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
BAZ2A_chr12_56590596_56635326	56597637	GACACACA others(3): Show GACACACACAC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00738.hp2 others(21): Show HG00140.hp1 HG00280.hp2 HG00738.hp2 HG01123.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG02622.hp2 HG02630.hp1 HG02818.hp2 HG02896.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp2 HG03516.hp1 NA18522.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0004 a0001c0001 a0001c0007 a0002c0004	a0001c0001t0006 a0001c0001t0013 a0001c0001t0036 others(4): Show a0001c0001t0006 a0001c0001t0013 a0001c0001t0036 a0001c0001t0075 a0001c0001t0083 a0001c0007t0035 a0002c0004t0024	a0001c0001t0006g0023 a0001c0001t0006g0024 a0001c0001t0006g0025 others(18): Show a0001c0001t0006g0023 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0006g0258 a0001c0001t0006g0261 a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0001t0013g0265 a0001c0001t0013g0266 a0001c0001t0013g0267 a0001c0001t0013g0268 a0001c0001t0013g0269 a0001c0001t0036g0253 a0001c0001t0036g0260 a0001c0001t0075g0259 a0001c0001t0083g0270 a0001c0007t0035g0254 a0001c0007t0035g0255 a0002c0004t0024g0256 a0002c0004t0024g0257 a0002c0004t0024g0264	24	316	0.0760	-10	c.97 others(19): Show c.971_*980delGTGTGTGTGT	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	971		chr12	TogoVar
BAZ2B_chr2_159313979_159621548	159317000	CAATAAAA others(3): Show CAATAAAATAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00609.hp2 others(27): Show HG00099.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG01496.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02257.hp2 HG02280.hp2 HG02615.hp2 HG02683.hp1 HG02895.hp1 HG02965.hp1 HG03209.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG04184.hp1 NA18949.hp1 NA18960.hp2 NA18998.hp1 NA19043.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp2 NA19083.hp1 NA20129.hp1	a0001 a0005 a0006 others(4): Show a0001 a0005 a0006 a0009 a0010 a0013 a0019	a0001c0001 a0001c0019 a0001c0020 others(7): Show a0001c0001 a0001c0019 a0001c0020 a0001c0029 a0005c0005 a0006c0006 a0009c0015 a0010c0030 a0013c0022 a0019c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0019t0002 a0001c0020t0001 a0001c0029t0001 a0005c0005t0001 a0006c0006t0001 a0006c0006t0002 a0009c0015t0002 a0010c0030t0001 a0013c0022t0001 a0019c0017t0001	a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0024 others(27): Show a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0001g0102 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0002g0141 a0001c0001t0002g0148 a0001c0001t0002g0166 a0001c0001t0002g0172 a0001c0001t0002g0176 a0001c0001t0002g0195 a0001c0001t0007g0086 a0001c0001t0009g0132 a0001c0019t0002g0136 a0001c0020t0001g0046 a0001c0029t0001g0112 a0005c0005t0001g0034 a0006c0006t0001g0007 a0006c0006t0002g0145 a0006c0006t0002g0149 a0009c0015t0002g0168 a0010c0030t0001g0039 a0013c0022t0001g0027 a0019c0017t0001g0006	30	216	0.1389	-10	c.32 others(21): Show c.3255_*3264delTTATTTTATT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding		1978		chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159324625	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01109.hp2 others(4): Show HG00140.hp1 HG00140.hp2 HG01109.hp2 HG01169.hp1 HG01258.hp1 HG01978.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0002g0142 others(4): Show a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0002g0142 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0197	7	216	0.0324	-10	c.635 others(27): Show c.6353+176_6353+185delGTGTGTGTGT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	36/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159346617	AAGTGGAG others(3): Show AAGTGGAGGTT	A A	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0082 a0003c0003t0001g0082	1	216	0.0046	-10	c.545 others(27): Show c.5454+859_5454+868delAACCTCCACT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	31/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159368858	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18985.hp2 NA18986.hp1 others(1): Show HG00673.hp1 NA18985.hp2 NA18986.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0198 a0001c0001t0002g0199 others(1): Show a0001c0001t0002g0176 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200	4	216	0.0185	-10	c.421 others(29): Show c.4213+4177_4213+4186delTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	27/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159428862	GCTTTTAC others(3): Show GCTTTTACTGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	216	0.0046	-10	c.225 others(27): Show c.2255+328_2255+337delACAGTAAAAG	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	11/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159574142	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	216	0.0046	-10	c.-45 others(29): Show c.-45-18287_-45-18278delGTGTGTGTGT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159590187	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG01106.hp1 others(1): Show HG00738.hp2 HG00741.hp1 HG01106.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0190 a0001c0001t0002g0191 others(1): Show a0001c0001t0002g0161 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192	4	216	0.0185	-10	c.-46 others(29): Show c.-46+26045_-46+26054delTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
BBOF1_chr14_74014349_74071092	74037274	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG02486.hp1 others(9): Show HG01109.hp2 HG01243.hp1 HG02486.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03195.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp2 NA18906.hp1 NA18906.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0006 a0003c0003 a0005c0006	a0003c0003t0003 a0005c0006t0001 a0005c0006t0006 a0003c0003t0003 a0005c0006t0001 a0005c0006t0006	a0003c0003t0003g0189 a0005c0006t0001g0131 a0005c0006t0001g0132 others(9): Show a0003c0003t0003g0189 a0005c0006t0001g0131 a0005c0006t0001g0132 a0005c0006t0001g0133 a0005c0006t0001g0134 a0005c0006t0001g0135 a0005c0006t0001g0136 a0005c0006t0001g0137 a0005c0006t0006g0193 a0005c0006t0006g0194 a0005c0006t0006g0195 a0005c0006t0006g0196	12	386	0.0311	-10	c.495 others(27): Show c.495+3121_495+3130delTTTTTTTTTT	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74062051	GAAAAAAA others(3): Show GAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0315 a0001c0001t0002g0316	2	386	0.0052	-10	c.157 others(29): Show c.1579-2617_1579-2608delAAAAAAAAAA	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOX1_chr11_27035815_27132809	27085555	ATCTCTCT others(3): Show ATCTCTCTCTC	A A	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	318	0.0031	-10	c.335 others(27): Show c.335-7581_335-7572delCTCTCTCTCT	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBOX1_chr11_27035815_27132809	27128344	CTCGTCTA others(3): Show CTCGTCTAATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	318	0.0031	-10	c.89 others(19): Show c.892_*901delTCGTCTAATT	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding		536		chr11	TogoVar
BBS10_chr12_76339474_76353415	76353322	GTCCTGGG others(3): Show GTCCTGGGCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	-10	c.-49 others(21): Show c.-4974_-4965delTGGCCCAGGA	BBS10	ENSG00000179941.9	transcript	ENST00000650064.2	protein_coding		4908		chr12	TogoVar
BBS12_chr4_122727704_122749939	122733376	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02735.hp1 HG02965.hp1 others(1): Show HG02630.hp2 HG02735.hp1 HG02965.hp1 HG03927.hp2	a0002 a0004 a0012 a0002 a0004 a0012	a0002c0002 a0004c0004 a0012c0017 a0002c0002 a0004c0004 a0012c0017	a0002c0002t0002 a0004c0004t0001 a0012c0017t0001 a0002c0002t0002 a0004c0004t0001 a0012c0017t0001	a0002c0002t0002g0049 a0004c0004t0001g0056 a0012c0017t0001g0051 a0002c0002t0002g0049 a0004c0004t0001g0056 a0012c0017t0001g0051	4	364	0.0110	-10	c.-11 others(25): Show c.-11+532_-11+541delCACACACACA	BBS12	ENSG00000181004.10	transcript	ENST00000314218.8	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr4	TogoVar
BBS1_chr11_66505635_66538598	66512020	GTGTATAT others(3): Show GTGTATATATA	G G	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA20300.hp2 NA19067.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0239 a0001c0001t0002g0240	2	386	0.0052	-10	c.159 others(25): Show c.159+805_159+814delATATATATGT	BBS1	ENSG00000174483.20	transcript	ENST00000318312.12	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBS2_chr16_56479385_56525024	56486748	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0042 a0002c0002t0002g0042	1	398	0.0025	-10	c.191 others(29): Show c.1911-1020_1911-1011delAAAAAAAAAA	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding	15/16			chr16	TogoVar
BBS2_chr16_56479385_56525024	56495766	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02717.hp2 others(8): Show HG02258.hp1 HG02280.hp2 HG02717.hp2 HG02818.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp2 HG03516.hp2 NA18522.hp2 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0272 others(6): Show a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0272 a0003c0003t0003g0273 a0003c0003t0003g0274 a0003c0003t0003g0275 a0003c0003t0003g0276 a0003c0003t0003g0277 a0003c0003t0003g0278	11	398	0.0276	-10	c.191 others(29): Show c.1910+1191_1910+1200delCACACACACA	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding	15/16			chr16	TogoVar
BBS4_chr15_72681207_72743473	72704882	AAAAACAA others(3): Show AAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	398	0.0025	-10	c.77- others(25): Show c.77-4798_77-4789delCAAAACAAAA	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72729161	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0232 a0002c0002t0001g0232	1	398	0.0025	-10	c.643 others(25): Show c.643-439_643-430delTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS5_chr2_169474494_169511655	169489851	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG03579.hp1 others(3): Show HG02055.hp1 HG02145.hp1 HG03579.hp1 HG03579.hp2 NA19064.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0008 a0001c0001t0002 a0001c0002t0008	a0001c0001t0002g0092 a0001c0001t0002g0102 a0001c0002t0008g0212 others(3): Show a0001c0001t0002g0092 a0001c0001t0002g0102 a0001c0002t0008g0212 a0001c0002t0008g0213 a0001c0002t0008g0214 a0001c0002t0008g0216	6	398	0.0151	-10	c.386 others(27): Show c.386+1769_386+1778delTTTTTTTTTT	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BBS7_chr4_121819329_121875474	121819939	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0237	1	374	0.0027	-10	c.59 others(21): Show c.5911_*5920delAAAAAAAAAA	BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding		4389		chr4	TogoVar
BBS7_chr4_121819329_121875474	121868684	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01243.hp2 HG02015.hp2 others(5): Show HG01099.hp1 HG01243.hp2 HG02015.hp2 HG02615.hp1 HG02895.hp2 NA18522.hp2 NA18747.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0099 others(4): Show a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0099 a0001c0001t0003g0025 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0006g0096	8	374	0.0214	-10	c.37- others(23): Show c.37-648_37-639delTTTTTTTTTT	BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding	1/18			chr4	TogoVar
BBS9_chr7_33124564_33611069	33184097	CAGAGAGA others(3): Show CAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0171 a0001c0001t0018g0171	1	268	0.0037	-10	c.442 others(27): Show c.442+6521_442+6530delAGAGAGAGAG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33294343	ATCTATCT others(3): Show ATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0060 a0003c0003t0001g0060	1	268	0.0037	-10	c.101 others(31): Show c.1016+20391_1016+20400delATCTATCTCT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33368577	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	268	0.0037	-10	c.178 others(27): Show c.1789+746_1789+755delACACACACAC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33392700	CCTTCAAT others(3): Show CCTTCAATTTA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp1 HG02809.hp1 others(6): Show HG02559.hp1 HG02572.hp1 HG02809.hp1 HG02818.hp1 HG03239.hp1 HG04204.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0010 a0001c0023 a0004c0004 others(1): Show a0001c0010 a0001c0023 a0004c0004 a0004c0022	a0001c0010t0001 a0001c0023t0001 a0004c0004t0001 others(1): Show a0001c0010t0001 a0001c0023t0001 a0004c0004t0001 a0004c0022t0001	a0001c0010t0001g0084 a0001c0010t0001g0167 a0001c0023t0001g0168 others(6): Show a0001c0010t0001g0084 a0001c0010t0001g0167 a0001c0023t0001g0168 a0004c0004t0001g0182 a0004c0004t0001g0183 a0004c0004t0001g0184 a0004c0004t0001g0186 a0004c0004t0001g0187 a0004c0022t0001g0185	9	268	0.0336	-10	c.211 others(29): Show c.2115+4557_2115+4566delCTTCAATTTA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22			chr7	TogoVar
BBS9_chr7_33124564_33611069	33492811	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02723.hp2 HG03579.hp2 others(1): Show HG01891.hp1 HG02723.hp2 HG03579.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0108 a0002c0002t0001g0138 a0002c0002t0001g0196 others(1): Show a0001c0001t0001g0108 a0002c0002t0001g0138 a0002c0002t0001g0196 a0002c0002t0002g0123	4	268	0.0149	-10	c.211 others(31): Show c.2116-12617_2116-12608delGTGTGTGTGT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33542699	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(132): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp2 NA18980.hp1 NA18980.hp2 NA18993.hp2 NA18995.hp2 NA19000.hp2 NA19001.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19063.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0010 a0011 a0013 a0015	a0001c0001 a0001c0009 a0001c0010 others(16): Show a0001c0001 a0001c0009 a0001c0010 a0001c0013 a0001c0020 a0001c0021 a0001c0023 a0001c0025 a0002c0002 a0003c0003 a0005c0011 a0005c0012 a0006c0005 a0007c0006 a0008c0007 a0010c0014 a0011c0024 a0013c0019 a0015c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0009t0001 a0001c0010t0001 a0001c0013t0010 a0001c0020t0002 a0001c0021t0001 a0001c0023t0001 a0001c0025t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0011 a0002c0002t0014 a0002c0002t0019 a0003c0003t0001 a0005c0011t0001 a0005c0012t0007 a0006c0005t0001 a0007c0006t0002 a0007c0006t0005 a0008c0007t0001 a0008c0007t0002 a0010c0014t0001 a0011c0024t0011 a0013c0019t0003 a0015c0015t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 others(132): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0200 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0002g0048 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0112 a0001c0001t0002g0120 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0164 a0001c0001t0002g0172 a0001c0001t0002g0190 a0001c0001t0002g0199 a0001c0001t0002g0223 a0001c0001t0002g0247 a0001c0001t0002g0258 a0001c0001t0002g0264 a0001c0001t0003g0009 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0004g0007 a0001c0001t0005g0059 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0074 a0001c0001t0005g0076 a0001c0001t0005g0202 a0001c0001t0005g0218 a0001c0001t0006g0053 a0001c0001t0006g0102 a0001c0001t0008g0209 a0001c0001t0009g0211 a0001c0001t0009g0214 a0001c0001t0010g0117 a0001c0001t0010g0170 a0001c0001t0016g0071 a0001c0001t0017g0226 a0001c0009t0001g0240 a0001c0009t0001g0241 a0001c0010t0001g0167 a0001c0013t0010g0260 a0001c0020t0002g0069 a0001c0021t0001g0251 a0001c0023t0001g0168 a0001c0025t0003g0030 a0002c0002t0001g0137 a0002c0002t0001g0159 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0224 a0002c0002t0002g0123 a0002c0002t0002g0188 a0002c0002t0003g0004 a0002c0002t0003g0026 a0002c0002t0004g0006 a0002c0002t0004g0008 a0002c0002t0004g0011 a0002c0002t0004g0013 a0002c0002t0004g0016 a0002c0002t0004g0019 a0002c0002t0004g0022 a0002c0002t0004g0025 a0002c0002t0004g0034 a0002c0002t0005g0192 a0002c0002t0011g0017 a0002c0002t0014g0005 a0002c0002t0019g0043 a0003c0003t0001g0047 a0003c0003t0001g0060 a0003c0003t0001g0146 a0003c0003t0001g0205 a0003c0003t0001g0207 a0003c0003t0001g0208 a0005c0011t0001g0236 a0005c0011t0001g0238 a0005c0012t0007g0235 a0006c0005t0001g0140 a0006c0005t0001g0180 a0007c0006t0002g0090 a0007c0006t0005g0091 a0008c0007t0001g0150 a0008c0007t0002g0046 a0010c0014t0001g0103 a0011c0024t0011g0024 a0013c0019t0003g0250 a0015c0015t0001g0100	135	268	0.5037	-10	c.252 others(29): Show c.2521+8547_2521+8556delGTGTGTGTGT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33542790	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01109.hp2 others(18): Show HG00140.hp1 HG00741.hp1 HG01109.hp2 HG01255.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG06807.hp2 NA18955.hp2 NA18959.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0095 others(18): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0145 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0221 a0001c0001t0001g0239 a0001c0001t0002g0152 a0001c0001t0017g0226 a0002c0002t0001g0130 a0002c0002t0001g0219 a0003c0003t0001g0047 a0003c0003t0001g0060 a0003c0003t0001g0207 a0003c0003t0001g0208 a0004c0004t0001g0186 a0004c0004t0001g0187	21	268	0.0784	-10	c.252 others(29): Show c.2521+8654_2521+8663delCACACACACA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33565781	GTATATAT others(3): Show GTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02683.hp1 HG02738.hp2 others(1): Show HG00558.hp1 HG02683.hp1 HG02738.hp2 NA19010.hp2	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0001 a0001c0025 a0003c0003 others(1): Show a0001c0001 a0001c0025 a0003c0003 a0014c0016	a0001c0001t0001 a0001c0025t0003 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0025t0003 a0003c0003t0001 a0014c0016t0002	a0001c0001t0001g0104 a0001c0025t0003g0030 a0003c0003t0001g0060 others(1): Show a0001c0001t0001g0104 a0001c0025t0003g0030 a0003c0003t0001g0060 a0014c0016t0002g0268	4	268	0.0149	-10	c.252 others(31): Show c.2521+31642_2521+31651delTATATATATA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33582523	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02602.hp2 HG03669.hp2 others(5): Show HG01261.hp2 HG02602.hp2 HG03669.hp2 HG03834.hp1 HG06807.hp1 NA18946.hp2 NA19083.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0003 a0001c0001t0001 a0001c0001t0003 a0002c0002t0003	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0161 others(5): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0161 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0263 a0001c0001t0003g0036 a0002c0002t0003g0012	8	268	0.0299	-10	c.252 others(31): Show c.2522-22326_2522-22317delCACACACACA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33596290	ACACACAC others(3): Show ACACACACACT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG02622.hp2 others(4): Show HG01884.hp1 HG02486.hp2 HG02622.hp2 HG02965.hp2 HG03453.hp2 HG03471.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0002 a0001c0001 a0001c0013 a0002c0002	a0001c0001t0001 a0001c0001t0010 a0001c0001t0018 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0018 a0001c0013t0010 a0002c0002t0001 a0002c0002t0019	a0001c0001t0001g0131 a0001c0001t0010g0117 a0001c0001t0010g0170 others(4): Show a0001c0001t0001g0131 a0001c0001t0010g0117 a0001c0001t0010g0170 a0001c0001t0018g0171 a0001c0013t0010g0260 a0002c0002t0001g0137 a0002c0002t0019g0043	7	268	0.0261	-10	c.252 others(29): Show c.2522-8574_2522-8565delCACACACACT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22			chr7	TogoVar
BBS9_chr7_33124564_33611069	33597069	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01496.hp2 HG03540.hp1 others(1): Show HG00741.hp1 HG01496.hp2 HG03540.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0106 a0001c0001t0001g0155 a0001c0001t0001g0163 others(1): Show a0001c0001t0001g0106 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0008g0233	4	268	0.0149	-10	c.252 others(29): Show c.2522-7761_2522-7752delCACACACACA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107530384	CCAAAACA others(3): Show CCAAAACAAAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp1 HG01256.hp2 others(13): Show HG00738.hp1 HG01070.hp1 HG01256.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01952.hp1 HG01993.hp2 HG02280.hp1 HG02280.hp2 HG02723.hp2 HG02976.hp2 HG03041.hp1 HG03239.hp2 HG03831.hp2 NA18970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0029 a0001c0001t0042 a0001c0001t0059 a0002c0002t0002 a0002c0002t0005 a0002c0002t0050	a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0002g0006 others(13): Show a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0004g0017 a0001c0001t0029g0160 a0001c0001t0042g0007 a0001c0001t0059g0012 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0005g0010 a0002c0002t0050g0011	16	222	0.0721	-10	c.-84 others(27): Show c.-84+4014_-84+4023delAAACAAAACA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107602947	TTTTTGTT others(3): Show TTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03540.hp2 HG03579.hp1 HG02055.hp2 HG03540.hp2 HG03579.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0006 a0003c0003 a0005c0006	a0003c0003t0032 a0003c0003t0033 a0005c0006t0048 a0003c0003t0032 a0003c0003t0033 a0005c0006t0048	a0003c0003t0032g0016 a0003c0003t0033g0005 a0005c0006t0048g0004 a0003c0003t0032g0016 a0003c0003t0033g0005 a0005c0006t0048g0004	3	222	0.0135	-10	c.-83 others(29): Show c.-83-42863_-83-42854delTTTTGTTTTG	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107613941	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01884.hp1 others(14): Show HG00735.hp2 HG01081.hp2 HG01884.hp1 HG02145.hp2 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 others(8): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054	a0001c0001t0002g0200 a0001c0001t0002g0214 a0001c0001t0002g0216 others(14): Show a0001c0001t0002g0200 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0006g0203 a0001c0001t0010g0036 a0001c0001t0010g0100 a0001c0001t0010g0103 a0001c0001t0014g0030 a0001c0001t0014g0208 a0001c0001t0015g0037 a0001c0001t0015g0038 a0001c0001t0020g0098 a0001c0001t0023g0102 a0001c0001t0025g0171 a0001c0001t0052g0029 a0001c0001t0053g0032 a0001c0001t0054g0022	17	222	0.0766	-10	c.-83 others(29): Show c.-83-31875_-83-31866delTTTTTTTTTT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107616005	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02615.hp2 HG03579.hp1 HG01168.hp2 HG02615.hp2 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0016 a0003c0003t0032 a0001c0001t0001 a0001c0001t0016 a0003c0003t0032	a0001c0001t0001g0154 a0001c0001t0016g0210 a0003c0003t0032g0016 a0001c0001t0001g0154 a0001c0001t0016g0210 a0003c0003t0032g0016	3	222	0.0135	-10	c.-83 others(29): Show c.-83-29803_-83-29794delTTTTTTTTTT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107638780	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp2 HG01109.hp1 others(51): Show HG00733.hp1 HG00738.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01358.hp1 HG01496.hp2 HG01952.hp1 HG01981.hp1 HG02004.hp1 HG02071.hp2 HG02074.hp1 HG02132.hp1 HG02293.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02735.hp2 HG02886.hp2 HG03017.hp1 HG03139.hp2 HG03195.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18948.hp1 NA18952.hp2 NA18962.hp1 NA18963.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18986.hp1 NA18988.hp1 NA18991.hp2 NA18994.hp1 NA19001.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19084.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0008 a0002c0002 others(1): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0022 a0001c0001t0024 a0001c0001t0039 a0001c0001t0047 a0001c0001t0055 a0001c0001t0056 a0001c0008t0001 a0002c0002t0051 a0003c0003t0008	a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 others(51): Show a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0090 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0154 a0001c0001t0001g0204 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0002g0065 a0001c0001t0002g0115 a0001c0001t0002g0220 a0001c0001t0003g0051 a0001c0001t0003g0094 a0001c0001t0003g0127 a0001c0001t0003g0149 a0001c0001t0003g0157 a0001c0001t0003g0190 a0001c0001t0004g0145 a0001c0001t0006g0026 a0001c0001t0012g0042 a0001c0001t0012g0073 a0001c0001t0013g0079 a0001c0001t0022g0091 a0001c0001t0022g0113 a0001c0001t0024g0035 a0001c0001t0039g0147 a0001c0001t0047g0172 a0001c0001t0055g0040 a0001c0001t0056g0167 a0001c0008t0001g0121 a0002c0002t0051g0056 a0003c0003t0008g0044	54	222	0.2432	-10	c.-83 others(27): Show c.-83-7012_-83-7003delCACACACACA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107713967	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG02809.hp2 others(4): Show HG00735.hp2 HG01081.hp2 HG02809.hp2 HG02895.hp2 HG03195.hp2 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0052 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0052 a0001c0001t0054	a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0006g0046 others(4): Show a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0006g0046 a0001c0001t0006g0049 a0001c0001t0006g0188 a0001c0001t0052g0029 a0001c0001t0054g0022	7	222	0.0315	-10	c.163 others(27): Show c.163-2623_163-2614delTTTTTTTTTT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107779018	TATACACA others(3): Show TATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG00735.hp1 others(3): Show HG00099.hp2 HG00733.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0044 a0001c0001t0005 a0001c0001t0044	a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0083 others(3): Show a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0083 a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0044g0086	6	222	0.0270	-10	c.220 others(27): Show c.2203+501_2203+510delTACACACACA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BCAN_chr1_156637117_156664528	156643631	CACACAGA others(3): Show CACACAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0314 a0001c0009t0001g0314	1	420	0.0024	-10	c.-9+ others(25): Show c.-9+1358_-9+1367delCACAGAGAGA	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
BCAN_chr1_156637117_156664528	156661555	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03225.hp2 HG03098.hp2 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0001 a0001c0001t0001 a0002c0006t0001	a0001c0001t0001g0056 a0002c0006t0001g0058 a0001c0001t0001g0056 a0002c0006t0001g0058	2	420	0.0048	-10	c.24 others(21): Show c.2422_*2431delGTGTGTGTGT	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding		2028		chr1	TogoVar
BCAP29_chr7_107575246_107625478	107598894	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG02155.hp2 others(4): Show HG00140.hp1 HG00735.hp1 HG02155.hp2 HG02886.hp2 HG03130.hp1 HG03486.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0056 a0001c0001t0001g0237 a0001c0001t0001g0238 others(4): Show a0001c0001t0001g0056 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0003g0211 a0001c0001t0003g0225	7	398	0.0176	-10	c.481 others(27): Show c.481-1474_481-1465delACACACACAC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107612391	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02300.hp2 HG02809.hp1 others(2): Show HG02258.hp1 HG02300.hp2 HG02809.hp1 HG03130.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0129 others(2): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0129 a0001c0001t0001g0241 a0001c0001t0002g0307	5	398	0.0126	-10	c.590 others(25): Show c.590-901_590-892delATATATATAT	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAR1_chr16_75223181_75256624	75234160	GACAGACA others(3): Show GACAGACACAC	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0215 a0003c0007t0001g0215	1	392	0.0026	-10	c.201 others(27): Show c.2011-235_2011-226delGTGTGTCTGT	BCAR1	ENSG00000050820.17	transcript	ENST00000162330.10	protein_coding	5/6			chr16	TogoVar
BCAR1_chr16_75223181_75256624	75245964	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0121 a0001c0003t0001g0121	1	392	0.0026	-10	c.13- others(25): Show c.13-2884_13-2875delAAAAAAAAAA	BCAR1	ENSG00000050820.17	transcript	ENST00000162330.10	protein_coding	1/6			chr16	TogoVar
BCAR3_chr1_93556741_93686837	93675925	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	202	0.0050	-10	c.-11 others(25): Show c.-11-994_-11-985delTTTTTTTTTT	BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding	1/11			chr1	TogoVar
BCAS1_chr20_53938541_54075594	53954294	GGAGAGAG others(3): Show GGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00597.hp2 others(55): Show HG00408.hp2 HG00438.hp1 HG00597.hp2 HG01070.hp2 HG01099.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp1 HG01361.hp1 HG01934.hp2 HG02074.hp2 HG02129.hp2 HG02135.hp2 HG02615.hp1 HG02738.hp2 HG03225.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp2 HG04184.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18974.hp1 NA18977.hp1 NA18981.hp2 NA18983.hp2 NA18994.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19005.hp2 NA19011.hp2 NA19043.hp2 NA19060.hp1 NA19065.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0007 a0015 a0018 a0023 a0031	a0001c0001 a0002c0002 a0003c0003 others(7): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0006c0006 a0007c0008 a0015c0015 a0018c0020 a0023c0029 a0031c0045	a0001c0001t0004 a0001c0001t0011 a0001c0001t0014 others(28): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0025 a0001c0001t0051 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0037 a0002c0002t0042 a0002c0002t0055 a0002c0002t0057 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0003c0003t0007 a0003c0003t0013 a0003c0003t0024 a0005c0005t0001 a0005c0005t0002 a0005c0005t0006 a0005c0005t0052 a0006c0006t0018 a0006c0006t0027 a0007c0008t0009 a0015c0015t0027 a0018c0020t0005 a0023c0029t0005 a0031c0045t0003	a0001c0001t0004g0324 a0001c0001t0011g0025 a0001c0001t0014g0322 others(53): Show a0001c0001t0004g0324 a0001c0001t0011g0025 a0001c0001t0014g0322 a0001c0001t0015g0326 a0001c0001t0015g0333 a0001c0001t0025g0151 a0001c0001t0051g0315 a0002c0002t0001g0101 a0002c0002t0001g0130 a0002c0002t0002g0107 a0002c0002t0006g0265 a0002c0002t0006g0269 a0002c0002t0037g0004 a0002c0002t0042g0053 a0002c0002t0055g0117 a0002c0002t0057g0091 a0003c0003t0001g0311 a0003c0003t0002g0258 a0003c0003t0004g0167 a0003c0003t0004g0206 a0003c0003t0005g0013 a0003c0003t0005g0022 a0003c0003t0005g0033 a0003c0003t0005g0036 a0003c0003t0005g0039 a0003c0003t0005g0044 a0003c0003t0005g0047 a0003c0003t0005g0051 a0003c0003t0005g0056 a0003c0003t0005g0057 a0003c0003t0005g0060 a0003c0003t0005g0061 a0003c0003t0005g0065 a0003c0003t0005g0067 a0003c0003t0007g0001 a0003c0003t0013g0017 a0003c0003t0013g0045 a0003c0003t0024g0237 a0005c0005t0001g0086 a0005c0005t0001g0103 a0005c0005t0001g0108 a0005c0005t0002g0102 a0005c0005t0006g0264 a0005c0005t0006g0273 a0005c0005t0006g0275 a0005c0005t0006g0278 a0005c0005t0006g0279 a0005c0005t0052g0268 a0006c0006t0018g0323 a0006c0006t0027g0023 a0007c0008t0009g0246 a0015c0015t0027g0058 a0018c0020t0005g0062 a0018c0020t0005g0063 a0023c0029t0005g0012 a0031c0045t0003g0270	58	364	0.1593	-10	c.155 others(27): Show c.1552-609_1552-600delTCTCTCTCTC	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	11/12			chr20	TogoVar
BCAS2_chr1_114562557_114586615	114576222	CCTCTCTC others(3): Show CCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01167.hp2 others(1): Show HG00642.hp1 HG01074.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0046 a0001c0001t0001g0175 a0001c0001t0001g0176	4	414	0.0097	-10	c.257 others(25): Show c.257+456_257+465delAGAGAGAGAG	BCAS2	ENSG00000116752.6	transcript	ENST00000369541.4	protein_coding	3/6			chr1	TogoVar
BCAS3_chr17_60672851_61397831	60683830	TCAAAACA others(3): Show TCAAAACAAAA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02965.hp2 HG03579.hp1 HG02809.hp1 HG02965.hp2 HG03579.hp1	a0003 a0003	a0003c0001 a0003c0010 a0003c0001 a0003c0010	a0003c0001t0001 a0003c0001t0002 a0003c0010t0002 a0003c0001t0001 a0003c0001t0002 a0003c0010t0002	a0003c0001t0001g0028 a0003c0001t0002g0022 a0003c0010t0002g0023 a0003c0001t0001g0028 a0003c0001t0002g0022 a0003c0010t0002g0023	3	74	0.0405	-10	c.84- others(23): Show c.84-137_84-128delACAAAACAAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar

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