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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Select column to sort.

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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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
FASTKD3_chr5_7854159_7874031	7868200	GAAA GAAA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(22): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00735.hp1 HG01074.hp2 HG01168.hp1 HG01261.hp1 HG01358.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG02698.hp1 HG02717.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03834.hp2 NA20129.hp2 NA20300.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0008 a0001c0001 a0010c0008	a0001c0001t0003 a0001c0001t0004 a0010c0008t0004 a0001c0001t0003 a0001c0001t0004 a0010c0008t0004	a0001c0001t0003g0076 a0001c0001t0004g0005 a0001c0001t0004g0031 others(4): Show a0001c0001t0003g0076 a0001c0001t0004g0005 a0001c0001t0004g0031 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0010c0008t0004g0034	25	462	0.0541	-3	c.-11 others(16): Show c.-113-7_-113-5delTTT		FASTKD3	ENSG00000124279.12	transcript	ENST00000264669.10	protein_coding	1/6				chr5	TogoVar
FASTKD3_chr5_7854159_7874031	7868200	GAAAA GAAAA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp1 HG01070.hp1 HG01106.hp1 others(39): Show HG00741.hp1 HG01070.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp1 HG01261.hp2 HG01515.hp1 HG01517.hp1 HG02273.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03041.hp1 HG03225.hp2 HG03471.hp2 HG03579.hp1 HG03710.hp2 HG03834.hp1 NA18522.hp1 NA18941.hp1 NA18977.hp2 NA18994.hp1 NA18999.hp2 NA19043.hp1 NA19060.hp1 NA19088.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0001c0009 a0001c0010 others(2): Show a0001c0001 a0001c0009 a0001c0010 a0003c0003 a0011c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0009t0004 a0001c0010t0001 a0003c0003t0003 a0011c0015t0001	a0001c0001t0001g0014 a0001c0001t0002g0028 a0001c0001t0002g0029 others(7): Show a0001c0001t0001g0014 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0004g0007 a0001c0001t0004g0009 a0001c0001t0004g0021 a0001c0009t0004g0033 a0001c0010t0001g0075 a0003c0003t0003g0020 a0011c0015t0001g0063	42	462	0.0909	-4	c.-11 others(17): Show c.-113-8_-113-5delTTTT		FASTKD3	ENSG00000124279.12	transcript	ENST00000264669.10	protein_coding	1/6				chr5	TogoVar
FASTKD3_chr5_7854159_7874031	7868200	GAAAAA GAAAAA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00408.hp2 HG00423.hp1 others(174): Show HG00099.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19059.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19090.hp2 NA20129.hp1 NA21309.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0007 a0008	a0001c0001 a0001c0014 a0003c0003 others(3): Show a0001c0001 a0001c0014 a0003c0003 a0006c0006 a0007c0007 a0008c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0014t0002 a0003c0003t0003 a0003c0003t0005 a0006c0006t0001 a0007c0007t0003 a0008c0011t0002	a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0010 others(26): Show a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0003g0018 a0001c0001t0003g0030 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0004g0032 a0001c0001t0006g0057 a0001c0014t0002g0062 a0003c0003t0003g0002 a0003c0003t0003g0011 a0003c0003t0003g0071 a0003c0003t0003g0073 a0003c0003t0003g0074 a0003c0003t0005g0072 a0006c0006t0001g0025 a0007c0007t0003g0067 a0008c0011t0002g0056	177	462	0.3831	-5	c.-11 others(18): Show c.-113-9_-113-5delTTTTT		FASTKD3	ENSG00000124279.12	transcript	ENST00000264669.10	protein_coding	1/6				chr5	TogoVar
FASTKD3_chr5_7854159_7874031	7868202	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01099.hp2 HG01099.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0004 a0009c0013t0004	a0009c0013t0004g0038 a0009c0013t0004g0038	1	462	0.0022	0	c.-11 others(6): Show c.-113-6T>C		FASTKD3	ENSG00000124279.12	transcript	ENST00000264669.10	protein_coding	1/6				chr5	TogoVar
FASTK_chr7_151071624_151085809	151077034	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	420	0.0024	0	c.142 others(6): Show c.1428-7C>T		FASTK	ENSG00000164896.21	transcript	ENST00000297532.11	protein_coding	8/9				chr7	TogoVar
FAS_chr10_88985798_89022059	89003031	T T	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02145.hp2 HG02486.hp1 HG02145.hp2 HG02486.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0076 a0001c0008t0002g0084 a0001c0008t0002g0076 a0001c0008t0002g0084	2	396	0.0051	0	c.33T others(2): Show c.33T>A	p.Val others(5): Show p.Val11Val	FAS	ENSG00000026103.25	transcript	ENST00000652046.1	protein_coding	2/9	112/3696	33/1008	11/335	chr10	TogoVar
FAT1_chr4_186582794_186728856	186621773	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02055.hp1 HG02486.hp1 HG02630.hp2 others(5): Show HG02055.hp1 HG02486.hp1 HG02630.hp2 HG02818.hp1 HG02896.hp1 HG03225.hp1 HG03453.hp2 NA20129.hp1	a0025 a0035 a0065 others(2): Show a0025 a0035 a0065 a0078 a0111	a0025c0022 a0035c0040 a0065c0080 others(2): Show a0025c0022 a0035c0040 a0065c0080 a0078c0112 a0111c0163	a0025c0022t0029 a0025c0022t0054 a0035c0040t0005 others(4): Show a0025c0022t0029 a0025c0022t0054 a0035c0040t0005 a0035c0040t0053 a0065c0080t0026 a0078c0112t0041 a0111c0163t0057	a0025c0022t0029g0023 a0025c0022t0029g0093 a0025c0022t0054g0330 others(5): Show a0025c0022t0029g0023 a0025c0022t0029g0093 a0025c0022t0054g0330 a0035c0040t0005g0022 a0035c0040t0053g0320 a0065c0080t0026g0010 a0078c0112t0041g0108 a0111c0163t0057g0315	8	338	0.0237	0	c.481 others(4): Show c.4813A>G	p.Asn others(7): Show p.Asn1605Asp	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	10/27	5024/14776	4813/13767	1605/4588	chr4	TogoVar
FAT1_chr4_186582794_186728856	186633831	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02015.hp1 HG02135.hp1 HG02015.hp1 HG02135.hp1	a0031 a0031	a0031c0027 a0031c0027	a0031c0027t0005 a0031c0027t0005	a0031c0027t0005g0042 a0031c0027t0005g0043 a0031c0027t0005g0042 a0031c0027t0005g0043	2	338	0.0059	0	c.418 others(6): Show c.4184-8C>T		FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	6/26				chr4	TogoVar
FAT1_chr4_186582794_186728856	186663617	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(331): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(122): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0048 a0049 a0050 a0051 a0052 a0053 a0054 a0055 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0074 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0085 a0087 a0088 a0089 a0090 a0091 a0092 a0093 a0094 a0095 a0096 a0097 a0098 a0099 a0100 a0101 a0102 a0103 a0104 a0105 a0106 a0107 a0108 a0109 a0110 a0111 a0112 a0113 a0114 a0115 a0116 a0117 a0118 a0119 a0120 a0121 a0122 a0123 a0124 a0125 a0126	a0001c0001 a0001c0020 a0001c0072 others(164): Show a0001c0001 a0001c0020 a0001c0072 a0002c0002 a0002c0135 a0002c0140 a0003c0003 a0003c0065 a0003c0085 a0003c0101 a0004c0004 a0004c0087 a0004c0089 a0004c0091 a0005c0011 a0005c0026 a0005c0151 a0005c0152 a0005c0166 a0006c0005 a0006c0042 a0007c0009 a0007c0084 a0007c0096 a0007c0168 a0008c0018 a0008c0055 a0008c0130 a0008c0155 a0008c0156 a0009c0010 a0009c0056 a0009c0158 a0010c0015 a0010c0035 a0010c0041 a0011c0008 a0011c0066 a0012c0014 a0012c0021 a0012c0074 a0013c0006 a0014c0007 a0015c0012 a0016c0013 a0017c0036 a0017c0037 a0018c0016 a0019c0024 a0019c0102 a0020c0048 a0020c0121 a0020c0122 a0021c0051 a0021c0136 a0021c0137 a0022c0017 a0023c0019 a0024c0028 a0024c0061 a0025c0022 a0026c0023 a0027c0047 a0027c0107 a0028c0053 a0028c0147 a0029c0133 a0029c0134 a0029c0159 a0030c0025 a0031c0027 a0032c0029 a0033c0030 a0034c0031 a0035c0040 a0036c0034 a0037c0038 a0038c0039 a0039c0033 a0040c0032 a0041c0046 a0042c0043 a0043c0044 a0044c0045 a0045c0049 a0046c0050 a0047c0145 a0047c0146 a0048c0054 a0049c0052 a0050c0141 a0050c0143 a0051c0057 a0052c0058 a0053c0060 a0054c0059 a0055c0062 a0056c0063 a0057c0064 a0058c0129 a0059c0067 a0060c0068 a0061c0071 a0062c0069 a0063c0070 a0064c0073 a0065c0080 a0066c0075 a0067c0076 a0068c0077 a0069c0078 a0070c0079 a0071c0081 a0072c0082 a0073c0083 a0074c0127 a0075c0126 a0076c0128 a0077c0113 a0078c0112 a0079c0111 a0080c0108 a0081c0109 a0082c0106 a0083c0105 a0084c0110 a0085c0088 a0087c0092 a0088c0099 a0089c0098 a0090c0097 a0091c0094 a0092c0095 a0093c0100 a0094c0103 a0095c0093 a0096c0104 a0097c0086 a0098c0114 a0099c0120 a0100c0124 a0101c0123 a0102c0115 a0103c0116 a0104c0118 a0105c0117 a0106c0119 a0107c0125 a0108c0132 a0109c0138 a0110c0139 a0111c0163 a0112c0144 a0113c0154 a0114c0153 a0115c0150 a0116c0149 a0117c0148 a0118c0157 a0119c0165 a0120c0162 a0121c0160 a0122c0161 a0123c0142 a0124c0164 a0125c0131 a0126c0167	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(200): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0020t0002 a0001c0072t0002 a0002c0002t0007 a0002c0002t0009 a0002c0002t0011 a0002c0002t0012 a0002c0002t0021 a0002c0135t0011 a0002c0140t0011 a0003c0003t0001 a0003c0003t0013 a0003c0003t0018 a0003c0065t0001 a0003c0085t0001 a0003c0101t0004 a0004c0004t0002 a0004c0004t0005 a0004c0087t0002 a0004c0089t0004 a0004c0091t0002 a0005c0011t0006 a0005c0011t0017 a0005c0011t0035 a0005c0026t0006 a0005c0151t0006 a0005c0152t0006 a0005c0166t0010 a0006c0005t0004 a0006c0005t0055 a0006c0042t0004 a0007c0009t0001 a0007c0009t0003 a0007c0084t0001 a0007c0096t0001 a0007c0168t0001 a0008c0018t0020 a0008c0018t0033 a0008c0055t0007 a0008c0055t0011 a0008c0130t0011 a0008c0155t0016 a0008c0156t0011 a0009c0010t0007 a0009c0010t0010 a0009c0056t0006 a0009c0158t0010 a0010c0015t0001 a0010c0015t0003 a0010c0015t0043 a0010c0035t0003 a0010c0041t0015 a0011c0008t0001 a0011c0008t0002 a0011c0008t0003 a0011c0066t0001 a0012c0014t0004 a0012c0021t0001 a0012c0021t0018 a0012c0074t0004 a0013c0006t0004 a0013c0006t0008 a0014c0007t0001 a0014c0007t0002 a0015c0012t0005 a0016c0013t0003 a0016c0013t0027 a0017c0036t0001 a0017c0036t0003 a0017c0037t0032 a0018c0016t0001 a0019c0024t0001 a0019c0102t0004 a0020c0048t0031 a0020c0121t0050 a0020c0122t0025 a0021c0051t0010 a0021c0136t0009 a0021c0137t0020 a0022c0017t0007 a0022c0017t0010 a0023c0019t0007 a0023c0019t0010 a0024c0028t0024 a0024c0061t0008 a0025c0022t0029 a0025c0022t0054 a0026c0023t0022 a0026c0023t0023 a0027c0047t0003 a0027c0107t0025 a0028c0053t0009 a0028c0053t0021 a0028c0147t0009 a0029c0133t0011 a0029c0134t0011 a0029c0159t0006 a0030c0025t0016 a0030c0025t0034 a0031c0027t0005 a0032c0029t0008 a0033c0030t0028 a0034c0031t0002 a0035c0040t0005 a0035c0040t0053 a0036c0034t0015 a0036c0034t0060 a0037c0038t0001 a0038c0039t0001 a0039c0033t0002 a0039c0033t0052 a0040c0032t0002 a0041c0046t0001 a0041c0046t0003 a0042c0043t0001 a0043c0044t0004 a0044c0045t0001 a0045c0049t0003 a0046c0050t0012 a0047c0145t0006 a0047c0146t0006 a0048c0054t0030 a0049c0052t0051 a0049c0052t0059 a0050c0141t0012 a0050c0143t0034 a0051c0057t0002 a0052c0058t0005 a0053c0060t0002 a0054c0059t0008 a0055c0062t0008 a0056c0063t0005 a0057c0064t0003 a0058c0129t0001 a0059c0067t0001 a0060c0068t0002 a0061c0071t0001 a0062c0069t0005 a0063c0070t0013 a0064c0073t0001 a0065c0080t0026 a0066c0075t0001 a0067c0076t0044 a0068c0077t0019 a0069c0078t0003 a0070c0079t0004 a0071c0081t0036 a0072c0082t0022 a0073c0083t0037 a0074c0127t0014 a0075c0126t0039 a0076c0128t0014 a0077c0113t0001 a0078c0112t0041 a0079c0111t0003 a0080c0108t0015 a0081c0109t0048 a0082c0106t0026 a0083c0105t0001 a0084c0110t0003 a0085c0088t0002 a0087c0092t0002 a0088c0099t0001 a0089c0098t0002 a0090c0097t0013 a0091c0094t0001 a0092c0095t0019 a0093c0100t0019 a0094c0103t0002 a0095c0093t0001 a0096c0104t0003 a0097c0086t0001 a0098c0114t0003 a0099c0120t0005 a0100c0124t0047 a0101c0123t0003 a0102c0115t0002 a0103c0116t0014 a0104c0118t0040 a0105c0117t0014 a0106c0119t0038 a0107c0125t0013 a0108c0132t0006 a0109c0138t0007 a0110c0139t0009 a0111c0163t0057 a0112c0144t0007 a0113c0154t0046 a0114c0153t0042 a0115c0150t0007 a0116c0149t0016 a0117c0148t0007 a0118c0157t0045 a0119c0165t0035 a0120c0162t0007 a0121c0160t0049 a0122c0161t0056 a0123c0142t0009 a0124c0164t0006 a0125c0131t0058 a0126c0167t0006	a0001c0001t0001g0282 a0001c0001t0002g0123 a0001c0001t0002g0124 others(330): Show a0001c0001t0001g0282 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0130 a0001c0001t0002g0135 a0001c0001t0002g0154 a0001c0001t0002g0157 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0262 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0274 a0001c0001t0005g0009 a0001c0001t0005g0013 a0001c0001t0005g0018 a0001c0020t0002g0242 a0001c0020t0002g0275 a0001c0020t0002g0276 a0001c0072t0002g0158 a0002c0002t0007g0308 a0002c0002t0009g0294 a0002c0002t0009g0295 a0002c0002t0009g0300 a0002c0002t0009g0302 a0002c0002t0009g0303 a0002c0002t0009g0305 a0002c0002t0011g0031 a0002c0002t0011g0070 a0002c0002t0012g0137 a0002c0002t0012g0139 a0002c0002t0012g0144 a0002c0002t0012g0146 a0002c0002t0012g0147 a0002c0002t0012g0180 a0002c0002t0021g0334 a0002c0002t0021g0335 a0002c0135t0011g0064 a0002c0140t0011g0071 a0003c0003t0001g0206 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0225 a0003c0003t0001g0227 a0003c0003t0001g0230 a0003c0003t0001g0284 a0003c0003t0001g0286 a0003c0003t0013g0328 a0003c0003t0013g0331 a0003c0003t0013g0332 a0003c0003t0018g0212 a0003c0065t0001g0285 a0003c0085t0001g0201 a0003c0101t0004g0207 a0004c0004t0002g0131 a0004c0004t0002g0191 a0004c0004t0002g0208 a0004c0004t0002g0209 a0004c0004t0002g0219 a0004c0004t0002g0220 a0004c0004t0002g0229 a0004c0004t0005g0003 a0004c0004t0005g0029 a0004c0087t0002g0222 a0004c0089t0004g0234 a0004c0091t0002g0248 a0005c0011t0006g0095 a0005c0011t0006g0096 a0005c0011t0017g0008 a0005c0011t0017g0069 a0005c0011t0017g0084 a0005c0011t0035g0324 a0005c0026t0006g0061 a0005c0026t0006g0067 a0005c0026t0006g0087 a0005c0151t0006g0027 a0005c0152t0006g0026 a0005c0166t0010g0152 a0006c0005t0004g0193 a0006c0005t0004g0197 a0006c0005t0004g0205 a0006c0005t0004g0213 a0006c0005t0004g0224 a0006c0005t0004g0235 a0006c0005t0004g0236 a0006c0005t0004g0246 a0006c0005t0055g0322 a0006c0042t0004g0203 a0006c0042t0004g0204 a0007c0009t0001g0188 a0007c0009t0001g0195 a0007c0009t0001g0196 a0007c0009t0001g0198 a0007c0009t0001g0281 a0007c0009t0003g0007 a0007c0084t0001g0202 a0007c0096t0001g0247 a0007c0168t0001g0190 a0008c0018t0020g0141 a0008c0018t0020g0280 a0008c0018t0033g0298 a0008c0018t0033g0299 a0008c0055t0007g0327 a0008c0055t0011g0074 a0008c0130t0011g0025 a0008c0155t0016g0140 a0008c0156t0011g0017 a0009c0010t0007g0297 a0009c0010t0007g0311 a0009c0010t0007g0317 a0009c0010t0007g0318 a0009c0010t0010g0183 a0009c0010t0010g0184 a0009c0056t0006g0066 a0009c0056t0006g0072 a0009c0158t0010g0185 a0010c0015t0001g0270 a0010c0015t0003g0076 a0010c0015t0003g0077 a0010c0015t0043g0079 a0010c0035t0003g0078 a0010c0035t0003g0080 a0010c0041t0015g0088 a0010c0041t0015g0089 a0011c0008t0001g0121 a0011c0008t0001g0122 a0011c0008t0001g0126 a0011c0008t0001g0166 a0011c0008t0001g0176 a0011c0008t0002g0174 a0011c0008t0003g0075 a0011c0066t0001g0250 a0012c0014t0004g0161 a0012c0014t0004g0171 a0012c0014t0004g0271 a0012c0014t0004g0273 a0012c0021t0001g0278 a0012c0021t0018g0170 a0012c0021t0018g0257 a0012c0074t0004g0258 a0013c0006t0004g0182 a0013c0006t0008g0032 a0013c0006t0008g0034 a0013c0006t0008g0037 a0013c0006t0008g0047 a0013c0006t0008g0048 a0013c0006t0008g0053 a0014c0007t0001g0128 a0014c0007t0001g0129 a0014c0007t0001g0263 a0014c0007t0001g0264 a0014c0007t0002g0127 a0015c0012t0005g0036 a0015c0012t0005g0038 a0015c0012t0005g0040 a0015c0012t0005g0049 a0015c0012t0005g0058 a0016c0013t0003g0041 a0016c0013t0003g0046 a0016c0013t0003g0056 a0016c0013t0027g0050 a0016c0013t0027g0051 a0017c0036t0001g0164 a0017c0036t0003g0086 a0017c0037t0032g0251 a0017c0037t0032g0279 a0018c0016t0001g0210 a0018c0016t0001g0226 a0018c0016t0001g0231 a0018c0016t0001g0237 a0019c0024t0001g0221 a0019c0024t0001g0240 a0019c0024t0001g0287 a0019c0102t0004g0239 a0020c0048t0031g0116 a0020c0048t0031g0117 a0020c0121t0050g0153 a0020c0122t0025g0015 a0021c0051t0010g0150 a0021c0051t0010g0151 a0021c0136t0009g0296 a0021c0137t0020g0132 a0022c0017t0007g0293 a0022c0017t0007g0313 a0022c0017t0010g0186 a0022c0017t0010g0283 a0023c0019t0007g0309 a0023c0019t0007g0310 a0023c0019t0010g0148 a0023c0019t0010g0149 a0024c0028t0024g0035 a0024c0028t0024g0057 a0024c0061t0008g0055 a0025c0022t0029g0023 a0025c0022t0029g0093 a0025c0022t0054g0330 a0026c0023t0022g0114 a0026c0023t0023g0024 a0026c0023t0023g0085 a0027c0047t0003g0020 a0027c0047t0003g0081 a0027c0107t0025g0092 a0028c0053t0009g0307 a0028c0053t0021g0336 a0028c0147t0009g0304 a0029c0133t0011g0110 a0029c0134t0011g0028 a0029c0159t0006g0068 a0030c0025t0016g0142 a0030c0025t0016g0143 a0030c0025t0034g0291 a0031c0027t0005g0042 a0031c0027t0005g0043 a0032c0029t0008g0044 a0032c0029t0008g0045 a0033c0030t0028g0001 a0034c0031t0002g0265 a0034c0031t0002g0267 a0035c0040t0005g0022 a0035c0040t0053g0320 a0036c0034t0015g0073 a0036c0034t0060g0337 a0037c0038t0001g0156 a0037c0038t0001g0173 a0038c0039t0001g0261 a0038c0039t0001g0272 a0039c0033t0002g0256 a0039c0033t0052g0288 a0040c0032t0002g0254 a0040c0032t0002g0255 a0041c0046t0001g0133 a0041c0046t0003g0091 a0042c0043t0001g0200 a0043c0044t0004g0238 a0043c0044t0004g0260 a0044c0045t0001g0244 a0044c0045t0001g0245 a0045c0049t0003g0099 a0045c0049t0003g0100 a0046c0050t0012g0179 a0046c0050t0012g0194 a0047c0145t0006g0011 a0047c0146t0006g0030 a0048c0054t0030g0016 a0048c0054t0030g0109 a0049c0052t0051g0136 a0049c0052t0059g0319 a0050c0141t0012g0138 a0050c0143t0034g0289 a0051c0057t0002g0159 a0052c0058t0005g0033 a0053c0060t0002g0181 a0054c0059t0008g0039 a0055c0062t0008g0054 a0056c0063t0005g0052 a0057c0064t0003g0094 a0058c0129t0001g0277 a0059c0067t0001g0160 a0060c0068t0002g0155 a0061c0071t0001g0259 a0062c0069t0005g0014 a0063c0070t0013g0321 a0064c0073t0001g0252 a0065c0080t0026g0010 a0066c0075t0001g0120 a0067c0076t0044g0019 a0068c0077t0019g0162 a0069c0078t0003g0012 a0070c0079t0004g0253 a0071c0081t0036g0112 a0072c0082t0022g0113 a0073c0083t0037g0111 a0074c0127t0014g0101 a0075c0126t0039g0102 a0076c0128t0014g0103 a0077c0113t0001g0187 a0078c0112t0041g0108 a0079c0111t0003g0083 a0080c0108t0015g0004 a0081c0109t0048g0115 a0082c0106t0026g0005 a0083c0105t0001g0134 a0084c0110t0003g0090 a0085c0088t0002g0241 a0087c0092t0002g0232 a0088c0099t0001g0249 a0089c0098t0002g0189 a0090c0097t0013g0316 a0091c0094t0001g0192 a0092c0095t0019g0243 a0093c0100t0019g0211 a0094c0103t0002g0223 a0095c0093t0001g0233 a0096c0104t0003g0082 a0097c0086t0001g0228 a0098c0114t0003g0002 a0099c0120t0005g0063 a0100c0124t0047g0118 a0101c0123t0003g0062 a0102c0115t0002g0199 a0103c0116t0014g0107 a0104c0118t0040g0105 a0105c0117t0014g0104 a0106c0119t0038g0106 a0107c0125t0013g0329 a0108c0132t0006g0060 a0109c0138t0007g0301 a0110c0139t0009g0333 a0111c0163t0057g0315 a0112c0144t0007g0312 a0113c0154t0046g0065 a0114c0153t0042g0098 a0115c0150t0007g0323 a0116c0149t0016g0145 a0117c0148t0007g0292 a0118c0157t0045g0021 a0119c0165t0035g0325 a0120c0162t0007g0326 a0121c0160t0049g0119 a0122c0161t0056g0314 a0123c0142t0009g0306 a0124c0164t0006g0097 a0125c0131t0058g0290 a0126c0167t0006g0059	334	338	0.9882	0	c.326 others(6): Show c.3266-4G>C		FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	2/26				chr4	TogoVar
FAT1_chr4_186582794_186728856	186709844	A A	G G	splice_region_variant splice_region_variant	LOW	HG02109.hp2 HG02258.hp2 HG02965.hp2 others(3): Show HG02109.hp2 HG02258.hp2 HG02965.hp2 HG03098.hp2 NA18522.hp1 NA19240.hp2	a0026 a0071 a0072 others(1): Show a0026 a0071 a0072 a0073	a0026c0023 a0071c0081 a0072c0082 others(1): Show a0026c0023 a0071c0081 a0072c0082 a0073c0083	a0026c0023t0022 a0026c0023t0023 a0071c0081t0036 others(2): Show a0026c0023t0022 a0026c0023t0023 a0071c0081t0036 a0072c0082t0022 a0073c0083t0037	a0026c0023t0022g0114 a0026c0023t0023g0024 a0026c0023t0023g0085 others(3): Show a0026c0023t0022g0114 a0026c0023t0023g0024 a0026c0023t0023g0085 a0071c0081t0036g0112 a0072c0082t0022g0113 a0073c0083t0037g0111	6	338	0.0178	0	c.-17 others(3): Show c.-17T>C		FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	2/27				chr4	TogoVar
FAT2_chr5_151499092_151596331	151507615	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp1 NA18945.hp1 NA19060.hp2 HG00621.hp1 NA18945.hp1 NA19060.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0002 a0002c0001 a0003c0002	a0002c0001t0002 a0003c0002t0001 a0002c0001t0002 a0003c0002t0001	a0002c0001t0002g0007 a0003c0002t0001g0093 a0002c0001t0002g0007 a0003c0002t0001g0093	3	398	0.0075	0	c.120 others(7): Show c.12060-4G>A		FAT2	ENSG00000086570.13	transcript	ENST00000261800.6	protein_coding	22/23				chr5	TogoVar
FAT2_chr5_151499092_151596331	151522084	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02896.hp2 NA20129.hp1 HG02896.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0142 a0002c0099 a0001c0142 a0002c0099	a0001c0142t0007 a0002c0099t0007 a0001c0142t0007 a0002c0099t0007	a0001c0142t0007g0044 a0002c0099t0007g0033 a0001c0142t0007g0044 a0002c0099t0007g0033	2	398	0.0050	0	c.105 others(5): Show c.10509G>A	p.Ala others(7): Show p.Ala3503Ala	FAT2	ENSG00000086570.13	transcript	ENST00000261800.6	protein_coding	19/24	10696/14710	10509/13050	3503/4349	chr5	TogoVar
FAT2_chr5_151499092_151596331	151534649	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0271 a0001c0004t0001g0271	1	398	0.0025	0	c.919 others(6): Show c.9194-7C>T		FAT2	ENSG00000086570.13	transcript	ENST00000261800.6	protein_coding	12/23				chr5	TogoVar
FAT3_chr11_92219818_92901473	92774038	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp2 HG02723.hp1 HG02818.hp1 others(2): Show HG02615.hp2 HG02723.hp1 HG02818.hp1 HG03209.hp1 HG03516.hp2	a0001 a0005 a0001 a0005	a0001c0014 a0005c0004 a0001c0014 a0005c0004	a0001c0014t0036 a0005c0004t0006 a0005c0004t0042 a0001c0014t0036 a0005c0004t0006 a0005c0004t0042	a0001c0014t0036g0113 a0005c0004t0006g0060 a0005c0004t0006g0087 others(2): Show a0001c0014t0036g0113 a0005c0004t0006g0060 a0005c0004t0006g0087 a0005c0004t0006g0111 a0005c0004t0042g0116	5	118	0.0424	0	c.419 others(6): Show c.4196-3C>T		FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	6/27				chr11	TogoVar
FAT3_chr11_92219818_92901473	92886994	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00673.hp2 HG02080.hp2 HG02683.hp2 others(2): Show HG00673.hp2 HG02080.hp2 HG02683.hp2 HG04204.hp1 NA18986.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0001 a0002c0003 others(1): Show a0001c0002 a0002c0001 a0002c0003 a0004c0012	a0001c0002t0078 a0002c0001t0003 a0002c0003t0003 others(2): Show a0001c0002t0078 a0002c0001t0003 a0002c0003t0003 a0002c0003t0076 a0004c0012t0004	a0001c0002t0078g0009 a0002c0001t0003g0029 a0002c0003t0003g0037 others(2): Show a0001c0002t0078g0009 a0002c0001t0003g0029 a0002c0003t0003g0037 a0002c0003t0076g0008 a0004c0012t0004g0044	5	118	0.0424	0	c.129 others(7): Show c.12938-6A>T		FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	24/27				chr11	TogoVar
FAT4_chr4_125309955_125497932	125476166	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(93): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00642.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18968.hp1 NA18969.hp1 NA18975.hp1 NA18981.hp2 NA18982.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA19002.hp1 NA19009.hp1 NA19011.hp2 NA19054.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19084.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 others(18): Show a0001 a0002 a0008 a0010 a0012 a0020 a0022 a0024 a0026 a0028 a0036 a0039 a0051 a0052 a0053 a0056 a0057 a0060 a0061 a0062 a0064	a0001c0002 a0001c0009 a0001c0011 others(34): Show a0001c0002 a0001c0009 a0001c0011 a0001c0037 a0001c0054 a0001c0063 a0001c0087 a0001c0089 a0001c0108 a0002c0019 a0002c0022 a0002c0023 a0008c0013 a0008c0044 a0008c0103 a0010c0020 a0010c0027 a0010c0032 a0010c0110 a0010c0111 a0012c0018 a0020c0033 a0022c0039 a0024c0031 a0026c0045 a0028c0092 a0036c0049 a0039c0102 a0051c0074 a0052c0058 a0053c0055 a0056c0081 a0057c0057 a0060c0076 a0061c0088 a0062c0053 a0064c0113	a0001c0002t0001 a0001c0002t0007 a0001c0002t0010 others(39): Show a0001c0002t0001 a0001c0002t0007 a0001c0002t0010 a0001c0009t0001 a0001c0011t0001 a0001c0037t0001 a0001c0054t0015 a0001c0063t0001 a0001c0087t0001 a0001c0089t0001 a0001c0108t0001 a0002c0019t0002 a0002c0022t0001 a0002c0022t0003 a0002c0023t0002 a0002c0023t0003 a0008c0013t0002 a0008c0013t0006 a0008c0044t0002 a0008c0103t0006 a0010c0020t0001 a0010c0027t0001 a0010c0032t0001 a0010c0110t0001 a0010c0111t0001 a0012c0018t0002 a0020c0033t0001 a0022c0039t0001 a0024c0031t0001 a0026c0045t0001 a0028c0092t0001 a0036c0049t0004 a0039c0102t0003 a0051c0074t0001 a0052c0058t0001 a0053c0055t0001 a0056c0081t0001 a0057c0057t0001 a0060c0076t0001 a0061c0088t0001 a0062c0053t0001 a0064c0113t0001	a0001c0002t0001g0087 a0001c0002t0001g0127 a0001c0002t0001g0130 others(93): Show a0001c0002t0001g0087 a0001c0002t0001g0127 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0143 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0186 a0001c0002t0001g0190 a0001c0002t0007g0137 a0001c0002t0010g0182 a0001c0009t0001g0033 a0001c0009t0001g0053 a0001c0009t0001g0054 a0001c0009t0001g0056 a0001c0009t0001g0058 a0001c0009t0001g0059 a0001c0011t0001g0136 a0001c0011t0001g0160 a0001c0011t0001g0169 a0001c0011t0001g0170 a0001c0011t0001g0173 a0001c0011t0001g0184 a0001c0037t0001g0155 a0001c0037t0001g0157 a0001c0054t0015g0057 a0001c0063t0001g0069 a0001c0087t0001g0151 a0001c0089t0001g0148 a0001c0108t0001g0158 a0002c0019t0002g0302 a0002c0019t0002g0307 a0002c0019t0002g0310 a0002c0019t0002g0314 a0002c0022t0001g0041 a0002c0022t0003g0261 a0002c0022t0003g0273 a0002c0023t0002g0113 a0002c0023t0002g0114 a0002c0023t0003g0275 a0008c0013t0002g0121 a0008c0013t0002g0191 a0008c0013t0002g0194 a0008c0013t0002g0279 a0008c0013t0006g0073 a0008c0013t0006g0074 a0008c0044t0002g0077 a0008c0044t0002g0078 a0008c0103t0006g0072 a0010c0020t0001g0025 a0010c0020t0001g0038 a0010c0020t0001g0039 a0010c0027t0001g0034 a0010c0027t0001g0035 a0010c0032t0001g0004 a0010c0032t0001g0006 a0010c0110t0001g0168 a0010c0111t0001g0187 a0012c0018t0002g0026 a0012c0018t0002g0027 a0012c0018t0002g0205 a0012c0018t0002g0206 a0020c0033t0001g0049 a0020c0033t0001g0050 a0022c0039t0001g0188 a0022c0039t0001g0189 a0024c0031t0001g0046 a0024c0031t0001g0047 a0026c0045t0001g0141 a0026c0045t0001g0178 a0028c0092t0001g0125 a0036c0049t0004g0048 a0039c0102t0003g0274 a0051c0074t0001g0247 a0052c0058t0001g0045 a0053c0055t0001g0055 a0056c0081t0001g0175 a0057c0057t0001g0036 a0060c0076t0001g0005 a0061c0088t0001g0181 a0062c0053t0001g0142 a0064c0113t0001g0051	96	320	0.3000	0	c.122 others(7): Show c.12214-5C>T		FAT4	ENSG00000196159.14	transcript	ENST00000394329.9	protein_coding	12/17				chr4	TogoVar
FBF1_chr17_75904574_75946042	75914747	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02886.hp2 HG02886.hp2	a0004 a0004	a0004c0028 a0004c0028	a0004c0028t0008 a0004c0028t0008	a0004c0028t0008g0237 a0004c0028t0008g0237	1	318	0.0031	0	c.281 others(4): Show c.2814G>A	p.Lys others(6): Show p.Lys938Lys	FBF1	ENSG00000188878.20	transcript	ENST00000636174.2	protein_coding	25/30	3092/4874	2814/3447	938/1148	chr17	TogoVar
FBH1_chr10_5885243_5942593	5909062	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(128): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02698.hp1 HG02738.hp1 HG03098.hp1 HG03139.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18971.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 others(5): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0001c0011 a0001c0013 a0001c0019 a0001c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0007t0001 a0001c0009t0001 a0001c0011t0001 a0001c0013t0003 a0001c0019t0001 a0001c0020t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(93): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0233 a0001c0001t0003g0080 a0001c0001t0005g0013 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0056 a0001c0003t0001g0079 a0001c0003t0001g0084 a0001c0007t0001g0102 a0001c0007t0001g0141 a0001c0009t0001g0013 a0001c0011t0001g0135 a0001c0013t0003g0002 a0001c0019t0001g0011 a0001c0020t0001g0057	131	344	0.3808	0	c.884 others(5): Show c.884+7T>C		FBH1	ENSG00000134452.20	transcript	ENST00000362091.9	protein_coding	4/20				chr10	TogoVar
FBH1_chr10_5885243_5942593	5917506	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0244 a0001c0016t0001g0244	1	344	0.0029	0	c.187 others(4): Show c.1875C>T	p.Asp others(6): Show p.Asp625Asp	FBH1	ENSG00000134452.20	transcript	ENST00000362091.9	protein_coding	11/21	1978/3548	1875/3132	625/1043	chr10	TogoVar
FBH1_chr10_5885243_5942593	5925491	T T	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0135 a0001c0011t0001g0135	1	344	0.0029	0	c.272 others(4): Show c.2721T>G	p.Val others(6): Show p.Val907Val	FBH1	ENSG00000134452.20	transcript	ENST00000362091.9	protein_coding	18/21	2824/3548	2721/3132	907/1043	chr10	TogoVar
FBH1_chr10_5885243_5942593	5936448	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(268): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18971.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0016 a0001c0017 a0001c0019 a0001c0020 a0001c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0013t0003 a0001c0014t0001 a0001c0016t0001 a0001c0017t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(202): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0002g0182 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0017 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0080 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0005g0005 a0001c0001t0005g0013 a0001c0001t0008g0190 a0001c0002t0001g0019 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0238 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0056 a0001c0003t0001g0079 a0001c0003t0001g0084 a0001c0004t0001g0191 a0001c0004t0001g0192 a0001c0004t0001g0193 a0001c0004t0001g0194 a0001c0005t0001g0229 a0001c0005t0001g0230 a0001c0005t0001g0231 a0001c0006t0001g0025 a0001c0006t0001g0099 a0001c0007t0001g0102 a0001c0007t0001g0141 a0001c0009t0001g0013 a0001c0010t0001g0247 a0001c0011t0001g0135 a0001c0012t0001g0239 a0001c0013t0003g0002 a0001c0014t0001g0201 a0001c0016t0001g0244 a0001c0017t0001g0114 a0001c0019t0001g0011 a0001c0020t0001g0057 a0001c0021t0001g0108	271	344	0.7878	0	c.283 others(6): Show c.2830-8T>C		FBH1	ENSG00000134452.20	transcript	ENST00000362091.9	protein_coding	19/20				chr10	TogoVar
FBLN1_chr22_45497883_45606135	45518791	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0251 a0001c0001t0009g0251	1	346	0.0029	0	c.185 others(5): Show c.185+4C>T		FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	2/16				chr22	TogoVar
FBLN1_chr22_45497883_45606135	45518795	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00408.hp2 HG00642.hp2 others(61): Show HG00323.hp2 HG00408.hp2 HG00642.hp2 HG01099.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01433.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03516.hp1 HG03540.hp2 HG03831.hp2 HG03942.hp2 HG04228.hp1 NA18906.hp1 NA18942.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18986.hp2 NA18990.hp1 NA19003.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp2 NA19074.hp2 NA19086.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0013 a0001c0014 a0001c0022 a0001c0024 a0002c0003 a0004c0007 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0004t0001 a0001c0005t0001 a0001c0005t0007 a0001c0006t0001 a0001c0009t0004 a0001c0013t0001 a0001c0014t0001 a0001c0022t0001 a0001c0024t0001 a0002c0003t0001 a0004c0007t0001 a0004c0007t0002 a0006c0011t0002	a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0048 others(61): Show a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0119 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0223 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0309 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0002g0073 a0001c0001t0002g0114 a0001c0001t0002g0201 a0001c0001t0003g0209 a0001c0001t0003g0230 a0001c0001t0003g0303 a0001c0001t0004g0086 a0001c0001t0004g0112 a0001c0001t0005g0034 a0001c0001t0005g0097 a0001c0001t0006g0324 a0001c0001t0008g0205 a0001c0001t0008g0333 a0001c0001t0009g0251 a0001c0001t0010g0206 a0001c0001t0011g0015 a0001c0001t0012g0199 a0001c0002t0001g0202 a0001c0002t0001g0336 a0001c0002t0002g0274 a0001c0002t0002g0304 a0001c0002t0003g0326 a0001c0002t0003g0327 a0001c0002t0003g0329 a0001c0002t0006g0328 a0001c0004t0001g0316 a0001c0005t0001g0087 a0001c0005t0007g0085 a0001c0006t0001g0192 a0001c0009t0004g0180 a0001c0013t0001g0070 a0001c0014t0001g0204 a0001c0022t0001g0325 a0001c0024t0001g0191 a0002c0003t0001g0200 a0004c0007t0001g0083 a0004c0007t0002g0084 a0006c0011t0002g0190	64	346	0.1850	0	c.185 others(5): Show c.185+8T>C		FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	2/16				chr22	TogoVar
FBLN1_chr22_45497883_45606135	45528014	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp2 HG02486.hp1 HG02559.hp1 others(7): Show HG01243.hp2 HG02486.hp1 HG02559.hp1 HG02965.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp1 NA19030.hp2 NA20129.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0001c0006 a0008c0020 a0001c0002 a0001c0006 a0008c0020	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0006t0001 a0008c0020t0007	a0001c0002t0001g0016 a0001c0002t0001g0080 a0001c0002t0002g0017 others(7): Show a0001c0002t0001g0016 a0001c0002t0001g0080 a0001c0002t0002g0017 a0001c0002t0002g0105 a0001c0002t0002g0317 a0001c0002t0002g0335 a0001c0002t0003g0110 a0001c0002t0003g0329 a0001c0006t0001g0192 a0008c0020t0007g0111	10	346	0.0289	0	c.484 others(5): Show c.484+5C>A		FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	4/16				chr22	TogoVar
FBLN1_chr22_45497883_45606135	45548615	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18975.hp2 NA18975.hp2	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0001 a0007c0017t0001	a0007c0017t0001g0046 a0007c0017t0001g0046	1	346	0.0029	0	c.144 others(4): Show c.1444A>T	p.Ile others(6): Show p.Ile482Phe	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	13/17	1547/2904	1444/2112	482/703	chr22	TogoVar
FBLN2_chr3_13544125_13643404	13627827	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp1 HG02257.hp1 HG03195.hp1 others(5): Show HG01081.hp1 HG02257.hp1 HG03195.hp1 HG03486.hp1 HG03579.hp2 HG03834.hp1 HG03942.hp1 NA19043.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0027	a0001c0016 a0001c0071 a0003c0024 others(2): Show a0001c0016 a0001c0071 a0003c0024 a0005c0018 a0027c0056	a0001c0016t0013 a0001c0071t0013 a0003c0024t0005 others(3): Show a0001c0016t0013 a0001c0071t0013 a0003c0024t0005 a0005c0018t0004 a0005c0018t0009 a0027c0056t0004	a0001c0016t0013g0073 a0001c0071t0013g0151 a0003c0024t0005g0249 others(5): Show a0001c0016t0013g0073 a0001c0071t0013g0151 a0003c0024t0005g0249 a0005c0018t0004g0009 a0005c0018t0009g0007 a0005c0018t0009g0012 a0005c0018t0009g0070 a0027c0056t0004g0010	8	312	0.0256	0	c.243 others(6): Show c.2432-5T>C		FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding	10/17				chr3	TogoVar
FBLN2_chr3_13544125_13643404	13629291	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01993.hp1 HG01993.hp1	a0003 a0003	a0003c0060 a0003c0060	a0003c0060t0005 a0003c0060t0005	a0003c0060t0005g0043 a0003c0060t0005g0043	1	312	0.0032	0	c.284 others(4): Show c.2841C>T	p.Ile others(6): Show p.Ile947Ile	FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding	13/18	2966/4306	2841/3696	947/1231	chr3	TogoVar
FBLN2_chr3_13544125_13643404	13629822	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02080.hp2 HG02080.hp2	a0025 a0025	a0025c0054 a0025c0054	a0025c0054t0004 a0025c0054t0004	a0025c0054t0004g0201 a0025c0054t0004g0201	1	312	0.0032	0	c.284 others(4): Show c.2845G>A	p.Val others(6): Show p.Val949Met	FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding	14/18	2970/4306	2845/3696	949/1231	chr3	TogoVar
FBLN2_chr3_13544125_13643404	13630691	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0090 a0001c0026t0001g0090	1	312	0.0032	0	c.296 others(6): Show c.2969-8C>G		FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding	14/17				chr3	TogoVar
FBLN2_chr3_13544125_13643404	13636446	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00408.hp2 HG02015.hp1 HG02698.hp2 others(5): Show HG00408.hp2 HG02015.hp1 HG02698.hp2 HG04204.hp2 NA18939.hp1 NA18955.hp2 NA19001.hp1 NA19057.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0033 a0002c0025 a0002c0029 others(1): Show a0001c0033 a0002c0025 a0002c0029 a0008c0038	a0001c0033t0005 a0002c0025t0005 a0002c0029t0005 others(1): Show a0001c0033t0005 a0002c0025t0005 a0002c0029t0005 a0008c0038t0009	a0001c0033t0005g0212 a0001c0033t0005g0228 a0002c0025t0005g0109 others(5): Show a0001c0033t0005g0212 a0001c0033t0005g0228 a0002c0025t0005g0109 a0002c0025t0005g0112 a0002c0025t0005g0132 a0002c0029t0005g0115 a0002c0029t0005g0192 a0008c0038t0009g0135	8	312	0.0256	0	c.321 others(4): Show c.3216C>T	p.Asp others(7): Show p.Asp1072Asp	FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding	17/18	3341/4306	3216/3696	1072/1231	chr3	TogoVar
FBLN2_chr3_13544125_13643404	13636568	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0011 a0011	a0011c0032 a0011c0032	a0011c0032t0014 a0011c0032t0014	a0011c0032t0014g0285 a0011c0032t0014g0286 a0011c0032t0014g0285 a0011c0032t0014g0286	2	312	0.0064	0	c.333 others(4): Show c.3338C>T	p.Thr others(7): Show p.Thr1113Met	FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding	17/18	3463/4306	3338/3696	1113/1231	chr3	TogoVar
FBLN5_chr14_91864411_91952694	91942902	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18966.hp1 NA18983.hp1 NA18966.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0324 a0001c0001t0002g0325	2	360	0.0056	0	c.72+ others(4): Show c.72+5G>T		FBLN5	ENSG00000140092.16	transcript	ENST00000342058.9	protein_coding	2/10				chr14	TogoVar
FBL_chr19_39829458_39851379	39836672	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00673.hp1 HG00735.hp2 others(30): Show HG00099.hp1 HG00673.hp1 HG00735.hp2 HG01099.hp1 HG01175.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02155.hp1 HG02165.hp1 NA18939.hp1 NA18964.hp2 NA18974.hp2 NA18975.hp2 NA18991.hp2 NA19002.hp1 NA19009.hp1 NA19009.hp2 NA19054.hp2 NA19064.hp2 NA19075.hp2 NA19080.hp2 NA19086.hp1 NA19089.hp2 NA19091.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0022 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0085 a0001c0001t0001g0093	33	378	0.0873	0	c.683 others(5): Show c.683-4T>C		FBL	ENSG00000105202.9	transcript	ENST00000221801.8	protein_coding	6/8				chr19	TogoVar
FBN1_chr15_48403313_48650709	48420679	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show HG00408.hp2 HG00544.hp1 HG01884.hp2 HG02155.hp2 HG02523.hp2 HG02738.hp1 HG02818.hp1 HG03579.hp1 HG03654.hp1 HG03831.hp1 HG03834.hp1 NA18946.hp2 NA18954.hp2 NA18960.hp2 NA18963.hp2 NA18975.hp1 NA18982.hp2 NA18992.hp1 NA18993.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19012.hp2 NA19060.hp1 NA19072.hp1 NA19074.hp1 NA19077.hp2 NA19080.hp2 NA19084.hp2 NA19088.hp1 NA19240.hp2 NA20805.hp2	a0001 a0001	a0001c0004 a0001c0012 a0001c0024 a0001c0004 a0001c0012 a0001c0024	a0001c0004t0004 a0001c0004t0010 a0001c0004t0016 others(3): Show a0001c0004t0004 a0001c0004t0010 a0001c0004t0016 a0001c0004t0022 a0001c0012t0010 a0001c0024t0010	a0001c0004t0004g0017 a0001c0004t0004g0048 a0001c0004t0004g0049 others(29): Show a0001c0004t0004g0017 a0001c0004t0004g0048 a0001c0004t0004g0049 a0001c0004t0004g0052 a0001c0004t0004g0053 a0001c0004t0004g0054 a0001c0004t0004g0055 a0001c0004t0004g0056 a0001c0004t0004g0057 a0001c0004t0004g0058 a0001c0004t0004g0059 a0001c0004t0004g0060 a0001c0004t0004g0061 a0001c0004t0004g0062 a0001c0004t0004g0063 a0001c0004t0004g0064 a0001c0004t0004g0065 a0001c0004t0004g0066 a0001c0004t0004g0067 a0001c0004t0004g0068 a0001c0004t0004g0069 a0001c0004t0004g0083 a0001c0004t0004g0105 a0001c0004t0004g0137 a0001c0004t0004g0138 a0001c0004t0004g0140 a0001c0004t0004g0287 a0001c0004t0010g0012 a0001c0004t0016g0050 a0001c0004t0022g0139 a0001c0012t0010g0016 a0001c0024t0010g0195	32	288	0.1111	0	c.781 others(6): Show c.7819+8A>C		FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	63/65				chr15	TogoVar
FBN1_chr15_48403313_48650709	48421954	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02896.hp2 HG02896.hp2	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0002 a0004c0017t0002	a0004c0017t0002g0023 a0004c0017t0002g0023	1	288	0.0035	0	c.756 others(4): Show c.7568T>C	p.Ile others(7): Show p.Ile2523Thr	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	61/66	7884/11609	7568/8616	2523/2871	chr15	TogoVar
FBN1_chr15_48403313_48650709	48422067	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02451.hp1 HG02451.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0011 a0005c0016t0011	a0005c0016t0011g0123 a0005c0016t0011g0123	1	288	0.0035	0	c.745 others(4): Show c.7455T>G	p.Asp others(7): Show p.Asp2485Glu	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	61/66	7771/11609	7455/8616	2485/2871	chr15	TogoVar
FBN1_chr15_48403313_48650709	48441854	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03688.hp2 NA20905.hp1 HG03688.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0116 a0001c0001t0001g0095 a0001c0001t0001g0116	2	288	0.0069	0	c.603 others(6): Show c.6038-8T>A		FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	49/65				chr15	TogoVar
FBN1_chr15_48403313_48650709	48465856	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01192.hp1 HG01192.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0003 a0008c0013t0003	a0008c0013t0003g0028 a0008c0013t0003g0028	1	288	0.0035	0	c.475 others(4): Show c.4750G>A	p.Glu others(7): Show p.Glu1584Lys	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	39/66	5066/11609	4750/8616	1584/2871	chr15	TogoVar
FBN1_chr15_48403313_48650709	48474658	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp2 HG02615.hp2 HG02809.hp2 HG02559.hp2 HG02615.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0190 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0190	3	288	0.0104	0	c.396 others(6): Show c.3965-8T>C		FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	32/65				chr15	TogoVar
FBN1_chr15_48403313_48650709	48487205	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00408.hp2 HG00544.hp1 others(99): Show HG00099.hp1 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00642.hp1 HG00741.hp2 HG01106.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01346.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp2 HG02056.hp1 HG02080.hp2 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02809.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18954.hp2 NA18956.hp1 NA18960.hp2 NA18963.hp2 NA18965.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0002 a0001c0004 a0001c0005 others(4): Show a0001c0002 a0001c0004 a0001c0005 a0001c0010 a0002c0003 a0002c0009 a0008c0013	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 others(15): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0017 a0001c0002t0023 a0001c0004t0004 a0001c0004t0016 a0001c0004t0022 a0001c0005t0003 a0001c0005t0013 a0001c0010t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0006 a0002c0009t0001 a0008c0013t0003	a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0003g0025 others(99): Show a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0082 a0001c0002t0004g0043 a0001c0002t0008g0133 a0001c0002t0008g0134 a0001c0002t0008g0135 a0001c0002t0008g0285 a0001c0002t0017g0040 a0001c0002t0023g0034 a0001c0004t0004g0017 a0001c0004t0004g0048 a0001c0004t0004g0049 a0001c0004t0004g0052 a0001c0004t0004g0053 a0001c0004t0004g0054 a0001c0004t0004g0055 a0001c0004t0004g0056 a0001c0004t0004g0057 a0001c0004t0004g0058 a0001c0004t0004g0059 a0001c0004t0004g0060 a0001c0004t0004g0061 a0001c0004t0004g0062 a0001c0004t0004g0063 a0001c0004t0004g0064 a0001c0004t0004g0065 a0001c0004t0004g0066 a0001c0004t0004g0067 a0001c0004t0004g0068 a0001c0004t0004g0069 a0001c0004t0004g0083 a0001c0004t0004g0105 a0001c0004t0004g0137 a0001c0004t0004g0138 a0001c0004t0004g0140 a0001c0004t0004g0287 a0001c0004t0016g0050 a0001c0004t0022g0139 a0001c0005t0003g0208 a0001c0005t0003g0209 a0001c0005t0003g0210 a0001c0005t0013g0199 a0001c0010t0003g0192 a0002c0003t0001g0162 a0002c0003t0002g0145 a0002c0003t0002g0147 a0002c0003t0002g0148 a0002c0003t0002g0154 a0002c0003t0002g0155 a0002c0003t0002g0189 a0002c0003t0005g0142 a0002c0003t0005g0143 a0002c0003t0005g0144 a0002c0003t0005g0146 a0002c0003t0005g0152 a0002c0003t0005g0156 a0002c0003t0005g0157 a0002c0003t0005g0159 a0002c0003t0005g0165 a0002c0003t0005g0169 a0002c0003t0005g0170 a0002c0003t0005g0171 a0002c0003t0005g0174 a0002c0003t0005g0175 a0002c0003t0005g0261 a0002c0003t0005g0281 a0002c0003t0006g0149 a0002c0003t0006g0150 a0002c0003t0006g0151 a0002c0003t0006g0153 a0002c0003t0006g0158 a0002c0003t0006g0160 a0002c0003t0006g0161 a0002c0003t0006g0163 a0002c0003t0006g0164 a0002c0003t0006g0166 a0002c0003t0006g0167 a0002c0003t0006g0168 a0002c0003t0006g0173 a0002c0009t0001g0211 a0002c0009t0001g0212 a0008c0013t0003g0028	102	288	0.3542	0	c.346 others(6): Show c.3464-5G>A		FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	28/65				chr15	TogoVar
FBN1_chr15_48403313_48650709	48487309	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02056.hp2 HG02165.hp2 HG02056.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0221 a0001c0001t0005g0223 a0001c0001t0005g0221 a0001c0001t0005g0223	2	288	0.0069	0	c.346 others(6): Show c.3463+3A>G		FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	28/65				chr15	TogoVar
FBN1_chr15_48403313_48650709	48489845	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG01884.hp2 HG02258.hp1 others(5): Show HG01884.hp1 HG01884.hp2 HG02258.hp1 HG02896.hp1 HG02897.hp2 HG03209.hp1 HG03225.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 others(2): Show a0001c0001 a0001c0006 a0001c0007 a0001c0012 a0001c0025	a0001c0001t0010 a0001c0006t0013 a0001c0006t0014 others(3): Show a0001c0001t0010 a0001c0006t0013 a0001c0006t0014 a0001c0007t0002 a0001c0012t0010 a0001c0025t0008	a0001c0001t0010g0018 a0001c0001t0010g0225 a0001c0006t0013g0215 others(5): Show a0001c0001t0010g0018 a0001c0001t0010g0225 a0001c0006t0013g0215 a0001c0006t0014g0004 a0001c0007t0002g0013 a0001c0007t0002g0014 a0001c0012t0010g0016 a0001c0025t0008g0203	8	288	0.0278	0	c.308 others(6): Show c.3082+6A>G		FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	25/65				chr15	TogoVar
FBN1_chr15_48403313_48650709	48495596	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0192 a0001c0010t0003g0192	1	288	0.0035	0	c.242 others(6): Show c.2420-8T>C		FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	20/65				chr15	TogoVar
FBN1_chr15_48403313_48650709	48526132	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03195.hp2 HG03195.hp2	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0027 a0012c0011t0027	a0012c0011t0027g0213 a0012c0011t0027g0213	1	288	0.0035	0	c.986 others(3): Show c.986T>C	p.Ile others(6): Show p.Ile329Thr	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	9/66	1302/11609	986/8616	329/2871	chr15	TogoVar
FBN1_chr15_48403313_48650709	48613007	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0267 a0001c0001t0009g0267	1	288	0.0035	0	c.247 others(5): Show c.247+3A>G		FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	3/65				chr15	TogoVar
FBN2_chr5_128252909_128543245	128280322	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG01361.hp1 HG02109.hp1 others(17): Show HG00099.hp2 HG01361.hp1 HG02109.hp1 HG02155.hp2 HG02922.hp1 HG03486.hp2 HG06807.hp2 NA18949.hp1 NA18951.hp2 NA18956.hp2 NA18967.hp2 NA18977.hp2 NA18998.hp1 NA19003.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19077.hp1 NA20905.hp2	a0001 a0004 a0008 others(2): Show a0001 a0004 a0008 a0011 a0024	a0001c0021 a0004c0005 a0008c0042 others(3): Show a0001c0021 a0004c0005 a0008c0042 a0008c0063 a0011c0018 a0024c0068	a0001c0021t0003 a0004c0005t0001 a0004c0005t0002 others(4): Show a0001c0021t0003 a0004c0005t0001 a0004c0005t0002 a0008c0042t0012 a0008c0063t0012 a0011c0018t0003 a0024c0068t0002	a0001c0021t0003g0010 a0004c0005t0001g0191 a0004c0005t0001g0192 others(17): Show a0001c0021t0003g0010 a0004c0005t0001g0191 a0004c0005t0001g0192 a0004c0005t0001g0193 a0004c0005t0001g0195 a0004c0005t0001g0196 a0004c0005t0001g0197 a0004c0005t0001g0198 a0004c0005t0001g0199 a0004c0005t0001g0200 a0004c0005t0001g0205 a0004c0005t0001g0209 a0004c0005t0001g0214 a0004c0005t0001g0232 a0004c0005t0002g0069 a0008c0042t0012g0054 a0008c0063t0012g0096 a0011c0018t0003g0007 a0011c0018t0003g0016 a0024c0068t0002g0106	20	236	0.0848	0	c.701 others(6): Show c.7013-5T>C		FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	55/64				chr5	TogoVar
FBN2_chr5_128252909_128543245	128334720	T T	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02559.hp2 HG02572.hp1 HG02647.hp2 others(3): Show HG02559.hp2 HG02572.hp1 HG02647.hp2 HG02970.hp1 HG03195.hp1 HG06807.hp1	a0001 a0001	a0001c0011 a0001c0014 a0001c0031 a0001c0011 a0001c0014 a0001c0031	a0001c0011t0009 a0001c0011t0010 a0001c0011t0022 others(2): Show a0001c0011t0009 a0001c0011t0010 a0001c0011t0022 a0001c0014t0014 a0001c0031t0026	a0001c0011t0009g0065 a0001c0011t0010g0104 a0001c0011t0022g0061 others(3): Show a0001c0011t0009g0065 a0001c0011t0010g0104 a0001c0011t0022g0061 a0001c0014t0014g0112 a0001c0014t0014g0114 a0001c0031t0026g0116	6	236	0.0254	0	c.409 others(4): Show c.4098A>C	p.Thr others(7): Show p.Thr1366Thr	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	31/65	4740/10927	4098/8739	1366/2912	chr5	TogoVar
FBN2_chr5_128252909_128543245	128364594	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0100 a0001c0003t0005g0100	1	236	0.0042	0	c.242 others(6): Show c.2428+6T>A		FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	18/64				chr5	TogoVar
FBN2_chr5_128252909_128543245	128392159	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0033 a0003c0004t0033	a0003c0004t0033g0128 a0003c0004t0033g0128	1	236	0.0042	0	c.146 others(6): Show c.1466-4G>A		FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	10/64				chr5	TogoVar
FBN2_chr5_128252909_128543245	128392160	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20300.hp2 NA20300.hp2	a0013 a0013	a0013c0047 a0013c0047	a0013c0047t0002 a0013c0047t0002	a0013c0047t0002g0059 a0013c0047t0002g0059	1	236	0.0042	0	c.146 others(6): Show c.1466-5C>T		FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	10/64				chr5	TogoVar

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