Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
F10_chr13_113117799_113154529	113154300	G G	GGGGGAGG others(25): Show GGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0305 a0001c0002t0001g0305	1	412	0.0024	32	c.47 others(43): Show c.4783_*4784insGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCC	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4772		chr13	TogoVar
F13A1_chr6_6139084_6325662	6210324	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18973.hp1 HG02040.hp1 NA18973.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0010c0012 a0002c0002 a0010c0012	a0002c0002t0002 a0010c0012t0001 a0002c0002t0002 a0010c0012t0001	a0002c0002t0002g0100 a0010c0012t0001g0226 a0002c0002t0002g0100 a0010c0012t0001g0226	2	292	0.0069	32	c.111 others(53): Show c.1112+11708_1112+11709insATATATATATATATATATATATAT ATATATAT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	8/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6321373	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0253 a0001c0006t0002g0253	1	292	0.0034	32	c.-80 others(41): Show c.-806_-805insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding		712		chr6	TogoVar
F2_chr11_46714213_46744506	46730796	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG04115.hp1 HG02896.hp1 HG04115.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0001 a0001c0005t0001 a0001c0004t0001 a0001c0005t0001	a0001c0004t0001g0053 a0001c0005t0001g0046 a0001c0004t0001g0053 a0001c0005t0001g0046	2	350	0.0057	32	c.165 others(51): Show c.1654+1238_1654+1239insATATATATATATATATATATATATAT ATGTAT	F2	ENSG00000180210.15	transcript	ENST00000311907.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
F7_chr13_113100791_113125685	113102075	A A	ACATTATT others(25): Show ACATTATTATGAGGAAACAGAATATTCTTATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0060 a0001c0003t0001g0060	1	400	0.0025	32	c.-37 others(43): Show c.-3767_-3766insCATTATTATGAGGAAACAGAATATTCTTATTG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		3715		chr13	TogoVar
F9_chrX_139525739_139568459	139548299	T T	TATATTTG others(25): Show TATATTTGACCCATACAATGTATATTTGACCCA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0134 a0002c0002t0002g0134	1	263	0.0038	32	c.392 others(45): Show c.392-64_392-63insATATTTGACCCATACAATGTATATTTGACCCA	F9	ENSG00000101981.12	transcript	ENST00000218099.7	protein_coding	4/7			chrX	TogoVar
F9_chrX_139525739_139568459	139567772	A A	AGAGGAAG others(25): Show AGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02922.hp1 HG03453.hp1 others(2): Show HG00639.hp1 HG02922.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0108 a0001c0001t0004g0018 a0001c0001t0004g0039 others(1): Show a0001c0001t0001g0108 a0001c0001t0004g0018 a0001c0001t0004g0039 a0001c0001t0004g0070	5	263	0.0190	32	c.57 others(43): Show c.5701_*5702insGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGG	F9	ENSG00000101981.12	transcript	ENST00000218099.7	protein_coding		4314		chrX	TogoVar
FAAH2_chrX_57281706_57494193	57306994	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(14): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00735.hp1 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01943.hp1 HG02004.hp1 HG02148.hp1 HG02615.hp1 HG02723.hp1 HG04184.hp2 NA18947.hp2 NA19085.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 a0001c0001 a0001c0002 a0004c0007	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0004c0007t0001	a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0035 others(14): Show a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0035 a0001c0001t0001g0051 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0115 a0001c0001t0005g0010 a0001c0002t0002g0156 a0001c0002t0002g0167 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0202 a0004c0007t0001g0132	17	282	0.0603	32	c.276 others(49): Show c.276-3596_276-3595insTATATATATATATATATATATATATATA TATA	FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
FABP7_chr6_122774716_122789074	122777845	A A	AAAATAAA others(25): Show AAAATAAATAAATAAATAAATAAATAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	480	0.0021	32	c.-19 others(43): Show c.-1950_-1949insAAATAAATAAATAAATAAATAAATAAATAAAT	FABP7	ENSG00000164434.12	transcript	ENST00000368444.8	protein_coding		1870		chr6	TogoVar
FADS2_chr11_61823300_61872354	61861353	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18950.hp2 NA19011.hp1 others(1): Show HG01106.hp2 NA18950.hp2 NA19011.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0063 a0001c0001t0001g0065 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0190	4	280	0.0143	32	c.883 others(49): Show c.883-1601_883-1600insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	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(25): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	190	0.0053	32	c.126 others(53): Show c.1268+12686_1268+12687insCTCTCTCTCTCTCTCTCTCTCTCT ATATATAT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	13/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50554390	T T	TATATATA others(25): Show TATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02135.hp2 NA19002.hp1 others(1): Show HG01081.hp1 HG02135.hp2 NA19002.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0037 others(1): Show a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0037 a0001c0001t0003g0041	4	190	0.0211	32	c.126 others(53): Show c.1268+12686_1268+12687insCTCTCTCTCTCTCTCTCTATATAT ATATATAT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	13/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50554390	T T	TATATATA others(25): Show TATATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	190	0.0053	32	c.126 others(53): Show c.1268+12686_1268+12687insCTCTCTCTCTCTCTCTATATATAT ATATATAT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	13/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50739278	A A	ACATATAC others(25): Show ACATATACATATGTACATGTGTACACGTACATG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01256.hp2 HG01258.hp1 HG00741.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0018 a0001c0002t0006 a0001c0002t0018	a0001c0002t0006g0046 a0001c0002t0018g0044 a0001c0002t0018g0045 a0001c0002t0006g0046 a0001c0002t0018g0044 a0001c0002t0018g0045	3	190	0.0158	32	c.460 others(47): Show c.460-356_460-325dupCATGTACGTGTACACATGTACATATGTATA TG	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	5/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50739288	A A	ATGTACAT others(25): Show ATGTACATGTGTACACGTACATGCATATACATG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG01070.hp2 others(24): Show HG00438.hp2 HG00621.hp1 HG01070.hp2 HG01081.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01517.hp2 HG02071.hp2 HG02132.hp2 HG02135.hp2 HG02630.hp1 HG03704.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18964.hp2 NA18970.hp1 NA18979.hp1 NA18984.hp1 NA19002.hp1 NA19010.hp1 NA19043.hp2 NA19060.hp2 NA19074.hp1 NA19240.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 others(3): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0038	a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0022 others(24): Show a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0008g0139 a0001c0001t0011g0020 a0001c0001t0011g0023 a0001c0001t0011g0030 a0001c0001t0011g0038 a0001c0001t0016g0006 a0001c0001t0016g0027 a0001c0001t0017g0019 a0001c0001t0017g0026 a0001c0001t0017g0034 a0001c0001t0038g0033	27	190	0.1421	32	c.460 others(47): Show c.460-366_460-335dupCATGTATATGCATGTACGTGTACACATGTA CA	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	5/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50739342	G G	GCATATAC others(25): Show GCATATACATGTGTACATGTGTACACATACATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03516.hp2 HG06807.hp1 HG02976.hp2 HG03516.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0040 a0001c0001t0042 a0001c0001t0023 a0001c0001t0040 a0001c0001t0042	a0001c0001t0023g0010 a0001c0001t0040g0008 a0001c0001t0042g0009 a0001c0001t0023g0010 a0001c0001t0040g0008 a0001c0001t0042g0009	3	190	0.0158	32	c.460 others(47): Show c.460-389_460-388insTATGTATGTGTACACATGTACACATGTATA TG	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	5/18			chr1	TogoVar
FAIM2_chr12_49861896_49908900	49879282	G G	GTGTGGGT others(25): Show GTGTGGGTATGTGTATGCATGTGCATGTGTATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0132 a0001c0001t0037g0132	1	436	0.0023	32	c.801 others(49): Show c.801+8103_801+8104insTATACACATGCACATGCATACACATACC CACA	FAIM2	ENSG00000135472.9	transcript	ENST00000320634.8	protein_coding	11/11			chr12	TogoVar
FAM104A_chr17_73202365_73237394	73225899	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0203 a0002c0004t0001g0203	1	400	0.0025	32	c.321 others(49): Show c.321+1265_321+1266insAAAAAAAATATATATATATATATATATA TATA	FAM104A	ENSG00000133193.13	transcript	ENST00000405159.8	protein_coding	2/3			chr17	TogoVar
FAM107B_chr10_14513557_14779897	14737766	T T	TTCTCTCT others(25): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02886.hp1 NA18947.hp2 others(2): Show HG01934.hp2 HG02886.hp1 NA18947.hp2 NA18982.hp1 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0002c0005t0027	a0001c0001t0001g0069 a0001c0001t0002g0067 a0001c0001t0002g0199 others(2): Show a0001c0001t0001g0069 a0001c0001t0002g0067 a0001c0001t0002g0199 a0001c0001t0009g0014 a0002c0005t0027g0258	5	272	0.0184	32	c.411 others(51): Show c.411+36455_411+36486dupGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4			chr10	TogoVar
FAM107B_chr10_14513557_14779897	14767055	T T	TATATATA others(25): Show TATATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	272	0.0037	32	c.411 others(49): Show c.411+7197_411+7198insCTCTCTCTATATATATATATATATATAT ATAT	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4			chr10	TogoVar
FAM107B_chr10_14513557_14779897	14767055	T T	TATATATA others(25): Show TATATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	272	0.0037	32	c.411 others(49): Show c.411+7197_411+7198insCTCTCTATATATATATATATATATATAT ATAT	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4			chr10	TogoVar
FAM107B_chr10_14513557_14779897	14767055	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA19074.hp1 HG03710.hp2 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0128 a0002c0002t0003g0266 a0001c0001t0001g0128 a0002c0002t0003g0266	2	272	0.0074	32	c.411 others(49): Show c.411+7197_411+7198insCTATATATATATATATATATATATATAT ATAT	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4			chr10	TogoVar
FAM110B_chr8_57989523_58153784	58006923	A A	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	300	0.0033	32	c.-51 others(53): Show c.-512+12118_-512+12119insATATATATATATATATATATTTTT TTTTTTTT	FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM110B_chr8_57989523_58153784	58047591	C C	CCTCTCTC others(25): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02559.hp2 HG02129.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0106 a0001c0001t0007g0135 a0001c0001t0003g0106 a0001c0001t0007g0135	2	300	0.0067	32	c.-41 others(53): Show c.-414+15901_-414+15932dupCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT	FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM111A_chr11_59137856_59160039	59141914	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0048 a0001c0002t0012g0048	1	442	0.0023	32	c.-15 others(43): Show c.-1560_-1559insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA	FAM111A	ENSG00000166801.17	transcript	ENST00000675163.1	protein_coding		941		chr11	TogoVar
FAM117B_chr2_202629969_202774757	202731332	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0139 a0001c0001t0139	a0001c0001t0139g0028 a0001c0001t0139g0028	1	318	0.0031	32	c.960 others(49): Show c.960+4970_960+4971insAATATATATATATATATATATATATATA TATA	FAM117B	ENSG00000138439.12	transcript	ENST00000392238.3	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM120C_chrX_54063324_54188254	54127866	T T	TACAGACG others(25): Show TACAGACGTGAGCCACCATGCCTGGCCCAGGTA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0095 a0001c0001t0005g0095	1	190	0.0053	32	c.206 others(51): Show c.2062+4794_2062+4825dupTACCTGGGCCAGGCATGGTGGCTCAC GTCTGT	FAM120C	ENSG00000184083.12	transcript	ENST00000375180.7	protein_coding	9/15			chrX	TogoVar
FAM135A_chr6_70408508_70566174	70534312	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0245 a0003c0005t0001g0245	1	268	0.0037	32	c.396 others(49): Show c.3965+483_3965+484insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	FAM135A	ENSG00000082269.17	transcript	ENST00000418814.7	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM135B_chr8_138125023_138502261	138226184	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01255.hp2 HG00738.hp2 HG01255.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0004 a0003c0001t0007 a0003c0001t0004 a0003c0001t0007	a0003c0001t0004g0035 a0003c0001t0007g0078 a0003c0001t0004g0035 a0003c0001t0007g0078	2	212	0.0094	32	c.669 others(51): Show c.669+16757_669+16758insGCGCGCGCGCGCGCACACACACACAC ACACAC	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	7/19			chr8	TogoVar
FAM135B_chr8_138125023_138502261	138226184	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0030 a0003c0030	a0003c0030t0007 a0003c0030t0007	a0003c0030t0007g0058 a0003c0030t0007g0058	1	212	0.0047	32	c.669 others(51): Show c.669+16757_669+16758insGCGCGCGCGCGCACACACACACACAC ACACAC	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	7/19			chr8	TogoVar
FAM135B_chr8_138125023_138502261	138314693	C C	CAATAAAT others(25): Show CAATAAATAAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03225.hp1 HG03486.hp2 others(1): Show HG02723.hp2 HG03225.hp1 HG03486.hp2 HG04228.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0001c0006 a0001c0007 others(1): Show a0001c0004 a0001c0006 a0001c0007 a0003c0001	a0001c0004t0001 a0001c0006t0002 a0001c0007t0003 others(1): Show a0001c0004t0001 a0001c0006t0002 a0001c0007t0003 a0003c0001t0004	a0001c0004t0001g0021 a0001c0006t0002g0183 a0001c0007t0003g0054 others(1): Show a0001c0004t0001g0021 a0001c0006t0002g0183 a0001c0007t0003g0054 a0003c0001t0004g0020	4	212	0.0189	32	c.78- others(47): Show c.78-3774_78-3773insTATTTATTTATTTATTTATTTATTTATTTA TT	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	2/19			chr8	TogoVar
FAM13B_chr5_137932960_138038079	137966488	T T	TATATATA others(25): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0003 a0002c0003t0002g0003	1	322	0.0031	32	c.118 others(51): Show c.1180-4020_1180-4019insCTCTCTCTCTCTCTCTCTCTCTATAT ATATAT	FAM13B	ENSG00000031003.11	transcript	ENST00000689681.1	protein_coding	10/23			chr5	TogoVar
FAM13C_chr10_59241133_59367549	59286516	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02683.hp2 HG00673.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0170 a0001c0001t0002g0071 a0001c0001t0002g0170	2	204	0.0098	32	c.508 others(49): Show c.508-3070_508-3069insATATATATATATATATATATATATATAT ATAT	FAM13C	ENSG00000148541.13	transcript	ENST00000618804.5	protein_coding	5/13			chr10	TogoVar
FAM149A_chr4_186099704_186180337	186130293	C C	CTCTCTAT others(25): Show CTCTCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0310 a0002c0004t0001g0310	1	390	0.0026	32	c.567 others(51): Show c.567-18879_567-18878insCTCTATATATATATATATATATATAT ATATAT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186130293	C C	CTCTCTCT others(25): Show CTCTCTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0014 a0008c0013t0014	a0008c0013t0014g0148 a0008c0013t0014g0148	1	390	0.0026	32	c.567 others(51): Show c.567-18879_567-18878insCTCTCTATATATATATATATATATAT ATATAT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186130293	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18977.hp2 HG02155.hp2 NA18977.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0002 a0001c0005 a0003c0002	a0001c0005t0004 a0003c0002t0004 a0001c0005t0004 a0003c0002t0004	a0001c0005t0004g0366 a0003c0002t0004g0359 a0001c0005t0004g0366 a0003c0002t0004g0359	2	390	0.0051	32	c.567 others(51): Show c.567-18879_567-18878insCTCTCTCTCTCTCTCTCTATATATAT ATATAT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186130293	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18991.hp2 HG02165.hp2 NA18991.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0002 a0001c0005 a0003c0002	a0001c0005t0004 a0003c0002t0004 a0001c0005t0004 a0003c0002t0004	a0001c0005t0004g0367 a0003c0002t0004g0328 a0001c0005t0004g0367 a0003c0002t0004g0328	2	390	0.0051	32	c.567 others(51): Show c.567-18879_567-18878insCTCTCTCTCTCTCTCTCTCTATATAT ATATAT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186130293	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0001 a0002c0004t0001g0001	2	390	0.0051	32	c.567 others(51): Show c.567-18879_567-18878insCTCTCTCTCTCTCTCTCTCTCTATAT ATATAT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM151B_chr5_80483100_80547563	80538444	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03579.hp2 HG02486.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0312 a0001c0001t0001g0313	2	356	0.0056	32	c.672 others(49): Show c.672-3228_672-3227insCTTTCTTTCTTTCTTTCTTTCTCTTTCT TTGT	FAM151B	ENSG00000152380.10	transcript	ENST00000282226.5	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM151B_chr5_80483100_80547563	80538448	C C	CTTTCTTT others(25): Show CTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0032	1	356	0.0028	32	c.672 others(49): Show c.672-3224_672-3223insTTCTTTCTCTTTCTTTCTTTCTTTCTTT CTTT	FAM151B	ENSG00000152380.10	transcript	ENST00000282226.5	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM151B_chr5_80483100_80547563	80545706	C C	CATGGTGC others(25): Show CATGGTGCTAGAAGTCAGAATAGTAGTAACCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	356	0.0028	32	c.38 others(43): Show c.3874_*3875insATGGTGCTAGAAGTCAGAATAGTAGTAACCTA	FAM151B	ENSG00000152380.10	transcript	ENST00000282226.5	protein_coding		3144		chr5	TogoVar
FAM161A_chr2_61819848_61859060	61823362	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG02647.hp1 HG02723.hp1 others(7): Show HG01346.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0002c0002t0019 a0001c0001t0002 a0002c0002t0002 a0002c0002t0019	a0001c0001t0002g0221 a0001c0001t0002g0269 a0002c0002t0002g0042 others(6): Show a0001c0001t0002g0221 a0001c0001t0002g0269 a0002c0002t0002g0042 a0002c0002t0002g0044 a0002c0002t0002g0223 a0002c0002t0002g0225 a0002c0002t0002g0246 a0002c0002t0002g0254 a0002c0002t0019g0237	10	400	0.0250	32	c.30 others(43): Show c.3092_*3093insATATATATATATATATATATATATATATATAT	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding		1485		chr2	TogoVar
FAM162B_chr6_116747197_116770719	116748831	C C	CGGGGGGG others(25): Show CGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	474	0.0021	32	c.37 others(43): Show c.3765_*3766insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	FAM162B	ENSG00000183807.8	transcript	ENST00000368557.6	protein_coding		3365		chr6	TogoVar
FAM162B_chr6_116747197_116770719	116752711	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG06807.hp2 HG03927.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0160 a0001c0001t0001g0083 a0001c0001t0001g0160	2	474	0.0042	32	c.391 others(45): Show c.391-17_391-16insATATATATATATATATATATATATATATATAT	FAM162B	ENSG00000183807.8	transcript	ENST00000368557.6	protein_coding	3/3			chr6	TogoVar
FAM170A_chr5_119624558_119640822	119628488	G G	GGGTTTTT others(25): Show GGGTTTTTTTTTTTTTTTTTTTTTTTTTTTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	436	0.0023	32	c.-12 others(43): Show c.-1281_-1280insGGTTTTTTTTTTTTTTTTTTTTTTTTTTTATT	FAM170A	ENSG00000164334.16	transcript	ENST00000695508.1	protein_coding		1069		chr5	TogoVar
FAM184A_chr6_118954763_119083664	118969993	A A	ATAAAATA others(25): Show ATAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp2 HG03654.hp2 HG02280.hp1 HG02280.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0107 a0001c0001t0001g0255 a0001c0001t0001g0047 a0001c0001t0001g0107 a0001c0001t0001g0255	3	286	0.0105	32	c.291 others(51): Show c.2916-3042_2916-3041insATATATATATATATATATATATATAT ATTTTA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	286	0.0035	32	c.291 others(51): Show c.2916-3057_2916-3056insAAAAAATATATATATATATATATATA TATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(25): Show ATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	286	0.0035	32	c.291 others(51): Show c.2916-3057_2916-3056insAAAAAAAAAATATATATATATATATA TATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184B_chr4_17624306_17786621	17628255	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02897.hp1 HG02451.hp1 HG02897.hp1	a0004 a0004	a0004c0010 a0004c0035 a0004c0010 a0004c0035	a0004c0010t0006 a0004c0035t0006 a0004c0010t0006 a0004c0035t0006	a0004c0010t0006g0107 a0004c0035t0006g0139 a0004c0010t0006g0107 a0004c0035t0006g0139	2	238	0.0084	32	c.42 others(43): Show c.4245_*4276dupACACACACACACACACACACACACACACACAC	FAM184B	ENSG00000047662.5	transcript	ENST00000265018.4	protein_coding		1050		chr4	TogoVar
FAM186A_chr12_50322309_50401609	50346215	G G	GAGAGAGA others(25): Show GAGAGAGAGAGAAGGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(23): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG01069.hp2 HG01168.hp2 HG01256.hp2 HG01433.hp1 HG01981.hp2 HG02071.hp2 HG02129.hp2 HG02257.hp1 HG02280.hp2 HG02300.hp2 HG02602.hp1 HG03471.hp1 HG03491.hp1 HG03688.hp2 NA18747.hp1 NA18942.hp2 NA18975.hp1 NA18980.hp2 NA18991.hp2 NA18992.hp1 NA18998.hp1 NA19010.hp1 NA19074.hp1	a0001 a0003 a0014 others(1): Show a0001 a0003 a0014 a0018	a0001c0001 a0001c0042 a0003c0003 others(2): Show a0001c0001 a0001c0042 a0003c0003 a0014c0018 a0018c0026	a0001c0001t0001 a0001c0042t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0001c0042t0001 a0003c0003t0001 a0014c0018t0001 a0018c0026t0001	a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0023 others(23): Show a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0094 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0228 a0001c0001t0001g0291 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0308 a0001c0001t0001g0312 a0001c0042t0001g0077 a0003c0003t0001g0125 a0003c0003t0001g0127 a0003c0003t0001g0202 a0003c0003t0001g0313 a0014c0018t0001g0011 a0014c0018t0001g0219 a0018c0026t0001g0200	26	332	0.0783	32	c.650 others(51): Show c.6503+4113_6503+4114insTTCTTTCTTTCTTTCTTTCCTTCTCT CTCTCT	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/7			chr12	TogoVar

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