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
BTBD16_chr10_122266296_122343159	122273221	G G	GATAGATA others(9): Show GATAGATAGATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0006 a0006c0015t0006	a0006c0015t0006g0072 a0006c0015t0006g0072	1	382	0.0026	16	c.-43 others(33): Show c.-43+1710_-43+1711insGATAGATATATATATA	BTBD16	ENSG00000138152.10	transcript	ENST00000260723.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTBD16_chr10_122266296_122343159	122273221	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02280.hp1 HG02293.hp2 others(14): Show HG02165.hp2 HG02280.hp1 HG02293.hp2 HG02630.hp1 HG06807.hp2 NA18522.hp2 NA18939.hp2 NA18954.hp2 NA18955.hp1 NA18963.hp2 NA18970.hp1 NA18982.hp2 NA18990.hp1 NA19002.hp1 NA19005.hp2 NA19080.hp1 NA20752.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0007 a0002c0019 others(3): Show a0001c0001 a0001c0007 a0002c0019 a0004c0005 a0005c0004 a0007c0006	a0001c0001t0001 a0001c0007t0001 a0002c0019t0001 others(3): Show a0001c0001t0001 a0001c0007t0001 a0002c0019t0001 a0004c0005t0001 a0005c0004t0001 a0007c0006t0001	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0123 others(13): Show a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0007t0001g0116 a0001c0007t0001g0119 a0002c0019t0001g0113 a0002c0019t0001g0114 a0004c0005t0001g0122 a0005c0004t0001g0013 a0007c0006t0001g0111 a0007c0006t0001g0112 a0007c0006t0001g0115 a0007c0006t0001g0120 a0007c0006t0001g0121 a0007c0006t0001g0125	17	382	0.0445	16	c.-43 others(33): Show c.-43+1717_-43+1732dupTATATATATATATATA	BTBD16	ENSG00000138152.10	transcript	ENST00000260723.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTBD16_chr10_122266296_122343159	122279511	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG01167.hp2 others(21): Show HG00099.hp1 HG00558.hp1 HG01167.hp2 HG01358.hp1 HG01515.hp1 HG02809.hp2 HG03942.hp1 NA18612.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18967.hp2 NA18974.hp1 NA18980.hp1 NA18980.hp2 NA18985.hp2 NA19001.hp2 NA19056.hp1 NA19074.hp1 NA19079.hp1 NA19085.hp1 NA20129.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0007 a0002c0002 others(4): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003 a0004c0005 a0005c0004 a0007c0006	a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 a0003c0003t0001 a0004c0005t0001 a0005c0004t0001 a0007c0006t0001	a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0001g0179 others(21): Show a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0258 a0001c0007t0001g0187 a0002c0002t0001g0242 a0002c0002t0001g0245 a0002c0002t0001g0257 a0003c0003t0001g0032 a0004c0005t0001g0229 a0005c0004t0001g0178 a0005c0004t0001g0182 a0005c0004t0001g0191 a0007c0006t0001g0188	24	382	0.0628	16	c.167 others(33): Show c.167+2592_167+2607dupCACACACACACACACA	BTBD16	ENSG00000138152.10	transcript	ENST00000260723.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTBD17_chr17_74351416_74366868	74351929	G G	GCCGCGGC others(9): Show GCCGCGGCGCATCGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	444	0.0023	16	c.47 others(27): Show c.4712_*4727dupAGCCGATGCGCCGCGG	BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding		4486		chr17	TogoVar
BTBD17_chr17_74351416_74366868	74364473	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00642.hp1 HG01978.hp2 others(35): Show HG00597.hp2 HG00642.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02572.hp1 HG02717.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03516.hp1 HG03540.hp1 HG06807.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18980.hp2 NA18981.hp1 NA18986.hp1 NA18994.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19054.hp1 NA19065.hp2 NA19077.hp2 NA19087.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0011 others(2): Show a0001c0001 a0001c0004 a0001c0011 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 a0001c0011t0001 a0002c0002t0001 a0003c0005t0003	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0003g0009 a0001c0001t0003g0029 a0001c0004t0003g0018 a0001c0011t0001g0053 a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0016 a0002c0002t0001g0039 a0002c0002t0001g0058 a0003c0005t0003g0059	38	444	0.0856	16	c.-26 others(27): Show c.-2655_-2654insACACACACACACACAC	BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding		2606		chr17	TogoVar
BTBD17_chr17_74351416_74366868	74365044	C C	CATATATA others(9): Show CATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01123.hp2 others(58): Show HG01070.hp1 HG01071.hp1 HG01123.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01515.hp1 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG02015.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02622.hp1 HG02723.hp1 HG02809.hp2 HG02896.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03704.hp2 HG03834.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18956.hp2 NA18959.hp1 NA18963.hp1 NA18966.hp1 NA18968.hp2 NA18974.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18987.hp2 NA18989.hp2 NA18994.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19064.hp2 NA19082.hp2 NA19088.hp1 NA19091.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0012 a0002c0002 others(1): Show a0001c0001 a0001c0012 a0002c0002 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0012t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0012t0001 a0002c0002t0001 a0005c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0087 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0012t0001g0054 a0002c0002t0001g0004 a0005c0007t0001g0048	61	444	0.1374	16	c.-32 others(27): Show c.-3226_-3225insATATATATATATATAT	BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding		3177		chr17	TogoVar
BTBD17_chr17_74351416_74366868	74365064	T T	TATATATA others(9): Show TATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	444	0.0023	16	c.-32 others(27): Show c.-3246_-3245insGTGTATATATATATAT	BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding		3197		chr17	TogoVar
BTBD17_chr17_74351416_74366868	74365064	T T	TATATATA others(9): Show TATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02145.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	2	444	0.0045	16	c.-32 others(27): Show c.-3246_-3245insGTATATATATATATAT	BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding		3197		chr17	TogoVar
BTBD19_chr1_44803523_44820585	44814148	C C	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp1 HG01243.hp2 NA19055.hp1 others(1): Show HG01106.hp1 HG01243.hp2 NA19055.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0002 a0001c0001t0021g0022 a0001c0001t0021g0097 a0001c0001t0021g0002 a0001c0001t0021g0022 a0001c0001t0021g0097	4	436	0.0092	16	c.42 others(25): Show c.426_*441dupCTTTCTTTCTTTCTTT	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding	8/8	442	INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD19_chr1_44803523_44820585	44814212	T T	TTCTTTCT others(9): Show TTCTTTCTTTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp2 HG02809.hp2 HG02886.hp1 others(1): Show HG02622.hp2 HG02809.hp2 HG02886.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0075 a0001c0001t0027 a0001c0001t0075	a0001c0001t0027g0007 a0001c0001t0027g0017 a0001c0001t0027g0089 others(1): Show a0001c0001t0027g0007 a0001c0001t0027g0017 a0001c0001t0027g0089 a0001c0001t0075g0007	4	436	0.0092	16	c.44 others(25): Show c.441_*442insCTTTCTTTTTCTTTCT	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding	8/8	442	INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD19_chr1_44803523_44820585	44814212	T T	TTCTTTTT others(9): Show TTCTTTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0132 a0001c0001t0132	a0001c0001t0132g0006 a0001c0001t0132g0006	1	436	0.0023	16	c.44 others(25): Show c.441_*442insCTTTTTCTTTCTTTCT	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding	8/8	442	INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD19_chr1_44803523_44820585	44814224	C C	CTTTCTTT others(9): Show CTTTCTTTCTTTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG01069.hp1 HG01123.hp2 others(27): Show HG00099.hp2 HG01069.hp1 HG01123.hp2 HG01243.hp1 HG01346.hp1 HG01943.hp2 HG01993.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02148.hp2 HG02273.hp2 HG02615.hp2 HG02630.hp2 HG03041.hp2 HG03540.hp2 HG03710.hp1 HG06807.hp1 NA18612.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18960.hp1 NA18966.hp2 NA18977.hp1 NA18978.hp1 NA18992.hp1 NA19064.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 others(5): Show a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0023 a0001c0001t0038 a0001c0001t0039 a0001c0001t0070 a0001c0001t0134	a0001c0001t0012g0006 a0001c0001t0013g0005 a0001c0001t0013g0008 others(12): Show a0001c0001t0012g0006 a0001c0001t0013g0005 a0001c0001t0013g0008 a0001c0001t0013g0031 a0001c0001t0013g0041 a0001c0001t0013g0042 a0001c0001t0016g0005 a0001c0001t0016g0031 a0001c0001t0016g0047 a0001c0001t0016g0079 a0001c0001t0023g0006 a0001c0001t0038g0008 a0001c0001t0039g0008 a0001c0001t0070g0008 a0001c0001t0134g0006	30	436	0.0688	16	c.45 others(25): Show c.453_*454insTTCTTTCTTTTTCTTT	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding	8/8	454	INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD19_chr1_44803523_44820585	44816350	A A	ATATATAT others(9): Show ATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02486.hp2 HG02895.hp1 others(4): Show HG01167.hp1 HG02486.hp2 HG02895.hp1 HG02897.hp1 HG03486.hp1 HG03516.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0027 a0001c0001t0029 others(4): Show a0001c0001t0020 a0001c0001t0027 a0001c0001t0029 a0001c0001t0041 a0001c0001t0042 a0001c0001t0072 a0001c0001t0077	a0001c0001t0020g0093 a0001c0001t0027g0089 a0001c0001t0029g0007 others(4): Show a0001c0001t0020g0093 a0001c0001t0027g0089 a0001c0001t0029g0007 a0001c0001t0041g0007 a0001c0001t0042g0007 a0001c0001t0072g0007 a0001c0001t0077g0007	7	436	0.0161	16	c.25 others(27): Show c.2578_*2579insTATATATATATATATG	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		766		chr1	TogoVar
BTBD1_chr15_83011423_83072252	83051873	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18906.hp1 HG02630.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0229 a0001c0001t0001g0230	2	328	0.0061	16	c.559 others(33): Show c.559-1696_559-1695insGTGTGTGTGTGTGTGT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83051875	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG02976.hp2 others(3): Show HG01167.hp1 HG01243.hp1 HG02976.hp2 NA18943.hp2 NA18967.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0001 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0221 a0001c0001t0001g0254 a0001c0001t0005g0065 others(3): Show a0001c0001t0001g0221 a0001c0001t0001g0254 a0001c0001t0005g0065 a0001c0001t0009g0026 a0001c0001t0009g0027 a0001c0001t0009g0028	6	328	0.0183	16	c.559 others(33): Show c.559-1698_559-1697insGTGTGTGTGTGTGTGT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83051877	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG01192.hp1 others(49): Show HG00408.hp2 HG00438.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp1 HG01496.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02273.hp2 HG02559.hp1 HG02572.hp1 HG02809.hp1 HG03195.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp1 HG03942.hp2 HG04115.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18956.hp2 NA18960.hp2 NA18963.hp1 NA18965.hp2 NA18978.hp1 NA18983.hp1 NA18985.hp1 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19074.hp2 NA19082.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0006 a0001c0001 a0001c0007 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0007t0014 a0003c0006t0001	a0001c0001t0001g0124 a0001c0001t0001g0135 a0001c0001t0001g0136 others(49): Show a0001c0001t0001g0124 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0227 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0002g0047 a0001c0001t0002g0059 a0001c0001t0005g0073 a0001c0001t0007g0250 a0001c0001t0011g0259 a0001c0001t0012g0217 a0001c0001t0017g0215 a0001c0007t0014g0107 a0003c0006t0001g0249	52	328	0.1585	16	c.559 others(33): Show c.559-1715_559-1700dupGTGTGTGTGTGTGTGT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83051877	T T	TATACACA others(9): Show TATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00639.hp2 others(8): Show HG00140.hp1 HG00323.hp1 HG00639.hp2 HG00735.hp2 HG01884.hp2 HG01928.hp2 HG02273.hp1 HG02895.hp1 HG02897.hp2 HG03225.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008	a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 others(8): Show a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0006g0087 a0001c0001t0008g0083 a0001c0001t0008g0090	11	328	0.0335	16	c.559 others(33): Show c.559-1700_559-1699insGTGTGTGTGTGTGTAT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83051903	C C	CACACACA others(9): Show CACACACACACACACAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	328	0.0031	16	c.559 others(33): Show c.559-1726_559-1725insATGTGTGTGTGTGTGT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83056704	T T	TATCCATC others(9): Show TATCCATCCATCCATCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0014 a0001c0007t0014	a0001c0007t0014g0107 a0001c0007t0014g0107	1	328	0.0031	16	c.402 others(31): Show c.402-175_402-160dupGGATGGATGGATGGAT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	1/7			chr15	TogoVar
BTBD2_chr19_1980448_2020714	2008589	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	1	364	0.0028	16	c.407 others(33): Show c.407+6692_407+6707dupAAAAAAAAAAAAAAAA	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	1/8			chr19	TogoVar
BTBD2_chr19_1980448_2020714	2017817	A A	ATATATAT others(9): Show ATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG03098.hp1 HG02895.hp2 HG03098.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0015 a0003c0006t0001 a0001c0001t0015 a0003c0006t0001	a0001c0001t0015g0239 a0003c0006t0001g0142 a0001c0001t0015g0239 a0003c0006t0001g0142	2	364	0.0055	16	c.-21 others(27): Show c.-2115_-2114insAATATATATATATATA	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding		2104		chr19	TogoVar
BTBD6_chr14_105243533_105256093	105248573	G G	GCGGGCGG others(9): Show GCGGGCGGGTACGGGCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0001 a0001c0003t0019g0001	1	278	0.0036	16	c.-13 others(25): Show c.-131_-130insTACGGGCTCGGGCGGG	BTBD6	ENSG00000184887.14	transcript	ENST00000392554.8	protein_coding	1/4	130	INFO_REALIGN_3_PRIME	chr14	TogoVar
BTBD7_chr14_93232550_93338036	93287228	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19060.hp1 HG02027.hp1 NA19060.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0008 a0003c0003t0029 a0002c0002t0008 a0003c0003t0029	a0002c0002t0008g0145 a0003c0003t0029g0133 a0002c0002t0008g0145 a0003c0003t0029g0133	2	375	0.0053	16	c.116 others(35): Show c.1162+6629_1162+6630insTTTTTTTTTTTTTTTT	BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	3/10			chr14	TogoVar
BTBD7_chr14_93232550_93338036	93324428	A A	AAAATAAA others(9): Show AAAATAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG00733.hp2 others(29): Show HG00639.hp1 HG00642.hp2 HG00733.hp2 HG01891.hp1 HG02055.hp1 HG02257.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03831.hp1 HG03942.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0005c0006 a0008c0008 a0001c0001 a0005c0006 a0008c0008	a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 others(8): Show a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0030 a0001c0001t0057 a0001c0001t0058 a0005c0006t0007 a0008c0008t0017	a0001c0001t0007g0168 a0001c0001t0007g0252 a0001c0001t0007g0255 others(29): Show a0001c0001t0007g0168 a0001c0001t0007g0252 a0001c0001t0007g0255 a0001c0001t0007g0256 a0001c0001t0007g0264 a0001c0001t0007g0267 a0001c0001t0007g0268 a0001c0001t0007g0269 a0001c0001t0011g0253 a0001c0001t0011g0254 a0001c0001t0011g0277 a0001c0001t0011g0278 a0001c0001t0011g0279 a0001c0001t0014g0179 a0001c0001t0014g0180 a0001c0001t0014g0181 a0001c0001t0014g0182 a0001c0001t0015g0270 a0001c0001t0015g0271 a0001c0001t0015g0272 a0001c0001t0015g0273 a0001c0001t0017g0282 a0001c0001t0017g0283 a0001c0001t0018g0274 a0001c0001t0018g0275 a0001c0001t0018g0276 a0001c0001t0030g0250 a0001c0001t0030g0265 a0001c0001t0057g0281 a0001c0001t0058g0251 a0005c0006t0007g0266 a0008c0008t0017g0284	32	375	0.0853	16	c.-10 others(35): Show c.-107+8391_-107+8392insATTTTTTTTTTTATTT	BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10			chr14	TogoVar
BTBD8_chr1_92075345_92189723	92144810	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp2 HG02451.hp1 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0018 a0001c0003t0004g0021 a0001c0003t0004g0018 a0001c0003t0004g0021	2	158	0.0127	16	c.931 others(33): Show c.931-2353_931-2338dupACACACACACACACAC	BTBD8	ENSG00000189195.15	transcript	ENST00000636805.2	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD8_chr1_92075345_92189723	92175477	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0110 a0007c0010t0001g0110	1	158	0.0063	16	c.163 others(35): Show c.1636-1345_1636-1330dupAAAAAAAAAAAAAAAA	BTBD8	ENSG00000189195.15	transcript	ENST00000636805.2	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD9_chr6_38163451_38644929	38163793	T T	TACACACA others(9): Show TACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 NA19043.hp2 HG03540.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0172 a0001c0001t0064 a0001c0001t0172	a0001c0001t0064g0184 a0001c0001t0172g0175 a0001c0001t0064g0184 a0001c0001t0172g0175	2	224	0.0089	16	c.11 others(29): Show c.11191_*11192insGTGTGTGTGTGTGTGT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding		4657		chr6	TogoVar
BTBD9_chr6_38163451_38644929	38166286	A A	ACGTACAG others(9): Show ACGTACAGCAGAACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0173 a0001c0001t0173	a0001c0001t0173g0176 a0001c0001t0173g0176	1	224	0.0045	16	c.86 others(27): Show c.8698_*8699insAGGGTTCTGCTGTACG	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding		2164		chr6	TogoVar
BTBD9_chr6_38163451_38644929	38205879	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00558.hp1 others(5): Show HG00140.hp1 HG00140.hp2 HG00558.hp1 HG01255.hp2 HG01261.hp2 HG02976.hp1 NA18906.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0001t0037 a0001c0001t0038 a0001c0001t0046 a0001c0001t0088	a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0008g0213 others(5): Show a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0008g0213 a0001c0001t0011g0022 a0001c0001t0037g0201 a0001c0001t0038g0187 a0001c0001t0046g0119 a0001c0001t0088g0020	8	224	0.0357	16	c.156 others(37): Show c.1563-13283_1563-13282insTTTTTTTTTTTTTTTT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	9/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38266605	G G	GGAAAGAA others(9): Show GGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0119	a0001c0001t0119g0114 a0001c0001t0119g0114	1	224	0.0045	16	c.145 others(37): Show c.1455-10105_1455-10090dupTTTCTTTCTTTCTTTC	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	8/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38302485	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01433.hp2 HG02809.hp1 others(3): Show HG01256.hp1 HG01433.hp2 HG02809.hp1 HG03927.hp2 NA18963.hp2 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0001c0001t0008 a0001c0001t0058 others(3): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0058 a0001c0001t0095 a0001c0001t0161 a0002c0003t0183	a0001c0001t0007g0018 a0001c0001t0008g0054 a0001c0001t0058g0041 others(3): Show a0001c0001t0007g0018 a0001c0001t0008g0054 a0001c0001t0058g0041 a0001c0001t0095g0023 a0001c0001t0161g0009 a0002c0003t0183g0008	6	224	0.0268	16	c.126 others(37): Show c.1265-14040_1265-14025dupTATATATATATATATA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38303840	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18970.hp1 NA18953.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0162 a0001c0001t0117 a0001c0001t0162	a0001c0001t0117g0157 a0001c0001t0162g0132 a0001c0001t0117g0157 a0001c0001t0162g0132	2	224	0.0089	16	c.126 others(37): Show c.1265-15395_1265-15380dupATATATATATATATAT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38328564	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01952.hp1 HG01993.hp2 others(5): Show HG00558.hp2 HG01952.hp1 HG01993.hp2 HG02074.hp1 HG02132.hp1 HG02886.hp1 NA19030.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0023 a0001c0001t0125 a0001c0001t0128 a0001c0001t0170	a0001c0001t0001g0101 a0001c0001t0002g0099 a0001c0001t0002g0202 others(5): Show a0001c0001t0001g0101 a0001c0001t0002g0099 a0001c0001t0002g0202 a0001c0001t0014g0030 a0001c0001t0023g0222 a0001c0001t0125g0029 a0001c0001t0128g0162 a0001c0001t0170g0178	8	224	0.0357	16	c.126 others(37): Show c.1264+16404_1264+16419dupACACACACACACACAC	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38374284	T T	TATATATA others(9): Show TATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0178 a0001c0001t0178	a0001c0001t0178g0071 a0001c0001t0178g0071	1	224	0.0045	16	c.115 others(37): Show c.1155-29192_1155-29191insGTGTATATATATATAT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38374309	A A	ATATATGT others(9): Show ATATATGTATATATATG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03654.hp2 HG03669.hp2 others(1): Show HG01255.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0036 a0001c0001t0050 others(1): Show a0001c0001t0011 a0001c0001t0036 a0001c0001t0050 a0001c0001t0159	a0001c0001t0011g0022 a0001c0001t0036g0205 a0001c0001t0050g0021 others(1): Show a0001c0001t0011g0022 a0001c0001t0036g0205 a0001c0001t0050g0021 a0001c0001t0159g0204	4	224	0.0179	16	c.115 others(37): Show c.1155-29217_1155-29216insCATATATATACATATA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38375891	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01261.hp2 HG01943.hp1 others(4): Show HG00140.hp1 HG01261.hp2 HG01943.hp1 HG02273.hp2 HG03669.hp2 NA18964.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0049 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0049 a0001c0001t0050 a0001c0001t0071 a0001c0001t0091 a0001c0001t0129	a0001c0001t0001g0212 a0001c0001t0008g0213 a0001c0001t0049g0067 others(4): Show a0001c0001t0001g0212 a0001c0001t0008g0213 a0001c0001t0049g0067 a0001c0001t0050g0021 a0001c0001t0071g0165 a0001c0001t0091g0033 a0001c0001t0129g0206	7	224	0.0313	16	c.115 others(37): Show c.1155-30814_1155-30799dupCTTTCTTTCTTTCTTT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38425927	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0154 a0001c0001t0076g0154	1	224	0.0045	16	c.115 others(37): Show c.1155-80850_1155-80835dupGTGTGTGTGTGTGTGT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38435612	T T	TTCCTTCC others(9): Show TTCCTTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0169 a0001c0001t0169	a0001c0001t0169g0171 a0001c0001t0169g0171	1	224	0.0045	16	c.115 others(37): Show c.1155-90520_1155-90519insGGGAGGGAGGGAAGGA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38438254	G G	GGAAGGAA others(9): Show GGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02486.hp2 others(11): Show HG02055.hp2 HG02257.hp1 HG02486.hp2 HG02647.hp1 HG02970.hp2 HG03195.hp2 NA18522.hp2 NA18957.hp2 NA18970.hp1 NA18977.hp1 NA18999.hp2 NA19004.hp1 NA19030.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0053 a0001c0001t0055 others(10): Show a0001c0001t0022 a0001c0001t0053 a0001c0001t0055 a0001c0001t0067 a0001c0001t0075 a0001c0001t0084 a0001c0001t0085 a0001c0001t0099 a0001c0001t0109 a0001c0001t0114 a0001c0001t0155 a0001c0001t0162 a0001c0001t0166	a0001c0001t0022g0182 a0001c0001t0022g0183 a0001c0001t0053g0151 others(11): Show a0001c0001t0022g0182 a0001c0001t0022g0183 a0001c0001t0053g0151 a0001c0001t0055g0097 a0001c0001t0067g0181 a0001c0001t0075g0185 a0001c0001t0084g0068 a0001c0001t0085g0031 a0001c0001t0099g0177 a0001c0001t0109g0032 a0001c0001t0114g0013 a0001c0001t0155g0166 a0001c0001t0162g0132 a0001c0001t0166g0135	14	224	0.0625	16	c.115 others(37): Show c.1155-93162_1155-93161insTTTCCTTCCTTCCTTC	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38448156	T T	TTCCGCAA others(9): Show TTCCGCAACCAAAATTC	intron_variant intron_variant	MODIFIER	NA20805.hp1 homoSapiens_chm13v2.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0145 a0001c0001t0060 a0001c0001t0145	a0001c0001t0060g0199 a0001c0001t0145g0200 a0001c0001t0060g0199 a0001c0001t0145g0200	2	224	0.0089	16	c.115 others(39): Show c.1155-103079_1155-103064dupGAATTTTGGTTGCGGA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38465753	A A	ATATATAT others(9): Show ATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0223 a0001c0001t0059g0223	1	224	0.0045	16	c.115 others(39): Show c.1154+111846_1154+111847insCATACATATATATATA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38505964	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03130.hp1 HG02258.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0112 a0001c0001t0013 a0001c0001t0112	a0001c0001t0013g0081 a0001c0001t0112g0126 a0001c0001t0013g0081 a0001c0001t0112g0126	2	224	0.0089	16	c.115 others(37): Show c.1154+71620_1154+71635dupTTTTTTTTTTTTTTTT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38527263	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0013 a0001c0001t0114g0013	1	224	0.0045	16	c.115 others(37): Show c.1154+50321_1154+50336dupTTTTTTTTTTTTTTTT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38557015	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02572.hp2 HG01261.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0103 a0001c0001t0045 a0001c0001t0103	a0001c0001t0045g0003 a0001c0001t0103g0014 a0001c0001t0045g0003 a0001c0001t0103g0014	2	224	0.0089	16	c.115 others(37): Show c.1154+20569_1154+20584dupTTTTTTTTTTTTTTTT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTC_chr4_74739759_74799523	74749483	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01167.hp1 others(5): Show HG01070.hp2 HG01071.hp2 HG01167.hp1 HG02145.hp1 HG02486.hp2 HG02922.hp2 HG03130.hp1 NA18906.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0005c0005t0004 a0005c0005t0007 a0001c0001t0002 a0005c0005t0004 a0005c0005t0007	a0001c0001t0002g0206 a0001c0001t0002g0315 a0005c0005t0004g0002 others(3): Show a0001c0001t0002g0206 a0001c0001t0002g0315 a0005c0005t0004g0002 a0005c0005t0004g0089 a0005c0005t0004g0092 a0005c0005t0007g0039	8	360	0.0222	16	c.428 others(33): Show c.428+1074_428+1089dupATTTATTTATTTATTT	BTC	ENSG00000174808.12	transcript	ENST00000395743.8	protein_coding	4/5			chr4	TogoVar
BTF3L4_chr1_52051295_52095716	52073493	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	276	0.0036	16	c.168 others(33): Show c.168+8577_168+8592dupCACACACACACACACA	BTF3L4	ENSG00000134717.18	transcript	ENST00000313334.13	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
BTK_chrX_101344450_101391191	101382311	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00735.hp1 others(31): Show HG00438.hp1 HG00558.hp2 HG00735.hp1 HG01346.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG01993.hp2 HG02145.hp1 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp2 HG02970.hp1 HG03130.hp1 HG03225.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 NA18747.hp1 NA18967.hp1 NA18993.hp1 NA18995.hp1 NA19011.hp2 NA19012.hp1 NA19080.hp1 NA19081.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0006 a0001c0004t0001 a0001c0001t0001 a0001c0001t0006 a0001c0004t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(28): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0266 a0001c0001t0006g0095 a0001c0004t0001g0096	34	303	0.1122	16	c.-31 others(33): Show c.-31+3735_-31+3750dupTAAATAAATAAATAAA	BTK	ENSG00000010671.18	transcript	ENST00000308731.8	protein_coding	1/18			chrX	TogoVar
BTLA_chr3_112458966_112504472	112469607	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19078.hp1 NA19009.hp1 NA19078.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0003 a0003c0003t0017 a0002c0002t0003 a0003c0003t0017	a0002c0002t0003g0204 a0003c0003t0017g0270 a0002c0002t0003g0204 a0003c0003t0017g0270	2	344	0.0058	16	c.594 others(31): Show c.594+135_594+150dupTATATATATATATATA	BTLA	ENSG00000186265.10	transcript	ENST00000334529.10	protein_coding	4/4			chr3	TogoVar
BTN2A2_chr6_26378108_26399874	26382670	A A	AGAAAGAA others(9): Show AGAAAGAAAGAAAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0007 a0006c0008t0007	a0006c0008t0007g0012 a0006c0008t0007g0012	1	390	0.0026	16	c.-54 others(25): Show c.-542_-541insGAAAGAAAGAAAGAAG	BTN2A2	ENSG00000124508.17	transcript	ENST00000356709.9	protein_coding		437		chr6	TogoVar
BTN3A1_chr6_26397275_26420208	26411000	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp2 HG03491.hp2 HG02451.hp1 HG02615.hp2 HG03491.hp2	a0003 a0006 a0003 a0006	a0003c0005 a0006c0008 a0003c0005 a0006c0008	a0003c0005t0009 a0006c0008t0012 a0003c0005t0009 a0006c0008t0012	a0003c0005t0009g0080 a0006c0008t0012g0057 a0006c0008t0012g0062 a0003c0005t0009g0080 a0006c0008t0012g0057 a0006c0008t0012g0062	3	394	0.0076	16	c.965 others(30): Show c.965-101_965-86dupAAAAAAAAAAAAAAAA	BTN3A1	ENSG00000026950.17	transcript	ENST00000289361.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr6	TogoVar

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