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
EXT1_chr8_117789490_118116826	117874575	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0099 a0001c0002t0007g0099	1	190	0.0053	34	c.963 others(53): Show c.963-37375_963-37374insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EYA2_chr20_46889843_47193844	46987916	G G	GACACTCT others(27): Show GACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA19002.hp1 HG02135.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0135 a0001c0001t0003g0060 a0001c0001t0002g0135 a0001c0001t0003g0060	2	238	0.0084	34	c.-10 others(51): Show c.-10-2085_-10-2084insACACTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15			chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0028 a0001c0002t0004g0028	1	238	0.0042	34	c.-10 others(51): Show c.-10-2036_-10-2035insCTCTCTCTCTCTATATATATATATATAT ATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	238	0.0042	34	c.-10 others(51): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTATATATATATAT ATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0185 a0001c0003t0002g0185	1	238	0.0042	34	c.-10 others(51): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTCTATATATAT ATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	238	0.0042	34	c.-10 others(51): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTCTCTCTCTAT ATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA19060.hp1 HG02523.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0003 a0001c0002t0001 a0001c0003t0003	a0001c0002t0001g0181 a0001c0003t0003g0066 a0001c0002t0001g0181 a0001c0003t0003g0066	2	238	0.0084	34	c.-10 others(51): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0201 a0001c0001t0008g0201	1	392	0.0026	34	c.-68 others(53): Show c.-68-15034_-68-15033insAATATATATATATATATATATATATA TATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	392	0.0026	34	c.-68 others(53): Show c.-68-15034_-68-15033insAAAATATATATATATATATATATATA TATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA19064.hp1 HG03492.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0058 a0001c0001t0003g0052 a0001c0001t0003g0058	2	392	0.0051	34	c.-68 others(53): Show c.-68-15034_-68-15033insAAAAAATATATATATATATATATATA TATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA4_chr6_133236357_133537128	133294062	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	264	0.0038	34	c.33+ others(51): Show c.33+19250_33+19251insTATATATATATATATATATATATATATA TAAAAA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133495377	T T	TAAATATA others(27): Show TAAATATATTCATTTATTTATAAATAAATATAAAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp2 HG03942.hp1 others(1): Show HG02922.hp1 HG02922.hp2 HG03942.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0005 a0002c0002t0016 others(1): Show a0001c0001t0001 a0002c0002t0005 a0002c0002t0016 a0002c0002t0050	a0001c0001t0001g0063 a0002c0002t0005g0056 a0002c0002t0016g0055 others(1): Show a0001c0001t0001g0063 a0002c0002t0005g0056 a0002c0002t0016g0055 a0002c0002t0050g0180	4	264	0.0152	34	c.119 others(55): Show c.1192-10653_1192-10620dupTTCATTTATTTATAAATAAATATA AAGAAATATA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYS_chr6_63714980_65712226	65519708	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0018 a0018	a0018c0016 a0018c0016	a0018c0016t0001 a0018c0016t0001	a0018c0016t0001g0003 a0018c0016t0001g0003	1	24	0.0417	34	c.-33 others(55): Show c.-332-23716_-332-23715insAAAAAAAATATATATATATATATA TATATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	2/42			chr6	TogoVar
F13A1_chr6_6139084_6325662	6210324	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG04228.hp2 NA19062.hp1 others(1): Show HG02074.hp2 HG04228.hp2 NA19062.hp1 NA19077.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0012 a0001c0001 a0002c0002 a0010c0012	a0001c0001t0001 a0002c0002t0012 a0010c0012t0001 a0001c0001t0001 a0002c0002t0012 a0010c0012t0001	a0001c0001t0001g0130 a0001c0001t0001g0264 a0002c0002t0012g0254 others(1): Show a0001c0001t0001g0130 a0001c0001t0001g0264 a0002c0002t0012g0254 a0010c0012t0001g0234	4	292	0.0137	34	c.111 others(55): Show c.1112+11708_1112+11709insATATATATATATATATATATATAT ATATATATAT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	8/14			chr6	TogoVar
F5_chr1_169506951_169591481	169556425	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02630.hp2 HG03041.hp1 others(3): Show HG01109.hp1 HG02630.hp2 HG03041.hp1 HG03225.hp1 HG03579.hp2 NA19030.hp2	a0009 a0011 a0012 others(2): Show a0009 a0011 a0012 a0038 a0039	a0009c0016 a0011c0017 a0012c0024 others(2): Show a0009c0016 a0011c0017 a0012c0024 a0038c0047 a0039c0048	a0009c0016t0003 a0011c0017t0004 a0012c0024t0007 others(2): Show a0009c0016t0003 a0011c0017t0004 a0012c0024t0007 a0038c0047t0006 a0039c0048t0016	a0009c0016t0003g0056 a0009c0016t0003g0065 a0011c0017t0004g0060 others(3): Show a0009c0016t0003g0056 a0009c0016t0003g0065 a0011c0017t0004g0060 a0012c0024t0007g0047 a0038c0047t0006g0057 a0039c0048t0016g0073	6	306	0.0196	34	c.952 others(49): Show c.952+220_952+221insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F7_chr13_113100791_113125685	113101260	A A	ATGCCTGT others(27): Show ATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	400	0.0025	34	c.-45 others(45): Show c.-4582_-4581insTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGAC	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		4530		chr13	TogoVar
F7_chr13_113100791_113125685	113105038	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0074 a0002c0002t0003g0074	1	400	0.0025	34	c.-80 others(43): Show c.-804_-803insATATATATATATATATATATATATATATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		752		chr13	TogoVar
F7_chr13_113100791_113125685	113107513	G G	GCGAGGGT others(27): Show GCGAGGGTGTCCCGGGGTGTGGGTGTCCCAGGGGT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	400	0.0025	34	c.64+ others(49): Show c.64+1608_64+1609insCGAGGGTGTCCCGGGGTGTGGGTGTCCCAG GGGT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7			chr13	TogoVar
F7_chr13_113100791_113125685	113107540	C C	CCCGGGGG others(27): Show CCCGGGGGCGTGGGTGTCCGGGGAGTGTGGGTGTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	400	0.0025	34	c.64+ others(49): Show c.64+1639_64+1640insGGGCGTGGGTGTCCGGGGAGTGTGGGTGTT CCGG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113107608	C C	CCCGGGGG others(27): Show CCCGGGGGCGTGGGTGTCCGGGGAGTGTGGGTGTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	400	0.0025	34	c.64+ others(49): Show c.64+1707_64+1708insGGGCGTGGGTGTCCGGGGAGTGTGGGTGTT CCGG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113107654	G G	GGTGTCCG others(27): Show GGTGTCCGGGGAGTGTGGGTGTTCCGGAGGCGAGT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	400	0.0025	34	c.64+ others(49): Show c.64+1755_64+1756insGGGGAGTGTGGGTGTTCCGGAGGCGAGTGT GTCC	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113108026	A A	AGGGTGTC others(27): Show AGGGTGTCCCGGGGGTGTGGGTGTTCCGGGGGCGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02293.hp2 HG01934.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0179 a0001c0001t0001g0150 a0001c0001t0001g0179	2	400	0.0050	34	c.64+ others(49): Show c.64+2133_64+2134insGGTGTGGGTGTTCCGGGGGCGTGGGTGTCC CGGG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113108408	C C	CCCGGAGG others(27): Show CCCGGAGGCGAGGGGTGTCCCGGGAGTGTGGGTGT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	400	0.0025	34	c.65- others(49): Show c.65-2278_65-2277insAGGCGAGGGGTGTCCCGGGAGTGTGGGTGT CCGG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
FAAH2_chrX_57281706_57494193	57306994	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01168.hp2 HG01169.hp2 others(11): Show HG00621.hp1 HG01168.hp2 HG01169.hp2 HG01258.hp1 HG01517.hp2 HG01981.hp1 HG01993.hp1 HG02071.hp1 HG02273.hp1 HG02273.hp2 NA18947.hp1 NA18955.hp1 NA18978.hp2 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0009 a0001c0001 a0001c0002 a0006c0009	a0001c0001t0001 a0001c0002t0002 a0006c0009t0002 a0001c0001t0001 a0001c0002t0002 a0006c0009t0002	a0001c0001t0001g0002 a0001c0001t0001g0052 a0001c0001t0001g0053 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0139 a0001c0002t0002g0164 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0205 a0001c0002t0002g0249 a0006c0009t0002g0192	14	282	0.0497	34	c.276 others(51): Show c.276-3596_276-3595insTATATATATATATATATATATATATATA TATATA	FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAAH2_chrX_57281706_57494193	57437952	C C	CACATATA others(27): Show CACATATATACATACGTATATGTATACACATATGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	282	0.0036	34	c.111 others(53): Show c.1116+5963_1116+5996dupCGTATATGTATACACATATGTACATA TATACATA	FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAAP100_chr17_81534891_81557353	81539173	T T	TTGTAGTT others(27): Show TTGTAGTTTTTTTTTTTTTTTTATTGTTTTTGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	436	0.0023	34	c.16 others(45): Show c.1645_*1646insCATCAAAAACAATAAAAAAAAAAAAAAAACTACA	FAAP100	ENSG00000185504.17	transcript	ENST00000327787.13	protein_coding		717		chr17	TogoVar
FADS2_chr11_61823300_61872354	61824484	G G	GAGGAGAG others(27): Show GAGGAGAGAGAGAGAGAGAGAGAGAAAGAAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	280	0.0036	34	c.-39 others(45): Show c.-3907_-3906insAGGAGAGAGAGAGAGAGAGAGAGAAAGAAAAGAA	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding		3815		chr11	TogoVar
FADS2_chr11_61823300_61872354	61861353	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01516.hp1 HG04204.hp2 HG01433.hp1 HG01516.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0120 a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0120	3	280	0.0107	34	c.883 others(51): Show c.883-1601_883-1600insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAF1_chr1_50432028_50965267	50554390	T T	TATATATA others(27): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0034 a0001c0001t0017g0034	1	190	0.0053	34	c.126 others(55): Show c.1268+12686_1268+12687insCTCTCTCTCTCTCTCTCTCTCTAT ATATATATAT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	13/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50554390	T T	TATATATA others(27): Show TATATATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0032 a0001c0001t0011g0030 a0001c0001t0003g0032 a0001c0001t0011g0030	2	190	0.0105	34	c.126 others(55): Show c.1268+12686_1268+12687insCTCTCTCTCTCTATATATATATAT ATATATATAT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	13/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50885312	T T	TCTCTCAC others(27): Show TCTCTCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03471.hp1 HG02451.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0179 a0001c0001t0010g0182 a0001c0001t0010g0179 a0001c0001t0010g0182	2	190	0.0105	34	c.46- others(51): Show c.46-27316_46-27315insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGAGAG	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	1/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50885312	T T	TCTCTCTC others(27): Show TCTCTCTCTCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0013 a0001c0001t0041g0013	1	190	0.0053	34	c.46- others(51): Show c.46-27316_46-27315insTGTGTGTGTGTGTGTGTGTGTGTGTGAG AGAGAG	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	1/18			chr1	TogoVar
FAM107B_chr10_14513557_14779897	14737766	T T	TTCTCTCT others(27): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA19062.hp1 NA19085.hp1 NA18974.hp2 NA19062.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0035 a0001c0001t0002g0060 a0002c0002t0001g0241 a0001c0001t0001g0035 a0001c0001t0002g0060 a0002c0002t0001g0241	3	272	0.0110	34	c.411 others(53): Show c.411+36453_411+36486dupGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4			chr10	TogoVar
FAM107B_chr10_14513557_14779897	14767024	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0171 a0001c0003t0003g0171	1	272	0.0037	34	c.411 others(51): Show c.411+7228_411+7229insTATATATATATATATATATATATATATA TATATA	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4			chr10	TogoVar
FAM107B_chr10_14513557_14779897	14767055	T T	TATATATA others(27): Show TATATATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0126 a0001c0001t0004g0126	1	272	0.0037	34	c.411 others(51): Show c.411+7197_411+7198insCTCTCTCTATATATATATATATATATAT ATATAT	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4			chr10	TogoVar
FAM107B_chr10_14513557_14779897	14767055	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0130 a0001c0001t0006g0130	1	272	0.0037	34	c.411 others(51): Show c.411+7197_411+7198insCTCTCTATATATATATATATATATATAT ATATAT	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4			chr10	TogoVar
FAM110B_chr8_57989523_58153784	58006901	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA21309.hp1 HG03486.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0185 a0001c0001t0001g0097 a0001c0001t0001g0185	2	300	0.0067	34	c.-51 others(55): Show c.-512+12118_-512+12119insATATATATATATATATATATATAT ATATATATAT	FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM110B_chr8_57989523_58153784	58006923	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	300	0.0033	34	c.-51 others(55): Show c.-512+12118_-512+12119insATATATATATATATATATATATAT ATATTTTTTT	FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM110B_chr8_57989523_58153784	58006923	A A	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0140 a0001c0001t0009g0140	1	300	0.0033	34	c.-51 others(55): Show c.-512+12118_-512+12119insATATATATATATATATATATATTT TTTTTTTTTT	FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM110B_chr8_57989523_58153784	58006923	A A	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	300	0.0033	34	c.-51 others(55): Show c.-512+12118_-512+12119insATATATATATATATATATATTTTT TTTTTTTTTT	FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM111B_chr11_59102237_59132412	59106681	G G	GCCGCCAG others(27): Show GCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01358.hp1 HG02976.hp2 others(5): Show HG00735.hp1 HG01358.hp1 HG02976.hp2 HG03195.hp2 NA18960.hp1 NA18965.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0003 a0001c0001t0001 a0001c0001t0007 a0001c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0086 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0086 a0001c0001t0001g0101 a0001c0001t0007g0021 a0001c0002t0003g0010	8	414	0.0193	34	c.-74 others(43): Show c.-747_-746insCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGCTC	FAM111B	ENSG00000189057.11	transcript	ENST00000343597.4	protein_coding		555		chr11	TogoVar
FAM117B_chr2_202629969_202774757	202731332	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0131 a0001c0001t0131	a0001c0001t0131g0041 a0001c0001t0131g0041	1	318	0.0031	34	c.960 others(51): Show c.960+4970_960+4971insAATATATATATATATATATATATATATA TATATA	FAM117B	ENSG00000138439.12	transcript	ENST00000392238.3	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM120A_chr9_93446685_93571112	93554120	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0269 a0001c0002t0001g0269	1	318	0.0031	34	c.227 others(53): Show c.2275-2235_2275-2202dupACACACACACACACACACACACACAC ACACACAC	FAM120A	ENSG00000048828.18	transcript	ENST00000277165.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
FAM120B_chr6_170301758_170412067	170361242	A A	ATATATAT others(27): Show ATATATATATATATACGTATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0018 a0001c0009t0018	a0001c0009t0018g0092 a0001c0009t0018g0092	1	289	0.0035	34	c.228 others(53): Show c.2283+2936_2283+2937insTACGTATATATATATATATACGTATA TATATATA	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM13C_chr10_59241133_59367549	59286516	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	204	0.0049	34	c.508 others(51): Show c.508-3070_508-3069insATATATATATATATATATATATATATAT ATATAT	FAM13C	ENSG00000148541.13	transcript	ENST00000618804.5	protein_coding	5/13			chr10	TogoVar
FAM13C_chr10_59241133_59367549	59308566	C C	CCACCATC others(27): Show CCACCATCACCACCACCAGCACCACCAACCAGCAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00558.hp1 others(101): Show HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG02004.hp1 HG02055.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA19001.hp1 NA19009.hp1 NA19009.hp2 NA19030.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0007	a0001c0001 a0001c0007 a0005c0008 others(2): Show a0001c0001 a0001c0007 a0005c0008 a0006c0009 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0007t0001 a0005c0008t0001 a0006c0009t0001 a0007c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(100): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0002g0008 a0001c0001t0002g0081 a0001c0001t0002g0090 a0001c0001t0002g0125 a0001c0001t0003g0018 a0001c0001t0003g0171 a0001c0001t0004g0128 a0001c0001t0005g0120 a0001c0007t0001g0059 a0005c0008t0001g0160 a0006c0009t0001g0142 a0007c0010t0001g0148	104	204	0.5098	34	c.444 others(51): Show c.444-5736_444-5703dupATGCTGGTTGGTGGTGCTGGTGGTGGTG ATGGTG	FAM13C	ENSG00000148541.13	transcript	ENST00000618804.5	protein_coding	4/13			chr10	TogoVar
FAM149A_chr4_186099704_186180337	186130293	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	390	0.0026	34	c.567 others(53): Show c.567-18879_567-18878insCTCTCTCTCTCTCTCTCTCTCTCTCT CTATATAT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186136936	A A	ATCTCTCT others(27): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	390	0.0026	34	c.567 others(53): Show c.567-12210_567-12209insCTCTCTTTCTCTCTCTCTCTCTCTCT CTCTCTCT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM151B_chr5_80483100_80547563	80538448	C C	CTTTCTCT others(27): Show CTTTCTCTTTCTTTCTTTCTTTCTTTCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0295 a0001c0003t0001g0295	1	356	0.0028	34	c.672 others(51): Show c.672-3224_672-3223insTTCTCTTTCTTTCTTTCTTTCTTTCTCT TTCTTT	FAM151B	ENSG00000152380.10	transcript	ENST00000282226.5	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM161A_chr2_61819848_61859060	61823362	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01255.hp2 HG02109.hp2 others(7): Show HG01169.hp1 HG01255.hp2 HG02109.hp2 HG02738.hp1 HG02895.hp2 HG03471.hp1 HG04199.hp1 NA18949.hp2 NA19065.hp2 NA20129.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0008 a0001c0001 a0002c0002 a0006c0008	a0001c0001t0002 a0002c0002t0002 a0006c0008t0002 a0001c0001t0002 a0002c0002t0002 a0006c0008t0002	a0001c0001t0002g0011 a0001c0001t0002g0113 a0001c0001t0002g0230 others(6): Show a0001c0001t0002g0011 a0001c0001t0002g0113 a0001c0001t0002g0230 a0001c0001t0002g0234 a0002c0002t0002g0115 a0002c0002t0002g0222 a0002c0002t0002g0247 a0002c0002t0002g0248 a0006c0008t0002g0251	10	400	0.0250	34	c.30 others(45): Show c.3092_*3093insATATATATATATATATATATATATATATATATAT	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding		1485		chr2	TogoVar

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