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
ANGPT1_chr8_107244482_107502918	107370407	A A	AGAAAGAA others(46): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG GAAG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp2 NA19004.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0282 a0001c0001t0001g0043 a0001c0001t0001g0282	2	292	0.0069	53	c.298 others(72): Show c.298-23311_298-23310insCTTCCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTC	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANK3_chr10_60021298_60394875	60226524	T T	TATAGTAT others(46): Show TATAGTATATATACATAGTATATATACTATAGTATATATACATAGTATAT ATAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19030.hp1 HG03130.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0075 a0001c0001t0002g0043 a0001c0001t0002g0075	2	192	0.0104	53	c.897 others(70): Show c.897+8163_897+8164insGTATATATACTATGTATATATACTATAG TATATATACTATGTATATATACTAT	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	8/43			chr10	TogoVar
ANKDD1B_chr5_75606453_75676846	75612322	C C	CCCCCGCC others(46): Show CCCCCGCCCTCCGCCCCGCCCCCGCCCTCCGCCCCGCCCCCGCCCTCCGC CCCG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG06807.hp2 others(8): Show HG01069.hp1 HG01071.hp1 HG06807.hp2 NA18948.hp2 NA18968.hp2 NA19002.hp1 NA19009.hp1 NA19058.hp2 NA19060.hp1 NA19070.hp1 NA19074.hp1	a0005 a0012 a0005 a0012	a0005c0004 a0012c0013 a0005c0004 a0012c0013	a0005c0004t0003 a0012c0013t0003 a0005c0004t0003 a0012c0013t0003	a0005c0004t0003g0005 a0005c0004t0003g0019 a0005c0004t0003g0180 others(4): Show a0005c0004t0003g0005 a0005c0004t0003g0019 a0005c0004t0003g0180 a0005c0004t0003g0181 a0005c0004t0003g0182 a0012c0013t0003g0018 a0012c0013t0003g0179	11	372	0.0296	53	c.193 others(68): Show c.193+499_193+500insGCCCTCCGCCCCGCCCCCGCCCTCCGCCCC GCCCCCGCCCTCCGCCCCGCCCC	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD24_chr19_4177689_4229814	4193845	G G	GAGGGAGG others(46): Show GAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0017 a0017	a0017c0026 a0017c0026	a0017c0026t0001 a0017c0026t0001	a0017c0026t0001g0078 a0017c0026t0001g0078	1	356	0.0028	53	c.37- others(68): Show c.37-5835_37-5834insGAGGGAGGGAGGGAGGGAGGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD24_chr19_4177689_4229814	4193845	G G	GAGGGAGG others(46): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGA AGGA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0066 a0003c0003t0001g0066	1	356	0.0028	53	c.37- others(68): Show c.37-5835_37-5834insGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAAGGAAGGAAGGAAGG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD24_chr19_4177689_4229814	4193845	G G	GAGGGAGG others(46): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGA AGGA	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18954.hp1 HG01934.hp2 NA18954.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0004 a0001c0002 a0004c0004	a0001c0002t0001 a0004c0004t0001 a0001c0002t0001 a0004c0004t0001	a0001c0002t0001g0060 a0004c0004t0001g0036 a0001c0002t0001g0060 a0004c0004t0001g0036	2	356	0.0056	53	c.37- others(68): Show c.37-5835_37-5834insGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAAGGAAGGAAGG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD24_chr19_4177689_4229814	4193845	G G	GAGGGAGG others(46): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA AGGA	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18993.hp1 NA19011.hp2 others(1): Show HG02155.hp1 NA18993.hp1 NA19011.hp2 NA19070.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0024	a0001c0023 a0002c0001 a0003c0003 others(1): Show a0001c0023 a0002c0001 a0003c0003 a0024c0040	a0001c0023t0001 a0002c0001t0001 a0003c0003t0001 others(1): Show a0001c0023t0001 a0002c0001t0001 a0003c0003t0001 a0024c0040t0001	a0001c0023t0001g0041 a0002c0001t0001g0019 a0003c0003t0001g0068 others(1): Show a0001c0023t0001g0041 a0002c0001t0001g0019 a0003c0003t0001g0068 a0024c0040t0001g0037	4	356	0.0112	53	c.37- others(68): Show c.37-5835_37-5834insGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAAGGAAGG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD24_chr19_4177689_4229814	4193845	G G	GAGGGAGG others(46): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02523.hp2 HG02922.hp1 others(1): Show HG01891.hp1 HG02523.hp2 HG02922.hp1 NA19079.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0002 a0001c0012 a0004c0004 others(1): Show a0001c0002 a0001c0012 a0004c0004 a0006c0007	a0001c0002t0001 a0001c0012t0003 a0004c0004t0001 others(1): Show a0001c0002t0001 a0001c0012t0003 a0004c0004t0001 a0006c0007t0001	a0001c0002t0001g0044 a0001c0012t0003g0043 a0004c0004t0001g0042 others(1): Show a0001c0002t0001g0044 a0001c0012t0003g0043 a0004c0004t0001g0042 a0006c0007t0001g0102	4	356	0.0112	53	c.37- others(68): Show c.37-5835_37-5834insGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAAGG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD24_chr19_4177689_4229814	4193846	A A	AGGGAGGG others(46): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0269 a0002c0001t0002g0269	1	356	0.0028	53	c.37- others(68): Show c.37-5835_37-5834insGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD26_chr10_26999116_27105494	27104818	C C	CAAAAAAA others(46): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	358	0.0028	53	c.-44 others(64): Show c.-4493_-4492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	ANKRD26	ENSG00000107890.17	transcript	ENST00000376087.5	protein_coding		4325		chr10	TogoVar
ANKRD27_chr19_32592006_32680180	32656103	G G	GAAAGAAA others(46): Show GAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0167 a0001c0009t0003g0167	1	348	0.0029	53	c.102 others(70): Show c.102+2810_102+2811insTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTCTTTCTTT	ANKRD27	ENSG00000105186.16	transcript	ENST00000306065.9	protein_coding	2/28			chr19	TogoVar
ANKRD45_chr1_173603336_173674851	173613562	G G	GCCCCCGC others(46): Show GCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCC CCCC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG03130.hp1 HG03225.hp2 HG01070.hp1 HG03130.hp1 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0016 a0002c0002t0003 a0002c0002t0016	a0002c0002t0003g0027 a0002c0002t0003g0038 a0002c0002t0016g0302 a0002c0002t0003g0027 a0002c0002t0003g0038 a0002c0002t0016g0302	3	342	0.0088	53	c.731 others(70): Show c.731-3348_731-3347insGGGGGGCTGACCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGG	ANKRD45	ENSG00000183831.7	transcript	ENST00000333279.3	protein_coding	5/5			chr1	TogoVar
ANXA5_chr4_121662946_121701980	121665664	C C	CCCTCCCT others(46): Show CCCTCCCTCCCTCCCGTCTTCCCTTCCTCCCTTCCTCCCTCCCTTCCTTC CTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0112 a0001c0001t0005g0112	1	338	0.0030	53	c.28 others(64): Show c.2803_*2804insAAAGGAAGGAAGGGAGGGAGGAAGGGAGGAAGGG AAGACGGGAGGGAGGGAGG	ANXA5	ENSG00000164111.15	transcript	ENST00000296511.10	protein_coding		2281		chr4	TogoVar
AP1S2_chrX_15820806_15859813	15834479	T T	TATATATA others(46): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TATA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	318	0.0031	53	c.427 others(70): Show c.427-6280_427-6279insTATATATATATATATATATATATATATA TATATATATATATATATATATATAT	AP1S2	ENSG00000182287.15	transcript	ENST00000672987.1	protein_coding	4/5			chrX	TogoVar
AP3S2_chr15_89825599_89898994	89854579	C C	CGGCCCCC others(46): Show CGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGG GGTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0303 a0001c0001t0045g0303	1	312	0.0032	53	c.346 others(72): Show c.346-16858_346-16857insAACCCCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
APLP2_chr11_130064894_130149805	130090900	C C	CCCCCCCC others(46): Show CCCCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCC GACA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	274	0.0037	53	c.106 others(72): Show c.106-18524_106-18523insCCCATCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGGCCGACACCCCC	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
AQP1_chr7_30906853_30930516	30918479	T T	TAAAACAA others(46): Show TAAAACAAAAAATAAGCCCCCCCGCACAGTCCCCCACCCCCCCCCCCCCC TCCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	432	0.0023	53	c.385 others(70): Show c.385-3587_385-3586insAAAACAAAAAATAAGCCCCCCCGCACAG TCCCCCACCCCCCCCCCCCCCTCCC	AQP1	ENSG00000240583.14	transcript	ENST00000311813.11	protein_coding	1/3			chr7	TogoVar
ARC_chr8_142606049_142619479	142609980	C C	CGCAGCCC others(46): Show CGCAGCCCCTCGGAATCCAGTGTCCCCCACAAAGTCAGGGGAGGCTGACG TCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0027 a0004c0009t0003g0027	1	420	0.0024	53	c.26 others(64): Show c.2619_*2620insAGGACGTCAGCCTCCCCTGACTTTGTGGGGGACA CTGGATTCCGAGGGGCTGC	ARC	ENSG00000198576.4	transcript	ENST00000356613.4	protein_coding		1068		chr8	TogoVar
ARGFX_chr3_121562949_121595622	121574910	G G	GAAGAAAG others(46): Show GAAGAAAGTTCAGAAAATTGATATGTTTGAAGACCAAATGTATGTACAAA ATTA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0064 a0001c0001t0016g0064	1	410	0.0024	53	c.104 others(70): Show c.104-1825_104-1824insATTAAAGAAAGTTCAGAAAATTGATATG TTTGAAGACCAAATGTATGTACAAA	ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARHGAP21_chr10_24578614_24728887	24656938	T T	TGGGGGGG others(46): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCCGCCCCGTCCGGGAGGGAGG TGGG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0208 a0003c0003t0001g0208	1	352	0.0028	53	c.268 others(72): Show c.268+10046_268+10047insCCCACCTCCCTCCCGGACGGGGCGGG CTGGCCGGGCGGGGGGCCGACCCCCCC	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25			chr10	TogoVar
ARHGAP21_chr10_24578614_24728887	24656938	T T	TGGGGGGG others(46): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03453.hp2 NA18974.hp2 others(1): Show HG03225.hp1 HG03453.hp2 NA18974.hp2 NA19088.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0003c0003 a0009c0008 a0001c0001 a0003c0003 a0009c0008	a0001c0001t0001 a0001c0001t0003 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0003c0003t0001 a0009c0008t0001	a0001c0001t0001g0220 a0001c0001t0003g0216 a0003c0003t0001g0221 others(1): Show a0001c0001t0001g0220 a0001c0001t0003g0216 a0003c0003t0001g0221 a0009c0008t0001g0262	4	352	0.0114	53	c.268 others(72): Show c.268+10046_268+10047insCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCC	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25			chr10	TogoVar
ARHGAP26_chr5_142765377_143234007	142949204	A A	AGAGAGAG others(46): Show AGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAG AGAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	198	0.0051	53	c.110 others(74): Show c.1107+17092_1107+17093insGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGGAGAGAGGAGAGAGAGAGAG	ARHGAP26	ENSG00000145819.18	transcript	ENST00000645722.2	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGAP26_chr5_142765377_143234007	142949232	G G	GAGAGAGA others(46): Show GAGAGAGAGAGAGAGAGAGAGGAGAGAGGAGAGAGAGAGAGAGAGAGAGA GAGA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	198	0.0051	53	c.110 others(74): Show c.1107+17107_1107+17108insAGAGAGAGAGAGAGAGAGAGGAGA GAGGAGAGAGAGAGAGAGAGAGAGAGAGA	ARHGAP26	ENSG00000145819.18	transcript	ENST00000645722.2	protein_coding	11/22			chr5	TogoVar
ARHGEF10_chr8_1818926_1963641	1955149	A A	ATGGGTAG others(46): Show ATGGGTAGCCAGGTGCTTCCTGAAAGGAGGTGCACTCTCACTGTTCCTCT GGAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03540.hp2 HG02647.hp1 HG03540.hp2	a0001 a0001	a0001c0100 a0001c0157 a0001c0100 a0001c0157	a0001c0100t0072 a0001c0157t0006 a0001c0100t0072 a0001c0157t0006	a0001c0100t0072g0199 a0001c0157t0006g0093 a0001c0100t0072g0199 a0001c0157t0006g0093	2	363	0.0055	53	c.352 others(72): Show c.3521-1600_3521-1599insTGGGTAGCCAGGTGCTTCCTGAAAGG AGGTGCACTCTCACTGTTCCTCTGGAT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1955149	A A	ATGGGTAG others(46): Show ATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCACTGTGTTTCTCT GGAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03453.hp1 HG02615.hp2 HG03453.hp1	a0001 a0003 a0001 a0003	a0001c0016 a0003c0038 a0001c0016 a0003c0038	a0001c0016t0014 a0003c0038t0019 a0001c0016t0014 a0003c0038t0019	a0001c0016t0014g0343 a0003c0038t0019g0266 a0001c0016t0014g0343 a0003c0038t0019g0266	2	363	0.0055	53	c.352 others(72): Show c.3521-1600_3521-1599insTGGGTAGCTAGGTGCTCCCTGAAAGG AGGTGCACTCACTGTGTTTCTCTGGAT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28			chr8	TogoVar
ARID3A_chr19_921035_980939	979774	G G	GCTCTCCC others(46): Show GCTCTCCCCAGCCAGGGAGGGACTCAGCCCCCCACCTCCTCCCCAGGCCC CCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0122 a0001c0003t0122	a0001c0003t0122g0349 a0001c0003t0122g0349	1	364	0.0028	53	c.77 others(64): Show c.7709_*7710insCTCTCCCCAGCCAGGGAGGGACTCAGCCCCCCAC CTCCTCCCCAGGCCCCCAC	ARID3A	ENSG00000116017.11	transcript	ENST00000263620.8	protein_coding		3836		chr19	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(46): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT ATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0029 a0001c0002t0002g0029	1	434	0.0023	53	c.62 others(64): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAAAAAAATATATATATA TATATATATATATATATAT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(46): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT ATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA20905.hp1 NA19030.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0268 a0001c0002t0002g0031 a0001c0002t0002g0268	2	434	0.0046	53	c.62 others(64): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAAAAATATATATATATA TATATATATATATATATAT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(46): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT ATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0278 a0001c0002t0002g0278	1	434	0.0023	53	c.62 others(64): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAAATATATATATATATA TATATATATATATATATAT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(46): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT ATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	434	0.0023	53	c.62 others(64): Show c.6217_*6218insAAAAAAAAAAAAAAAAAATATATATATATATATA TATATATATATATATATAT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARMC2_chr6_108843422_108979476	108881296	C C	CCCTCCCC others(46): Show CCCTCCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0089 a0001c0001t0005g0089	1	290	0.0035	53	c.671 others(70): Show c.671+4949_671+4950insCCCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCT	ARMC2	ENSG00000118690.13	transcript	ENST00000392644.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARRDC2_chr19_18003170_18019102	18016216	A A	AGAGAGAG others(46): Show AGAGAGAGAAAGAGAAACAAAGGGAAGAGGAAGGAAGGGAGGGAGGGAGG GAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG02055.hp1 HG02109.hp2 others(17): Show HG01358.hp1 HG02055.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp1 HG02572.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp1 HG02970.hp2 HG03209.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG04204.hp2 NA19030.hp1 NA19043.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0008c0010 a0009c0011	a0001c0001t0001 a0002c0002t0013 a0002c0003t0004 others(2): Show a0001c0001t0001 a0002c0002t0013 a0002c0003t0004 a0008c0010t0004 a0009c0011t0001	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0016 others(12): Show a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0080 a0002c0002t0013g0054 a0002c0003t0004g0008 a0002c0003t0004g0083 a0008c0010t0004g0010 a0009c0011t0001g0002	20	414	0.0483	53	c.32 others(64): Show c.3250_*3251insGAGAGAGAAAGAGAAACAAAGGGAAGAGGAAGGA AGGGAGGGAGGGAGGGAGG	ARRDC2	ENSG00000105643.11	transcript	ENST00000222250.5	protein_coding		2115		chr19	TogoVar
ARRDC2_chr19_18003170_18019102	18016256	G G	GAGGGAGG others(46): Show GAGGGAGGGAGGGAGGGAGAGAGAGAGAAAGAGAAACAAAGGGAAGAGGA AGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0003 a0002c0002t0003g0003	1	414	0.0024	53	c.32 others(64): Show c.3290_*3291insAGGGAGGGAGGGAGGGAGAGAGAGAGAAAGAGAA ACAAAGGGAAGAGGAAGGA	ARRDC2	ENSG00000105643.11	transcript	ENST00000222250.5	protein_coding		2155		chr19	TogoVar
ART5_chr11_3633512_3646992	3641645	T T	TCCCTGCA others(46): Show TCCCTGCAGAGATGGAGTTTCCTGAGAGGAAGAGAGTTAAGAGTGGAATC CTAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	454	0.0022	53	c.57+ others(66): Show c.57+160_57+161insCTAGGATTCCACTCTTAACTCTCTTCCTCTCA GGAAACTCCATCTCTGCAGGG	ART5	ENSG00000167311.14	transcript	ENST00000397068.8	protein_coding	1/3			chr11	TogoVar
ASAH2_chr10_50179861_50256516	50251595	T T	TTAAAGAG others(46): Show TTAAAGAGTATTGATAACAAAAGGCTTATACATGAACTCTCTCTTAGGGC AGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0089 a0001c0002t0003g0089	1	408	0.0025	53	c.-29 others(62): Show c.-290_-238dupGTCTGCCCTAAGAGAGAGTTCATGTATAAGCCTTTT GTTATCAATACTCTTTA	ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding		80		chr10	TogoVar
ASH2L_chr8_38100529_38145080	38113807	T T	TTTGGGGT others(46): Show TTTGGGGTTGGGGGGGTGGGTTGGGGGGGGGGGGGGGGGGTTGGTGGGTT GGGG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	330	0.0030	53	c.586 others(68): Show c.586-382_586-381insGGGTTGGGGGGGTGGGTTGGGGGGGGGGGG GGGGGGTTGGTGGGTTGGGGTTG	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATE1_chr10_121735424_121933031	121858660	A A	ATATATAT others(46): Show ATATATATATAATATATATATTTTATACATATAATATATATATAATATAT ATTT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0238 a0001c0002t0007g0238	1	320	0.0031	53	c.975 others(72): Show c.975+11345_975+11346insAAATATATATTATATATATATTATAT GTATAAAATATATATATTATATATATA	ATE1	ENSG00000107669.19	transcript	ENST00000224652.12	protein_coding	8/11			chr10	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCCTT others(46): Show CTTTCCTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0122 a0002c0002t0008g0122	1	226	0.0044	53	c.108 others(70): Show c.108+5681_108+5682insTTTCCTTCTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112803899	C C	CCCTCCTT others(46): Show CCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCC TTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0228 a0001c0004t0006g0228	1	254	0.0039	53	c.163 others(69): Show c.163-1050_163-998dupCACCTCCCTCCCCCCATCCCCTCTCTGCC CTCCTTCCCCTCCTTTTCCTCCTT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804042	T T	TCCCCTCC others(46): Show TCCCCTCCTTTTCCTCCTTCCCTCCCTCCCCCCATCCCCTCTCTGCCCTC CTTC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03239.hp2 HG03834.hp1 HG00733.hp2 HG03239.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0015 a0001c0001t0001g0244 a0001c0002t0006g0014 a0001c0001t0001g0015 a0001c0001t0001g0244 a0001c0002t0006g0014	3	254	0.0118	53	c.163 others(68): Show c.163-912_163-911insCTCCTTTTCCTCCTTCCCTCCCTCCCCCCA TCCCCTCTCTGCCCTCCTTCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804365	C C	CCCTCCTT others(46): Show CCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCC TTTT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0202 a0001c0001t0022g0202	1	254	0.0039	53	c.163 others(68): Show c.163-583_163-531dupACCTCCCTCCCCCCATCCCCTCTCTGCCCT CCTTCCCCTCCTTTTCCTCCTTC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112865154	A A	AGCACGTG others(46): Show AGCACGTGCAGCTTCCCAGCGGGGTCCATCACCACATGGGCAGTAATTCA GTGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0050 a0001c0004t0050	a0001c0004t0050g0033 a0001c0004t0050g0033	1	254	0.0039	53	c.299 others(72): Show c.2991+2580_2991+2581insCACGTGCAGCTTCCCAGCGGGGTCCA TCACCACATGGGCAGTAATTCAGTGCG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9A_chr20_51591514_51773390	51651336	A A	ATATATTA others(46): Show ATATATTATATAATATATATTTACATTATATATTATATAATATATATTTA CATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0063 a0001c0001t0004g0063	1	312	0.0032	53	c.150 others(72): Show c.1506+5601_1506+5602insAATGTAAATATATATTATATAATATA TAATGTAAATATATATTATATAATATA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51651337	A A	ATATATTA others(46): Show ATATATTATATAATATATATTTACATTATATATTATATAATATATATTTA CATT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp2 NA18968.hp2 others(1): Show HG00408.hp1 HG00673.hp2 NA18968.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0077 a0001c0001t0001g0298 a0001c0001t0001g0303 others(1): Show a0001c0001t0001g0077 a0001c0001t0001g0298 a0001c0001t0001g0303 a0001c0001t0018g0239	4	312	0.0128	53	c.150 others(72): Show c.1506+5600_1506+5601insAATGTAAATATATATTATATAATATA TAATGTAAATATATATTATATAATATA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(46): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	298	0.0034	53	c.119 others(70): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AXIN1_chr16_282440_357723	318897	A A	AGCCAGGG others(46): Show AGCCAGGGCCTTGGTGAGAGCGGCTCTGACCCCTGGCTGTGCGGAGAGAA TGCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(104): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01257.hp1 HG01261.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02698.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18940.hp2 NA18948.hp1 NA18952.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18972.hp1 NA18974.hp1 NA18978.hp1 NA18982.hp1 NA18984.hp2 NA18986.hp2 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19056.hp2 NA19058.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp1 NA20905.hp2	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0019 a0007c0022 a0009c0020	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(12): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0016 a0001c0001t0018 a0001c0001t0030 a0001c0001t0043 a0001c0002t0001 a0001c0003t0004 a0001c0003t0027 a0001c0004t0001 a0001c0010t0001 a0001c0019t0005 a0007c0022t0001 a0009c0020t0009	a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0084 others(103): Show a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0361 a0001c0001t0001g0364 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0005g0306 a0001c0001t0005g0327 a0001c0001t0005g0343 a0001c0001t0005g0345 a0001c0001t0005g0365 a0001c0001t0009g0003 a0001c0001t0009g0371 a0001c0001t0009g0372 a0001c0001t0009g0373 a0001c0001t0009g0375 a0001c0001t0016g0298 a0001c0001t0016g0299 a0001c0001t0016g0319 a0001c0001t0018g0037 a0001c0001t0018g0038 a0001c0001t0030g0007 a0001c0001t0043g0336 a0001c0002t0001g0171 a0001c0003t0004g0301 a0001c0003t0027g0194 a0001c0004t0001g0187 a0001c0004t0001g0228 a0001c0010t0001g0294 a0001c0010t0001g0295 a0001c0010t0001g0309 a0001c0019t0005g0347 a0007c0022t0001g0288 a0009c0020t0009g0374	107	378	0.2831	53	c.879 others(70): Show c.879-4215_879-4214insCGCATTCTCTCCGCACAGCCAGGGGTCA GAGCCGCTCTCACCAAGGCCCTGGC	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
AXIN1_chr16_282440_357723	318897	A A	AGCCGGGG others(46): Show AGCCGGGGCCTTGGTGAGAGCGGCTCTGACCCCTGGCTGTGCAGAGAGAA TGCG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01261.hp2 HG01361.hp1 others(19): Show HG00642.hp1 HG01261.hp2 HG01361.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG02055.hp1 HG02055.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp2 HG02717.hp1 HG02965.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03579.hp1 HG06807.hp2 NA18959.hp1 NA19030.hp1 NA21309.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0014 a0002c0006 a0002c0026 a0010c0025	a0001c0001t0001 a0001c0003t0013 a0001c0004t0001 others(9): Show a0001c0001t0001 a0001c0003t0013 a0001c0004t0001 a0001c0004t0014 a0001c0004t0023 a0001c0004t0026 a0001c0004t0042 a0001c0014t0020 a0002c0006t0001 a0002c0006t0025 a0002c0026t0025 a0010c0025t0033	a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 others(19): Show a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0003t0013g0059 a0001c0004t0001g0193 a0001c0004t0014g0081 a0001c0004t0023g0080 a0001c0004t0023g0181 a0001c0004t0026g0335 a0001c0004t0026g0348 a0001c0004t0042g0079 a0001c0014t0020g0070 a0001c0014t0020g0071 a0002c0006t0001g0226 a0002c0006t0001g0227 a0002c0006t0001g0229 a0002c0006t0001g0230 a0002c0006t0001g0231 a0002c0006t0025g0074 a0002c0026t0025g0166 a0010c0025t0033g0063	22	378	0.0582	53	c.879 others(70): Show c.879-4215_879-4214insCGCATTCTCTCTGCACAGCCAGGGGTCA GAGCCGCTCTCACCAAGGCCCCGGC	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
AXIN1_chr16_282440_357723	318897	A A	AGCCGGGG others(46): Show AGCCGGGGCCTTGGTGAGAGCGGCTCTGACCCCTGGCTGTGCGGAGAGAA TGCG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01109.hp2 others(15): Show HG01069.hp1 HG01071.hp1 HG01109.hp2 HG02109.hp1 HG02257.hp2 HG02647.hp2 HG02717.hp2 HG02886.hp1 HG02976.hp1 HG03139.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2 NA19030.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0003 a0001c0007 a0001c0009 others(6): Show a0001c0003 a0001c0007 a0001c0009 a0001c0011 a0001c0016 a0001c0017 a0001c0027 a0004c0024 a0011c0015	a0001c0003t0013 a0001c0003t0021 a0001c0003t0036 others(8): Show a0001c0003t0013 a0001c0003t0021 a0001c0003t0036 a0001c0007t0008 a0001c0009t0014 a0001c0011t0019 a0001c0016t0008 a0001c0017t0048 a0001c0027t0014 a0004c0024t0039 a0011c0015t0008	a0001c0003t0013g0076 a0001c0003t0021g0068 a0001c0003t0021g0069 others(14): Show a0001c0003t0013g0076 a0001c0003t0021g0068 a0001c0003t0021g0069 a0001c0003t0036g0276 a0001c0007t0008g0039 a0001c0007t0008g0040 a0001c0007t0008g0042 a0001c0007t0008g0043 a0001c0007t0008g0277 a0001c0009t0014g0054 a0001c0009t0014g0055 a0001c0011t0019g0002 a0001c0016t0008g0041 a0001c0017t0048g0225 a0001c0027t0014g0093 a0004c0024t0039g0036 a0011c0015t0008g0281	18	378	0.0476	53	c.879 others(70): Show c.879-4215_879-4214insCGCATTCTCTCCGCACAGCCAGGGGTCA GAGCCGCTCTCACCAAGGCCCCGGC	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
B3GALT1_chr2_167288001_167879045	167563255	C C	CGGGGTGG others(46): Show CGGGGTGGCTGGCCGGACGGGGGGCCGACCCCCCCCCCCACCTCCCCCCC GGAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG06807.hp1 HG01106.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0007 a0001c0001t0016g0053 a0001c0001t0001g0007 a0001c0001t0016g0053	2	118	0.0170	53	c.-41 others(74): Show c.-410+72982_-410+72983insTGGCTGGCCGGACGGGGGGCCGAC CCCCCCCCCCACCTCCCCCCCGGATGGGG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GNTL1_chr17_82937149_83056770	82968416	C C	CGGTGCAC others(46): Show CGGTGCACAGATGTCTGTCAGCAACAGTGAAGGGAGGCAGTAACCAGTGT GCAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp1 HG00621.hp2 others(92): Show HG00423.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02080.hp2 HG02132.hp1 HG02148.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02683.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18945.hp1 NA18947.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18971.hp2 NA18980.hp2 NA18986.hp1 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19004.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0002c0010 a0002c0015 a0002c0027 a0003c0021 a0003c0024 a0003c0025 a0004c0017 a0004c0019 a0006c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0027 a0001c0001t0039 a0001c0002t0019 a0001c0003t0015 a0001c0003t0034 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0026 a0001c0004t0031 a0001c0006t0001 a0001c0006t0011 a0001c0006t0018 a0001c0006t0033 a0001c0007t0001 a0001c0007t0004 a0001c0007t0005 a0001c0007t0009 a0001c0008t0004 a0001c0008t0005 a0001c0008t0014 a0001c0008t0021 a0001c0008t0038 a0001c0011t0011 a0001c0011t0012 a0001c0011t0017 a0001c0012t0001 a0001c0012t0002 a0001c0013t0012 a0001c0014t0018 a0002c0010t0007 a0002c0015t0003 a0002c0027t0003 a0003c0021t0035 a0003c0024t0010 a0003c0025t0011 a0004c0017t0002 a0004c0019t0004 a0006c0018t0005	a0001c0001t0001g0051 a0001c0001t0001g0165 a0001c0001t0001g0166 others(89): Show a0001c0001t0001g0051 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0002g0133 a0001c0001t0002g0174 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0012g0148 a0001c0001t0015g0249 a0001c0001t0017g0177 a0001c0001t0019g0181 a0001c0001t0027g0184 a0001c0001t0039g0260 a0001c0002t0019g0115 a0001c0003t0015g0221 a0001c0003t0034g0197 a0001c0004t0001g0002 a0001c0004t0001g0021 a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0028 a0001c0004t0001g0032 a0001c0004t0001g0033 a0001c0004t0001g0036 a0001c0004t0001g0037 a0001c0004t0001g0039 a0001c0004t0001g0041 a0001c0004t0001g0042 a0001c0004t0001g0045 a0001c0004t0001g0048 a0001c0004t0002g0050 a0001c0004t0010g0034 a0001c0004t0026g0046 a0001c0004t0031g0035 a0001c0006t0001g0017 a0001c0006t0011g0018 a0001c0006t0011g0027 a0001c0006t0018g0015 a0001c0006t0033g0044 a0001c0007t0001g0003 a0001c0007t0001g0149 a0001c0007t0001g0150 a0001c0007t0004g0240 a0001c0007t0004g0241 a0001c0007t0005g0233 a0001c0007t0005g0234 a0001c0007t0005g0250 a0001c0007t0005g0251 a0001c0007t0005g0252 a0001c0007t0005g0254 a0001c0007t0009g0255 a0001c0008t0004g0214 a0001c0008t0005g0191 a0001c0008t0005g0192 a0001c0008t0005g0203 a0001c0008t0005g0208 a0001c0008t0005g0226 a0001c0008t0014g0195 a0001c0008t0014g0212 a0001c0008t0021g0213 a0001c0008t0038g0215 a0001c0011t0011g0138 a0001c0011t0011g0139 a0001c0011t0012g0142 a0001c0011t0017g0145 a0001c0012t0001g0068 a0001c0012t0001g0080 a0001c0012t0001g0097 a0001c0012t0001g0124 a0001c0012t0002g0079 a0001c0013t0012g0001 a0001c0013t0012g0013 a0001c0013t0012g0014 a0001c0014t0018g0049 a0002c0010t0007g0222 a0002c0015t0003g0023 a0002c0015t0003g0043 a0002c0027t0003g0113 a0003c0021t0035g0187 a0003c0024t0010g0151 a0003c0025t0011g0054 a0004c0017t0002g0136 a0004c0017t0002g0137 a0004c0019t0004g0193 a0006c0018t0005g0196	95	266	0.3571	53	c.460 others(70): Show c.460-2671_460-2670insATGCACACTGGTTACTGCCTCCCTTCAC TGTTGCTGACAGACATCTGTGCACC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar

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