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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
ATPAF2_chr17_18013021_18044168	18017171	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG02559.hp2 HG02809.hp2 others(2): Show HG01070.hp1 HG02559.hp2 HG02809.hp2 HG02897.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0201 a0001c0001t0001g0229 a0001c0001t0001g0007 a0001c0001t0001g0201 a0001c0001t0001g0229	5	328	0.0152	-16	c.13 others(27): Show c.1362_*1377delTTTTTTTTTTTTTTTT	ATPAF2	ENSG00000171953.16	transcript	ENST00000474627.8	protein_coding		849		chr17	TogoVar
ATRIP_chr3_48441737_48472645	48471640	CGGTGGCT others(9): Show CGGTGGCTCACACCTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18946.hp2 NA18968.hp1 others(6): Show NA18943.hp2 NA18946.hp2 NA18968.hp1 NA18999.hp2 NA19001.hp1 NA19003.hp2 NA19009.hp1 NA19077.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0096	9	360	0.0250	-16	c.60 others(27): Show c.6087_*6102delGGTGGCTCACACCTGT	ATRIP	ENSG00000164053.22	transcript	ENST00000320211.10	protein_coding		3996		chr3	TogoVar
ATRNL1_chr10_115088365_115953999	115230870	TGAGAGAG others(9): Show TGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03195.hp1 HG02970.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0006 a0001c0001t0014 a0001c0002t0006	a0001c0001t0014g0001 a0001c0002t0006g0062 a0001c0001t0014g0001 a0001c0002t0006g0062	2	128	0.0156	-16	c.153 others(37): Show c.1533-10664_1533-10649delGAGAGAGAGAGAGAGA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115243055	ATGAAAGT others(9): Show ATGAAAGTTTTGTTTGT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0013	a0001c0006t0013g0029 a0001c0006t0013g0029	1	128	0.0078	-16	c.168 others(35): Show c.1687+1332_1687+1347delGAAAGTTTTGTTTGTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	10/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115389540	GTATATAT others(9): Show GTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp1 HG01361.hp1 others(2): Show HG00741.hp1 HG01071.hp1 HG01361.hp1 HG01515.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0003t0041 a0001c0002t0005 a0001c0003t0041	a0001c0002t0005g0037 a0001c0002t0005g0044 a0001c0002t0005g0053 others(2): Show a0001c0002t0005g0037 a0001c0002t0005g0044 a0001c0002t0005g0053 a0001c0002t0005g0057 a0001c0003t0041g0047	5	128	0.0391	-16	c.317 others(35): Show c.3176-5083_3176-5068delATATATATATATATAT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115389576	ATATATAT others(9): Show ATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0030 a0001c0007t0030	a0001c0007t0030g0008 a0001c0007t0030g0008	1	128	0.0078	-16	c.317 others(35): Show c.3176-5081_3176-5066delATATATATATATATTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115407985	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01258.hp1 HG01515.hp2 others(11): Show HG01071.hp2 HG01258.hp1 HG01515.hp2 HG01943.hp1 HG02055.hp2 HG02132.hp1 HG02135.hp2 HG02523.hp2 HG02723.hp1 HG03239.hp2 HG03834.hp2 HG06807.hp2 NA18959.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0013 a0002c0008 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0029 a0001c0002t0028 a0001c0003t0002 a0001c0006t0009 a0001c0013t0009 a0002c0008t0011 a0002c0014t0009	a0001c0001t0001g0120 a0001c0001t0002g0077 a0001c0001t0002g0080 others(11): Show a0001c0001t0001g0120 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0123 a0001c0001t0008g0079 a0001c0001t0008g0082 a0001c0001t0009g0122 a0001c0001t0029g0075 a0001c0002t0028g0076 a0001c0003t0002g0081 a0001c0006t0009g0038 a0001c0013t0009g0078 a0002c0008t0011g0073 a0002c0014t0009g0072	14	128	0.1094	-16	c.326 others(37): Show c.3269+13247_3269+13262delTTTTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	20/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115533399	TGTAGTAT others(9): Show TGTAGTATTCTCTGATG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG03471.hp2 others(1): Show HG02055.hp1 HG02622.hp1 HG03471.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0010 a0001c0001t0022 a0001c0006t0033 a0001c0001t0010 a0001c0001t0022 a0001c0006t0033	a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0022g0032 others(1): Show a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0022g0032 a0001c0006t0033g0035	4	128	0.0313	-16	c.371 others(37): Show c.3716+14081_3716+14096delATTCTCTGATGGTAGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	25/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115740839	CACACACA others(9): Show CACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG00741.hp2 others(52): Show HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01258.hp2 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02258.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02717.hp2 HG02895.hp2 HG02970.hp2 HG02976.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp2 HG03540.hp1 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18995.hp2 NA19003.hp1 NA19011.hp2 NA19030.hp1 NA19070.hp2 NA19240.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0016 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0029 a0001c0001t0046 a0001c0001t0048 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0014 a0001c0003t0031 a0001c0003t0037 a0001c0003t0039 a0001c0003t0041 a0001c0009t0005 a0001c0016t0003 a0002c0014t0009	a0001c0001t0001g0036 a0001c0001t0001g0055 a0001c0001t0001g0065 others(52): Show a0001c0001t0001g0036 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0002g0017 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0123 a0001c0001t0003g0066 a0001c0001t0003g0074 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0104 a0001c0001t0006g0100 a0001c0001t0008g0082 a0001c0001t0009g0122 a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0011g0119 a0001c0001t0014g0001 a0001c0001t0015g0064 a0001c0001t0016g0031 a0001c0001t0029g0075 a0001c0001t0046g0099 a0001c0001t0048g0107 a0001c0002t0001g0041 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0005g0037 a0001c0002t0006g0062 a0001c0003t0001g0083 a0001c0003t0002g0081 a0001c0003t0003g0049 a0001c0003t0004g0042 a0001c0003t0014g0089 a0001c0003t0031g0016 a0001c0003t0037g0121 a0001c0003t0039g0126 a0001c0003t0041g0047 a0001c0009t0005g0059 a0001c0016t0003g0097 a0002c0014t0009g0072	55	128	0.4297	-16	c.390 others(37): Show c.3903+13496_3903+13511delCACAAACACACACACA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115837466	CCACACAC others(9): Show CCACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01943.hp2 HG02135.hp1 others(9): Show HG00639.hp1 HG01943.hp2 HG02135.hp1 HG02135.hp2 HG02523.hp1 HG02615.hp2 HG03579.hp2 HG04115.hp1 NA18906.hp1 NA19003.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0012 a0001c0001 a0001c0003 a0001c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0016 a0001c0001t0029 a0001c0001t0046 a0001c0003t0015 a0001c0003t0031 a0001c0012t0001	a0001c0001t0001g0068 a0001c0001t0001g0096 a0001c0001t0003g0074 others(9): Show a0001c0001t0001g0068 a0001c0001t0001g0096 a0001c0001t0003g0074 a0001c0001t0003g0104 a0001c0001t0006g0100 a0001c0001t0009g0122 a0001c0001t0016g0031 a0001c0001t0029g0075 a0001c0001t0046g0099 a0001c0003t0015g0108 a0001c0003t0031g0016 a0001c0012t0001g0071	12	128	0.0938	-16	c.390 others(37): Show c.3904-10365_3904-10350delACACACACACACACAC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3485610	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0007 a0003c0018t0007	a0003c0018t0007g0200 a0003c0018t0007g0200	1	220	0.0046	-16	c.410 others(35): Show c.410+14107_410+14122delTTTTTTTTTTTTTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3630916	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0135 a0001c0002t0003g0135	1	220	0.0046	-16	c.386 others(35): Show c.3864-3362_3864-3347delTTTTTTTTTTTTTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	25/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77556211	AAGGGAGA others(9): Show AAGGGAGAGAGGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01256.hp1 HG01496.hp1 others(8): Show HG00597.hp1 HG01256.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG03540.hp1 HG04228.hp1 NA18986.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0002 a0001c0001t0020 a0002c0002t0001 others(4): Show a0001c0001t0002 a0001c0001t0020 a0002c0002t0001 a0002c0002t0002 a0002c0002t0016 a0002c0004t0001 a0002c0004t0003	a0001c0001t0002g0215 a0001c0001t0020g0180 a0002c0002t0001g0045 others(8): Show a0001c0001t0002g0215 a0001c0001t0020g0180 a0002c0002t0001g0045 a0002c0002t0001g0049 a0002c0002t0002g0037 a0002c0002t0016g0046 a0002c0004t0001g0009 a0002c0004t0001g0023 a0002c0004t0001g0031 a0002c0004t0001g0055 a0002c0004t0003g0030	11	218	0.0505	-16	c.669 others(35): Show c.6699+1224_6699+1239delCTCTCCCTCTCTCCCT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	30/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77585583	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp1 NA20129.hp2 HG02145.hp1 HG02451.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0006 a0001c0001t0008 a0002c0002t0006	a0001c0001t0008g0005 a0001c0001t0008g0006 a0002c0002t0006g0207 a0001c0001t0008g0005 a0001c0001t0008g0006 a0002c0002t0006g0207	3	218	0.0138	-16	c.621 others(35): Show c.6217+4235_6217+4250delTTTTTTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77621871	AAAAACTA others(9): Show AAAAACTAATATTTTGT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp1 HG02280.hp1 others(7): Show HG01109.hp1 HG02257.hp1 HG02280.hp1 HG02602.hp1 HG02723.hp2 HG02965.hp1 HG03239.hp2 HG03579.hp1 HG04184.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0005c0009t0010	a0001c0001t0001g0087 a0001c0001t0003g0084 a0001c0001t0003g0085 others(7): Show a0001c0001t0001g0087 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0088 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0010g0083 a0001c0001t0011g0001 a0005c0009t0010g0086	10	218	0.0459	-16	c.513 others(35): Show c.5135-1355_5135-1340delACAAAATATTAGTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	19/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77626028	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02273.hp1 HG02486.hp1 others(3): Show HG01099.hp1 HG02273.hp1 HG02486.hp1 HG03942.hp1 NA18522.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0009 a0001c0003t0001 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0003t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0002g0170 a0001c0001t0009g0004 a0001c0003t0001g0152 others(3): Show a0001c0001t0002g0170 a0001c0001t0009g0004 a0001c0003t0001g0152 a0001c0003t0001g0167 a0002c0002t0001g0022 a0002c0002t0003g0177	6	218	0.0275	-16	c.513 others(35): Show c.5135-5512_5135-5497delATATATATATATATAT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	19/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	218	0.0046	-16	c.380 others(35): Show c.3809+5043_3809+5058delATATATATATATATAT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77692846	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA20129.hp2 HG02451.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0005 a0001c0001t0008g0006 a0001c0001t0008g0005 a0001c0001t0008g0006	2	218	0.0092	-16	c.484 others(31): Show c.484+962_484+977delACACACACACACACAC	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	6/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77767236	GGAGAGGG others(9): Show GGAGAGGGAGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	1	218	0.0046	-16	c.20+ others(33): Show c.20+18730_20+18745delTCCCTCTCTCCCTCTC	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34			chrX	TogoVar
ATR_chr3_142444235_142583733	142472085	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0191 a0003c0003t0001g0191	1	322	0.0031	-16	c.622 others(35): Show c.6222-1918_6222-1903delCACACACACACACACA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	36/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142496278	CTATATAT others(9): Show CTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp2 HG02735.hp1 others(1): Show HG00741.hp2 HG01261.hp2 HG02735.hp1 HG03017.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0002 a0002c0007t0001g0219 a0002c0007t0001g0227 a0002c0007t0001g0002 a0002c0007t0001g0219 a0002c0007t0001g0227	4	322	0.0124	-16	c.589 others(31): Show c.5898+67_5898+82delTATATATATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142571465	CAATAAAT others(9): Show CAATAAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0272 a0005c0011t0001g0272	1	322	0.0031	-16	c.60- others(31): Show c.60-3327_60-3312delTATTTATTTATTTATT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	1/46			chr3	TogoVar
ATXN10_chr22_45666834_45850307	45751739	GGAAAAAA others(9): Show GGAAAAAAAAAAAAAAT	G G	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp2 NA19062.hp1 NA18982.hp1 NA18982.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0253 a0001c0001t0007g0204 a0001c0001t0007g0205 a0001c0001t0001g0253 a0001c0001t0007g0204 a0001c0001t0007g0205	3	316	0.0095	-16	c.117 others(37): Show c.1173+11202_1173+11217delGAAAAAAAAAAAAAAT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11			chr22	TogoVar
ATXN10_chr22_45666834_45850307	45753377	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03239.hp1 NA18961.hp1 others(10): Show HG00140.hp2 HG03239.hp1 NA18961.hp1 NA18964.hp1 NA18967.hp1 NA18975.hp2 NA18978.hp1 NA18988.hp1 NA18998.hp2 NA19058.hp1 NA19068.hp2 NA19090.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0058 a0001c0001t0001g0114 a0001c0001t0002g0045 others(10): Show a0001c0001t0001g0058 a0001c0001t0001g0114 a0001c0001t0002g0045 a0001c0001t0002g0089 a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0120	13	316	0.0411	-16	c.117 others(37): Show c.1173+12872_1173+12887delTTTTTTTTTTTTTTTT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16296660	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG02615.hp2 others(5): Show HG02280.hp1 HG02486.hp1 HG02615.hp2 HG02965.hp2 HG02970.hp2 HG03225.hp1 HG06807.hp1 NA18906.hp2	a0005 a0009 a0010 a0005 a0009 a0010	a0005c0006 a0005c0060 a0009c0025 others(1): Show a0005c0006 a0005c0060 a0009c0025 a0010c0010	a0005c0006t0006 a0005c0060t0006 a0009c0025t0031 others(1): Show a0005c0006t0006 a0005c0060t0006 a0009c0025t0031 a0010c0010t0006	a0005c0006t0006g0010 a0005c0060t0006g0132 a0009c0025t0031g0058 others(5): Show a0005c0006t0006g0010 a0005c0060t0006g0132 a0009c0025t0031g0058 a0010c0010t0006g0008 a0010c0010t0006g0014 a0010c0010t0006g0052 a0010c0010t0006g0112 a0010c0010t0006g0113	8	182	0.0440	-16	c.96 others(27): Show c.9653_*9668delAAAAAAAAAAAAAAAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding		2451		chr6	TogoVar
ATXN1_chr6_16294112_16766460	16308322	TCACACAC others(9): Show TCACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02602.hp2 HG03453.hp1 others(4): Show HG01255.hp1 HG02602.hp2 HG03453.hp1 HG03492.hp2 HG03688.hp2 HG04199.hp1 homoSapiens_chm13v2.hp1	a0002 a0007 a0009 others(2): Show a0002 a0007 a0009 a0016 a0017	a0002c0002 a0007c0009 a0009c0016 others(2): Show a0002c0002 a0007c0009 a0009c0016 a0016c0014 a0017c0040	a0002c0002t0007 a0007c0009t0035 a0009c0016t0007 others(4): Show a0002c0002t0007 a0007c0009t0035 a0009c0016t0007 a0009c0016t0028 a0016c0014t0007 a0016c0014t0027 a0017c0040t0007	a0002c0002t0007g0136 a0007c0009t0035g0018 a0009c0016t0007g0151 others(4): Show a0002c0002t0007g0136 a0007c0009t0035g0018 a0009c0016t0007g0151 a0009c0016t0028g0141 a0016c0014t0007g0155 a0016c0014t0027g0134 a0017c0040t0007g0022	7	182	0.0385	-16	c.191 others(35): Show c.1918-1479_1918-1464delTGTGTGTGTGTGTGTG	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16368343	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01255.hp2 HG01261.hp2 others(25): Show HG00642.hp1 HG01255.hp2 HG01261.hp2 HG01884.hp2 HG02055.hp1 HG02257.hp1 HG02451.hp1 HG02615.hp1 HG02630.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG06807.hp1 NA18906.hp1 NA19030.hp1 NA19240.hp1 NA20300.hp2	a0002 a0003 a0005 others(8): Show a0002 a0003 a0005 a0006 a0007 a0009 a0016 a0022 a0024 a0032 a0034	a0002c0002 a0003c0003 a0005c0006 others(10): Show a0002c0002 a0003c0003 a0005c0006 a0005c0060 a0006c0008 a0006c0043 a0007c0009 a0009c0025 a0016c0014 a0022c0019 a0024c0018 a0032c0045 a0034c0047	a0002c0002t0001 a0003c0003t0009 a0005c0006t0003 others(17): Show a0002c0002t0001 a0003c0003t0009 a0005c0006t0003 a0005c0006t0006 a0005c0006t0009 a0005c0060t0006 a0006c0008t0002 a0006c0008t0046 a0006c0043t0010 a0007c0009t0002 a0007c0009t0035 a0007c0009t0049 a0009c0025t0031 a0009c0025t0033 a0016c0014t0012 a0022c0019t0001 a0024c0018t0001 a0024c0018t0012 a0032c0045t0018 a0034c0047t0002	a0002c0002t0001g0071 a0003c0003t0009g0055 a0005c0006t0003g0006 others(25): Show a0002c0002t0001g0071 a0003c0003t0009g0055 a0005c0006t0003g0006 a0005c0006t0003g0051 a0005c0006t0003g0057 a0005c0006t0003g0070 a0005c0006t0003g0114 a0005c0006t0003g0166 a0005c0006t0006g0010 a0005c0006t0009g0163 a0005c0060t0006g0132 a0006c0008t0002g0137 a0006c0008t0046g0062 a0006c0043t0010g0128 a0007c0009t0002g0028 a0007c0009t0002g0056 a0007c0009t0002g0126 a0007c0009t0035g0018 a0007c0009t0049g0005 a0009c0025t0031g0058 a0009c0025t0033g0165 a0016c0014t0012g0135 a0022c0019t0001g0025 a0022c0019t0001g0127 a0024c0018t0001g0009 a0024c0018t0012g0148 a0032c0045t0018g0059 a0034c0047t0002g0029	28	182	0.1539	-16	c.-16 others(37): Show c.-160-39889_-160-39874delAAAAAAAAAAAAAAAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16454125	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0177 a0004c0005t0002g0177	1	182	0.0055	-16	c.-16 others(37): Show c.-161+31831_-161+31846delTTTTTTTTTTTTTTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16466317	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp2 others(86): Show HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG01074.hp1 HG01081.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01978.hp2 HG02055.hp1 HG02056.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02886.hp2 HG02896.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18747.hp1 NA18906.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp2 NA19007.hp2 NA19009.hp1 NA19030.hp2 NA19062.hp2 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(21): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0017 a0020 a0023 a0024 a0026 a0027 a0031 a0033 a0034	a0001c0001 a0001c0027 a0001c0029 others(33): Show a0001c0001 a0001c0027 a0001c0029 a0002c0002 a0002c0004 a0003c0003 a0003c0050 a0003c0051 a0004c0005 a0004c0015 a0004c0023 a0004c0031 a0005c0006 a0006c0008 a0007c0009 a0008c0012 a0008c0024 a0009c0016 a0009c0025 a0009c0042 a0010c0010 a0011c0007 a0012c0011 a0013c0013 a0014c0017 a0016c0014 a0017c0022 a0017c0040 a0020c0020 a0023c0034 a0024c0018 a0026c0061 a0027c0049 a0031c0048 a0033c0044 a0034c0047	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(55): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0029 a0001c0027t0001 a0001c0029t0039 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0041 a0002c0002t0043 a0002c0004t0001 a0002c0004t0017 a0003c0003t0001 a0003c0003t0002 a0003c0003t0021 a0003c0003t0037 a0003c0050t0045 a0003c0051t0010 a0004c0005t0002 a0004c0015t0001 a0004c0023t0002 a0004c0023t0009 a0004c0031t0002 a0005c0006t0003 a0005c0006t0006 a0006c0008t0002 a0006c0008t0046 a0007c0009t0002 a0008c0012t0005 a0008c0024t0001 a0009c0016t0001 a0009c0016t0007 a0009c0016t0028 a0009c0025t0033 a0009c0042t0011 a0010c0010t0006 a0011c0007t0002 a0011c0007t0003 a0012c0011t0004 a0013c0013t0005 a0014c0017t0004 a0014c0017t0025 a0016c0014t0007 a0016c0014t0012 a0016c0014t0027 a0017c0022t0001 a0017c0040t0007 a0020c0020t0026 a0020c0020t0032 a0023c0034t0002 a0024c0018t0001 a0026c0061t0036 a0027c0049t0003 a0031c0048t0042 a0033c0044t0024 a0034c0047t0002	a0001c0001t0001g0105 a0001c0001t0001g0123 a0001c0001t0001g0159 others(86): Show a0001c0001t0001g0105 a0001c0001t0001g0123 a0001c0001t0001g0159 a0001c0001t0002g0020 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0129 a0001c0001t0011g0131 a0001c0001t0029g0145 a0001c0027t0001g0107 a0001c0029t0039g0041 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0003g0007 a0002c0002t0003g0133 a0002c0002t0007g0136 a0002c0002t0008g0063 a0002c0002t0008g0116 a0002c0002t0008g0140 a0002c0002t0041g0079 a0002c0002t0043g0175 a0002c0004t0001g0046 a0002c0004t0001g0073 a0002c0004t0001g0080 a0002c0004t0001g0084 a0002c0004t0001g0093 a0002c0004t0017g0121 a0002c0004t0017g0179 a0003c0003t0001g0049 a0003c0003t0001g0130 a0003c0003t0002g0120 a0003c0003t0021g0003 a0003c0003t0037g0150 a0003c0050t0045g0147 a0003c0051t0010g0173 a0004c0005t0002g0072 a0004c0005t0002g0075 a0004c0005t0002g0096 a0004c0005t0002g0122 a0004c0005t0002g0160 a0004c0005t0002g0167 a0004c0005t0002g0177 a0004c0015t0001g0152 a0004c0015t0001g0157 a0004c0015t0001g0176 a0004c0023t0002g0035 a0004c0023t0009g0110 a0004c0031t0002g0101 a0005c0006t0003g0166 a0005c0006t0006g0010 a0006c0008t0002g0013 a0006c0008t0046g0062 a0007c0009t0002g0028 a0008c0012t0005g0078 a0008c0012t0005g0091 a0008c0012t0005g0168 a0008c0024t0001g0074 a0009c0016t0001g0034 a0009c0016t0007g0151 a0009c0016t0028g0141 a0009c0025t0033g0165 a0009c0042t0011g0047 a0010c0010t0006g0014 a0010c0010t0006g0112 a0010c0010t0006g0113 a0011c0007t0002g0097 a0011c0007t0002g0169 a0011c0007t0002g0172 a0011c0007t0003g0066 a0012c0011t0004g0050 a0013c0013t0005g0036 a0013c0013t0005g0100 a0014c0017t0004g0171 a0014c0017t0025g0142 a0016c0014t0007g0155 a0016c0014t0012g0135 a0016c0014t0027g0134 a0017c0022t0001g0104 a0017c0022t0001g0146 a0017c0040t0007g0022 a0020c0020t0026g0088 a0020c0020t0032g0099 a0023c0034t0002g0124 a0024c0018t0001g0009 a0026c0061t0036g0095 a0027c0049t0003g0149 a0031c0048t0042g0026 a0033c0044t0024g0048 a0034c0047t0002g0029	89	182	0.4890	-16	c.-16 others(37): Show c.-161+19639_-161+19654delTTTTTTTTTTTTTTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16663646	TTTTATTT others(9): Show TTTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(141): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18973.hp1 NA18973.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(35): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038	a0001c0001 a0001c0027 a0001c0028 others(55): Show a0001c0001 a0001c0027 a0001c0028 a0001c0029 a0001c0052 a0002c0002 a0002c0004 a0003c0003 a0003c0050 a0003c0051 a0004c0005 a0004c0015 a0004c0023 a0004c0031 a0005c0006 a0005c0060 a0006c0008 a0006c0046 a0007c0009 a0007c0059 a0008c0012 a0008c0024 a0009c0016 a0009c0025 a0009c0042 a0010c0010 a0010c0039 a0011c0007 a0012c0011 a0013c0013 a0013c0038 a0014c0017 a0015c0030 a0015c0055 a0016c0014 a0017c0022 a0018c0054 a0018c0056 a0019c0026 a0020c0020 a0021c0021 a0022c0019 a0023c0034 a0024c0018 a0025c0062 a0026c0061 a0027c0049 a0028c0053 a0029c0057 a0030c0058 a0031c0048 a0032c0045 a0033c0044 a0034c0047 a0035c0036 a0036c0037 a0037c0032 a0038c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(92): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0001t0044 a0001c0027t0001 a0001c0028t0015 a0001c0029t0039 a0001c0029t0048 a0001c0052t0047 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0009 a0002c0002t0041 a0002c0002t0043 a0002c0004t0001 a0002c0004t0017 a0003c0003t0001 a0003c0003t0002 a0003c0003t0009 a0003c0003t0013 a0003c0003t0021 a0003c0003t0022 a0003c0050t0045 a0003c0051t0010 a0004c0005t0002 a0004c0005t0008 a0004c0015t0001 a0004c0023t0002 a0004c0031t0002 a0005c0006t0003 a0005c0006t0006 a0005c0006t0009 a0005c0060t0006 a0006c0008t0002 a0006c0008t0010 a0006c0008t0011 a0006c0008t0040 a0006c0008t0046 a0006c0046t0001 a0007c0009t0002 a0007c0009t0035 a0007c0009t0049 a0007c0059t0012 a0008c0012t0005 a0008c0024t0001 a0009c0016t0007 a0009c0025t0031 a0009c0025t0033 a0009c0042t0011 a0010c0010t0006 a0010c0039t0001 a0011c0007t0002 a0012c0011t0004 a0012c0011t0023 a0013c0013t0005 a0013c0038t0034 a0014c0017t0004 a0014c0017t0025 a0015c0030t0004 a0015c0030t0014 a0015c0055t0004 a0016c0014t0007 a0016c0014t0012 a0017c0022t0001 a0018c0054t0001 a0018c0056t0007 a0019c0026t0001 a0019c0026t0019 a0020c0020t0026 a0020c0020t0032 a0021c0021t0004 a0022c0019t0001 a0023c0034t0002 a0024c0018t0001 a0024c0018t0012 a0025c0062t0038 a0026c0061t0036 a0027c0049t0003 a0028c0053t0004 a0029c0057t0001 a0030c0058t0018 a0031c0048t0042 a0032c0045t0018 a0033c0044t0024 a0034c0047t0002 a0035c0036t0007 a0036c0037t0001 a0037c0032t0002 a0038c0033t0002	a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0083 others(141): Show a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0083 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0123 a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0002g0020 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0129 a0001c0001t0005g0085 a0001c0001t0011g0131 a0001c0001t0020g0002 a0001c0001t0029g0145 a0001c0001t0030g0021 a0001c0001t0044g0118 a0001c0027t0001g0024 a0001c0027t0001g0107 a0001c0028t0015g0017 a0001c0028t0015g0125 a0001c0029t0039g0041 a0001c0029t0048g0031 a0001c0052t0047g0060 a0002c0002t0001g0071 a0002c0002t0002g0090 a0002c0002t0003g0007 a0002c0002t0003g0061 a0002c0002t0003g0133 a0002c0002t0008g0063 a0002c0002t0008g0081 a0002c0002t0008g0138 a0002c0002t0008g0140 a0002c0002t0009g0094 a0002c0002t0041g0079 a0002c0002t0043g0175 a0002c0004t0001g0073 a0002c0004t0001g0080 a0002c0004t0001g0084 a0002c0004t0001g0174 a0002c0004t0001g0182 a0002c0004t0017g0121 a0002c0004t0017g0179 a0003c0003t0001g0042 a0003c0003t0001g0109 a0003c0003t0001g0180 a0003c0003t0002g0120 a0003c0003t0009g0055 a0003c0003t0013g0027 a0003c0003t0021g0003 a0003c0003t0022g0119 a0003c0050t0045g0147 a0003c0051t0010g0173 a0004c0005t0002g0072 a0004c0005t0002g0075 a0004c0005t0002g0096 a0004c0005t0002g0160 a0004c0005t0002g0167 a0004c0005t0002g0177 a0004c0005t0008g0068 a0004c0015t0001g0152 a0004c0015t0001g0157 a0004c0015t0001g0176 a0004c0023t0002g0035 a0004c0031t0002g0101 a0005c0006t0003g0006 a0005c0006t0003g0051 a0005c0006t0003g0057 a0005c0006t0003g0070 a0005c0006t0003g0114 a0005c0006t0003g0166 a0005c0006t0006g0010 a0005c0006t0009g0163 a0005c0060t0006g0132 a0006c0008t0002g0013 a0006c0008t0002g0137 a0006c0008t0010g0038 a0006c0008t0011g0053 a0006c0008t0040g0154 a0006c0008t0046g0062 a0006c0046t0001g0012 a0007c0009t0002g0028 a0007c0009t0002g0056 a0007c0009t0002g0164 a0007c0009t0035g0018 a0007c0009t0049g0005 a0007c0059t0012g0030 a0008c0012t0005g0078 a0008c0012t0005g0092 a0008c0024t0001g0074 a0008c0024t0001g0143 a0009c0016t0007g0151 a0009c0025t0031g0058 a0009c0025t0033g0165 a0009c0042t0011g0047 a0010c0010t0006g0008 a0010c0010t0006g0052 a0010c0010t0006g0112 a0010c0010t0006g0113 a0010c0039t0001g0181 a0011c0007t0002g0040 a0011c0007t0002g0097 a0011c0007t0002g0162 a0011c0007t0002g0169 a0011c0007t0002g0172 a0012c0011t0004g0144 a0012c0011t0023g0023 a0013c0013t0005g0036 a0013c0038t0034g0139 a0014c0017t0004g0171 a0014c0017t0025g0142 a0015c0030t0004g0032 a0015c0030t0014g0102 a0015c0055t0004g0067 a0016c0014t0007g0155 a0016c0014t0012g0135 a0017c0022t0001g0104 a0018c0054t0001g0115 a0018c0056t0007g0011 a0019c0026t0001g0098 a0019c0026t0019g0001 a0020c0020t0026g0088 a0020c0020t0032g0099 a0021c0021t0004g0069 a0022c0019t0001g0025 a0022c0019t0001g0127 a0023c0034t0002g0124 a0024c0018t0001g0009 a0024c0018t0012g0148 a0025c0062t0038g0087 a0026c0061t0036g0095 a0027c0049t0003g0149 a0028c0053t0004g0065 a0029c0057t0001g0016 a0030c0058t0018g0054 a0031c0048t0042g0026 a0032c0045t0018g0059 a0033c0044t0024g0048 a0034c0047t0002g0029 a0035c0036t0007g0019 a0036c0037t0001g0117 a0037c0032t0002g0170 a0038c0033t0002g0004	144	182	0.7912	-16	c.-61 others(35): Show c.-614-5761_-614-5746delTAAATAAATAAATAAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16695092	CACCATGG others(9): Show CACCATGGCTCTTGGGG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp2 HG02451.hp2 HG02622.hp2	a0001 a0031 a0001 a0031	a0001c0029 a0031c0048 a0001c0029 a0031c0048	a0001c0029t0048 a0031c0048t0042 a0001c0029t0048 a0031c0048t0042	a0001c0029t0048g0031 a0031c0048t0042g0026 a0001c0029t0048g0031 a0031c0048t0042g0026	2	182	0.0110	-16	c.-61 others(37): Show c.-614-37207_-614-37192delCCCCAAGAGCCATGGT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16731454	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp1 HG01168.hp1 others(41): Show HG00423.hp1 HG00642.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG02132.hp2 HG02135.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp2 HG02698.hp2 HG02723.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 NA18906.hp1 NA18906.hp2 NA18955.hp2 NA18960.hp1 NA18972.hp1 NA18973.hp2 NA19007.hp1 NA19009.hp2 NA19030.hp1 NA19060.hp1 NA19240.hp1 NA20752.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0016 a0018 a0020 a0021 a0022 a0025	a0001c0001 a0001c0027 a0001c0028 others(23): Show a0001c0001 a0001c0027 a0001c0028 a0001c0029 a0002c0002 a0002c0004 a0003c0003 a0003c0051 a0004c0015 a0004c0023 a0005c0006 a0006c0008 a0006c0046 a0007c0009 a0007c0059 a0009c0025 a0010c0010 a0011c0007 a0012c0011 a0013c0013 a0016c0014 a0018c0054 a0020c0020 a0021c0021 a0022c0019 a0025c0062	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0020 a0001c0027t0001 a0001c0028t0015 a0001c0029t0048 a0002c0002t0002 a0002c0002t0016 a0002c0004t0001 a0003c0003t0009 a0003c0051t0010 a0004c0015t0001 a0004c0023t0009 a0005c0006t0003 a0005c0006t0006 a0005c0006t0009 a0006c0008t0010 a0006c0008t0046 a0006c0046t0001 a0007c0009t0002 a0007c0009t0049 a0007c0059t0012 a0009c0025t0033 a0010c0010t0006 a0011c0007t0002 a0012c0011t0004 a0013c0013t0005 a0013c0013t0016 a0016c0014t0012 a0018c0054t0001 a0020c0020t0032 a0021c0021t0014 a0022c0019t0001 a0025c0062t0038	a0001c0001t0001g0083 a0001c0001t0001g0103 a0001c0001t0001g0108 others(41): Show a0001c0001t0001g0083 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0005g0085 a0001c0001t0020g0002 a0001c0027t0001g0024 a0001c0028t0015g0017 a0001c0029t0048g0031 a0002c0002t0002g0089 a0002c0002t0016g0111 a0002c0004t0001g0084 a0003c0003t0009g0055 a0003c0051t0010g0173 a0004c0015t0001g0152 a0004c0023t0009g0110 a0005c0006t0003g0006 a0005c0006t0003g0051 a0005c0006t0003g0057 a0005c0006t0003g0114 a0005c0006t0003g0166 a0005c0006t0006g0010 a0005c0006t0009g0163 a0006c0008t0010g0038 a0006c0008t0046g0062 a0006c0046t0001g0012 a0007c0009t0002g0056 a0007c0009t0049g0005 a0007c0059t0012g0030 a0009c0025t0033g0165 a0010c0010t0006g0052 a0010c0010t0006g0112 a0010c0010t0006g0113 a0011c0007t0002g0040 a0012c0011t0004g0086 a0013c0013t0005g0100 a0013c0013t0016g0153 a0016c0014t0012g0135 a0018c0054t0001g0115 a0020c0020t0032g0099 a0021c0021t0014g0082 a0022c0019t0001g0025 a0025c0062t0038g0087	44	182	0.2418	-16	c.-61 others(37): Show c.-615+21763_-615+21778delAAAAAAAAAAAAAAAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar
ATXN2L_chr16_28817999_28842232	28822935	GCCCCCCC others(9): Show GCCCCCCCCCCCCCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01070.hp2 HG01109.hp1 others(4): Show HG00099.hp1 HG01070.hp2 HG01109.hp1 HG01243.hp2 HG02738.hp2 HG02895.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	7	382	0.0183	-16	c.-32 others(25): Show c.-324_-309delCCCCCCCCCCCCCCCC	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding		63		chr16	TogoVar
ATXN2_chr12_111447214_111604315	111464324	GGTGTGTG others(9): Show GGTGTGTGTGTTTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19030.hp2 HG03540.hp1 NA19030.hp2	a0003 a0014 a0003 a0014	a0003c0007 a0014c0020 a0003c0007 a0014c0020	a0003c0007t0005 a0014c0020t0003 a0003c0007t0005 a0014c0020t0003	a0003c0007t0005g0116 a0014c0020t0003g0085 a0003c0007t0005g0116 a0014c0020t0003g0085	2	298	0.0067	-16	c.289 others(33): Show c.2896+322_2896+337delACACAAACACACACAC	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	21/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111483188	AACACATA others(9): Show AACACATACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02897.hp1 HG03225.hp1 HG02622.hp2 HG02897.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0003g0009 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0003g0009	3	298	0.0101	-16	c.252 others(35): Show c.2524+2061_2524+2076delGTGTGTGTGTATGTGT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	18/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111553572	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	298	0.0034	-16	c.348 others(31): Show c.348+570_348+585delTTTTTTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	3/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111571413	GTTAAGTT others(9): Show GTTAAGTTCTACAGGAA	G G	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0059	1	298	0.0034	-16	c.252 others(35): Show c.252-15510_252-15495delTTCCTGTAGAACTTAA	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111588991	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18986.hp2 homoSapiens_chm13v2.hp1 NA18986.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0275 a0001c0001t0002g0277	2	298	0.0067	-16	c.251 others(33): Show c.251+9777_251+9792delTTTTTTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN7L1_chr7_105599772_105881599	105619530	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 homoSapiens_chm13v2.hp1 HG01515.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0035 a0001c0001t0015 a0001c0001t0035	a0001c0001t0015g0140 a0001c0001t0035g0151 a0001c0001t0015g0140 a0001c0001t0035g0151	2	252	0.0079	-16	c.151 others(33): Show c.1517+654_1517+669delAAAAAAAAAAAAAAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105628792	CAAATAAA others(9): Show CAAATAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0210 a0001c0001t0056g0210	1	252	0.0040	-16	c.120 others(35): Show c.1203-4541_1203-4526delATTTATTTATTTATTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	7/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105662019	TTTCTTTC others(9): Show TTTCTTTCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01081.hp2 HG01943.hp1 others(3): Show HG01069.hp2 HG01081.hp2 HG01943.hp1 HG03239.hp2 HG04199.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0033	a0001c0001t0002g0245 a0001c0001t0004g0084 a0001c0001t0009g0013 others(3): Show a0001c0001t0002g0245 a0001c0001t0004g0084 a0001c0001t0009g0013 a0001c0001t0012g0115 a0001c0001t0016g0139 a0001c0001t0033g0040	6	252	0.0238	-16	c.578 others(33): Show c.578+3031_578+3046delGGAAGGAAAGAAAGAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105662023	TTTCTTTC others(9): Show TTTCTTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02622.hp2 others(2): Show HG02280.hp2 HG02451.hp2 HG02622.hp2 HG03139.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0021 a0001c0001t0027	a0001c0001t0001g0205 a0001c0001t0001g0222 a0001c0001t0007g0223 others(2): Show a0001c0001t0001g0205 a0001c0001t0001g0222 a0001c0001t0007g0223 a0001c0001t0021g0227 a0001c0001t0027g0008	5	252	0.0198	-16	c.578 others(33): Show c.578+3027_578+3042delGGAAGGAAGGAAAGAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105722560	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03239.hp1 NA18747.hp1 HG02135.hp1 HG03239.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0018 a0001c0001t0023 a0001c0001t0004 a0001c0001t0018 a0001c0001t0023	a0001c0001t0004g0124 a0001c0001t0018g0131 a0001c0001t0023g0247 a0001c0001t0004g0124 a0001c0001t0018g0131 a0001c0001t0023g0247	3	252	0.0119	-16	c.356 others(35): Show c.356-57288_356-57273delTTTTTTTTTTTTTTTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105759449	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02630.hp1 others(8): Show HG01884.hp2 HG01891.hp1 HG02630.hp1 HG02647.hp1 HG02895.hp1 HG02896.hp1 HG03139.hp2 HG03471.hp1 HG03540.hp1 HG06807.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0001t0027 a0001c0001t0029 a0001c0001t0053 a0001c0005t0007	a0001c0001t0001g0145 a0001c0001t0001g0214 a0001c0001t0003g0071 others(8): Show a0001c0001t0001g0145 a0001c0001t0001g0214 a0001c0001t0003g0071 a0001c0001t0007g0202 a0001c0001t0008g0216 a0001c0001t0010g0228 a0001c0001t0017g0213 a0001c0001t0027g0008 a0001c0001t0029g0215 a0001c0001t0053g0031 a0001c0005t0007g0209	11	252	0.0437	-16	c.355 others(35): Show c.355+29139_355+29154delACACACACACACACAC	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L3B_chr12_74532835_74550430	74536670	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	408	0.0025	-16	c.-14 others(27): Show c.-1442_-1427delTTTTTTTTTTTTTTTT	ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding		1164		chr12	TogoVar
ATXN7_chr3_63858867_64008462	63865894	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0294 a0002c0003t0002g0294	1	300	0.0033	-16	c.-11 others(35): Show c.-111+1752_-111+1767delAAAAAAAAAAAAAAAA	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63982058	TTCCAAGA others(9): Show TTCCAAGAGGCTGGCCC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01934.hp2 HG02145.hp1 others(16): Show HG00735.hp1 HG01934.hp2 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03516.hp2 NA18522.hp1 NA19030.hp2 NA19240.hp2 NA20129.hp2	a0004 a0006 a0013 others(1): Show a0004 a0006 a0013 a0026	a0004c0006 a0004c0027 a0006c0028 others(2): Show a0004c0006 a0004c0027 a0006c0028 a0013c0013 a0026c0020	a0004c0006t0004 a0004c0006t0024 a0004c0006t0027 others(4): Show a0004c0006t0004 a0004c0006t0024 a0004c0006t0027 a0004c0027t0004 a0006c0028t0041 a0013c0013t0004 a0026c0020t0060	a0004c0006t0004g0003 a0004c0006t0004g0125 a0004c0006t0004g0132 others(15): Show a0004c0006t0004g0003 a0004c0006t0004g0125 a0004c0006t0004g0132 a0004c0006t0004g0133 a0004c0006t0004g0134 a0004c0006t0004g0136 a0004c0006t0004g0137 a0004c0006t0004g0138 a0004c0006t0004g0150 a0004c0006t0024g0124 a0004c0006t0024g0131 a0004c0006t0027g0027 a0004c0027t0004g0126 a0006c0028t0041g0135 a0013c0013t0004g0074 a0013c0013t0004g0129 a0013c0013t0004g0130 a0026c0020t0060g0009	19	300	0.0633	-16	c.753 others(31): Show c.753-126_753-111delCCAAGAGGCTGGCCCT	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
AUTS2_chr7_69593475_70798506	69602040	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0027 a0001c0007t0006g0027	1	76	0.0132	-16	c.309 others(33): Show c.309+2116_309+2131delGTGTGTGTGTGTGTGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69689640	TTTTATTT others(9): Show TTTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01175.hp2 others(18): Show HG00099.hp2 HG01081.hp2 HG01175.hp2 HG01952.hp1 HG01952.hp2 HG02055.hp1 HG02055.hp2 HG02165.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03540.hp2 HG03579.hp1 HG04199.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0010	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(13): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0003t0027 a0001c0005t0030 a0002c0002t0026 a0002c0002t0031 a0002c0002t0036 a0002c0010t0033	a0001c0001t0002g0053 a0001c0001t0005g0005 a0001c0001t0005g0012 others(18): Show a0001c0001t0002g0053 a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0005g0020 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0009g0023 a0001c0001t0010g0064 a0001c0001t0011g0041 a0001c0001t0028g0021 a0001c0001t0029g0022 a0001c0001t0032g0016 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0003t0027g0009 a0001c0005t0030g0013 a0002c0002t0026g0011 a0002c0002t0031g0007 a0002c0002t0036g0017 a0002c0010t0033g0014	21	76	0.2763	-16	c.309 others(35): Show c.309+89718_309+89733delATTTATTTATTTATTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69714247	ATATGTGT others(9): Show ATATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp1 HG03139.hp1 others(1): Show HG02257.hp1 HG02717.hp1 HG03139.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0004 a0001c0008t0017 a0001c0001t0002 a0001c0001t0004 a0001c0008t0017	a0001c0001t0002g0047 a0001c0001t0004g0048 a0001c0001t0004g0054 others(1): Show a0001c0001t0002g0047 a0001c0001t0004g0048 a0001c0001t0004g0054 a0001c0008t0017g0046	4	76	0.0526	-16	c.309 others(37): Show c.309+114287_309+114302delATGTGTGTGTGTGTGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)