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	69506868	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0124 a0001c0001t0124	a0001c0001t0124g0188 a0001c0001t0124g0188	1	298	0.0034	12	c.216 others(29): Show c.2164+541_2164+552dupCACACACACACA	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	15/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69640014	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18963.hp2 HG02135.hp2 NA18963.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0020 a0002c0002t0003 a0001c0001t0020 a0002c0002t0003	a0001c0001t0020g0202 a0002c0002t0003g0203 a0001c0001t0020g0202 a0002c0002t0003g0203	2	298	0.0067	12	c.163 others(29): Show c.163+2852_163+2863dupGTGTGTGTGTGT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69640053	A A	ACACACAC others(5): Show ACACACACTCTCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0134 a0002c0016t0134	a0002c0016t0134g0272 a0002c0016t0134g0272	1	298	0.0034	12	c.163 others(29): Show c.163+2824_163+2825insAGAGAGTGTGTG	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69640053	A A	ACACACTC others(5): Show ACACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03516.hp1 HG01891.hp2 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0014 a0001c0001 a0003c0014	a0001c0001t0118 a0003c0014t0025 a0001c0001t0118 a0003c0014t0025	a0001c0001t0118g0184 a0003c0014t0025g0286 a0001c0001t0118g0184 a0003c0014t0025g0286	2	298	0.0067	12	c.163 others(29): Show c.163+2824_163+2825insAGAGAGAGTGTG	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69644165	T T	TTCGCGCC others(5): Show TTCGCGCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0118	a0001c0001t0118g0184 a0001c0001t0118g0184	1	298	0.0034	12	c.-82 others(21): Show c.-826_-825insGGGGGGGCGCGA	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding		427		chr2	TogoVar
AAK1_chr2_69452997_69648739	69647388	T T	TTTTATTT others(5): Show TTTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0009 a0001c0004 a0001c0009	a0001c0004t0067 a0001c0009t0141 a0001c0004t0067 a0001c0009t0141	a0001c0004t0067g0077 a0001c0009t0141g0191 a0001c0004t0067g0077 a0001c0009t0141g0191	2	298	0.0067	12	c.-40 others(23): Show c.-4060_-4049dupTAAATAAATAAA	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding		3650		chr2	TogoVar
AAMDC_chr11_77816144_77877352	77852224	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	382	0.0026	12	c.132 others(29): Show c.132+9602_132+9613dupAAAAAAAAAAAA	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77858302	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	382	0.0026	12	c.133 others(31): Show c.133-11406_133-11395dupTTTTTTTTTTTT	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77858403	C C	CGGCTCGA others(5): Show CGGCTCGAATGCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(82): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01361.hp1 HG01433.hp1 HG01884.hp1 HG01993.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02145.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18957.hp1 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18972.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA19003.hp2 NA19005.hp2 NA19011.hp1 NA19056.hp1 NA19057.hp1 NA19062.hp1 NA19068.hp1 NA19078.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0004 a0001c0002 a0002c0003 a0002c0004	a0001c0002t0001 a0002c0003t0001 a0002c0004t0001 a0001c0002t0001 a0002c0003t0001 a0002c0004t0001	a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 others(80): Show a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0085 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0002c0003t0001g0002 a0002c0003t0001g0003 a0002c0003t0001g0013 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0043 a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0068 a0002c0003t0001g0069 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0077 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0088 a0002c0004t0001g0025	85	382	0.2225	12	c.133 others(31): Show c.133-11308_133-11307insTGGCTCGAATGC	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
AANAT_chr17_76462603_76475117	76470091	G G	GAGATAAG others(5): Show GAGATAAGGTGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	426	0.0024	12	c.12 others(21): Show c.122_*133dupAGATAAGGTGGC	AANAT	ENSG00000129673.10	transcript	ENST00000392492.8	protein_coding	4/4	134	INFO_REALIGN_3_PRIME	chr17	TogoVar
AAR2_chr20_36231478_36261933	36232816	C C	CCTCTCTC others(5): Show CCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG03471.hp1 NA19030.hp2 HG02622.hp1 HG03471.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0006 a0001c0002t0002g0190 a0001c0002t0001g0006 a0001c0002t0002g0190	3	298	0.0101	12	c.-37 others(23): Show c.-3736_-3735insCTCTCTCTCTCT	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding		3661		chr20	TogoVar
AAR2_chr20_36231478_36261933	36258142	T T	TACACACA others(5): Show TACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01261.hp2 HG02809.hp1 others(4): Show HG01081.hp1 HG01261.hp2 HG02809.hp1 HG03041.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0079 a0001c0002t0001g0006 a0001c0002t0001g0035 others(4): Show a0001c0001t0001g0079 a0001c0002t0001g0006 a0001c0002t0001g0035 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182	7	298	0.0235	12	c.23 others(23): Show c.2397_*2398insACACACACACAC	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding		1210		chr20	TogoVar
AARS1_chr16_70247298_70294506	70272889	G G	GACACACA others(5): Show GACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG01243.hp1 others(21): Show HG00639.hp2 HG00738.hp1 HG01243.hp1 HG02055.hp1 HG02257.hp2 HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02896.hp1 HG03041.hp2 HG03130.hp2 HG03239.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 NA19010.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0005 a0001c0001 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 a0003c0005t0001	a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0043 others(21): Show a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0332 a0001c0001t0002g0243 a0001c0001t0002g0264 a0001c0001t0002g0291 a0001c0001t0002g0311 a0001c0001t0002g0312 a0002c0004t0001g0347 a0003c0005t0001g0152	24	362	0.0663	12	c.480 others(27): Show c.480-929_480-918dupGTGTGTGTGTGT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	4/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70275936	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02896.hp2 HG02922.hp1 HG02559.hp2 HG02896.hp2 HG02922.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0351 a0002c0004t0001g0356 a0002c0004t0001g0358 a0002c0004t0001g0351 a0002c0004t0001g0356 a0002c0004t0001g0358	3	362	0.0083	12	c.479 others(27): Show c.479+538_479+549dupTTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	4/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70293597	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG03540.hp2 HG02109.hp1 HG02451.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0001 a0001c0002t0004g0149 a0001c0002t0004g0150 a0001c0002t0001g0001 a0001c0002t0004g0149 a0001c0002t0004g0150	3	362	0.0083	12	c.-42 others(23): Show c.-4210_-4199dupAAAAAAAAAAAA	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		4092		chr16	TogoVar
AARS2_chr6_44293731_44318347	44313696	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03209.hp1 HG03540.hp1 HG03098.hp2 HG03209.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0008 a0001c0002t0002g0006 a0001c0002t0002g0095 a0001c0001t0001g0008 a0001c0002t0002g0006 a0001c0002t0002g0095	3	396	0.0076	12	c.-37 others(21): Show c.-374_-373insACACACACACAC	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding		350		chr6	TogoVar
AARS2_chr6_44293731_44318347	44314201	G G	GCTCATGG others(5): Show GCTCATGGGGCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG04115.hp1 HG03654.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	2	396	0.0051	12	c.-87 others(21): Show c.-879_-878insAAGCCCCATGAG	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding		855		chr6	TogoVar
AASDH_chr4_56333290_56392491	56341389	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA20129.hp2 NA20300.hp2 HG03471.hp1 NA20129.hp2 NA20300.hp2	a0003 a0011 a0003 a0011	a0003c0003 a0011c0014 a0003c0003 a0011c0014	a0003c0003t0002 a0011c0014t0001 a0003c0003t0002 a0011c0014t0001	a0003c0003t0002g0256 a0003c0003t0002g0292 a0011c0014t0001g0282 a0003c0003t0002g0256 a0003c0003t0002g0292 a0011c0014t0001g0282	3	382	0.0079	12	c.290 others(31): Show c.2907+1434_2907+1445dupAAAAAAAAAAAA	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	14/14			chr4	TogoVar
AASDH_chr4_56333290_56392491	56381649	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0226 a0002c0002t0001g0226	1	382	0.0026	12	c.351 others(27): Show c.351+816_351+827dupTGTGTGTGTGTG	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	3/14			chr4	TogoVar
AASDH_chr4_56333290_56392491	56381649	T T	TCTCACAC others(5): Show TCTCACACACACA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01891.hp2 HG02080.hp1 others(23): Show HG01192.hp1 HG01891.hp2 HG02080.hp1 HG02145.hp2 HG02280.hp1 HG02300.hp1 HG02572.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03831.hp2 NA18939.hp1 NA18941.hp2 NA18949.hp2 NA18954.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18986.hp2 NA18987.hp1 NA19057.hp2 NA19081.hp2 NA19085.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0008 a0013	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0004c0025 a0007c0008 a0008c0011 a0013c0017	a0001c0001t0001 a0002c0002t0001 a0003c0003t0002 others(5): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0002 a0004c0004t0001 a0004c0025t0001 a0007c0008t0001 a0008c0011t0002 a0013c0017t0001	a0001c0001t0001g0125 a0002c0002t0001g0201 a0002c0002t0001g0202 others(21): Show a0001c0001t0001g0125 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0219 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0235 a0003c0003t0002g0248 a0003c0003t0002g0249 a0004c0004t0001g0008 a0004c0004t0001g0041 a0004c0004t0001g0127 a0004c0004t0001g0128 a0004c0004t0001g0129 a0004c0025t0001g0126 a0007c0008t0001g0326 a0008c0011t0002g0205 a0008c0011t0002g0206 a0013c0017t0001g0211	26	382	0.0681	12	c.351 others(27): Show c.351+827_351+828insTGTGTGTGTGAG	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	3/14			chr4	TogoVar
AASDH_chr4_56333290_56392491	56381649	T T	TCTCTCAC others(5): Show TCTCTCACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0003 a0005c0007t0003	a0005c0007t0003g0033 a0005c0007t0003g0033	1	382	0.0026	12	c.351 others(27): Show c.351+827_351+828insTGTGTGTGAGAG	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	3/14			chr4	TogoVar
AATF_chr17_36943954_37061871	37001395	A A	AGGAGGGA others(5): Show AGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00639.hp2 others(22): Show HG00408.hp1 HG00558.hp2 HG00639.hp2 HG00642.hp2 HG01074.hp1 HG02027.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG03098.hp2 HG03239.hp1 HG03834.hp2 NA18945.hp1 NA18963.hp2 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19056.hp2 NA19057.hp2 NA19065.hp1 NA19075.hp2 NA19084.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0003c0005t0001 a0001c0001t0001 a0001c0001t0002 a0003c0005t0001	a0001c0001t0001g0096 a0001c0001t0001g0242 a0001c0001t0002g0001 others(21): Show a0001c0001t0001g0096 a0001c0001t0001g0242 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0110 a0001c0001t0002g0115 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0156 a0001c0001t0002g0215 a0001c0001t0002g0216 a0003c0005t0001g0095	25	245	0.1020	12	c.139 others(33): Show c.1398+10540_1398+10551dupGAGGGAGGGAGG	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATF_chr17_36943954_37061871	37001405	G G	GAGGAAGG others(5): Show GAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18992.hp1 NA18992.hp2 HG02080.hp2 NA18992.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0067 a0001c0001t0001g0197 a0001c0001t0006g0222 a0001c0001t0001g0067 a0001c0001t0001g0197 a0001c0001t0006g0222	3	245	0.0122	12	c.139 others(33): Show c.1398+10587_1398+10598dupGAAGGAAGGAAG	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATF_chr17_36943954_37061871	37001405	G G	GAGGGAGG others(5): Show GAGGGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp1 HG00738.hp2 others(9): Show HG00621.hp1 HG00738.hp1 HG00738.hp2 HG01243.hp2 HG02155.hp2 HG02280.hp1 HG02922.hp1 HG03139.hp1 HG03471.hp1 HG06807.hp2 NA19003.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0001t0001g0088 others(9): Show a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0193 a0001c0001t0001g0214 a0001c0001t0001g0228 a0001c0002t0002g0141 a0001c0002t0002g0236 a0001c0002t0002g0238	12	245	0.0490	12	c.139 others(33): Show c.1398+10551_1398+10552insGAGGAAGGAAGG	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATF_chr17_36943954_37061871	37001405	G G	GAGGGAGG others(5): Show GAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	245	0.0041	12	c.139 others(33): Show c.1398+10551_1398+10552insGAGGGAGGAAGG	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATF_chr17_36943954_37061871	37014267	G G	GTAATAAT others(5): Show GTAATAATAATAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG01891.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0074 a0001c0001t0001g0028 a0001c0001t0001g0074	2	245	0.0082	12	c.139 others(31): Show c.1399-4713_1399-4702dupTAATAATAATAA	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATF_chr17_36943954_37061871	37022113	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0013 a0003c0005t0001g0013	1	245	0.0041	12	c.154 others(31): Show c.1547+1127_1547+1138dupTGTGTGTGTGTG	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATF_chr17_36943954_37061871	37046730	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03209.hp1 HG02922.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0105 a0001c0003t0001g0034 a0001c0001t0001g0105 a0001c0003t0001g0034	2	245	0.0082	12	c.162 others(31): Show c.1620-9842_1620-9831dupACACACACACAC	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATF_chr17_36943954_37061871	37058147	G G	GTATTTAT others(5): Show GTATTTATTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02486.hp2 HG02155.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0004 a0001c0002t0002 a0001c0003t0004	a0001c0002t0002g0238 a0001c0003t0004g0046 a0001c0002t0002g0238 a0001c0003t0004g0046	2	245	0.0082	12	c.14 others(23): Show c.1483_*1484insTATTTATTTATT	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding		1277		chr17	TogoVar
AATK_chr17_81112295_81171221	81116462	G G	GGCCCCAG others(5): Show GGCCCCAGCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0006 a0006	a0006c0056 a0006c0056	a0006c0056t0011 a0006c0056t0011	a0006c0056t0011g0332 a0006c0056t0011g0332	1	368	0.0027	12	c.19 others(23): Show c.1939_*1940insTGGGGCTGGGGC	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding		832		chr17	TogoVar
ABAT_chr16_8669617_8789570	8673396	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01192.hp1 HG03195.hp1 HG01175.hp2 HG01192.hp1 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0006 a0001c0003 a0002c0002 a0002c0006	a0001c0003t0001 a0002c0002t0006 a0002c0006t0003 a0001c0003t0001 a0002c0002t0006 a0002c0006t0003	a0001c0003t0001g0240 a0002c0002t0006g0244 a0002c0006t0003g0023 a0001c0003t0001g0240 a0002c0002t0006g0244 a0002c0006t0003g0023	3	362	0.0083	12	c.-13 others(23): Show c.-1357_-1356insTGTGTGTGTGTG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding		1220		chr16	TogoVar
ABAT_chr16_8669617_8789570	8682186	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp2 HG01099.hp1 others(1): Show HG00140.hp1 HG00733.hp2 HG01099.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0015 a0001c0001 a0002c0002 a0002c0015	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0002c0015t0005	a0001c0001t0001g0058 a0001c0001t0002g0057 a0002c0002t0002g0018 others(1): Show a0001c0001t0001g0058 a0001c0001t0002g0057 a0002c0002t0002g0018 a0002c0015t0005g0310	4	362	0.0111	12	c.-42 others(29): Show c.-42+7505_-42+7516dupCACACACACACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8707353	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02723.hp2 others(2): Show HG02055.hp2 HG02145.hp1 HG02723.hp2 NA18975.hp1 NA19030.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0002c0006 a0002c0017 others(1): Show a0002c0002 a0002c0006 a0002c0017 a0004c0014	a0002c0002t0003 a0002c0002t0034 a0002c0006t0002 others(2): Show a0002c0002t0003 a0002c0002t0034 a0002c0006t0002 a0002c0017t0002 a0004c0014t0001	a0002c0002t0003g0309 a0002c0002t0034g0046 a0002c0006t0002g0118 others(2): Show a0002c0002t0003g0309 a0002c0002t0034g0046 a0002c0006t0002g0118 a0002c0017t0002g0044 a0004c0014t0001g0041	5	362	0.0138	12	c.-41 others(31): Show c.-41-28340_-41-28329dupTTTTTTTTTTTT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8710694	C C	CAGAGAGA others(5): Show CAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0221 a0001c0003t0003g0221	1	362	0.0028	12	c.-41 others(31): Show c.-41-24980_-41-24969dupAGAGAGAGAGAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8710727	A A	AGAGAGAG others(5): Show AGAGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03834.hp1 HG04115.hp2 HG03017.hp1 HG03834.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0003t0036 a0001c0001t0002 a0001c0001t0004 a0001c0003t0036	a0001c0001t0002g0151 a0001c0001t0004g0117 a0001c0003t0036g0158 a0001c0001t0002g0151 a0001c0001t0004g0117 a0001c0003t0036g0158	3	362	0.0083	12	c.-41 others(31): Show c.-41-24969_-41-24968insAGAGGGAGGGAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8710727	A A	AGGGAGAG others(5): Show AGGGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02027.hp2 HG02735.hp1 others(3): Show HG01934.hp1 HG02027.hp2 HG02735.hp1 HG02809.hp2 HG03239.hp1 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0002c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0003 a0002c0004t0002 a0002c0016t0003	a0001c0001t0001g0227 a0001c0001t0002g0226 a0001c0001t0005g0138 others(3): Show a0001c0001t0001g0227 a0001c0001t0002g0226 a0001c0001t0005g0138 a0002c0002t0003g0139 a0002c0004t0002g0229 a0002c0016t0003g0235	6	362	0.0166	12	c.-41 others(31): Show c.-41-24971_-41-24970insGGAGAGGGAGGG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8711762	A A	AGATGGAT others(5): Show AGATGGATGGGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00438.hp1 others(60): Show HG00099.hp1 HG00408.hp1 HG00438.hp1 HG00639.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01433.hp1 HG01496.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02965.hp1 HG03098.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03942.hp2 NA18522.hp1 NA18951.hp2 NA18977.hp1 NA18986.hp1 NA18991.hp2 NA19002.hp2 NA19009.hp2 NA19030.hp1 NA19058.hp2 NA19066.hp1 NA19077.hp2 NA19083.hp1 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0021 others(9): Show a0001c0001 a0001c0003 a0001c0021 a0002c0002 a0002c0004 a0002c0005 a0002c0006 a0002c0007 a0002c0009 a0002c0015 a0002c0017 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0021t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0012 a0002c0002t0016 a0002c0002t0017 a0002c0002t0034 a0002c0004t0001 a0002c0004t0004 a0002c0004t0007 a0002c0005t0001 a0002c0005t0003 a0002c0005t0004 a0002c0005t0008 a0002c0006t0003 a0002c0006t0005 a0002c0006t0007 a0002c0006t0030 a0002c0007t0003 a0002c0007t0007 a0002c0007t0008 a0002c0007t0011 a0002c0007t0013 a0002c0009t0002 a0002c0015t0005 a0002c0017t0002 a0004c0014t0001	a0001c0001t0001g0058 a0001c0001t0001g0076 a0001c0001t0001g0110 others(60): Show a0001c0001t0001g0058 a0001c0001t0001g0076 a0001c0001t0001g0110 a0001c0001t0001g0125 a0001c0001t0001g0280 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0153 a0001c0001t0002g0260 a0001c0001t0002g0296 a0001c0001t0003g0042 a0001c0001t0003g0047 a0001c0001t0003g0071 a0001c0001t0003g0258 a0001c0001t0005g0052 a0001c0001t0008g0040 a0001c0003t0001g0234 a0001c0003t0002g0148 a0001c0003t0002g0177 a0001c0003t0003g0276 a0001c0003t0003g0277 a0001c0003t0003g0350 a0001c0003t0003g0355 a0001c0021t0001g0111 a0002c0002t0001g0144 a0002c0002t0001g0297 a0002c0002t0002g0020 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0069 a0002c0002t0002g0184 a0002c0002t0003g0309 a0002c0002t0005g0250 a0002c0002t0006g0043 a0002c0002t0006g0351 a0002c0002t0007g0275 a0002c0002t0012g0162 a0002c0002t0012g0259 a0002c0002t0016g0143 a0002c0002t0017g0055 a0002c0002t0034g0046 a0002c0004t0001g0019 a0002c0004t0001g0128 a0002c0004t0004g0362 a0002c0004t0007g0347 a0002c0005t0001g0022 a0002c0005t0003g0070 a0002c0005t0004g0190 a0002c0005t0008g0016 a0002c0005t0008g0017 a0002c0006t0003g0023 a0002c0006t0005g0129 a0002c0006t0007g0228 a0002c0006t0030g0008 a0002c0007t0003g0005 a0002c0007t0007g0341 a0002c0007t0008g0025 a0002c0007t0011g0004 a0002c0007t0013g0027 a0002c0009t0002g0340 a0002c0015t0005g0310 a0002c0017t0002g0044 a0004c0014t0001g0041	63	362	0.1740	12	c.-41 others(31): Show c.-41-23928_-41-23927insGTGGATGGATGG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8711810	G G	GGATGGAT others(5): Show GGATGGATGGATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02145.hp2 HG02630.hp2 others(5): Show HG00639.hp1 HG02145.hp2 HG02630.hp2 HG02698.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 others(2): Show a0001c0001 a0001c0003 a0002c0004 a0002c0006 a0002c0007	a0001c0001t0002 a0001c0003t0003 a0002c0004t0001 others(3): Show a0001c0001t0002 a0001c0003t0003 a0002c0004t0001 a0002c0004t0007 a0002c0006t0005 a0002c0007t0013	a0001c0001t0002g0153 a0001c0001t0002g0260 a0001c0003t0003g0350 others(5): Show a0001c0001t0002g0153 a0001c0001t0002g0260 a0001c0003t0003g0350 a0001c0003t0003g0355 a0002c0004t0001g0128 a0002c0004t0007g0347 a0002c0006t0005g0129 a0002c0007t0013g0027	8	362	0.0221	12	c.-41 others(31): Show c.-41-23878_-41-23877insAGATGGATGGAT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8723809	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03453.hp1 NA19066.hp2 HG02165.hp1 HG03453.hp1 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0002 a0002c0004t0003 a0002c0002t0001 a0002c0004t0002 a0002c0004t0003	a0002c0002t0001g0297 a0002c0004t0002g0315 a0002c0004t0003g0196 a0002c0002t0001g0297 a0002c0004t0002g0315 a0002c0004t0003g0196	3	362	0.0083	12	c.-41 others(31): Show c.-41-11882_-41-11871dupATATATATATAT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8733051	T T	TGGGGCGG others(5): Show TGGGGCGGCTGGC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp2 HG02572.hp2 others(4): Show HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02723.hp1 HG03225.hp2 HG03471.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0002c0002t0034	a0001c0001t0001g0239 a0001c0001t0002g0030 a0001c0001t0003g0047 others(4): Show a0001c0001t0001g0239 a0001c0001t0002g0030 a0001c0001t0003g0047 a0001c0001t0004g0330 a0001c0001t0011g0238 a0001c0001t0011g0331 a0002c0002t0034g0046	7	362	0.0193	12	c.-41 others(29): Show c.-41-2647_-41-2636dupGGGGCGGCTGGC	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8735046	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03130.hp2 NA19240.hp1 HG02717.hp2 HG03130.hp2 NA19240.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0007 a0002c0007t0011 a0002c0007t0003 a0002c0007t0007 a0002c0007t0011	a0002c0007t0003g0005 a0002c0007t0007g0247 a0002c0007t0011g0004 a0002c0007t0003g0005 a0002c0007t0007g0247 a0002c0007t0011g0004	3	362	0.0083	12	c.-41 others(27): Show c.-41-642_-41-641insAAAAAAAAAAAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737484	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0222 a0002c0005t0001g0222	1	362	0.0028	12	c.70+ others(27): Show c.70+1679_70+1690dupTAAATAAATAAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737941	A A	AAAGGAAG others(5): Show AAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0097 a0001c0003t0001g0097	1	362	0.0028	12	c.70+ others(27): Show c.70+2139_70+2140insGAAGGAAGGAAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGAAAG others(5): Show GAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0308 a0002c0002t0010g0308	1	362	0.0028	12	c.70+ others(27): Show c.70+2181_70+2182insAGAAAGAAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGGAAG others(5): Show GAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0292 a0001c0001t0040g0292	1	362	0.0028	12	c.70+ others(27): Show c.70+2181_70+2182insAGGAAGGAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743423	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18975.hp1 NA19007.hp1 NA18955.hp1 NA18975.hp1 NA19007.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0104 a0002c0006t0002g0118 a0002c0006t0002g0161 a0002c0006t0002g0104 a0002c0006t0002g0118 a0002c0006t0002g0161	3	362	0.0083	12	c.71- others(27): Show c.71-2567_71-2556dupTATATATATATA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743441	A A	ATATATAT others(5): Show ATATATATATATG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG06807.hp1 HG03453.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0297 a0002c0002t0001g0010 a0002c0002t0001g0297	2	362	0.0055	12	c.71- others(27): Show c.71-2556_71-2555insTATATATGTATA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8754662	A A	ATTTCTTT others(5): Show ATTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0316 a0002c0009t0002g0316	1	362	0.0028	12	c.317 others(29): Show c.317-3092_317-3091insCTTTCTTTCTTT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8773105	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG00738.hp1 others(33): Show HG00438.hp1 HG00609.hp1 HG00738.hp1 HG00741.hp2 HG01074.hp2 HG01123.hp2 HG01515.hp1 HG01515.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02015.hp1 HG02040.hp1 HG02074.hp2 HG02155.hp2 HG02165.hp1 HG03017.hp2 HG03579.hp2 HG03831.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18986.hp2 NA18995.hp2 NA18999.hp2 NA19070.hp1 NA19070.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0021 a0001c0023 others(3): Show a0001c0003 a0001c0021 a0001c0023 a0002c0002 a0002c0004 a0002c0005	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(14): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0021t0001 a0001c0023t0024 a0002c0002t0001 a0002c0002t0012 a0002c0002t0017 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0031 a0002c0005t0001 a0002c0005t0003 a0002c0005t0004 a0002c0005t0015	a0001c0003t0001g0089 a0001c0003t0001g0234 a0001c0003t0001g0252 others(33): Show a0001c0003t0001g0089 a0001c0003t0001g0234 a0001c0003t0001g0252 a0001c0003t0002g0179 a0001c0003t0002g0189 a0001c0003t0002g0249 a0001c0003t0003g0100 a0001c0003t0003g0133 a0001c0003t0003g0187 a0001c0003t0003g0211 a0001c0003t0003g0236 a0001c0003t0003g0276 a0001c0003t0003g0277 a0001c0003t0003g0359 a0001c0003t0004g0123 a0001c0003t0004g0290 a0001c0003t0004g0294 a0001c0003t0004g0360 a0001c0021t0001g0111 a0001c0023t0024g0281 a0002c0002t0001g0033 a0002c0002t0012g0259 a0002c0002t0017g0055 a0002c0004t0001g0282 a0002c0004t0001g0288 a0002c0004t0002g0174 a0002c0004t0002g0315 a0002c0004t0003g0001 a0002c0004t0003g0068 a0002c0004t0003g0181 a0002c0004t0031g0333 a0002c0005t0001g0214 a0002c0005t0001g0237 a0002c0005t0003g0132 a0002c0005t0004g0186 a0002c0005t0015g0084	36	362	0.0995	12	c.954 others(27): Show c.954+220_954+231dupCACACACACACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8773147	C C	CACACACA others(5): Show CACACACACACAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0045 a0002c0002t0045	a0002c0002t0045g0311 a0002c0002t0045g0311	1	362	0.0028	12	c.954 others(27): Show c.954+231_954+232insCACACACACATA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr16	TogoVar

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