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
BASP1_chr5_17212631_17281834	17266814	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(103): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02451.hp2 HG02602.hp2 HG02683.hp1 HG02735.hp1 HG02818.hp2 HG02897.hp1 HG02976.hp1 HG03098.hp2 HG03195.hp1 HG03490.hp1 HG03492.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp2 HG04184.hp1 NA18612.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18949.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18977.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18992.hp1 NA18998.hp1 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19067.hp2 NA19072.hp2 NA19074.hp2 NA19081.hp1 NA19083.hp1 NA19085.hp1 NA19088.hp1 NA19089.hp2 NA19240.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0028 a0001c0001t0029 a0001c0001t0040 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0004c0007t0046	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(95): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0140 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0203 a0001c0001t0001g0215 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0252 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0306 a0001c0001t0001g0344 a0001c0001t0002g0003 a0001c0001t0002g0113 a0001c0001t0002g0184 a0001c0001t0002g0201 a0001c0001t0003g0111 a0001c0001t0003g0116 a0001c0001t0004g0005 a0001c0001t0004g0235 a0001c0001t0005g0324 a0001c0001t0005g0327 a0001c0001t0007g0145 a0001c0001t0007g0250 a0001c0001t0008g0012 a0001c0001t0008g0106 a0001c0001t0008g0108 a0001c0001t0008g0178 a0001c0001t0008g0179 a0001c0001t0008g0205 a0001c0001t0008g0213 a0001c0001t0008g0254 a0001c0001t0008g0261 a0001c0001t0008g0269 a0001c0001t0008g0284 a0001c0001t0009g0181 a0001c0001t0010g0004 a0001c0001t0010g0031 a0001c0001t0010g0293 a0001c0001t0011g0315 a0001c0001t0011g0316 a0001c0001t0011g0323 a0001c0001t0011g0325 a0001c0001t0011g0326 a0001c0001t0011g0337 a0001c0001t0011g0343 a0001c0001t0015g0136 a0001c0001t0015g0221 a0001c0001t0015g0260 a0001c0001t0016g0134 a0001c0001t0016g0212 a0001c0001t0021g0177 a0001c0001t0028g0001 a0001c0001t0028g0345 a0001c0001t0029g0001 a0001c0001t0029g0321 a0001c0001t0040g0066 a0001c0001t0045g0053 a0001c0001t0047g0186 a0001c0001t0048g0007 a0004c0007t0046g0313	106	370	0.2865	-11	c.-9- others(26): Show c.-9-8379_-9-8369delAAAAAAAAAAA	BASP1	ENSG00000176788.9	transcript	ENST00000322611.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
BAX_chr19_48949875_48966798	48958927	GATGGTGG others(4): Show GATGGTGGCACC	G G	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	418	0.0024	-11	c.370 others(28): Show c.370-1881_370-1871delTGGTGGCACCA	BAX	ENSG00000087088.21	transcript	ENST00000345358.12	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
BAZ1A_chr14_34747731_34880360	34759171	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02818.hp1 HG03471.hp2 others(2): Show HG02145.hp1 HG02818.hp1 HG03471.hp2 HG03579.hp1 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0006 a0001c0007t0005 a0001c0005t0006 a0001c0007t0005	a0001c0005t0006g0196 a0001c0005t0006g0198 a0001c0005t0006g0199 others(2): Show a0001c0005t0006g0196 a0001c0005t0006g0198 a0001c0005t0006g0199 a0001c0005t0006g0203 a0001c0007t0005g0135	5	380	0.0132	-11	c.424 others(28): Show c.4244-336_4244-326delAAAAAAAAAAA	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	24/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34779048	GGGTTTCA others(4): Show GGGTTTCACCAA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0195 a0001c0003t0005g0195	1	380	0.0026	-11	c.223 others(30): Show c.2236+1127_2236+1137delTTGGTGAAACC	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	17/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34825447	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0123 a0001c0002t0002g0123	1	380	0.0026	-11	c.536 others(26): Show c.536+555_536+565delTTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	4/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34872913	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00609.hp2 others(67): Show HG00140.hp2 HG00558.hp1 HG00609.hp2 HG00642.hp2 HG00738.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01515.hp1 HG01975.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02132.hp2 HG02683.hp1 HG02723.hp2 HG02738.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp2 HG06807.hp1 NA18906.hp2 NA18940.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18982.hp1 NA18989.hp2 NA19001.hp1 NA19010.hp2 NA19012.hp2 NA19056.hp1 NA19058.hp2 NA19065.hp2 NA19066.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0002t0001g0102 a0001c0002t0001g0124 a0001c0002t0001g0125 others(67): Show a0001c0002t0001g0102 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0139 a0001c0002t0003g0060	70	380	0.1842	-11	c.113 others(28): Show c.113+1568_113+1578delTTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	2/26			chr14	TogoVar
BAZ1B_chr7_73435406_73527293	73456937	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18906.hp2 HG02055.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0166 a0001c0001t0002g0029 a0001c0001t0002g0166	2	200	0.0100	-11	c.343 others(30): Show c.3432+2588_3432+2598delTTTTTTTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	13/19			chr7	TogoVar
BAZ1B_chr7_73435406_73527293	73524117	AGGCGGGG others(4): Show AGGCGGGGGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0197 a0001c0003t0006g0197	1	200	0.0050	-11	c.-21 others(22): Show c.-2195_-2185delCCCCCCCCGCC	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding		1825		chr7	TogoVar
BAZ2B_chr2_159313979_159621548	159316689	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0007 a0006c0006t0001g0007	1	216	0.0046	-11	c.35 others(22): Show c.3565_*3575delTTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding		2289		chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159376753	AATTTTTA others(4): Show AATTTTTAAGAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	216	0.0046	-11	c.400 others(30): Show c.4006-2011_4006-2001delGTCTTAAAAAT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	25/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159578420	TACTTCTG others(4): Show TACTTCTGTATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp2 HG02895.hp2 others(9): Show HG02109.hp2 HG02630.hp2 HG02895.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03516.hp1 HG03540.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0020 a0002c0002 others(1): Show a0001c0001 a0001c0020 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0020t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0020t0001 a0002c0002t0001 a0002c0007t0001	a0001c0001t0001g0047 a0001c0001t0001g0095 a0001c0001t0001g0096 others(9): Show a0001c0001t0001g0047 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0020t0001g0046 a0002c0002t0001g0043 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0092 a0002c0007t0001g0045	12	216	0.0556	-11	c.-45 others(30): Show c.-45-22566_-45-22556delTATACAGAAGT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159590187	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01496.hp1 HG02004.hp2 others(1): Show HG01192.hp2 HG01496.hp1 HG02004.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0193 others(1): Show a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0193 a0002c0002t0002g0211	4	216	0.0185	-11	c.-46 others(30): Show c.-46+26044_-46+26054delTTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159596863	ATTCATAT others(4): Show ATTCATATCTTT	A A	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0018 a0018	a0018c0032 a0018c0032	a0018c0032t0002 a0018c0032t0002	a0018c0032t0002g0154 a0018c0032t0002g0154	1	216	0.0046	-11	c.-46 others(30): Show c.-46+19368_-46+19378delAAAGATATGAA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
BBOF1_chr14_74014349_74071092	74035584	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0007 a0004c0007t0003g0007	1	386	0.0026	-11	c.495 others(28): Show c.495+1431_495+1441delTTTTTTTTTTT	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74037274	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0320 a0001c0001t0002g0320	1	386	0.0026	-11	c.495 others(28): Show c.495+3120_495+3130delTTTTTTTTTTT	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOX1_chr11_27035815_27132809	27088068	AGTATATT others(4): Show AGTATATTATAG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA20129.hp2 HG03139.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0273 a0001c0003t0005g0274 a0001c0003t0005g0273 a0001c0003t0005g0274	2	318	0.0063	-11	c.335 others(28): Show c.335-5097_335-5087delATATTATAGGT	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBS5_chr2_169474494_169511655	169489851	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02258.hp1 HG02615.hp1 others(25): Show HG01106.hp2 HG02258.hp1 HG02615.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG03098.hp2 HG03139.hp1 HG03927.hp1 NA18522.hp1 NA18522.hp2 NA18941.hp2 NA18942.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp2 NA18977.hp1 NA18980.hp1 NA18981.hp1 NA18984.hp2 NA18985.hp2 NA18990.hp2 NA19065.hp1 NA19080.hp1 NA19087.hp1 NA19088.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 others(5): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0033 a0001c0001t0041 a0001c0002t0008 a0001c0002t0034 a0002c0005t0002	a0001c0001t0002g0009 a0001c0001t0002g0033 a0001c0001t0002g0034 others(17): Show a0001c0001t0002g0009 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0083 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0007g0039 a0001c0001t0010g0056 a0001c0001t0010g0062 a0001c0001t0010g0063 a0001c0001t0033g0084 a0001c0001t0041g0108 a0001c0002t0008g0045 a0001c0002t0008g0046 a0001c0002t0008g0215 a0001c0002t0034g0045 a0002c0005t0002g0103	28	398	0.0704	-11	c.386 others(28): Show c.386+1768_386+1778delTTTTTTTTTTT	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BBS7_chr4_121819329_121875474	121868684	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02451.hp2 HG02622.hp2 others(4): Show HG01069.hp2 HG02451.hp2 HG02622.hp2 HG02809.hp1 HG03041.hp1 HG03540.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0093 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095	7	374	0.0187	-11	c.37- others(24): Show c.37-649_37-639delTTTTTTTTTTT	BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding	1/18			chr4	TogoVar
BBS9_chr7_33124564_33611069	33323833	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0003 a0002c0002t0003g0003	1	268	0.0037	-11	c.101 others(32): Show c.1017-12596_1017-12586delTTTTTTTTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33492203	GAAAAAAA others(4): Show GAAAAAAAAAAC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 NA19087.hp1 HG00423.hp1 HG00558.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0157 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0157	3	268	0.0112	-11	c.211 others(32): Show c.2116-13237_2116-13227delAAAAAAAAAAC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107566175	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp2 HG02809.hp2 others(4): Show HG02451.hp1 HG02622.hp2 HG02809.hp2 HG03041.hp2 HG03098.hp2 NA18522.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0004c0005 a0001c0001 a0001c0007 a0004c0005	a0001c0001t0002 a0001c0001t0006 a0001c0007t0014 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0007t0014 a0004c0005t0001 a0004c0005t0002	a0001c0001t0002g0048 a0001c0001t0006g0046 a0001c0001t0006g0049 others(4): Show a0001c0001t0002g0048 a0001c0001t0006g0046 a0001c0001t0006g0049 a0001c0001t0006g0188 a0001c0007t0014g0047 a0004c0005t0001g0064 a0004c0005t0002g0161	7	222	0.0315	-11	c.-84 others(30): Show c.-84+39794_-84+39804delAAAAAAAAAAA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107575024	ACAAAAAG others(4): Show ACAAAAAGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	222	0.0045	-11	c.-84 others(30): Show c.-84+48630_-84+48640delAAAGGTGGCAA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107584672	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03195.hp2 HG01081.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0214 a0001c0001t0002g0216	2	222	0.0090	-11	c.-84 others(30): Show c.-84+58300_-84+58310delTTTTTTTTTTT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107613941	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0023 a0001c0001t0020g0023	1	222	0.0045	-11	c.-83 others(30): Show c.-83-31876_-83-31866delTTTTTTTTTTT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107616005	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03540.hp2 HG02055.hp2 HG03540.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0006 a0003c0003 a0005c0006	a0003c0003t0033 a0005c0006t0048 a0003c0003t0033 a0005c0006t0048	a0003c0003t0033g0005 a0005c0006t0048g0004 a0003c0003t0033g0005 a0005c0006t0048g0004	2	222	0.0090	-11	c.-83 others(30): Show c.-83-29804_-83-29794delTTTTTTTTTTT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107669281	TATTTGAC others(4): Show TATTTGACTTGC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG01070.hp2 others(2): Show HG00733.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0083 others(2): Show a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0083 a0001c0001t0005g0194 a0001c0001t0005g0195	5	222	0.0225	-11	c.-10 others(30): Show c.-10+23375_-10+23385delTTGACTTGCAT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107766306	CAACCAAG others(4): Show CAACCAAGGAGA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0002 a0008c0012t0002	a0008c0012t0002g0183 a0008c0012t0002g0183	1	222	0.0045	-11	c.907 others(28): Show c.907-6319_907-6309delCCAAGGAGAAA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BCAM_chr19_44804103_44826421	44815987	GAGCGACA others(4): Show GAGCGACAGAGA	G G	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	410	0.0024	-11	c.107 others(30): Show c.1078+1229_1078+1239delGCGACAGAGAA	BCAM	ENSG00000187244.12	transcript	ENST00000270233.12	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BCAN_chr1_156637117_156664528	156641846	AGCGAACG others(4): Show AGCGAACGCTGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG02723.hp1 others(1): Show HG02280.hp2 HG02630.hp2 HG02723.hp1 HG03225.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0013 a0002c0006t0001g0058 a0002c0006t0001g0013 a0002c0006t0001g0058	4	420	0.0095	-11	c.-43 others(20): Show c.-437_-427delGCGAACGCTGG	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding		270		chr1	TogoVar
BCAS1_chr20_53938541_54075594	54017399	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp1 others(77): Show HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01099.hp1 HG01346.hp1 HG01516.hp2 HG01934.hp2 HG01943.hp2 HG02074.hp2 HG02129.hp1 HG02280.hp2 HG02615.hp2 HG02723.hp2 HG03225.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG03834.hp2 HG04184.hp1 HG04184.hp2 NA18939.hp1 NA18940.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18981.hp2 NA18983.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp2 NA19054.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp1	a0002 a0003 a0005 others(7): Show a0002 a0003 a0005 a0009 a0015 a0018 a0022 a0023 a0028 a0029	a0002c0002 a0003c0003 a0003c0028 others(9): Show a0002c0002 a0003c0003 a0003c0028 a0005c0005 a0005c0018 a0009c0009 a0015c0015 a0018c0020 a0022c0027 a0023c0029 a0028c0040 a0029c0041	a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 others(30): Show a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0003c0003t0007 a0003c0003t0008 a0003c0003t0009 a0003c0003t0011 a0003c0003t0013 a0003c0003t0014 a0003c0003t0019 a0003c0003t0024 a0003c0003t0028 a0003c0003t0044 a0003c0003t0045 a0003c0028t0013 a0005c0005t0001 a0005c0005t0002 a0005c0005t0003 a0005c0005t0006 a0005c0005t0052 a0005c0005t0056 a0005c0018t0001 a0009c0009t0011 a0009c0009t0035 a0015c0015t0027 a0015c0015t0046 a0018c0020t0005 a0022c0027t0020 a0023c0029t0005 a0028c0040t0028 a0029c0041t0060	a0002c0002t0001g0127 a0003c0003t0001g0311 a0003c0003t0002g0145 others(76): Show a0002c0002t0001g0127 a0003c0003t0001g0311 a0003c0003t0002g0145 a0003c0003t0002g0258 a0003c0003t0004g0167 a0003c0003t0004g0206 a0003c0003t0005g0013 a0003c0003t0005g0021 a0003c0003t0005g0022 a0003c0003t0005g0033 a0003c0003t0005g0036 a0003c0003t0005g0039 a0003c0003t0005g0044 a0003c0003t0005g0047 a0003c0003t0005g0051 a0003c0003t0005g0056 a0003c0003t0005g0057 a0003c0003t0005g0060 a0003c0003t0005g0061 a0003c0003t0005g0065 a0003c0003t0005g0067 a0003c0003t0007g0001 a0003c0003t0007g0035 a0003c0003t0008g0072 a0003c0003t0009g0182 a0003c0003t0011g0055 a0003c0003t0013g0017 a0003c0003t0013g0045 a0003c0003t0013g0048 a0003c0003t0013g0049 a0003c0003t0014g0312 a0003c0003t0014g0340 a0003c0003t0019g0081 a0003c0003t0019g0082 a0003c0003t0024g0237 a0003c0003t0028g0016 a0003c0003t0028g0032 a0003c0003t0044g0041 a0003c0003t0045g0011 a0003c0028t0013g0018 a0005c0005t0001g0086 a0005c0005t0001g0103 a0005c0005t0001g0108 a0005c0005t0001g0204 a0005c0005t0001g0274 a0005c0005t0001g0276 a0005c0005t0001g0282 a0005c0005t0002g0102 a0005c0005t0003g0104 a0005c0005t0006g0121 a0005c0005t0006g0214 a0005c0005t0006g0264 a0005c0005t0006g0273 a0005c0005t0006g0275 a0005c0005t0006g0277 a0005c0005t0006g0278 a0005c0005t0006g0279 a0005c0005t0006g0280 a0005c0005t0006g0281 a0005c0005t0006g0283 a0005c0005t0052g0268 a0005c0005t0056g0267 a0005c0018t0001g0085 a0005c0018t0001g0118 a0009c0009t0011g0014 a0009c0009t0011g0031 a0009c0009t0011g0038 a0009c0009t0011g0040 a0009c0009t0011g0046 a0009c0009t0035g0034 a0015c0015t0027g0037 a0015c0015t0027g0058 a0015c0015t0046g0066 a0018c0020t0005g0062 a0018c0020t0005g0063 a0022c0027t0020g0227 a0023c0029t0005g0012 a0028c0040t0028g0006 a0029c0041t0060g0088	80	364	0.2198	-11	c.723 others(30): Show c.723+10982_723+10992delAAAAAAAAAAA	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	54039702	CTGATAAT others(4): Show CTGATAATAATG	C C	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0098 a0002c0002t0022g0098	1	364	0.0028	-11	c.143 others(30): Show c.143-10741_143-10731delCATTATTATCA	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	3/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	54065153	TATCTATC others(4): Show TATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03669.hp1 HG04199.hp2 HG02602.hp1 HG03669.hp1 HG04199.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0003c0003t0002 a0001c0001t0001 a0001c0001t0004 a0003c0003t0002	a0001c0001t0001g0257 a0001c0001t0004g0351 a0003c0003t0002g0258 a0001c0001t0001g0257 a0001c0001t0004g0351 a0003c0003t0002g0258	3	364	0.0082	-11	c.-6+ others(26): Show c.-6+5269_-6+5279delGATAGATAGAT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	1/12			chr20	TogoVar
BCAS2_chr1_114562557_114586615	114573122	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	414	0.0024	-11	c.420 others(28): Show c.420-2383_420-2373delTTTTTTTTTTT	BCAS2	ENSG00000116752.6	transcript	ENST00000369541.4	protein_coding	4/6			chr1	TogoVar
BCAS2_chr1_114562557_114586615	114581999	GCTTACTC others(4): Show GCTTACTCCCAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01106.hp1 others(5): Show HG00642.hp2 HG00738.hp2 HG01106.hp1 HG01258.hp1 HG01261.hp2 HG01978.hp1 HG01993.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0057 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0057 a0001c0001t0002g0069	8	414	0.0193	-11	c.-41 others(20): Show c.-419_-409delGTGGGAGTAAG	BCAS2	ENSG00000116752.6	transcript	ENST00000369541.4	protein_coding		385		chr1	TogoVar
BCAS3_chr17_60672851_61397831	60683505	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02809.hp2 others(2): Show HG01891.hp2 HG02145.hp1 HG02809.hp2 HG03130.hp2 NA20300.hp2	a0002 a0003 a0002 a0003	a0002c0005 a0002c0007 a0003c0001 a0002c0005 a0002c0007 a0003c0001	a0002c0005t0001 a0002c0007t0001 a0003c0001t0001 a0002c0005t0001 a0002c0007t0001 a0003c0001t0001	a0002c0005t0001g0020 a0002c0007t0001g0004 a0003c0001t0001g0002 others(2): Show a0002c0005t0001g0020 a0002c0007t0001g0004 a0003c0001t0001g0002 a0003c0001t0001g0003 a0003c0001t0001g0021	5	74	0.0676	-11	c.84- others(24): Show c.84-448_84-438delTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60715126	CTCTTTCT others(4): Show CTCTTTCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01891.hp1 HG01952.hp2 others(13): Show HG01099.hp1 HG01891.hp1 HG01952.hp2 HG02615.hp1 HG02809.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp1 NA19030.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0004 a0002c0003 others(3): Show a0001c0002 a0001c0004 a0002c0003 a0003c0001 a0003c0010 a0004c0009	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0002c0003t0001 a0003c0001t0001 a0003c0001t0002 a0003c0010t0002 a0004c0009t0001	a0001c0002t0001g0056 a0001c0002t0002g0053 a0001c0002t0002g0054 others(13): Show a0001c0002t0001g0056 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0057 a0001c0004t0001g0034 a0001c0004t0001g0043 a0001c0004t0001g0045 a0001c0004t0001g0047 a0001c0004t0001g0049 a0001c0004t0001g0058 a0001c0004t0002g0044 a0002c0003t0001g0052 a0003c0001t0001g0028 a0003c0001t0002g0022 a0003c0010t0002g0023 a0004c0009t0001g0055	16	74	0.2162	-11	c.321 others(28): Show c.321+5803_321+5813delCTTTCTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60723711	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01891.hp1 HG01952.hp2 others(13): Show HG01099.hp1 HG01891.hp1 HG01952.hp2 HG02615.hp1 HG02809.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp1 NA19030.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0004 a0002c0003 others(3): Show a0001c0002 a0001c0004 a0002c0003 a0003c0001 a0003c0010 a0004c0009	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0002c0003t0001 a0003c0001t0001 a0003c0001t0002 a0003c0010t0002 a0004c0009t0001	a0001c0002t0001g0056 a0001c0002t0002g0053 a0001c0002t0002g0054 others(13): Show a0001c0002t0001g0056 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0057 a0001c0004t0001g0034 a0001c0004t0001g0043 a0001c0004t0001g0045 a0001c0004t0001g0047 a0001c0004t0001g0049 a0001c0004t0001g0058 a0001c0004t0002g0044 a0002c0003t0001g0052 a0003c0001t0001g0028 a0003c0001t0002g0022 a0003c0010t0002g0023 a0004c0009t0001g0055	16	74	0.2162	-11	c.321 others(30): Show c.321+14401_321+14411delTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60724420	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0074 a0002c0005t0002g0074	1	74	0.0135	-11	c.321 others(30): Show c.321+15107_321+15117delAAAAAAAAAAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60770400	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02083.hp1 HG02083.hp2 others(14): Show HG01891.hp2 HG02083.hp1 HG02083.hp2 HG02451.hp1 HG02818.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp2 NA18906.hp2 NA19240.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0002c0005 others(2): Show a0001c0002 a0001c0004 a0002c0005 a0002c0007 a0003c0001	a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0002c0005t0001 a0002c0007t0001 a0003c0001t0001	a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 others(14): Show a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0002g0001 a0001c0002t0002g0064 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0004t0002g0072 a0002c0005t0001g0018 a0002c0005t0001g0051 a0002c0007t0001g0004 a0003c0001t0001g0009 a0003c0001t0001g0011	17	74	0.2297	-11	c.403 others(30): Show c.403+23148_403+23158delTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61042891	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02818.hp2 others(7): Show HG02145.hp2 HG02451.hp1 HG02818.hp2 HG02897.hp1 HG02970.hp2 HG03139.hp1 HG03209.hp2 HG03579.hp2 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0002t0002 a0001c0008t0002 a0001c0002t0001 a0001c0002t0002 a0001c0008t0002	a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0001g0065 others(7): Show a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0002g0001 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0008t0002g0062	10	74	0.1351	-11	c.202 others(30): Show c.2029+2013_2029+2023delAAAAAAAAAAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61059063	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03041.hp1 HG02486.hp2 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0042 a0001c0004t0001g0045 a0001c0002t0001g0042 a0001c0004t0001g0045	2	74	0.0270	-11	c.203 others(32): Show c.2030-15830_2030-15820delTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61193757	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0074 a0002c0005t0002g0074	1	74	0.0135	-11	c.242 others(34): Show c.2425+109211_2425+109221delAAAAAAAAAAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS4_chr20_50790061_50882177	50834292	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02293.hp1 HG02273.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0087 a0001c0001t0003g0073 a0001c0001t0001g0087 a0001c0001t0003g0073	2	270	0.0074	-11	c.264 others(28): Show c.264+3923_264+3933delTTTTTTTTTTT	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
BCAS4_chr20_50790061_50882177	50863892	GCTCTGTC others(4): Show GCTCTGTCCTGC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00621.hp1 others(77): Show HG00423.hp1 HG00423.hp2 HG00621.hp1 HG01074.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02015.hp1 HG02055.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03831.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18950.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0003c0005 a0005c0007 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0003c0005t0002 a0003c0005t0006 a0005c0007t0002 a0006c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0079 a0001c0001t0001g0080 others(77): Show a0001c0001t0001g0001 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0107 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0179 a0001c0001t0001g0198 a0001c0001t0002g0017 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0127 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0192 a0001c0001t0002g0204 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0261 a0001c0001t0002g0270 a0001c0001t0003g0065 a0001c0001t0003g0223 a0001c0001t0003g0227 a0001c0001t0004g0172 a0001c0001t0004g0235 a0001c0001t0005g0214 a0001c0001t0006g0077 a0001c0001t0010g0003 a0001c0003t0001g0133 a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0002g0015 a0001c0004t0002g0016 a0001c0004t0004g0007 a0002c0002t0001g0047 a0002c0002t0001g0063 a0002c0002t0001g0069 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0032 a0002c0002t0002g0041 a0002c0002t0002g0051 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0057 a0003c0005t0002g0078 a0003c0005t0002g0128 a0003c0005t0006g0082 a0003c0005t0006g0084 a0003c0005t0006g0085 a0005c0007t0002g0150 a0006c0009t0001g0010	80	270	0.2963	-11	c.400 others(30): Show c.400-12593_400-12583delCTCTGTCCTGC	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	4/4			chr20	TogoVar
BCAT1_chr12_24805024_24954101	24887356	GTTAGATC others(4): Show GTTAGATCTTAC	G G	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	322	0.0031	-11	c.280 others(28): Show c.280-5956_280-5946delGTAAGATCTAA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24952644	AAAAAAAA others(4): Show AAAAAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	322	0.0031	-11	c.-37 others(22): Show c.-3723_-3713delCTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding		3544		chr12	TogoVar
BCAT2_chr19_48790064_48816029	48809066	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02965.hp1 HG03041.hp2 HG02647.hp1 HG02965.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0163 a0001c0001t0001g0038 a0001c0001t0001g0163	3	408	0.0074	-11	c.24+ others(26): Show c.24+1907_24+1917delTTTTTTTTTTT	BCAT2	ENSG00000105552.15	transcript	ENST00000316273.11	protein_coding	1/10			chr19	TogoVar
BCDIN3D_chr12_49831043_49848106	49846485	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02886.hp1 HG02615.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	2	420	0.0048	-11	c.-34 others(22): Show c.-3409_-3399delAAAAAAAAAAA	BCDIN3D	ENSG00000186666.6	transcript	ENST00000333924.6	protein_coding		3380		chr12	TogoVar
BCHE_chr3_165767904_165842423	165840325	TAGATAGA others(4): Show TAGATAGATAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG02056.hp1 HG03239.hp1 others(3): Show HG00673.hp1 HG02056.hp1 HG03239.hp1 HG03490.hp2 NA18906.hp1 NA18968.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0005c0007t0001 a0001c0001t0001 a0001c0001t0003 a0005c0007t0001	a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 others(3): Show a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0003g0138 a0005c0007t0001g0186	6	304	0.0197	-11	c.-30 others(22): Show c.-3031_-3021delTCTATCTATCT	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding		2903		chr3	TogoVar
BCKDHA_chr19_41392818_41430002	41421104	GAGGGGGC others(4): Show GAGGGGGCATTT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	374	0.0027	-11	c.647 others(28): Show c.647-1048_647-1038delAGGGGGCATTT	BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr19	TogoVar

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