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
ACTRT1_chrX_128045962_128057403	128050927	CAT CAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	285	0.0035	-2	c.14 others(11): Show c.147_*148delAT	ACTRT1	ENSG00000123165.9	transcript	ENST00000371124.5	protein_coding		34		chrX	TogoVar
ACTRT2_chr1_3016467_3027903	3023852	CGT CGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02257.hp2 others(9): Show HG01243.hp1 HG01884.hp2 HG02257.hp2 HG02258.hp2 HG02622.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0000 a0004c0005t0001g0000 a0001c0001t0001g0000 a0004c0005t0001g0000	12	366	0.0328	-2	c.10 others(13): Show c.1033_*1034delGT	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		950		chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3027626	CGG CGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00673.hp1 HG00733.hp1 others(25): Show HG00140.hp1 HG00673.hp1 HG00733.hp1 HG01070.hp1 HG01255.hp1 HG01256.hp2 HG01346.hp1 HG01515.hp1 HG01517.hp1 HG02004.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02965.hp1 HG02965.hp2 HG03139.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 NA18522.hp1 NA18612.hp1 NA18941.hp2 NA18942.hp1 NA18991.hp2 NA19240.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0005c0006	a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 a0005c0006t0001	a0001c0001t0001g0000 a0001c0007t0001g0000 a0002c0002t0001g0000 others(1): Show a0001c0001t0001g0000 a0001c0007t0001g0000 a0002c0002t0001g0000 a0005c0006t0001g0000	28	366	0.0765	-2	c.48 others(13): Show c.4807_*4808delGG	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4724		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770208	AAT AAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02622.hp1 HG02896.hp2 others(1): Show HG02451.hp2 HG02622.hp1 HG02896.hp2 HG02965.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0012 a0002c0004t0001g0032 a0002c0004t0001g0012 a0002c0004t0001g0032	4	418	0.0096	-2	c.-69 others(11): Show c.-690_-689delAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		648		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770268	AAT AAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02145.hp1 HG02809.hp1 others(2): Show HG01109.hp1 HG02145.hp1 HG02809.hp1 HG03710.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0042 a0001c0001t0003g0010 a0001c0001t0001g0042 a0001c0001t0003g0010	5	418	0.0120	-2	c.-75 others(11): Show c.-750_-749delAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		708		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770737	CAT CAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02922.hp2 HG02976.hp1 others(2): Show HG01243.hp2 HG02922.hp2 HG02976.hp1 HG03130.hp1 NA18966.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0045 a0003c0003t0001g0009 a0001c0001t0001g0045 a0003c0003t0001g0009	5	418	0.0120	-2	c.-12 others(13): Show c.-1219_-1218delAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1177		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771174	AAT AAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02572.hp2 HG02602.hp2 others(2): Show HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0004 a0002c0002t0001g0008	5	418	0.0120	-2	c.-16 others(13): Show c.-1656_-1655delAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1614		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771205	AAT AAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02572.hp2 HG02630.hp1 others(1): Show HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	4	418	0.0096	-2	c.-16 others(13): Show c.-1687_-1686delAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1645		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771236	AAT AAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02572.hp2 HG02630.hp1 others(2): Show HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02976.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0037 a0002c0002t0001g0008 a0002c0002t0001g0037	5	418	0.0120	-2	c.-17 others(13): Show c.-1718_-1717delAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1676		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771267	AAT AAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02572.hp2 HG02630.hp1 others(3): Show HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02809.hp1 HG02976.hp2 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0010 a0002c0002t0001g0008 a0002c0002t0001g0037 a0001c0001t0003g0010 a0002c0002t0001g0008 a0002c0002t0001g0037	6	418	0.0144	-2	c.-17 others(13): Show c.-1749_-1748delAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1707		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771327	TAA TAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 NA19064.hp2 NA20129.hp1 HG02027.hp2 NA19064.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0001 a0001c0001t0001g0038	3	418	0.0072	-2	c.-18 others(13): Show c.-1809_-1808delTT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1767		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771367	TTA TTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00639.hp2 HG01192.hp2 others(33): Show HG00597.hp2 HG00639.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01891.hp1 HG01943.hp1 HG01993.hp1 HG02027.hp2 HG02055.hp2 HG02258.hp2 HG02523.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03490.hp2 HG03834.hp1 NA18965.hp1 NA18966.hp2 NA18969.hp2 NA18978.hp2 NA18980.hp2 NA18986.hp2 NA18989.hp1 NA18992.hp1 NA18998.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp2 NA19083.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0043 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0043 a0003c0003t0001g0007 a0003c0003t0001g0009 a0003c0003t0001g0021 a0003c0003t0001g0046	36	418	0.0861	-2	c.-18 others(13): Show c.-1849_-1848delTA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1807		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771385	AAT AAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00639.hp2 HG01192.hp2 others(31): Show HG00597.hp2 HG00639.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01891.hp1 HG01943.hp1 HG01993.hp1 HG02027.hp2 HG02055.hp2 HG02258.hp2 HG02523.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03490.hp2 HG03834.hp1 NA18965.hp1 NA18966.hp2 NA18969.hp2 NA18978.hp2 NA18980.hp2 NA18986.hp2 NA18989.hp1 NA18992.hp1 NA18998.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp2 NA19083.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0043 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0043 a0003c0003t0001g0007 a0003c0003t0001g0009 a0003c0003t0001g0021 a0003c0003t0001g0046	34	418	0.0813	-2	c.-18 others(13): Show c.-1867_-1866delAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1825		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169772316	CTT CTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01891.hp1 HG01934.hp2 others(22): Show HG01081.hp2 HG01891.hp1 HG01934.hp2 HG01981.hp1 HG02004.hp2 HG02148.hp1 HG02257.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02818.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03471.hp1 HG03486.hp1 HG03834.hp1 NA18980.hp1 NA19030.hp1 NA19074.hp2 NA19086.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0042 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0042 a0002c0002t0001g0008 a0002c0002t0001g0047 a0002c0004t0001g0012 a0003c0003t0001g0007	25	418	0.0598	-2	c.-27 others(13): Show c.-2798_-2797delAA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		2756		chr3	TogoVar
ACVR1B_chr12_51946699_52002078	51948899	TAG TAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 NA19043.hp2 HG02896.hp1 HG02897.hp1 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0028 a0001c0004t0013g0261 a0001c0004t0013g0028 a0001c0004t0013g0261	3	324	0.0093	-2	c.-28 others(13): Show c.-2844_-2843delAG	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding		2799		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51957441	CAA CAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp2 HG02896.hp2 others(7): Show HG02647.hp1 HG02895.hp2 HG02896.hp2 HG03209.hp2 HG03225.hp2 HG03516.hp2 HG03579.hp1 NA19002.hp1 NA19043.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0021 a0001c0001t0026 others(1): Show a0001c0001t0002 a0001c0001t0021 a0001c0001t0026 a0001c0005t0020	a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 others(7): Show a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0279 a0001c0001t0021g0287 a0001c0001t0026g0278 a0001c0005t0020g0280 a0001c0005t0020g0281	10	324	0.0309	-2	c.91+ others(17): Show c.91+5625_91+5626delAA	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51974508	CGT CGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00438.hp2 others(132): Show HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01993.hp2 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02165.hp2 HG02280.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp2 NA18978.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA19002.hp1 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19077.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(12): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0026 a0001c0001t0031 a0001c0003t0002 a0001c0004t0013 a0001c0007t0002	a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 others(117): Show a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0125 a0001c0001t0002g0142 a0001c0001t0002g0259 a0001c0001t0003g0005 a0001c0001t0003g0014 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0171 a0001c0001t0005g0002 a0001c0001t0005g0007 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0103 a0001c0001t0007g0013 a0001c0001t0007g0115 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0124 a0001c0001t0007g0128 a0001c0001t0007g0257 a0001c0001t0007g0258 a0001c0001t0010g0054 a0001c0001t0010g0066 a0001c0001t0010g0067 a0001c0001t0010g0068 a0001c0001t0010g0069 a0001c0001t0010g0073 a0001c0001t0011g0140 a0001c0001t0011g0146 a0001c0001t0011g0147 a0001c0001t0014g0038 a0001c0001t0014g0039 a0001c0001t0014g0087 a0001c0001t0018g0113 a0001c0001t0018g0114 a0001c0001t0019g0075 a0001c0001t0022g0273 a0001c0001t0026g0278 a0001c0001t0031g0044 a0001c0003t0002g0012 a0001c0003t0002g0110 a0001c0004t0013g0028 a0001c0004t0013g0261 a0001c0007t0002g0079	135	324	0.4167	-2	c.92- others(15): Show c.92-743_92-742delTG	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51991424	CAG CAG	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01192.hp1 others(18): Show HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01978.hp1 NA18747.hp2 NA18944.hp1 NA18956.hp2 NA18963.hp1 NA18972.hp2 NA18974.hp2 NA18990.hp1 NA19004.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA19090.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0031 a0001c0001t0002 a0001c0001t0031	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 others(15): Show a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0048 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0031g0044	21	324	0.0648	-2	c.126 others(19): Show c.1262-436_1262-435delAG	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51993765	TAA TAA	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02559.hp2 HG02717.hp2 others(9): Show HG02129.hp1 HG02559.hp2 HG02717.hp2 HG02809.hp1 HG03130.hp1 HG03195.hp2 HG03516.hp2 NA18612.hp1 NA18955.hp1 NA19000.hp1 NA19010.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0028 a0001c0002t0002 a0001c0002t0019	a0001c0001t0001g0176 a0001c0001t0001g0203 a0001c0001t0001g0206 others(8): Show a0001c0001t0001g0176 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0222 a0001c0001t0001g0255 a0001c0001t0001g0260 a0001c0001t0002g0032 a0001c0001t0018g0113 a0001c0001t0028g0209 a0001c0002t0002g0004 a0001c0002t0019g0004	12	324	0.0370	-2	c.139 others(19): Show c.1393-182_1393-181delAA	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR1C_chr2_157521767_157633864	157523232	GAA GAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01168.hp1 HG01169.hp2 others(41): Show HG00741.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01891.hp1 HG01943.hp2 HG01975.hp1 HG02109.hp2 HG02273.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG06807.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0008 a0002c0011 a0002c0013	a0001c0001t0001 a0001c0002t0005 a0002c0003t0002 others(12): Show a0001c0001t0001 a0001c0002t0005 a0002c0003t0002 a0002c0003t0005 a0002c0003t0009 a0002c0003t0010 a0002c0003t0017 a0002c0003t0020 a0002c0003t0021 a0002c0004t0002 a0002c0004t0010 a0002c0008t0002 a0002c0008t0027 a0002c0011t0002 a0002c0013t0010	a0001c0001t0001g0157 a0001c0002t0005g0033 a0002c0003t0002g0006 others(41): Show a0001c0001t0001g0157 a0001c0002t0005g0033 a0002c0003t0002g0006 a0002c0003t0002g0010 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0024 a0002c0003t0002g0029 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0039 a0002c0003t0002g0040 a0002c0003t0002g0043 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0057 a0002c0003t0002g0060 a0002c0003t0002g0120 a0002c0003t0002g0124 a0002c0003t0002g0131 a0002c0003t0005g0008 a0002c0003t0005g0076 a0002c0003t0005g0077 a0002c0003t0005g0078 a0002c0003t0005g0079 a0002c0003t0009g0025 a0002c0003t0009g0026 a0002c0003t0009g0036 a0002c0003t0009g0066 a0002c0003t0009g0067 a0002c0003t0010g0031 a0002c0003t0010g0090 a0002c0003t0017g0214 a0002c0003t0017g0215 a0002c0003t0020g0083 a0002c0003t0021g0096 a0002c0004t0002g0099 a0002c0004t0002g0100 a0002c0004t0002g0204 a0002c0004t0010g0190 a0002c0008t0002g0106 a0002c0008t0027g0105 a0002c0011t0002g0011 a0002c0013t0010g0052	44	216	0.2037	-2	c.10 others(15): Show c.10684_*10685delTT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding		3534		chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157524074	CTA CTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG03471.hp1 HG02280.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0191 a0001c0001t0012g0192 a0001c0001t0012g0191 a0001c0001t0012g0192	2	216	0.0093	-2	c.98 others(13): Show c.9842_*9843delTA	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding		2692		chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157535143	CAA CAA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01192.hp2 others(41): Show HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp1 HG02273.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp2 NA19043.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0005 others(3): Show a0002c0003 a0002c0004 a0002c0005 a0002c0008 a0002c0011 a0002c0013	a0002c0003t0002 a0002c0003t0008 a0002c0003t0009 others(16): Show a0002c0003t0002 a0002c0003t0008 a0002c0003t0009 a0002c0003t0010 a0002c0003t0013 a0002c0003t0017 a0002c0003t0020 a0002c0003t0021 a0002c0003t0026 a0002c0004t0002 a0002c0004t0008 a0002c0004t0010 a0002c0004t0013 a0002c0005t0008 a0002c0005t0009 a0002c0008t0002 a0002c0008t0027 a0002c0011t0002 a0002c0013t0010	a0002c0003t0002g0010 a0002c0003t0002g0022 a0002c0003t0002g0023 others(41): Show a0002c0003t0002g0010 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0024 a0002c0003t0002g0029 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0039 a0002c0003t0002g0040 a0002c0003t0002g0043 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0057 a0002c0003t0002g0120 a0002c0003t0002g0124 a0002c0003t0002g0131 a0002c0003t0008g0012 a0002c0003t0008g0028 a0002c0003t0008g0080 a0002c0003t0008g0097 a0002c0003t0009g0026 a0002c0003t0009g0036 a0002c0003t0009g0066 a0002c0003t0009g0067 a0002c0003t0010g0031 a0002c0003t0010g0090 a0002c0003t0013g0050 a0002c0003t0017g0214 a0002c0003t0017g0215 a0002c0003t0020g0083 a0002c0003t0021g0096 a0002c0003t0026g0107 a0002c0004t0002g0099 a0002c0004t0002g0204 a0002c0004t0008g0183 a0002c0004t0010g0190 a0002c0004t0013g0018 a0002c0005t0008g0004 a0002c0005t0008g0005 a0002c0005t0009g0009 a0002c0008t0002g0106 a0002c0008t0027g0105 a0002c0011t0002g0011 a0002c0013t0010g0052	44	216	0.2037	-2	c.135 others(21): Show c.1357-1102_1357-1101delTT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	8/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157538971	CAT CAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03471.hp2 NA21309.hp2 HG02109.hp1 HG03471.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0011 a0001c0009t0011 a0001c0001t0011 a0001c0009t0011	a0001c0001t0011g0165 a0001c0001t0011g0166 a0001c0009t0011g0158 a0001c0001t0011g0165 a0001c0001t0011g0166 a0001c0009t0011g0158	3	216	0.0139	-2	c.122 others(19): Show c.1226-270_1226-269delAT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	7/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157544202	ATT ATT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp2 HG02622.hp2 others(3): Show HG02280.hp1 HG02615.hp2 HG02622.hp2 HG02809.hp1 HG03098.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0036 a0001c0002t0001 others(1): Show a0001c0001t0012 a0001c0001t0036 a0001c0002t0001 a0001c0002t0016	a0001c0001t0012g0191 a0001c0001t0012g0192 a0001c0001t0036g0185 others(3): Show a0001c0001t0012g0191 a0001c0001t0012g0192 a0001c0001t0036g0185 a0001c0002t0001g0030 a0001c0002t0016g0037 a0001c0002t0016g0038	6	216	0.0278	-2	c.943 others(17): Show c.943+241_943+242delAA	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	5/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157550521	AAT AAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG02109.hp2 others(7): Show HG01168.hp1 HG01169.hp2 HG02109.hp2 HG02559.hp1 HG02572.hp2 HG02886.hp2 HG03486.hp2 HG03579.hp1 NA18522.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0005 a0001c0002 a0002c0003 a0002c0005	a0001c0002t0023 a0002c0003t0006 a0002c0003t0009 others(4): Show a0001c0002t0023 a0002c0003t0006 a0002c0003t0009 a0002c0003t0013 a0002c0003t0021 a0002c0003t0026 a0002c0005t0009	a0001c0002t0023g0007 a0002c0003t0006g0082 a0002c0003t0009g0025 others(7): Show a0001c0002t0023g0007 a0002c0003t0006g0082 a0002c0003t0009g0025 a0002c0003t0009g0026 a0002c0003t0009g0066 a0002c0003t0009g0067 a0002c0003t0013g0050 a0002c0003t0021g0096 a0002c0003t0026g0107 a0002c0005t0009g0009	10	216	0.0463	-2	c.545 others(17): Show c.545-131_545-130delAT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157555101	CTT CTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(37): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00639.hp1 HG00642.hp2 HG01074.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG02004.hp2 HG02257.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA19043.hp2 NA19062.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(17): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0015 a0001c0002t0019 a0001c0002t0023 a0001c0002t0031 a0001c0002t0037 a0001c0007t0012 a0001c0007t0025 a0002c0003t0002 a0002c0003t0006 a0002c0003t0008 a0002c0003t0009 a0002c0003t0010 a0002c0003t0014 a0002c0003t0017	a0001c0001t0001g0195 a0001c0001t0005g0213 a0001c0001t0007g0197 others(36): Show a0001c0001t0001g0195 a0001c0001t0005g0213 a0001c0001t0007g0197 a0001c0002t0001g0032 a0001c0002t0001g0055 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0075 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0094 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0003g0062 a0001c0002t0003g0071 a0001c0002t0003g0093 a0001c0002t0003g0111 a0001c0002t0007g0001 a0001c0002t0007g0054 a0001c0002t0007g0072 a0001c0002t0007g0140 a0001c0002t0015g0141 a0001c0002t0019g0091 a0001c0002t0023g0007 a0001c0002t0031g0087 a0001c0002t0037g0070 a0001c0007t0012g0089 a0001c0007t0025g0084 a0002c0003t0002g0029 a0002c0003t0006g0081 a0002c0003t0006g0103 a0002c0003t0008g0080 a0002c0003t0008g0097 a0002c0003t0009g0066 a0002c0003t0009g0067 a0002c0003t0010g0031 a0002c0003t0010g0090 a0002c0003t0014g0086 a0002c0003t0017g0215	40	216	0.1852	-2	c.544 others(17): Show c.544+990_544+991delAA	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157562871	CAT CAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(51): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01074.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01358.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01978.hp1 HG02004.hp2 HG02055.hp1 HG02257.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02818.hp1 HG02895.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03710.hp1 HG03927.hp2 HG04115.hp2 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA19043.hp2 NA19062.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(20): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0015 a0001c0002t0018 a0001c0002t0019 a0001c0002t0023 a0001c0002t0031 a0001c0002t0037 a0001c0007t0012 a0001c0007t0025 a0002c0003t0002 a0002c0003t0006 a0002c0003t0008 a0002c0003t0009 a0002c0003t0010 a0002c0003t0014 a0002c0003t0017 a0002c0003t0020	a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0005g0213 others(50): Show a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0005g0213 a0001c0001t0007g0197 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0094 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0003g0059 a0001c0002t0003g0062 a0001c0002t0003g0071 a0001c0002t0003g0093 a0001c0002t0003g0111 a0001c0002t0005g0095 a0001c0002t0007g0001 a0001c0002t0007g0054 a0001c0002t0007g0065 a0001c0002t0007g0072 a0001c0002t0007g0140 a0001c0002t0015g0053 a0001c0002t0015g0141 a0001c0002t0018g0061 a0001c0002t0019g0091 a0001c0002t0023g0007 a0001c0002t0031g0087 a0001c0002t0037g0070 a0001c0007t0012g0089 a0001c0007t0025g0084 a0002c0003t0002g0060 a0002c0003t0006g0081 a0002c0003t0006g0082 a0002c0003t0006g0092 a0002c0003t0006g0102 a0002c0003t0006g0103 a0002c0003t0006g0104 a0002c0003t0008g0080 a0002c0003t0008g0097 a0002c0003t0009g0066 a0002c0003t0009g0067 a0002c0003t0010g0090 a0002c0003t0014g0086 a0002c0003t0017g0214 a0002c0003t0017g0215 a0002c0003t0020g0083	54	216	0.2500	-2	c.305 others(19): Show c.305-6541_305-6540delAT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	2/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157588236	TAC TAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01261.hp1 HG02145.hp1 others(3): Show HG00741.hp1 HG01261.hp1 HG02145.hp1 HG02559.hp1 HG02976.hp2 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0008 a0001c0002 a0002c0003 a0002c0008	a0001c0002t0004 a0002c0003t0002 a0002c0003t0006 others(2): Show a0001c0002t0004 a0002c0003t0002 a0002c0003t0006 a0002c0003t0026 a0002c0008t0027	a0001c0002t0004g0122 a0002c0003t0002g0006 a0002c0003t0002g0060 others(3): Show a0001c0002t0004g0122 a0002c0003t0002g0006 a0002c0003t0002g0060 a0002c0003t0006g0109 a0002c0003t0026g0107 a0002c0008t0027g0105	6	216	0.0278	-2	c.74- others(15): Show c.74-821_74-820delGT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	1/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157588848	CAT CAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp2 HG01943.hp1 others(13): Show HG00639.hp2 HG01106.hp2 HG01943.hp1 HG01975.hp2 HG02004.hp1 HG02109.hp1 HG02615.hp2 HG02738.hp2 HG03471.hp2 HG03579.hp2 NA18747.hp1 NA18971.hp1 NA18974.hp1 NA18988.hp2 NA18990.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0030 a0001c0001t0034 a0001c0001t0036 a0002c0004t0008 a0002c0004t0010	a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 others(13): Show a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0207 a0001c0001t0003g0153 a0001c0001t0003g0162 a0001c0001t0003g0182 a0001c0001t0003g0209 a0001c0001t0004g0184 a0001c0001t0011g0165 a0001c0001t0011g0166 a0001c0001t0030g0098 a0001c0001t0034g0144 a0001c0001t0036g0185 a0002c0004t0008g0183 a0002c0004t0010g0190	16	216	0.0741	-2	c.74- others(17): Show c.74-1433_74-1432delAT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	1/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157588889	GTA GTA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG02559.hp1 others(2): Show HG02145.hp1 HG02486.hp2 HG02559.hp1 HG02976.hp2 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0008 a0001c0002 a0002c0003 a0002c0008	a0001c0002t0024 a0002c0003t0006 a0002c0003t0026 others(2): Show a0001c0002t0024 a0002c0003t0006 a0002c0003t0026 a0002c0008t0002 a0002c0008t0027	a0001c0002t0024g0108 a0002c0003t0006g0109 a0002c0003t0026g0107 others(2): Show a0001c0002t0024g0108 a0002c0003t0006g0109 a0002c0003t0026g0107 a0002c0008t0002g0106 a0002c0008t0027g0105	5	216	0.0232	-2	c.74- others(17): Show c.74-1474_74-1473delTA	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	1/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157629587	TAC TAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01168.hp1 others(22): Show HG00642.hp2 HG00741.hp2 HG01168.hp1 HG01169.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG02055.hp1 HG02257.hp2 HG02622.hp2 HG02886.hp2 HG02895.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18988.hp2 NA19043.hp2 NA19084.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0007 a0001c0002t0016 a0001c0002t0031 a0001c0007t0012 a0002c0003t0006 a0002c0003t0008 a0002c0003t0009 a0002c0003t0013 a0002c0003t0020 a0002c0003t0021	a0001c0001t0001g0187 a0001c0001t0001g0211 a0001c0001t0004g0184 others(21): Show a0001c0001t0001g0187 a0001c0001t0001g0211 a0001c0001t0004g0184 a0001c0002t0001g0030 a0001c0002t0001g0069 a0001c0002t0001g0085 a0001c0002t0001g0101 a0001c0002t0001g0127 a0001c0002t0007g0001 a0001c0002t0007g0140 a0001c0002t0016g0038 a0001c0002t0031g0087 a0001c0007t0012g0089 a0002c0003t0006g0082 a0002c0003t0006g0102 a0002c0003t0006g0103 a0002c0003t0006g0104 a0002c0003t0008g0028 a0002c0003t0008g0080 a0002c0003t0009g0066 a0002c0003t0009g0067 a0002c0003t0013g0050 a0002c0003t0020g0083 a0002c0003t0021g0096	25	216	0.1157	-2	c.-94 others(11): Show c.-945_-944delGT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding		724		chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157630594	CAA CAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00621.hp2 others(33): Show HG00544.hp1 HG00558.hp2 HG00621.hp2 HG01192.hp2 HG01256.hp2 HG01361.hp2 HG01433.hp1 HG01943.hp2 HG01975.hp1 HG02145.hp1 HG02273.hp1 HG02615.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG06807.hp1 NA18612.hp1 NA18974.hp2 NA18998.hp2 NA19009.hp2 NA19064.hp1 NA19076.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0008 a0002c0011	a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 others(12): Show a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0002c0003t0002 a0002c0003t0005 a0002c0003t0006 a0002c0003t0008 a0002c0003t0017 a0002c0003t0021 a0002c0004t0002 a0002c0008t0002 a0002c0008t0027 a0002c0011t0002	a0001c0001t0003g0058 a0001c0001t0005g0164 a0001c0002t0001g0116 others(33): Show a0001c0001t0003g0058 a0001c0001t0005g0164 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0136 a0001c0002t0003g0115 a0001c0002t0004g0125 a0001c0002t0004g0130 a0001c0002t0004g0134 a0001c0002t0004g0137 a0002c0003t0002g0010 a0002c0003t0002g0039 a0002c0003t0002g0040 a0002c0003t0002g0043 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0057 a0002c0003t0002g0120 a0002c0003t0002g0124 a0002c0003t0005g0076 a0002c0003t0005g0077 a0002c0003t0005g0078 a0002c0003t0005g0079 a0002c0003t0006g0109 a0002c0003t0008g0012 a0002c0003t0017g0214 a0002c0003t0017g0215 a0002c0003t0021g0096 a0002c0004t0002g0099 a0002c0004t0002g0100 a0002c0008t0002g0106 a0002c0008t0027g0105 a0002c0011t0002g0011	36	216	0.1667	-2	c.-19 others(13): Show c.-1952_-1951delTT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding		1731		chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157632857	CTT CTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp2 others(82): Show HG00099.hp2 HG00280.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00642.hp1 HG00741.hp2 HG01074.hp1 HG01106.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01358.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18949.hp2 NA18970.hp2 NA18971.hp2 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19043.hp1 NA19062.hp1 NA19072.hp1 NA19072.hp2 NA19084.hp1 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(4): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003 a0002c0004 a0002c0005 a0002c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(30): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0015 a0001c0002t0016 a0001c0002t0024 a0001c0009t0011 a0002c0003t0002 a0002c0003t0006 a0002c0003t0008 a0002c0003t0009 a0002c0003t0010 a0002c0003t0026 a0002c0004t0002 a0002c0004t0006 a0002c0004t0008 a0002c0004t0013 a0002c0005t0009 a0002c0008t0002 a0002c0008t0027	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(82): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0171 a0001c0001t0003g0176 a0001c0001t0003g0181 a0001c0001t0003g0189 a0001c0001t0003g0212 a0001c0001t0004g0172 a0001c0001t0005g0149 a0001c0001t0005g0155 a0001c0001t0005g0213 a0001c0001t0011g0165 a0001c0001t0011g0166 a0001c0001t0012g0191 a0001c0001t0012g0192 a0001c0001t0029g0014 a0001c0001t0032g0169 a0001c0001t0033g0194 a0001c0001t0034g0144 a0001c0001t0035g0142 a0001c0001t0036g0185 a0001c0002t0001g0030 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0121 a0001c0002t0001g0132 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0208 a0001c0002t0003g0021 a0001c0002t0003g0123 a0001c0002t0004g0113 a0001c0002t0004g0122 a0001c0002t0005g0033 a0001c0002t0015g0141 a0001c0002t0016g0037 a0001c0002t0016g0038 a0001c0002t0024g0108 a0001c0009t0011g0158 a0002c0003t0002g0023 a0002c0003t0002g0029 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0006g0109 a0002c0003t0008g0028 a0002c0003t0009g0025 a0002c0003t0009g0026 a0002c0003t0009g0036 a0002c0003t0010g0031 a0002c0003t0026g0107 a0002c0004t0002g0100 a0002c0004t0006g0160 a0002c0004t0008g0183 a0002c0004t0013g0018 a0002c0005t0009g0009 a0002c0008t0002g0106 a0002c0008t0027g0105	85	216	0.3935	-2	c.-42 others(13): Show c.-4215_-4214delAA	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding		3994		chr2	TogoVar
ACVR1_chr2_157731446_157881330	157746366	CAG CAG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show HG02257.hp1 HG02922.hp1 HG03098.hp1 HG03209.hp2 HG03516.hp1 HG03540.hp1 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0009 a0001c0004t0021 a0001c0004t0008 a0001c0004t0009 a0001c0004t0021	a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 a0001c0004t0009g0083 a0001c0004t0009g0161 a0001c0004t0009g0162 a0001c0004t0021g0171	7	174	0.0402	-2	c.126 others(21): Show c.1265-7798_1265-7797delCT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	9/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157757043	TAA TAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01255.hp1 HG01891.hp2 others(55): Show HG00438.hp2 HG01255.hp1 HG01891.hp2 HG01978.hp1 HG02055.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG06807.hp1 NA18906.hp1 NA18942.hp2 NA18956.hp1 NA18963.hp2 NA18980.hp2 NA18981.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19088.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0014 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0011 a0001c0002t0015 a0001c0002t0018	a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0052 others(55): Show a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0137 a0001c0001t0014g0087 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0066 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0107 a0001c0002t0001g0125 a0001c0002t0001g0134 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0003g0130 a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0158 a0001c0002t0004g0169 a0001c0002t0004g0170 a0001c0002t0004g0173 a0001c0002t0005g0006 a0001c0002t0011g0009 a0001c0002t0011g0010 a0001c0002t0015g0096 a0001c0002t0018g0148	58	174	0.3333	-2	c.126 others(21): Show c.1264+3835_1264+3836delTT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	9/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157765480	ACT ACT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03927.hp2 HG00099.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0080 a0001c0001t0013g0165 a0001c0001t0002g0080 a0001c0001t0013g0165	2	174	0.0115	-2	c.106 others(19): Show c.1066+439_1066+440delAG	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	8/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157767033	CTT CTT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02257.hp1 others(13): Show HG01168.hp1 HG01169.hp1 HG02257.hp1 HG02559.hp1 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03209.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG04228.hp1 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0005 a0001c0003 a0001c0004 a0001c0005	a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 others(7): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0004t0008 a0001c0004t0009 a0001c0004t0021 a0001c0005t0001 a0001c0005t0003 a0001c0005t0005	a0001c0003t0001g0023 a0001c0003t0001g0136 a0001c0003t0003g0144 others(13): Show a0001c0003t0001g0023 a0001c0003t0001g0136 a0001c0003t0003g0144 a0001c0003t0004g0167 a0001c0003t0005g0007 a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 a0001c0004t0009g0083 a0001c0004t0009g0161 a0001c0004t0009g0162 a0001c0004t0021g0171 a0001c0005t0001g0064 a0001c0005t0001g0157 a0001c0005t0003g0138 a0001c0005t0005g0004	16	174	0.0920	-2	c.791 others(17): Show c.791-839_791-838delAA	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	7/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157795377	AAC AAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02976.hp2 HG03098.hp2 others(11): Show HG02145.hp2 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03491.hp1 HG03492.hp2 HG03704.hp2 HG03927.hp1 NA18951.hp1 NA18965.hp2 NA18978.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0017 a0001c0006t0006	a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0037 others(11): Show a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0059 a0001c0002t0001g0066 a0001c0002t0001g0124 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0004g0169 a0001c0002t0004g0172 a0001c0002t0017g0122 a0001c0006t0006g0022 a0001c0006t0006g0121	14	174	0.0805	-2	c.67+ others(17): Show c.67+4048_67+4049delGT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	3/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157819077	CAA CAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(83): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00735.hp2 HG01074.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02451.hp2 HG02559.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp2 NA18954.hp1 NA18956.hp1 NA18960.hp2 NA18963.hp2 NA18965.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19074.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0015 a0001c0002t0020 a0001c0003t0001 a0001c0003t0003 a0001c0004t0008 a0001c0004t0009 a0001c0004t0021 a0001c0005t0001 a0001c0005t0005 a0001c0006t0006	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(83): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0086 a0001c0001t0002g0092 a0001c0001t0002g0097 a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0126 a0001c0001t0002g0141 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0007g0076 a0001c0001t0010g0003 a0001c0001t0012g0011 a0001c0001t0013g0165 a0001c0001t0013g0166 a0001c0001t0016g0152 a0001c0002t0001g0032 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0125 a0001c0002t0001g0134 a0001c0002t0001g0142 a0001c0002t0001g0150 a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0094 a0001c0002t0003g0130 a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0003g0156 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0005g0001 a0001c0002t0005g0002 a0001c0002t0007g0063 a0001c0002t0015g0096 a0001c0002t0020g0163 a0001c0003t0001g0023 a0001c0003t0003g0144 a0001c0004t0008g0111 a0001c0004t0009g0161 a0001c0004t0009g0162 a0001c0004t0021g0171 a0001c0005t0001g0064 a0001c0005t0005g0004 a0001c0006t0006g0121	86	174	0.4943	-2	c.-18 others(19): Show c.-182-520_-182-519delTT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157819496	CAA CAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(129): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00735.hp1 HG00735.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18965.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0011 a0001c0002t0015 a0001c0002t0018 a0001c0002t0020 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0004t0008 a0001c0004t0009 a0001c0004t0021 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0005t0005 a0001c0006t0006	a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(129): Show a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0002g0013 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0086 a0001c0001t0002g0092 a0001c0001t0002g0097 a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0141 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0004g0164 a0001c0001t0007g0076 a0001c0001t0010g0003 a0001c0001t0012g0011 a0001c0001t0013g0165 a0001c0001t0013g0166 a0001c0001t0016g0152 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0125 a0001c0002t0001g0134 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0003g0130 a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0004g0169 a0001c0002t0004g0170 a0001c0002t0004g0173 a0001c0002t0005g0001 a0001c0002t0005g0002 a0001c0002t0007g0063 a0001c0002t0011g0009 a0001c0002t0011g0010 a0001c0002t0015g0096 a0001c0002t0018g0148 a0001c0002t0020g0163 a0001c0003t0001g0019 a0001c0003t0001g0023 a0001c0003t0001g0071 a0001c0003t0001g0136 a0001c0003t0003g0144 a0001c0003t0004g0167 a0001c0003t0005g0005 a0001c0003t0005g0007 a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 a0001c0004t0009g0083 a0001c0004t0009g0161 a0001c0004t0009g0162 a0001c0004t0021g0171 a0001c0005t0001g0064 a0001c0005t0001g0072 a0001c0005t0001g0157 a0001c0005t0003g0138 a0001c0005t0004g0174 a0001c0005t0005g0004 a0001c0006t0006g0102 a0001c0006t0006g0103 a0001c0006t0006g0121 a0001c0006t0006g0140 a0001c0006t0006g0160	132	174	0.7586	-2	c.-18 others(19): Show c.-182-939_-182-938delTT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157823695	AAT AAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02922.hp2 others(8): Show HG02258.hp1 HG02559.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03195.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0002t0001 a0001c0002t0004 a0001c0002t0018 others(4): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0018 a0001c0003t0001 a0001c0003t0005 a0001c0004t0008 a0001c0006t0006	a0001c0002t0001g0031 a0001c0002t0004g0169 a0001c0002t0004g0170 others(8): Show a0001c0002t0001g0031 a0001c0002t0004g0169 a0001c0002t0004g0170 a0001c0002t0018g0148 a0001c0003t0001g0019 a0001c0003t0001g0136 a0001c0003t0005g0007 a0001c0004t0008g0030 a0001c0006t0006g0102 a0001c0006t0006g0103 a0001c0006t0006g0140	11	174	0.0632	-2	c.-18 others(21): Show c.-182-5138_-182-5137delAT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157840521	CAA CAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01168.hp2 HG01169.hp1 others(5): Show HG01074.hp1 HG01168.hp2 HG01169.hp1 HG02055.hp1 HG02698.hp1 HG02922.hp2 HG03654.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0010 a0001c0002t0005 a0001c0002t0010 others(3): Show a0001c0001t0010 a0001c0002t0005 a0001c0002t0010 a0001c0003t0001 a0001c0003t0005 a0001c0005t0005	a0001c0001t0010g0003 a0001c0002t0005g0001 a0001c0002t0005g0006 others(5): Show a0001c0001t0010g0003 a0001c0002t0005g0001 a0001c0002t0005g0006 a0001c0002t0010g0008 a0001c0003t0001g0136 a0001c0003t0005g0005 a0001c0003t0005g0007 a0001c0005t0005g0004	8	174	0.0460	-2	c.-18 others(23): Show c.-182-21964_-182-21963delTT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157848315	GAC GAC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02004.hp1 HG03098.hp2 others(5): Show HG00735.hp1 HG02004.hp1 HG03098.hp2 HG03927.hp2 NA18978.hp2 NA19075.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0004 a0001c0001t0013 a0001c0002t0004 others(3): Show a0001c0001t0004 a0001c0001t0013 a0001c0002t0004 a0001c0005t0001 a0001c0005t0004 a0001c0006t0006	a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(5): Show a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 a0001c0002t0004g0172 a0001c0005t0001g0157 a0001c0005t0004g0174 a0001c0006t0006g0022 a0001c0006t0006g0102	8	174	0.0460	-2	c.-18 others(23): Show c.-183+27479_-183+27480delGT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157854199	TAA TAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02004.hp1 HG02055.hp2 others(10): Show HG00735.hp1 HG02004.hp1 HG02055.hp2 HG02258.hp2 HG02622.hp2 HG02895.hp1 HG02976.hp2 HG03098.hp2 HG03209.hp1 HG03927.hp2 NA18978.hp2 NA19075.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0004 a0001c0001t0013 a0001c0002t0001 others(6): Show a0001c0001t0004 a0001c0001t0013 a0001c0002t0001 a0001c0002t0004 a0001c0002t0011 a0001c0003t0001 a0001c0005t0001 a0001c0005t0004 a0001c0006t0006	a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(10): Show a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 a0001c0002t0001g0024 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0004g0172 a0001c0002t0011g0009 a0001c0002t0011g0010 a0001c0003t0001g0023 a0001c0005t0001g0157 a0001c0005t0004g0174 a0001c0006t0006g0022	13	174	0.0747	-2	c.-18 others(23): Show c.-183+21595_-183+21596delTT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157854425	GAA GAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp2 HG01978.hp1 others(1): Show HG01243.hp2 HG01255.hp2 HG01978.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0002g0051 others(1): Show a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0002g0051 a0001c0002t0001g0142	4	174	0.0230	-2	c.-18 others(23): Show c.-183+21369_-183+21370delTT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157855269	AGT AGT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG01978.hp2 others(13): Show HG00408.hp1 HG00558.hp2 HG01978.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp2 HG03491.hp2 HG03540.hp1 HG03654.hp1 HG03710.hp2 HG06807.hp1 NA18950.hp2 NA18981.hp2 NA19074.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0004t0008 a0001c0004t0009	a0001c0001t0001g0127 a0001c0001t0002g0046 a0001c0001t0002g0060 others(13): Show a0001c0001t0001g0127 a0001c0001t0002g0046 a0001c0001t0002g0060 a0001c0001t0002g0068 a0001c0001t0002g0151 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0091 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0002g0045 a0001c0002t0002g0061 a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0004t0008g0111 a0001c0004t0009g0162	16	174	0.0920	-2	c.-18 others(23): Show c.-183+20525_-183+20526delAC	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157862422	TAC TAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02622.hp1 others(14): Show HG02145.hp2 HG02257.hp2 HG02622.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 NA18906.hp1 NA18946.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0018 a0001c0003t0001 a0001c0003t0004 a0001c0004t0009 a0001c0004t0021	a0001c0001t0001g0082 a0001c0001t0002g0153 a0001c0001t0016g0152 others(14): Show a0001c0001t0001g0082 a0001c0001t0002g0153 a0001c0001t0016g0152 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0004g0169 a0001c0002t0004g0170 a0001c0002t0004g0173 a0001c0002t0018g0148 a0001c0003t0001g0071 a0001c0003t0004g0167 a0001c0003t0004g0168 a0001c0004t0009g0083 a0001c0004t0021g0171	17	174	0.0977	-2	c.-18 others(23): Show c.-183+13372_-183+13373delGT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157863011	CTT CTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00558.hp1 others(44): Show HG00408.hp1 HG00438.hp1 HG00558.hp1 HG01074.hp1 HG01168.hp2 HG01884.hp2 HG01891.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02486.hp2 HG02559.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG03041.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03834.hp2 HG04228.hp1 HG06807.hp1 NA18942.hp2 NA18951.hp1 NA18963.hp2 NA18965.hp2 NA18980.hp2 NA18981.hp1 NA19030.hp2 NA19043.hp2 NA19074.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0017 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0004t0008 a0001c0005t0001 a0001c0005t0003 a0001c0006t0006	a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0106 others(44): Show a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0002g0086 a0001c0001t0002g0092 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0007g0112 a0001c0001t0010g0003 a0001c0001t0014g0087 a0001c0002t0001g0032 a0001c0002t0001g0036 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0107 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0134 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0132 a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0005g0001 a0001c0002t0005g0002 a0001c0002t0005g0006 a0001c0002t0010g0008 a0001c0002t0017g0122 a0001c0003t0001g0104 a0001c0003t0003g0144 a0001c0003t0005g0007 a0001c0004t0008g0110 a0001c0004t0008g0111 a0001c0005t0001g0123 a0001c0005t0001g0157 a0001c0005t0003g0138 a0001c0006t0006g0121	47	174	0.2701	-2	c.-18 others(23): Show c.-183+12783_-183+12784delAA	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157863336	CTT CTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00735.hp1 others(26): Show HG00438.hp1 HG00558.hp1 HG00735.hp1 HG01884.hp2 HG01891.hp2 HG02004.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02135.hp2 HG02258.hp2 HG02559.hp2 HG02717.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18978.hp2 NA19075.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0011 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0004t0021 a0001c0005t0004 a0001c0006t0006	a0001c0001t0001g0093 a0001c0001t0002g0092 a0001c0001t0002g0119 others(26): Show a0001c0001t0001g0093 a0001c0001t0002g0092 a0001c0001t0002g0119 a0001c0001t0002g0129 a0001c0001t0004g0164 a0001c0001t0013g0166 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0036 a0001c0002t0001g0134 a0001c0002t0003g0130 a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0003g0156 a0001c0002t0004g0169 a0001c0002t0004g0170 a0001c0002t0004g0172 a0001c0002t0004g0173 a0001c0002t0005g0002 a0001c0002t0011g0009 a0001c0002t0011g0010 a0001c0003t0001g0136 a0001c0003t0001g0139 a0001c0003t0004g0167 a0001c0003t0004g0168 a0001c0003t0005g0005 a0001c0004t0021g0171 a0001c0005t0004g0174 a0001c0006t0006g0140	29	174	0.1667	-2	c.-18 others(23): Show c.-183+12458_-183+12459delAA	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157865099	GAA GAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02622.hp1 others(2): Show HG02055.hp2 HG02258.hp2 HG02622.hp1 HG02976.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 a0001c0002t0001 a0001c0002t0003 a0001c0002t0011	a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0003g0156 others(2): Show a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0003g0156 a0001c0002t0011g0009 a0001c0002t0011g0010	5	174	0.0287	-2	c.-18 others(23): Show c.-183+10695_-183+10696delTT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar

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