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
ATXN7_chr3_63858867_64008462	63982623	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG00738.hp2 others(26): Show HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01255.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02647.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03516.hp2 HG06807.hp2 NA18522.hp1 NA18954.hp2 NA18989.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0013	a0001c0001 a0002c0002 a0003c0004 others(5): Show a0001c0001 a0002c0002 a0003c0004 a0004c0006 a0004c0027 a0006c0012 a0006c0028 a0013c0013	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(11): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0063 a0002c0002t0018 a0003c0004t0003 a0003c0004t0023 a0004c0006t0004 a0004c0006t0024 a0004c0027t0004 a0006c0012t0007 a0006c0012t0019 a0006c0028t0041 a0013c0013t0004	a0001c0001t0001g0056 a0001c0001t0001g0077 a0001c0001t0001g0096 others(25): Show a0001c0001t0001g0056 a0001c0001t0001g0077 a0001c0001t0001g0096 a0001c0001t0006g0086 a0001c0001t0006g0087 a0001c0001t0006g0088 a0001c0001t0006g0089 a0001c0001t0009g0085 a0001c0001t0063g0139 a0002c0002t0018g0140 a0002c0002t0018g0143 a0003c0004t0003g0193 a0003c0004t0023g0175 a0004c0006t0004g0003 a0004c0006t0004g0125 a0004c0006t0004g0133 a0004c0006t0004g0134 a0004c0006t0004g0136 a0004c0006t0004g0138 a0004c0006t0004g0150 a0004c0006t0024g0124 a0004c0027t0004g0126 a0006c0012t0007g0114 a0006c0012t0019g0012 a0006c0028t0041g0135 a0013c0013t0004g0074 a0013c0013t0004g0129 a0013c0013t0004g0130	29	300	0.0967	8	c.101 others(25): Show c.1012+207_1012+214dupGTGTGTGT	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63993275	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01192.hp2 HG02486.hp2 others(3): Show HG01070.hp2 HG01192.hp2 HG02486.hp2 HG02647.hp1 HG02922.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0042 a0002c0002t0044 others(1): Show a0002c0002t0018 a0002c0002t0042 a0002c0002t0044 a0002c0002t0050	a0002c0002t0018g0140 a0002c0002t0018g0143 a0002c0002t0018g0144 others(3): Show a0002c0002t0018g0140 a0002c0002t0018g0143 a0002c0002t0018g0144 a0002c0002t0042g0141 a0002c0002t0044g0146 a0002c0002t0050g0145	6	300	0.0200	8	c.168 others(27): Show c.1683-2215_1683-2208dupTTTTTTTT	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
AUH_chr9_91208823_91366918	91347212	T T	TTTTGTTT others(1): Show TTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG01071.hp1 others(32): Show HG00438.hp1 HG00544.hp2 HG01071.hp1 HG01106.hp2 HG01433.hp1 HG01993.hp2 HG02027.hp2 HG02135.hp2 HG02155.hp2 HG02559.hp1 HG02602.hp1 HG02683.hp1 HG02723.hp1 HG02735.hp2 HG03225.hp1 HG03710.hp2 HG04204.hp2 NA18522.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18951.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18969.hp1 NA18970.hp2 NA18979.hp1 NA18981.hp2 NA18995.hp1 NA18995.hp2 NA19009.hp1 NA19060.hp2 NA19075.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0024 others(32): Show a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0002t0001g0016 a0001c0002t0001g0115 a0001c0002t0001g0152 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0274 a0001c0002t0001g0337 a0001c0002t0004g0276	35	358	0.0978	8	c.418 others(25): Show c.418+8663_418+8670dupCAAACAAA	AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	3/9			chr9	TogoVar
AUNIP_chr1_25829006_25864457	25843181	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01106.hp1 HG01255.hp1 others(3): Show HG01069.hp2 HG01106.hp1 HG01255.hp1 HG02258.hp2 HG02970.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0066 others(3): Show a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0018g0194	6	352	0.0171	8	c.79- others(23): Show c.79-5628_79-5627insATATATAT	AUNIP	ENSG00000127423.11	transcript	ENST00000374298.4	protein_coding	1/2			chr1	TogoVar
AUNIP_chr1_25829006_25864457	25843183	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp2 HG02965.hp1 others(4): Show HG02630.hp2 HG02809.hp2 HG02965.hp1 HG03130.hp1 HG03486.hp1 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0064 others(4): Show a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0015g0224 a0001c0001t0015g0225	7	352	0.0199	8	c.79- others(23): Show c.79-5630_79-5629insATATATAT	AUNIP	ENSG00000127423.11	transcript	ENST00000374298.4	protein_coding	1/2			chr1	TogoVar
AUP1_chr2_74521652_74534706	74521768	T T	TCTCTCCC others(1): Show TCTCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02970.hp1 HG03209.hp1 others(3): Show HG02451.hp2 HG02970.hp1 HG03209.hp1 HG03540.hp1 NA18522.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0003c0005t0001g0012 a0001c0001t0001g0001 a0001c0001t0001g0002 a0003c0005t0001g0012	6	388	0.0155	8	c.50 others(19): Show c.5024_*5031dupGGGGAGAG	AUP1	ENSG00000115307.17	transcript	ENST00000377526.4	protein_coding		4883		chr2	TogoVar
AURKB_chr17_8199734_8215575	8208593	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(63): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01943.hp1 HG02056.hp1 HG02135.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02683.hp1 HG02717.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG03017.hp2 HG03225.hp1 HG03471.hp1 HG03927.hp1 HG03927.hp2 NA18747.hp1 NA18952.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18966.hp2 NA18969.hp2 NA18972.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18988.hp2 NA18992.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19084.hp2 NA19090.hp1 NA20300.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 others(14): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0002g0101 a0002c0002t0001g0062	66	428	0.1542	8	c.49- others(21): Show c.49-761_49-754dupATTTATTT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding	2/8			chr17	TogoVar
AURKB_chr17_8199734_8215575	8208632	A A	ATAAATAA others(1): Show ATAAATAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01255.hp2 HG01433.hp2 HG00140.hp2 HG01255.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	3	428	0.0070	8	c.49- others(21): Show c.49-793_49-792insATTATTTA	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding	2/8			chr17	TogoVar
AURKC_chr19_57226023_57240548	57239587	T T	TAGAGAGA others(1): Show TAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01109.hp2 HG01243.hp2 others(51): Show HG00099.hp2 HG01109.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01884.hp1 HG02080.hp1 HG02257.hp1 HG02451.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03041.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18953.hp1 NA18957.hp2 NA18962.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18985.hp2 NA18994.hp1 NA18995.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19063.hp2 NA19082.hp2 NA19089.hp1 NA20300.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0003	a0001c0001t0001g0016 a0001c0001t0002g0003 a0001c0001t0002g0005 others(9): Show a0001c0001t0001g0016 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0011g0010 a0001c0002t0003g0011	54	410	0.1317	8	c.41 others(19): Show c.4170_*4171insAGAGAGAG	AURKC	ENSG00000105146.14	transcript	ENST00000302804.12	protein_coding		4040		chr19	TogoVar
AUTS2_chr7_69593475_70798506	69600053	G G	GCTGTCTG others(1): Show GCTGTCTGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02258.hp2 HG02647.hp1 others(2): Show HG01433.hp1 HG02258.hp2 HG02647.hp1 HG03225.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0001t0023	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0076 others(2): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0076 a0001c0001t0019g0075 a0001c0001t0023g0072	5	76	0.0658	8	c.309 others(23): Show c.309+118_309+125dupGTCTGTCT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69614314	C C	CTCTTTCT others(1): Show CTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG01884.hp1 others(9): Show HG00280.hp1 HG00597.hp1 HG01884.hp1 HG02055.hp2 HG02615.hp1 HG02717.hp2 HG02886.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp2 HG04199.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0028 a0001c0001t0032 a0001c0003t0027 a0002c0002t0031	a0001c0001t0001g0030 a0001c0001t0001g0071 a0001c0001t0003g0068 others(9): Show a0001c0001t0001g0030 a0001c0001t0001g0071 a0001c0001t0003g0068 a0001c0001t0006g0038 a0001c0001t0014g0070 a0001c0001t0016g0002 a0001c0001t0018g0003 a0001c0001t0019g0075 a0001c0001t0028g0021 a0001c0001t0032g0016 a0001c0003t0027g0009 a0002c0002t0031g0007	12	76	0.1579	8	c.309 others(27): Show c.309+14398_309+14405dupCTTTCTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69668073	G G	GTGTATAG others(1): Show GTGTATAGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(46): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00597.hp2 HG00741.hp2 HG01081.hp2 HG01175.hp2 HG01243.hp1 HG01433.hp2 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG02055.hp1 HG02055.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG04199.hp2 NA18612.hp1 NA18952.hp1 NA19030.hp1 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0002c0002 a0002c0010 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0003t0008 a0001c0003t0027 a0001c0005t0030 a0001c0008t0017 a0002c0002t0001 a0002c0002t0024 a0002c0002t0026 a0002c0002t0031 a0002c0002t0036 a0002c0010t0033 a0004c0009t0001	a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0002g0045 others(46): Show a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0003g0061 a0001c0001t0003g0066 a0001c0001t0004g0042 a0001c0001t0004g0048 a0001c0001t0004g0051 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0005g0020 a0001c0001t0007g0055 a0001c0001t0008g0063 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0009g0023 a0001c0001t0010g0064 a0001c0001t0010g0065 a0001c0001t0011g0041 a0001c0001t0015g0001 a0001c0001t0016g0002 a0001c0001t0018g0003 a0001c0001t0021g0060 a0001c0001t0025g0050 a0001c0001t0028g0021 a0001c0001t0029g0022 a0001c0001t0032g0016 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0003t0008g0039 a0001c0003t0027g0009 a0001c0005t0030g0013 a0001c0008t0017g0046 a0002c0002t0001g0057 a0002c0002t0024g0059 a0002c0002t0026g0011 a0002c0002t0031g0007 a0002c0002t0036g0017 a0002c0010t0033g0014 a0004c0009t0001g0043	49	76	0.6447	8	c.309 others(27): Show c.309+68112_309+68113insGTATAGTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69670555	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp2 NA19030.hp2 others(1): Show HG01243.hp2 HG02257.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0006 a0001c0004t0012 a0001c0004t0013 others(1): Show a0001c0001t0006 a0001c0004t0012 a0001c0004t0013 a0001c0007t0006	a0001c0001t0006g0010 a0001c0004t0012g0024 a0001c0004t0013g0025 others(1): Show a0001c0001t0006g0010 a0001c0004t0012g0024 a0001c0004t0013g0025 a0001c0007t0006g0027	4	76	0.0526	8	c.309 others(27): Show c.309+70622_309+70629dupAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69747784	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp2 HG02055.hp1 others(6): Show HG01243.hp1 HG01433.hp2 HG02055.hp1 HG02615.hp2 HG02622.hp2 HG03017.hp2 HG03239.hp2 HG03453.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0018 a0002c0002t0001 a0002c0002t0026	a0001c0001t0003g0061 a0001c0001t0003g0066 a0001c0001t0005g0020 others(6): Show a0001c0001t0003g0061 a0001c0001t0003g0066 a0001c0001t0005g0020 a0001c0001t0007g0055 a0001c0001t0008g0063 a0001c0001t0011g0041 a0001c0001t0018g0003 a0002c0002t0001g0057 a0002c0002t0026g0011	9	76	0.1184	8	c.309 others(29): Show c.309+147847_309+147854dupGTGTGTGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69870448	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03704.hp2 HG03453.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0030 a0001c0001t0005g0028 a0001c0001t0001g0030 a0001c0001t0005g0028	2	76	0.0263	8	c.310 others(27): Show c.310-28827_310-28820dupATATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69914356	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02717.hp2 HG03540.hp1 HG00099.hp2 HG02717.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0009 a0001c0001t0032 a0001c0008t0017 a0001c0001t0009 a0001c0001t0032 a0001c0008t0017	a0001c0001t0009g0023 a0001c0001t0032g0016 a0001c0008t0017g0046 a0001c0001t0009g0023 a0001c0001t0032g0016 a0001c0008t0017g0046	3	76	0.0395	8	c.522 others(27): Show c.522+14890_522+14897dupCACACACA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69926445	G G	GTCTATCT others(1): Show GTCTATCTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG01884.hp2 others(3): Show HG00280.hp1 HG00597.hp1 HG01884.hp2 HG02165.hp1 HG02717.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0018	a0001c0001t0001g0071 a0001c0001t0002g0053 a0001c0001t0003g0068 others(3): Show a0001c0001t0001g0071 a0001c0001t0002g0053 a0001c0001t0003g0068 a0001c0001t0004g0054 a0001c0001t0010g0065 a0001c0001t0018g0003	6	76	0.0790	8	c.522 others(27): Show c.522+26987_522+26994dupATCTATCT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69926445	G G	GTCTGTCT others(1): Show GTCTGTCTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03453.hp1 HG02622.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0061 a0002c0002t0001g0057 a0001c0001t0003g0061 a0002c0002t0001g0057	2	76	0.0263	8	c.522 others(27): Show c.522+26950_522+26951insGTCTATCT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69927186	T T	TTATATAT others(1): Show TTATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03041.hp2 HG02630.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0008 a0001c0001t0001 a0001c0003t0008	a0001c0001t0001g0026 a0001c0003t0008g0069 a0001c0001t0001g0026 a0001c0003t0008g0069	2	76	0.0263	8	c.522 others(27): Show c.522+27701_522+27708dupTATATATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69978859	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02165.hp1 HG03540.hp1 others(1): Show HG02055.hp1 HG02165.hp1 HG03540.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0008t0017	a0001c0001t0002g0053 a0001c0001t0005g0028 a0001c0001t0011g0041 others(1): Show a0001c0001t0002g0053 a0001c0001t0005g0028 a0001c0001t0011g0041 a0001c0008t0017g0046	4	76	0.0526	8	c.522 others(27): Show c.522+79396_522+79403dupACACACAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70004809	C C	CTTTATTT others(1): Show CTTTATTTA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp1 HG02647.hp2 others(1): Show HG02615.hp2 HG02622.hp1 HG02647.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0010 a0001c0001 a0002c0002 a0002c0010	a0001c0001t0034 a0001c0001t0035 a0002c0002t0026 others(1): Show a0001c0001t0034 a0001c0001t0035 a0002c0002t0026 a0002c0010t0033	a0001c0001t0034g0018 a0001c0001t0035g0019 a0002c0002t0026g0011 others(1): Show a0001c0001t0034g0018 a0001c0001t0035g0019 a0002c0002t0026g0011 a0002c0010t0033g0014	4	76	0.0526	8	c.522 others(29): Show c.522+105336_522+105343dupTTTATTTA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70081965	T T	TGTGCGCG others(1): Show TGTGCGCGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01175.hp2 HG02622.hp1 others(3): Show HG00099.hp2 HG01175.hp2 HG02622.hp1 HG03017.hp2 HG03704.hp1 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0010 a0001c0001 a0002c0002 a0002c0010	a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 others(3): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 a0001c0001t0029 a0002c0002t0024 a0002c0010t0033	a0001c0001t0005g0020 a0001c0001t0009g0023 a0001c0001t0028g0021 others(3): Show a0001c0001t0005g0020 a0001c0001t0009g0023 a0001c0001t0028g0021 a0001c0001t0029g0022 a0002c0002t0024g0059 a0002c0010t0033g0014	6	76	0.0790	8	c.523 others(27): Show c.523-36166_523-36165insTGCGCGCG	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70090009	C C	CAAATAAA others(1): Show CAAATAAAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00741.hp1 HG01243.hp2 others(14): Show HG00597.hp1 HG00741.hp1 HG01243.hp2 HG01433.hp1 HG01934.hp2 HG02257.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG03041.hp2 HG03225.hp2 HG03579.hp2 NA18612.hp2 NA19030.hp2 NA19240.hp2 NA20752.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0005c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0003t0008 a0001c0004t0012 a0001c0004t0013 a0001c0007t0006 a0005c0011t0007	a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0071 others(14): Show a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0003g0076 a0001c0001t0006g0010 a0001c0001t0007g0040 a0001c0001t0015g0001 a0001c0001t0016g0002 a0001c0001t0019g0075 a0001c0001t0020g0029 a0001c0001t0023g0072 a0001c0003t0008g0069 a0001c0004t0012g0024 a0001c0004t0013g0025 a0001c0007t0006g0027 a0005c0011t0007g0004	17	76	0.2237	8	c.523 others(27): Show c.523-28094_523-28087dupAAATAAAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70112311	C C	CATAACAG others(1): Show CATAACAGA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02055.hp2 HG02886.hp2 others(2): Show HG01952.hp2 HG02055.hp2 HG02886.hp2 HG03540.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0005 a0001c0001t0009 a0001c0003t0027 others(1): Show a0001c0001t0005 a0001c0001t0009 a0001c0003t0027 a0002c0002t0031	a0001c0001t0005g0005 a0001c0001t0009g0006 a0001c0001t0009g0008 others(2): Show a0001c0001t0005g0005 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0003t0027g0009 a0002c0002t0031g0007	5	76	0.0658	8	c.523 others(25): Show c.523-5818_523-5817insACAGAATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70156891	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00741.hp2 HG01952.hp1 others(1): Show HG00597.hp2 HG00741.hp2 HG01952.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0019	a0001c0001t0001g0044 a0001c0001t0002g0045 a0001c0001t0010g0064 others(1): Show a0001c0001t0001g0044 a0001c0001t0002g0045 a0001c0001t0010g0064 a0001c0001t0019g0075	4	76	0.0526	8	c.660 others(27): Show c.660+22349_660+22356dupAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70158908	A A	ATATGATA others(1): Show ATATGATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03225.hp1 HG03516.hp2 HG02258.hp1 HG03225.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0018 a0001c0003t0008 a0002c0002t0036 a0001c0001t0018 a0001c0003t0008 a0002c0002t0036	a0001c0001t0018g0003 a0001c0003t0008g0039 a0002c0002t0036g0017 a0001c0001t0018g0003 a0001c0003t0008g0039 a0002c0002t0036g0017	3	76	0.0395	8	c.660 others(27): Show c.660+24338_660+24345dupTATGATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70303434	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02647.hp2 HG00099.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0035 a0001c0001t0009 a0001c0001t0035	a0001c0001t0009g0023 a0001c0001t0035g0019 a0001c0001t0009g0023 a0001c0001t0035g0019	2	76	0.0263	8	c.661 others(29): Show c.661-132314_661-132313insCACACACA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70303434	G G	GCGCACAC others(1): Show GCGCACACA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02258.hp2 HG02647.hp1 others(7): Show HG01952.hp2 HG02258.hp2 HG02647.hp1 HG02886.hp2 HG03225.hp2 HG03239.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0019 a0001c0001t0023 a0001c0003t0027 a0002c0002t0024	a0001c0001t0001g0074 a0001c0001t0003g0035 a0001c0001t0003g0076 others(7): Show a0001c0001t0001g0074 a0001c0001t0003g0035 a0001c0001t0003g0076 a0001c0001t0005g0005 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0019g0075 a0001c0001t0023g0072 a0001c0003t0027g0009 a0002c0002t0024g0059	10	76	0.1316	8	c.661 others(29): Show c.661-132317_661-132316insGCACACAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70338833	C C	CTTATTTA others(1): Show CTTATTTAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp1 HG01934.hp1 others(7): Show HG01081.hp1 HG01243.hp1 HG01934.hp1 HG01952.hp1 HG02258.hp1 HG02622.hp2 HG03017.hp1 HG03453.hp1 HG03516.hp1 NA18612.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0025 a0001c0003t0008 a0002c0002t0001	a0001c0001t0001g0036 a0001c0001t0002g0052 a0001c0001t0003g0061 others(7): Show a0001c0001t0001g0036 a0001c0001t0002g0052 a0001c0001t0003g0061 a0001c0001t0004g0042 a0001c0001t0004g0051 a0001c0001t0008g0063 a0001c0001t0010g0064 a0001c0001t0025g0050 a0001c0003t0008g0039 a0002c0002t0001g0057	10	76	0.1316	8	c.661 others(27): Show c.661-96880_661-96873dupATTTATTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70364566	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18612.hp1 HG03704.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0052 a0001c0001t0005g0028 a0001c0001t0002g0052 a0001c0001t0005g0028	2	76	0.0263	8	c.661 others(27): Show c.661-71142_661-71135dupTAAATAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70377325	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03017.hp1 HG02615.hp2 HG03017.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0026 a0001c0001t0004 a0002c0002t0026	a0001c0001t0004g0051 a0002c0002t0026g0011 a0001c0001t0004g0051 a0002c0002t0026g0011	2	76	0.0263	8	c.661 others(27): Show c.661-58385_661-58378dupTATATATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70410398	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02257.hp2 HG02615.hp1 others(1): Show HG01934.hp1 HG02257.hp2 HG02615.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014	a0001c0001t0003g0061 a0001c0001t0004g0042 a0001c0001t0006g0010 others(1): Show a0001c0001t0003g0061 a0001c0001t0004g0042 a0001c0001t0006g0010 a0001c0001t0014g0070	4	76	0.0526	8	c.661 others(27): Show c.661-25314_661-25307dupATTTATTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70418103	G G	GTGTGTGT others(1): Show GTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01433.hp1 HG02258.hp2 others(6): Show HG00597.hp1 HG01433.hp1 HG02258.hp2 HG02622.hp1 HG02647.hp1 HG03041.hp2 HG03225.hp2 HG03579.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0001t0023 a0001c0001t0034 a0002c0010t0033	a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0001g0073 others(6): Show a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0076 a0001c0001t0019g0075 a0001c0001t0023g0072 a0001c0001t0034g0018 a0002c0010t0033g0014	9	76	0.1184	8	c.661 others(27): Show c.661-17642_661-17641insCTGTGTGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70427094	G G	GGCAAAGA others(1): Show GGCAAAGAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG03239.hp1 HG00099.hp2 HG00741.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009	a0001c0001t0003g0035 a0001c0001t0007g0040 a0001c0001t0009g0023 a0001c0001t0003g0035 a0001c0001t0007g0040 a0001c0001t0009g0023	3	76	0.0395	8	c.661 others(25): Show c.661-8656_661-8649dupCAAAGATG	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70444343	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02165.hp2 HG04199.hp1 others(2): Show HG01952.hp2 HG02165.hp2 HG04199.hp1 NA18612.hp2 NA18952.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0022 a0003c0006t0003	a0001c0001t0001g0033 a0001c0001t0003g0031 a0001c0001t0005g0005 others(2): Show a0001c0001t0001g0033 a0001c0001t0003g0031 a0001c0001t0005g0005 a0001c0001t0022g0032 a0003c0006t0003g0034	5	76	0.0658	8	c.690 others(25): Show c.690+8586_690+8593dupTGTGTGTG	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70554345	A A	AAGCGTGA others(1): Show AAGCGTGAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA20752.hp1 NA21309.hp1 HG01081.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0016 a0001c0001t0005 a0001c0001t0015 a0001c0001t0016	a0001c0001t0005g0015 a0001c0001t0015g0001 a0001c0001t0016g0002 a0001c0001t0005g0015 a0001c0001t0015g0001 a0001c0001t0016g0002	3	76	0.0395	8	c.690 others(29): Show c.690+118565_690+118572dupAGCGTGAG	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70591384	C C	CTTTGTTT others(1): Show CTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02165.hp1 HG02165.hp2 others(13): Show HG00597.hp1 HG02165.hp1 HG02165.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02886.hp2 HG03041.hp1 HG03579.hp2 HG04199.hp1 NA18612.hp2 NA18952.hp2 NA19030.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0002c0010 a0003c0006 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0003t0008 a0001c0003t0027 a0001c0005t0030 a0002c0010t0033 a0003c0006t0003 a0004c0009t0001	a0001c0001t0001g0033 a0001c0001t0001g0071 a0001c0001t0002g0053 others(13): Show a0001c0001t0001g0033 a0001c0001t0001g0071 a0001c0001t0002g0053 a0001c0001t0003g0031 a0001c0001t0003g0076 a0001c0001t0004g0056 a0001c0001t0009g0008 a0001c0001t0016g0002 a0001c0001t0020g0029 a0001c0001t0022g0032 a0001c0003t0008g0069 a0001c0003t0027g0009 a0001c0005t0030g0013 a0002c0010t0033g0014 a0003c0006t0003g0034 a0004c0009t0001g0043	16	76	0.2105	8	c.691 others(29): Show c.691-107161_691-107154dupGTTTGTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70649500	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03453.hp2 HG03239.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0030 a0001c0001t0003g0035 a0001c0001t0001g0030 a0001c0001t0003g0035	2	76	0.0263	8	c.691 others(27): Show c.691-49033_691-49026dupATTTATTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70665435	T T	TTATTTAT others(1): Show TTATTTATC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00741.hp2 others(12): Show HG00280.hp1 HG00597.hp1 HG00741.hp2 HG01243.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG02165.hp2 HG02257.hp1 HG03041.hp1 HG03239.hp1 HG03516.hp2 HG03704.hp2 NA18952.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0005c0011 a0001c0001 a0001c0005 a0005c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0018 a0001c0001t0022 a0001c0005t0030 a0005c0011t0007	a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0003g0031 others(12): Show a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0003g0031 a0001c0001t0003g0035 a0001c0001t0003g0068 a0001c0001t0004g0042 a0001c0001t0004g0048 a0001c0001t0005g0028 a0001c0001t0006g0038 a0001c0001t0008g0063 a0001c0001t0010g0064 a0001c0001t0018g0003 a0001c0001t0022g0032 a0001c0005t0030g0013 a0005c0011t0007g0004	15	76	0.1974	8	c.691 others(27): Show c.691-33118_691-33111dupCTATTTAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70665451	C C	CTATTTAT others(1): Show CTATTTATT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01175.hp2 HG01243.hp2 others(7): Show HG01081.hp2 HG01175.hp2 HG01243.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG03041.hp2 HG03225.hp2 HG03579.hp2 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0002c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0001t0019 a0001c0001t0028 a0001c0001t0029 a0001c0003t0008 a0001c0007t0006 a0002c0010t0033	a0001c0001t0001g0026 a0001c0001t0003g0076 a0001c0001t0005g0015 others(7): Show a0001c0001t0001g0026 a0001c0001t0003g0076 a0001c0001t0005g0015 a0001c0001t0014g0070 a0001c0001t0019g0075 a0001c0001t0028g0021 a0001c0001t0029g0022 a0001c0003t0008g0069 a0001c0007t0006g0027 a0002c0010t0033g0014	10	76	0.1316	8	c.691 others(27): Show c.691-33096_691-33089dupATTTATTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70716636	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02630.hp1 HG02647.hp2 others(2): Show HG01433.hp1 HG02630.hp1 HG02647.hp2 HG03239.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 a0001c0001t0025 a0001c0001t0035	a0001c0001t0001g0073 a0001c0001t0003g0066 a0001c0001t0020g0029 others(2): Show a0001c0001t0001g0073 a0001c0001t0003g0066 a0001c0001t0020g0029 a0001c0001t0025g0050 a0001c0001t0035g0019	5	76	0.0658	8	c.742 others(27): Show c.742+18038_742+18045dupAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70721279	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03579.hp2 HG03704.hp2 HG02622.hp1 HG03579.hp2 HG03704.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0003 a0001c0001t0005 a0002c0010t0033 a0001c0001t0003 a0001c0001t0005 a0002c0010t0033	a0001c0001t0003g0076 a0001c0001t0005g0028 a0002c0010t0033g0014 a0001c0001t0003g0076 a0001c0001t0005g0028 a0002c0010t0033g0014	3	76	0.0395	8	c.742 others(27): Show c.742+22686_742+22693dupGTGTGTGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70729852	T T	TTGTATGT others(1): Show TTGTATGTA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp2 HG02165.hp2 others(10): Show HG01081.hp1 HG01243.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG03453.hp1 HG03579.hp1 NA19030.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0022 a0001c0001t0023 a0001c0001t0034 a0001c0003t0008 a0001c0007t0006 a0002c0002t0001	a0001c0001t0001g0036 a0001c0001t0001g0074 a0001c0001t0002g0062 others(10): Show a0001c0001t0001g0036 a0001c0001t0001g0074 a0001c0001t0002g0062 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0006g0010 a0001c0001t0022g0032 a0001c0001t0023g0072 a0001c0001t0034g0018 a0001c0003t0008g0039 a0001c0003t0008g0069 a0001c0007t0006g0027 a0002c0002t0001g0057	13	76	0.1711	8	c.742 others(27): Show c.742+31270_742+31277dupGTATGTAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70768877	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01433.hp1 HG01433.hp2 others(8): Show HG00280.hp2 HG01433.hp1 HG01433.hp2 HG02615.hp2 HG02622.hp1 HG03041.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0010 a0001c0001 a0002c0002 a0002c0010	a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 others(6): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0025 a0002c0002t0001 a0002c0002t0026 a0002c0010t0033	a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0073 others(8): Show a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0073 a0001c0001t0007g0055 a0001c0001t0016g0002 a0001c0001t0018g0003 a0001c0001t0021g0060 a0001c0001t0025g0050 a0002c0002t0001g0057 a0002c0002t0026g0011 a0002c0010t0033g0014	11	76	0.1447	8	c.173 others(25): Show c.1734+818_1734+825dupTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33868359	T T	TAAACAAA others(1): Show TAAACAAAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(18): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG01943.hp1 HG02015.hp1 HG02132.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18943.hp1 NA18953.hp2 NA18980.hp1 NA18981.hp2 NA18986.hp2 NA18987.hp2 NA18992.hp2 NA18993.hp1 NA19007.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0006c0006 a0008c0009 a0001c0001 a0006c0006 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0006c0006t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0006c0006t0002 a0008c0009t0002	a0001c0001t0001g0047 a0001c0001t0001g0235 a0001c0001t0002g0043 others(18): Show a0001c0001t0001g0047 a0001c0001t0001g0235 a0001c0001t0002g0043 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0108 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0244 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0006c0006t0002g0061 a0006c0006t0002g0063 a0006c0006t0002g0234 a0008c0009t0002g0021	21	266	0.0790	8	c.613 others(23): Show c.613-512_613-505dupGTTTGTTT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	4/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33917351	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01192.hp2 HG01515.hp2 others(24): Show HG01069.hp2 HG01192.hp2 HG01515.hp2 HG01891.hp1 HG02083.hp1 HG02109.hp1 HG02257.hp2 HG02451.hp1 HG02559.hp1 HG02602.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 NA18969.hp1 NA18986.hp2 NA20300.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0006c0006	a0001c0001t0001 a0001c0001t0006 a0003c0003t0003 others(2): Show a0001c0001t0001 a0001c0001t0006 a0003c0003t0003 a0004c0004t0001 a0006c0006t0002	a0001c0001t0001g0089 a0001c0001t0001g0125 a0001c0001t0001g0130 others(24): Show a0001c0001t0001g0089 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0259 a0001c0001t0006g0030 a0001c0001t0006g0123 a0001c0001t0006g0126 a0001c0001t0006g0197 a0003c0003t0003g0001 a0003c0003t0003g0008 a0003c0003t0003g0013 a0003c0003t0003g0014 a0004c0004t0001g0018 a0004c0004t0001g0019 a0006c0006t0002g0061	27	266	0.1015	8	c.446 others(27): Show c.446-41364_446-41357dupACACACAC	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33932834	C C	CAAATAAA others(1): Show CAAATAAAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp2 HG02015.hp2 others(10): Show HG01081.hp1 HG01884.hp2 HG02015.hp2 HG02257.hp2 HG02280.hp2 HG03041.hp2 HG03130.hp2 HG03710.hp2 HG06807.hp1 NA19011.hp1 NA19043.hp1 NA19082.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0031 a0001c0001t0001g0045 a0001c0001t0001g0096 others(10): Show a0001c0001t0001g0031 a0001c0001t0001g0045 a0001c0001t0001g0096 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0254 a0001c0001t0002g0227 a0001c0001t0006g0030 a0001c0001t0006g0123 a0002c0002t0001g0239	13	266	0.0489	8	c.446 others(27): Show c.446-56840_446-56839insATTTATTT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33932838	C C	CAAACAAA others(1): Show CAAACAAAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02723.hp1 HG03130.hp1 HG01255.hp1 HG02723.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0196 a0001c0001t0001g0213 a0001c0001t0001g0214	3	266	0.0113	8	c.446 others(27): Show c.446-56844_446-56843insATTTGTTT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33932838	C C	CAAATAAA others(1): Show CAAATAAAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01346.hp1 HG01496.hp1 others(16): Show HG01081.hp2 HG01346.hp1 HG01496.hp1 HG01884.hp1 HG02280.hp1 HG02559.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02897.hp2 HG02922.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp2 NA19030.hp1 NA19240.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0005 a0001c0001 a0002c0002 a0007c0005	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0007c0005t0007	a0001c0001t0001g0132 a0001c0001t0001g0162 a0001c0001t0001g0191 others(16): Show a0001c0001t0001g0132 a0001c0001t0001g0162 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0004g0143 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0192 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0002c0002t0001g0161 a0007c0005t0007g0266	19	266	0.0714	8	c.446 others(27): Show c.446-56851_446-56844dupATTTATTT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	C C	CACACACA others(1): Show CACACACAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03942.hp1 NA19068.hp1 HG01257.hp2 HG03942.hp1 NA19068.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0007 a0002c0002 a0005c0007	a0002c0002t0001 a0005c0007t0003 a0002c0002t0001 a0005c0007t0003	a0002c0002t0001g0105 a0005c0007t0003g0006 a0005c0007t0003g0010 a0002c0002t0001g0105 a0005c0007t0003g0006 a0005c0007t0003g0010	3	266	0.0113	8	c.446 others(27): Show c.446-57530_446-57529insCTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar

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