Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BBS9_chr7_33124564_33611069	33386301	AATGTAGA others(7): Show AATGTAGACTACGAT	A A	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	268	0.0037	-14	c.196 others(33): Show c.1963-1686_1963-1673delAGACTACGATATGT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33492811	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0023 a0002c0002t0003g0023	1	268	0.0037	-14	c.211 others(35): Show c.2116-12621_2116-12608delGTGTGTGTGTGTGT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33542788	TGTACACA others(7): Show TGTACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03195.hp2 HG01496.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0154 a0001c0001t0008g0233 a0001c0001t0001g0154 a0001c0001t0008g0233	2	268	0.0075	-14	c.252 others(33): Show c.2521+8613_2521+8626delGTACACACACACAC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22			chr7	TogoVar
BBS9_chr7_33124564_33611069	33542790	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00609.hp1 others(64): Show HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00642.hp2 HG00738.hp2 HG01074.hp2 HG01106.hp1 HG01168.hp2 HG01243.hp2 HG01517.hp1 HG01975.hp1 HG02015.hp2 HG02074.hp2 HG02129.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02293.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02683.hp2 HG02723.hp2 HG02738.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03017.hp2 HG03098.hp1 HG03239.hp1 HG03471.hp1 HG03491.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18980.hp1 NA18993.hp2 NA18995.hp2 NA19000.hp2 NA19001.hp1 NA19005.hp2 NA19054.hp2 NA19056.hp1 NA19063.hp2 NA19070.hp2 NA19083.hp1 NA19083.hp2 NA19240.hp2 NA20300.hp1 NA20805.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0008 a0011 a0015	a0001c0001 a0001c0009 a0001c0010 others(10): Show a0001c0001 a0001c0009 a0001c0010 a0001c0013 a0001c0020 a0001c0023 a0001c0025 a0002c0002 a0003c0003 a0005c0012 a0008c0007 a0011c0024 a0015c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0009t0001 a0001c0010t0001 a0001c0013t0010 a0001c0020t0002 a0001c0023t0001 a0001c0025t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0014 a0003c0003t0001 a0005c0012t0007 a0008c0007t0001 a0011c0024t0011 a0015c0015t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 others(64): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0246 a0001c0001t0001g0256 a0001c0001t0002g0048 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0120 a0001c0001t0002g0149 a0001c0001t0002g0172 a0001c0001t0002g0190 a0001c0001t0002g0223 a0001c0001t0002g0264 a0001c0001t0003g0009 a0001c0001t0005g0202 a0001c0001t0006g0053 a0001c0001t0006g0102 a0001c0001t0009g0211 a0001c0001t0010g0117 a0001c0001t0010g0170 a0001c0009t0001g0241 a0001c0010t0001g0167 a0001c0013t0010g0260 a0001c0020t0002g0069 a0001c0023t0001g0168 a0001c0025t0003g0030 a0002c0002t0001g0159 a0002c0002t0001g0194 a0002c0002t0001g0224 a0002c0002t0002g0123 a0002c0002t0003g0026 a0002c0002t0004g0006 a0002c0002t0004g0008 a0002c0002t0004g0019 a0002c0002t0004g0022 a0002c0002t0004g0025 a0002c0002t0004g0034 a0002c0002t0011g0017 a0002c0002t0014g0029 a0003c0003t0001g0205 a0005c0012t0007g0235 a0008c0007t0001g0150 a0011c0024t0011g0024 a0015c0015t0001g0100	67	268	0.2500	-14	c.252 others(33): Show c.2521+8650_2521+8663delCACACACACACACA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33545924	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp1 HG02056.hp2 others(8): Show HG01109.hp1 HG01255.hp1 HG02056.hp2 HG02129.hp2 HG02165.hp1 HG02630.hp2 HG02886.hp2 HG02922.hp1 HG03486.hp1 NA19030.hp1 NA19043.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0004c0022	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0004c0004t0001 a0004c0022t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0204 others(8): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0204 a0001c0001t0001g0222 a0001c0001t0001g0231 a0001c0001t0001g0239 a0002c0002t0001g0130 a0002c0002t0001g0219 a0002c0002t0003g0018 a0004c0004t0001g0187 a0004c0022t0001g0185	11	268	0.0410	-14	c.252 others(35): Show c.2521+11762_2521+11775delTTTTTTTTTTTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33565781	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18522.hp1 HG03130.hp2 NA18522.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0240 a0001c0009t0001g0241 a0001c0009t0001g0240 a0001c0009t0001g0241	2	268	0.0075	-14	c.252 others(35): Show c.2521+31638_2521+31651delTATATATATATATA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33597067	TGTCACAC others(7): Show TGTCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	268	0.0037	-14	c.252 others(33): Show c.2522-7797_2522-7784delGTCACACACACACA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22			chr7	TogoVar
BBS9_chr7_33124564_33611069	33597069	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG03516.hp2 HG01109.hp2 HG01891.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0156 a0002c0002t0001g0196 a0002c0002t0001g0197 a0001c0001t0001g0156 a0002c0002t0001g0196 a0002c0002t0001g0197	3	268	0.0112	-14	c.252 others(33): Show c.2522-7765_2522-7752delCACACACACACACA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107584028	TATATTAA others(7): Show TATATTAATTATATA	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02886.hp1 HG03130.hp2 others(1): Show HG01975.hp1 HG02886.hp1 HG03130.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 a0001c0001t0001 a0001c0001t0004 a0001c0001t0021	a0001c0001t0001g0217 a0001c0001t0004g0218 a0001c0001t0021g0101 others(1): Show a0001c0001t0001g0217 a0001c0001t0004g0218 a0001c0001t0021g0101 a0001c0001t0021g0215	4	222	0.0180	-14	c.-84 others(33): Show c.-84+57631_-84+57644delATATTAATTATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17			chr3	TogoVar
BBX_chr3_107517962_107816339	107638780	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01256.hp1 HG01975.hp2 others(8): Show HG01109.hp2 HG01256.hp1 HG01975.hp2 HG01978.hp2 HG02083.hp1 HG02622.hp1 HG02965.hp1 HG03130.hp1 HG03209.hp2 NA18962.hp2 NA19070.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0004 a0003c0003 others(1): Show a0001c0001 a0001c0004 a0003c0003 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0004t0009 a0003c0003t0057 a0008c0012t0002	a0001c0001t0001g0063 a0001c0001t0001g0109 a0001c0001t0001g0114 others(8): Show a0001c0001t0001g0063 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0002g0158 a0001c0001t0002g0169 a0001c0001t0005g0141 a0001c0001t0010g0103 a0001c0001t0012g0039 a0001c0004t0009g0116 a0003c0003t0057g0187 a0008c0012t0002g0183	11	222	0.0496	-14	c.-83 others(31): Show c.-83-7016_-83-7003delCACACACACACACA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797337	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	222	0.0045	-14	c.235 others(33): Show c.2354-1172_2354-1159delTATATATATATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107813371	GTGGATAT others(7): Show GTGGATATCTTATGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	222	0.0045	-14	c.79 others(25): Show c.7915_*7928delTGGATATCTTATGT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding		2033		chr3	TogoVar
BCAN_chr1_156637117_156664528	156640404	CTTTTCTT others(7): Show CTTTTCTTTTCTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG02280.hp1 HG02451.hp2 others(17): Show HG01928.hp2 HG02280.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03486.hp1 NA19001.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0002 others(2): Show a0001c0001 a0001c0007 a0002c0002 a0002c0006 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0002c0002t0001 a0002c0006t0001 a0003c0004t0001 a0003c0004t0002	a0001c0001t0001g0056 a0001c0001t0001g0157 a0001c0001t0002g0031 others(11): Show a0001c0001t0001g0056 a0001c0001t0001g0157 a0001c0001t0002g0031 a0001c0001t0002g0051 a0001c0001t0002g0057 a0001c0001t0002g0293 a0001c0007t0001g0030 a0001c0007t0001g0283 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0006t0001g0284 a0002c0006t0001g0286 a0003c0004t0001g0285 a0003c0004t0002g0012	20	420	0.0476	-14	c.-18 others(25): Show c.-1879_-1866delTTTTCTTTTCTTTT	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding		1712		chr1	TogoVar
BCAN_chr1_156637117_156664528	156640409	CTTTTCTT others(7): Show CTTTTCTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	420	0.0024	-14	c.-18 others(25): Show c.-1874_-1861delTTTTCTTTTTTTTT	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding		1707		chr1	TogoVar
BCAN_chr1_156637117_156664528	156646650	ACCCTGGC others(7): Show ACCCTGGCCCCTGGC	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0027 a0002c0003t0002g0027	2	420	0.0048	-14	c.92- others(27): Show c.92-137_92-124delCCCCTGGCCCCTGG	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
BCAN_chr1_156637117_156664528	156661446	GGCCCGGA others(7): Show GGCCCGGAAACGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	420	0.0024	-14	c.23 others(25): Show c.2313_*2326delGCCCGGAAACGGAA	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding		1919		chr1	TogoVar
BCAP29_chr7_107575246_107625478	107598894	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp2 others(134): Show HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19055.hp1 NA19057.hp1 NA19060.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp2 NA19089.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(121): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0338 a0001c0001t0002g0233 a0001c0001t0004g0002 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0198 a0001c0001t0009g0165 a0001c0001t0009g0166 a0001c0001t0009g0183 a0001c0001t0010g0131 a0001c0001t0010g0167 a0001c0001t0015g0164 a0001c0001t0016g0247 a0001c0001t0019g0048	137	398	0.3442	-14	c.481 others(31): Show c.481-1478_481-1465delACACACACACACAC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107612391	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0353 a0001c0001t0007g0353	1	398	0.0025	-14	c.590 others(29): Show c.590-905_590-892delATATATATATATAT	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP31_chrX_153695492_153729387	153703306	GCCCTGGC others(7): Show GCCCTGGCCCCTGGC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG02896.hp1 others(4): Show HG02055.hp1 HG02622.hp1 HG02896.hp1 HG02970.hp1 HG03540.hp1 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0055 a0001c0001t0001g0066 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0152	7	267	0.0262	-14	c.478 others(29): Show c.478-262_478-249delGCCAGGGGCCAGGG	BCAP31	ENSG00000185825.17	transcript	ENST00000345046.12	protein_coding	5/7			chrX	TogoVar
BCAR3_chr1_93556741_93686837	93643545	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp1 HG01516.hp2 others(23): Show HG00423.hp1 HG00639.hp1 HG01516.hp2 HG01517.hp2 HG02896.hp1 HG03098.hp1 HG03195.hp2 HG03834.hp1 HG04228.hp2 NA18946.hp1 NA18947.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18974.hp2 NA18977.hp1 NA18983.hp2 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19012.hp2 NA19060.hp2 NA19066.hp1 NA19068.hp1 NA19075.hp2 NA19079.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0003c0004t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 others(20): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0098 a0001c0001t0005g0039 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0041 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0003c0004t0001g0040	26	202	0.1287	-14	c.318 others(31): Show c.318-1216_318-1203delTTTTTTTTTTTTTT	BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding	2/11			chr1	TogoVar
BCAS1_chr20_53938541_54075594	53954294	GGAGAGAG others(7): Show GGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0195 a0002c0002t0019g0195	1	364	0.0028	-14	c.155 others(31): Show c.1552-613_1552-600delTCTCTCTCTCTCTC	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	11/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	54069171	CACCCAGG others(7): Show CACCCAGGGCCTGAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp2 others(43): Show HG00408.hp1 HG00423.hp2 HG00438.hp2 HG01069.hp1 HG01081.hp1 HG01516.hp1 HG02027.hp1 HG02074.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02523.hp2 HG02602.hp1 HG02735.hp1 HG02738.hp1 HG03669.hp2 HG03688.hp2 HG04115.hp1 HG04184.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18947.hp1 NA18949.hp1 NA18955.hp2 NA18957.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18977.hp2 NA18981.hp1 NA18990.hp2 NA18992.hp1 NA18995.hp1 NA18999.hp1 NA19001.hp1 NA19002.hp2 NA19006.hp1 NA19011.hp1 NA19062.hp2 NA19066.hp2 NA19081.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0013 a0014 a0020	a0001c0001 a0001c0007 a0002c0002 others(6): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0013c0013 a0014c0014 a0020c0023	a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 others(17): Show a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 a0001c0001t0049 a0001c0001t0051 a0001c0007t0001 a0001c0007t0004 a0001c0007t0014 a0001c0007t0015 a0001c0007t0050 a0002c0002t0001 a0003c0003t0001 a0003c0003t0014 a0004c0004t0019 a0006c0006t0018 a0006c0006t0029 a0013c0013t0004 a0013c0013t0047 a0014c0014t0003 a0020c0023t0036	a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 others(43): Show a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0330 a0001c0001t0004g0336 a0001c0001t0004g0344 a0001c0001t0004g0346 a0001c0001t0004g0348 a0001c0001t0004g0349 a0001c0001t0004g0351 a0001c0001t0014g0322 a0001c0001t0015g0326 a0001c0001t0015g0333 a0001c0001t0015g0343 a0001c0001t0015g0345 a0001c0001t0015g0356 a0001c0001t0049g0338 a0001c0001t0051g0315 a0001c0007t0001g0335 a0001c0007t0004g0313 a0001c0007t0004g0314 a0001c0007t0004g0331 a0001c0007t0004g0332 a0001c0007t0004g0337 a0001c0007t0004g0342 a0001c0007t0014g0328 a0001c0007t0014g0329 a0001c0007t0014g0341 a0001c0007t0015g0319 a0001c0007t0050g0321 a0002c0002t0001g0355 a0003c0003t0001g0311 a0003c0003t0014g0312 a0003c0003t0014g0340 a0004c0004t0019g0353 a0006c0006t0018g0320 a0006c0006t0018g0323 a0006c0006t0029g0334 a0006c0006t0029g0347 a0013c0013t0004g0339 a0013c0013t0047g0350 a0014c0014t0003g0354 a0020c0023t0036g0327 a0020c0023t0036g0352	46	364	0.1264	-14	c.-6+ others(29): Show c.-6+1248_-6+1261delTTCAGGCCCTGGGT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	1/12			chr20	TogoVar
BCAS3_chr17_60672851_61397831	60683505	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	74	0.0135	-14	c.84- others(27): Show c.84-451_84-438delTTTTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60754680	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA20300.hp1 HG03041.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0045 a0001c0004t0002g0044 a0001c0004t0001g0045 a0001c0004t0002g0044	2	74	0.0270	-14	c.403 others(31): Show c.403+7449_403+7462delCACACACACACACA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60757394	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0048 a0002c0003t0002g0048	1	74	0.0135	-14	c.403 others(33): Show c.403+10145_403+10158delGTGTGTGTGTGTGT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60872466	ATATATAT others(7): Show ATATATATCTGTATG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02083.hp2 HG02809.hp1 others(9): Show HG01891.hp1 HG02083.hp2 HG02809.hp1 HG02970.hp1 HG03041.hp1 HG03225.hp1 HG03453.hp2 HG03579.hp1 NA18951.hp2 NA19030.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0003 a0003c0001 a0001c0004 a0002c0003 a0003c0001	a0001c0004t0001 a0001c0004t0002 a0002c0003t0001 others(2): Show a0001c0004t0001 a0001c0004t0002 a0002c0003t0001 a0003c0001t0001 a0003c0001t0002	a0001c0004t0001g0034 a0001c0004t0001g0043 a0001c0004t0001g0045 others(9): Show a0001c0004t0001g0034 a0001c0004t0001g0043 a0001c0004t0001g0045 a0001c0004t0001g0047 a0001c0004t0001g0049 a0001c0004t0001g0058 a0001c0004t0002g0044 a0002c0003t0001g0040 a0002c0003t0001g0052 a0003c0001t0001g0011 a0003c0001t0001g0028 a0003c0001t0002g0022	12	74	0.1622	-14	c.585 others(31): Show c.585-2174_585-2161delCTGTATGTATATAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61246792	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0026 a0003c0001t0001g0026	1	74	0.0135	-14	c.242 others(37): Show c.2426-121510_2426-121497delGTGTGTGTGTGTGT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61271589	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03453.hp2 NA19240.hp2 HG02922.hp2 HG03453.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0003 a0001c0002 a0001c0004 a0002c0003	a0001c0002t0001 a0001c0004t0001 a0002c0003t0001 a0001c0002t0001 a0001c0004t0001 a0002c0003t0001	a0001c0002t0001g0060 a0001c0004t0001g0034 a0002c0003t0001g0016 a0001c0002t0001g0060 a0001c0004t0001g0034 a0002c0003t0001g0016	3	74	0.0405	-14	c.242 others(35): Show c.2426-96706_2426-96693delGTGTGTGTGTGTGT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61272636	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02083.hp1 HG02559.hp2 others(7): Show HG01099.hp1 HG02083.hp1 HG02559.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG03540.hp2 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0002c0003 others(3): Show a0001c0002 a0001c0004 a0002c0003 a0002c0005 a0002c0006 a0003c0001	a0001c0002t0002 a0001c0004t0002 a0002c0003t0003 others(4): Show a0001c0002t0002 a0001c0004t0002 a0002c0003t0003 a0002c0005t0001 a0002c0006t0002 a0003c0001t0001 a0003c0001t0002	a0001c0002t0002g0054 a0001c0002t0002g0069 a0001c0004t0002g0072 others(7): Show a0001c0002t0002g0054 a0001c0002t0002g0069 a0001c0004t0002g0072 a0002c0003t0003g0013 a0002c0005t0001g0019 a0002c0006t0002g0030 a0003c0001t0001g0009 a0003c0001t0001g0021 a0003c0001t0002g0022 a0003c0001t0002g0029	10	74	0.1351	-14	c.242 others(35): Show c.2426-95673_2426-95660delAAAAAAAAAAAAAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61322816	GAGAGAGA others(7): Show GAGAGAGAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19030.hp2 HG02451.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0063 a0002c0003t0001g0052 a0001c0002t0001g0063 a0002c0003t0001g0052	2	74	0.0270	-14	c.242 others(35): Show c.2426-45497_2426-45484delCAGAGAGAGAGAGA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS4_chr20_50790061_50882177	50796452	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	270	0.0037	-14	c.90+ others(29): Show c.90+1302_90+1315delATATATATATATAT	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
BCAS4_chr20_50790061_50882177	50796475	ATATATAT others(7): Show ATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	270	0.0037	-14	c.90+ others(29): Show c.90+1304_90+1317delATATATATATATTT	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
BCAS4_chr20_50790061_50882177	50796485	ATATTTTT others(7): Show ATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0006 a0001c0008t0001g0006	1	270	0.0037	-14	c.90+ others(29): Show c.90+1314_90+1327delATTTTTTTTTTTTT	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
BCAS4_chr20_50790061_50882177	50861846	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	270	0.0037	-14	c.400 others(33): Show c.400-14629_400-14616delTTTTTTTTTTTTTT	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
BCAT1_chr12_24805024_24954101	24836906	GAGAGAAA others(7): Show GAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01109.hp1 HG01358.hp2 others(18): Show HG00558.hp1 HG01109.hp1 HG01358.hp2 HG01496.hp2 HG01891.hp2 HG01993.hp2 HG02074.hp1 HG02132.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02886.hp2 HG03669.hp1 HG03710.hp2 NA18959.hp1 NA18967.hp2 NA18975.hp2 NA19002.hp1 NA19060.hp1 NA19088.hp2 NA20905.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0008 a0004c0007 a0001c0001 a0003c0008 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0017 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0043 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0105 a0001c0001t0116 a0003c0008t0002 a0004c0007t0002	a0001c0001t0001g0135 a0001c0001t0002g0006 a0001c0001t0002g0198 others(18): Show a0001c0001t0001g0135 a0001c0001t0002g0006 a0001c0001t0002g0198 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0013g0053 a0001c0001t0017g0180 a0001c0001t0026g0001 a0001c0001t0027g0227 a0001c0001t0027g0249 a0001c0001t0030g0295 a0001c0001t0043g0253 a0001c0001t0045g0136 a0001c0001t0048g0315 a0001c0001t0048g0316 a0001c0001t0049g0303 a0001c0001t0051g0310 a0001c0001t0105g0150 a0001c0001t0116g0114 a0003c0008t0002g0076 a0004c0007t0002g0077	21	322	0.0652	-14	c.818 others(29): Show c.818-324_818-311delTTCTTTCTTTCTCT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	7/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24836947	AAAGAAAG others(7): Show AAAGAAAGAAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03239.hp2 HG04199.hp2 others(1): Show HG01255.hp1 HG03239.hp2 HG04199.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0025 others(1): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0025 a0001c0001t0102	a0001c0001t0006g0209 a0001c0001t0009g0214 a0001c0001t0025g0231 others(1): Show a0001c0001t0006g0209 a0001c0001t0009g0214 a0001c0001t0025g0231 a0001c0001t0102g0059	4	322	0.0124	-14	c.818 others(29): Show c.818-365_818-352delCTCTTTTCTTTCTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	7/10			chr12	TogoVar
BCDIN3D_chr12_49831043_49848106	49837273	GTTTTTTT others(7): Show GTTTTTTTTTTTGTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG01884.hp1 HG02055.hp2 others(4): Show HG00738.hp1 HG01884.hp1 HG02055.hp2 HG02723.hp1 HG02976.hp2 HG03098.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0026 a0001c0001t0013 a0001c0001t0026	a0001c0001t0013g0013 a0001c0001t0026g0029 a0001c0001t0013g0013 a0001c0001t0026g0029	7	420	0.0167	-14	c.10 others(25): Show c.1084_*1097delAACAAAAAAAAAAA	BCDIN3D	ENSG00000186666.6	transcript	ENST00000333924.6	protein_coding	2/2	1084		chr12	TogoVar
BCHE_chr3_165767904_165842423	165809605	TTGTATTA others(7): Show TTGTATTAAGGCAAA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	304	0.0033	-14	c.151 others(35): Show c.1517+19898_1517+19911delTTTGCCTTAATACA	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BCKDHA_chr19_41392818_41430002	41428601	TTTGGGGC others(7): Show TTTGGGGCAGGCCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	374	0.0027	-14	c.39 others(25): Show c.3994_*4007delTTGGGGCAGGCCTG	BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding		3600		chr19	TogoVar
BCKDHB_chr6_80101671_80351270	80128872	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0271 a0001c0001t0006g0271	1	294	0.0034	-14	c.275 others(29): Show c.275-266_275-253delTGTGTGTGTGTGTG	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCKDHB_chr6_80101671_80351270	80177225	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02615.hp1 HG02970.hp2 others(4): Show HG01346.hp2 HG02615.hp1 HG02970.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0030	a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 others(4): Show a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0003g0149 a0001c0001t0015g0150 a0001c0001t0030g0155	7	294	0.0238	-14	c.742 others(31): Show c.742+5852_742+5865delAAAAAAAAAAAAAA	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCKDHB_chr6_80101671_80351270	80230026	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0245 a0001c0001t0002g0246	2	294	0.0068	-14	c.951 others(33): Show c.951+26831_951+26844delTTTTTTTTTTTTTT	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCKDHB_chr6_80101671_80351270	80349773	AATACAAG others(7): Show AATACAAGTGAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0113 a0001c0001t0024g0113	1	294	0.0034	-14	c.59 others(25): Show c.5970_*5983delATACAAGTGAAAAC	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding		3504		chr6	TogoVar
BCL11A_chr2_60452194_60558654	60507237	AGGGAGGG others(7): Show AGGGAGGGAGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18983.hp1 HG00423.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0043 a0001c0001t0020g0047 a0001c0001t0001g0043 a0001c0001t0020g0047	2	262	0.0076	-14	c.386 others(33): Show c.386-38418_386-38405delCTCCCCTCCCTCCC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60507365	AAGGGAAG others(7): Show AAGGGAAGGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0062 a0001c0004t0062	a0001c0004t0062g0235 a0001c0004t0062g0235	1	262	0.0038	-14	c.386 others(33): Show c.386-38546_386-38533delCCCTTCCCTTCCCT	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCL11B_chr14_99164287_99277197	99199671	TGTGTGTG others(7): Show TGTGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0304 a0001c0001t0017g0304	1	350	0.0029	-14	c.641 others(33): Show c.641-23490_641-23477delGCACACACACACAC	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL11B_chr14_99164287_99277197	99199684	GCGCGCGC others(7): Show GCGCGCGCGCGCGCA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02809.hp2 HG02922.hp1 others(2): Show HG02004.hp2 HG02809.hp2 HG02922.hp1 HG03139.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0012 a0001c0001t0035 others(1): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0035 a0001c0002t0010	a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0012g0147 others(2): Show a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0012g0147 a0001c0001t0035g0008 a0001c0002t0010g0318	5	350	0.0143	-14	c.641 others(33): Show c.641-23503_641-23490delTGCGCGCGCGCGCG	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL11B_chr14_99164287_99277197	99269875	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	350	0.0029	-14	c.58+ others(29): Show c.58+1272_58+1285delTTTTTTTTTTTTTT	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	1/3			chr14	TogoVar
BCL2L13_chr22_17633757_17735855	17635175	GCCACAAG others(7): Show GCCACAAGTTCAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01261.hp1 HG00280.hp1 HG00639.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0138 a0001c0001t0002g0188 a0001c0001t0002g0116 a0001c0001t0002g0138 a0001c0001t0002g0188	3	306	0.0098	-14	c.-37 others(25): Show c.-3761_-3748delCCACAAGTTCAAGA	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding		3581		chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17656335	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01074.hp2 HG01081.hp1 others(7): Show HG00423.hp1 HG01074.hp2 HG01081.hp1 HG01361.hp1 HG01884.hp2 HG02055.hp1 HG02148.hp2 HG02300.hp2 HG03492.hp2 HG03654.hp1	a0003 a0003	a0003c0004 a0003c0005 a0003c0004 a0003c0005	a0003c0004t0015 a0003c0004t0016 a0003c0004t0031 others(1): Show a0003c0004t0015 a0003c0004t0016 a0003c0004t0031 a0003c0005t0006	a0003c0004t0015g0080 a0003c0004t0015g0081 a0003c0004t0016g0088 others(7): Show a0003c0004t0015g0080 a0003c0004t0015g0081 a0003c0004t0016g0088 a0003c0004t0016g0089 a0003c0004t0031g0254 a0003c0005t0006g0082 a0003c0005t0006g0083 a0003c0005t0006g0084 a0003c0005t0006g0085 a0003c0005t0006g0086	10	306	0.0327	-14	c.121 others(29): Show c.121+523_121+536delTTTTTTTTTTTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar

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