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
BBS9_chr7_33124564_33611069	33590459	G G	GTTTTTTT others(9): Show GTTTTTTTGTTTTTGTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00423.hp2 others(51): Show HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01109.hp2 HG01175.hp2 HG01243.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02129.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03516.hp1 HG06807.hp2 NA18522.hp1 NA18942.hp1 NA18945.hp1 NA18949.hp2 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA19000.hp1 NA19010.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19063.hp1 NA19082.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0009 a0001c0021 others(5): Show a0001c0001 a0001c0009 a0001c0021 a0002c0002 a0004c0004 a0005c0011 a0005c0012 a0006c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0009t0001 a0001c0021t0001 a0002c0002t0001 a0002c0002t0003 a0004c0004t0001 a0005c0011t0001 a0005c0012t0015 a0006c0005t0001	a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0001g0063 others(51): Show a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0204 a0001c0001t0001g0217 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0003g0010 a0001c0001t0003g0027 a0001c0001t0003g0037 a0001c0001t0008g0210 a0001c0001t0008g0233 a0001c0009t0001g0240 a0001c0009t0001g0241 a0001c0021t0001g0251 a0002c0002t0001g0179 a0002c0002t0001g0195 a0002c0002t0003g0003 a0002c0002t0003g0028 a0002c0002t0003g0031 a0004c0004t0001g0186 a0005c0011t0001g0236 a0005c0011t0001g0238 a0005c0012t0015g0237 a0006c0005t0001g0140 a0006c0005t0001g0180	54	268	0.2015	16	c.252 others(37): Show c.2522-14399_2522-14398insGTTTTTGTTTTTTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33596359	T T	TTATCTAT others(9): Show TTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00741.hp1 HG01243.hp1 others(16): Show HG00609.hp2 HG00741.hp1 HG01243.hp1 HG02615.hp1 HG02630.hp1 HG02886.hp1 HG02895.hp2 HG02970.hp2 HG03098.hp1 HG03471.hp2 HG03486.hp2 NA18942.hp1 NA18967.hp1 NA19012.hp2 NA19077.hp2 NA19082.hp1 NA19083.hp2 NA19087.hp2 NA19240.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0021 a0002c0002 others(1): Show a0001c0001 a0001c0021 a0002c0002 a0006c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0021t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0006c0005t0001	a0001c0001t0001g0070 a0001c0001t0001g0108 a0001c0001t0001g0125 others(16): Show a0001c0001t0001g0070 a0001c0001t0001g0108 a0001c0001t0001g0125 a0001c0001t0001g0145 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0254 a0001c0001t0002g0220 a0001c0001t0003g0037 a0001c0001t0005g0059 a0001c0001t0005g0074 a0001c0001t0013g0042 a0001c0021t0001g0251 a0002c0002t0001g0224 a0002c0002t0003g0031 a0002c0002t0005g0192 a0006c0005t0001g0180	19	268	0.0709	16	c.252 others(35): Show c.2522-8486_2522-8471dupCTATCTATCTATCTAT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33596391	C C	CTATCTAT others(9): Show CTATCTATCTATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	268	0.0037	16	c.252 others(35): Show c.2522-8471_2522-8470insCTATCTATATATATAT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33596391	C C	CTATCTAT others(9): Show CTATCTATCTATCTATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02683.hp2 HG03209.hp2 HG02258.hp2 HG02683.hp2 HG03209.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0005 a0002c0002 a0006c0005	a0002c0002t0007 a0002c0002t0014 a0006c0005t0007 a0002c0002t0007 a0002c0002t0014 a0006c0005t0007	a0002c0002t0007g0166 a0002c0002t0014g0029 a0006c0005t0007g0128 a0002c0002t0007g0166 a0002c0002t0014g0029 a0006c0005t0007g0128	3	268	0.0112	16	c.252 others(35): Show c.2522-8471_2522-8470insCTATCTATCTATATAT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107565443	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0074 a0001c0001t0038g0074	1	222	0.0045	16	c.-84 others(35): Show c.-84+39067_-84+39082dupTTATTTATTTATTTAT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107692170	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA20129.hp1 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0046 a0001c0001t0006g0049 a0001c0001t0006g0046 a0001c0001t0006g0049	2	222	0.0090	16	c.-9- others(33): Show c.-9-18263_-9-18248dupTATTTATTTATTTATT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107769227	T T	TAGATAGA others(9): Show TAGATAGACAGATAGAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0211 a0001c0001t0016g0211	1	222	0.0045	16	c.907 others(33): Show c.907-3398_907-3397insTAGACAGATAGACAGA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107778994	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01256.hp1 HG01433.hp1 others(3): Show HG01081.hp1 HG01256.hp1 HG01433.hp1 HG03098.hp2 HG03540.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0007t0014	a0001c0001t0002g0169 a0001c0001t0003g0153 a0001c0001t0003g0207 others(3): Show a0001c0001t0002g0169 a0001c0001t0003g0153 a0001c0001t0003g0207 a0001c0001t0004g0106 a0001c0001t0015g0037 a0001c0007t0014g0047	6	222	0.0270	16	c.220 others(33): Show c.2203+487_2203+502dupTATATATATATATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797337	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01175.hp1 HG01175.hp2 others(4): Show HG01099.hp1 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01256.hp2 HG01517.hp2 HG03239.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0169 a0001c0001t0002g0189 a0001c0001t0002g0199 others(4): Show a0001c0001t0002g0169 a0001c0001t0002g0189 a0001c0001t0002g0199 a0002c0002t0002g0003 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0150	7	222	0.0315	16	c.235 others(35): Show c.2354-1174_2354-1159dupTATATATATATATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BCAN_chr1_156637117_156664528	156643631	C C	CAGAGAGA others(9): Show CAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	420	0.0024	16	c.-9+ others(31): Show c.-9+1357_-9+1358insGAGAGAGAGAGAGAGA	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
BCAN_chr1_156637117_156664528	156643633	C C	CAGAGAGA others(9): Show CAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01993.hp1 HG02004.hp1 others(8): Show HG01516.hp2 HG01993.hp1 HG02004.hp1 HG02148.hp1 HG02683.hp2 HG02738.hp1 HG02818.hp1 HG03688.hp1 NA18977.hp2 NA18986.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0002c0002 others(1): Show a0001c0001 a0001c0012 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0012t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0012t0001 a0002c0002t0001 a0002c0003t0001	a0001c0001t0001g0252 a0001c0001t0002g0046 a0001c0001t0002g0140 others(7): Show a0001c0001t0001g0252 a0001c0001t0002g0046 a0001c0001t0002g0140 a0001c0012t0001g0138 a0002c0002t0001g0139 a0002c0003t0001g0061 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0136 a0002c0003t0001g0137	11	420	0.0262	16	c.-9+ others(31): Show c.-9+1359_-9+1360insGAGAGAGAGAGAGAGA	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
BCAN_chr1_156637117_156664528	156643633	C C	CAGAGGGA others(9): Show CAGAGGGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02965.hp2 NA20129.hp1 HG02886.hp1 HG02965.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0002 a0001c0001t0001 a0003c0004t0002	a0001c0001t0001g0152 a0003c0004t0002g0029 a0001c0001t0001g0152 a0003c0004t0002g0029	3	420	0.0071	16	c.-9+ others(31): Show c.-9+1359_-9+1360insGAGGGAGAGAGAGAGA	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
BCAN_chr1_156637117_156664528	156643635	C C	CACAGAGA others(9): Show CACAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	420	0.0024	16	c.-9+ others(31): Show c.-9+1361_-9+1362insCAGAGAGAGAGAGAGA	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
BCAN_chr1_156637117_156664528	156643635	C C	CAGAGAGA others(9): Show CAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	420	0.0024	16	c.-9+ others(31): Show c.-9+1378_-9+1393dupGAGAGAGAGAGAGAGA	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
BCAP29_chr7_107575246_107625478	107612437	A A	ATATATAT others(9): Show ATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19090.hp1 HG03540.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0242 a0001c0001t0001g0176 a0001c0001t0001g0242	2	398	0.0050	16	c.590 others(31): Show c.590-892_590-891insATATATATTTATTTAT	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107612437	A A	ATATATAT others(9): Show ATATATATTTATTTATT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	398	0.0025	16	c.590 others(31): Show c.590-892_590-891insATATTTATTTATTTAT	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS1_chr20_53938541_54075594	53941411	T T	TGTGTGTG others(9): Show TGTGTGTGTGCGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG01192.hp1 others(17): Show HG00140.hp1 HG00609.hp2 HG01192.hp1 HG01243.hp1 HG01346.hp1 HG01516.hp1 HG01891.hp1 HG02040.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02280.hp1 HG02572.hp2 HG02886.hp1 HG02895.hp2 HG03209.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0006 a0008 a0012 a0016 a0017 a0019	a0001c0001 a0002c0002 a0003c0003 others(7): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006 a0008c0010 a0012c0016 a0012c0031 a0016c0019 a0017c0024 a0019c0022	a0001c0001t0010 a0001c0001t0015 a0002c0002t0010 others(11): Show a0001c0001t0010 a0001c0001t0015 a0002c0002t0010 a0002c0002t0019 a0003c0003t0028 a0006c0006t0012 a0006c0006t0029 a0006c0006t0066 a0008c0010t0017 a0012c0016t0010 a0012c0031t0005 a0016c0019t0012 a0017c0024t0010 a0019c0022t0012	a0001c0001t0010g0077 a0001c0001t0015g0343 a0002c0002t0010g0244 others(17): Show a0001c0001t0010g0077 a0001c0001t0015g0343 a0002c0002t0010g0244 a0002c0002t0019g0195 a0003c0003t0028g0016 a0003c0003t0028g0032 a0006c0006t0012g0069 a0006c0006t0012g0178 a0006c0006t0012g0191 a0006c0006t0029g0144 a0006c0006t0029g0347 a0006c0006t0066g0172 a0008c0010t0017g0240 a0012c0016t0010g0190 a0012c0031t0005g0043 a0016c0019t0012g0296 a0017c0024t0010g0236 a0017c0024t0010g0239 a0019c0022t0012g0233 a0019c0022t0012g0308	20	364	0.0550	16	c.35 others(27): Show c.3510_*3511insGCGCGCGCACACACAC	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding		2129		chr20	TogoVar
BCAS1_chr20_53938541_54075594	53941411	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG03225.hp2 HG02055.hp1 HG02486.hp1 HG03225.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0017 a0003c0003 a0001c0001 a0001c0017 a0003c0003	a0001c0001t0068 a0001c0017t0012 a0003c0003t0024 a0001c0001t0068 a0001c0017t0012 a0003c0003t0024	a0001c0001t0068g0359 a0001c0017t0012g0207 a0003c0003t0024g0237 a0001c0001t0068g0359 a0001c0017t0012g0207 a0003c0003t0024g0237	3	364	0.0082	16	c.35 others(27): Show c.3510_*3511insGCGCGCACACACACAC	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding		2129		chr20	TogoVar
BCAS1_chr20_53938541_54075594	53941421	C C	CGCGCGTG others(9): Show CGCGCGTGTGTGTGCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0325 a0001c0001t0004g0325	1	364	0.0028	16	c.35 others(27): Show c.3500_*3501insACGCACACACACGCGC	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding		2119		chr20	TogoVar
BCAS1_chr20_53938541_54075594	53954294	G G	GGAGAGAG others(9): Show GGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0032 a0032	a0032c0042 a0032c0042	a0032c0042t0023 a0032c0042t0023	a0032c0042t0023g0271 a0032c0042t0023g0271	1	364	0.0028	16	c.155 others(33): Show c.1552-615_1552-600dupTCTCTCTCTCTCTCTC	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	11/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	53994888	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03669.hp1 NA18747.hp2 others(1): Show HG02647.hp1 HG03669.hp1 NA18747.hp2 NA19074.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0011 a0001c0001t0039 a0003c0003t0002 others(1): Show a0001c0001t0011 a0001c0001t0039 a0003c0003t0002 a0003c0003t0005	a0001c0001t0011g0025 a0001c0001t0039g0358 a0003c0003t0002g0258 others(1): Show a0001c0001t0011g0025 a0001c0001t0039g0358 a0003c0003t0002g0258 a0003c0003t0005g0051	4	364	0.0110	16	c.927 others(31): Show c.927+108_927+123dupGTGTGTGTGTGTGTGT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	6/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	54041855	T T	TGCCACTG others(9): Show TGCCACTGTGCCACTGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02738.hp2 NA20905.hp2 HG00735.hp1 HG02738.hp2 NA20905.hp2	a0013 a0030 a0031 a0013 a0030 a0031	a0013c0013 a0030c0046 a0031c0045 a0013c0013 a0030c0046 a0031c0045	a0013c0013t0002 a0030c0046t0001 a0031c0045t0003 a0013c0013t0002 a0030c0046t0001 a0031c0045t0003	a0013c0013t0002g0155 a0030c0046t0001g0286 a0031c0045t0003g0270 a0013c0013t0002g0155 a0030c0046t0001g0286 a0031c0045t0003g0270	3	364	0.0082	16	c.143 others(35): Show c.143-12884_143-12883insGCAGTGGCACAGTGGC	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	3/12			chr20	TogoVar
BCAS3_chr17_60672851_61397831	60700185	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	74	0.0135	16	c.215 others(33): Show c.215-9034_215-9033insAAAAAAAAAAAAAAAG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	4/23			chr17	TogoVar
BCAS3_chr17_60672851_61397831	60753383	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	74	0.0135	16	c.403 others(33): Show c.403+6133_403+6148dupTTTATTTATTTATTTA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60802371	C C	CATACATA others(9): Show CATACATACATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02970.hp1 HG03041.hp1 others(1): Show HG01891.hp1 HG02970.hp1 HG03041.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0045 a0001c0004t0001g0047 a0001c0004t0001g0049 others(1): Show a0001c0004t0001g0045 a0001c0004t0001g0047 a0001c0004t0001g0049 a0001c0004t0002g0044	4	74	0.0541	16	c.404 others(33): Show c.404-5630_404-5629insCATACATATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60814304	T T	TGCGCGCG others(9): Show TGCGCGCGCGCGTGTGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp1 HG02897.hp2 others(5): Show HG02451.hp2 HG02886.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0003 a0003c0001 a0001c0004 a0002c0003 a0003c0001	a0001c0004t0002 a0002c0003t0001 a0002c0003t0002 others(2): Show a0001c0004t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0003c0001t0001	a0001c0004t0002g0035 a0001c0004t0002g0050 a0002c0003t0001g0015 others(5): Show a0001c0004t0002g0035 a0001c0004t0002g0050 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0002g0048 a0002c0003t0003g0013 a0003c0001t0001g0007	8	74	0.1081	16	c.476 others(33): Show c.476+6229_476+6230insCGCGCGCGCGTGTGCG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60814306	T T	TGTGTGTG others(9): Show TGTGTGTGCGCGTGCGC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0014 a0002c0005t0001g0014	1	74	0.0135	16	c.476 others(33): Show c.476+6231_476+6232insTGTGTGCGCGTGCGCG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60992189	T T	TCCACACA others(9): Show TCCACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19240.hp1 HG03130.hp2 NA19240.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0019 a0002c0005t0001g0020 a0002c0005t0001g0019 a0002c0005t0001g0020	2	74	0.0270	16	c.148 others(35): Show c.1486+1954_1486+1955insCCACACACACACACAC	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	15/23			chr17	TogoVar
BCAS3_chr17_60672851_61397831	61042891	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02965.hp2 HG03098.hp1 others(2): Show HG00639.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03471.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0005 a0002c0006 others(1): Show a0001c0002 a0002c0005 a0002c0006 a0003c0010	a0001c0002t0001 a0001c0002t0002 a0002c0005t0001 others(2): Show a0001c0002t0001 a0001c0002t0002 a0002c0005t0001 a0002c0006t0002 a0003c0010t0002	a0001c0002t0001g0061 a0001c0002t0002g0064 a0002c0005t0001g0051 others(2): Show a0001c0002t0001g0061 a0001c0002t0002g0064 a0002c0005t0001g0051 a0002c0006t0002g0027 a0003c0010t0002g0023	5	74	0.0676	16	c.202 others(35): Show c.2029+2008_2029+2023dupAAAAAAAAAAAAAAAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61044465	A A	AAAATATA others(9): Show AAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19240.hp1 HG03130.hp2 NA19240.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0019 a0002c0005t0001g0020 a0002c0005t0001g0019 a0002c0005t0001g0020	2	74	0.0270	16	c.202 others(35): Show c.2029+3574_2029+3575insAATATATATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61067273	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0024 a0003c0001t0001g0024	1	74	0.0135	16	c.203 others(35): Show c.2030-7619_2030-7604dupATATATATATATATAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61067273	G G	GTGTGTGT others(9): Show GTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18906.hp2 HG02970.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0065 a0001c0002t0001g0067	2	74	0.0270	16	c.203 others(35): Show c.2030-7646_2030-7645insGTGTGTATATATATAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61192246	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01952.hp1 HG02083.hp1 others(1): Show HG01099.hp2 HG01952.hp1 HG02083.hp1 HG02145.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0002 a0003c0001t0001 a0003c0001t0002	a0003c0001t0001g0002 a0003c0001t0001g0008 a0003c0001t0001g0009 others(1): Show a0003c0001t0001g0002 a0003c0001t0001g0008 a0003c0001t0001g0009 a0003c0001t0002g0032	4	74	0.0541	16	c.242 others(39): Show c.2425+107683_2425+107698dupAAAAAAAAAAAAAAAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61214368	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02897.hp1 HG02897.hp2 others(6): Show HG02615.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0001c0008 others(3): Show a0001c0002 a0001c0004 a0001c0008 a0002c0003 a0002c0006 a0003c0010	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0008t0002 a0002c0003t0002 a0002c0006t0002 a0003c0010t0002	a0001c0002t0001g0061 a0001c0002t0001g0067 a0001c0002t0001g0071 others(6): Show a0001c0002t0001g0061 a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0002g0001 a0001c0004t0001g0045 a0001c0008t0002g0062 a0002c0003t0002g0048 a0002c0006t0002g0030 a0003c0010t0002g0023	9	74	0.1216	16	c.242 others(39): Show c.2425+129818_2425+129833dupAATAAATAAATAAATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61271424	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp1 HG01099.hp2 others(37): Show HG00639.hp2 HG01099.hp1 HG01099.hp2 HG01256.hp1 HG01256.hp2 HG02083.hp1 HG02083.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp1 NA18906.hp2 NA18951.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0001c0008 others(5): Show a0001c0002 a0001c0004 a0001c0008 a0002c0003 a0002c0005 a0002c0006 a0003c0001 a0003c0010	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(8): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0008t0002 a0002c0003t0001 a0002c0003t0003 a0002c0005t0001 a0002c0006t0002 a0003c0001t0001 a0003c0001t0002 a0003c0010t0002	a0001c0002t0001g0056 a0001c0002t0001g0060 a0001c0002t0001g0065 others(37): Show a0001c0002t0001g0056 a0001c0002t0001g0060 a0001c0002t0001g0065 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0069 a0001c0004t0001g0034 a0001c0004t0001g0043 a0001c0004t0001g0045 a0001c0004t0001g0049 a0001c0004t0001g0058 a0001c0008t0002g0062 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0041 a0002c0003t0003g0013 a0002c0005t0001g0014 a0002c0005t0001g0018 a0002c0005t0001g0019 a0002c0005t0001g0073 a0002c0006t0002g0030 a0003c0001t0001g0003 a0003c0001t0001g0005 a0003c0001t0001g0006 a0003c0001t0001g0007 a0003c0001t0001g0008 a0003c0001t0001g0009 a0003c0001t0001g0010 a0003c0001t0001g0011 a0003c0001t0001g0012 a0003c0001t0001g0021 a0003c0001t0001g0024 a0003c0001t0001g0025 a0003c0001t0001g0028 a0003c0001t0001g0031 a0003c0001t0002g0022 a0003c0001t0002g0029 a0003c0010t0002g0023	40	74	0.5405	16	c.242 others(37): Show c.2426-96890_2426-96889insTTTTTTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61285231	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0007 a0003c0001t0001g0007	1	74	0.0135	16	c.242 others(37): Show c.2426-83084_2426-83069dupGTGTGTGTGTGTGTGT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61375246	G G	GTGTGCGC others(9): Show GTGTGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02922.hp1 HG03195.hp2 HG02818.hp1 HG02922.hp1 HG03195.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0001 a0002c0005t0001 a0002c0003t0001 a0002c0005t0001	a0002c0003t0001g0017 a0002c0003t0001g0033 a0002c0005t0001g0073 a0002c0003t0001g0017 a0002c0003t0001g0033 a0002c0005t0001g0073	3	74	0.0405	16	c.259 others(35): Show c.2593+6756_2593+6757insCGCGCGCGCACATGTG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAT1_chr12_24805024_24954101	24824231	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01123.hp2 HG01168.hp2 others(25): Show HG01069.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01261.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02559.hp2 HG02572.hp1 HG02965.hp2 HG02970.hp1 HG03195.hp1 HG03471.hp2 HG03831.hp2 HG06807.hp1 HG06807.hp2 NA18942.hp1 NA18970.hp2 NA18995.hp1 NA18995.hp2 NA19079.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(15): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0026 a0001c0001t0035 a0001c0001t0063 a0001c0001t0064 a0001c0001t0070 a0001c0001t0075 a0001c0001t0082 a0001c0001t0103 a0001c0001t0108 a0001c0001t0109 a0001c0001t0112 a0001c0001t0114	a0001c0001t0002g0020 a0001c0001t0002g0106 a0001c0001t0002g0131 others(25): Show a0001c0001t0002g0020 a0001c0001t0002g0106 a0001c0001t0002g0131 a0001c0001t0002g0145 a0001c0001t0002g0233 a0001c0001t0002g0259 a0001c0001t0002g0270 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0004g0137 a0001c0001t0007g0070 a0001c0001t0010g0309 a0001c0001t0011g0029 a0001c0001t0011g0030 a0001c0001t0011g0271 a0001c0001t0012g0055 a0001c0001t0026g0103 a0001c0001t0035g0104 a0001c0001t0063g0206 a0001c0001t0064g0171 a0001c0001t0070g0197 a0001c0001t0075g0143 a0001c0001t0082g0258 a0001c0001t0103g0049 a0001c0001t0108g0158 a0001c0001t0109g0194 a0001c0001t0112g0182 a0001c0001t0114g0100	28	322	0.0870	16	c.111 others(35): Show c.1119+5576_1119+5591dupGGAAGGAAGGAAGGAA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	10/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24830694	T T	TTTCTAGA others(9): Show TTTCTAGAAGTGAAATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0271 a0001c0001t0011g0271	1	322	0.0031	16	c.104 others(33): Show c.1045-813_1045-798dupTATTTCACTTCTAGAA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	9/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24844894	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01261.hp1 HG01515.hp2 others(5): Show HG00140.hp2 HG01261.hp1 HG01515.hp2 HG02976.hp2 HG03139.hp1 HG03453.hp1 HG03831.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 others(5): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 a0001c0001t0026 a0001c0001t0076 a0001c0001t0077 a0001c0001t0084 a0001c0001t0092	a0001c0001t0002g0267 a0001c0001t0011g0029 a0001c0001t0013g0263 others(5): Show a0001c0001t0002g0267 a0001c0001t0011g0029 a0001c0001t0013g0263 a0001c0001t0026g0264 a0001c0001t0076g0031 a0001c0001t0077g0002 a0001c0001t0084g0038 a0001c0001t0092g0181	8	322	0.0248	16	c.675 others(33): Show c.675-2686_675-2671dupTTTTTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	6/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887078	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0154 a0001c0001t0085g0154	1	322	0.0031	16	c.280 others(33): Show c.280-5668_280-5667insATATATATATATATAT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAA others(9): Show AAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp2 HG01175.hp2 others(3): Show HG00642.hp1 HG01081.hp2 HG01175.hp2 NA18943.hp1 NA18946.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0029 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0029 a0001c0001t0039 a0001c0001t0134 a0001c0001t0135	a0001c0001t0002g0005 a0001c0001t0003g0215 a0001c0001t0029g0318 others(3): Show a0001c0001t0002g0005 a0001c0001t0003g0215 a0001c0001t0029g0318 a0001c0001t0039g0066 a0001c0001t0134g0306 a0001c0001t0135g0298	6	322	0.0186	16	c.280 others(33): Show c.280-5670_280-5669insATATATTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAA others(9): Show AAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	322	0.0031	16	c.280 others(33): Show c.280-5670_280-5669insATATATATTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24936712	A A	ATCTCTCT others(9): Show ATCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA19066.hp2 HG00099.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0291 a0001c0001t0002g0217 a0001c0001t0001g0291 a0001c0001t0002g0217	2	322	0.0062	16	c.6+1 others(31): Show c.6+12214_6+12215insGAGAGAGAGAGAGAGA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	1/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24951590	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04228.hp1 NA18946.hp2 HG04115.hp2 HG04228.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0117 a0001c0001t0001 a0001c0001t0002 a0001c0001t0117	a0001c0001t0001g0144 a0001c0001t0002g0096 a0001c0001t0117g0129 a0001c0001t0001g0144 a0001c0001t0002g0096 a0001c0001t0117g0129	3	322	0.0093	16	c.-26 others(27): Show c.-2659_-2658insTTTTTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding		2490		chr12	TogoVar
BCAT2_chr19_48790064_48816029	48811494	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	408	0.0025	16	c.-48 others(25): Show c.-488_-487insTTTTTTTTTTTTTTTT	BCAT2	ENSG00000105552.15	transcript	ENST00000316273.11	protein_coding		466		chr19	TogoVar
BCKDHA_chr19_41392818_41430002	41428633	A A	ACACAGTC others(9): Show ACACAGTCTGTCAGCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG02258.hp2 HG02723.hp1 others(6): Show HG01123.hp1 HG02258.hp2 HG02723.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp2 HG03195.hp2 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0016 a0001c0004 a0001c0016	a0001c0004t0001 a0001c0004t0002 a0001c0016t0001 a0001c0004t0001 a0001c0004t0002 a0001c0016t0001	a0001c0004t0001g0008 a0001c0004t0001g0103 a0001c0004t0001g0106 others(2): Show a0001c0004t0001g0008 a0001c0004t0001g0103 a0001c0004t0001g0106 a0001c0004t0002g0105 a0001c0016t0001g0104	9	374	0.0241	16	c.40 others(27): Show c.4025_*4026insCACAGTCTGTCAGCAG	BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding		3632		chr19	TogoVar
BCKDHB_chr6_80101671_80351270	80101783	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18974.hp2 NA19056.hp2 NA18973.hp2 NA18974.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0027 a0001c0001t0004g0174 a0001c0001t0007g0226 a0001c0001t0001g0027 a0001c0001t0004g0174 a0001c0001t0007g0226	3	294	0.0102	16	c.-49 others(27): Show c.-4911_-4910insAAATAAATAAATAAAT	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding		4887		chr6	TogoVar
BCKDHB_chr6_80101671_80351270	80134743	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0106 a0001c0003t0022g0106	1	294	0.0034	16	c.343 others(33): Show c.343+5526_343+5541dupATTTATTTATTTATTT	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCKDHB_chr6_80101671_80351270	80168791	A A	AAGGAAGG others(9): Show AAGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00609.hp1 others(51): Show HG00408.hp2 HG00423.hp1 HG00609.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp2 HG01257.hp1 HG01258.hp2 HG01943.hp1 HG02083.hp2 HG02258.hp2 HG02602.hp2 HG02630.hp2 HG02717.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03209.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03704.hp2 HG03831.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18953.hp2 NA18960.hp2 NA18965.hp1 NA18971.hp2 NA18973.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18995.hp2 NA19001.hp1 NA19003.hp1 NA19007.hp1 NA19012.hp2 NA19060.hp2 NA19062.hp2 NA19070.hp2 NA19080.hp2 NA19084.hp1 NA19240.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0002c0002t0004	a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0004g0141 others(51): Show a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0148 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0181 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0209 a0001c0001t0005g0216 a0001c0001t0005g0217 a0001c0001t0005g0218 a0001c0001t0008g0160 a0001c0001t0013g0138 a0001c0001t0013g0139 a0001c0001t0013g0140 a0001c0001t0013g0182 a0001c0001t0032g0201 a0001c0001t0033g0144 a0001c0001t0034g0208 a0001c0001t0035g0202 a0001c0001t0036g0200 a0001c0001t0037g0099 a0002c0002t0004g0145 a0002c0002t0004g0146 a0002c0002t0004g0147	54	294	0.1837	16	c.478 others(29): Show c.478-81_478-80insAAGGGAGGGAGGGAGG	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar

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