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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
BRI3_chr7_98276686_98296545	98290181	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01257.hp2 HG01109.hp1 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	2	414	0.0048	-14	c.246 others(29): Show c.246-918_246-905delTTTTTTTTTTTTTT		BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
BRINP1_chr9_119161629_119374435	119175121	AAAAAAAA others(7): Show AAAAAAAAAAAAGAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG00639.hp2 HG00735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0181 a0001c0003t0001g0182	2	236	0.0085	-14	c.114 others(33): Show c.1146-6911_1146-6898delGTCTTTTTTTTTTT		BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	7/7						chr9	TogoVar
BRINP1_chr9_119161629_119374435	119219646	TGAGAGAG others(7): Show TGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02683.hp2 HG03041.hp1 others(5): Show HG01891.hp2 HG02683.hp2 HG03041.hp1 HG03209.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008	a0001c0001t0001g0200 a0001c0001t0003g0008 a0001c0003t0001g0094 others(5): Show a0001c0001t0001g0200 a0001c0001t0003g0008 a0001c0003t0001g0094 a0001c0003t0001g0151 a0001c0003t0001g0186 a0001c0003t0001g0190 a0001c0003t0002g0226 a0001c0003t0008g0185	8	236	0.0339	-14	c.686 others(31): Show c.686-5505_686-5492delTCTCTCTCTCTCTC		BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	5/7						chr9	TogoVar
BRINP1_chr9_119161629_119374435	119269224	TCACTATT others(7): Show TCACTATTATTTTTA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0177 a0001c0004t0001g0177	1	236	0.0042	-14	c.219 others(33): Show c.219-20088_219-20075delTAAAAATAATAGTG		BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	2/7						chr9	TogoVar
BRINP1_chr9_119161629_119374435	119366503	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02486.hp1 HG02809.hp2 others(2): Show HG01261.hp2 HG02486.hp1 HG02809.hp2 HG03225.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0001c0001t0001 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0078 a0001c0001t0001g0158 a0001c0001t0001g0195 others(2): Show a0001c0001t0001g0078 a0001c0001t0001g0158 a0001c0001t0001g0195 a0001c0004t0001g0188 a0001c0005t0001g0192	5	236	0.0212	-14	c.-51 others(31): Show c.-51+2539_-51+2552delACACACACACACAC		BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	1/7						chr9	TogoVar
BRINP1_chr9_119161629_119374435	119373722	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02622.hp2 HG04184.hp1 HG02109.hp2 HG02622.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0001t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0176 a0001c0003t0001g0193 a0001c0005t0001g0210 a0001c0001t0001g0176 a0001c0003t0001g0193 a0001c0005t0001g0210	3	236	0.0127	-14	c.-47 others(25): Show c.-4731_-4718delTTTTTTTTTTTTTT		BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding					4288		chr9	TogoVar
BRINP3_chr1_190092658_190482864	190114526	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	240	0.0042	-14	c.118 others(35): Show c.1185-15406_1185-15393delCACACACACACACA		BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	7/7						chr1	TogoVar
BRINP3_chr1_190092658_190482864	190203750	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG01167.hp2 others(23): Show HG00323.hp1 HG00639.hp1 HG01167.hp2 HG02055.hp2 HG02083.hp2 HG02273.hp1 HG02280.hp1 HG02615.hp2 HG02630.hp2 HG02735.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03209.hp2 HG03491.hp2 NA18522.hp2 NA18747.hp1 NA18963.hp2 NA18979.hp1 NA18981.hp2 NA18993.hp1 NA19000.hp2 NA19007.hp2 NA19009.hp1 NA19085.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0019 others(23): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0160 a0001c0001t0001g0174 a0001c0001t0001g0185 a0001c0001t0002g0210 a0001c0001t0002g0214 a0001c0001t0002g0221 a0001c0001t0003g0004 a0001c0001t0004g0001 a0001c0001t0008g0166	26	240	0.1083	-14	c.961 others(33): Show c.961+22318_961+22331delATATATATATATAT		BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	6/7						chr1	TogoVar
BRINP3_chr1_190092658_190482864	190240872	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp1 HG02886.hp2 others(1): Show HG02630.hp1 HG02723.hp1 HG02886.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0002g0209 others(1): Show a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0002g0209 a0001c0001t0007g0198	4	240	0.0167	-14	c.619 others(31): Show c.619-6409_619-6396delTTTTTTTTTTTTTT		BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	4/7						chr1	TogoVar
BRINP3_chr1_190092658_190482864	190301204	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02976.hp1 HG03209.hp1 others(2): Show HG02572.hp2 HG02976.hp1 HG03209.hp1 HG03540.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0151 a0001c0001t0001g0154 others(2): Show a0001c0001t0001g0094 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0200	5	240	0.0208	-14	c.237 others(33): Show c.237-19468_237-19455delATATATATATATAT		BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7						chr1	TogoVar
BRINP3_chr1_190092658_190482864	190312036	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02630.hp1 HG01109.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0192 a0001c0001t0002g0209 a0001c0001t0001g0192 a0001c0001t0002g0209	2	240	0.0083	-14	c.237 others(33): Show c.237-30300_237-30287delATATATATATATAT		BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7						chr1	TogoVar
BRINP3_chr1_190092658_190482864	190329489	GACCTCTA others(7): Show GACCTCTACACAGCT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	240	0.0042	-14	c.237 others(33): Show c.237-47753_237-47740delAGCTGTGTAGAGGT		BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7						chr1	TogoVar
BRINP3_chr1_190092658_190482864	190453203	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	240	0.0042	-14	c.236 others(31): Show c.236+1438_236+1451delAAAAAAAAAAAAAA		BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7						chr1	TogoVar
BRIP1_chr17_61674139_61868528	61765413	ATATATAT others(7): Show ATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0246 a0001c0001t0008g0246	1	266	0.0038	-14	c.209 others(35): Show c.2097+10974_2097+10987delAAAATATATATATA		BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19						chr17	TogoVar
BRIP1_chr17_61674139_61868528	61765419	ATATATTT others(7): Show ATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0177 a0001c0001t0004g0177	1	266	0.0038	-14	c.209 others(35): Show c.2097+10968_2097+10981delAAAAAAAAAATATA		BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19						chr17	TogoVar
BRIP1_chr17_61674139_61868528	61772157	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01069.hp2 HG01071.hp1 others(10): Show HG00597.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01261.hp1 HG02027.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG03130.hp2 HG03710.hp2 NA19066.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0006 a0001c0001t0049 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0049 a0002c0002t0003 a0002c0002t0007 a0002c0002t0010	a0001c0001t0004g0198 a0001c0001t0004g0228 a0001c0001t0004g0230 others(10): Show a0001c0001t0004g0198 a0001c0001t0004g0228 a0001c0001t0004g0230 a0001c0001t0006g0153 a0001c0001t0006g0160 a0001c0001t0049g0168 a0002c0002t0003g0199 a0002c0002t0003g0200 a0002c0002t0003g0203 a0002c0002t0003g0204 a0002c0002t0007g0197 a0002c0002t0007g0223 a0002c0002t0010g0042	13	266	0.0489	-14	c.209 others(33): Show c.2097+4230_2097+4243delTATATATATATATA		BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19						chr17	TogoVar
BRIP1_chr17_61674139_61868528	61772196	TATATATA others(7): Show TATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03017.hp2 HG03209.hp2 others(4): Show HG02257.hp2 HG03017.hp2 HG03209.hp2 HG03704.hp1 NA18952.hp1 NA19079.hp1 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0006 a0001c0001 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0017 a0002c0003t0005 others(2): Show a0001c0001t0001 a0001c0001t0017 a0002c0003t0005 a0002c0003t0020 a0003c0006t0005	a0001c0001t0001g0053 a0001c0001t0017g0144 a0002c0003t0005g0044 others(4): Show a0001c0001t0001g0053 a0001c0001t0017g0144 a0002c0003t0005g0044 a0002c0003t0005g0050 a0002c0003t0005g0060 a0002c0003t0020g0079 a0003c0006t0005g0076	7	266	0.0263	-14	c.209 others(33): Show c.2097+4191_2097+4204delTTATATATATATAT		BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19						chr17	TogoVar
BRIP1_chr17_61674139_61868528	61804410	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0138 a0001c0001t0038g0138	1	266	0.0038	-14	c.919 others(31): Show c.919-2950_919-2937delCACACACACACACA		BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	7/19						chr17	TogoVar
BRIP1_chr17_61674139_61868528	61804954	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA19058.hp2 NA19081.hp1 HG00735.hp2 NA19058.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0012 a0001c0001t0025g0068 a0001c0001t0025g0107 a0001c0001t0001g0012 a0001c0001t0025g0068 a0001c0001t0025g0107	3	266	0.0113	-14	c.919 others(31): Show c.919-3494_919-3481delCACACACACACACA		BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	7/19						chr17	TogoVar
BRIP1_chr17_61674139_61868528	61846661	ACAGGCGT others(7): Show ACAGGCGTGAGCCAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02109.hp1 HG02145.hp1 others(25): Show HG00639.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 others(11): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0002c0002t0016 a0002c0003t0003 a0002c0003t0022 a0002c0003t0029 a0002c0003t0046 a0002c0003t0062 a0002c0003t0063	a0001c0001t0006g0252 a0001c0001t0006g0260 a0001c0001t0008g0241 others(25): Show a0001c0001t0006g0252 a0001c0001t0006g0260 a0001c0001t0008g0241 a0001c0001t0008g0244 a0001c0001t0008g0245 a0001c0001t0008g0246 a0001c0001t0008g0247 a0001c0001t0008g0254 a0001c0001t0015g0251 a0001c0001t0015g0255 a0001c0001t0015g0261 a0001c0001t0050g0265 a0001c0001t0051g0250 a0001c0001t0052g0256 a0001c0001t0053g0262 a0002c0002t0016g0238 a0002c0002t0016g0239 a0002c0003t0003g0257 a0002c0003t0003g0258 a0002c0003t0003g0259 a0002c0003t0003g0263 a0002c0003t0003g0264 a0002c0003t0022g0242 a0002c0003t0022g0243 a0002c0003t0029g0253 a0002c0003t0046g0147 a0002c0003t0062g0240 a0002c0003t0063g0249	28	266	0.1053	-14	c.627 others(29): Show c.627+426_627+439delGTGGCTCACGCCTG		BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	6/19						chr17	TogoVar
BRMS1L_chr14_35821338_35876963	35873189	GTATATAT others(7): Show GTATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	374	0.0027	-14	c.27 others(25): Show c.2713_*2726delTATATATATATATA		BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding					1227		chr14	TogoVar
BRMS1_chr11_66332339_66350104	66347679	CCCGCCCG others(7): Show CCCGCCCGCCGCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	424	0.0024	-14	c.-27 others(25): Show c.-2729_-2716delCGGGCGGCGGGCGG		BRMS1	ENSG00000174744.14	transcript	ENST00000359957.8	protein_coding					2576		chr11	TogoVar
BRSK1_chr19_55278997_55317562	55282337	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	338	0.0030	-14	c.-21 others(25): Show c.-2105_-2092delAAAAAAAAAAAAAA		BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding					1659		chr19	TogoVar
BRSK1_chr19_55278997_55317562	55304073	CCACGGGT others(7): Show CCACGGGTCTGTCCT	C C	frameshift_variant frameshift_variant	HIGH	HG01169.hp1 HG01169.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0111 a0003c0008t0001g0111	1	338	0.0030	-14	c.131 others(23): Show c.1312_1325delACGGGTCTGTCCTC	p.Thr others(5): Show p.Thr438fs	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	13/19	1758/3277	1312/2337	438/778		INFO_REALIGN_3_PRIME	chr19	TogoVar
BRSK1_chr19_55278997_55317562	55312533	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0115 a0001c0002t0020g0115	1	338	0.0030	-14	c.43 others(23): Show c.438_*451delAAAAAAAAAAAAAA		BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	19/19				438	INFO_REALIGN_3_PRIME	chr19	TogoVar
BRWD1_chr21_39180482_39318632	39207471	CACACACA others(7): Show CACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	338	0.0030	-14	c.419 others(33): Show c.4198-1211_4198-1198delTTGTGTGTGTGTGT		BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	36/40						chr21	TogoVar
BRWD1_chr21_39180482_39318632	39217022	TATATATA others(7): Show TATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02735.hp2 NA18612.hp1 others(1): Show HG01255.hp1 HG02735.hp2 NA18612.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0064 a0001c0001t0003 a0001c0001t0004 a0001c0001t0064	a0001c0001t0003g0322 a0001c0001t0004g0268 a0001c0001t0004g0286 others(1): Show a0001c0001t0003g0322 a0001c0001t0004g0268 a0001c0001t0004g0286 a0001c0001t0064g0258	4	338	0.0118	-14	c.365 others(33): Show c.3659+1116_3659+1129delTTATATATATATAT		BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40						chr21	TogoVar
BRWD1_chr21_39180482_39318632	39241473	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03130.hp1 NA18953.hp2 others(4): Show HG02717.hp1 HG03130.hp1 NA18953.hp2 NA18963.hp1 NA18982.hp2 NA18992.hp1 NA19067.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0004c0003	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0003c0004t0019 a0004c0003t0058	a0001c0001t0002g0053 a0001c0001t0003g0318 a0002c0002t0001g0195 others(4): Show a0001c0001t0002g0053 a0001c0001t0003g0318 a0002c0002t0001g0195 a0002c0002t0001g0240 a0003c0004t0019g0076 a0003c0004t0019g0077 a0004c0003t0058g0147	7	338	0.0207	-14	c.248 others(33): Show c.2482-2914_2482-2901delTTTTTTTTTTTTTT		BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	21/40						chr21	TogoVar
BRWD1_chr21_39180482_39318632	39248641	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(67): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00673.hp1 HG00733.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01515.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG03041.hp1 HG03516.hp2 HG03654.hp2 HG03831.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp2 NA18747.hp2 NA18943.hp2 NA18953.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18990.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp1 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19064.hp1 NA19066.hp1 NA19081.hp2 NA19087.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0008 a0001c0020 others(2): Show a0001c0001 a0001c0008 a0001c0020 a0002c0002 a0009c0022	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0045 a0001c0001t0046 a0001c0001t0061 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0068 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0008t0003 a0001c0020t0003 a0002c0002t0001 a0009c0022t0004	a0001c0001t0002g0042 a0001c0001t0003g0270 a0001c0001t0003g0291 others(67): Show a0001c0001t0002g0042 a0001c0001t0003g0270 a0001c0001t0003g0291 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0301 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0320 a0001c0001t0003g0322 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0004g0257 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0279 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0004g0292 a0001c0001t0009g0003 a0001c0001t0015g0252 a0001c0001t0015g0253 a0001c0001t0015g0254 a0001c0001t0015g0255 a0001c0001t0016g0335 a0001c0001t0045g0188 a0001c0001t0046g0171 a0001c0001t0061g0265 a0001c0001t0064g0258 a0001c0001t0065g0259 a0001c0001t0066g0310 a0001c0001t0068g0309 a0001c0001t0071g0321 a0001c0001t0073g0323 a0001c0001t0074g0338 a0001c0001t0075g0271 a0001c0008t0003g0316 a0001c0008t0003g0319 a0001c0020t0003g0326 a0002c0002t0001g0212 a0009c0022t0004g0256	70	338	0.2071	-14	c.235 others(31): Show c.2350-823_2350-810delTTTTTTTTTTTTTT		BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	20/40						chr21	TogoVar
BRWD1_chr21_39180482_39318632	39249910	AGGGGGGT others(7): Show AGGGGGGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0272 a0001c0001t0004g0272	1	338	0.0030	-14	c.234 others(31): Show c.2349+872_2349+885delCACACACACCCCCC		BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	20/40						chr21	TogoVar
BRWD1_chr21_39180482_39318632	39249913	GGGGTGTG others(7): Show GGGGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02698.hp2 others(2): Show HG01070.hp1 HG01071.hp1 HG02698.hp2 HG02895.hp1 HG03471.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0004 a0001c0001t0018 a0004c0003t0029 others(1): Show a0001c0001t0004 a0001c0001t0018 a0004c0003t0029 a0004c0003t0040	a0001c0001t0004g0275 a0001c0001t0018g0044 a0001c0001t0018g0052 others(2): Show a0001c0001t0004g0275 a0001c0001t0018g0044 a0001c0001t0018g0052 a0004c0003t0029g0015 a0004c0003t0040g0074	5	338	0.0148	-14	c.234 others(31): Show c.2349+869_2349+882delACACACACACACCC		BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	20/40						chr21	TogoVar
BRWD3_chrX_80664503_80814877	80701545	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19043.hp1 HG02257.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0107 a0001c0001t0071 a0001c0001t0107	a0001c0001t0071g0054 a0001c0001t0107g0165 a0001c0001t0071g0054 a0001c0001t0107g0165	2	265	0.0076	-14	c.283 others(33): Show c.2836-1495_2836-1482delTTTTTTTTTTTTTT		BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	24/40						chrX	TogoVar
BRWD3_chrX_80664503_80814877	80793160	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00558.hp1 others(40): Show HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00639.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01884.hp1 HG01891.hp2 HG01981.hp2 HG02080.hp2 HG02109.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02630.hp1 HG02897.hp2 HG03130.hp1 HG03225.hp1 HG03453.hp2 HG03540.hp1 HG03927.hp1 HG06807.hp2 NA18939.hp1 NA18945.hp1 NA18947.hp1 NA18949.hp2 NA18954.hp2 NA18961.hp1 NA18967.hp1 NA18973.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18992.hp1 NA19004.hp1 NA19030.hp1 NA19062.hp1 NA19065.hp2 NA19081.hp2 NA19084.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 others(21): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0018 a0001c0001t0021 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0042 a0001c0001t0045 a0001c0001t0048 a0001c0001t0063 a0001c0001t0099 a0001c0001t0104 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0147 a0001c0001t0152 a0001c0001t0154 a0001c0007t0018	a0001c0001t0007g0060 a0001c0001t0007g0066 a0001c0001t0007g0067 others(40): Show a0001c0001t0007g0060 a0001c0001t0007g0066 a0001c0001t0007g0067 a0001c0001t0007g0068 a0001c0001t0007g0069 a0001c0001t0007g0070 a0001c0001t0008g0123 a0001c0001t0008g0124 a0001c0001t0008g0125 a0001c0001t0008g0126 a0001c0001t0008g0127 a0001c0001t0010g0078 a0001c0001t0010g0083 a0001c0001t0010g0089 a0001c0001t0010g0090 a0001c0001t0018g0110 a0001c0001t0021g0141 a0001c0001t0021g0142 a0001c0001t0021g0143 a0001c0001t0026g0023 a0001c0001t0026g0024 a0001c0001t0027g0031 a0001c0001t0027g0033 a0001c0001t0029g0046 a0001c0001t0029g0047 a0001c0001t0030g0051 a0001c0001t0030g0052 a0001c0001t0031g0092 a0001c0001t0031g0093 a0001c0001t0042g0001 a0001c0001t0045g0004 a0001c0001t0048g0007 a0001c0001t0063g0032 a0001c0001t0099g0152 a0001c0001t0104g0162 a0001c0001t0111g0169 a0001c0001t0112g0170 a0001c0001t0113g0171 a0001c0001t0114g0172 a0001c0001t0147g0250 a0001c0001t0152g0255 a0001c0001t0154g0257 a0001c0007t0018g0109	43	265	0.1623	-14	c.331 others(29): Show c.331+448_331+461delTTTTTTTTTTTTTT		BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	5/40						chrX	TogoVar
BRWD3_chrX_80664503_80814877	80809759	AAGAGAGA others(7): Show AAGAGAGAGAGAGAG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0109 a0006c0006t0109	a0006c0006t0109g0167 a0006c0006t0109g0167	1	265	0.0038	-14	c.-30 others(23): Show c.-302_-289delCTCTCTCTCTCTCT		BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	1/41				289		chrX	TogoVar
BSG_chr19_567596_588493	581190	TCCCGGAC others(7): Show TCCCGGACTCAGCCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00558.hp1 others(80): Show HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01175.hp1 HG01255.hp1 HG01358.hp2 HG01517.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp2 HG03130.hp1 HG03239.hp2 HG03453.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04204.hp2 NA18747.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18964.hp2 NA18982.hp1 NA18983.hp1 NA18990.hp2 NA18994.hp2 NA18998.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19043.hp2 NA19060.hp1 NA19065.hp2 NA19066.hp1 NA19079.hp1 NA19080.hp2 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20905.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0009	a0001c0002 a0001c0010 a0001c0013 others(5): Show a0001c0002 a0001c0010 a0001c0013 a0001c0018 a0002c0005 a0005c0007 a0007c0014 a0009c0012	a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 others(9): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0002t0016 a0001c0002t0018 a0001c0010t0001 a0001c0013t0001 a0001c0018t0001 a0002c0005t0001 a0005c0007t0001 a0007c0014t0001 a0009c0012t0001	a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0010 others(47): Show a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0010 a0001c0002t0001g0016 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0032 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0094 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0123 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0150 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0173 a0001c0002t0002g0108 a0001c0002t0012g0001 a0001c0002t0016g0122 a0001c0002t0018g0001 a0001c0010t0001g0070 a0001c0010t0001g0084 a0001c0013t0001g0001 a0001c0018t0001g0133 a0002c0005t0001g0001 a0002c0005t0001g0116 a0005c0007t0001g0010 a0007c0014t0001g0119 a0009c0012t0001g0148	83	306	0.2712	-14	c.793 others(29): Show c.793-124_793-111delCCCGGACTCAGCCC		BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	5/8						chr19	TogoVar
BSG_chr19_567596_588493	581236	TCCCGGAC others(7): Show TCCCGGACTCAGCCC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02486.hp2 HG02630.hp1 others(3): Show HG01978.hp1 HG02486.hp2 HG02630.hp1 HG02818.hp1 HG02965.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0104 a0001c0002t0001g0140 a0001c0002t0001g0012 a0001c0002t0001g0104 a0001c0002t0001g0140	6	306	0.0196	-14	c.793 others(27): Show c.793-78_793-65delCCCGGACTCAGCCC		BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	5/8						chr19	TogoVar
BSN_chr3_49549477_49676549	49605493	ATATATAA others(7): Show ATATATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0014 a0003c0023t0014	a0003c0023t0014g0157 a0003c0023t0014g0157	1	186	0.0054	-14	c.225 others(33): Show c.225-19467_225-19454delTATATAATATATAT		BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49617283	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02922.hp1 HG02970.hp1 others(1): Show HG02572.hp2 HG02922.hp1 HG02970.hp1 HG03098.hp2	a0001 a0007 a0022 a0001 a0007 a0022	a0001c0001 a0007c0013 a0022c0024 a0001c0001 a0007c0013 a0022c0024	a0001c0001t0002 a0007c0013t0013 a0022c0024t0007 a0001c0001t0002 a0007c0013t0013 a0022c0024t0007	a0001c0001t0002g0131 a0007c0013t0013g0050 a0007c0013t0013g0051 others(1): Show a0001c0001t0002g0131 a0007c0013t0013g0050 a0007c0013t0013g0051 a0022c0024t0007g0008	4	186	0.0215	-14	c.225 others(31): Show c.225-7669_225-7656delTATATATATATATA		BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr3	TogoVar
BSPH1_chr19_47963046_47997170	47963898	TTTTCTTT others(7): Show TTTTCTTTTCTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00741.hp2 HG01070.hp2 others(22): Show HG00099.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG02040.hp1 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG03139.hp1 HG03139.hp2 HG03710.hp1 HG04228.hp1 NA18939.hp1 NA18948.hp1 NA18948.hp2 NA18975.hp2 NA18983.hp1 NA18992.hp2 NA19000.hp1 NA19010.hp1 NA19079.hp2 NA19082.hp1 NA19085.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0001g0098 others(22): Show a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0124 a0001c0001t0001g0166 a0001c0001t0001g0331 a0001c0001t0001g0403 a0001c0001t0002g0147 a0001c0001t0002g0157 a0001c0001t0002g0209 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0318 a0001c0001t0002g0320 a0001c0001t0002g0353 a0002c0002t0001g0024 a0002c0002t0001g0033 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0067 a0003c0004t0001g0018	25	444	0.0563	-14	c.43 others(25): Show c.4300_*4313delGAAAAGAAAAGAAA		BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding					4147		chr19	TogoVar
BSPRY_chr9_113344541_113376222	113357886	CTATATAT others(7): Show CTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02148.hp2 HG02486.hp1 others(2): Show HG02145.hp2 HG02148.hp2 HG02486.hp1 HG02723.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0046 a0001c0001t0002g0104 a0001c0001t0002g0321 others(1): Show a0001c0001t0001g0046 a0001c0001t0002g0104 a0001c0001t0002g0321 a0001c0001t0006g0145	5	448	0.0112	-14	c.301 others(31): Show c.301-2577_301-2564delATATATATATATAT		BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
BSPRY_chr9_113344541_113376222	113362174	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02735.hp1 HG03654.hp1 others(2): Show HG00642.hp2 HG02735.hp1 HG03654.hp1 HG03654.hp2 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0042 a0001c0002t0002g0042 a0001c0002t0002g0044 others(1): Show a0001c0002t0001g0042 a0001c0002t0002g0042 a0001c0002t0002g0044 a0001c0002t0002g0176	5	448	0.0112	-14	c.532 others(29): Show c.532-168_532-155delGTGTGTGTGTGTGT		BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
BSPRY_chr9_113344541_113376222	113363876	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02622.hp1 HG02647.hp1 others(8): Show HG02257.hp1 HG02622.hp1 HG02647.hp1 HG03130.hp2 HG03209.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG04204.hp2 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0002t0004 others(5): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0014 a0001c0002t0019 a0001c0002t0026	a0001c0001t0002g0319 a0001c0002t0002g0069 a0001c0002t0004g0207 others(6): Show a0001c0001t0002g0319 a0001c0002t0002g0069 a0001c0002t0004g0207 a0001c0002t0006g0195 a0001c0002t0009g0208 a0001c0002t0009g0210 a0001c0002t0014g0014 a0001c0002t0019g0014 a0001c0002t0026g0198	11	448	0.0246	-14	c.557 others(31): Show c.557+1500_557+1513delAAAAAAAAAAAAAA		BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
BST2_chr19_17397939_17410630	17399017	GGGACACT others(7): Show GGGACACTCAGCAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02630.hp2 HG02976.hp1 others(3): Show HG02451.hp1 HG02630.hp2 HG02976.hp1 HG03579.hp1 NA18906.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006	a0001c0001t0004g0013 a0001c0001t0005g0008 a0001c0001t0006g0014 a0001c0001t0004g0013 a0001c0001t0005g0008 a0001c0001t0006g0014	6	412	0.0146	-14	c.43 others(25): Show c.4311_*4324delACTGCTGAGTGTCC		BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding					3921		chr19	TogoVar
BST2_chr19_17397939_17410630	17410496	TCATATAT others(7): Show TCATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02630.hp1 HG02698.hp2 others(6): Show HG00438.hp2 HG02630.hp1 HG02698.hp2 HG03491.hp2 HG03492.hp1 HG03942.hp1 HG04115.hp1 HG04228.hp1 HG04228.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0004 a0003c0005t0004 a0001c0001t0004 a0003c0005t0004	a0001c0001t0004g0006 a0003c0005t0004g0020 a0001c0001t0004g0006 a0003c0005t0004g0020	9	412	0.0218	-14	c.-49 others(25): Show c.-4935_-4922delTATATATATATATG		BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding					4867		chr19	TogoVar
BTAF1_chr10_91918770_92036437	91959732	GTGTGTGT others(7): Show GTGTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0286	1	330	0.0030	-14	c.991 others(27): Show c.991-51_991-38delGTGTGTGTATATAT		BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	9/37					INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	91959740	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03540.hp1 HG02895.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0103 a0001c0001t0001g0104	2	330	0.0061	-14	c.991 others(27): Show c.991-27_991-14delATATATATATATAT		BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	9/37					INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	91991791	GTGTGTGT others(7): Show GTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00609.hp2 others(60): Show HG00423.hp2 HG00438.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG01069.hp1 HG01099.hp1 HG01123.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01433.hp2 HG01515.hp1 HG01891.hp1 HG01943.hp2 HG01978.hp1 HG02004.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02559.hp1 HG02630.hp2 HG02683.hp2 HG02735.hp1 HG03490.hp1 HG03491.hp1 HG04184.hp2 NA18942.hp1 NA18944.hp1 NA18946.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18962.hp2 NA18965.hp2 NA18968.hp2 NA18969.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18981.hp1 NA18983.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp2 NA18999.hp2 NA19001.hp1 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19077.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA20300.hp2	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0001c0013 a0006c0011 others(1): Show a0001c0001 a0001c0013 a0006c0011 a0008c0007	a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(3): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0013t0002 a0006c0011t0002 a0008c0007t0002	a0001c0001t0002g0165 a0001c0001t0002g0171 a0001c0001t0002g0173 others(60): Show a0001c0001t0002g0165 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0232 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0008g0233 a0001c0001t0008g0234 a0001c0001t0011g0242 a0001c0013t0002g0091 a0006c0011t0002g0304 a0008c0007t0002g0288	63	330	0.1909	-14	c.285 others(31): Show c.2855-326_2855-313delGTGTGTATATATAT		BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37					INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92036291	AACAGAAG others(7): Show AACAGAAGAGTAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	330	0.0030	-14	c.73 others(25): Show c.7359_*7372delACAGAAGAGTAAAC		BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding					4855		chr10	TogoVar
BTBD10_chr11_13383008_13468222	13400539	GCTGCACC others(7): Show GCTGCACCCACTGTC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03471.hp2 NA20300.hp2 HG02109.hp2 HG03471.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0049	3	356	0.0084	-14	c.111 others(33): Show c.1117+2615_1117+2628delGACAGTGGGTGCAG		BTBD10	ENSG00000148925.11	transcript	ENST00000278174.10	protein_coding	8/8						chr11	TogoVar
BTBD17_chr17_74351416_74366868	74365064	TACACACA others(7): Show TACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	444	0.0023	-14	c.-32 others(25): Show c.-3259_-3246delGTGTGTGTGTGTGT		BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding					3197		chr17	TogoVar

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