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
BCAS3_chr17_60672851_61397831	61067271	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03540.hp1 HG02451.hp2 HG03540.hp1	a0002 a0003 a0002 a0003	a0002c0005 a0003c0001 a0002c0005 a0003c0001	a0002c0005t0002 a0003c0001t0001 a0002c0005t0002 a0003c0001t0001	a0002c0005t0002g0074 a0003c0001t0001g0007 a0002c0005t0002g0074 a0003c0001t0001g0007	2	74	0.0270	20	c.203 others(39): Show c.2030-7648_2030-7647insATATATATATATATATATAT	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(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0002 a0003c0001t0002	a0003c0001t0002g0029 a0003c0001t0002g0029	1	74	0.0135	20	c.203 others(39): Show c.2030-7623_2030-7604dupATATATATATATATATATAT	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(13): Show GTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02451.hp1 HG03209.hp2 HG00639.hp1 HG02451.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0001 a0001c0002t0002 a0002c0006t0002 a0001c0002t0001 a0001c0002t0002 a0002c0006t0002	a0001c0002t0001g0063 a0001c0002t0002g0068 a0002c0006t0002g0027 a0001c0002t0001g0063 a0001c0002t0002g0068 a0002c0006t0002g0027	3	74	0.0405	20	c.203 others(39): Show c.2030-7646_2030-7645insGTGTGTATATATATATATAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61070366	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0021 a0003c0001t0001g0021	1	74	0.0135	20	c.203 others(39): Show c.2030-4539_2030-4520dupATATATATATATATATATAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61089509	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0043 a0001c0004t0001g0043	1	74	0.0135	20	c.242 others(39): Show c.2425+4964_2425+4983dupTTTTTTTTTTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61191780	A A	AAAAAGAA others(13): Show AAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18906.hp1 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0046 a0001c0004t0001g0058 a0001c0004t0001g0046 a0001c0004t0001g0058	2	74	0.0270	20	c.242 others(43): Show c.2425+107226_2425+107245dupGAAAAGAAAAGAAAAGAAAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61322804	G G	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0038 a0002c0003t0001g0038	1	74	0.0135	20	c.242 others(41): Show c.2426-45504_2426-45503insCAGAGAGAGAGAGAGAGAGA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAT1_chr12_24805024_24954101	24824231	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02300.hp1 HG02647.hp2 others(4): Show HG00738.hp1 HG02300.hp1 HG02647.hp2 HG02723.hp1 NA18959.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0008 a0004c0007 a0001c0001 a0003c0008 a0004c0007	a0001c0001t0002 a0001c0001t0011 a0001c0001t0016 others(3): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0016 a0001c0001t0113 a0003c0008t0002 a0004c0007t0002	a0001c0001t0002g0177 a0001c0001t0002g0198 a0001c0001t0011g0039 others(4): Show a0001c0001t0002g0177 a0001c0001t0002g0198 a0001c0001t0011g0039 a0001c0001t0016g0072 a0001c0001t0113g0275 a0003c0008t0002g0076 a0004c0007t0002g0077	7	322	0.0217	20	c.111 others(39): Show c.1119+5572_1119+5591dupGGAAGGAAGGAAGGAAGGAA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	10/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24842480	G G	GAAGAACA others(13): Show GAAGAACACAGGTAAATAGCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG02109.hp1 others(1): Show HG01168.hp1 HG01169.hp2 HG02109.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0071 a0001c0001t0020 a0001c0001t0071	a0001c0001t0020g0087 a0001c0001t0020g0293 a0001c0001t0020g0294 others(1): Show a0001c0001t0020g0087 a0001c0001t0020g0293 a0001c0001t0020g0294 a0001c0001t0071g0088	4	322	0.0124	20	c.675 others(35): Show c.675-276_675-257dupGGCTATTTACCTGTGTTCTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	6/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24844894	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0272 a0001c0001t0033g0272	1	322	0.0031	20	c.675 others(37): Show c.675-2690_675-2671dupTTTTTTTTTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	6/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	322	0.0031	20	c.280 others(37): Show c.280-5670_280-5669insATATATATTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0133 a0001c0001t0133	a0001c0001t0133g0305 a0001c0001t0133g0305	1	322	0.0031	20	c.280 others(37): Show c.280-5670_280-5669insATATATATATATTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA20905.hp2 HG03831.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0084 a0001c0001t0001 a0001c0001t0084	a0001c0001t0001g0037 a0001c0001t0084g0038 a0001c0001t0001g0037 a0001c0001t0084g0038	2	322	0.0062	20	c.280 others(37): Show c.280-5689_280-5670dupATATATATATATATATATAT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24936712	A A	ATCTCTCT others(13): Show ATCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18747.hp1 HG03471.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0073 a0001c0001t0001 a0001c0001t0073	a0001c0001t0001g0246 a0001c0001t0073g0156 a0001c0001t0001g0246 a0001c0001t0073g0156	2	322	0.0062	20	c.6+1 others(35): Show c.6+12214_6+12215insGAGAGAGAGAGAGAGAGAGA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	1/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24951590	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 NA18970.hp2 NA19066.hp2 HG03710.hp2 NA18970.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0001 a0001c0001t0002 a0001c0001t0017	a0001c0001t0001g0291 a0001c0001t0002g0131 a0001c0001t0017g0180 a0001c0001t0001g0291 a0001c0001t0002g0131 a0001c0001t0017g0180	3	322	0.0093	20	c.-26 others(31): Show c.-2659_-2658insTTTTTTTTTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding		2490		chr12	TogoVar
BCAT2_chr19_48790064_48816029	48811494	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 NA18959.hp1 HG03486.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0158 a0001c0001t0001g0159	2	408	0.0049	20	c.-48 others(29): Show c.-488_-487insTTTTTTTTTTTTTTTTTTTT	BCAT2	ENSG00000105552.15	transcript	ENST00000316273.11	protein_coding		466		chr19	TogoVar
BCHE_chr3_165767904_165842423	165791948	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02572.hp2 others(9): Show HG02109.hp2 HG02258.hp1 HG02572.hp2 HG02647.hp2 HG02965.hp1 HG03471.hp1 HG03704.hp1 NA18966.hp2 NA18994.hp1 NA19077.hp2 NA19086.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0051 others(7): Show a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0051 a0001c0001t0001g0113 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0213 a0001c0001t0001g0229 a0002c0002t0002g0054 a0002c0002t0002g0055	12	304	0.0395	20	c.151 others(39): Show c.1518-5657_1518-5638dupATTTTATTTTATTTTATTTT	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BCHE_chr3_165767904_165842423	165791988	T T	TAAAATAA others(13): Show TAAAATAAAATAAAATAAAAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02109.hp1 HG02886.hp1 others(5): Show HG01358.hp2 HG02109.hp1 HG02886.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp1 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0012 a0001c0001t0002g0241 a0001c0001t0002g0242 others(3): Show a0001c0001t0002g0012 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0010g0249	8	304	0.0263	20	c.151 others(39): Show c.1518-5678_1518-5677insGTTTTATTTTATTTTATTTT	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BCKDHA_chr19_41392818_41430002	41412380	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp2 others(69): Show HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00544.hp2 HG01070.hp2 HG01071.hp2 HG01192.hp1 HG01256.hp2 HG01346.hp2 HG01358.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG02015.hp2 HG02027.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02602.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18906.hp2 NA18940.hp2 NA18944.hp1 NA18947.hp1 NA18950.hp1 NA18953.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18977.hp2 NA18984.hp2 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18999.hp2 NA19002.hp1 NA19009.hp2 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19077.hp1 NA19085.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0003 others(1): Show a0001c0001 a0001c0007 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 a0002c0003t0001 a0003c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(47): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0003g0153 a0001c0007t0001g0037 a0001c0007t0001g0238 a0002c0003t0001g0224 a0003c0005t0001g0036 a0003c0005t0001g0223	72	374	0.1925	20	c.375 others(37): Show c.375+1389_375+1390insTTTTTTTTTTTTTTTTTTTT	BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
BCKDHB_chr6_80101671_80351270	80168791	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02258.hp1 HG02615.hp1 others(5): Show HG01346.hp2 HG02258.hp1 HG02615.hp1 HG02970.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0015 a0001c0001t0030	a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 others(5): Show a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0003g0149 a0001c0001t0010g0137 a0001c0001t0015g0150 a0001c0001t0030g0155	8	294	0.0272	20	c.478 others(33): Show c.478-81_478-80insAAGGAAGGGAGGGAGGGAGG	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCKDHB_chr6_80101671_80351270	80168791	A A	AAGGAAGG others(13): Show AAGGAAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(120): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp2 HG01169.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18945.hp1 NA18946.hp2 NA18950.hp1 NA18953.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18967.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18982.hp2 NA18992.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19068.hp1 NA19077.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp2 NA19088.hp1 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0031 a0003c0004t0010	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(120): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0205 a0001c0001t0002g0023 a0001c0001t0002g0029 a0001c0001t0002g0040 a0001c0001t0002g0076 a0001c0001t0003g0093 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0005g0042 a0001c0001t0005g0045 a0001c0001t0006g0085 a0001c0001t0007g0077 a0001c0001t0009g0081 a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0001t0009g0102 a0001c0001t0010g0080 a0001c0001t0010g0087 a0001c0001t0010g0088 a0001c0001t0011g0092 a0001c0001t0011g0094 a0001c0001t0011g0132 a0001c0001t0011g0136 a0001c0001t0012g0129 a0001c0001t0012g0130 a0001c0001t0012g0131 a0001c0001t0014g0103 a0001c0001t0014g0104 a0001c0001t0014g0105 a0001c0001t0016g0019 a0001c0001t0016g0065 a0001c0001t0018g0133 a0001c0001t0018g0134 a0001c0001t0020g0059 a0001c0001t0021g0091 a0001c0001t0024g0113 a0001c0001t0025g0089 a0001c0001t0028g0055 a0001c0001t0031g0090 a0003c0004t0010g0062	123	294	0.4184	20	c.478 others(33): Show c.478-81_478-80insAAGGGAGGGAGGGAGGGAGG	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCKDHB_chr6_80101671_80351270	80168791	A A	AAGGGAGG others(13): Show AAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19240.hp1 HG02280.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0003t0003 a0001c0001t0009 a0001c0003t0003	a0001c0001t0009g0096 a0001c0003t0003g0095 a0001c0001t0009g0096 a0001c0003t0003g0095	2	294	0.0068	20	c.478 others(33): Show c.478-69_478-68insGAGGGAGGGAGGGAGGGAGG	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCKDHB_chr6_80101671_80351270	80342556	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0098 a0001c0001t0009g0098	1	294	0.0034	20	c.103 others(39): Show c.1039-1104_1039-1085dupAAAAAAAAAAAAAAAAAAAA	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCKDK_chr16_31103386_31117791	31117369	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00642.hp1 others(46): Show HG00408.hp1 HG00558.hp1 HG00642.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02040.hp1 HG02056.hp1 HG02083.hp2 HG02273.hp1 HG02572.hp1 HG02602.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG03139.hp1 HG03453.hp1 HG03669.hp1 HG03942.hp2 HG04228.hp1 HG04228.hp2 NA18939.hp2 NA18945.hp2 NA18981.hp1 NA18986.hp1 NA18995.hp2 NA19057.hp2 NA19088.hp2 NA20752.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0003c0004t0001 a0001c0001t0001 a0001c0001t0002 a0003c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0002g0002 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0002g0002 a0003c0004t0001g0002	49	300	0.1633	20	c.51 others(31): Show c.5104_*5105insAAATAAATAAATAAATAAAT	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		4579		chr16	TogoVar
BCKDK_chr16_31103386_31117791	31117398	A A	AAATAAAT others(13): Show AAATAAATAAATAAATAAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	300	0.0033	20	c.51 others(31): Show c.5133_*5134insAATAAATAAATAAATAAATT	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		4608		chr16	TogoVar
BCL11A_chr2_60452194_60558654	60507316	G G	GGGGAAGG others(13): Show GGGGAAGGGAAGGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02258.hp1 HG02486.hp1 others(1): Show HG01981.hp2 HG02258.hp1 HG02486.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0035 a0001c0001t0039 a0001c0001t0060 others(1): Show a0001c0001t0035 a0001c0001t0039 a0001c0001t0060 a0001c0002t0028	a0001c0001t0035g0080 a0001c0001t0039g0142 a0001c0001t0060g0216 others(1): Show a0001c0001t0035g0080 a0001c0001t0039g0142 a0001c0001t0060g0216 a0001c0002t0028g0044	4	262	0.0153	20	c.386 others(39): Show c.386-38503_386-38484dupTTCCCTTCCCTTCCCTTCCC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCL11B_chr14_99164287_99277197	99199683	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	350	0.0029	20	c.641 others(39): Show c.641-23489_641-23488insGCGCGCGCGCACACACACAC	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL11B_chr14_99164287_99277197	99199683	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0133 a0001c0002t0004g0133	1	350	0.0029	20	c.641 others(39): Show c.641-23489_641-23488insGCGCACACACACACACACAC	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL11B_chr14_99164287_99277197	99217385	G G	GACACACA others(13): Show GACACACACACACATACAGAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00438.hp2 others(50): Show HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00609.hp2 HG00639.hp2 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01168.hp1 HG02055.hp2 HG02080.hp2 HG02258.hp1 HG02258.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18948.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18981.hp1 NA19043.hp1 NA19063.hp1 NA19068.hp1 NA19070.hp1 NA19080.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0024 a0001c0001t0027 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0051 a0001c0001t0069 a0001c0001t0071 a0001c0001t0086 a0001c0001t0092 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0019 a0001c0002t0049 a0001c0002t0066 a0001c0002t0079 a0001c0003t0003 a0003c0007t0007	a0001c0001t0001g0186 a0001c0001t0001g0212 a0001c0001t0001g0214 others(50): Show a0001c0001t0001g0186 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0228 a0001c0001t0001g0243 a0001c0001t0001g0253 a0001c0001t0001g0276 a0001c0001t0002g0042 a0001c0001t0002g0056 a0001c0001t0002g0061 a0001c0001t0002g0093 a0001c0001t0003g0248 a0001c0001t0005g0066 a0001c0001t0005g0076 a0001c0001t0005g0116 a0001c0001t0008g0046 a0001c0001t0008g0054 a0001c0001t0008g0087 a0001c0001t0008g0090 a0001c0001t0009g0063 a0001c0001t0009g0064 a0001c0001t0009g0080 a0001c0001t0009g0123 a0001c0001t0011g0299 a0001c0001t0015g0079 a0001c0001t0016g0073 a0001c0001t0016g0089 a0001c0001t0024g0211 a0001c0001t0024g0226 a0001c0001t0027g0230 a0001c0001t0041g0105 a0001c0001t0042g0072 a0001c0001t0043g0120 a0001c0001t0051g0082 a0001c0001t0069g0221 a0001c0001t0071g0187 a0001c0001t0086g0342 a0001c0001t0092g0348 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0183 a0001c0002t0003g0254 a0001c0002t0003g0262 a0001c0002t0003g0264 a0001c0002t0005g0103 a0001c0002t0010g0333 a0001c0002t0019g0130 a0001c0002t0049g0057 a0001c0002t0066g0247 a0001c0002t0079g0292 a0001c0003t0003g0270 a0003c0007t0007g0283	53	350	0.1514	20	c.640 others(39): Show c.640+13959_640+13960insGTCTGTATGTGTGTGTGTGT	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL11B_chr14_99164287_99277197	99229031	G G	GATGGATG others(13): Show GATGGATGGATGGATGGATGC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02293.hp1 NA18978.hp1 others(1): Show HG01109.hp1 HG02293.hp1 NA18978.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0061 a0001c0002t0064 a0001c0001t0001 a0001c0001t0061 a0001c0002t0064	a0001c0001t0001g0193 a0001c0001t0001g0242 a0001c0001t0061g0196 others(1): Show a0001c0001t0001g0193 a0001c0001t0001g0242 a0001c0001t0061g0196 a0001c0002t0064g0269	4	350	0.0114	20	c.640 others(37): Show c.640+2313_640+2314insGCATCCATCCATCCATCCAT	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL11B_chr14_99164287_99277197	99229043	C C	CATGGATG others(13): Show CATGGATGGATGGATGGATGG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	350	0.0029	20	c.640 others(37): Show c.640+2282_640+2301dupCCATCCATCCATCCATCCAT	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL11B_chr14_99164287_99277197	99229055	G G	GATGCATG others(13): Show GATGCATGGATGGATGGATGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02071.hp1 NA18948.hp2 others(3): Show HG00423.hp2 HG02071.hp1 NA18948.hp2 NA19058.hp1 NA19066.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0021 a0001c0002t0057 a0001c0001t0001 a0001c0002t0021 a0001c0002t0057	a0001c0001t0001g0164 a0001c0001t0001g0224 a0001c0001t0001g0266 others(3): Show a0001c0001t0001g0164 a0001c0001t0001g0224 a0001c0001t0001g0266 a0001c0002t0021g0139 a0001c0002t0021g0140 a0001c0002t0057g0141	6	350	0.0171	20	c.640 others(37): Show c.640+2289_640+2290insTCATCCATCCATCCATGCAT	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL11B_chr14_99164287_99277197	99271298	G G	GCGCGCTG others(13): Show GCGCGCTGCCGCCGCTGCCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0342 a0001c0001t0086g0342	1	350	0.0029	20	c.-81 others(27): Show c.-81_-80insGCGGCAGCGGCGGCAGCGCG	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	1/4	81		chr14	TogoVar
BCL2L10_chr15_52104263_52117775	52111173	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp2 HG01257.hp1 others(10): Show HG00099.hp2 HG00741.hp2 HG01257.hp1 HG01943.hp1 HG01975.hp1 HG01993.hp2 HG02083.hp2 HG02723.hp2 HG03041.hp1 HG03669.hp2 HG04115.hp2 NA18963.hp1 NA19067.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0004 a0001c0001 a0002c0002 a0005c0004	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0005c0004t0003	a0001c0001t0001g0134 a0001c0001t0001g0135 a0002c0002t0001g0101 others(6): Show a0001c0001t0001g0134 a0001c0001t0001g0135 a0002c0002t0001g0101 a0002c0002t0001g0121 a0002c0002t0002g0017 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0006g0089 a0005c0004t0003g0098	13	458	0.0284	20	c.489 others(37): Show c.489+1045_489+1064dupGTGTGTGTGTGTGTGTGTGT	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding	1/1			chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 NA18522.hp2 HG01243.hp1 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0044 a0002c0002t0006g0044	2	458	0.0044	20	c.-43 others(31): Show c.-4377_-4376insAAAAAAAAAATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02486.hp1 others(7): Show HG02055.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02723.hp2 HG02809.hp1 HG03098.hp1 HG03098.hp2 HG03225.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0006 a0002c0002t0005 a0002c0002t0006	a0002c0002t0005g0052 a0002c0002t0006g0031 a0002c0002t0006g0043 others(4): Show a0002c0002t0005g0052 a0002c0002t0006g0031 a0002c0002t0006g0043 a0002c0002t0006g0088 a0002c0002t0006g0089 a0002c0002t0006g0090 a0002c0002t0006g0091	10	458	0.0218	20	c.-43 others(31): Show c.-4377_-4376insAAAAAAAAAAAATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(13): Show ATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02717.hp2 HG02895.hp1 others(8): Show HG02559.hp1 HG02717.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0006 others(2): Show a0002c0002t0001 a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 a0002c0002t0010	a0002c0002t0001g0109 a0002c0002t0005g0048 a0002c0002t0005g0049 others(6): Show a0002c0002t0001g0109 a0002c0002t0005g0048 a0002c0002t0005g0049 a0002c0002t0005g0053 a0002c0002t0005g0108 a0002c0002t0005g0115 a0002c0002t0006g0087 a0002c0002t0009g0119 a0002c0002t0010g0064	11	458	0.0240	20	c.-43 others(31): Show c.-4377_-4376insAAAAAAAAAAAAAATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATTT others(13): Show ATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02723.hp1 HG02258.hp2 HG02615.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0001 a0002c0002t0005	a0002c0002t0001g0118 a0002c0002t0005g0050 a0002c0002t0005g0110 a0002c0002t0001g0118 a0002c0002t0005g0050 a0002c0002t0005g0110	3	458	0.0066	20	c.-43 others(31): Show c.-4377_-4376insAAAAAAAAAAAAAAAATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L11_chr2_111115914_111173444	111147327	A A	ATCTCTCT others(13): Show ATCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA20300.hp1 HG01175.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0154 a0001c0001t0015g0155 a0001c0001t0015g0154 a0001c0001t0015g0155	2	398	0.0050	20	c.395 others(37): Show c.395-2716_395-2697dupTCTCTCTCTCTCTCTCTCTC	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
BCL2L11_chr2_111115914_111173444	111147346	T T	TCTCTCTC others(13): Show TCTCTCTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	398	0.0025	20	c.395 others(37): Show c.395-2697_395-2696insTCTCTCACACACACACACAC	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
BCL2L13_chr22_17633757_17735855	17715122	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0283 a0001c0002t0001g0283	1	306	0.0033	20	c.601 others(39): Show c.601-11525_601-11506dupATATATATATATATATATAT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17720154	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00735.hp1 others(32): Show HG00099.hp1 HG00438.hp1 HG00735.hp1 HG01081.hp2 HG01243.hp2 HG01361.hp2 HG01978.hp1 HG02040.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02300.hp1 HG02738.hp1 HG02895.hp1 HG03195.hp1 HG03471.hp1 HG03471.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 NA18747.hp2 NA18943.hp2 NA18952.hp1 NA18957.hp1 NA18963.hp1 NA19003.hp2 NA19007.hp2 NA19012.hp1 NA19030.hp2 NA19065.hp2 NA19079.hp1 NA19085.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(13): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0021 a0001c0001t0033 a0001c0001t0048 a0001c0001t0053 a0001c0001t0054 a0001c0001t0061 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0002t0042	a0001c0001t0002g0134 a0001c0001t0002g0162 a0001c0001t0002g0169 others(32): Show a0001c0001t0002g0134 a0001c0001t0002g0162 a0001c0001t0002g0169 a0001c0001t0002g0186 a0001c0001t0002g0245 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0132 a0001c0001t0004g0153 a0001c0001t0004g0155 a0001c0001t0004g0177 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0208 a0001c0001t0005g0142 a0001c0001t0007g0009 a0001c0001t0007g0118 a0001c0001t0007g0249 a0001c0001t0011g0113 a0001c0001t0011g0133 a0001c0001t0011g0167 a0001c0001t0011g0180 a0001c0001t0013g0164 a0001c0001t0013g0165 a0001c0001t0013g0184 a0001c0001t0021g0014 a0001c0001t0033g0137 a0001c0001t0048g0140 a0001c0001t0053g0139 a0001c0001t0054g0183 a0001c0001t0061g0016 a0001c0001t0066g0011 a0001c0001t0067g0170 a0001c0001t0068g0152 a0001c0002t0042g0005	35	306	0.1144	20	c.601 others(37): Show c.601-6514_601-6495dupTTTCTTTCTTTCTTTCTTTC	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L1_chr20_31659458_31727868	31667484	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG01069.hp2 others(23): Show HG00140.hp2 HG00280.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG01884.hp1 HG02148.hp1 HG02280.hp1 HG02572.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03453.hp2 HG03579.hp2 HG06807.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0017 others(22): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0150 a0001c0001t0001g0173 a0001c0001t0001g0174	26	186	0.1398	20	c.565 others(37): Show c.565-1418_565-1399dupACACACACACACACACACAC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31691520	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	186	0.0054	20	c.565 others(39): Show c.565-25454_565-25435dupATTTTATTTTATTTTATTTT	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2_chr18_63118346_63324769	63169248	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	264	0.0038	20	c.586 others(39): Show c.586-40509_586-40490dupGAAAGAAAGAAAGAAAGAAA	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL2_chr18_63118346_63324769	63169336	C C	CCTTCCTT others(13): Show CCTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG00642.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0044 a0001c0001t0002 a0001c0001t0044	a0001c0001t0002g0004 a0001c0001t0044g0109 a0001c0001t0002g0004 a0001c0001t0044g0109	2	264	0.0076	20	c.586 others(39): Show c.586-40578_586-40577insAAAGAAAGAAAGAAAGGAAG	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL2_chr18_63118346_63324769	63169336	C C	CCTTTCTT others(13): Show CCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01123.hp1 HG01167.hp2 others(11): Show HG00280.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01361.hp1 HG01433.hp1 HG01978.hp1 HG02109.hp2 HG06807.hp1 NA19056.hp2 NA19087.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0037 a0001c0002t0002 a0001c0002t0009 a0001c0004t0008	a0001c0001t0001g0103 a0001c0001t0001g0186 a0001c0001t0001g0220 others(11): Show a0001c0001t0001g0103 a0001c0001t0001g0186 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0002g0003 a0001c0001t0003g0213 a0001c0001t0003g0215 a0001c0001t0008g0008 a0001c0001t0037g0002 a0001c0002t0002g0066 a0001c0002t0002g0073 a0001c0002t0009g0074 a0001c0004t0008g0042	14	264	0.0530	20	c.586 others(39): Show c.586-40597_586-40578dupAAAGAAAGAAAGAAAGAAAG	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL2_chr18_63118346_63324769	63266637	T T	TCTCTCTC others(13): Show TCTCTCTCTCTCTCACACACA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0230 a0001c0001t0052g0230	1	264	0.0038	20	c.585 others(39): Show c.585+51444_585+51445insTGTGTGTGAGAGAGAGAGAG	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL3_chr19_44743708_44765044	44764167	G G	GAAGGAAG others(13): Show GAAGGAAGGAAGGAAGGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0104	1	344	0.0029	20	c.45 others(31): Show c.4552_*4553insAAGGAAGGAAGGAAGGAAGC	BCL3	ENSG00000069399.15	transcript	ENST00000164227.10	protein_coding		4124		chr19	TogoVar
BCL3_chr19_44743708_44765044	44764168	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGAAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0139 a0001c0001t0008g0139	1	344	0.0029	20	c.45 others(31): Show c.4553_*4554insAGGAAGGAAGGAAGGAAGCG	BCL3	ENSG00000069399.15	transcript	ENST00000164227.10	protein_coding		4125		chr19	TogoVar

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