2 NA18960.hp2 others(2): Show HG02135.hp1 HG02809.hp2 NA18960.hp2 NA19082.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0315 a0001c0002t0001g0129 a0001c0002t0001g0151 others(2): Show a0001c0001t0001g0315 a0001c0002t0001g0129 a0001c0002t0001g0151 a0001c0002t0001g0187 a0001c0002t0001g0269	5	324	0.0154	-14	c.834 others(31): Show c.834+2391_834+2404delATATATATATATTT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49329544	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(12): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG01175.hp2 HG01928.hp2 HG03831.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp2 NA18747.hp2 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18989.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0112 a0001c0001t0001g0165 a0001c0001t0003g0006 others(12): Show a0001c0001t0001g0112 a0001c0001t0001g0165 a0001c0001t0003g0006 a0001c0001t0003g0041 a0001c0002t0001g0068 a0001c0002t0001g0082 a0001c0002t0001g0128 a0001c0002t0001g0140 a0001c0002t0001g0145 a0001c0002t0001g0291 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0305 a0001c0002t0001g0308	15	324	0.0463	-14	c.834 others(31): Show c.834+2389_834+2402delATATATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49392360	AACAGGCG others(7): Show AACAGGCGGTGGTTC	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02630.hp1 HG02886.hp1 others(24): Show HG02071.hp2 HG02630.hp1 HG02886.hp1 HG02970.hp1 HG03098.hp1 HG03195.hp1 HG03225.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03834.hp1 HG04115.hp2 HG04204.hp1 NA18906.hp2 NA18940.hp2 NA18948.hp2 NA18969.hp2 NA18973.hp2 NA18983.hp1 NA18995.hp1 NA18999.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0016 a0001c0001t0020 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0094 a0001c0001t0001g0095 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0144 a0001c0001t0001g0190 a0001c0001t0001g0239 a0001c0001t0002g0319 a0001c0001t0003g0019 a0001c0001t0004g0299 a0001c0001t0005g0003 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0117 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0233 a0001c0001t0006g0260 a0001c0001t0010g0056 a0001c0001t0016g0314 a0001c0001t0020g0011 a0001c0002t0001g0060 a0001c0002t0001g0310 a0001c0002t0001g0313	27	324	0.0833	-14	c.-31 others(31): Show c.-31-9433_-31-9420delGAACCACCGCCTGT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	3/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49440715	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02647.hp2 HG02818.hp1 others(6): Show HG01109.hp1 HG02647.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp2 HG03453.hp1 HG03471.hp1 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 others(6): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0136 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0004g0008	9	324	0.0278	-14	c.-24 others(33): Show c.-246+3257_-246+3270delACACACACACACAC	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230748825	AAAAAAAA others(7): Show AAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18994.hp1 NA19065.hp1 NA18992.hp1 NA18994.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0165 a0001c0001t0016g0184 a0001c0001t0016g0185 a0001c0001t0016g0165 a0001c0001t0016g0184 a0001c0001t0016g0185	3	342	0.0088	-14	c.-43 others(33): Show c.-43-11132_-43-11119delAAAAAATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748827	AAAAAATA others(7): Show AAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG03453.hp1 others(3): Show HG02055.hp2 HG02559.hp2 HG03453.hp1 HG03453.hp2 NA19090.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0003 a0001c0001t0031 a0001c0001t0033 others(2): Show a0001c0001t0003 a0001c0001t0031 a0001c0001t0033 a0001c0005t0012 a0002c0004t0033	a0001c0001t0003g0219 a0001c0001t0003g0230 a0001c0001t0031g0198 others(3): Show a0001c0001t0003g0219 a0001c0001t0003g0230 a0001c0001t0031g0198 a0001c0001t0033g0172 a0001c0005t0012g0179 a0002c0004t0033g0171	6	342	0.0175	-14	c.-43 others(33): Show c.-43-11130_-43-11117delAAAATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748829	AAAATATA others(7): Show AAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02145.hp2 HG02683.hp2 others(7): Show HG02080.hp2 HG02145.hp2 HG02683.hp2 NA18951.hp1 NA18952.hp1 NA18962.hp1 NA18963.hp1 NA18972.hp1 NA18983.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0069 a0001c0001t0003 a0001c0001t0006 a0001c0001t0069	a0001c0001t0003g0182 a0001c0001t0003g0189 a0001c0001t0003g0222 others(7): Show a0001c0001t0003g0182 a0001c0001t0003g0189 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0236 a0001c0001t0006g0225 a0001c0001t0069g0167	10	342	0.0292	-14	c.-43 others(33): Show c.-43-11128_-43-11115delAATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18993.hp1 NA19007.hp1 HG02965.hp1 NA18993.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0030 a0001c0001t0003 a0001c0001t0015 a0001c0001t0030	a0001c0001t0003g0221 a0001c0001t0015g0263 a0001c0001t0030g0233 a0001c0001t0003g0221 a0001c0001t0015g0263 a0001c0001t0030g0233	3	342	0.0088	-14	c.-43 others(33): Show c.-43-11104_-43-11091delTATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61658373	TGTATACT others(7): Show TGTATACTCCTCGTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	374	0.0027	-14	c.-45 others(25): Show c.-4599_-4586delGTATACTCCTCGTA	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding		4555		chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61710253	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(72): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02040.hp2 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02615.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02895.hp2 HG03017.hp1 HG03225.hp1 HG03239.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG04204.hp2 HG04228.hp2 NA18941.hp2 NA18944.hp2 NA18949.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18983.hp2 NA18986.hp1 NA18991.hp1 NA19000.hp2 NA19043.hp1 NA19064.hp2 NA19065.hp2 NA19077.hp2 NA19089.hp2 NA19240.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0026 others(72): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0138 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0365 a0001c0002t0001g0081	75	374	0.2005	-14	c.552 others(33): Show c.552+19661_552+19674delGTGTGTGTGTGTGT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABIN1_chr22_24006304_24183628	24011159	ACACGCGC others(7): Show ACACGCGCGCACGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0254 a0001c0008t0001g0254	1	268	0.0037	-14	c.-28 others(23): Show c.-282_-269delCACGCGCGCACGCG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		144		chr22	TogoVar
CABLES1_chr18_23130485_23265470	23147979	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18984.hp2 NA18971.hp1 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0144 a0002c0002t0001g0145	2	278	0.0072	-14	c.845 others(33): Show c.845+11387_845+11400delTTTTTTTTTTTTTT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23174821	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02922.hp2 others(1): Show HG01891.hp1 HG01891.hp2 HG02922.hp2 HG03209.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0010 a0001c0001t0024 a0001c0001t0032 others(1): Show a0001c0001t0010 a0001c0001t0024 a0001c0001t0032 a0008c0012t0026	a0001c0001t0010g0167 a0001c0001t0024g0003 a0001c0001t0032g0170 others(1): Show a0001c0001t0010g0167 a0001c0001t0024g0003 a0001c0001t0032g0170 a0008c0012t0026g0002	4	278	0.0144	-14	c.846 others(33): Show c.846-13990_846-13977delATATATATATATAT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23191906	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG03453.hp1 others(2): Show HG01884.hp1 HG02055.hp2 HG03453.hp1 HG03516.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0002c0002t0019 a0001c0001t0001 a0001c0001t0007 a0002c0002t0019	a0001c0001t0001g0101 a0001c0001t0007g0135 a0001c0001t0007g0136 others(2): Show a0001c0001t0001g0101 a0001c0001t0007g0135 a0001c0001t0007g0136 a0001c0001t0007g0164 a0002c0002t0019g0119	5	278	0.0180	-14	c.918 others(31): Show c.918-2520_918-2507delAAAAAAAAAAAAAA	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23244837	AGGTCAGA others(7): Show AGGTCAGAGAACAGT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0010 a0001c0001t0056g0010	1	278	0.0036	-14	c.144 others(33): Show c.1446+7595_1446+7608delTCAGAGAACAGTGG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES2_chr20_62383634_62412285	62385339	CACTCCAG others(7): Show CACTCCAGCCTGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	400	0.0025	-14	c.56 others(25): Show c.5618_*5631delACCCAGGCTGGAGT	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding		3294		chr20	TogoVar
CABP4_chr11_67450354_67466752	67460516	TACACACA others(7): Show TACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG01884.hp2 others(44): Show HG01243.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0023 a0001c0001t0030 others(3): Show a0001c0001t0002 a0001c0001t0023 a0001c0001t0030 a0001c0002t0002 a0001c0002t0023 a0001c0002t0029	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0023g0005 others(5): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0023g0005 a0001c0001t0030g0005 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0023g0006 a0001c0002t0029g0006	47	368	0.1277	-14	c.18 others(25): Show c.1871_*1884delCACACACACACACA	CABP4	ENSG00000175544.14	transcript	ENST00000325656.7	protein_coding	6/6	1871	INFO_REALIGN_3_PRIME	chr11	TogoVar
CABP4_chr11_67450354_67466752	67465262	CAGGCCCT others(7): Show CAGGCCCTGGGAAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	-14	c.66 others(25): Show c.6604_*6617delAGGCCCTGGGAAGT	CABP4	ENSG00000175544.14	transcript	ENST00000325656.7	protein_coding		3511		chr11	TogoVar
CABP5_chr19_48024383_48049079	48037259	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0061 a0002c0003t0006g0061	1	376	0.0027	-14	c.348 others(31): Show c.348+1935_348+1948delAAAAAAAAAAAAAA	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	4/5			chr19	TogoVar
CACFD1_chr9_133454978_133475848	133470189	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0001 a0001c0001t0051g0001	1	420	0.0024	-14	c.15 others(25): Show c.1560_*1573delGTGTGTGTGTGTGT	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	5/5	1560	INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1A_chr19_13201442_13511479	13259329	TTTTTTTT others(7): Show TTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0104 a0002c0104	a0002c0104t0040 a0002c0104t0040	a0002c0104t0040g0156 a0002c0104t0040g0156	1	218	0.0046	-14	c.438 others(31): Show c.4388+221_4388+234delCAAAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	27/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310477	AAAAAAAA others(7): Show AAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01981.hp2 HG01256.hp1 HG01981.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0004 a0008c0012t0003 a0001c0001t0004 a0008c0012t0003	a0001c0001t0004g0017 a0008c0012t0003g0091 a0001c0001t0004g0017 a0008c0012t0003g0091	2	218	0.0092	-14	c.166 others(33): Show c.1669-1963_1669-1950delATTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310481	AAAAAAAA others(7): Show AAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	218	0.0046	-14	c.166 others(33): Show c.1669-1967_1669-1954delATATATTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310483	AAAAAAAA others(7): Show AAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0140 a0001c0004t0015g0140	1	218	0.0046	-14	c.166 others(33): Show c.1669-1969_1669-1956delATATATATTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310485	AAAAAATA others(7): Show AAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0006 a0006	a0006c0029 a0006c0029	a0006c0029t0003 a0006c0029t0003	a0006c0029t0003g0169 a0006c0029t0003g0169	1	218	0.0046	-14	c.166 others(33): Show c.1669-1971_1669-1958delATATATATATTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar

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