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
BAMBI_chr10_28672521_28687932	28683987	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	436	0.0023	32	c.15 others(43): Show c.1586_*1587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	BAMBI	ENSG00000095739.11	transcript	ENST00000375533.6	protein_coding		1056		chr10	TogoVar
BANK1_chr4_101785730_102079812	101947309	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01934.hp1 HG02809.hp2 others(1): Show HG00597.hp1 HG01934.hp1 HG02809.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0043 a0001c0001t0001g0095 a0001c0001t0001g0097 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0002t0003g0251	4	284	0.0141	32	c.120 others(53): Show c.1206+29123_1206+29124insATATATATATATATATATATATAT ATATGTAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	102007144	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0053 a0004c0005t0001g0053	1	284	0.0035	32	c.120 others(53): Show c.1207-14369_1207-14368insATATATATATATATATATATATAT ATATATAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	102007146	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0052 a0003c0004t0001g0052	1	284	0.0035	32	c.120 others(53): Show c.1207-14344_1207-14343insTATATATATATATATATATATATA TATATATA	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	102007156	A A	ATATATAT others(25): Show ATATATATATATATATATATATATAATATATTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03041.hp1 HG02109.hp1 HG03041.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0141 a0003c0004t0001g0146 a0003c0004t0001g0141 a0003c0004t0001g0146	2	284	0.0070	32	c.120 others(53): Show c.1207-14344_1207-14343insTATATATATAATATATTTTATATA TATATATA	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANP_chr16_87946434_88082316	88019588	C C	CGGCGTGC others(25): Show CGGCGTGCGGGGGGCGGGGCGTGCGGGGGGCGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02818.hp2 others(1): Show HG01884.hp1 HG02257.hp2 HG02818.hp2 HG02976.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0270 a0001c0008t0001g0271 a0001c0008t0001g0272 others(1): Show a0001c0008t0001g0270 a0001c0008t0001g0271 a0001c0008t0001g0272 a0001c0008t0001g0273	4	352	0.0114	32	c.895 others(47): Show c.895+931_895+932insGGGCGGGGCGTGCGGGGGGCGGGGCGTGCG GG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BARHL2_chr1_90706539_90722302	90709236	G G	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01934.hp1 HG01975.hp1 others(10): Show HG01346.hp1 HG01934.hp1 HG01975.hp1 HG02040.hp1 HG03098.hp2 HG04204.hp1 NA18947.hp2 NA18963.hp1 NA18972.hp2 NA19004.hp1 NA19080.hp2 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0002g0003 others(6): Show a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0021	13	446	0.0292	32	c.30 others(43): Show c.3075_*3076insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		2302		chr1	TogoVar
BARHL2_chr1_90706539_90722302	90719504	G G	GAAAAAAA others(25): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 NA19010.hp1 HG02818.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0002g0026 a0001c0001t0001g0004 a0001c0001t0002g0026	2	446	0.0045	32	c.-23 others(43): Show c.-2310_-2309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		2203		chr1	TogoVar
BASP1_chr5_17212631_17281834	17217071	T T	TGTGAGAG others(25): Show TGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA19068.hp1 NA19083.hp2 NA18990.hp1 NA19068.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0022 a0001c0001t0005 a0001c0001t0022	a0001c0001t0005g0329 a0001c0001t0005g0332 a0001c0001t0022g0331 a0001c0001t0005g0329 a0001c0001t0005g0332 a0001c0001t0022g0331	3	370	0.0081	32	c.-74 others(41): Show c.-749_-748insGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	BASP1	ENSG00000176788.9	transcript	ENST00000322611.4	protein_coding		559		chr5	TogoVar
BATF3_chr1_212681417_212704840	212681420	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	2	462	0.0043	32	c.53 others(43): Show c.5370_*5371insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding		4996		chr1	TogoVar
BATF3_chr1_212681417_212704840	212687967	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG06807.hp1 NA18979.hp2 HG02698.hp2 HG06807.hp1 NA18979.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0081 a0002c0002t0001g0244 a0002c0002t0001g0281 a0001c0001t0001g0081 a0002c0002t0001g0244 a0002c0002t0001g0281	3	462	0.0065	32	c.196 others(48): Show c.196-1020_196-989dupCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding	2/2			chr1	TogoVar
BAZ1A_chr14_34747731_34880360	34832209	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0169 a0001c0002t0003g0169	1	380	0.0026	32	c.393 others(49): Show c.393-6054_393-6053insATATATATATATATATATATATATATAT ATAT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832211	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02027.hp2 HG00597.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0146 a0001c0002t0003g0179 a0001c0002t0003g0146 a0001c0002t0003g0179	2	380	0.0053	32	c.393 others(49): Show c.393-6056_393-6055insATATATATATATATATATATATATATAT ATAT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(25): Show CACACACACACACACACACACACATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18940.hp1 NA18975.hp1 others(1): Show HG02015.hp2 NA18940.hp1 NA18975.hp1 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0070 a0001c0002t0002g0101 a0001c0002t0002g0115 others(1): Show a0001c0002t0002g0070 a0001c0002t0002g0101 a0001c0002t0002g0115 a0001c0002t0002g0118	4	380	0.0105	32	c.393 others(49): Show c.393-6060_393-6059insATATATATATGTGTGTGTGTGTGTGTGT GTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(25): Show CACACACACACACACACACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG03139.hp1 HG03195.hp2 HG02027.hp1 HG03139.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0071 a0001c0002t0002g0095 a0001c0002t0002g0099 a0001c0002t0002g0071 a0001c0002t0002g0095 a0001c0002t0002g0099	3	380	0.0079	32	c.393 others(49): Show c.393-6060_393-6059insATATATATATATGTGTGTGTGTGTGTGT GTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(25): Show CACACACACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0018 a0001c0004t0004g0018	1	380	0.0026	32	c.393 others(49): Show c.393-6060_393-6059insATATATATATATATATATATATGTGTGT GTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BBOX1_chr11_27035815_27132809	27057063	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	318	0.0031	32	c.220 others(47): Show c.220-138_220-137insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8			chr11	TogoVar
BBS1_chr11_66505635_66538598	66512003	A A	AAAATATA others(25): Show AAAATATATATATATATGTGTATATATATGTAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0119 a0001c0002t0003g0119	1	386	0.0026	32	c.159 others(47): Show c.159+765_159+766insAATATATATATATATGTGTATATATATGTA TA	BBS1	ENSG00000174483.20	transcript	ENST00000318312.12	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBS1_chr11_66505635_66538598	66512010	A A	ATATATAT others(25): Show ATATATATATGTGTATATATATGTATATATATG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	386	0.0026	32	c.159 others(47): Show c.159+803_159+834dupGTATATATATGTGTATATATATGTATATAT AT	BBS1	ENSG00000174483.20	transcript	ENST00000318312.12	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBS9_chr7_33124564_33611069	33569407	G G	GTGTGTGT others(25): Show GTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19083.hp1 NA18946.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0072 a0001c0001t0001g0073	2	268	0.0075	32	c.252 others(53): Show c.2521+35232_2521+35233insGTGTGTATATATATATATATATAT ATATATAT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107521383	C C	CATTGATC others(25): Show CATTGATCACGCATTGATCACGCATTGATCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0194 a0001c0001t0005g0195	2	222	0.0090	32	c.-18 others(43): Show c.-1880_-1879insATTGATCACGCATTGATCACGCATTGATCACG	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding		1578		chr3	TogoVar
BBX_chr3_107517962_107816339	107778994	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02818.hp1 HG01891.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0020 a0001c0004t0030 a0001c0001t0020 a0001c0004t0030	a0001c0001t0020g0023 a0001c0004t0030g0176 a0001c0001t0020g0023 a0001c0004t0030g0176	2	222	0.0090	32	c.220 others(49): Show c.2203+502_2203+503insTATATATATATATATATATATATATATA TATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797337	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01496.hp2 HG02004.hp2 others(5): Show HG01255.hp1 HG01496.hp2 HG02004.hp2 HG02071.hp1 HG02132.hp1 HG02922.hp2 HG03704.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0015 a0001c0001t0022	a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0123 others(5): Show a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0123 a0001c0001t0001g0219 a0001c0001t0002g0162 a0001c0001t0007g0164 a0001c0001t0015g0038 a0001c0001t0022g0091	8	222	0.0360	32	c.235 others(51): Show c.2354-1159_2354-1158insTATATATATATATATATATATATATA TATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797364	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0194 a0001c0001t0005g0195	2	222	0.0090	32	c.235 others(51): Show c.2354-1159_2354-1158insTATATATATATATATATATATATATA TATATG	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17			chr3	TogoVar
BCAP29_chr7_107575246_107625478	107591641	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	398	0.0025	32	c.194 others(49): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACAC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107591656	A A	ACACACAC others(25): Show ACACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00639.hp2 others(40): Show HG00140.hp1 HG00408.hp2 HG00639.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01516.hp2 HG01891.hp1 HG01943.hp2 HG02135.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG03041.hp2 HG03130.hp1 HG03579.hp2 HG03669.hp1 HG03834.hp1 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18955.hp2 NA18962.hp2 NA18973.hp1 NA18973.hp2 NA18988.hp2 NA18992.hp2 NA19001.hp1 NA19060.hp1 NA19070.hp1 NA19080.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0049 others(37): Show a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0049 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0168 a0001c0001t0001g0191 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0340 a0001c0001t0003g0005 a0001c0001t0003g0016 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0203 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0354 a0001c0001t0004g0190 a0001c0001t0004g0192	43	398	0.1080	32	c.194 others(49): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACCC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107591656	A A	ACACACAC others(25): Show ACACACACACACACACACACACACACACACCCC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18979.hp1 NA19072.hp2 NA18944.hp2 NA18979.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0102 a0001c0001t0001g0125 a0001c0001t0001g0126	3	398	0.0075	32	c.194 others(49): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC CCCC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAR1_chr16_75223181_75256624	75245964	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0011 a0002c0005t0011	a0002c0005t0011g0197 a0002c0005t0011g0197	1	392	0.0026	32	c.13- others(47): Show c.13-2875_13-2874insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	BCAR1	ENSG00000050820.17	transcript	ENST00000162330.10	protein_coding	1/6			chr16	TogoVar
BCAS3_chr17_60672851_61397831	60973585	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02886.hp2 HG01952.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0053 a0001c0002t0002g0057 a0001c0002t0002g0053 a0001c0002t0002g0057	2	74	0.0270	32	c.122 others(53): Show c.1222-16386_1222-16385insTATATATATATATATATATATATA TATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	14/23			chr17	TogoVar
BCAS3_chr17_60672851_61397831	61044465	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0040 a0002c0003t0001g0040	1	74	0.0135	32	c.202 others(51): Show c.2029+3587_2029+3588insATATATATATATATATATATATATAT ATATAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61045956	T T	TATATATT others(25): Show TATATATTATATATATATATATTTATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp1 HG03195.hp2 HG02922.hp2 HG02965.hp1 HG03195.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0017	3	74	0.0405	32	c.202 others(51): Show c.2029+5070_2029+5071insTATATATATATATATTTATATATATA ATATAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61375246	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGCGCGCGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	74	0.0135	32	c.259 others(51): Show c.2593+6761_2593+6762insGTGTGCGCGCGCGCGCGCGCACATGT GTGTGT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAT1_chr12_24805024_24954101	24936712	A A	ATCTCTCT others(25): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG01069.hp2 others(19): Show HG00140.hp1 HG00639.hp2 HG01069.hp2 HG01358.hp1 HG01361.hp1 HG02132.hp1 HG02155.hp1 HG02273.hp1 HG02559.hp1 HG03130.hp2 HG03239.hp1 HG04184.hp1 HG04228.hp2 NA18940.hp1 NA18944.hp1 NA18957.hp1 NA18961.hp1 NA18971.hp1 NA18992.hp1 NA19056.hp1 NA19077.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0040 a0001c0001t0045 a0001c0001t0051 a0001c0001t0083 a0001c0001t0126 a0001c0001t0129 a0001c0003t0007	a0001c0001t0001g0060 a0001c0001t0002g0204 a0001c0001t0003g0034 others(19): Show a0001c0001t0001g0060 a0001c0001t0002g0204 a0001c0001t0003g0034 a0001c0001t0004g0219 a0001c0001t0006g0232 a0001c0001t0007g0244 a0001c0001t0011g0039 a0001c0001t0011g0280 a0001c0001t0021g0192 a0001c0001t0022g0245 a0001c0001t0027g0249 a0001c0001t0028g0035 a0001c0001t0033g0243 a0001c0001t0040g0250 a0001c0001t0040g0251 a0001c0001t0045g0247 a0001c0001t0051g0302 a0001c0001t0083g0058 a0001c0001t0126g0062 a0001c0001t0129g0297 a0001c0003t0007g0040 a0001c0003t0007g0101	22	322	0.0683	32	c.6+1 others(47): Show c.6+12214_6+12215insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	1/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24951590	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0178 a0001c0001t0069g0178	1	322	0.0031	32	c.-26 others(43): Show c.-2659_-2658insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding		2490		chr12	TogoVar
BCL2L10_chr15_52104263_52117775	52111173	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0069 a0002c0002t0002g0069	1	458	0.0022	32	c.489 others(49): Show c.489+1033_489+1064dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding	1/1			chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117089	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0121 a0002c0002t0001g0121	1	458	0.0022	32	c.-43 others(43): Show c.-4364_-4363insATATATATATATATATATATATATATATATAT	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4315		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01071.hp2 others(4): Show HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01168.hp1 HG01169.hp2 HG03491.hp2 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0035 a0002c0002t0001g0054 a0002c0002t0001g0055	7	458	0.0153	32	c.-43 others(43): Show c.-4377_-4376insAATATATATATATATATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	458	0.0022	32	c.-43 others(43): Show c.-4377_-4376insAAAATATATATATATATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	458	0.0022	32	c.-43 others(43): Show c.-4377_-4376insAAAAAAAATATATATATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(25): Show ATATATATATATATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 NA19240.hp1 HG02451.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	2	458	0.0044	32	c.-43 others(43): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAAATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L13_chr22_17633757_17735855	17720154	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01934.hp1 HG02572.hp1 others(7): Show HG00738.hp1 HG01934.hp1 HG02572.hp1 HG02602.hp2 HG02698.hp2 HG02723.hp1 HG02809.hp2 HG03579.hp1 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0001t0028 others(4): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0028 a0001c0001t0038 a0001c0001t0041 a0001c0002t0006 a0001c0002t0037	a0001c0001t0002g0211 a0001c0001t0008g0227 a0001c0001t0028g0303 others(7): Show a0001c0001t0002g0211 a0001c0001t0008g0227 a0001c0001t0028g0303 a0001c0001t0038g0228 a0001c0001t0041g0240 a0001c0002t0006g0066 a0001c0002t0006g0068 a0001c0002t0006g0071 a0001c0002t0006g0072 a0001c0002t0037g0062	10	306	0.0327	32	c.601 others(49): Show c.601-6495_601-6494insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2_chr18_63118346_63324769	63169336	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03225.hp2 NA18948.hp2 others(2): Show HG02965.hp1 HG03225.hp2 NA18948.hp2 NA18971.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0045 a0001c0001t0001 a0001c0001t0003 a0001c0001t0045	a0001c0001t0001g0104 a0001c0001t0001g0141 a0001c0001t0003g0236 others(2): Show a0001c0001t0001g0104 a0001c0001t0001g0141 a0001c0001t0003g0236 a0001c0001t0003g0244 a0001c0001t0045g0147	5	264	0.0189	32	c.586 others(51): Show c.586-40609_586-40578dupAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAG	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL3_chr19_44743708_44765044	44764168	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	344	0.0029	32	c.45 others(43): Show c.4553_*4554insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGCG	BCL3	ENSG00000069399.15	transcript	ENST00000164227.10	protein_coding		4125		chr19	TogoVar
BCL7B_chr7_73531356_73562690	73540829	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	284	0.0035	32	c.266 others(47): Show c.266-778_266-777insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	BCL7B	ENSG00000106635.8	transcript	ENST00000223368.7	protein_coding	3/5			chr7	TogoVar
BCO1_chr16_81233689_81296142	81235210	A A	ATATATAT others(25): Show ATATATATATATAAATAAATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0088 a0003c0009t0001g0088	1	402	0.0025	32	c.-36 others(43): Show c.-3699_-3698insTATATATATATAAATAAATATATATATATATT	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3478		chr16	TogoVar
BCO1_chr16_81233689_81296142	81235210	A A	ATATATAT others(25): Show ATATATATATATATATAAATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	402	0.0025	32	c.-36 others(43): Show c.-3699_-3698insTATATATATATATATAAATATATATATATATT	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3478		chr16	TogoVar
BCR_chr22_23175509_23323037	23262691	T T	TGGCGGGC others(25): Show TGGCGGGCCCGGGTGAGGGCGGGCCCGGGTGAG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0096 a0002c0003t0096	a0002c0003t0096g0229 a0002c0003t0096g0229	1	296	0.0034	32	c.175 others(51): Show c.1752+1158_1752+1189dupCCCGGGTGAGGGCGGGCCCGGGTGAG GGCGGG	BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr22	TogoVar
BDH1_chr3_197504783_197560968	197506950	C C	CGAGGTCT others(25): Show CGAGGTCTGGATCTTGTGGGGTCTGGATCTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0195 a0001c0001t0006g0195	1	319	0.0031	32	c.49 others(43): Show c.4944_*4945insACAAGATCCAGACCCCACAAGATCCAGACCTC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding		2832		chr3	TogoVar
BDH1_chr3_197504783_197560968	197510599	G G	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp2 NA20300.hp2 HG03540.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0170 a0001c0001t0178 a0001c0001t0170 a0001c0001t0178	a0001c0001t0170g0226 a0001c0001t0178g0179 a0001c0001t0170g0226 a0001c0001t0178g0179	2	319	0.0063	32	c.12 others(43): Show c.1264_*1295dupACACACACACACACACACACACACACACACAC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1295		chr3	TogoVar
BDH1_chr3_197504783_197560968	197542521	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19068.hp2 NA19057.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0086 a0001c0001t0007 a0001c0001t0086	a0001c0001t0007g0107 a0001c0001t0086g0106 a0001c0001t0007g0107 a0001c0001t0086g0106	2	319	0.0063	32	c.83+ others(47): Show c.83+3839_83+3840insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	3/7			chr3	TogoVar

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