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
ACTG2_chr2_73888008_73924865	73904777	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00733.hp1 others(19): Show HG00280.hp2 HG00639.hp2 HG00733.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG01496.hp1 HG02155.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG03704.hp2 NA19000.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0315 a0001c0002t0001g0007 a0001c0002t0001g0017 others(17): Show a0001c0001t0001g0315 a0001c0002t0001g0007 a0001c0002t0001g0017 a0001c0002t0001g0091 a0001c0002t0001g0095 a0001c0002t0001g0125 a0001c0002t0001g0177 a0001c0002t0001g0180 a0001c0002t0001g0223 a0001c0002t0001g0385 a0001c0002t0001g0397 a0001c0002t0003g0020 a0001c0002t0003g0083 a0001c0002t0003g0104 a0001c0002t0003g0124 a0001c0002t0003g0173 a0001c0002t0003g0297 a0001c0002t0003g0354 a0001c0002t0003g0361 a0001c0002t0003g0375	22	416	0.0529	-20	c.255 others(37): Show c.255+2308_255+2327delTATATATATATATATATATA	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73923641	CAAGAAAA others(13): Show CAAGAAAAGAAAAGAAAAGAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18968.hp2 NA18994.hp1 NA18939.hp2 NA18968.hp2 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0290 a0001c0002t0002g0314 a0001c0002t0002g0316 a0001c0002t0002g0290 a0001c0002t0002g0314 a0001c0002t0002g0316	3	416	0.0072	-20	c.40 others(31): Show c.4067_*4086delAAGAAAAGAAAAGAAAAGAA	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding		3777		chr2	TogoVar
ACTL6B_chr7_100638097_100661448	100652999	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	360	0.0028	-20	c.369 others(37): Show c.369+2000_369+2019delTTTTTTTTTTTTTTTTTTTT	ACTL6B	ENSG00000077080.10	transcript	ENST00000160382.10	protein_coding	4/13			chr7	TogoVar
ACTL7A_chr9_108857266_108868756	108858823	GACACACA others(13): Show GACACACACACATACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	482	0.0021	-20	c.-34 others(31): Show c.-3499_-3480delACACACACACATACACACAC	ACTL7A	ENSG00000187003.7	transcript	ENST00000333999.5	protein_coding		3442		chr9	TogoVar
ACTL7B_chr9_108849588_108860986	108858823	GACACACA others(13): Show GACACACACACATACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	470	0.0021	-20	c.-29 others(31): Show c.-2913_-2894delGTGTGTGTATGTGTGTGTGT	ACTL7B	ENSG00000148156.8	transcript	ENST00000374667.5	protein_coding		2838		chr9	TogoVar
ACTL9_chr19_8692400_8703795	8695238	AAAACAAA others(13): Show AAAACAAACAAACAAACAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 NA18522.hp1 NA19240.hp1 HG02922.hp1 NA18522.hp1 NA19240.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0002 a0008c0009t0002 a0001c0001t0002 a0008c0009t0002	a0001c0001t0002g0000 a0008c0009t0002g0000 a0001c0001t0002g0000 a0008c0009t0002g0000	3	356	0.0084	-20	c.21 others(31): Show c.2193_*2212delGTTTGTTTGTTTGTTTGTTT	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding		2161		chr19	TogoVar
ACTN1_chr14_68869128_68984302	68899054	CCACACAC others(13): Show CCACACACACCTCACACACCA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03195.hp2 HG03579.hp1 others(1): Show HG02572.hp1 HG03195.hp2 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0186 a0001c0001t0001g0232 a0001c0001t0001g0243 others(1): Show a0001c0001t0001g0186 a0001c0001t0001g0232 a0001c0001t0001g0243 a0001c0001t0002g0024	4	284	0.0141	-20	c.762 others(37): Show c.762+3403_762+3422delTGGTGTGTGAGGTGTGTGTG	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	8/21			chr14	TogoVar
ACTN2_chr1_236681499_236769631	236689300	GATATATA others(13): Show GATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02145.hp1 HG02257.hp1 others(20): Show HG01981.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02559.hp1 HG02615.hp2 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0004c0026	a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 others(8): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0002t0002 a0001c0003t0005 a0001c0004t0005 a0001c0007t0004 a0004c0026t0005	a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0004g0074 others(20): Show a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0005g0080 a0001c0001t0009g0073 a0001c0001t0011g0067 a0001c0001t0014g0082 a0001c0001t0014g0084 a0001c0001t0014g0086 a0001c0001t0018g0088 a0001c0002t0002g0072 a0001c0002t0002g0079 a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0003t0005g0068 a0001c0004t0005g0077 a0001c0004t0005g0081 a0001c0007t0004g0070 a0001c0007t0004g0083 a0001c0007t0004g0085 a0004c0026t0005g0076	23	344	0.0669	-20	c.126 others(37): Show c.126+2521_126+2540delTATATATATATATATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236689320	TATATATA others(13): Show TATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG01123.hp2 others(26): Show HG00639.hp2 HG01081.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01433.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02148.hp1 HG02273.hp1 HG02647.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03704.hp1 HG04204.hp1 NA18747.hp2 NA18960.hp1 NA18964.hp2 NA18969.hp1 NA18995.hp1 NA19030.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0001c0006 others(5): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0011 a0001c0015 a0001c0018 a0008c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0003t0001 a0001c0003t0006 a0001c0003t0020 a0001c0003t0021 a0001c0006t0008 a0001c0007t0004 a0001c0011t0004 a0001c0011t0005 a0001c0015t0016 a0001c0018t0006 a0008c0017t0024	a0001c0001t0001g0103 a0001c0001t0001g0114 a0001c0001t0004g0102 others(26): Show a0001c0001t0001g0103 a0001c0001t0001g0114 a0001c0001t0004g0102 a0001c0001t0004g0117 a0001c0001t0004g0119 a0001c0001t0006g0135 a0001c0001t0009g0118 a0001c0001t0015g0116 a0001c0003t0001g0129 a0001c0003t0001g0133 a0001c0003t0006g0124 a0001c0003t0006g0126 a0001c0003t0006g0130 a0001c0003t0006g0131 a0001c0003t0006g0132 a0001c0003t0006g0134 a0001c0003t0006g0136 a0001c0003t0020g0122 a0001c0003t0021g0125 a0001c0006t0008g0127 a0001c0006t0008g0128 a0001c0006t0008g0344 a0001c0007t0004g0112 a0001c0011t0004g0101 a0001c0011t0005g0100 a0001c0015t0016g0113 a0001c0015t0016g0115 a0001c0018t0006g0123 a0008c0017t0024g0099	29	344	0.0843	-20	c.126 others(37): Show c.126+2523_126+2542delTATATATATATATATATACA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN4_chr19_38642649_38736589	38673558	TATATATA others(13): Show TATATATATTTATATATATTC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03516.hp2 HG00642.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0036 a0001c0001t0020 a0001c0001t0036	a0001c0001t0020g0277 a0001c0001t0036g0268 a0001c0001t0020g0277 a0001c0001t0036g0268	2	314	0.0064	-20	c.162 others(39): Show c.162+25681_162+25700delTATATATATTCATATATATT	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735670	CGCGGGGC others(13): Show CGCGGGGCGGGGGTTCTGGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG02015.hp2 HG04115.hp2 others(5): Show HG01257.hp1 HG02015.hp2 HG04115.hp2 NA18954.hp1 NA18970.hp2 NA19005.hp2 NA19043.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0029 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0029 a0001c0001t0038 a0001c0001t0039 a0001c0002t0034	a0001c0001t0001g0170 a0001c0001t0002g0002 a0001c0001t0002g0112 others(5): Show a0001c0001t0001g0170 a0001c0001t0002g0002 a0001c0001t0002g0112 a0001c0001t0002g0157 a0001c0001t0029g0084 a0001c0001t0038g0158 a0001c0001t0039g0108 a0001c0002t0034g0045	8	314	0.0255	-20	c.62 others(31): Show c.6239_*6258delGCGGGGCGGGGGTTCTGGGG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4082		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735772	CGGGGCGG others(13): Show CGGGGCGGGGCGGGGGTTCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01943.hp2 HG01257.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0226 a0001c0002t0001g0062 a0001c0002t0001g0226	2	314	0.0064	-20	c.63 others(31): Show c.6341_*6360delGGGGCGGGGCGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4184		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735797	CGGGGCGG others(13): Show CGGGGCGGGGCGGGGGTTCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02071.hp2 HG02074.hp2 others(8): Show HG00558.hp1 HG02071.hp2 HG02074.hp2 HG02135.hp1 NA18612.hp1 NA18940.hp2 NA18953.hp2 NA18955.hp1 NA18975.hp2 NA18993.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0015 a0001c0001t0002 a0001c0001t0014 a0001c0001t0015	a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0109 others(8): Show a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0119 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0139 a0001c0001t0014g0120 a0001c0001t0015g0118	11	314	0.0350	-20	c.63 others(31): Show c.6366_*6385delGGGGCGGGGCGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4209		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735848	GGGGCGGG others(13): Show GGGGCGGGGCGGTGGTTCTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0004 a0001c0005t0008g0004	1	314	0.0032	-20	c.64 others(31): Show c.6417_*6436delGGGCGGGGCGGTGGTTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4260		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735868	CGGGCGGG others(13): Show CGGGCGGGGCGGGGCGGGGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	314	0.0032	-20	c.64 others(31): Show c.6437_*6456delGGGCGGGGCGGGGCGGGGCG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4280		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38736514	CCAAGCCC others(13): Show CCAAGCCCCAGGGCCGGTTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0249 a0001c0001t0006g0249	1	314	0.0032	-20	c.70 others(31): Show c.7083_*7102delCAAGCCCCAGGGCCGGTTGA	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4926		chr19	TogoVar
ACTR1B_chr2_97650939_97669044	97665725	CTCTCTCT others(13): Show CTCTCTCTCTCTCTATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0005 a0002c0003t0003g0005	1	398	0.0025	-20	c.-18 others(31): Show c.-1855_-1836delTATATATAGAGAGAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1682		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665727	CTCTCTCT others(13): Show CTCTCTCTCTCTATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 NA19043.hp1 HG02723.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0005 a0002c0003t0005 a0001c0002t0005 a0002c0003t0005	a0001c0002t0005g0056 a0002c0003t0005g0007 a0001c0002t0005g0056 a0002c0003t0005g0007	2	398	0.0050	-20	c.-18 others(31): Show c.-1857_-1838delTATATATATAGAGAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1684		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665729	CTCTCTCT others(13): Show CTCTCTCTCTATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03486.hp2 HG03209.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0005 a0002c0003t0003 a0001c0002t0005 a0002c0003t0003	a0001c0002t0005g0054 a0002c0003t0003g0010 a0001c0002t0005g0054 a0002c0003t0003g0010	2	398	0.0050	-20	c.-18 others(31): Show c.-1859_-1840delTATATATATATAGAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1686		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665731	CTCTCTCT others(13): Show CTCTCTCTATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03130.hp1 others(3): Show HG02895.hp2 HG02897.hp2 HG03130.hp1 HG03453.hp2 HG03579.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0006 a0001c0002t0005g0006	6	398	0.0151	-20	c.-18 others(31): Show c.-1861_-1842delTATATATATATATAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1688		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665733	CTCTCTAT others(13): Show CTCTCTATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0006 a0001c0002t0005g0006	1	398	0.0025	-20	c.-18 others(31): Show c.-1863_-1844delTATATATATATATATAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1690		chr2	TogoVar
ACTR6_chr12_100195815_100229424	100198756	TACACACA others(13): Show TACACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02015.hp1 HG02451.hp2 others(8): Show HG01884.hp2 HG02015.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02735.hp1 HG02922.hp1 HG03130.hp1 HG03834.hp2 HG03942.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0135 a0001c0001t0001g0136 others(5): Show a0001c0001t0001g0011 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141	11	242	0.0455	-20	c.-20 others(31): Show c.-2095_-2076delACACACACACACACACACAC	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding		2058		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51993765	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp1 HG02486.hp1 HG02055.hp2 HG02280.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168	3	324	0.0093	-20	c.139 others(37): Show c.1393-200_1393-181delAAAAAAAAAAAAAAAAAAAA	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR1_chr2_157731446_157881330	157795377	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0143 a0001c0003t0019g0143	1	174	0.0058	-20	c.67+ others(35): Show c.67+4030_67+4049delGTGTGTGTGTGTGTGTGTGT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	3/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157826697	GAAGGAAA others(13): Show GAAGGAAAGGAAAGGAAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(29): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00438.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02074.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02976.hp2 HG03654.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 NA18946.hp2 NA18956.hp1 NA18960.hp1 NA18960.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA19043.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0004 a0001c0006t0006	a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0054 others(29): Show a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0088 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0002g0039 a0001c0001t0002g0051 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0097 a0001c0001t0002g0117 a0001c0001t0002g0153 a0001c0001t0012g0011 a0001c0001t0013g0165 a0001c0001t0013g0166 a0001c0002t0001g0028 a0001c0002t0001g0033 a0001c0002t0001g0037 a0001c0002t0001g0089 a0001c0002t0001g0125 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0147 a0001c0005t0001g0072 a0001c0005t0001g0123 a0001c0005t0004g0174 a0001c0006t0006g0160	32	174	0.1839	-20	c.-18 others(39): Show c.-182-8158_-182-8139delTCCTTTCCTTTCCTTTCCTT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR2B_chr3_38448890_38498142	38492731	TACACACA others(13): Show TACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01099.hp2 others(9): Show HG00639.hp1 HG01074.hp1 HG01099.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02723.hp1 HG02809.hp2 HG03491.hp1 HG03540.hp2 HG03579.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0024 a0001c0001t0058 others(3): Show a0001c0001t0017 a0001c0001t0024 a0001c0001t0058 a0001c0001t0070 a0001c0001t0106 a0001c0001t0174	a0001c0001t0017g0020 a0001c0001t0017g0021 a0001c0001t0017g0132 others(7): Show a0001c0001t0017g0020 a0001c0001t0017g0021 a0001c0001t0017g0132 a0001c0001t0017g0135 a0001c0001t0024g0005 a0001c0001t0058g0011 a0001c0001t0058g0125 a0001c0001t0070g0142 a0001c0001t0106g0005 a0001c0001t0174g0011	12	410	0.0293	-20	c.94 others(31): Show c.9453_*9472delCACACACACACACACACACA	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	11/11	9453	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACVR2B_chr3_38448890_38498142	38492785	CACACACA others(13): Show CACACACACACACACACACAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 HG01106.hp1 HG01175.hp1 others(6): Show HG00597.hp2 HG01106.hp1 HG01175.hp1 HG01256.hp2 NA18956.hp1 NA18990.hp1 NA19070.hp2 NA19075.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0030 a0001c0001t0115 others(1): Show a0001c0001t0018 a0001c0001t0030 a0001c0001t0115 a0001c0001t0203	a0001c0001t0018g0010 a0001c0001t0018g0030 a0001c0001t0030g0006 others(3): Show a0001c0001t0018g0010 a0001c0001t0018g0030 a0001c0001t0030g0006 a0001c0001t0030g0068 a0001c0001t0115g0097 a0001c0001t0203g0010	9	410	0.0220	-20	c.94 others(31): Show c.9458_*9477delACACACACACACACATACAC	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	11/11	9458	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACVRL1_chr12_51902504_51928361	51919363	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03516.hp2 HG02895.hp2 HG03516.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0022 a0001c0005t0008 a0001c0005t0022	a0001c0005t0008g0110 a0001c0005t0022g0111 a0001c0005t0008g0110 a0001c0005t0022g0111	2	438	0.0046	-20	c.137 others(37): Show c.1377+270_1377+289delGTGTGTGTGTGTGTGTGTGT	ACVRL1	ENSG00000139567.13	transcript	ENST00000388922.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACY1_chr3_51978535_51994197	51981894	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01123.hp1 HG03492.hp1 others(11): Show HG01106.hp1 HG01123.hp1 HG03492.hp1 HG03688.hp2 HG03942.hp2 HG04199.hp2 HG04204.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp2 NA18978.hp1 NA19056.hp1 NA19063.hp2 NA19077.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0010 a0003c0003 others(1): Show a0001c0001 a0001c0010 a0003c0003 a0006c0004	a0001c0001t0001 a0001c0010t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0010t0001 a0003c0003t0001 a0006c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0010t0001g0002 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0010t0001g0002 a0003c0003t0001g0002 a0003c0003t0001g0036 a0006c0004t0001g0002	14	338	0.0414	-20	c.-17 others(31): Show c.-1713_-1694delAAAAAAAAAAAAAAAAAAAA	ACY1	ENSG00000243989.9	transcript	ENST00000636358.2	protein_coding		1640		chr3	TogoVar
ACYP1_chr14_75048243_75069024	75067182	TACACACA others(13): Show TACACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	322	0.0031	-20	c.-32 others(31): Show c.-3257_-3238delGTGTGTGTGTGTGTGTGTGT	ACYP1	ENSG00000119640.9	transcript	ENST00000238618.8	protein_coding		3159		chr14	TogoVar
ACYP2_chr2_53966113_54310300	53973853	ATATGTGT others(13): Show ATATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	272	0.0037	-20	c.62+ others(31): Show c.62+45_62+64delATGTGTGTGTGTGTGTGTGT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54013255	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	272	0.0037	-20	c.63- others(37): Show c.63-37661_63-37642delGTGTGTGTGTGTGTGTGTGT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54095490	CGGGGCGG others(13): Show CGGGGCGGCTGGCTGGGCGGG	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0015 a0002c0003t0005g0015	1	272	0.0037	-20	c.277 others(39): Show c.277+38134_277+38153delGCGGCTGGCTGGGCGGGGGG	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54102638	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	272	0.0037	-20	c.278 others(39): Show c.278-32798_278-32779delAAAAAAAAAAAAAAAAAAAA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54197935	ATGTATTA others(13): Show ATGTATTATATTGTATTGTAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02809.hp1 HG02886.hp1 others(5): Show HG01109.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG03098.hp2 HG03486.hp2 NA18906.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0002t0003	a0001c0001t0001g0105 a0001c0001t0001g0175 a0001c0001t0001g0219 others(5): Show a0001c0001t0001g0105 a0001c0001t0001g0175 a0001c0001t0001g0219 a0001c0001t0001g0270 a0001c0001t0004g0141 a0001c0001t0011g0126 a0001c0002t0003g0081 a0001c0002t0003g0102	8	272	0.0294	-20	c.404 others(39): Show c.404+59194_404+59213delATATTGTATTGTATTGTATT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54197942	ATATTGTA others(13): Show ATATTGTATTGTATTGTATTG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01071.hp1 others(32): Show HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01928.hp1 HG01952.hp1 HG02132.hp1 HG02155.hp2 HG02559.hp2 HG02630.hp1 HG02896.hp2 HG02976.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03669.hp2 HG04115.hp2 HG06807.hp2 NA18969.hp1 NA19043.hp2 NA19065.hp2 NA19070.hp1 NA19077.hp1 NA19080.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0009 a0001c0002t0013	a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0139 others(32): Show a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0247 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0004g0195 a0001c0001t0004g0272 a0001c0002t0002g0009 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0003g0070 a0001c0002t0003g0082 a0001c0002t0003g0083 a0001c0002t0003g0101 a0001c0002t0005g0062 a0001c0002t0009g0086 a0001c0002t0013g0040	35	272	0.1287	-20	c.404 others(39): Show c.404+59269_404+59288delGTATTGTATTGTATTGTATT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54202706	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp1 HG03195.hp2 HG02615.hp2 HG03130.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0002t0002g0061 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0002t0002g0061	3	272	0.0110	-20	c.404 others(39): Show c.404+63980_404+63999delTTTTTTTTTTTTTTTTTTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADA2_chr22_17173790_17224435	17222472	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01069.hp2 HG01192.hp2 others(3): Show HG00323.hp2 HG01069.hp2 HG01192.hp2 HG01943.hp2 HG02717.hp1 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0006 a0001c0003 a0002c0002 a0002c0006	a0001c0003t0004 a0001c0003t0010 a0002c0002t0003 others(3): Show a0001c0003t0004 a0001c0003t0010 a0002c0002t0003 a0002c0002t0044 a0002c0006t0003 a0002c0006t0008	a0001c0003t0004g0342 a0001c0003t0010g0088 a0002c0002t0003g0029 others(3): Show a0001c0003t0004g0342 a0001c0003t0010g0088 a0002c0002t0003g0029 a0002c0002t0044g0330 a0002c0006t0003g0087 a0002c0006t0008g0369	6	408	0.0147	-20	c.-31 others(31): Show c.-3183_-3164delTATATATATATATATACACA	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding		3038		chr22	TogoVar
ADAD1_chr4_122374011_122434784	122378285	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02922.hp1 HG03041.hp2 others(5): Show HG02559.hp1 HG02922.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0039 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0295	8	376	0.0213	-20	c.-91 others(29): Show c.-912_-893delAAAAAAAAAAAAAAAAAAAA	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding		725		chr4	TogoVar
ADAM10_chr15_58583809_58754707	58586916	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03453.hp1 HG03579.hp1 HG03225.hp2 HG03453.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0096 a0001c0001t0018g0097 a0001c0001t0018g0098 a0001c0001t0018g0096 a0001c0001t0018g0097 a0001c0001t0018g0098	3	342	0.0088	-20	c.10 others(33): Show c.10611_*10630delACACACACACACACACACAC	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding		1892		chr15	TogoVar
ADAM10_chr15_58583809_58754707	58685545	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0118	a0001c0001t0118g0065 a0001c0001t0118g0065	1	342	0.0029	-20	c.207 others(37): Show c.207-3251_207-3232delATATATATATATATATATAT	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM12_chr10_126007391_126393477	126049988	GTGGCTGG others(13): Show GTGGCTGGCTGGCTGGCTGGC	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0165 a0002c0006t0001g0165	1	252	0.0040	-20	c.161 others(37): Show c.1610-339_1610-320delGCCAGCCAGCCAGCCAGCCA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	14/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126051536	CCCATCCA others(13): Show CCCATCCATCCATCCATCCAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01243.hp1 HG02145.hp1 others(8): Show HG00423.hp2 HG01243.hp1 HG02145.hp1 HG02165.hp1 NA18944.hp2 NA18972.hp1 NA18983.hp2 NA18989.hp2 NA19002.hp2 NA19043.hp1 NA19084.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0001c0013 others(4): Show a0001c0002 a0001c0004 a0001c0013 a0001c0033 a0002c0001 a0002c0016 a0003c0029	a0001c0002t0017 a0001c0004t0017 a0001c0013t0001 others(5): Show a0001c0002t0017 a0001c0004t0017 a0001c0013t0001 a0001c0033t0001 a0002c0001t0017 a0002c0001t0032 a0002c0016t0001 a0003c0029t0005	a0001c0002t0017g0013 a0001c0004t0017g0131 a0001c0013t0001g0023 others(8): Show a0001c0002t0017g0013 a0001c0004t0017g0131 a0001c0013t0001g0023 a0001c0013t0001g0026 a0001c0013t0001g0027 a0001c0033t0001g0162 a0002c0001t0017g0156 a0002c0001t0032g0003 a0002c0016t0001g0056 a0002c0016t0001g0118 a0003c0029t0005g0037	11	252	0.0437	-20	c.161 others(39): Show c.1610-1887_1610-1868delATGGATGGATGGATGGATGG	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	14/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126113687	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0245 a0002c0017t0002g0245	1	252	0.0040	-20	c.604 others(37): Show c.604-3867_604-3848delATATATATATATATATATAT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	6/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126121161	TATACTAT others(13): Show TATACTATATATACTATATAC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0215 a0002c0006t0002g0215	1	252	0.0040	-20	c.417 others(37): Show c.417-2957_417-2938delGTATATAGTATATATAGTAT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	5/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126121500	ATATAATA others(13): Show ATATAATAGAAAATTATATAT	A A	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19070.hp1 NA18998.hp2 NA19070.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0026 a0002c0023t0026	a0002c0023t0026g0073 a0002c0023t0026g0229 a0002c0023t0026g0073 a0002c0023t0026g0229	2	252	0.0079	-20	c.417 others(37): Show c.417-3296_417-3277delATATATAATTTTCTATTATA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	5/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126159898	AGAGTTCT others(13): Show AGAGTTCTTAAGCACTGTGTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00597.hp2 others(27): Show HG00280.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01255.hp2 HG01346.hp1 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02145.hp1 HG02165.hp2 HG02258.hp2 HG02300.hp1 HG02486.hp2 HG02886.hp1 HG04228.hp1 NA18951.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp1 NA18994.hp2 NA19004.hp2 NA19011.hp2 NA19043.hp1 NA19090.hp1 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0014 a0015	a0001c0002 a0001c0003 a0001c0004 others(16): Show a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0014 a0001c0026 a0001c0032 a0001c0038 a0002c0001 a0002c0005 a0002c0007 a0002c0015 a0002c0016 a0002c0048 a0002c0052 a0003c0028 a0005c0025 a0014c0040 a0015c0035	a0001c0002t0017 a0001c0003t0003 a0001c0003t0010 others(22): Show a0001c0002t0017 a0001c0003t0003 a0001c0003t0010 a0001c0003t0016 a0001c0004t0041 a0001c0009t0015 a0001c0014t0003 a0001c0026t0001 a0001c0032t0008 a0001c0038t0009 a0002c0001t0001 a0002c0001t0005 a0002c0001t0017 a0002c0005t0007 a0002c0005t0009 a0002c0005t0030 a0002c0007t0002 a0002c0015t0004 a0002c0016t0001 a0002c0048t0025 a0002c0052t0003 a0003c0028t0019 a0005c0025t0024 a0014c0040t0001 a0015c0035t0003	a0001c0002t0017g0013 a0001c0003t0003g0091 a0001c0003t0010g0140 others(27): Show a0001c0002t0017g0013 a0001c0003t0003g0091 a0001c0003t0010g0140 a0001c0003t0016g0048 a0001c0004t0041g0040 a0001c0009t0015g0237 a0001c0014t0003g0090 a0001c0026t0001g0075 a0001c0032t0008g0184 a0001c0038t0009g0070 a0002c0001t0001g0124 a0002c0001t0001g0136 a0002c0001t0005g0232 a0002c0001t0017g0156 a0002c0005t0007g0111 a0002c0005t0007g0158 a0002c0005t0007g0199 a0002c0005t0009g0103 a0002c0005t0009g0227 a0002c0005t0030g0006 a0002c0007t0002g0117 a0002c0007t0002g0119 a0002c0015t0004g0198 a0002c0016t0001g0056 a0002c0048t0025g0110 a0002c0052t0003g0055 a0003c0028t0019g0039 a0005c0025t0024g0230 a0014c0040t0001g0063 a0015c0035t0003g0171	30	252	0.1191	-20	c.261 others(37): Show c.261-4613_261-4594delAACACAGTGCTTAAGAACTC	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126258384	TCCGTGCC others(13): Show TCCGTGCCCCACACGCCCCAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00423.hp1 others(75): Show HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01934.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG02965.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18747.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18961.hp1 NA18962.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19084.hp2 NA19090.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0013	a0001c0002 a0001c0003 a0001c0004 others(27): Show a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0019 a0001c0020 a0001c0031 a0001c0033 a0001c0034 a0001c0036 a0001c0038 a0002c0001 a0002c0005 a0002c0006 a0002c0007 a0002c0011 a0002c0016 a0002c0017 a0002c0023 a0002c0024 a0002c0048 a0002c0049 a0002c0052 a0003c0029 a0006c0044 a0013c0041	a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 others(52): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0019 a0001c0002t0039 a0001c0003t0003 a0001c0003t0007 a0001c0003t0012 a0001c0003t0034 a0001c0003t0035 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0041 a0001c0004t0047 a0001c0008t0002 a0001c0009t0007 a0001c0009t0015 a0001c0010t0001 a0001c0010t0002 a0001c0013t0001 a0001c0014t0003 a0001c0014t0009 a0001c0014t0010 a0001c0019t0018 a0001c0019t0044 a0001c0020t0050 a0001c0031t0002 a0001c0033t0001 a0001c0034t0001 a0001c0036t0003 a0001c0038t0009 a0002c0001t0001 a0002c0001t0005 a0002c0001t0006 a0002c0001t0032 a0002c0005t0009 a0002c0005t0010 a0002c0005t0012 a0002c0005t0016 a0002c0005t0036 a0002c0006t0001 a0002c0006t0005 a0002c0007t0002 a0002c0011t0009 a0002c0016t0001 a0002c0017t0002 a0002c0023t0026 a0002c0024t0012 a0002c0048t0025 a0002c0049t0004 a0002c0052t0003 a0003c0029t0005 a0006c0044t0042 a0013c0041t0004	a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0101 others(75): Show a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0101 a0001c0002t0001g0143 a0001c0002t0001g0212 a0001c0002t0005g0251 a0001c0002t0008g0211 a0001c0002t0019g0150 a0001c0002t0019g0188 a0001c0002t0039g0160 a0001c0003t0003g0025 a0001c0003t0003g0151 a0001c0003t0003g0195 a0001c0003t0007g0033 a0001c0003t0012g0134 a0001c0003t0034g0127 a0001c0003t0035g0084 a0001c0004t0001g0036 a0001c0004t0002g0034 a0001c0004t0002g0161 a0001c0004t0004g0093 a0001c0004t0041g0040 a0001c0004t0047g0152 a0001c0008t0002g0153 a0001c0008t0002g0192 a0001c0009t0007g0138 a0001c0009t0015g0237 a0001c0010t0001g0216 a0001c0010t0002g0128 a0001c0013t0001g0026 a0001c0013t0001g0027 a0001c0014t0003g0090 a0001c0014t0009g0095 a0001c0014t0010g0064 a0001c0019t0018g0203 a0001c0019t0044g0182 a0001c0020t0050g0187 a0001c0031t0002g0181 a0001c0033t0001g0162 a0001c0034t0001g0202 a0001c0036t0003g0100 a0001c0038t0009g0070 a0002c0001t0001g0050 a0002c0001t0001g0057 a0002c0001t0001g0062 a0002c0001t0001g0114 a0002c0001t0001g0115 a0002c0001t0001g0124 a0002c0001t0001g0125 a0002c0001t0001g0166 a0002c0001t0001g0225 a0002c0001t0005g0053 a0002c0001t0005g0080 a0002c0001t0005g0102 a0002c0001t0006g0197 a0002c0001t0032g0003 a0002c0005t0009g0231 a0002c0005t0010g0059 a0002c0005t0012g0058 a0002c0005t0016g0243 a0002c0005t0036g0246 a0002c0006t0001g0109 a0002c0006t0005g0154 a0002c0006t0005g0241 a0002c0007t0002g0117 a0002c0007t0002g0119 a0002c0011t0009g0054 a0002c0016t0001g0056 a0002c0016t0001g0118 a0002c0017t0002g0061 a0002c0023t0026g0229 a0002c0024t0012g0121 a0002c0048t0025g0110 a0002c0049t0004g0071 a0002c0052t0003g0055 a0003c0029t0005g0037 a0006c0044t0042g0175 a0013c0041t0004g0015	78	252	0.3095	-20	c.260 others(39): Show c.260+20511_260+20530delGTGGGGCGTGTGGGGCACGG	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar
ADAM17_chr2_9483486_9560830	9487817	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG03041.hp2 HG03130.hp1 HG01884.hp2 HG03041.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0043 a0001c0001t0020g0044 a0001c0001t0020g0046 a0001c0001t0020g0043 a0001c0001t0020g0044 a0001c0001t0020g0046	3	234	0.0128	-20	c.23 others(31): Show c.2340_*2359delGCGCACACACACACACACAC	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding		668		chr2	TogoVar
ADAM17_chr2_9483486_9560830	9514518	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG01099.hp2 others(12): Show HG00621.hp1 HG00621.hp2 HG01099.hp2 HG02055.hp1 HG02886.hp1 HG02895.hp2 HG03139.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 NA18950.hp2 NA19007.hp1 NA19030.hp2 NA19070.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0007 a0001c0001t0009 a0001c0001t0023 others(7): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0023 a0001c0001t0031 a0001c0001t0033 a0001c0001t0070 a0001c0002t0002 a0001c0002t0010 a0001c0002t0077 a0002c0003t0048	a0001c0001t0007g0106 a0001c0001t0009g0136 a0001c0001t0023g0036 others(12): Show a0001c0001t0007g0106 a0001c0001t0009g0136 a0001c0001t0023g0036 a0001c0001t0023g0037 a0001c0001t0031g0102 a0001c0001t0031g0103 a0001c0001t0033g0108 a0001c0001t0033g0109 a0001c0001t0070g0041 a0001c0002t0002g0187 a0001c0002t0002g0202 a0001c0002t0010g0183 a0001c0002t0010g0200 a0001c0002t0077g0201 a0002c0003t0048g0052	15	234	0.0641	-20	c.119 others(39): Show c.1191+3363_1191+3382delATATATATATATATATATAT	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	10/18			chr2	TogoVar

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