Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BABAM2_chr2_27885729_28343901	28115182	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	158	0.0063	-24	c.571 others(43): Show c.571-14069_571-14046delCACACACACACACACACACACACA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BACH2_chr6_89921528_90301843	89959097	GCACACAC others(17): Show GCACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0170 a0001c0001t0026g0170	1	194	0.0052	-24	c.244 others(41): Show c.244-7259_244-7236delTGTGTGTGTGTGTGTGTGTGTGTG	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	6/8			chr6	TogoVar
BAG4_chr8_38171855_38218301	38201834	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0004 a0001c0001t0010g0004	1	306	0.0033	-24	c.379 others(41): Show c.379-5654_379-5631delATATATATATATATATATATATAT	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
BAHCC1_chr17_81390457_81471331	81411506	GCCTGCCT others(17): Show GCCTGCCTGCCTTCCTTCCTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0001 a0013c0027t0001	a0013c0027t0001g0026 a0013c0027t0001g0026	1	332	0.0030	-24	c.178 others(43): Show c.178+11593_178+11616delGCCTGCCTTCCTTCCTTCCTTCCT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81432743	CCCGAGCC others(17): Show CCCGAGCCCCAGACCCACCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0017 a0017	a0017c0023 a0017c0023	a0017c0023t0038 a0017c0023t0038	a0017c0023t0038g0027 a0017c0023t0038g0027	1	332	0.0030	-24	c.359 others(41): Show c.359-5624_359-5601delGAGCCCCAGACCCACCCTCCCTCC	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81432887	CCCCCCCA others(17): Show CCCCCCCATCCCCAGGCCCACCCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00673.hp1 others(74): Show HG00099.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG01070.hp1 HG01074.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01891.hp1 HG01943.hp2 HG02071.hp2 HG02080.hp1 HG02155.hp2 HG02258.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03540.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18942.hp1 NA18944.hp1 NA18950.hp1 NA18951.hp2 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA20129.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0006 a0007 a0008 a0010 a0013 a0015 a0016 a0017 a0019 a0021 a0023 a0031 a0032 a0034 a0035 a0047 a0055	a0001c0003 a0001c0007 a0001c0009 others(33): Show a0001c0003 a0001c0007 a0001c0009 a0001c0010 a0001c0012 a0001c0019 a0001c0021 a0001c0026 a0001c0093 a0001c0101 a0001c0103 a0002c0001 a0002c0063 a0003c0002 a0003c0018 a0003c0064 a0006c0020 a0007c0008 a0007c0048 a0008c0024 a0008c0029 a0010c0031 a0010c0102 a0013c0027 a0015c0014 a0016c0030 a0017c0023 a0019c0036 a0021c0079 a0023c0084 a0031c0091 a0032c0071 a0034c0033 a0035c0095 a0047c0046 a0055c0034	a0001c0003t0003 a0001c0003t0010 a0001c0007t0002 others(40): Show a0001c0003t0003 a0001c0003t0010 a0001c0007t0002 a0001c0007t0015 a0001c0007t0033 a0001c0009t0024 a0001c0009t0025 a0001c0010t0001 a0001c0010t0009 a0001c0012t0002 a0001c0019t0003 a0001c0021t0002 a0001c0026t0003 a0001c0093t0001 a0001c0101t0010 a0001c0103t0026 a0002c0001t0001 a0002c0063t0020 a0003c0002t0001 a0003c0002t0004 a0003c0018t0002 a0003c0064t0005 a0006c0020t0002 a0007c0008t0001 a0007c0008t0004 a0007c0048t0002 a0008c0024t0001 a0008c0029t0021 a0010c0031t0004 a0010c0102t0004 a0013c0027t0001 a0015c0014t0001 a0016c0030t0007 a0017c0023t0038 a0019c0036t0001 a0021c0079t0003 a0023c0084t0003 a0031c0091t0001 a0032c0071t0003 a0034c0033t0001 a0035c0095t0002 a0047c0046t0004 a0055c0034t0002	a0001c0003t0003g0044 a0001c0003t0003g0046 a0001c0003t0003g0047 others(73): Show a0001c0003t0003g0044 a0001c0003t0003g0046 a0001c0003t0003g0047 a0001c0003t0003g0050 a0001c0003t0003g0053 a0001c0003t0003g0059 a0001c0003t0003g0067 a0001c0003t0003g0186 a0001c0003t0003g0258 a0001c0003t0003g0289 a0001c0003t0003g0290 a0001c0003t0010g0211 a0001c0007t0002g0007 a0001c0007t0015g0275 a0001c0007t0033g0135 a0001c0009t0024g0248 a0001c0009t0025g0252 a0001c0010t0001g0034 a0001c0010t0009g0185 a0001c0012t0002g0133 a0001c0019t0003g0200 a0001c0019t0003g0294 a0001c0019t0003g0315 a0001c0021t0002g0077 a0001c0021t0002g0114 a0001c0026t0003g0246 a0001c0026t0003g0247 a0001c0093t0001g0145 a0001c0101t0010g0020 a0001c0103t0026g0245 a0002c0001t0001g0109 a0002c0001t0001g0131 a0002c0001t0001g0244 a0002c0001t0001g0274 a0002c0001t0001g0276 a0002c0001t0001g0285 a0002c0001t0001g0291 a0002c0001t0001g0324 a0002c0001t0001g0326 a0002c0001t0001g0327 a0002c0063t0020g0251 a0003c0002t0001g0062 a0003c0002t0001g0183 a0003c0002t0004g0295 a0003c0002t0004g0310 a0003c0018t0002g0210 a0003c0064t0005g0198 a0006c0020t0002g0238 a0006c0020t0002g0325 a0007c0008t0001g0005 a0007c0008t0001g0021 a0007c0008t0001g0257 a0007c0008t0001g0309 a0007c0008t0001g0312 a0007c0008t0004g0317 a0007c0048t0002g0308 a0008c0024t0001g0306 a0008c0029t0021g0311 a0010c0031t0004g0018 a0010c0102t0004g0017 a0013c0027t0001g0025 a0013c0027t0001g0026 a0015c0014t0001g0001 a0015c0014t0001g0243 a0016c0030t0007g0032 a0016c0030t0007g0239 a0017c0023t0038g0027 a0019c0036t0001g0019 a0021c0079t0003g0192 a0023c0084t0003g0129 a0031c0091t0001g0042 a0032c0071t0003g0006 a0034c0033t0001g0178 a0035c0095t0002g0146 a0047c0046t0004g0273 a0055c0034t0002g0216	77	332	0.2319	-24	c.359 others(41): Show c.359-5467_359-5444delCCCACCCTTCCCCCCATCCCCAGG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98405328	GCTTGCTT others(17): Show GCTTGCTTGCTTGCTTGCTTTCTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0200 a0001c0002t0001g0200	1	298	0.0034	-24	c.-45 others(35): Show c.-4500_-4477delAAAGAAAGCAAGCAAGCAAGCAAG	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding		4239		chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98405332	GCTTGCTT others(17): Show GCTTGCTTGCTTGCTTTCTTTCTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0151	1	298	0.0034	-24	c.-45 others(35): Show c.-4504_-4481delAAAGAAAGAAAGCAAGCAAGCAAG	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding		4243		chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98405340	GCTTGCTT others(17): Show GCTTGCTTTCTTTCTTTCTTTCTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0114 a0001c0001t0004g0114	1	298	0.0034	-24	c.-45 others(35): Show c.-4512_-4489delAAAGAAAGAAAGAAAGAAAGCAAG	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding		4251		chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98405344	GCTTTCTT others(17): Show GCTTTCTTTCTTTCTTTCTTTCTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01169.hp1 HG01169.hp2 others(4): Show HG01074.hp2 HG01169.hp1 HG01169.hp2 HG02486.hp1 HG02886.hp2 NA18612.hp1 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0003t0003 a0001c0004t0003 a0001c0002t0001 a0001c0003t0003 a0001c0004t0003	a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0003t0003g0247 others(4): Show a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0003t0003g0247 a0001c0003t0003g0294 a0001c0004t0003g0240 a0001c0004t0003g0241 a0001c0004t0003g0286	7	298	0.0235	-24	c.-45 others(35): Show c.-4516_-4493delAAAGAAAGAAAGAAAGAAAGAAAG	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding		4255		chr7	TogoVar
BAIAP2_chr17_81030151_81122434	81098962	GTCCCCCC others(17): Show GTCCCCCCATCCCCCCATCCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00438.hp2 others(99): Show HG00099.hp1 HG00408.hp1 HG00438.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01192.hp2 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01516.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02602.hp1 HG02647.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02965.hp1 HG03130.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp2 NA18963.hp1 NA18966.hp1 NA18969.hp2 NA18975.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19091.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0003c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0036 a0001c0001t0038 a0001c0001t0042 a0001c0001t0045 a0001c0003t0001 a0001c0003t0041 a0001c0007t0001 a0002c0002t0002 a0003c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(99): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0156 a0001c0001t0001g0172 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0286 a0001c0001t0001g0293 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0322 a0001c0001t0001g0329 a0001c0001t0001g0349 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0358 a0001c0001t0001g0363 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0005g0263 a0001c0001t0009g0019 a0001c0001t0009g0034 a0001c0001t0009g0054 a0001c0001t0015g0183 a0001c0001t0015g0190 a0001c0001t0036g0251 a0001c0001t0038g0033 a0001c0001t0042g0331 a0001c0001t0045g0351 a0001c0003t0001g0177 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0001g0194 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0216 a0001c0003t0001g0225 a0001c0003t0001g0227 a0001c0003t0041g0110 a0001c0007t0001g0360 a0001c0007t0001g0361 a0002c0002t0002g0075 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0003c0010t0001g0373	102	376	0.2713	-24	c.490 others(39): Show c.490-945_490-922delCCCATCCCCCCATCCCCCCATCCC	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BANK1_chr4_101785730_102079812	101839937	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	284	0.0035	-24	c.469 others(41): Show c.469+9757_469+9780delTTTTTTTTTTTTTTTTTTTTTTTT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101992531	CAGTTCAT others(17): Show CAGTTCATAGAAACCATGTTAGAAA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	284	0.0035	-24	c.120 others(45): Show c.1207-28956_1207-28933delTTCATAGAAACCATGTTAGAAAAG	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BARD1_chr2_214720646_214814683	214751101	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG01346.hp1 others(29): Show HG00408.hp1 HG00438.hp2 HG01346.hp1 HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02165.hp1 HG02273.hp1 HG02293.hp2 HG02615.hp1 HG02965.hp1 HG03017.hp1 HG03195.hp2 HG03688.hp1 HG03927.hp2 HG03942.hp1 NA18522.hp2 NA18944.hp2 NA18949.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18969.hp1 NA18969.hp2 NA18984.hp1 NA18990.hp1 NA18994.hp2 NA19000.hp2 NA19010.hp1 NA19063.hp1 NA19090.hp1	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0007c0032 a0009c0011	a0001c0002t0003 a0001c0002t0004 a0001c0002t0019 others(8): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0019 a0001c0003t0002 a0001c0003t0007 a0001c0003t0010 a0001c0003t0028 a0001c0004t0009 a0007c0032t0002 a0009c0011t0032 a0009c0011t0047	a0001c0002t0003g0283 a0001c0002t0003g0308 a0001c0002t0003g0315 others(28): Show a0001c0002t0003g0283 a0001c0002t0003g0308 a0001c0002t0003g0315 a0001c0002t0003g0332 a0001c0002t0004g0019 a0001c0002t0004g0291 a0001c0002t0004g0305 a0001c0002t0019g0306 a0001c0003t0002g0045 a0001c0003t0002g0049 a0001c0003t0002g0053 a0001c0003t0002g0059 a0001c0003t0002g0061 a0001c0003t0002g0068 a0001c0003t0002g0069 a0001c0003t0002g0070 a0001c0003t0002g0075 a0001c0003t0002g0076 a0001c0003t0002g0077 a0001c0003t0002g0088 a0001c0003t0002g0090 a0001c0003t0002g0097 a0001c0003t0007g0042 a0001c0003t0007g0089 a0001c0003t0010g0047 a0001c0003t0028g0060 a0001c0004t0009g0125 a0007c0032t0002g0194 a0009c0011t0032g0025 a0009c0011t0032g0115 a0009c0011t0047g0116	32	362	0.0884	-24	c.167 others(43): Show c.1677+1322_1677+1345delTATATATACACACACACACACACA	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	7/10			chr2	TogoVar
BARD1_chr2_214720646_214814683	214751103	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01516.hp2 HG01517.hp1 others(6): Show HG01255.hp1 HG01516.hp2 HG01517.hp1 HG01952.hp1 HG02109.hp2 HG02258.hp1 HG02300.hp1 NA18989.hp1 NA18998.hp2	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0002 a0001c0003 a0001c0021 others(2): Show a0001c0002 a0001c0003 a0001c0021 a0002c0001 a0015c0028	a0001c0002t0022 a0001c0003t0002 a0001c0003t0007 others(3): Show a0001c0002t0022 a0001c0003t0002 a0001c0003t0007 a0001c0021t0022 a0002c0001t0002 a0015c0028t0067	a0001c0002t0022g0233 a0001c0002t0022g0235 a0001c0003t0002g0054 others(5): Show a0001c0002t0022g0233 a0001c0002t0022g0235 a0001c0003t0002g0054 a0001c0003t0002g0114 a0001c0003t0007g0082 a0001c0021t0022g0236 a0002c0001t0002g0014 a0015c0028t0067g0241	9	362	0.0249	-24	c.167 others(43): Show c.1677+1320_1677+1343delTATATATATACACACACACACACA	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	7/10			chr2	TogoVar
BARD1_chr2_214720646_214814683	214751107	GTGTGTGT others(17): Show GTGTGTGTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02922.hp1 HG02451.hp1 HG02922.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0005 a0001c0004 a0003c0005	a0001c0004t0057 a0003c0005t0041 a0001c0004t0057 a0003c0005t0041	a0001c0004t0057g0278 a0003c0005t0041g0026 a0001c0004t0057g0278 a0003c0005t0041g0026	2	362	0.0055	-24	c.167 others(43): Show c.1677+1316_1677+1339delTATATATATATATACACACACACA	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	7/10			chr2	TogoVar
BARHL2_chr1_90706539_90722302	90709320	GAGGGAGG others(17): Show GAGGGAGGGAGGAAGGAAGGAAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	446	0.0022	-24	c.29 others(35): Show c.2968_*2991delTCCTTCCTTCCTTCCTCCCTCCCT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		2218		chr1	TogoVar
BARHL2_chr1_90706539_90722302	90709324	GAGGGAGG others(17): Show GAGGGAGGAAGGAAGGAAGGAAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	446	0.0022	-24	c.29 others(35): Show c.2964_*2987delTCCTTCCTTCCTTCCTTCCTCCCT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		2214		chr1	TogoVar
BARHL2_chr1_90706539_90722302	90709328	GAGGAAGG others(17): Show GAGGAAGGAAGGAAGGAAGGAAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	446	0.0022	-24	c.29 others(35): Show c.2960_*2983delTCCTTCCTTCCTTCCTTCCTTCCT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		2210		chr1	TogoVar
BATF2_chr11_64982945_65001971	64999736	CTCAGTCC others(17): Show CTCAGTCCTGCTCCACACTCTGCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	404	0.0025	-24	c.-28 others(35): Show c.-2846_-2823delAAGCAGAGTGTGGAGCAGGACTGA	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		2766		chr11	TogoVar
BATF3_chr1_212681417_212704840	212687996	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02965.hp1 NA19043.hp2 HG02559.hp2 HG02965.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	3	462	0.0065	-24	c.196 others(41): Show c.196-1041_196-1018delCCTTCCTTCCTTCCTTCCTTCCTT	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding	2/2			chr1	TogoVar
BAX_chr19_48949875_48966798	48963356	TGGGTCTC others(17): Show TGGGTCTCTGTCCCCCTCTCTCTCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	418	0.0024	-24	c.17 others(35): Show c.1721_*1744delGGGTCTCTGTCCCCCTCTCTCTCA	BAX	ENSG00000087088.21	transcript	ENST00000345358.12	protein_coding		1559		chr19	TogoVar
BAZ2B_chr2_159313979_159621548	159324625	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00438.hp1 others(75): Show HG00099.hp1 HG00280.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01106.hp1 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01515.hp2 HG01934.hp1 HG01978.hp1 HG02004.hp1 HG02257.hp1 HG02257.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03654.hp2 HG03710.hp2 HG04204.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18968.hp1 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18985.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19057.hp2 NA19064.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011 a0020 a0021	a0001c0001 a0001c0008 a0001c0023 others(14): Show a0001c0001 a0001c0008 a0001c0023 a0002c0002 a0002c0007 a0002c0018 a0003c0003 a0003c0013 a0004c0004 a0004c0009 a0005c0005 a0006c0006 a0006c0016 a0007c0010 a0011c0031 a0020c0014 a0021c0012	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0001c0023t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0007t0001 a0002c0007t0002 a0002c0018t0001 a0003c0003t0001 a0003c0013t0006 a0004c0004t0001 a0004c0004t0002 a0004c0009t0001 a0005c0005t0001 a0005c0005t0002 a0006c0006t0001 a0006c0016t0002 a0007c0010t0001 a0007c0010t0003 a0011c0031t0001 a0020c0014t0002 a0021c0012t0001	a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(75): Show a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0127 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0161 a0001c0001t0002g0165 a0001c0001t0002g0169 a0001c0001t0002g0178 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0008t0001g0060 a0001c0023t0002g0147 a0002c0002t0001g0011 a0002c0002t0001g0023 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0043 a0002c0002t0001g0049 a0002c0002t0001g0093 a0002c0002t0001g0103 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0002g0187 a0002c0002t0002g0201 a0002c0002t0005g0129 a0002c0007t0001g0045 a0002c0007t0002g0185 a0002c0018t0001g0066 a0003c0003t0001g0009 a0003c0003t0001g0014 a0003c0003t0001g0063 a0003c0003t0001g0065 a0003c0003t0001g0082 a0003c0013t0006g0058 a0004c0004t0001g0013 a0004c0004t0001g0070 a0004c0004t0001g0076 a0004c0004t0001g0109 a0004c0004t0001g0119 a0004c0004t0002g0203 a0004c0009t0001g0010 a0004c0009t0001g0099 a0004c0009t0001g0100 a0005c0005t0001g0069 a0005c0005t0002g0167 a0005c0005t0002g0173 a0006c0006t0001g0007 a0006c0006t0001g0081 a0006c0016t0002g0146 a0007c0010t0001g0114 a0007c0010t0001g0115 a0007c0010t0003g0002 a0011c0031t0001g0108 a0020c0014t0002g0181 a0021c0012t0001g0073	78	216	0.3611	-24	c.635 others(41): Show c.6353+162_6353+185delGTGTGTGTGTGTGTGTGTGTGTGT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	36/36			chr2	TogoVar
BBOF1_chr14_74014349_74071092	74044239	CTGTCTCA others(17): Show CTGTCTCAAAACAATAATAATAAAA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02965.hp1 HG02818.hp2 HG02965.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0003 a0006c0005t0003	a0006c0005t0003g0374 a0006c0005t0003g0375 a0006c0005t0003g0374 a0006c0005t0003g0375	2	386	0.0052	-24	c.577 others(41): Show c.577-1819_577-1796delGTCTCAAAACAATAATAATAAAAT	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBS4_chr15_72681207_72743473	72713333	ACACACAC others(17): Show ACACACACACACACACACGCACACG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00438.hp2 others(112): Show HG00140.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG01123.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02074.hp2 HG02080.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG02647.hp2 HG03195.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG04184.hp2 HG04228.hp1 NA18612.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20805.hp1 NA20905.hp1	a0001 a0006 a0008 others(1): Show a0001 a0006 a0008 a0010	a0001c0001 a0006c0010 a0008c0012 others(1): Show a0001c0001 a0006c0010 a0008c0012 a0010c0013	a0001c0001t0001 a0006c0010t0001 a0008c0012t0001 others(1): Show a0001c0001t0001 a0006c0010t0001 a0008c0012t0001 a0010c0013t0001	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 others(112): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0277 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0349 a0006c0010t0001g0089 a0008c0012t0001g0032 a0010c0013t0001g0031	115	398	0.2889	-24	c.220 others(41): Show c.220+1030_220+1053delACACACACACACACGCACACGCAC	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS5_chr2_169474494_169511655	169489851	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03688.hp1 HG03704.hp2 others(3): Show HG00099.hp1 HG03688.hp1 HG03704.hp2 HG04199.hp1 NA18953.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0010g0026 others(2): Show a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0010g0026 a0001c0001t0010g0061 a0001c0001t0010g0175	6	398	0.0151	-24	c.386 others(41): Show c.386+1755_386+1778delTTTTTTTTTTTTTTTTTTTTTTTT	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BBS9_chr7_33124564_33611069	33294290	CATCTATC others(17): Show CATCTATCTATCTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02683.hp1 HG01243.hp2 HG02683.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0016 a0001c0001 a0014c0016	a0001c0001t0009 a0014c0016t0002 a0001c0001t0009 a0014c0016t0002	a0001c0001t0009g0211 a0014c0016t0002g0268 a0001c0001t0009g0211 a0014c0016t0002g0268	2	268	0.0075	-24	c.101 others(45): Show c.1016+20375_1016+20398delATCTATCTATCTATCTATCTATCT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33542721	GTGTGTGT others(17): Show GTGTGTGTGTGTATATGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	268	0.0037	-24	c.252 others(43): Show c.2521+8547_2521+8570delGTGTGTGTGTATATGTGTGTGTAT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33560211	GGTATATG others(17): Show GGTATATGTAGTATATCTCTTTCCT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	268	0.0037	-24	c.252 others(45): Show c.2521+26037_2521+26060delTATATGTAGTATATCTCTTTCCTG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107638780	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0163 a0001c0001t0013g0163	1	222	0.0045	-24	c.-83 others(41): Show c.-83-7026_-83-7003delCACACACACACACACACACACACA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107769169	CATAGATA others(17): Show CATAGATAGATAGATAGATAGATAG	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0207 a0001c0001t0003g0207	1	222	0.0045	-24	c.907 others(41): Show c.907-3421_907-3398delTAGATAGATAGATAGATAGATAGA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107769207	TAGATAGA others(17): Show TAGATAGATAGATAGATAGATAGAC	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	222	0.0045	-24	c.907 others(41): Show c.907-3410_907-3387delATAGATAGATAGACAGATAGATAG	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BCAP31_chrX_153695492_153729387	153696518	GCCTGCGG others(17): Show GCCTGCGGGGACATTCTACTGTGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0137 a0001c0001t0005g0137	1	267	0.0038	-24	c.43 others(35): Show c.4395_*4418delAGCACAGTAGAATGTCCCCGCAGG	BCAP31	ENSG00000185825.17	transcript	ENST00000345046.12	protein_coding		3973		chrX	TogoVar
BCAS1_chr20_53938541_54075594	53941397	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01167.hp2 HG02559.hp1 others(2): Show HG01106.hp1 HG01167.hp2 HG02559.hp1 HG02897.hp2 HG02965.hp1	a0008 a0010 a0008 a0010	a0008c0010 a0010c0011 a0008c0010 a0010c0011	a0008c0010t0002 a0008c0010t0017 a0010c0011t0017 a0008c0010t0002 a0008c0010t0017 a0010c0011t0017	a0008c0010t0002g0243 a0008c0010t0017g0241 a0008c0010t0017g0242 others(2): Show a0008c0010t0002g0243 a0008c0010t0017g0241 a0008c0010t0017g0242 a0008c0010t0017g0260 a0010c0011t0017g0203	5	364	0.0137	-24	c.35 others(35): Show c.3501_*3524delGCGCACACACACACACACACACAC	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding		2143		chr20	TogoVar
BCAS3_chr17_60672851_61397831	60754680	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01952.hp1 HG02451.hp2 others(6): Show HG01256.hp2 HG01952.hp1 HG02451.hp2 HG02559.hp2 HG02809.hp2 HG03130.hp1 HG03139.hp2 HG03471.hp1 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0004 a0003c0001 a0001c0002 a0001c0004 a0003c0001	a0001c0002t0002 a0001c0004t0002 a0003c0001t0001 others(1): Show a0001c0002t0002 a0001c0004t0002 a0003c0001t0001 a0003c0001t0002	a0001c0002t0002g0064 a0001c0004t0002g0050 a0003c0001t0001g0007 others(6): Show a0001c0002t0002g0064 a0001c0004t0002g0050 a0003c0001t0001g0007 a0003c0001t0001g0021 a0003c0001t0001g0024 a0003c0001t0001g0025 a0003c0001t0001g0031 a0003c0001t0002g0029 a0003c0001t0002g0032	9	74	0.1216	-24	c.403 others(41): Show c.403+7439_403+7462delCACACACACACACACACACACACA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60825525	ATTATAAT others(17): Show ATTATAATAATTTATAAATAATTAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0058 a0001c0004t0001g0058	1	74	0.0135	-24	c.476 others(43): Show c.476+17475_476+17498delTATAATAATTTATAAATAATTATT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60920870	AAACAACA others(17): Show AAACAACAACAACAACAACAACAAC	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0026 a0003c0001t0001g0026	1	74	0.0135	-24	c.994 others(41): Show c.994-3508_994-3485delACAACAACAACAACAACAACAACA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61067271	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	74	0.0135	-24	c.203 others(43): Show c.2030-7647_2030-7624delGTATATATATATATATATATATAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61388959	ATCATTCA others(17): Show ATCATTCATTCATTCATTCATTCAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18906.hp2 HG02809.hp2 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0001 a0001c0002 a0003c0001	a0001c0002t0001 a0003c0001t0001 a0001c0002t0001 a0003c0001t0001	a0001c0002t0001g0065 a0003c0001t0001g0021 a0001c0002t0001g0065 a0003c0001t0001g0021	2	74	0.0270	-24	c.259 others(43): Show c.2594-2997_2594-2974delTCATTCATTCATTCATTCATTCAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS4_chr20_50790061_50882177	50843533	TACCTGCC others(17): Show TACCTGCCTGAGGCATGTGCTGTTC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02895.hp1 HG02897.hp2 others(8): Show HG02622.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03195.hp1 HG03209.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA19012.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0102 a0001c0001t0002g0105 a0001c0001t0002g0106 others(8): Show a0001c0001t0001g0102 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0192 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0005g0214 a0001c0003t0001g0133 a0002c0002t0001g0025	11	270	0.0407	-24	c.399 others(41): Show c.399+1667_399+1690delAGGCATGTGCTGTTCACCTGCCTG	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
BCKDHA_chr19_41392818_41430002	41395210	CTTGGTTA others(17): Show CTTGGTTAAGGCCGTATTTCCTGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02572.hp2 HG02818.hp2 others(4): Show HG01109.hp2 HG02572.hp2 HG02818.hp2 HG02976.hp2 HG03540.hp2 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0008 a0001c0014 a0001c0008 a0001c0014	a0001c0008t0001 a0001c0014t0001 a0001c0008t0001 a0001c0014t0001	a0001c0008t0001g0038 a0001c0008t0001g0261 a0001c0008t0001g0262 others(3): Show a0001c0008t0001g0038 a0001c0008t0001g0261 a0001c0008t0001g0262 a0001c0008t0001g0263 a0001c0008t0001g0264 a0001c0014t0001g0260	7	374	0.0187	-24	c.-26 others(35): Show c.-2617_-2594delTTGGTTAAGGCCGTATTTCCTGGG	BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding		2607		chr19	TogoVar
BCKDHA_chr19_41392818_41430002	41419746	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(239): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0014 a0001c0016 a0002c0003 a0002c0010 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0011t0001 a0001c0014t0001 a0001c0016t0001 a0002c0003t0001 a0002c0010t0001 a0003c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(187): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0003g0117 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0002t0001g0067 a0001c0002t0001g0102 a0001c0004t0001g0008 a0001c0004t0001g0103 a0001c0004t0001g0106 a0001c0004t0002g0105 a0001c0006t0001g0114 a0001c0006t0001g0115 a0001c0006t0001g0137 a0001c0006t0002g0013 a0001c0006t0002g0113 a0001c0007t0001g0037 a0001c0007t0001g0121 a0001c0007t0001g0236 a0001c0007t0001g0237 a0001c0007t0001g0238 a0001c0007t0001g0240 a0001c0008t0001g0038 a0001c0008t0001g0261 a0001c0008t0001g0262 a0001c0008t0001g0263 a0001c0008t0001g0264 a0001c0009t0001g0257 a0001c0009t0001g0258 a0001c0009t0001g0259 a0001c0011t0001g0249 a0001c0014t0001g0260 a0001c0016t0001g0104 a0002c0003t0001g0017 a0002c0003t0001g0032 a0002c0003t0001g0184 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0224 a0002c0003t0001g0251 a0002c0003t0001g0252 a0002c0010t0001g0185 a0003c0005t0001g0035 a0003c0005t0001g0036 a0003c0005t0001g0220 a0003c0005t0001g0222 a0003c0005t0001g0223 a0003c0005t0001g0243	242	374	0.6471	-24	c.646 others(39): Show c.646+460_646+483delTTTTTTTTTTTTTTTTTTTTTTTT	BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
BCKDHB_chr6_80101671_80351270	80349888	GGATATTT others(17): Show GGATATTTTGGTTATATACATAGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0267 a0001c0001t0006g0267	1	294	0.0034	-24	c.60 others(35): Show c.6085_*6108delGATATTTTGGTTATATACATAGTA	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding		3619		chr6	TogoVar
BCL11A_chr2_60452194_60558654	60467236	AGTGATGG others(17): Show AGTGATGGTGGTGGTAATGGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA20129.hp1 HG02818.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0065 a0001c0001t0033 a0001c0001t0065	a0001c0001t0033g0022 a0001c0001t0065g0251 a0001c0001t0033g0022 a0001c0001t0065g0251	2	262	0.0076	-24	c.487 others(41): Show c.487+1472_487+1495delCACCACCATTACCACCACCATCAC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467519	GTGGTGAT others(17): Show GTGGTGATGGTGATGGTGATGGTAC	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02630.hp2 HG03471.hp1 others(1): Show HG02129.hp2 HG02630.hp2 HG03471.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013	a0001c0001t0001g0032 a0001c0001t0003g0160 a0001c0001t0005g0227 others(1): Show a0001c0001t0001g0032 a0001c0001t0003g0160 a0001c0001t0005g0227 a0001c0001t0013g0250	4	262	0.0153	-24	c.487 others(41): Show c.487+1189_487+1212delGTACCATCACCATCACCATCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60507355	AAGGGAAG others(17): Show AAGGGAAGGGAAGGGAAGGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0251 a0001c0001t0065g0251	1	262	0.0038	-24	c.386 others(43): Show c.386-38546_386-38523delCCCTTCCCTTCCCTTCCCTTCCCT	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCL11B_chr14_99164287_99277197	99199681	TGTGCGCG others(17): Show TGTGCGCGCGCGCGCGCACGTGCAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG06807.hp1 HG03453.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0189 a0001c0001t0030g0003 a0001c0001t0001g0189 a0001c0001t0030g0003	2	350	0.0057	-24	c.641 others(43): Show c.641-23510_641-23487delGTGCACGTGCGCGCGCGCGCGCAC	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL2A1_chr15_79955892_79976196	79966797	AGAAGGCA others(17): Show AGAAGGCAGGAAGGCAGGAAAGCAG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp2 HG02818.hp2 others(8): Show HG02559.hp1 HG02622.hp2 HG02818.hp2 HG02895.hp1 HG02970.hp1 HG03098.hp1 HG03195.hp1 HG03453.hp1 HG03486.hp2 NA20129.hp2 NA20300.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0091 a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0091	11	436	0.0252	-24	c.420 others(41): Show c.420+3879_420+3902delCTGCTTTCCTGCCTTCCTGCCTTC	BCL2A1	ENSG00000140379.9	transcript	ENST00000267953.4	protein_coding	1/1			chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52111173	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	458	0.0022	-24	c.489 others(41): Show c.489+1041_489+1064delGTGTGTGTGTGTGTGTGTGTGTGT	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding	1/1			chr15	TogoVar
BCL2L11_chr2_111115914_111173444	111120979	TGCCGCCG others(17): Show TGCCGCCGCCGCCGCCGCCGCCGCC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0112 a0001c0001t0030g0112	1	398	0.0025	-24	c.-20 others(33): Show c.-204_-181delGCCGCCGCCGCCGCCGCCGCCGCC	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding	1/4	2725	INFO_REALIGN_3_PRIME	chr2	TogoVar

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