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
B3GNT3_chr19_17790138_17818576	17799778	AGGGGTAT others(13): Show AGGGGTATCCAGGCCGGTTAG	A A	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0006 a0006c0010t0006	a0006c0010t0006g0161 a0006c0010t0006g0161	1	406	0.0025	-20	c.-51 others(37): Show c.-51+4576_-51+4595delGTATCCAGGCCGGTTAGGGG	B3GNT3	ENSG00000179913.11	transcript	ENST00000318683.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GNT3_chr19_17790138_17818576	17803275	GGATTACA others(13): Show GGATTACAGACGTGGGCCACA	G G	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0066	1	406	0.0025	-20	c.-50 others(37): Show c.-50-4481_-50-4462delATTACAGACGTGGGCCACAG	B3GNT3	ENSG00000179913.11	transcript	ENST00000318683.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GNT6_chr11_77029398_77046973	77032660	TATATATA others(13): Show TATATATATATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG02630.hp1 HG02717.hp2 others(1): Show HG01074.hp2 HG02630.hp1 HG02717.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0012 a0001c0001t0013 a0001c0002t0012	a0001c0001t0013g0016 a0001c0002t0012g0025 a0001c0001t0013g0016 a0001c0002t0012g0025	4	442	0.0091	-20	c.-18 others(31): Show c.-1818_-1799delATATATATATATATATATAC	B3GNT6	ENSG00000198488.10	transcript	ENST00000622824.1	protein_coding		1737		chr11	TogoVar
B4GALNT3_chr12_454939_568509	471384	CAATAAAT others(13): Show CAATAAATAAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG01167.hp2 others(25): Show HG00639.hp2 HG01109.hp1 HG01167.hp2 HG01891.hp1 HG01952.hp2 HG02055.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG06807.hp1 HG06807.hp2 NA19240.hp1 NA20300.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0007 a0011	a0001c0001 a0001c0042 a0003c0004 others(5): Show a0001c0001 a0001c0042 a0003c0004 a0004c0028 a0005c0006 a0006c0007 a0007c0008 a0011c0015	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(20): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0016 a0001c0001t0022 a0001c0001t0028 a0001c0001t0055 a0001c0001t0091 a0001c0042t0002 a0003c0004t0029 a0003c0004t0080 a0003c0004t0086 a0004c0028t0004 a0005c0006t0001 a0005c0006t0007 a0006c0007t0001 a0006c0007t0002 a0006c0007t0039 a0006c0007t0065 a0006c0007t0067 a0007c0008t0002 a0011c0015t0039	a0001c0001t0002g0209 a0001c0001t0002g0294 a0001c0001t0004g0298 others(25): Show a0001c0001t0002g0209 a0001c0001t0002g0294 a0001c0001t0004g0298 a0001c0001t0005g0225 a0001c0001t0013g0391 a0001c0001t0016g0179 a0001c0001t0022g0036 a0001c0001t0022g0037 a0001c0001t0022g0204 a0001c0001t0028g0208 a0001c0001t0055g0181 a0001c0001t0091g0232 a0001c0042t0002g0203 a0003c0004t0029g0182 a0003c0004t0029g0300 a0003c0004t0080g0201 a0003c0004t0086g0302 a0004c0028t0004g0207 a0005c0006t0001g0304 a0005c0006t0007g0146 a0006c0007t0001g0005 a0006c0007t0001g0140 a0006c0007t0002g0180 a0006c0007t0039g0301 a0006c0007t0065g0206 a0006c0007t0067g0205 a0007c0008t0002g0004 a0011c0015t0039g0303	28	394	0.0711	-20	c.169 others(39): Show c.169+10860_169+10879delAATAAATAAATAAATAAATA	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511013	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0067 a0006c0007t0067	a0006c0007t0067g0205 a0006c0007t0067g0205	1	394	0.0025	-20	c.170 others(39): Show c.170-24130_170-24111delTTTTTTTTTTTTTTTTTTTT	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511792	CCTTCCAC others(13): Show CCTTCCACCTTCTTCCACCTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03139.hp1 HG02630.hp2 HG03139.hp1	a0001 a0011 a0001 a0011	a0001c0016 a0011c0015 a0001c0016 a0011c0015	a0001c0016t0083 a0011c0015t0092 a0001c0016t0083 a0011c0015t0092	a0001c0016t0083g0228 a0011c0015t0092g0234 a0001c0016t0083g0228 a0011c0015t0092g0234	2	394	0.0051	-20	c.170 others(39): Show c.170-23362_170-23343delTTCCACCTTCTTCCACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	512239	CCTTCCAC others(13): Show CCTTCCACCTTCTTCCACCTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18941.hp2 NA19074.hp1 HG00597.hp2 NA18941.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0069 a0001c0001t0001 a0001c0001t0015 a0001c0001t0069	a0001c0001t0001g0242 a0001c0001t0015g0224 a0001c0001t0069g0339 a0001c0001t0001g0242 a0001c0001t0015g0224 a0001c0001t0069g0339	3	394	0.0076	-20	c.170 others(39): Show c.170-22905_170-22886delTTCCACCTTCTTCCACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	369345	CCGCCCCG others(13): Show CCGCCCCGCCCCGCCTCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	184	0.0054	-20	c.-45 others(29): Show c.-458_-439delCGCCCCGCCCCGCCTCCCCT	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		153		chr11	TogoVar
B4GALT3_chr1_161166310_161182507	161179281	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01109.hp1 HG01243.hp1 others(39): Show HG00280.hp2 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01433.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02615.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03209.hp1 HG03486.hp2 HG03516.hp1 NA18747.hp2 NA18943.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18964.hp1 NA18969.hp1 NA18972.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp2 NA18997.hp2 NA19003.hp1 NA19011.hp1 NA19064.hp2 NA19065.hp2 NA19082.hp2 NA19086.hp1 NA19091.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0002t0001g0003 others(5): Show a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0002t0001g0003 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0003t0001g0006 a0001c0003t0001g0026 a0001c0003t0001g0045	42	374	0.1123	-20	c.-20 others(31): Show c.-2039_-2020delGGAAGGAAGGAAGGAAGGAA	B4GALT3	ENSG00000158850.15	transcript	ENST00000319769.10	protein_coding		1775		chr1	TogoVar
B4GALT6_chr18_31617246_31689581	31626066	AATATGTG others(13): Show AATATGTGTATTTATTAATGT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0237 a0001c0001t0007g0237	1	306	0.0033	-20	c.100 others(37): Show c.1001+197_1001+216delACATTAATAAATACACATAT	B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding	8/8			chr18	TogoVar
BABAM1_chr19_17262443_17284337	17280981	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02258.hp2 HG02451.hp2 others(6): Show HG01109.hp1 HG02258.hp2 HG02451.hp2 HG02572.hp1 HG02647.hp1 HG02886.hp1 HG03139.hp1 NA18939.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0132 a0001c0001t0001g0135 others(4): Show a0001c0001t0001g0026 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0202	9	424	0.0212	-20	c.19 others(31): Show c.1934_*1953delAAAAAAAAAAAAAAAAAAAA	BABAM1	ENSG00000105393.16	transcript	ENST00000598188.6	protein_coding		1645		chr19	TogoVar
BABAM2_chr2_27885729_28343901	28026805	AATATATA others(13): Show AATATATAAATATATATTTAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	158	0.0063	-20	c.495 others(37): Show c.495+1402_495+1421delTTATATATATAAATATATAT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28315421	TTTTTCTT others(13): Show TTTTTCTTTTCTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01081.hp2 others(37): Show HG00639.hp2 HG01069.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01433.hp1 HG01934.hp1 HG02027.hp2 HG02109.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02572.hp1 HG02615.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03471.hp2 HG03516.hp1 NA18906.hp1 NA18954.hp1 NA18955.hp1 NA18964.hp1 NA18968.hp1 NA18969.hp2 NA18982.hp2 NA18986.hp1 NA19030.hp2 NA19091.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0040 others(37): Show a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0115 a0001c0001t0001g0124 a0001c0001t0001g0139 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0068 a0001c0001t0002g0077 a0001c0001t0002g0087 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0156 a0001c0001t0005g0119	40	158	0.2532	-20	c.108 others(41): Show c.1088+16976_1088+16995delTTTTCTTTTCTTTTCTTTTC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BACH1_chr21_29293922_29351148	29297373	CTAGAAAA others(13): Show CTAGAAAAAACTGCACAGGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0257 a0002c0003t0010g0257	1	368	0.0027	-20	c.-16 others(31): Show c.-1640_-1621delTAGAAAAAACTGCACAGGTG	BACH1	ENSG00000156273.16	transcript	ENST00000286800.8	protein_coding		1548		chr21	TogoVar
BACH1_chr21_29293922_29351148	29324556	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	368	0.0027	-20	c.235 others(37): Show c.235-1477_235-1458delGTGTGTGTGTGTGTGTGTGT	BACH1	ENSG00000156273.16	transcript	ENST00000286800.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
BACH2_chr6_89921528_90301843	89959097	GCACACAC others(13): Show GCACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01081.hp1 others(18): Show HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01358.hp1 HG01496.hp1 HG02145.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02818.hp1 HG02895.hp2 HG02922.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0007	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(16): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0045 a0001c0001t0126 a0001c0002t0007 a0001c0002t0020 a0001c0003t0015 a0001c0003t0036 a0001c0003t0054 a0001c0003t0072 a0001c0003t0085 a0001c0003t0092 a0001c0003t0094 a0001c0004t0022 a0002c0007t0028 a0002c0007t0030 a0002c0007t0065	a0001c0001t0003g0047 a0001c0001t0007g0165 a0001c0001t0008g0097 others(18): Show a0001c0001t0003g0047 a0001c0001t0007g0165 a0001c0001t0008g0097 a0001c0001t0014g0179 a0001c0001t0014g0180 a0001c0001t0045g0058 a0001c0001t0126g0182 a0001c0002t0007g0030 a0001c0002t0020g0157 a0001c0003t0015g0005 a0001c0003t0015g0006 a0001c0003t0036g0068 a0001c0003t0054g0083 a0001c0003t0072g0167 a0001c0003t0085g0090 a0001c0003t0092g0017 a0001c0003t0094g0059 a0001c0004t0022g0134 a0002c0007t0028g0002 a0002c0007t0030g0001 a0002c0007t0065g0145	21	194	0.1083	-20	c.244 others(37): Show c.244-7255_244-7236delTGTGTGTGTGTGTGTGTGTG	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	6/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90239798	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03098.hp1 NA18906.hp2 HG02572.hp2 HG03098.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0007 a0001c0004 a0002c0007	a0001c0004t0029 a0002c0007t0028 a0002c0007t0030 a0001c0004t0029 a0002c0007t0028 a0002c0007t0030	a0001c0004t0029g0003 a0002c0007t0028g0002 a0002c0007t0030g0001 a0001c0004t0029g0003 a0002c0007t0028g0002 a0002c0007t0030g0001	3	194	0.0155	-20	c.-27 others(41): Show c.-275+12695_-275+12714delGTGTGTGTGTGTGTGTGTGT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	3/8			chr6	TogoVar
BAG4_chr8_38171855_38218301	38210938	GTAATTAT others(13): Show GTAATTATAGCTTAGACTTTA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0176 a0001c0001t0013g0176	1	306	0.0033	-20	c.44 others(29): Show c.446_*465delTAATTATAGCTTAGACTTTA	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	5/5	446		chr8	TogoVar
BAG4_chr8_38171855_38218301	38215361	TAATATAT others(13): Show TAATATATAATATATATTTAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	306	0.0033	-20	c.48 others(31): Show c.4869_*4888delAATATATAATATATATTTAA	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding		2061		chr8	TogoVar
BAHCC1_chr17_81390457_81471331	81411502	GCCTGCCT others(13): Show GCCTGCCTGCCTGCCTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02976.hp2 HG02109.hp1 HG02976.hp2	a0001 a0017 a0001 a0017	a0001c0007 a0017c0023 a0001c0007 a0017c0023	a0001c0007t0016 a0017c0023t0038 a0001c0007t0016 a0017c0023t0038	a0001c0007t0016g0234 a0017c0023t0038g0027 a0001c0007t0016g0234 a0017c0023t0038g0027	2	332	0.0060	-20	c.178 others(39): Show c.178+11589_178+11608delGCCTGCCTGCCTTCCTTCCT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81411506	GCCTGCCT others(13): Show GCCTGCCTGCCTTCCTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00733.hp2 others(11): Show HG00140.hp2 HG00323.hp2 HG00733.hp2 HG00741.hp2 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01261.hp2 HG01515.hp2 HG01934.hp2 HG02451.hp1 HG02809.hp1 HG03516.hp2 HG03669.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0009 a0054	a0001c0009 a0001c0012 a0001c0069 others(7): Show a0001c0009 a0001c0012 a0001c0069 a0002c0063 a0003c0002 a0004c0004 a0004c0011 a0004c0035 a0009c0013 a0054c0041	a0001c0009t0025 a0001c0012t0002 a0001c0069t0007 others(8): Show a0001c0009t0025 a0001c0012t0002 a0001c0069t0007 a0002c0063t0020 a0003c0002t0013 a0004c0004t0002 a0004c0004t0014 a0004c0011t0002 a0004c0035t0002 a0009c0013t0006 a0054c0041t0019	a0001c0009t0025g0252 a0001c0012t0002g0137 a0001c0069t0007g0253 others(11): Show a0001c0009t0025g0252 a0001c0012t0002g0137 a0001c0069t0007g0253 a0002c0063t0020g0251 a0003c0002t0013g0024 a0004c0004t0002g0092 a0004c0004t0002g0093 a0004c0004t0002g0218 a0004c0004t0002g0219 a0004c0004t0014g0190 a0004c0011t0002g0162 a0004c0035t0002g0215 a0009c0013t0006g0163 a0054c0041t0019g0013	14	332	0.0422	-20	c.178 others(39): Show c.178+11593_178+11612delGCCTGCCTTCCTTCCTTCCT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81411514	GCCTTCCT others(13): Show GCCTTCCTTCCTTCCTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01884.hp1 NA19043.hp1 HG01074.hp2 HG01884.hp1 NA19043.hp1	a0002 a0006 a0007 a0002 a0006 a0007	a0002c0001 a0006c0020 a0007c0008 a0002c0001 a0006c0020 a0007c0008	a0002c0001t0001 a0006c0020t0002 a0007c0008t0004 a0002c0001t0001 a0006c0020t0002 a0007c0008t0004	a0002c0001t0001g0320 a0006c0020t0002g0325 a0007c0008t0004g0317 a0002c0001t0001g0320 a0006c0020t0002g0325 a0007c0008t0004g0317	3	332	0.0090	-20	c.178 others(39): Show c.178+11638_178+11657delCCTTCCTTCCTTCCTTCCTT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHD1_chr15_40435953_40473236	40447560	GAATAAAT others(13): Show GAATAAATAAATAAATAAATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(166): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18984.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19070.hp2 NA19080.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2	a0001 a0005 a0006 others(3): Show a0001 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0005c0013 a0006c0009 others(3): Show a0001c0001 a0005c0013 a0006c0009 a0007c0005 a0008c0006 a0009c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0005c0013t0001 a0006c0009t0001 a0007c0005t0001 a0008c0006t0001 a0009c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(91): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0056 a0001c0001t0001g0083 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0002g0005 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0078 a0001c0001t0002g0192 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0003g0013 a0001c0001t0003g0194 a0001c0001t0003g0205 a0001c0001t0004g0173 a0001c0001t0005g0040 a0001c0001t0005g0170 a0001c0001t0005g0190 a0001c0001t0014g0040 a0001c0001t0016g0005 a0001c0001t0019g0002 a0001c0001t0020g0113 a0005c0013t0001g0174 a0006c0009t0001g0182 a0007c0005t0001g0225 a0008c0006t0001g0126 a0009c0007t0001g0002	169	372	0.4543	-20	c.-15 others(37): Show c.-15+6327_-15+6346delTAAATAAATAAATAAATAAA	BAHD1	ENSG00000140320.12	transcript	ENST00000416165.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
BAIAP2L1_chr7_98286650_98406090	98405328	GCTTGCTT others(13): Show GCTTGCTTGCTTGCTTGCTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG02630.hp1 HG03540.hp2 others(1): Show HG01993.hp1 HG02630.hp1 HG03540.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0206 a0001c0001t0002g0019 a0001c0001t0002g0021 others(1): Show a0001c0001t0001g0206 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0002t0001g0139	4	298	0.0134	-20	c.-44 others(31): Show c.-4496_-4477delAAAGCAAGCAAGCAAGCAAG	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding		4239		chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98405332	GCTTGCTT others(13): Show GCTTGCTTGCTTGCTTTCTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG01069.hp1 others(15): Show HG00323.hp2 HG00735.hp1 HG01069.hp1 HG01975.hp1 HG02074.hp1 HG02257.hp2 HG02451.hp1 HG02717.hp1 HG02738.hp2 HG02965.hp2 HG03492.hp1 HG03579.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 NA18947.hp1 NA18979.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0003t0008 a0001c0005t0005 a0001c0005t0012	a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0103 others(15): Show a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0103 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0108 a0001c0001t0004g0115 a0001c0001t0004g0126 a0001c0002t0001g0141 a0001c0002t0001g0163 a0001c0002t0001g0173 a0001c0002t0001g0178 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0002g0094 a0001c0003t0008g0123 a0001c0005t0005g0008 a0001c0005t0012g0083	18	298	0.0604	-20	c.-45 others(31): Show c.-4500_-4481delAAAGAAAGCAAGCAAGCAAG	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding		4243		chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98405336	GCTTGCTT others(13): Show GCTTGCTTGCTTTCTTTCTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG02723.hp1 NA18960.hp1 HG00280.hp1 HG02723.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0132 a0001c0002t0001g0155 a0001c0002t0001g0208 a0001c0001t0004g0132 a0001c0002t0001g0155 a0001c0002t0001g0208	3	298	0.0101	-20	c.-45 others(31): Show c.-4504_-4485delAAAGAAAGAAAGCAAGCAAG	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding		4247		chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98405340	GCTTGCTT others(13): Show GCTTGCTTTCTTTCTTTCTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0217	1	298	0.0034	-20	c.-45 others(31): Show c.-4508_-4489delAAAGAAAGAAAGAAAGCAAG	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding		4251		chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98405344	GCTTTCTT others(13): Show GCTTTCTTTCTTTCTTTCTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG03130.hp1 HG01243.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0048 a0001c0002t0001g0225 a0001c0001t0002g0048 a0001c0002t0001g0225	2	298	0.0067	-20	c.-45 others(31): Show c.-4512_-4493delAAAGAAAGAAAGAAAGAAAG	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding		4255		chr7	TogoVar
BAIAP2_chr17_81030151_81122434	81050750	CACATGCA others(13): Show CACATGCACACATGCATGTGT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0226 a0001c0003t0004g0226	1	376	0.0027	-20	c.55- others(35): Show c.55-2917_55-2898delACATGCACACATGCATGTGT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	1/13			chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81050752	CATGCACA others(13): Show CATGCACACATGCATGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	376	0.0027	-20	c.55- others(35): Show c.55-2904_55-2885delCATGTGTGTATGCACACATG	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81065287	AGCAGTGC others(13): Show AGCAGTGCTGTGCCCGTCCCG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0269 a0001c0001t0004g0269	1	376	0.0027	-20	c.217 others(37): Show c.217+7323_217+7342delAGTGCTGTGCCCGTCCCGGC	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81091044	CCCCGCCC others(13): Show CCCCGCCCCCACTTGTGTGGA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(79): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01123.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp1 HG04184.hp1 NA18939.hp2 NA18942.hp1 NA18946.hp1 NA18950.hp2 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18963.hp2 NA18964.hp1 NA18969.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18984.hp2 NA18993.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp2 NA19030.hp1 NA19057.hp1 NA19079.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0002c0012 a0002c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0035 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0035 a0001c0003t0001 a0001c0003t0016 a0002c0002t0002 a0002c0002t0021 a0002c0002t0025 a0002c0002t0026 a0002c0002t0031 a0002c0002t0032 a0002c0005t0002 a0002c0012t0002 a0002c0014t0007	a0001c0001t0001g0006 a0001c0001t0001g0052 a0001c0001t0001g0073 others(79): Show a0001c0001t0001g0006 a0001c0001t0001g0052 a0001c0001t0001g0073 a0001c0001t0001g0104 a0001c0001t0001g0178 a0001c0001t0001g0234 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0003g0071 a0001c0001t0035g0149 a0001c0003t0001g0107 a0001c0003t0001g0192 a0001c0003t0016g0193 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0031 a0002c0002t0002g0038 a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0070 a0002c0002t0002g0072 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0099 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0117 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0134 a0002c0002t0002g0145 a0002c0002t0002g0148 a0002c0002t0002g0163 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0278 a0002c0002t0002g0289 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0021g0055 a0002c0002t0025g0185 a0002c0002t0026g0160 a0002c0002t0031g0327 a0002c0002t0032g0128 a0002c0005t0002g0196 a0002c0005t0002g0229 a0002c0005t0002g0284 a0002c0005t0002g0285 a0002c0005t0002g0288 a0002c0012t0002g0325 a0002c0014t0007g0314	82	376	0.2181	-20	c.489 others(37): Show c.489+4483_489+4502delGACCCGCCCCCACTTGTGTG	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81093078	CCTGGGCT others(13): Show CCTGGGCTGGGCTGGGCTGGG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02630.hp2 HG02886.hp2 others(4): Show HG01884.hp1 HG02630.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0030 a0001c0001t0048	a0001c0001t0001g0040 a0001c0001t0003g0063 a0001c0001t0004g0011 others(4): Show a0001c0001t0001g0040 a0001c0001t0003g0063 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0030g0264 a0001c0001t0048g0352	7	376	0.0186	-20	c.489 others(37): Show c.489+6532_489+6551delGGCTGGGCTGGGCTGGGCTG	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81100340	TTCTTCTA others(13): Show TTCTTCTAGAATGTTCTTGGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00438.hp2 others(97): Show HG00099.hp1 HG00408.hp1 HG00438.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01192.hp2 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01928.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp2 HG02602.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp2 HG03130.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp2 NA18963.hp1 NA18966.hp1 NA18969.hp2 NA18975.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19091.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0003c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0030 a0001c0001t0036 a0001c0001t0038 a0001c0001t0042 a0001c0001t0045 a0001c0003t0001 a0001c0003t0041 a0001c0007t0001 a0003c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(97): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0156 a0001c0001t0001g0172 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0286 a0001c0001t0001g0293 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0322 a0001c0001t0001g0329 a0001c0001t0001g0349 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0358 a0001c0001t0001g0363 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0003g0063 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0005g0263 a0001c0001t0009g0019 a0001c0001t0009g0034 a0001c0001t0009g0054 a0001c0001t0015g0190 a0001c0001t0030g0264 a0001c0001t0036g0251 a0001c0001t0038g0033 a0001c0001t0042g0331 a0001c0001t0045g0351 a0001c0003t0001g0177 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0001g0194 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0216 a0001c0003t0001g0225 a0001c0003t0001g0227 a0001c0003t0041g0110 a0001c0007t0001g0360 a0001c0007t0001g0361 a0003c0010t0001g0373	100	376	0.2660	-20	c.642 others(35): Show c.642+267_642+286delAGAATGTTCTTGGCTCTTCT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81105092	CGGCAGGG others(13): Show CGGCAGGGGTCTCCCCCCAGT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG02055.hp1 others(15): Show HG00639.hp1 HG01074.hp2 HG02055.hp1 HG02109.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02965.hp1 HG03130.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 NA18522.hp1 NA18522.hp2 NA18977.hp2 NA19007.hp1 NA19043.hp2 NA19080.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0010 a0001c0001 a0001c0003 a0003c0010	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0001c0001t0019 a0001c0001t0045 a0001c0003t0001 a0003c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0052 others(15): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0052 a0001c0001t0001g0275 a0001c0001t0001g0294 a0001c0001t0001g0299 a0001c0001t0001g0322 a0001c0001t0001g0349 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0005g0263 a0001c0001t0015g0190 a0001c0001t0019g0342 a0001c0001t0019g0348 a0001c0001t0045g0351 a0001c0003t0001g0194 a0001c0003t0001g0207 a0003c0010t0001g0373	18	376	0.0479	-20	c.126 others(37): Show c.1268+389_1268+408delCCCCCCAGTGGCAGGGGTCT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81105149	CGGCAGGG others(13): Show CGGCAGGGGTCTCCCCCCAAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00621.hp2 others(71): Show HG00140.hp1 HG00280.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01433.hp1 HG01496.hp2 HG01891.hp2 HG01943.hp2 HG02132.hp2 HG02135.hp2 HG02280.hp2 HG02602.hp2 HG02698.hp1 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18943.hp2 NA18944.hp2 NA18949.hp1 NA18959.hp1 NA18960.hp2 NA18964.hp2 NA18970.hp1 NA18977.hp1 NA18977.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA19002.hp1 NA19004.hp1 NA19007.hp2 NA19056.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19079.hp1 NA19087.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0001c0011 a0001c0016	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 others(15): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0022 a0001c0001t0024 a0001c0001t0028 a0001c0001t0035 a0001c0001t0037 a0001c0001t0043 a0001c0001t0044 a0001c0003t0001 a0001c0003t0004 a0001c0003t0016 a0001c0003t0027 a0001c0003t0029 a0001c0009t0003 a0001c0011t0049 a0001c0016t0039	a0001c0001t0001g0006 a0001c0001t0001g0052 a0001c0001t0001g0073 others(70): Show a0001c0001t0001g0006 a0001c0001t0001g0052 a0001c0001t0001g0073 a0001c0001t0001g0104 a0001c0001t0001g0178 a0001c0001t0001g0234 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0004g0001 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0032 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0058 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0065 a0001c0001t0004g0083 a0001c0001t0004g0092 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0155 a0001c0001t0004g0165 a0001c0001t0004g0246 a0001c0001t0004g0254 a0001c0001t0004g0269 a0001c0001t0004g0273 a0001c0001t0004g0292 a0001c0001t0004g0328 a0001c0001t0004g0359 a0001c0001t0004g0362 a0001c0001t0004g0364 a0001c0001t0018g0341 a0001c0001t0022g0291 a0001c0001t0024g0182 a0001c0001t0028g0350 a0001c0001t0035g0149 a0001c0001t0037g0326 a0001c0001t0043g0179 a0001c0001t0044g0059 a0001c0003t0001g0107 a0001c0003t0001g0192 a0001c0003t0004g0102 a0001c0003t0004g0108 a0001c0003t0004g0162 a0001c0003t0004g0174 a0001c0003t0004g0210 a0001c0003t0004g0217 a0001c0003t0004g0221 a0001c0003t0004g0224 a0001c0003t0004g0226 a0001c0003t0004g0228 a0001c0003t0004g0282 a0001c0003t0016g0193 a0001c0003t0027g0222 a0001c0003t0029g0223 a0001c0009t0003g0198 a0001c0009t0003g0219 a0001c0011t0049g0347 a0001c0016t0039g0295	74	376	0.1968	-20	c.126 others(37): Show c.1268+458_1268+477delAGGGGTCTCCCCCCAATGGC	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BANK1_chr4_101785730_102079812	101839937	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01361.hp1 HG02109.hp2 others(1): Show HG01175.hp2 HG01361.hp1 HG02109.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 others(1): Show a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0002t0003g0258	4	284	0.0141	-20	c.469 others(37): Show c.469+9761_469+9780delTTTTTTTTTTTTTTTTTTTT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101986835	ATATATAT others(13): Show ATATATATGTGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18978.hp2 NA19005.hp1 others(1): Show HG02027.hp1 NA18978.hp2 NA19005.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0069 a0001c0001t0001g0160 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0069 a0001c0001t0001g0160 a0001c0001t0001g0163	4	284	0.0141	-20	c.120 others(41): Show c.1207-34671_1207-34652delGTGTATATATATGTATATAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANP_chr16_87946434_88082316	87948974	CAAACAAA others(13): Show CAAACAAAACAAAACAAAACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp2 others(84): Show HG00140.hp1 HG00140.hp2 HG00438.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01192.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG01978.hp2 HG01993.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp2 HG03942.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18949.hp1 NA18984.hp1 NA18988.hp2 NA18989.hp2 NA19002.hp2 NA19030.hp2 NA19043.hp2 NA19060.hp1 NA19065.hp1 NA19085.hp1 NA19088.hp1 NA19091.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0014 a0001c0016 a0001c0020 a0001c0026 a0001c0027 a0001c0030 a0002c0003 a0002c0018	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 others(18): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0004t0004 a0001c0004t0012 a0001c0006t0002 a0001c0007t0001 a0001c0007t0005 a0001c0008t0001 a0001c0009t0005 a0001c0010t0007 a0001c0011t0005 a0001c0014t0001 a0001c0016t0005 a0001c0020t0007 a0001c0026t0004 a0001c0027t0007 a0001c0030t0001 a0002c0003t0003 a0002c0003t0010 a0002c0018t0016	a0001c0001t0001g0106 a0001c0001t0001g0251 a0001c0001t0001g0252 others(84): Show a0001c0001t0001g0106 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0005g0253 a0001c0002t0002g0329 a0001c0002t0002g0330 a0001c0004t0004g0115 a0001c0004t0004g0125 a0001c0004t0004g0126 a0001c0004t0004g0129 a0001c0004t0004g0130 a0001c0004t0004g0131 a0001c0004t0004g0132 a0001c0004t0004g0136 a0001c0004t0004g0137 a0001c0004t0004g0138 a0001c0004t0004g0139 a0001c0004t0004g0142 a0001c0004t0004g0143 a0001c0004t0004g0144 a0001c0004t0004g0145 a0001c0004t0004g0148 a0001c0004t0004g0150 a0001c0004t0004g0152 a0001c0004t0004g0153 a0001c0004t0004g0154 a0001c0004t0004g0155 a0001c0004t0004g0157 a0001c0004t0004g0166 a0001c0004t0004g0167 a0001c0004t0004g0348 a0001c0004t0004g0349 a0001c0004t0012g0135 a0001c0004t0012g0140 a0001c0006t0002g0337 a0001c0007t0001g0093 a0001c0007t0001g0094 a0001c0007t0001g0116 a0001c0007t0001g0117 a0001c0007t0001g0118 a0001c0007t0001g0339 a0001c0007t0005g0088 a0001c0008t0001g0275 a0001c0008t0001g0347 a0001c0009t0005g0096 a0001c0009t0005g0097 a0001c0009t0005g0098 a0001c0009t0005g0099 a0001c0009t0005g0100 a0001c0009t0005g0102 a0001c0010t0007g0127 a0001c0010t0007g0149 a0001c0010t0007g0151 a0001c0010t0007g0156 a0001c0010t0007g0158 a0001c0010t0007g0159 a0001c0011t0005g0345 a0001c0011t0005g0346 a0001c0014t0001g0092 a0001c0014t0001g0095 a0001c0016t0005g0344 a0001c0020t0007g0141 a0001c0020t0007g0147 a0001c0026t0004g0133 a0001c0027t0007g0090 a0001c0030t0001g0084 a0002c0003t0003g0278 a0002c0003t0003g0284 a0002c0003t0003g0292 a0002c0003t0003g0293 a0002c0003t0003g0294 a0002c0003t0003g0328 a0002c0003t0003g0334 a0002c0003t0003g0336 a0002c0003t0003g0338 a0002c0003t0003g0343 a0002c0003t0010g0285 a0002c0018t0016g0134	87	352	0.2472	-20	c.-26 others(31): Show c.-2609_-2590delAAACAAAACAAAACAAAACA	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding		2459		chr16	TogoVar
BARHL2_chr1_90706539_90722302	90709320	GAGGGAGG others(13): Show GAGGGAGGGAGGAAGGAAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00558.hp1 others(42): Show HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00733.hp1 HG01192.hp2 HG01256.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02132.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02523.hp1 NA18612.hp1 NA18939.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp2 NA18961.hp2 NA18962.hp2 NA18971.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA19001.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19057.hp2 NA19058.hp2 NA19062.hp2 NA19066.hp2 NA19070.hp2 NA19076.hp1 NA19078.hp1 NA19080.hp1 NA19084.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0018 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0062 a0001c0001t0001g0088 a0001c0005t0001g0089	45	446	0.1009	-20	c.29 others(31): Show c.2972_*2991delTCCTTCCTTCCTCCCTCCCT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		2218		chr1	TogoVar
BARHL2_chr1_90706539_90722302	90709328	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp1 others(163): Show HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02572.hp1 HG02698.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18951.hp1 NA18952.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19058.hp1 NA19059.hp1 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0010 a0003c0008 a0001c0001 a0001c0010 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0010t0001 a0003c0008t0002	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0020 others(34): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0064 a0001c0001t0001g0096 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0071 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0005g0083 a0001c0001t0007g0103 a0001c0010t0001g0102 a0003c0008t0002g0065	166	446	0.3722	-20	c.29 others(31): Show c.2964_*2983delTCCTTCCTTCCTTCCTTCCT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		2210		chr1	TogoVar
BATF2_chr11_64982945_65001971	65000934	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01074.hp1 HG01081.hp1 HG00099.hp2 HG01074.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	404	0.0074	-20	c.-40 others(31): Show c.-4040_-4021delAAGAAAGAAAGAAAGAAAGA	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		3964		chr11	TogoVar
BATF3_chr1_212681417_212704840	212687996	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA19080.hp2 HG02155.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0087 a0001c0001t0001g0090	2	462	0.0043	-20	c.196 others(37): Show c.196-1037_196-1018delCCTTCCTTCCTTCCTTCCTT	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding	2/2			chr1	TogoVar
BAZ1A_chr14_34747731_34880360	34836378	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01496.hp1 HG02818.hp1 others(4): Show HG00738.hp1 HG01496.hp1 HG02818.hp1 HG03209.hp2 HG03471.hp2 HG03579.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0006 a0001c0001t0001 a0001c0005t0006	a0001c0001t0001g0327 a0001c0005t0006g0197 a0001c0005t0006g0198 others(4): Show a0001c0001t0001g0327 a0001c0005t0006g0197 a0001c0005t0006g0198 a0001c0005t0006g0199 a0001c0005t0006g0201 a0001c0005t0006g0202 a0001c0005t0006g0203	7	380	0.0184	-20	c.393 others(39): Show c.393-10242_393-10223delTTTTTTTTTTTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ2B_chr2_159313979_159621548	159324625	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG02717.hp2 others(6): Show HG01168.hp1 HG01169.hp2 HG02717.hp2 HG02965.hp2 HG03209.hp2 HG03540.hp1 HG03579.hp1 HG04184.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 a0001c0001 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0002c0002t0001 a0002c0007t0002	a0001c0001t0001g0019 a0001c0001t0001g0105 a0001c0001t0001g0113 others(6): Show a0001c0001t0001g0019 a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0002g0148 a0001c0001t0002g0158 a0001c0001t0002g0172 a0001c0001t0009g0132 a0002c0002t0001g0128 a0002c0007t0002g0135	9	216	0.0417	-20	c.635 others(37): Show c.6353+166_6353+185delGTGTGTGTGTGTGTGTGTGT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	36/36			chr2	TogoVar
BBOF1_chr14_74014349_74071092	74028467	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02083.hp2 HG02523.hp2 others(9): Show HG00408.hp1 HG02083.hp2 HG02523.hp2 NA18946.hp1 NA18948.hp2 NA18954.hp1 NA18957.hp1 NA18975.hp1 NA19002.hp1 NA19055.hp2 NA19090.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 others(9): Show a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357	12	386	0.0311	-20	c.286 others(35): Show c.286-691_286-672delCACACACACACACACACACA	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74036954	CTTTTTTT others(13): Show CTTTTTTTTTTTCTTTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp2 HG02572.hp2 HG02647.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0007 a0004c0009t0007	a0004c0009t0007g0138 a0004c0009t0007g0140 a0004c0009t0007g0138 a0004c0009t0007g0140	2	386	0.0052	-20	c.495 others(37): Show c.495+2795_495+2814delCTTTTTTCTTTTTTTTTTTT	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBS4_chr15_72681207_72743473	72742964	AAGGAGAA others(13): Show AAGGAGAAAATCAGTGATAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02572.hp1 HG02647.hp1 HG02145.hp1 HG02572.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0009 a0001c0003t0001g0011 a0001c0003t0001g0006 a0001c0003t0001g0009 a0001c0003t0001g0011	3	398	0.0075	-20	c.53 others(31): Show c.5378_*5397delAGGAGAAAATCAGTGATAAC	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding		4492		chr15	TogoVar
BBS5_chr2_169474494_169511655	169489851	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19030.hp2 NA19075.hp1 others(3): Show NA18906.hp1 NA19030.hp2 NA19075.hp1 NA19087.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0080 a0001c0001t0002g0114 others(1): Show a0001c0001t0002g0018 a0001c0001t0002g0080 a0001c0001t0002g0114 a0001c0001t0002g0116	6	398	0.0151	-20	c.386 others(37): Show c.386+1759_386+1778delTTTTTTTTTTTTTTTTTTTT	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BBS9_chr7_33124564_33611069	33294290	CATCTATC others(13): Show CATCTATCTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG01106.hp2 others(9): Show HG00140.hp2 HG00544.hp2 HG01106.hp2 HG01255.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG02559.hp2 HG02818.hp1 HG02965.hp2 HG02970.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0013	a0001c0001 a0001c0021 a0002c0002 others(2): Show a0001c0001 a0001c0021 a0002c0002 a0004c0004 a0013c0019	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0021t0001 a0002c0002t0007 a0004c0004t0001 a0013c0019t0003	a0001c0001t0001g0225 a0001c0001t0001g0249 a0001c0001t0006g0243 others(9): Show a0001c0001t0001g0225 a0001c0001t0001g0249 a0001c0001t0006g0243 a0001c0001t0008g0210 a0001c0001t0009g0214 a0001c0001t0010g0170 a0001c0001t0012g0212 a0001c0001t0012g0213 a0001c0021t0001g0251 a0002c0002t0007g0165 a0004c0004t0001g0183 a0013c0019t0003g0250	12	268	0.0448	-20	c.101 others(41): Show c.1016+20379_1016+20398delATCTATCTATCTATCTATCT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar

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