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
BABAM2_chr2_27885729_28343901	28248207	C C	CTTTTTCT others(10): Show CTTTTTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0137	1	158	0.0063	17	c.934 others(34): Show c.934+3350_934+3351insCTTTTTTTTTTTTTTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28283019	G G	GAAAGAAA others(10): Show GAAAGAAAGTATTTATTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG00738.hp1 others(26): Show HG00639.hp1 HG00733.hp2 HG00738.hp1 HG01109.hp1 HG01167.hp2 HG02145.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02922.hp1 HG02970.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03834.hp1 NA18906.hp2 NA19043.hp1 NA19043.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 others(26): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0026 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0046 a0001c0001t0002g0064 a0001c0001t0002g0114 a0001c0001t0002g0126 a0001c0001t0002g0141 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0089 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0148	29	158	0.1835	17	c.935 others(36): Show c.935-15319_935-15318insAAAGAAAGTATTTATTA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	10/11			chr2	TogoVar
BACE2_chr21_41163160_41287530	41174138	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01243.hp2 HG01256.hp2 others(7): Show HG01167.hp2 HG01243.hp2 HG01256.hp2 HG01496.hp2 HG02074.hp2 HG02486.hp1 HG02572.hp2 HG02723.hp1 HG02922.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0017 a0001c0001t0053 a0001c0001t0063 a0001c0002t0001	a0001c0001t0001g0173 a0001c0001t0002g0175 a0001c0001t0004g0172 others(7): Show a0001c0001t0001g0173 a0001c0001t0002g0175 a0001c0001t0004g0172 a0001c0001t0006g0171 a0001c0001t0007g0089 a0001c0001t0014g0250 a0001c0001t0017g0270 a0001c0001t0053g0076 a0001c0001t0063g0174 a0001c0002t0001g0025	10	272	0.0368	17	c.312 others(34): Show c.312+5563_312+5564insTTTTTTTTTTTTTTTTT	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	1/8			chr21	TogoVar
BACH2_chr6_89921528_90301843	90065270	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01952.hp2 HG02615.hp1 others(3): Show HG00639.hp1 HG01952.hp2 HG02615.hp1 NA18966.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0021 a0001c0001t0049 a0001c0001t0076 others(3): Show a0001c0001t0021 a0001c0001t0049 a0001c0001t0076 a0001c0001t0079 a0001c0003t0111 a0001c0005t0127	a0001c0001t0021g0101 a0001c0001t0049g0031 a0001c0001t0076g0054 others(3): Show a0001c0001t0021g0101 a0001c0001t0049g0031 a0001c0001t0076g0054 a0001c0001t0079g0153 a0001c0003t0111g0118 a0001c0005t0127g0171	6	194	0.0309	17	c.-13 others(36): Show c.-13+23674_-13+23690dupAAAAAAAAAAAAAAAAA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	5/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092280	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03486.hp1 HG00738.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0084 a0001c0002t0035 a0001c0001t0084 a0001c0002t0035	a0001c0001t0084g0021 a0001c0002t0035g0146 a0001c0001t0084g0021 a0001c0002t0035g0146	2	194	0.0103	17	c.-16 others(36): Show c.-161-3172_-161-3171insTTTTTTTTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0075 a0001c0004t0075	a0001c0004t0075g0144 a0001c0004t0075g0144	1	194	0.0052	17	c.-16 others(36): Show c.-161-3183_-161-3182insATTTTTTTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02155.hp1 HG02071.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0013 a0001c0005t0005 a0001c0001t0013 a0001c0005t0005	a0001c0001t0013g0049 a0001c0005t0005g0095 a0001c0001t0013g0049 a0001c0005t0005g0095	2	194	0.0103	17	c.-16 others(36): Show c.-161-3183_-161-3182insATATATATTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(10): Show ATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0062 a0001c0001t0095g0062	1	194	0.0052	17	c.-16 others(38): Show c.-161-13921_-161-13920insAAAAAAAAAAATATATA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90161703	A A	ATCAGAAT others(10): Show ATCAGAATGCTTAGCAAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0174 a0001c0003t0014g0174	1	194	0.0052	17	c.-16 others(38): Show c.-162+44849_-162+44865dupGTTGCTAAGCATTCTGA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BAG3_chr10_119646380_119682819	119665092	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA18998.hp2 HG01255.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0246 a0001c0001t0005g0295 a0001c0001t0003g0246 a0001c0001t0005g0295	2	420	0.0048	17	c.181 others(34): Show c.181-4759_181-4758insGTGTGTGTGTGTGTGTG	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	1/3			chr10	TogoVar
BAG3_chr10_119646380_119682819	119665092	T T	TTTGTGTG others(10): Show TTTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01106.hp1 HG01256.hp2 others(2): Show HG00323.hp2 HG01106.hp1 HG01256.hp2 HG01261.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0212 a0001c0001t0004g0016 a0001c0001t0004g0253 a0001c0001t0001g0212 a0001c0001t0004g0016 a0001c0001t0004g0253	5	420	0.0119	17	c.181 others(34): Show c.181-4758_181-4757insTGTGTGTGTGTGTGTGT	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAG3_chr10_119646380_119682819	119675778	T T	TCCTTCCC others(10): Show TCCTTCCCTCCTTCCCTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0110 a0003c0004t0005g0110	1	420	0.0024	17	c.910 others(32): Show c.910-684_910-683insTTCCCTCCTTCCCTCCC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAG4_chr8_38171855_38218301	38180522	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02165.hp2 NA19030.hp1 HG00280.hp2 HG02165.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0008g0290 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0008g0290	3	306	0.0098	17	c.270 others(34): Show c.270+3393_270+3409dupAAAAAAAAAAAAAAAAA	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
BAIAP2L1_chr7_98286650_98406090	98401378	C C	CTGGAGTG others(10): Show CTGGAGTGGGGACCGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02717.hp1 NA21309.hp1 HG02615.hp2 HG02717.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0021 a0001c0005t0012 a0001c0005t0021	a0001c0005t0012g0083 a0001c0005t0012g0085 a0001c0005t0021g0084 a0001c0005t0012g0083 a0001c0005t0012g0085 a0001c0005t0021g0084	3	298	0.0101	17	c.-52 others(26): Show c.-527_-526insCACCGGTCCCCACTCCA	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding		289		chr7	TogoVar
BANF1_chr11_65997503_66009149	66007272	A A	ACCACAAG others(10): Show ACCACAAGCCCTGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02976.hp2 HG03486.hp1 others(2): Show HG01109.hp1 HG02976.hp2 HG03486.hp1 HG03516.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	5	374	0.0134	17	c.35 others(28): Show c.3500_*3501insCCACAAGCCCTGCCCCC	BANF1	ENSG00000175334.8	transcript	ENST00000312175.7	protein_coding		3124		chr11	TogoVar
BANK1_chr4_101785730_102079812	101791044	G G	GCACTGAG others(10): Show GCACTGAGGCCAGGGCGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19240.hp1 NA20300.hp1 HG02886.hp2 NA19240.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0003 a0001c0002t0007 a0003c0004t0001 a0001c0001t0003 a0001c0002t0007 a0003c0004t0001	a0001c0001t0003g0002 a0001c0002t0007g0001 a0003c0004t0001g0003 a0001c0001t0003g0002 a0001c0002t0007g0001 a0003c0004t0001g0003	3	284	0.0106	17	c.70+ others(29): Show c.70+96_70+112dupACTGAGGCCAGGGCGTC	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANP_chr16_87946434_88082316	87987712	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0153 a0001c0004t0004g0153	1	352	0.0028	17	c.362 others(34): Show c.362+3464_362+3480dupAAAAAAAAAAAAAAAAA	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	88019578	T T	TGCGGGGG others(10): Show TGCGGGGGGCGGGGCGTG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0073 a0001c0006t0002g0073	1	352	0.0028	17	c.895 others(32): Show c.895+911_895+912insGCGGGGGGCGGGGCGTG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	7/13			chr16	TogoVar
BANP_chr16_87946434_88082316	88081403	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG01884.hp1 HG02257.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0272 a0001c0008t0001g0273 a0001c0008t0001g0272 a0001c0008t0001g0273	2	352	0.0057	17	c.47 others(28): Show c.4742_*4743insAAAAAAAAAAAAAAAAA	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding		4088		chr16	TogoVar
BARHL2_chr1_90706539_90722302	90719504	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02886.hp1 HG02970.hp1 others(1): Show HG02015.hp1 HG02886.hp1 HG02970.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0005 a0001c0001t0002g0014 a0001c0001t0002g0017 others(1): Show a0001c0001t0002g0005 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0005g0083	4	446	0.0090	17	c.-23 others(28): Show c.-2310_-2309insTTTTTTTTTTTTTTTTT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		2203		chr1	TogoVar
BARX1_chr9_93946627_93960355	93950450	A A	ACCCCCCC others(10): Show ACCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02257.hp2 others(2): Show HG01884.hp1 HG02145.hp2 HG02257.hp2 HG03195.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	5	408	0.0123	17	c.17 others(28): Show c.1713_*1714insGGGGGGGGGGGGGGGGG	BARX1	ENSG00000131668.14	transcript	ENST00000253968.11	protein_coding		1176		chr9	TogoVar
BASP1_chr5_17212631_17281834	17212996	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0131 a0001c0001t0013g0131	1	370	0.0027	17	c.-48 others(28): Show c.-4824_-4823insAAAAAAAAAAAAAAAAA	BASP1	ENSG00000176788.9	transcript	ENST00000322611.4	protein_coding		4634		chr5	TogoVar
BATF2_chr11_64982945_65001971	64983512	T T	TTATTTTA others(10): Show TTATTTTATTTTATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01515.hp2 HG01517.hp2 HG00140.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0001 a0001c0001t0001g0033	3	404	0.0074	17	c.56 others(28): Show c.5616_*5617insTAAAATAAAATAAAATA	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		4432		chr11	TogoVar
BATF3_chr1_212681417_212704840	212681420	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00621.hp1 HG01361.hp1 others(19): Show HG00544.hp1 HG00621.hp1 HG01361.hp1 HG01516.hp1 HG02027.hp2 HG02135.hp1 HG02965.hp2 HG03831.hp2 NA18906.hp2 NA18960.hp2 NA18964.hp1 NA18975.hp1 NA18980.hp1 NA18981.hp2 NA18992.hp1 NA18999.hp2 NA19011.hp2 NA19012.hp2 NA19060.hp1 NA19067.hp1 NA19080.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0024 others(17): Show a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0080 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0188 a0002c0002t0001g0277 a0002c0002t0001g0291	22	462	0.0476	17	c.53 others(28): Show c.5370_*5371insAAAAAAAAAAAAAAAAA	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding		4996		chr1	TogoVar
BATF3_chr1_212681417_212704840	212687967	A A	AAAAAGAA others(10): Show AAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	462	0.0022	17	c.196 others(32): Show c.196-989_196-988insCTTTCTTTCTTTCTTTT	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding	2/2			chr1	TogoVar
BAZ1A_chr14_34747731_34880360	34784367	C C	CCAAAAAA others(10): Show CCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0151 a0001c0002t0003g0151	1	380	0.0026	17	c.183 others(34): Show c.1832-441_1832-440insTTTTTTTTTTTTTTTTG	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	14/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34866502	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00423.hp2 others(14): Show HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG01167.hp1 HG01169.hp1 HG02132.hp1 HG02523.hp2 NA18963.hp2 NA18988.hp2 NA19005.hp2 NA19010.hp1 NA19054.hp2 NA19076.hp1 NA19083.hp2 NA19084.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0005 a0001c0003t0012 a0001c0001t0001 a0001c0003t0005 a0001c0003t0012	a0001c0001t0001g0016 a0001c0003t0005g0004 a0001c0003t0005g0006 others(14): Show a0001c0001t0001g0016 a0001c0003t0005g0004 a0001c0003t0005g0006 a0001c0003t0005g0007 a0001c0003t0005g0008 a0001c0003t0005g0009 a0001c0003t0005g0010 a0001c0003t0005g0011 a0001c0003t0005g0012 a0001c0003t0005g0013 a0001c0003t0005g0014 a0001c0003t0005g0015 a0001c0003t0005g0019 a0001c0003t0005g0020 a0001c0003t0005g0021 a0001c0003t0005g0022 a0001c0003t0012g0380	17	380	0.0447	17	c.114 others(34): Show c.114-4181_114-4180insCTTTCTTTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	2/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34866502	A A	AAAAAGAA others(10): Show AAAAAGAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02258.hp2 others(1): Show HG02055.hp2 HG02257.hp1 HG02258.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0364 a0001c0002t0004g0365 a0001c0002t0004g0366 others(1): Show a0001c0002t0004g0364 a0001c0002t0004g0365 a0001c0002t0004g0366 a0001c0002t0004g0367	4	380	0.0105	17	c.114 others(34): Show c.114-4181_114-4180insCTTTCTTTTTTTCTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	2/26			chr14	TogoVar
BAZ1B_chr7_73435406_73527293	73497065	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02257.hp2 HG03225.hp1 others(12): Show HG02015.hp2 HG02257.hp2 HG03225.hp1 HG03654.hp2 HG03942.hp2 NA18906.hp1 NA18954.hp1 NA18969.hp1 NA18985.hp1 NA18991.hp2 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0006 a0001c0001 a0001c0003 a0002c0006	a0001c0001t0002 a0001c0001t0007 a0001c0003t0006 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0003t0006 a0002c0006t0002	a0001c0001t0002g0025 a0001c0001t0002g0033 a0001c0001t0002g0035 others(12): Show a0001c0001t0002g0025 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0007g0175 a0001c0003t0006g0197 a0002c0006t0002g0028	15	200	0.0750	17	c.571 others(34): Show c.571+1415_571+1431dupTTTTTTTTTTTTTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	4/19			chr7	TogoVar
BAZ1B_chr7_73435406_73527293	73497081	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02145.hp2 HG01192.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0051 a0001c0001t0002g0031 a0001c0001t0002g0051	2	200	0.0100	17	c.571 others(34): Show c.571+1415_571+1416insGTTTTTTTTTTTTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	4/19			chr7	TogoVar
BAZ1B_chr7_73435406_73527293	73500890	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19043.hp2 HG03209.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0197 a0001c0003t0006g0198 a0001c0003t0006g0197 a0001c0003t0006g0198	2	200	0.0100	17	c.370 others(34): Show c.370-2193_370-2192insTTTTTTTTTTTTTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	3/19			chr7	TogoVar
BAZ2B_chr2_159313979_159621548	159374836	T T	TATGCAAA others(10): Show TATGCAAAGTACTAGAAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG03041.hp1 HG02572.hp2 HG02896.hp1 HG03041.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0010 a0004c0009t0001g0099 a0004c0009t0001g0100 a0004c0009t0001g0010 a0004c0009t0001g0099 a0004c0009t0001g0100	3	216	0.0139	17	c.400 others(32): Show c.4006-84_4006-83insCTTCTAGTACTTTGCAT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	25/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159491720	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA19066.hp2 NA19079.hp2 others(2): Show HG02896.hp1 NA19066.hp2 NA19079.hp2 NA19084.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0004c0009 a0001c0001 a0004c0004 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0004c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0004c0004t0001 a0004c0009t0001	a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0002g0134 others(2): Show a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0002g0134 a0004c0004t0001g0109 a0004c0009t0001g0100	5	216	0.0232	17	c.-2- others(34): Show c.-2-13016_-2-13000dupTTTTTTTTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BBOX1_chr11_27035815_27132809	27057063	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03130.hp1 HG03471.hp1 HG02559.hp1 HG03130.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0182 a0001c0002t0001g0187 a0001c0004t0001g0293 a0001c0002t0001g0182 a0001c0002t0001g0187 a0001c0004t0001g0293	3	318	0.0094	17	c.220 others(32): Show c.220-138_220-137insAAAAAAAAAAAAAAAAA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8			chr11	TogoVar
BBS2_chr16_56479385_56525024	56480350	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG04184.hp1 HG03654.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0135 a0001c0001t0001g0127 a0001c0001t0001g0135	2	398	0.0050	17	c.44 others(28): Show c.4410_*4411insTTTTTTTTTTTTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4034		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CACAAAAA others(10): Show CACAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01081.hp2 HG02965.hp1 others(2): Show HG00323.hp2 HG01081.hp2 HG02965.hp1 HG02976.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 others(2): Show a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0148 a0001c0001t0001g0218	5	398	0.0126	17	c.44 others(28): Show c.4408_*4409insTTTTTTTTTTTTTTTGT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CACACAAA others(10): Show CACACAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	398	0.0025	17	c.44 others(28): Show c.4408_*4409insTTTTTTTTTTTTTGTGT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480362	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	398	0.0025	17	c.43 others(28): Show c.4398_*4399insGTTTTTTTTTTTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4022		chr16	TogoVar
BBS4_chr15_72681207_72743473	72687124	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01099.hp1 HG01168.hp1 others(49): Show HG00408.hp1 HG01099.hp1 HG01168.hp1 HG01255.hp1 HG01515.hp1 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02717.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03491.hp1 HG03579.hp2 HG03831.hp1 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18948.hp2 NA18959.hp2 NA18965.hp2 NA18968.hp1 NA18970.hp1 NA18978.hp2 NA18981.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp1 NA19002.hp1 NA19011.hp1 NA19012.hp1 NA19057.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0002t0001 a0002c0002t0004	a0001c0001t0001g0171 a0001c0001t0001g0360 a0001c0001t0001g0361 others(49): Show a0001c0001t0001g0171 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0364 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0394 a0001c0001t0002g0395 a0001c0004t0001g0359 a0001c0004t0001g0363 a0001c0004t0001g0365 a0001c0004t0001g0374 a0001c0004t0001g0380 a0001c0004t0001g0381 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0004g0155	52	398	0.1307	17	c.24+ others(30): Show c.24+883_24+884insTTTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72688411	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00609.hp2 others(53): Show HG00140.hp2 HG00438.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG01516.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02074.hp2 HG02148.hp2 HG02165.hp1 HG02818.hp1 HG02922.hp1 HG03017.hp2 HG03195.hp2 HG03225.hp2 HG03492.hp1 HG03654.hp2 HG03831.hp2 HG03834.hp2 NA18945.hp1 NA18950.hp1 NA18955.hp2 NA18960.hp1 NA18961.hp2 NA18968.hp2 NA18975.hp1 NA18981.hp1 NA18985.hp1 NA18990.hp1 NA19005.hp2 NA19007.hp2 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19075.hp2 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19091.hp1 NA19240.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 others(53): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0277 a0001c0001t0001g0349 a0001c0001t0007g0021	56	398	0.1407	17	c.24+ others(32): Show c.24+2164_24+2180dupTTTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72702802	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01934.hp2 HG01952.hp1 others(25): Show HG00408.hp2 HG01934.hp2 HG01952.hp1 HG01993.hp1 HG02004.hp1 HG02074.hp2 HG02165.hp1 HG02273.hp2 HG02647.hp2 HG03834.hp2 HG04199.hp2 HG04228.hp1 NA18948.hp1 NA18950.hp1 NA18954.hp2 NA18964.hp2 NA18968.hp2 NA18971.hp2 NA18972.hp1 NA18979.hp1 NA18986.hp1 NA18989.hp1 NA19063.hp1 NA19068.hp2 NA19070.hp1 NA19086.hp1 NA19088.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(25): Show a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0151 a0002c0002t0001g0262	28	398	0.0704	17	c.77- others(32): Show c.77-6891_77-6875dupTTTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS9_chr7_33124564_33611069	33565839	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0183 a0004c0004t0001g0183	1	268	0.0037	17	c.252 others(38): Show c.2521+31663_2521+31664insTATATATATATATATAT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22			chr7	TogoVar
BBS9_chr7_33124564_33611069	33565844	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG04204.hp1 HG02572.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0221 a0001c0001t0001g0173 a0001c0001t0001g0221	2	268	0.0075	17	c.252 others(38): Show c.2521+31668_2521+31669insATATATATATATATATA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22			chr7	TogoVar
BBS9_chr7_33124564_33611069	33590459	G G	GTTTTTTT others(10): Show GTTTTTTTGTTTTTGTTT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	268	0.0037	17	c.252 others(38): Show c.2522-14399_2522-14398insGTTTTTGTTTTTTTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAR3_chr1_93556741_93686837	93681543	G G	GGCGCCCC others(10): Show GGCGCCCCGGGAGGAACA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0198 a0002c0003t0002g0198	1	202	0.0050	17	c.-12 others(30): Show c.-12+38_-12+54dupTGTTCCTCCCGGGGCGC	BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding	1/11			chr1	TogoVar
BCAS1_chr20_53938541_54075594	53954335	G G	GAGAGAGA others(10): Show GAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0019 a0019	a0019c0022 a0019c0022	a0019c0022t0012 a0019c0022t0012	a0019c0022t0012g0308 a0019c0022t0012g0308	1	364	0.0028	17	c.155 others(34): Show c.1552-641_1552-640insTCTCTCTCTCTCTCTCT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	11/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	54041908	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG01346.hp2 HG00639.hp2 HG01081.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0031 a0001c0001t0030 a0001c0001t0031	a0001c0001t0030g0249 a0001c0001t0030g0250 a0001c0001t0031g0255 a0001c0001t0030g0249 a0001c0001t0030g0250 a0001c0001t0031g0255	3	364	0.0082	17	c.143 others(36): Show c.143-12937_143-12936insTTTTTTTTTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	3/12			chr20	TogoVar
BCAS3_chr17_60672851_61397831	60700185	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp2 HG02818.hp2 others(10): Show HG02145.hp2 HG02615.hp2 HG02818.hp2 HG02897.hp1 HG02970.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03540.hp2 HG03579.hp2 NA18906.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0008 a0001c0002 a0001c0004 a0001c0008	a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0001c0008t0002	a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0065 others(10): Show a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0002g0001 a0001c0002t0002g0064 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0004t0002g0072 a0001c0008t0002g0062	13	74	0.1757	17	c.215 others(34): Show c.215-9034_215-9033insAAAAAAAAAAAAAAAAG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	4/23			chr17	TogoVar
BCAS3_chr17_60672851_61397831	60955386	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG02922.hp1 others(2): Show HG02486.hp2 HG02615.hp1 HG02922.hp1 HG03225.hp2 NA19240.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0005 a0004c0009 a0001c0002 a0002c0005 a0004c0009	a0001c0002t0001 a0002c0005t0001 a0004c0009t0001 a0001c0002t0001 a0002c0005t0001 a0004c0009t0001	a0001c0002t0001g0042 a0001c0002t0001g0056 a0002c0005t0001g0019 others(2): Show a0001c0002t0001g0042 a0001c0002t0001g0056 a0002c0005t0001g0019 a0002c0005t0001g0073 a0004c0009t0001g0055	5	74	0.0676	17	c.122 others(36): Show c.1221+8037_1221+8053dupTTTTTTTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61044465	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0053 a0001c0002t0002g0053	1	74	0.0135	17	c.202 others(36): Show c.2029+3574_2029+3575insAAAAAAAAAAATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar

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