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
BRI3BP_chr12_124988645_125036231	124997214	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18947.hp2 NA18969.hp2 others(3): Show HG02015.hp2 NA18947.hp2 NA18969.hp2 NA18970.hp2 NA18977.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0001t0001 a0001c0001t0006 a0001c0001t0012	a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0157 others(3): Show a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0006g0127 a0001c0001t0012g0128	6	410	0.0146	29	c.213 others(46): Show c.213+3230_213+3231insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3_chr7_98276686_98296545	98280245	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00741.hp1 HG00423.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0017 a0001c0001t0001g0033	2	414	0.0048	29	c.-15 others(40): Show c.-1551_-1550insAAAATATATATATATATATATATATATAT	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding		1440		chr7	TogoVar
BRI3_chr7_98276686_98296545	98280245	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	414	0.0024	29	c.-15 others(40): Show c.-1551_-1550insAATATATATATATATATATATATATATAT	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding		1440		chr7	TogoVar
BRINP1_chr9_119161629_119374435	119249853	A A	AGGAAGGA others(22): Show AGGAAGGAAGGAAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03540.hp1 HG02717.hp2 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0209 a0001c0003t0002g0224 a0001c0003t0001g0209 a0001c0003t0002g0224	2	236	0.0085	29	c.219 others(44): Show c.219-704_219-703insCTCCCTCCCTCCCTCCCTTCCTTCCTTCC	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	2/7			chr9	TogoVar
BRINP1_chr9_119161629_119374435	119367238	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	236	0.0042	29	c.-51 others(46): Show c.-51+1817_-51+1818insATATATATATATATATATATATATATAT A	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	1/7			chr9	TogoVar
BRINP3_chr1_190092658_190482864	190302233	A A	ATATATAT others(22): Show ATATATATACATAAATTTATATATATATTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	240	0.0042	29	c.237 others(48): Show c.237-20512_237-20484dupAAATATATATATAAATTTATGTATAT ATA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRIP1_chr17_61674139_61868528	61786761	T T	TTATATAT others(22): Show TTATATATTATATATTTATATATAATATAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp1 HG02027.hp2 others(1): Show HG00597.hp1 HG00642.hp1 HG02027.hp2 NA18965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0002 a0001c0001t0011 a0002c0002t0026 others(1): Show a0001c0001t0002 a0001c0001t0011 a0002c0002t0026 a0002c0003t0005	a0001c0001t0002g0118 a0001c0001t0011g0103 a0002c0002t0026g0092 others(1): Show a0001c0001t0002g0118 a0001c0001t0011g0103 a0002c0002t0026g0092 a0002c0003t0005g0071	4	266	0.0150	29	c.147 others(48): Show c.1474-2366_1474-2338dupCTATATTATATATAAATATATAATAT ATA	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	10/19			chr17	TogoVar
BRK1_chr3_10110675_10132190	10131188	T T	TTCTCAAC others(22): Show TTCTCAACAACAACACGGAGAGGAGGAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	356	0.0028	29	c.48 others(40): Show c.4893_*4894insTCTCAACAACAACACGGAGAGGAGGAAAA	BRK1	ENSG00000254999.4	transcript	ENST00000530758.2	protein_coding		3999		chr3	TogoVar
BRSK2_chr11_1384934_1467689	1435206	A A	AGAGGAGG others(22): Show AGAGGAGGGGTGCCGGTGGATGTCTCAGCG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0230	1	360	0.0028	29	c.92- others(42): Show c.92-816_92-815insATGTCTCAGCGGAGGAGGGGTGCCGGTGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435206	A A	AGAGGAGG others(22): Show AGAGGAGGGGTGCCGGTGGGGGTCTCAGCG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0182 a0001c0001t0076g0182	1	360	0.0028	29	c.92- others(42): Show c.92-808_92-780dupAGCGGAGGAGGGGTGCCGGTGGGGGTCTC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435226	G G	GGTCTCAG others(22): Show GGTCTCAGCGGAGGAGGGGTGCCGGTGGAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG01069.hp2 others(8): Show HG00609.hp1 HG00639.hp1 HG01069.hp2 HG01071.hp1 HG01346.hp1 HG02572.hp2 HG03942.hp1 HG04228.hp2 NA18939.hp2 NA18982.hp2 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0001t0063 a0001c0001t0067 a0002c0002t0005 a0002c0002t0007	a0001c0001t0001g0069 a0001c0001t0001g0123 a0001c0001t0001g0124 others(8): Show a0001c0001t0001g0069 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0150 a0001c0001t0003g0237 a0001c0001t0018g0334 a0001c0001t0063g0253 a0001c0001t0067g0252 a0002c0002t0005g0260 a0002c0002t0005g0274 a0002c0002t0007g0302	11	360	0.0306	29	c.92- others(42): Show c.92-787_92-786insATGTCTCAGCGGAGGAGGGGTGCCGGTGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435232	A A	AGCGGAGG others(22): Show AGCGGAGGAGGGGTGCCGGTGGATGTCTCG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03516.hp2 NA19067.hp1 HG02559.hp2 HG03516.hp2 NA19067.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0014 a0001c0001 a0003c0014	a0001c0001t0003 a0003c0014t0002 a0001c0001t0003 a0003c0014t0002	a0001c0001t0003g0200 a0001c0001t0003g0201 a0003c0014t0002g0319 a0001c0001t0003g0200 a0001c0001t0003g0201 a0003c0014t0002g0319	3	360	0.0083	29	c.92- others(42): Show c.92-787_92-786insATGTCTCGGCGGAGGAGGGGTGCCGGTGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435232	A A	AGCGGAGG others(22): Show AGCGGAGGAGGGGTGCCGGTGGGGGTCTCG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02647.hp1 HG02132.hp1 HG02647.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0043 a0002c0002t0005 a0001c0001t0043 a0002c0002t0005	a0001c0001t0043g0050 a0002c0002t0005g0259 a0001c0001t0043g0050 a0002c0002t0005g0259	2	360	0.0056	29	c.92- others(42): Show c.92-474_92-446dupCCGGTGGGGGTCTCGGCGGAGGAGGGGTG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435239	G G	GAGGGGTG others(22): Show GAGGGGTGCCGGTGGATGTCTCAGCGGAGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02723.hp2 HG00741.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0239 a0001c0001t0003g0203 a0001c0001t0003g0239	2	360	0.0056	29	c.92- others(42): Show c.92-787_92-786insATGTCTCAGCGGAGTAGGGGTGCCGGTGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435384	G G	GAGGGGTG others(22): Show GAGGGGTGCCGGTGGGGGTCTCGGCGGAGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0253 a0001c0001t0063g0253	1	360	0.0028	29	c.92- others(42): Show c.92-628_92-627insTAGGGGTGCCGGTGGGGGTCTCGGCGGAG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435479	C C	CCGGTGGG others(22): Show CCGGTGGGGGTCTCGGCGGAGGAGGGGTGT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG04199.hp1 HG01516.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0127 a0001c0001t0003g0220 a0001c0001t0001g0127 a0001c0001t0003g0220	2	360	0.0056	29	c.92- others(42): Show c.92-533_92-532insTCGGTGGGGGTCTCGGCGGAGGAGGGGTG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435508	C C	CCGGTGGG others(22): Show CCGGTGGGGGTCTCGGCGGAGGAGGGGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0136 a0001c0001t0004g0136	1	360	0.0028	29	c.92- others(42): Show c.92-504_92-503insTCGGTGGGGGTCTCGGCGGAGGAGGGGTG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435537	C C	CCGGTGGG others(22): Show CCGGTGGGGGTCTCGGCGGAGGAGGGGTGT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0246 a0002c0002t0010g0246	1	360	0.0028	29	c.92- others(42): Show c.92-475_92-474insTCGGTGGGGGTCTCGGCGGAGGAGGGGTG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435566	C C	CCGGTGGG others(22): Show CCGGTGGGGGTCTCGGCGGAGGAGGGGTGT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0086 a0002c0002t0002g0086	1	360	0.0028	29	c.92- others(42): Show c.92-452_92-424dupAGGGGTGTCGGTGGGGGTCTCGGCGGAGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRWD1_chr21_39180482_39318632	39312978	C C	CCGGGGGC others(22): Show CCGGGGGCGGGCGGCGGGCGGGGGGCCGGG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0327 a0001c0008t0003g0327	1	338	0.0030	29	c.139 others(42): Show c.139-79_139-78insCCCGGCCCCCCGCCCGCCGCCCGCCCCCG	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	3/40			chr21	TogoVar
BSND_chr1_54993933_55022172	54996837	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	448	0.0022	29	c.-23 others(40): Show c.-2350_-2349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding		2095		chr1	TogoVar
BSN_chr3_49549477_49676549	49587928	T T	TTTTCTTT others(22): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0093 a0001c0001t0019g0093	1	186	0.0054	29	c.224 others(48): Show c.224+33105_224+33106insCTTTTCTTTTCTTTTCTTTTCTTTTC TTT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49605906	A A	ATATAGAT others(22): Show ATATAGATATAAATATATTTATATCTATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0182 a0002c0002t0001g0182	1	186	0.0054	29	c.225 others(48): Show c.225-19069_225-19068insTATAGATATAAATATATTTATATCTA TAT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11			chr3	TogoVar
BSX_chr11_122972570_122986834	122983523	G G	GAAAGAAA others(22): Show GAAAGAAAGAAAAGAAAAGAAAAGAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 NA18975.hp1 NA18994.hp1 others(3): Show HG03654.hp1 NA18975.hp1 NA18994.hp1 NA19056.hp1 NA19082.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0086 a0001c0001t0001g0008 a0001c0001t0001g0086	6	422	0.0142	29	c.-18 others(40): Show c.-1853_-1852insTCTTTTCTTTTCTTTTCTTTTCTTTCTTT	BSX	ENSG00000188909.5	transcript	ENST00000343035.3	protein_coding		1690		chr11	TogoVar
BTAF1_chr10_91918770_92036437	91991292	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	330	0.0030	29	c.285 others(46): Show c.2855-827_2855-826insTATATATATATATATATATATATATATA T	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37			chr10	TogoVar
BTAF1_chr10_91918770_92036437	92032009	C C	CTTCTTTT others(22): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0308 a0001c0001t0003g0308	1	330	0.0030	29	c.30 others(40): Show c.3076_*3077insTTCTTTTTTTTTTTTTTTTTTTTTTTTTT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding		573		chr10	TogoVar
BTBD19_chr1_44803523_44820585	44816377	C C	CACACATA others(22): Show CACACATAGATGTGTGTGTATATTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02132.hp2 HG01175.hp1 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0110 a0001c0001t0005 a0001c0001t0110	a0001c0001t0005g0001 a0001c0001t0110g0098 a0001c0001t0005g0001 a0001c0001t0110g0098	2	436	0.0046	29	c.26 others(40): Show c.2605_*2606insACACATAGATGTGTGTGTATATTATATAT	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		793		chr1	TogoVar
BTBD19_chr1_44803523_44820585	44816535	G G	GTATATTA others(22): Show GTATATTATATATACACATAGATGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02735.hp1 HG03688.hp2 others(2): Show HG01192.hp2 HG02735.hp1 HG03688.hp2 HG03831.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0091 a0001c0001t0092	a0001c0001t0001g0002 a0001c0001t0002g0003 a0001c0001t0018g0003 others(2): Show a0001c0001t0001g0002 a0001c0001t0002g0003 a0001c0001t0018g0003 a0001c0001t0091g0004 a0001c0001t0092g0003	5	436	0.0115	29	c.27 others(40): Show c.2763_*2764insTATATTATATATACACATAGATGTGTGTA	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		951		chr1	TogoVar
BTBD19_chr1_44803523_44820585	44816556	A A	ATGTGTGT others(22): Show ATGTGTGTATATTATATATACACATAGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0061 a0001c0001t0045g0061	1	436	0.0023	29	c.27 others(40): Show c.2784_*2785insTGTGTGTATATTATATATACACATAGATG	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		972		chr1	TogoVar
BTBD19_chr1_44803523_44820585	44816595	A A	ATATATAT others(22): Show ATATATATACACATAGATGTGTGTGTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02735.hp1 HG02886.hp2 others(4): Show HG02615.hp1 HG02735.hp1 HG02886.hp2 HG03654.hp2 NA18522.hp1 NA19077.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 others(3): Show a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0047 a0001c0001t0064 a0001c0001t0103	a0001c0001t0018g0003 a0001c0001t0019g0072 a0001c0001t0025g0001 others(4): Show a0001c0001t0018g0003 a0001c0001t0019g0072 a0001c0001t0025g0001 a0001c0001t0047g0002 a0001c0001t0047g0004 a0001c0001t0064g0069 a0001c0001t0103g0004	7	436	0.0161	29	c.28 others(40): Show c.2823_*2824insTATATATACACATAGATGTGTGTGTATAT	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		1011		chr1	TogoVar
BTBD9_chr6_38163451_38644929	38417801	A A	AGAGAGAG others(22): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18972.hp2 HG02976.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0137 a0001c0001t0066 a0001c0001t0137	a0001c0001t0066g0077 a0001c0001t0137g0152 a0001c0001t0066g0077 a0001c0001t0137g0152	2	224	0.0089	29	c.115 others(50): Show c.1155-72709_1155-72708insCTCTCTCTCTCTCTCTCTCTCTCT CTCTC	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38505964	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0165 a0001c0001t0165	a0001c0001t0165g0078 a0001c0001t0165g0078	1	224	0.0045	29	c.115 others(50): Show c.1154+71635_1154+71636insTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTNL9_chr5_181035266_181066521	181045986	C C	CTCCTCCA others(22): Show CTCCTCCACCATCTCCCCAGCCTGTAGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG01069.hp2 others(3): Show HG00099.hp1 HG00323.hp2 HG01069.hp2 HG01106.hp1 NA18994.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0003 a0002c0002t0004 a0002c0003t0003 a0002c0002t0003 a0002c0002t0004 a0002c0003t0003	a0002c0002t0003g0115 a0002c0002t0004g0087 a0002c0003t0003g0013 others(1): Show a0002c0002t0003g0115 a0002c0002t0004g0087 a0002c0003t0003g0013 a0002c0003t0003g0075	6	390	0.0154	29	c.109 others(44): Show c.109+409_109+410insTGTAGTGTTCCTCCACCATCTCCCCAGCC	BTNL9	ENSG00000165810.17	transcript	ENST00000327705.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL9_chr5_181035266_181066521	181048887	T T	TTATATTA others(22): Show TTATATTAGTTATATAATATATCATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02922.hp1 HG02572.hp2 HG02922.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0012 a0001c0013t0012	a0001c0013t0012g0259 a0001c0013t0012g0260 a0001c0013t0012g0259 a0001c0013t0012g0260	2	390	0.0051	29	c.454 others(44): Show c.454+616_454+617insTATATTAGTTATATAATATATCATATATA	BTNL9	ENSG00000165810.17	transcript	ENST00000327705.14	protein_coding	3/10			chr5	TogoVar
BTRC_chr10_101349165_101562313	101387528	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp1 HG02809.hp1 others(3): Show HG02559.hp2 HG02630.hp1 HG02809.hp1 NA18975.hp2 NA19060.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0017 a0001c0001t0004g0184 a0001c0001t0004g0233 others(3): Show a0001c0001t0003g0017 a0001c0001t0004g0184 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0237 a0001c0001t0004g0248	6	266	0.0226	29	c.48+ others(46): Show c.48+33318_48+33319insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTRC_chr10_101349165_101562313	101455983	A A	ACACACAC others(22): Show ACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	266	0.0038	29	c.157 others(46): Show c.157-5998_157-5997insCACACACACACACACACACACACACACA C	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	2/14			chr10	TogoVar
BTRC_chr10_101349165_101562313	101549713	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0012 a0001c0001t0007g0012	1	266	0.0038	29	c.165 others(46): Show c.1657-963_1657-962insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
BUB3_chr10_123149402_123175467	123156753	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	418	0.0024	29	c.266 others(44): Show c.266-965_266-964insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	BUB3	ENSG00000154473.18	transcript	ENST00000368865.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
C10orf105_chr10_71706701_71724778	71708818	T T	TCCTCTGT others(22): Show TCCTCTGTGAGGTGGAGGCTAAATGAAATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	432	0.0023	29	c.70 others(40): Show c.7089_*7117dupCATTTCATTTAGCCTCCACCTCACAGAGG	C10orf105	ENSG00000214688.6	transcript	ENST00000441508.4	protein_coding		2882		chr10	TogoVar
C10orf90_chr10_126419997_126675693	126532842	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02965.hp1 HG02280.hp1 HG02965.hp1	a0003 a0009 a0003 a0009	a0003c0002 a0009c0026 a0003c0002 a0009c0026	a0003c0002t0002 a0009c0026t0001 a0003c0002t0002 a0009c0026t0001	a0003c0002t0002g0174 a0009c0026t0001g0181 a0003c0002t0002g0174 a0009c0026t0001g0181	2	218	0.0092	29	c.314 others(48): Show c.314-18904_314-18903insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126564998	A A	ATATATAT others(22): Show ATATATATATATATAATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	218	0.0046	29	c.314 others(48): Show c.314-51060_314-51059insATATATAATATATATTATATATATAT ATA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126565034	A A	AATATATA others(22): Show AATATATATAATATATATTATATATTATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0177 a0002c0003t0001g0177	1	218	0.0046	29	c.314 others(48): Show c.314-51096_314-51095insATATAATATATAATATATATTATATA TAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126576693	G G	GTATATGT others(22): Show GTATATGTATATATATACAAGATATACATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG02895.hp2 others(9): Show HG02451.hp1 HG02559.hp2 HG02895.hp2 HG02896.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03516.hp1 HG06807.hp1 NA18522.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0004 a0003c0013 others(1): Show a0001c0001 a0002c0004 a0003c0013 a0007c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0002c0004t0001 a0002c0004t0003 a0002c0004t0005 a0002c0004t0006 a0003c0013t0002 a0007c0010t0001 a0007c0010t0003	a0001c0001t0001g0170 a0001c0001t0003g0199 a0001c0001t0007g0028 others(9): Show a0001c0001t0001g0170 a0001c0001t0003g0199 a0001c0001t0007g0028 a0001c0001t0007g0029 a0002c0004t0001g0030 a0002c0004t0003g0026 a0002c0004t0005g0148 a0002c0004t0006g0150 a0003c0013t0002g0151 a0007c0010t0001g0019 a0007c0010t0001g0164 a0007c0010t0003g0154	12	218	0.0551	29	c.314 others(48): Show c.314-62755_314-62754insTATGTATATCTTGTATATATATACAT ATA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126600151	A A	AGTGTGTG others(22): Show AGTGTGTGCGTATCGCATGTGTGTGCACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp1 HG02647.hp2 others(5): Show HG01243.hp1 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp2 NA18522.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0001 a0003c0002 a0005c0006 others(2): Show a0001c0001 a0003c0002 a0005c0006 a0005c0021 a0007c0018	a0001c0001t0001 a0001c0001t0005 a0003c0002t0006 others(3): Show a0001c0001t0001 a0001c0001t0005 a0003c0002t0006 a0005c0006t0001 a0005c0021t0001 a0007c0018t0003	a0001c0001t0001g0006 a0001c0001t0001g0038 a0001c0001t0005g0039 others(5): Show a0001c0001t0001g0006 a0001c0001t0001g0038 a0001c0001t0005g0039 a0001c0001t0005g0167 a0003c0002t0006g0166 a0005c0006t0001g0027 a0005c0021t0001g0171 a0007c0018t0003g0037	8	218	0.0367	29	c.313 others(48): Show c.313+46385_313+46413dupGTGTGCACACACATGCGATACGCACA CAC	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C12orf40_chr12_39621183_39726914	39653558	T T	TTCTTCTT others(22): Show TTCTTCTTCTTCTTCTTCTTCTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0029 a0001c0001t0001g0030	2	360	0.0056	29	c.686 others(46): Show c.686+3205_686+3206insCTTCTTCTTCTTCTTCTTCTTCTTTTTC T	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf42_chr12_103296955_103500968	103388585	T T	TCAAGTCT others(22): Show TCAAGTCTATACACAAGTTTGTTATAGTAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0102 a0004c0004t0001g0102	1	262	0.0038	29	c.147 others(48): Show c.147+13021_147+13022insTTACTATAACAAACTTGTGTATAGAC TTG	C12orf42	ENSG00000179088.16	transcript	ENST00000548883.6	protein_coding	3/5			chr12	TogoVar
C12orf54_chr12_48477498_48501524	48493673	T T	TAAAGAAA others(22): Show TAAAGAAAATTAATGAAAGTTAATTTTCAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp1 others(81): Show HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00642.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01943.hp2 HG01978.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG06807.hp2 NA18943.hp1 NA18947.hp1 NA18950.hp2 NA18953.hp1 NA18964.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18986.hp1 NA18989.hp2 NA19000.hp1 NA19043.hp1 NA19043.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19085.hp1 NA19091.hp1 NA20300.hp1 NA20905.hp1 NA21309.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0003 a0003c0004 others(1): Show a0001c0001 a0001c0003 a0003c0004 a0006c0008	a0001c0001t0001 a0001c0003t0001 a0003c0004t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0003c0004t0001 a0006c0008t0001	a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0017 others(18): Show a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0003t0001g0004 a0001c0003t0001g0041 a0001c0003t0001g0094 a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0108 a0003c0004t0001g0004 a0006c0008t0001g0011	84	436	0.1927	29	c.242 others(44): Show c.242+691_242+719dupTGAAAGTTAATTTTCAAAAAGAAAATTAA	C12orf54	ENSG00000177627.11	transcript	ENST00000548364.7	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf56_chr12_64259762_64395758	64287255	A A	AAGAAGAA others(22): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03579.hp2 HG02572.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0126 a0001c0001t0004g0128 a0001c0001t0004g0126 a0001c0001t0004g0128	2	312	0.0064	29	c.111 others(48): Show c.1114-1196_1114-1195insCTTCTTCTTCTTCTTCTTCTTCTTCT TCT	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	6/12			chr12	TogoVar
C12orf56_chr12_64259762_64395758	64308972	A A	AAAGAAAG others(22): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0184 a0002c0002t0001g0184	1	312	0.0032	29	c.968 others(46): Show c.968+3706_968+3707insCTCTTTCTTTCTTTCTTTCTTTCTTTCT T	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	5/12			chr12	TogoVar
C12orf56_chr12_64259762_64395758	64313274	A A	AAAAAGAA others(22): Show AAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG02965.hp2 others(4): Show HG00423.hp1 HG00438.hp2 HG02965.hp2 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19085.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0001 a0002c0002t0001 a0003c0004t0001	a0002c0002t0001g0141 a0002c0002t0001g0153 a0002c0002t0001g0165 others(4): Show a0002c0002t0001g0141 a0002c0002t0001g0153 a0002c0002t0001g0165 a0002c0002t0001g0167 a0002c0002t0001g0307 a0003c0004t0001g0266 a0003c0004t0001g0272	7	312	0.0224	29	c.895 others(44): Show c.895-523_895-522insCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	4/12			chr12	TogoVar

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