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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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
TASP1_chr20_13384394_13643932	13469792	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03041.hp2 HG02486.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0088 a0001c0001t0001g0029 a0001c0001t0001g0088	2	290	0.0069	23	c.985 others(42): Show c.985+13412_985+13434dupAAAAAAAAAAAAAAAAAAAAAAA	TASP1	ENSG00000089123.16	transcript	ENST00000337743.9	protein_coding	11/13			chr20	TogoVar
TATDN2_chr3_10243459_10286218	10257841	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0284 a0002c0002t0003g0284	1	366	0.0027	23	c.415 others(40): Show c.415-2283_415-2261dupTTTTTTTTTTTTTTTTTTTTTTT	TATDN2	ENSG00000157014.11	transcript	ENST00000448281.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0008 a0002c0004t0003g0008	1	372	0.0027	23	c.-20 others(34): Show c.-2089_-2088insATATATATTTTTTTTTTTTTTTT	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0008 a0002c0004t0003g0008	1	372	0.0027	23	c.-20 others(34): Show c.-2089_-2088insATATATATATATTTTTTTTTTTT	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0051 a0002c0004t0051	a0002c0004t0051g0105 a0002c0004t0051g0105	1	372	0.0027	23	c.-20 others(34): Show c.-2089_-2088insATATATATATATATATTTTTTTT	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TBC1D16_chr17_79927343_80040872	80037688	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0159 a0001c0002t0007g0159	1	334	0.0030	23	c.-19 others(34): Show c.-1957_-1956insATATATATATATATTTTTTTTTT	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		1817		chr17	TogoVar
TBC1D22A_chr22_46757650_47180693	47039935	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0006 a0001c0001t0015g0006	1	112	0.0089	23	c.132 others(42): Show c.1329+2742_1329+2764dupTTTTTTTTTTTTTTTTTTTTTTT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47055872	T T	TGGTGAGA others(16): Show TGGTGAGATACGCCACTGAGGGTC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	112	0.0089	23	c.132 others(44): Show c.1329+18675_1329+18676insGTGAGATACGCCACTGAGGGTCG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47055872	T T	TGGTGAGA others(16): Show TGGTGAGATATGCCACTGAGGGTC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02258.hp1 HG02895.hp2 HG01433.hp2 HG02258.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0042 a0001c0001t0002g0012 a0001c0002t0001g0001 a0001c0001t0001g0042 a0001c0001t0002g0012 a0001c0002t0001g0001	3	112	0.0268	23	c.132 others(44): Show c.1329+18675_1329+18676insGTGAGATATGCCACTGAGGGTCG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47055874	A A	ATGAGATA others(16): Show ATGAGATACGCCACTGAGGGTCGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02976.hp1 HG03041.hp1 HG02717.hp1 HG02976.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0005 a0001c0001t0002g0037 a0001c0001t0004g0093 a0001c0001t0002g0005 a0001c0001t0002g0037 a0001c0001t0004g0093	3	112	0.0268	23	c.132 others(44): Show c.1329+18697_1329+18719dupCGGTGAGATACGCCACTGAGGGT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47055895	C C	CGGTGAGA others(16): Show CGGTGAGATACGCCACTGAGGGTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02896.hp1 HG02615.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0013 a0001c0001t0010g0025 a0001c0001t0010g0013 a0001c0001t0010g0025	2	112	0.0179	23	c.132 others(44): Show c.1329+18712_1329+18734dupCTGAGGGTTGGTGAGATACGCCA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47055896	G G	GGTGAGAT others(16): Show GGTGAGATACGCCACTGAGGGTCA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp2 others(30): Show HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01261.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp2 HG02074.hp1 HG02074.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02615.hp2 HG02717.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03225.hp2 NA18522.hp1 NA18962.hp1 NA18962.hp2 NA18980.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0003c0007t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0027 others(30): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0003g0026 a0001c0001t0003g0035 a0001c0001t0003g0075 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0088 a0001c0001t0003g0102 a0001c0001t0004g0022 a0001c0001t0004g0045 a0001c0001t0005g0104 a0001c0001t0007g0095 a0001c0001t0008g0044 a0001c0001t0012g0062 a0001c0001t0019g0109 a0001c0001t0020g0038 a0001c0001t0024g0017 a0003c0007t0001g0064	33	112	0.2946	23	c.132 others(44): Show c.1329+18719_1329+18720insCAGTGAGATACGCCACTGAGGGT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47062087	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0050 a0001c0001t0005g0050	1	112	0.0089	23	c.132 others(44): Show c.1329+24910_1329+24911insAAAAAAAAAAAAAAAAAAAAAAA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47091305	T T	TGGTGGGG others(16): Show TGGTGGGGAGTGGCCTCGCGGAGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02976.hp1 HG02717.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0037 a0001c0001t0002g0005 a0001c0001t0002g0037	2	112	0.0179	23	c.133 others(44): Show c.1330-20201_1330-20200insTGGGGAGTGGCCTCGCGGAGGGG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22B_chr6_37252772_37337970	37267527	T T	TATATATA others(16): Show TATATATATAATATATATATACAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0008 a0001c0003t0015g0008	1	222	0.0045	23	c.57- others(38): Show c.57-2057_57-2035dupATATATATATACACATATATATA	TBC1D22B	ENSG00000065491.8	transcript	ENST00000373491.3	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
TBC1D22B_chr6_37252772_37337970	37298539	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0050 a0001c0004t0004g0050	1	222	0.0045	23	c.982 others(40): Show c.982+7184_982+7206dupTTTTTTTTTTTTTTTTTTTTTTT	TBC1D22B	ENSG00000065491.8	transcript	ENST00000373491.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0018 a0007c0007t0002g0018	1	464	0.0022	23	c.31 others(34): Show c.3182_*3183insAAAAAAAAAAAAAAAAAATATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02970.hp2 HG02717.hp1 HG02970.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0007 a0002c0002 a0007c0007	a0002c0002t0002 a0007c0007t0002 a0002c0002t0002 a0007c0007t0002	a0002c0002t0002g0017 a0007c0007t0002g0018 a0002c0002t0002g0017 a0007c0007t0002g0018	2	464	0.0043	23	c.31 others(34): Show c.3182_*3183insAAAAAAAAAAAAAAAATATATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02572.hp2 HG02135.hp1 HG02572.hp2	a0002 a0013 a0002 a0013	a0002c0002 a0013c0016 a0002c0002 a0013c0016	a0002c0002t0002 a0013c0016t0002 a0002c0002t0002 a0013c0016t0002	a0002c0002t0002g0017 a0013c0016t0002g0002 a0002c0002t0002g0017 a0013c0016t0002g0002	2	464	0.0043	23	c.31 others(34): Show c.3182_*3183insAAAAAAAAAAAAAATATATATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG03041.hp1 HG02922.hp2 HG03041.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0007 a0002c0002 a0007c0007	a0002c0002t0002 a0007c0007t0002 a0002c0002t0002 a0007c0007t0002	a0002c0002t0002g0022 a0007c0007t0002g0041 a0002c0002t0002g0022 a0007c0007t0002g0041	2	464	0.0043	23	c.31 others(34): Show c.3182_*3183insAAAAAAAAAAAATATATATATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	464	0.0022	23	c.31 others(34): Show c.3182_*3183insAAAAAAAAAATATATATATATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D2B_chr15_77989985_78082711	77990671	G G	GCGCGGCG others(16): Show GCGCGGCGCGCGCGCGCACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0232 a0002c0003t0001g0232	1	280	0.0036	23	c.74 others(34): Show c.7488_*7489insTGTGTGTGCGCGCGCGCGCCGCG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		4313		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77990939	T T	TTCTCCCC others(16): Show TTCTCCCCTCCCCCACAGCCACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0144 a0001c0001t0039g0144	1	280	0.0036	23	c.71 others(34): Show c.7198_*7220dupCAGTGGCTGTGGGGGAGGGGAGA	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		4045		chr15	TogoVar
TBC1D30_chr12_64819647_64886033	64840004	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0241 a0002c0006t0001g0241	1	298	0.0034	23	c.932 others(40): Show c.932+1155_932+1177dupAAAAAAAAAAAAAAAAAAAAAAA	TBC1D30	ENSG00000111490.15	transcript	ENST00000539867.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TBC1D4_chr13_75278503_75487169	75363618	A A	ATTGTCTC others(16): Show ATTGTCTCATGTCTTACATATATG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0168 a0002c0002t0005g0168	1	214	0.0047	23	c.499 others(40): Show c.499-1012_499-1011insCATATATGTAAGACATGAGACAA	TBC1D4	ENSG00000136111.14	transcript	ENST00000377636.8	protein_coding	1/20			chr13	TogoVar
TBC1D5_chr3_17152168_17747631	17393028	G G	GACTTCTT others(16): Show GACTTCTTAATGATCACCATTCTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp2 HG02647.hp1 others(4): Show HG02572.hp1 HG02630.hp2 HG02647.hp1 HG03098.hp2 HG03209.hp2 NA18522.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0001 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0031 a0001c0001t0001g0082 a0001c0001t0001g0106 others(4): Show a0001c0001t0001g0031 a0001c0001t0001g0082 a0001c0001t0001g0106 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0007g0156 a0001c0001t0008g0081	7	162	0.0432	23	c.510 others(40): Show c.510-9014_510-9013insTAGAATGGTGATCATTAAGAAGT	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	8/22			chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17393028	G G	GACTTTTT others(16): Show GACTTTTTAATGATCACCATTCTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp2 HG01433.hp1 others(22): Show HG00280.hp1 HG01109.hp2 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02647.hp2 HG02717.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp2 HG04184.hp2 NA18522.hp1 NA18975.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0002c0002t0001 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(22): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0002g0005 a0001c0001t0002g0020 a0001c0001t0002g0045 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0003g0109 a0001c0001t0004g0114 a0001c0001t0006g0003 a0001c0001t0006g0043 a0001c0001t0006g0110 a0001c0001t0009g0123 a0002c0002t0001g0154 a0003c0005t0001g0115	25	162	0.1543	23	c.510 others(40): Show c.510-9036_510-9014dupTAGAATGGTGATCATTAAAAAGT	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	8/22			chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17591233	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	162	0.0062	23	c.-36 others(42): Show c.-36+32593_-36+32615dupTTTTTTTTTTTTTTTTTTTTTTT	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	2/22			chr3	TogoVar
TBC1D7_chr6_13299951_13333537	13310637	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0127 a0001c0002t0008g0127	1	440	0.0023	23	c.520 others(40): Show c.520-2893_520-2892insTTTTTTTTTTTTTTTTTTTTTTT	TBC1D7	ENSG00000145979.18	transcript	ENST00000379300.8	protein_coding	5/7			chr6	TogoVar
TBC1D8_chr2_101002228_101156382	101054667	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	332	0.0030	23	c.403 others(38): Show c.403-332_403-331insAAAAAAAAAAAAAAAAAAAAAAA	TBC1D8	ENSG00000204634.13	transcript	ENST00000409318.2	protein_coding	3/19			chr2	TogoVar
TBC1D8_chr2_101002228_101156382	101054672	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	332	0.0030	23	c.403 others(38): Show c.403-359_403-337dupAAAAAAAAAAAAAAAAAAAAAAA	TBC1D8	ENSG00000204634.13	transcript	ENST00000409318.2	protein_coding	3/19			chr2	TogoVar
TBC1D8_chr2_101002228_101156382	101151441	G G	GTGGCCCC others(16): Show GTGGCCCCGCCCCGCACCCGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG02602.hp1 HG03710.hp1 others(3): Show HG01167.hp2 HG02602.hp1 HG03710.hp1 HG03834.hp2 HG04115.hp2 NA19085.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0001 a0008c0011t0001 a0001c0001t0001 a0008c0011t0001	a0001c0001t0001g0116 a0001c0001t0001g0293 a0001c0001t0001g0312 others(3): Show a0001c0001t0001g0116 a0001c0001t0001g0293 a0001c0001t0001g0312 a0001c0001t0001g0323 a0001c0001t0001g0324 a0008c0011t0001g0208	6	332	0.0181	23	c.-21 others(32): Show c.-211_-189dupGGGGCGGGTGCGGGGCGGGGCCA	TBC1D8	ENSG00000204634.13	transcript	ENST00000409318.2	protein_coding		60		chr2	TogoVar
TBC1D9B_chr5_179857071_179912897	179896762	G G	GATCCACC others(16): Show GATCCACCTGCCTTAGCCTCCCAA	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	362	0.0028	23	c.349 others(40): Show c.349-2171_349-2149dupTTGGGAGGCTAAGGCAGGTGGAT	TBC1D9B	ENSG00000197226.13	transcript	ENST00000355235.8	protein_coding	3/20			chr5	TogoVar
TBCB_chr19_36110468_36130941	36126727	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	448	0.0022	23	c.94 others(32): Show c.945_*946insAAAAAAAAAAAAAAAAAAAAAAA	TBCB	ENSG00000105254.12	transcript	ENST00000221855.8	protein_coding		787		chr19	TogoVar
TBCCD1_chr3_186541067_186572339	186570572	A A	AATCTGGT others(16): Show AATCTGGTCAAGCAGCTGCGACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	374	0.0027	23	c.-33 others(34): Show c.-3350_-3349insAGGTCGCAGCTGCTTGACCAGAT	TBCCD1	ENSG00000113838.13	transcript	ENST00000338733.10	protein_coding		3234		chr3	TogoVar
TBCD_chr17_82747065_82950914	82758384	G G	GAAAAAAA others(16): Show GAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02027.hp1 HG01928.hp2 HG02027.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0100 a0004c0005t0001g0111 a0004c0005t0001g0100 a0004c0005t0001g0111	2	318	0.0063	23	c.235 others(40): Show c.235+2188_235+2189insAAAAAAAAAAAAAAAAAAAAAAA	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	2/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82844236	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18964.hp2 HG03471.hp2 NA18964.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0013 a0001c0001 a0005c0013	a0001c0001t0016 a0005c0013t0011 a0001c0001t0016 a0005c0013t0011	a0001c0001t0016g0104 a0005c0013t0011g0235 a0001c0001t0016g0104 a0005c0013t0011g0235	2	318	0.0063	23	c.131 others(44): Show c.1319-25988_1319-25987insGTGTGTGTGTGTGTGTGTGTGTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38			chr17	TogoVar
TBKBP1_chr17_47689161_47717052	47700289	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18949.hp1 NA19009.hp1 others(2): Show NA18943.hp2 NA18949.hp1 NA19009.hp1 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0094 a0001c0001t0001g0135 a0001c0001t0001g0160 others(1): Show a0001c0001t0001g0094 a0001c0001t0001g0135 a0001c0001t0001g0160 a0001c0003t0001g0050	5	386	0.0130	23	c.872 others(38): Show c.872+597_872+619dupTTTTTTTTTTTTTTTTTTTTTTT	TBKBP1	ENSG00000198933.11	transcript	ENST00000578982.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBL1XR1_chr3_177014344_177202482	177017422	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0243 a0001c0001t0004g0243	1	306	0.0033	23	c.80 others(34): Show c.8075_*8076insAAAAAAAAAAAAAAAAAAAAAAA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding		1921		chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177055543	G G	GGGGGGCG others(16): Show GGGGGGCGGGGCGGGGTGGGGGGT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0176 a0001c0001t0004g0176	1	306	0.0033	23	c.59- others(38): Show c.59-1626_59-1625insACCCCCCACCCCGCCCCGCCCCC	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	3/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177082738	T T	TTTATATA others(16): Show TTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18948.hp2 HG02293.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0011 a0001c0001t0012g0033 a0001c0001t0012g0011 a0001c0001t0012g0033	2	306	0.0065	23	c.-46 others(42): Show c.-46+15727_-46+15728insTATATATATATATATATATATAA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	2/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112107	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18959.hp2 NA18993.hp1 HG02293.hp1 NA18959.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0040 a0001c0001t0002 a0001c0001t0012 a0001c0001t0040	a0001c0001t0002g0008 a0001c0001t0012g0011 a0001c0001t0040g0007 a0001c0001t0002g0008 a0001c0001t0012g0011 a0001c0001t0040g0007	3	306	0.0098	23	c.-12 others(44): Show c.-121-13567_-121-13566insAAAAAAATATATATATATATATA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112107	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	306	0.0033	23	c.-12 others(44): Show c.-121-13567_-121-13566insAAAAAAAAATATATATATATATA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1X_chrX_9460058_9724740	9491338	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp2 HG02683.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0038 a0001c0001t0015 a0001c0001t0038	a0001c0001t0015g0047 a0001c0001t0038g0139 a0001c0001t0015g0047 a0001c0001t0038g0139	2	199	0.0101	23	c.-20 others(44): Show c.-200-10441_-200-10440insATATATATATATATATATATTTT	TBL1X	ENSG00000101849.18	transcript	ENST00000645353.2	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
TBPL1_chr6_133948224_133995432	133985276	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0072 a0001c0001t0033g0072	1	330	0.0030	23	c.481 others(38): Show c.481+627_481+628insAAAAAAAAAAAAAAAAAAAAAAA	TBPL1	ENSG00000028839.10	transcript	ENST00000237264.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TBX15_chr1_118878047_118993343	118883611	A A	ATTCCTTC others(16): Show ATTCCTTCTTCACACCCTTTTATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0153 a0001c0001t0027g0153	1	364	0.0028	23	c.10 others(34): Show c.1098_*1120dupAATAAAAGGGTGTGAAGAAGGAA	TBX15	ENSG00000092607.15	transcript	ENST00000369429.5	protein_coding	8/8	1120		chr1	TogoVar
TBX15_chr1_118878047_118993343	118893356	G G	GGAAGGAA others(16): Show GGAAGGAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	364	0.0028	23	c.102 others(42): Show c.1024+5671_1024+5672insTTTCTTTCTTTCTTTCTTCCTTC	TBX15	ENSG00000092607.15	transcript	ENST00000369429.5	protein_coding	7/7			chr1	TogoVar
TBX1_chr22_19755778_19772334	19768953	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	432	0.0023	23	c.20 others(34): Show c.2086_*2087insTTTTTTTTTTTTTTTTTTTTTTT	TBX1	ENSG00000184058.16	transcript	ENST00000649276.2	protein_coding		1620		chr22	TogoVar
TBX22_chrX_80009753_80036774	80012157	G G	GAGAAAGA others(16): Show GAGAAAGAAGAGAAGAGAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	325	0.0031	23	c.-27 others(34): Show c.-2733_-2732insAGAAAGAAGAGAAGAGAGAAGAA	TBX22	ENSG00000122145.15	transcript	ENST00000373296.8	protein_coding		2595		chrX	TogoVar
TBX2_chr17_61394843_61414466	61402971	A A	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG02738.hp2 others(5): Show HG01516.hp1 HG01517.hp2 HG02738.hp2 HG03453.hp1 NA18955.hp2 NA18973.hp2 NA19087.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0004 a0001c0002t0010 others(1): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0010 a0001c0003t0005	a0001c0002t0001g0016 a0001c0002t0004g0129 a0001c0002t0010g0016 others(1): Show a0001c0002t0001g0016 a0001c0002t0004g0129 a0001c0002t0010g0016 a0001c0003t0005g0053	8	438	0.0183	23	c.664 others(36): Show c.664-90_664-89insGAGAGAGAGAGAGAGAGAGAGAG	TBX2	ENSG00000121068.14	transcript	ENST00000240328.4	protein_coding	2/6			chr17	TogoVar

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