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
AAK1_chr2_69452997_69648739	69493158	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG01884.hp2 others(13): Show HG00323.hp1 HG00558.hp2 HG01884.hp2 HG01952.hp2 HG01981.hp1 HG02040.hp2 HG02630.hp2 HG03041.hp2 HG03710.hp2 NA18950.hp2 NA18967.hp1 NA18970.hp1 NA18992.hp2 NA19077.hp1 NA19240.hp1 NA21309.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0004 a0001c0006 others(4): Show a0001c0001 a0001c0004 a0001c0006 a0001c0008 a0002c0002 a0005c0010 a0006c0015	a0001c0001t0083 a0001c0001t0144 a0001c0004t0010 others(11): Show a0001c0001t0083 a0001c0001t0144 a0001c0004t0010 a0001c0004t0017 a0001c0004t0067 a0001c0004t0071 a0001c0006t0042 a0001c0008t0135 a0002c0002t0013 a0002c0002t0085 a0002c0002t0155 a0005c0010t0010 a0006c0015t0001 a0006c0015t0013	a0001c0001t0083g0016 a0001c0001t0144g0232 a0001c0004t0010g0148 others(13): Show a0001c0001t0083g0016 a0001c0001t0144g0232 a0001c0004t0010g0148 a0001c0004t0010g0156 a0001c0004t0017g0073 a0001c0004t0067g0077 a0001c0004t0071g0074 a0001c0006t0042g0007 a0001c0008t0135g0262 a0002c0002t0013g0110 a0002c0002t0085g0109 a0002c0002t0155g0298 a0005c0010t0010g0123 a0005c0010t0010g0142 a0006c0015t0001g0024 a0006c0015t0013g0111	16	298	0.0537	21	c.236 others(40): Show c.2365+2826_2365+2827insTTTTTTTTTTTTTTTTTTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AARS1_chr16_70247298_70294506	70272924	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0009 a0007c0015t0001g0009	1	362	0.0028	21	c.480 others(36): Show c.480-953_480-952insGTGTGTGTGTGTGTGTGTGTG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	4/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70289738	A A	ACCCCCCC others(14): Show ACCCCCCCCCCCGCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	362	0.0028	21	c.-34 others(30): Show c.-340_-339insCGGGGGGGGCGGGGGGGGGGG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		233		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289738	A A	ACCCCCCC others(14): Show ACCCCCCCCCCGCCCCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	362	0.0028	21	c.-34 others(30): Show c.-340_-339insGCGGGGGGGGCGGGGGGGGGG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		233		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289738	A A	ACCCCCCC others(14): Show ACCCCCCCCCGCCCCCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	362	0.0028	21	c.-34 others(30): Show c.-340_-339insGCGGGGGGGGGCGGGGGGGGG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		233		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289747	C C	CCGCCCCC others(14): Show CCGCCCCCCCCGCCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	362	0.0028	21	c.-34 others(30): Show c.-349_-348insCGGGGGGGGGCGGGGGGGGCG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		242		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289748	G G	GCCCCCCC others(14): Show GCCCCCCCCGCCCCCCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG02071.hp1 HG02148.hp2 others(3): Show HG01169.hp1 HG02071.hp1 HG02148.hp2 HG02809.hp1 HG03490.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0001g0067 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0007t0001g0092	6	362	0.0166	21	c.-35 others(30): Show c.-350_-349insGCGGGGGGGGGGCGGGGGGGG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		243		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289749	C C	CGCCCCCC others(14): Show CGCCCCCCCCGCCCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	362	0.0028	21	c.-35 others(30): Show c.-351_-350insCGGGGGGGGGGCGGGGGGGGC	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		244		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289757	G G	GCCCCCCC others(14): Show GCCCCCCCCCCGCCCCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00738.hp2 others(3): Show HG00423.hp2 HG00558.hp2 HG00738.hp2 HG01361.hp1 HG01975.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0076 others(3): Show a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0002t0001g0239	6	362	0.0166	21	c.-35 others(30): Show c.-359_-358insGCGGGGGGGGCGGGGGGGGGG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		252		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289757	G G	GCCCCCCC others(14): Show GCCCCCCCCCGCCCCCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA19055.hp1 NA19060.hp1 NA18992.hp1 NA19055.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0129 a0001c0001t0001g0142 a0001c0001t0001g0105 a0001c0001t0001g0129 a0001c0001t0001g0142	3	362	0.0083	21	c.-35 others(30): Show c.-359_-358insGCGGGGGGGGGCGGGGGGGGG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		252		chr16	TogoVar
AASS_chr7_122068549_122149249	122140485	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02922.hp1 NA18988.hp2 others(1): Show HG02738.hp1 HG02922.hp1 NA18988.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0306 a0001c0001t0003g0269 a0001c0001t0003g0304 others(1): Show a0001c0001t0001g0306 a0001c0001t0003g0269 a0001c0001t0003g0304 a0001c0001t0003g0305	4	384	0.0104	21	c.-16 others(38): Show c.-16+3655_-16+3675dupTTTTTTTTTTTTTTTTTTTTT	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	1/23			chr7	TogoVar
AATK_chr17_81112295_81171221	81119217	C C	CTGGGGCC others(14): Show CTGGGGCCGGGAAGGAGCGGGG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0311 a0003c0007t0001g0311	1	368	0.0027	21	c.408 others(38): Show c.4084+162_4084+163insCCCCGCTCCTTCCCGGCCCCA	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	13/13			chr17	TogoVar
ABAT_chr16_8669617_8789570	8710727	A A	AGAGAGAG others(14): Show AGAGAGAGAGAGGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18612.hp1 NA19076.hp2 HG01952.hp2 NA18612.hp1 NA19076.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0004 a0001c0001t0025 a0002c0005t0001 a0001c0001t0004 a0001c0001t0025 a0002c0005t0001	a0001c0001t0004g0080 a0001c0001t0025g0264 a0002c0005t0001g0215 a0001c0001t0004g0080 a0001c0001t0025g0264 a0002c0005t0001g0215	3	362	0.0083	21	c.-41 others(40): Show c.-41-24969_-41-24968insAGAGAGAGGAGAGGGAGGGAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69210081	T T	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18945.hp2 NA18965.hp1 others(1): Show HG04115.hp1 NA18945.hp2 NA18965.hp1 NA19068.hp1	a0004 a0004	a0004c0004 a0004c0006 a0004c0004 a0004c0006	a0004c0004t0003 a0004c0006t0003 a0004c0004t0003 a0004c0006t0003	a0004c0004t0003g0141 a0004c0006t0003g0104 a0004c0006t0003g0121 others(1): Show a0004c0004t0003g0141 a0004c0006t0003g0104 a0004c0006t0003g0121 a0004c0006t0003g0122	4	348	0.0115	21	c.100 others(40): Show c.1006+4602_1006+4622dupTAATAATAATAATAATAATAA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210170	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0004 a0006c0016t0004	a0006c0016t0004g0186 a0006c0016t0004g0186	1	348	0.0029	21	c.100 others(40): Show c.1006+4513_1006+4533dupAAAAAAAAAAAAAAAAAAAAA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210865	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01106.hp2 others(2): Show HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0007 a0007c0008t0007	a0007c0008t0007g0006 a0007c0008t0007g0336 a0007c0008t0007g0337 others(1): Show a0007c0008t0007g0006 a0007c0008t0007g0336 a0007c0008t0007g0337 a0007c0008t0007g0338	5	348	0.0144	21	c.100 others(40): Show c.1006+3838_1006+3839insTATATATATATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	215125114	A A	AGTATTTG others(14): Show AGTATTTGGGCTTATTTCTGGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02630.hp1 others(16): Show HG01884.hp2 HG02257.hp2 HG02630.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG03130.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA19240.hp1 NA20300.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0010 a0001c0012 a0001c0015 others(9): Show a0001c0010 a0001c0012 a0001c0015 a0001c0025 a0001c0068 a0002c0007 a0002c0008 a0002c0013 a0002c0017 a0002c0054 a0004c0061 a0005c0062	a0001c0010t0009 a0001c0012t0014 a0001c0015t0007 others(11): Show a0001c0010t0009 a0001c0012t0014 a0001c0015t0007 a0001c0015t0009 a0001c0025t0015 a0001c0068t0003 a0002c0007t0017 a0002c0008t0007 a0002c0013t0018 a0002c0017t0009 a0002c0017t0016 a0002c0054t0009 a0004c0061t0015 a0005c0062t0004	a0001c0010t0009g0001 a0001c0012t0014g0015 a0001c0015t0007g0009 others(16): Show a0001c0010t0009g0001 a0001c0012t0014g0015 a0001c0015t0007g0009 a0001c0015t0007g0013 a0001c0015t0009g0006 a0001c0025t0015g0182 a0001c0068t0003g0016 a0002c0007t0017g0012 a0002c0008t0007g0005 a0002c0008t0007g0008 a0002c0008t0007g0010 a0002c0008t0007g0011 a0002c0013t0018g0002 a0002c0017t0009g0007 a0002c0017t0016g0179 a0002c0017t0016g0180 a0002c0054t0009g0004 a0004c0061t0015g0181 a0005c0062t0004g0078	19	198	0.0960	21	c.69+ others(38): Show c.69+13005_69+13025dupCCCAGAAATAAGCCCAAATAC	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA13_chr7_48166458_48652497	48232139	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02523.hp2 NA18971.hp1 others(3): Show HG01516.hp2 HG02523.hp2 NA18971.hp1 NA18994.hp1 NA19011.hp1 NA19062.hp2	a0001 a0008 a0010 others(1): Show a0001 a0008 a0010 a0020	a0001c0001 a0008c0013 a0008c0032 others(2): Show a0001c0001 a0008c0013 a0008c0032 a0010c0031 a0020c0034	a0001c0001t0001 a0008c0013t0001 a0008c0032t0001 others(2): Show a0001c0001t0001 a0008c0013t0001 a0008c0032t0001 a0010c0031t0003 a0020c0034t0003	a0001c0001t0001g0027 a0008c0013t0001g0111 a0008c0032t0001g0079 others(3): Show a0001c0001t0001g0027 a0008c0013t0001g0111 a0008c0032t0001g0079 a0010c0031t0003g0115 a0010c0031t0003g0118 a0020c0034t0003g0117	6	178	0.0337	21	c.764 others(38): Show c.764-1874_764-1854dupTTTTTTTTTTTTTTTTTTTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	7/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48341858	T T	TATATATA others(14): Show TATATATATATATATCTTTCTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp2 HG00741.hp2 others(71): Show HG00544.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01433.hp1 HG01516.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02071.hp2 HG02083.hp2 HG02132.hp1 HG02258.hp2 HG02280.hp2 HG02523.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03834.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18956.hp1 NA18959.hp1 NA18971.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp2 NA18994.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19074.hp1 NA19083.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(41): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0016 a0017 a0018 a0022 a0025 a0026 a0027 a0029 a0031 a0036 a0038 a0039 a0040 a0041 a0044 a0045 a0046 a0047 a0048 a0050 a0051 a0057 a0058 a0065 a0072 a0074 a0075 a0076 a0077 a0078 a0082 a0083 a0088	a0001c0001 a0001c0010 a0001c0103 others(51): Show a0001c0001 a0001c0010 a0001c0103 a0002c0002 a0002c0065 a0003c0004 a0004c0009 a0004c0079 a0006c0023 a0006c0063 a0007c0011 a0008c0013 a0008c0032 a0010c0031 a0010c0033 a0011c0044 a0011c0046 a0012c0043 a0013c0006 a0016c0094 a0016c0095 a0017c0096 a0017c0097 a0018c0029 a0022c0020 a0025c0089 a0026c0026 a0027c0021 a0029c0014 a0031c0092 a0036c0098 a0038c0108 a0039c0110 a0040c0111 a0041c0112 a0044c0058 a0045c0056 a0046c0057 a0047c0040 a0048c0041 a0050c0054 a0051c0053 a0057c0036 a0058c0035 a0065c0091 a0072c0069 a0074c0080 a0075c0081 a0076c0083 a0077c0082 a0078c0084 a0082c0088 a0083c0077 a0088c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0010t0001 a0001c0103t0006 a0002c0002t0001 a0002c0002t0002 a0002c0065t0006 a0003c0004t0002 a0004c0009t0002 a0004c0079t0006 a0006c0023t0003 a0006c0063t0001 a0007c0011t0003 a0008c0013t0005 a0008c0032t0001 a0010c0031t0003 a0010c0033t0003 a0011c0044t0001 a0011c0046t0002 a0012c0043t0002 a0013c0006t0001 a0016c0094t0002 a0016c0095t0002 a0017c0096t0001 a0017c0097t0001 a0018c0029t0001 a0018c0029t0004 a0022c0020t0001 a0022c0020t0005 a0025c0089t0012 a0026c0026t0001 a0027c0021t0008 a0029c0014t0010 a0031c0092t0004 a0036c0098t0001 a0038c0108t0001 a0039c0110t0007 a0040c0111t0006 a0041c0112t0011 a0044c0058t0001 a0045c0056t0002 a0046c0057t0001 a0047c0040t0001 a0048c0041t0004 a0050c0054t0002 a0051c0053t0004 a0057c0036t0007 a0058c0035t0002 a0065c0091t0001 a0072c0069t0001 a0074c0080t0013 a0075c0081t0001 a0076c0083t0003 a0077c0082t0005 a0078c0084t0002 a0082c0088t0005 a0083c0077t0003 a0088c0037t0005	a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0040 others(71): Show a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0133 a0001c0001t0002g0054 a0001c0001t0002g0065 a0001c0001t0006g0178 a0001c0010t0001g0050 a0001c0010t0001g0066 a0001c0103t0006g0059 a0002c0002t0001g0131 a0002c0002t0002g0156 a0002c0002t0002g0168 a0002c0065t0006g0128 a0003c0004t0002g0032 a0004c0009t0002g0166 a0004c0079t0006g0147 a0006c0023t0003g0171 a0006c0063t0001g0010 a0007c0011t0003g0051 a0007c0011t0003g0130 a0008c0013t0005g0045 a0008c0032t0001g0079 a0010c0031t0003g0118 a0010c0033t0003g0060 a0010c0033t0003g0071 a0011c0044t0001g0096 a0011c0046t0002g0089 a0012c0043t0002g0098 a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 a0016c0094t0002g0078 a0016c0095t0002g0043 a0017c0096t0001g0049 a0017c0097t0001g0084 a0018c0029t0001g0134 a0018c0029t0004g0070 a0022c0020t0001g0007 a0022c0020t0005g0123 a0025c0089t0012g0154 a0026c0026t0001g0080 a0027c0021t0008g0056 a0027c0021t0008g0077 a0029c0014t0010g0174 a0031c0092t0004g0095 a0036c0098t0001g0069 a0038c0108t0001g0113 a0039c0110t0007g0126 a0040c0111t0006g0031 a0041c0112t0011g0114 a0044c0058t0001g0101 a0045c0056t0002g0019 a0046c0057t0001g0001 a0047c0040t0001g0009 a0048c0041t0004g0039 a0050c0054t0002g0015 a0051c0053t0004g0122 a0057c0036t0007g0083 a0058c0035t0002g0157 a0065c0091t0001g0109 a0072c0069t0001g0144 a0074c0080t0013g0158 a0075c0081t0001g0148 a0076c0083t0003g0145 a0077c0082t0005g0146 a0078c0084t0002g0076 a0082c0088t0005g0152 a0083c0077t0003g0046 a0088c0037t0005g0092	74	178	0.4157	21	c.102 others(42): Show c.10204+3418_10204+3438dupCTTTCTGATATATATATATAT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	29/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48341881	T T	TATATATA others(14): Show TATATATATATATATCTTTCTG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp2 NA18961.hp1 NA18961.hp2	a0002 a0037 a0002 a0037	a0002c0002 a0037c0100 a0002c0002 a0037c0100	a0002c0002t0004 a0037c0100t0001 a0002c0002t0004 a0037c0100t0001	a0002c0002t0004g0140 a0037c0100t0001g0041 a0002c0002t0004g0140 a0037c0100t0001g0041	2	178	0.0112	21	c.102 others(42): Show c.10204+3438_10204+3458dupTATCTTTCTGATATATATATA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	29/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48355020	A A	AGTAAATC others(14): Show AGTAAATCAGTAAAGAAAATAG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02083.hp1 HG02109.hp2 others(4): Show HG01516.hp1 HG02083.hp1 HG02109.hp2 HG03098.hp1 HG03492.hp2 HG03834.hp1 NA18971.hp1	a0003 a0004 a0008 others(4): Show a0003 a0004 a0008 a0012 a0045 a0085 a0087	a0003c0004 a0004c0008 a0008c0013 others(4): Show a0003c0004 a0004c0008 a0008c0013 a0012c0045 a0045c0056 a0085c0060 a0087c0039	a0003c0004t0001 a0004c0008t0005 a0008c0013t0001 others(4): Show a0003c0004t0001 a0004c0008t0005 a0008c0013t0001 a0012c0045t0002 a0045c0056t0002 a0085c0060t0001 a0087c0039t0001	a0003c0004t0001g0033 a0004c0008t0005g0169 a0008c0013t0001g0111 others(4): Show a0003c0004t0001g0033 a0004c0008t0005g0169 a0008c0013t0001g0111 a0012c0045t0002g0075 a0045c0056t0002g0019 a0085c0060t0001g0100 a0087c0039t0001g0003	7	178	0.0393	21	c.106 others(42): Show c.10688+2536_10688+2556dupAAATCAGTAAAGAAAATAGGT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	31/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48401744	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0080 a0080	a0080c0090 a0080c0090	a0080c0090t0005 a0080c0090t0005	a0080c0090t0005g0104 a0080c0090t0005g0104	1	178	0.0056	21	c.118 others(42): Show c.11874-1939_11874-1938insCACACACACACACACACACAC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	38/61			chr7	TogoVar
ABCA13_chr7_48166458_48652497	48637381	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0025 a0025	a0025c0085 a0025c0085	a0025c0085t0004 a0025c0085t0004	a0025c0085t0004g0008 a0025c0085t0004g0008	1	178	0.0056	21	c.148 others(42): Show c.14838-5902_14838-5882dupAAAAAAAAAAAAAAAAAAAAA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	59/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104862689	C C	CCCACCCC others(14): Show CCCACCCCCACCCCCACCCCCA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0088 a0001c0001t0003g0089 a0001c0001t0001g0088 a0001c0001t0003g0089	2	318	0.0063	21	c.422 others(36): Show c.422-890_422-889insTGGGGGTGGGGGTGGGGGTGG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104882028	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02027.hp2 HG02615.hp2 others(6): Show HG01515.hp2 HG02027.hp2 HG02615.hp2 NA18960.hp1 NA18960.hp2 NA18970.hp2 NA19002.hp1 NA19010.hp1 NA19082.hp1	a0001 a0003 a0006 others(4): Show a0001 a0003 a0006 a0007 a0008 a0014 a0017	a0001c0001 a0001c0005 a0003c0002 others(5): Show a0001c0001 a0001c0005 a0003c0002 a0006c0004 a0007c0003 a0008c0006 a0014c0023 a0017c0034	a0001c0001t0002 a0001c0005t0002 a0003c0002t0002 others(6): Show a0001c0001t0002 a0001c0005t0002 a0003c0002t0002 a0006c0004t0003 a0007c0003t0014 a0007c0003t0016 a0008c0006t0005 a0014c0023t0036 a0017c0034t0001	a0001c0001t0002g0137 a0001c0005t0002g0062 a0003c0002t0002g0122 others(6): Show a0001c0001t0002g0137 a0001c0005t0002g0062 a0003c0002t0002g0122 a0006c0004t0003g0190 a0007c0003t0014g0030 a0007c0003t0016g0029 a0008c0006t0005g0063 a0014c0023t0036g0104 a0017c0034t0001g0153	9	318	0.0283	21	c.421 others(37): Show c.421+990_421+1010dupTTTTTTTTTTTTTTTTTTTTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104896711	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp2 HG02622.hp1 HG02717.hp2	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0004 a0015c0020t0001 a0015c0020t0004	a0015c0020t0001g0006 a0015c0020t0004g0005 a0015c0020t0001g0006 a0015c0020t0004g0005	2	318	0.0063	21	c.66+ others(36): Show c.66+6882_66+6902dupAAAAAAAAAAAAAAAAAAAAA	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	2/49			chr9	TogoVar
ABCA5_chr17_69239311_69332133	69263697	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01257.hp2 HG01243.hp2 HG01257.hp2	a0001 a0001	a0001c0004 a0001c0022 a0001c0004 a0001c0022	a0001c0004t0005 a0001c0022t0003 a0001c0004t0005 a0001c0022t0003	a0001c0004t0005g0324 a0001c0022t0003g0315 a0001c0004t0005g0324 a0001c0022t0003g0315	2	350	0.0057	21	c.331 others(40): Show c.3315+1037_3315+1038insAAAAAAAAAAAAAAAAAAAAA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	24/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69274839	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0010 a0001c0010t0010	a0001c0010t0010g0333 a0001c0010t0010g0333	1	350	0.0029	21	c.259 others(38): Show c.2595-732_2595-712dupAAAAAAAAAAAAAAAAAAAAA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	19/38			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68958519	T T	TAATATAA others(14): Show TAATATAATTATATATAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0142 a0001c0005t0001g0142	1	274	0.0037	21	c.-34 others(32): Show c.-3468_-3467insTATATTATATATAATTATATT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3128		chr17	TogoVar
ABCB1_chr7_87498017_87605884	87516731	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02145.hp1 HG00423.hp2 HG02145.hp1	a0003 a0010 a0003 a0010	a0003c0004 a0010c0013 a0003c0004 a0010c0013	a0003c0004t0005 a0010c0013t0001 a0003c0004t0005 a0010c0013t0001	a0003c0004t0005g0019 a0010c0013t0001g0262 a0003c0004t0005g0019 a0010c0013t0001g0262	2	352	0.0057	21	c.292 others(36): Show c.2928-87_2928-67dupAAAAAAAAAAAAAAAAAAAAA	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	23/27			chr7	TogoVar
ABCB1_chr7_87498017_87605884	87568240	G G	GACAATAA others(14): Show GACAATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0172 a0002c0002t0001g0172	1	352	0.0028	21	c.339 others(38): Show c.339-1285_339-1265dupTATTATTATTATTATTATTGT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	5/27			chr7	TogoVar
ABCB7_chrX_75046048_75161283	75104047	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03654.hp1 HG04204.hp1 HG02698.hp1 HG03654.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0004g0082 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0004g0082	3	232	0.0129	21	c.334 others(38): Show c.334-5007_334-4987dupAAAAAAAAAAAAAAAAAAAAA	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	3/15			chrX	TogoVar
ABCC11_chr16_48160773_48252539	48226072	C C	CATTATTA others(14): Show CATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp2 HG01891.hp1 others(3): Show HG01106.hp1 HG01243.hp2 HG01891.hp1 HG02145.hp1 HG02965.hp2 HG03239.hp2	a0004 a0009 a0010 others(1): Show a0004 a0009 a0010 a0018	a0004c0017 a0009c0010 a0010c0012 others(1): Show a0004c0017 a0009c0010 a0010c0012 a0018c0025	a0004c0017t0001 a0009c0010t0008 a0010c0012t0007 others(1): Show a0004c0017t0001 a0009c0010t0008 a0010c0012t0007 a0018c0025t0001	a0004c0017t0001g0029 a0004c0017t0001g0031 a0009c0010t0008g0024 others(3): Show a0004c0017t0001g0029 a0004c0017t0001g0031 a0009c0010t0008g0024 a0010c0012t0007g0021 a0010c0012t0007g0023 a0018c0025t0001g0030	6	158	0.0380	21	c.396 others(38): Show c.396-1664_396-1644dupAATAATAATAATAATAATAAT	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	4/29			chr16	TogoVar
ABCC1_chr16_15944616_16148053	15949611	G G	GCGCCGCC others(14): Show GCGCCGCCGCCGCCGCCGCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG02080.hp1 HG02258.hp2 others(20): Show HG00408.hp2 HG02080.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02572.hp2 HG02630.hp1 HG02809.hp1 HG02922.hp1 HG02970.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 NA18612.hp1 NA18612.hp2 NA19002.hp1 NA19011.hp2 NA19030.hp1 NA19057.hp1 NA19240.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0012 a0001c0014 a0004c0026 a0009c0021	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(16): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0003t0001 a0001c0004t0002 a0001c0005t0022 a0001c0008t0009 a0001c0012t0002 a0001c0014t0003 a0004c0026t0006 a0009c0021t0006	a0001c0001t0001g0069 a0001c0001t0001g0179 a0001c0001t0001g0248 others(20): Show a0001c0001t0001g0069 a0001c0001t0001g0179 a0001c0001t0001g0248 a0001c0001t0004g0166 a0001c0001t0006g0167 a0001c0001t0006g0220 a0001c0001t0008g0246 a0001c0001t0018g0176 a0001c0002t0001g0163 a0001c0002t0002g0150 a0001c0002t0002g0193 a0001c0002t0003g0195 a0001c0002t0004g0204 a0001c0002t0006g0187 a0001c0002t0008g0140 a0001c0003t0001g0144 a0001c0004t0002g0200 a0001c0005t0022g0243 a0001c0008t0009g0185 a0001c0012t0002g0155 a0001c0014t0003g0149 a0004c0026t0006g0231 a0009c0021t0006g0151	23	249	0.0924	21	c.-14 others(30): Show c.-141_-140insCGCCGCCGCCGCCGCCGCCGC	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		4		chr16	TogoVar
ABCC1_chr16_15944616_16148053	16143529	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0009 a0001c0022t0009	a0001c0022t0009g0006 a0001c0022t0009g0006	1	249	0.0040	21	c.22 others(32): Show c.2248_*2249insTTTTTTTTTTTTTTTTTTTTT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		477		chr16	TogoVar
ABCC1_chr16_15944616_16148053	16143530	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 NA19030.hp2 NA20752.hp2 HG02523.hp2 NA19030.hp2 NA20752.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0002 a0001c0006t0002 a0001c0004t0002 a0001c0006t0002	a0001c0004t0002g0005 a0001c0004t0002g0226 a0001c0006t0002g0244 a0001c0004t0002g0005 a0001c0004t0002g0226 a0001c0006t0002g0244	3	249	0.0121	21	c.22 others(32): Show c.2249_*2250insTTTTTTTTTTTTTTTTTTTTT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		478		chr16	TogoVar
ABCC2_chr10_99777640_99857594	99778455	G G	GAGAGAGA others(14): Show GAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0075 a0005c0008t0001g0075	1	336	0.0030	21	c.-43 others(32): Show c.-4390_-4389insAGAGAGAGAGAGAGAGAGAGA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4184		chr10	TogoVar
ABCC3_chr17_50629881_50697253	50673986	C C	CTTCTTTC others(14): Show CTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	342	0.0029	21	c.259 others(38): Show c.2599+329_2599+330insTCTTTCTTTCTTTCTTTCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50674010	C C	CTTCTTTC others(14): Show CTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	342	0.0029	21	c.259 others(38): Show c.2599+353_2599+354insTCTTTCTTTCTTTCTTTCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC4_chr13_95014835_95306451	95243157	G G	GCACTGTG others(14): Show GCACTGTGTGGGTCCATCTTAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02280.hp2 HG02615.hp1 others(6): Show HG02155.hp2 HG02280.hp2 HG02615.hp1 HG02970.hp2 HG03491.hp1 NA18522.hp1 NA18977.hp2 NA18979.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0011 a0017	a0001c0002 a0001c0009 a0001c0011 others(6): Show a0001c0002 a0001c0009 a0001c0011 a0001c0012 a0002c0004 a0002c0015 a0003c0016 a0011c0056 a0017c0035	a0001c0002t0001 a0001c0009t0005 a0001c0011t0008 others(6): Show a0001c0002t0001 a0001c0009t0005 a0001c0011t0008 a0001c0012t0001 a0002c0004t0001 a0002c0015t0007 a0003c0016t0008 a0011c0056t0009 a0017c0035t0003	a0001c0002t0001g0238 a0001c0009t0005g0132 a0001c0011t0008g0244 others(6): Show a0001c0002t0001g0238 a0001c0009t0005g0132 a0001c0011t0008g0244 a0001c0012t0001g0081 a0002c0004t0001g0153 a0002c0015t0007g0091 a0003c0016t0008g0245 a0011c0056t0009g0090 a0017c0035t0003g0148	9	248	0.0363	21	c.306 others(38): Show c.306+3797_306+3817dupTTAAGATGGACCCACACAGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244641	G G	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0164 a0001c0036t0001g0164	1	248	0.0040	21	c.306 others(38): Show c.306+2313_306+2333dupTCTTTCTTTCTTTCTTTCTTT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC6_chr16_16144565_16228494	16171963	G G	GGTGGGTG others(14): Show GGTGGGTGGGATGGATAAATGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03195.hp2 HG03486.hp1 others(2): Show HG00544.hp2 HG03195.hp2 HG03486.hp1 NA19240.hp1 NA20300.hp2	a0001 a0004 a0026 a0001 a0004 a0026	a0001c0002 a0001c0055 a0004c0017 others(1): Show a0001c0002 a0001c0055 a0004c0017 a0026c0056	a0001c0002t0001 a0001c0055t0012 a0004c0017t0001 others(1): Show a0001c0002t0001 a0001c0055t0012 a0004c0017t0001 a0026c0056t0001	a0001c0002t0001g0014 a0001c0002t0001g0024 a0001c0055t0012g0163 others(2): Show a0001c0002t0001g0014 a0001c0002t0001g0024 a0001c0055t0012g0163 a0004c0017t0001g0076 a0026c0056t0001g0041	5	357	0.0140	21	c.278 others(40): Show c.2787+1320_2787+1321insTCATTTATCCATCCCACCCAC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172378	C C	CTAAATGA others(14): Show CTAAATGAGTGGGTGGGATGGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0048 a0005c0048	a0005c0048t0001 a0005c0048t0001	a0005c0048t0001g0063 a0005c0048t0001g0063	1	357	0.0028	21	c.278 others(38): Show c.2787+905_2787+906insTCCATCCCACCCACTCATTTA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172399	C C	CTAAATGA others(14): Show CTAAATGAGTGGGTGGGATGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(110): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03688.hp1 HG03831.hp2 HG03927.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18943.hp2 NA18947.hp1 NA18949.hp1 NA18953.hp1 NA18959.hp1 NA18962.hp1 NA18968.hp2 NA18971.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19056.hp2 NA19060.hp1 NA19066.hp1 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0006 a0010 a0012 a0013 a0017 a0019 a0021 a0023 a0026 a0029 a0030 a0034 a0044	a0001c0001 a0001c0002 a0001c0004 others(31): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0003 a0002c0013 a0002c0014 a0002c0022 a0002c0024 a0002c0051 a0002c0057 a0002c0074 a0003c0005 a0003c0007 a0003c0021 a0003c0071 a0004c0010 a0006c0009 a0010c0029 a0010c0042 a0010c0045 a0012c0025 a0012c0030 a0013c0020 a0013c0050 a0017c0034 a0019c0027 a0021c0079 a0023c0076 a0026c0056 a0029c0058 a0030c0046 a0034c0063 a0044c0038	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(33): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 a0002c0003t0001 a0002c0013t0001 a0002c0014t0001 a0002c0022t0001 a0002c0024t0001 a0002c0051t0001 a0002c0057t0001 a0002c0074t0001 a0003c0005t0001 a0003c0005t0005 a0003c0005t0008 a0003c0007t0001 a0003c0021t0001 a0003c0071t0001 a0004c0010t0001 a0006c0009t0001 a0010c0029t0001 a0010c0042t0001 a0010c0045t0001 a0012c0025t0001 a0012c0030t0001 a0013c0020t0001 a0013c0050t0001 a0017c0034t0001 a0019c0027t0007 a0021c0079t0001 a0023c0076t0001 a0026c0056t0001 a0029c0058t0001 a0030c0046t0001 a0034c0063t0001 a0044c0038t0001	a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 others(109): Show a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0226 a0001c0001t0001g0273 a0001c0002t0001g0024 a0001c0002t0001g0068 a0001c0002t0001g0332 a0001c0004t0001g0208 a0001c0006t0001g0329 a0002c0003t0001g0002 a0002c0003t0001g0013 a0002c0003t0001g0074 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0084 a0002c0003t0001g0141 a0002c0003t0001g0150 a0002c0003t0001g0151 a0002c0003t0001g0167 a0002c0003t0001g0168 a0002c0003t0001g0175 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0232 a0002c0003t0001g0257 a0002c0003t0001g0261 a0002c0003t0001g0267 a0002c0003t0001g0306 a0002c0003t0001g0316 a0002c0003t0001g0320 a0002c0003t0001g0333 a0002c0003t0001g0350 a0002c0013t0001g0241 a0002c0013t0001g0243 a0002c0013t0001g0244 a0002c0013t0001g0253 a0002c0013t0001g0266 a0002c0014t0001g0284 a0002c0014t0001g0288 a0002c0014t0001g0289 a0002c0014t0001g0328 a0002c0014t0001g0331 a0002c0022t0001g0095 a0002c0022t0001g0345 a0002c0024t0001g0154 a0002c0051t0001g0353 a0002c0057t0001g0255 a0002c0074t0001g0185 a0003c0005t0001g0028 a0003c0005t0001g0029 a0003c0005t0001g0083 a0003c0005t0001g0134 a0003c0005t0001g0157 a0003c0005t0001g0176 a0003c0005t0001g0177 a0003c0005t0001g0228 a0003c0005t0001g0260 a0003c0005t0001g0282 a0003c0005t0001g0307 a0003c0005t0001g0309 a0003c0005t0001g0314 a0003c0005t0001g0318 a0003c0005t0001g0319 a0003c0005t0001g0321 a0003c0005t0005g0213 a0003c0005t0008g0317 a0003c0007t0001g0036 a0003c0007t0001g0098 a0003c0007t0001g0102 a0003c0007t0001g0103 a0003c0007t0001g0105 a0003c0007t0001g0110 a0003c0007t0001g0111 a0003c0007t0001g0211 a0003c0007t0001g0221 a0003c0007t0001g0245 a0003c0021t0001g0011 a0003c0021t0001g0012 a0003c0071t0001g0035 a0004c0010t0001g0045 a0006c0009t0001g0044 a0006c0009t0001g0048 a0006c0009t0001g0050 a0006c0009t0001g0118 a0006c0009t0001g0119 a0006c0009t0001g0120 a0010c0029t0001g0158 a0010c0029t0001g0230 a0010c0042t0001g0099 a0010c0045t0001g0107 a0012c0025t0001g0007 a0012c0025t0001g0008 a0012c0030t0001g0113 a0012c0030t0001g0274 a0013c0020t0001g0055 a0013c0020t0001g0056 a0013c0020t0001g0057 a0013c0050t0001g0040 a0017c0034t0001g0001 a0019c0027t0007g0293 a0019c0027t0007g0294 a0021c0079t0001g0238 a0023c0076t0001g0047 a0026c0056t0001g0041 a0029c0058t0001g0164 a0030c0046t0001g0304 a0034c0063t0001g0170 a0044c0038t0001g0033	113	357	0.3165	21	c.278 others(38): Show c.2787+884_2787+885insTCCATCCCACCCACTCATTTA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172420	C C	CTAAATGA others(14): Show CTAAATGAGTGGGTGGGATGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(43): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00733.hp2 HG00735.hp1 HG01074.hp1 HG01123.hp1 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02738.hp1 HG02809.hp2 HG02922.hp1 HG02970.hp2 HG03139.hp2 HG03491.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 NA18612.hp2 NA18949.hp2 NA18952.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18987.hp1 NA18998.hp2 NA19002.hp1 NA19030.hp2 NA19056.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0004 a0008 others(4): Show a0001 a0004 a0008 a0011 a0018 a0027 a0041	a0001c0001 a0001c0004 a0001c0006 others(7): Show a0001c0001 a0001c0004 a0001c0006 a0001c0033 a0004c0010 a0008c0011 a0011c0016 a0018c0035 a0027c0073 a0041c0080	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0006t0002 a0001c0006t0009 a0001c0033t0002 a0004c0010t0001 a0008c0011t0003 a0011c0016t0001 a0011c0016t0006 a0011c0016t0011 a0018c0035t0001 a0027c0073t0001 a0041c0080t0001	a0001c0001t0001g0003 a0001c0001t0001g0082 a0001c0001t0001g0191 others(43): Show a0001c0001t0001g0003 a0001c0001t0001g0082 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0313 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0340 a0001c0001t0002g0030 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0322 a0001c0004t0001g0220 a0001c0004t0002g0133 a0001c0006t0001g0189 a0001c0006t0001g0276 a0001c0006t0001g0278 a0001c0006t0001g0292 a0001c0006t0001g0296 a0001c0006t0001g0297 a0001c0006t0001g0298 a0001c0006t0001g0330 a0001c0006t0002g0246 a0001c0006t0009g0285 a0001c0033t0002g0195 a0004c0010t0001g0042 a0004c0010t0001g0043 a0004c0010t0001g0046 a0008c0011t0003g0058 a0008c0011t0003g0059 a0008c0011t0003g0060 a0008c0011t0003g0091 a0011c0016t0001g0275 a0011c0016t0006g0280 a0011c0016t0011g0301 a0018c0035t0001g0078 a0027c0073t0001g0016 a0041c0080t0001g0090	46	357	0.1289	21	c.278 others(38): Show c.2787+843_2787+863dupTCCATCCCACCCACTCATTTA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16227173	T T	TGATATTA others(14): Show TGATATTATTTGTAATATTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0106 a0001c0004t0002g0106	1	357	0.0028	21	c.-37 others(32): Show c.-3740_-3739insTAAAATATTACAAATAATATC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding		3680		chr16	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA18960.hp2 HG01255.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0111 a0001c0001t0001g0112	2	212	0.0094	21	c.816 others(36): Show c.816+153_816+154insAAAAAAAAAAATATATATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG00621.hp2 others(4): Show HG00558.hp2 HG00621.hp1 HG00621.hp2 HG02300.hp1 HG03491.hp1 HG03669.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0001t0001 a0001c0001t0003 a0001c0001t0018	a0001c0001t0001g0029 a0001c0001t0001g0106 a0001c0001t0001g0107 others(4): Show a0001c0001t0001g0029 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0003g0095 a0001c0001t0018g0003	7	212	0.0330	21	c.816 others(36): Show c.816+153_816+154insAAAAAAAAAAAAATATATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01106.hp1 HG01981.hp2 others(11): Show HG00438.hp2 HG01106.hp1 HG01981.hp2 HG02074.hp1 HG03017.hp2 NA18967.hp1 NA18982.hp2 NA18983.hp1 NA18992.hp2 NA19009.hp1 NA19030.hp2 NA19065.hp1 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 a0001c0004t0001 a0001c0005t0001 a0001c0009t0001	a0001c0001t0001g0031 a0001c0001t0001g0056 a0001c0001t0001g0066 others(11): Show a0001c0001t0001g0031 a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0121 a0001c0001t0001g0193 a0001c0001t0002g0043 a0001c0001t0024g0211 a0001c0004t0001g0119 a0001c0005t0001g0025 a0001c0009t0001g0101	14	212	0.0660	21	c.816 others(36): Show c.816+153_816+154insAAAAAAAAAAAAAAATATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATTT others(14): Show ATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18947.hp1 NA18952.hp1 others(3): Show HG03486.hp1 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18991.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0019g0196	6	212	0.0283	21	c.816 others(36): Show c.816+153_816+154insAAAAAAAAAAAAAAAAATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar

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