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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
FAT3_chr11_92219818_92901473	92442111	A A	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0048 a0004c0048	a0004c0048t0047 a0004c0048t0047	a0004c0048t0047g0055 a0004c0048t0047g0055	1	118	0.0085	24	c.329 others(45): Show c.3293-82522_3293-82521insATATATATATATTTTTTTTTTTTT		FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92478934	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	a0001 a0009 a0001 a0009	a0001c0005 a0009c0007 a0001c0005 a0009c0007	a0001c0005t0065 a0009c0007t0049 a0001c0005t0065 a0009c0007t0049	a0001c0005t0065g0004 a0009c0007t0049g0047 a0001c0005t0065g0004 a0009c0007t0049g0047	2	118	0.0170	24	c.329 others(45): Show c.3293-45679_3293-45678insCTTTCTTTCTTTCTTTCTTTCTTT		FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92486130	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19009.hp2 HG03209.hp2 NA19009.hp2	a0024 a0048 a0024 a0048	a0024c0042 a0048c0069 a0024c0042 a0048c0069	a0024c0042t0004 a0048c0069t0046 a0024c0042t0004 a0048c0069t0046	a0024c0042t0004g0097 a0048c0069t0046g0056 a0024c0042t0004g0097 a0048c0069t0046g0056	2	118	0.0170	24	c.329 others(45): Show c.3293-38499_3293-38476dupTTTTTTTTTTTTTTTTTTTTTTTT		FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92553675	C C	CCCTTCCT others(17): Show CCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02572.hp1 HG03195.hp2 others(3): Show HG01069.hp2 HG02572.hp1 HG03195.hp2 HG03471.hp2 HG03540.hp1 HG04204.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0008 a0035	a0001c0005 a0001c0006 a0002c0013 others(3): Show a0001c0005 a0001c0006 a0002c0013 a0005c0004 a0008c0021 a0035c0085	a0001c0005t0019 a0001c0006t0005 a0002c0013t0004 others(3): Show a0001c0005t0019 a0001c0006t0005 a0002c0013t0004 a0005c0004t0017 a0008c0021t0024 a0035c0085t0014	a0001c0005t0019g0089 a0001c0006t0005g0117 a0002c0013t0004g0059 others(3): Show a0001c0005t0019g0089 a0001c0006t0005g0117 a0002c0013t0004g0059 a0005c0004t0017g0058 a0008c0021t0024g0101 a0035c0085t0014g0108	6	118	0.0509	24	c.360 others(45): Show c.3607+28752_3607+28775dupCCTTCCTTCCTTCCTTCCTTCCTT		FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	3/27					INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92608720	C C	CAATAATA others(17): Show CAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02055.hp2 HG02080.hp1 others(9): Show HG01169.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02145.hp1 HG02615.hp1 HG02622.hp1 HG02965.hp2 HG03209.hp2 HG03225.hp2 HG06807.hp1 NA18906.hp1	a0003 a0004 a0008 others(7): Show a0003 a0004 a0008 a0010 a0015 a0023 a0040 a0041 a0046 a0048	a0003c0011 a0003c0030 a0004c0012 others(9): Show a0003c0011 a0003c0030 a0004c0012 a0008c0039 a0010c0072 a0010c0073 a0015c0075 a0023c0037 a0040c0056 a0041c0028 a0046c0067 a0048c0069	a0003c0011t0071 a0003c0030t0005 a0004c0012t0004 others(9): Show a0003c0011t0071 a0003c0030t0005 a0004c0012t0004 a0008c0039t0030 a0010c0072t0001 a0010c0073t0028 a0015c0075t0062 a0023c0037t0056 a0040c0056t0070 a0041c0028t0077 a0046c0067t0060 a0048c0069t0046	a0003c0011t0071g0019 a0003c0030t0005g0095 a0004c0012t0004g0044 others(9): Show a0003c0011t0071g0019 a0003c0030t0005g0095 a0004c0012t0004g0044 a0008c0039t0030g0104 a0010c0072t0001g0077 a0010c0073t0028g0052 a0015c0075t0062g0102 a0023c0037t0056g0100 a0040c0056t0070g0021 a0041c0028t0077g0005 a0046c0067t0060g0043 a0048c0069t0046g0056	12	118	0.1017	24	c.360 others(45): Show c.3607+83774_3607+83797dupATAATAATAATAATAATAATAATA		FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	3/27					INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92754627	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03453.hp1 NA18940.hp2 HG02280.hp1 HG03453.hp1 NA18940.hp2	a0004 a0020 a0036 a0004 a0020 a0036	a0004c0062 a0020c0016 a0036c0034 a0004c0062 a0020c0016 a0036c0034	a0004c0062t0059 a0020c0016t0031 a0036c0034t0050 a0004c0062t0059 a0020c0016t0031 a0036c0034t0050	a0004c0062t0059g0118 a0020c0016t0031g0036 a0036c0034t0050g0079 a0004c0062t0059g0118 a0020c0016t0031g0036 a0036c0034t0050g0079	3	118	0.0254	24	c.367 others(43): Show c.3670-7211_3670-7210insAAAAAAAAAAAAAAAAAAAAAAAA		FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27					INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT4_chr4_125309955_125497932	125423282	G G	GAAGTCCT others(17): Show GAAGTCCTGGATGGACTTCCATCAT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA19079.hp2 NA18973.hp2 NA19079.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0104 a0005c0004t0002g0111 a0005c0004t0002g0104 a0005c0004t0002g0111	2	320	0.0063	24	c.701 others(43): Show c.7018+6660_7018+6661insAAGTCCTGGATGGACTTCCATCAT		FAT4	ENSG00000196159.14	transcript	ENST00000394329.9	protein_coding	7/17						chr4	TogoVar
FAT4_chr4_125309955_125497932	125440610	T T	TGTGTGTG others(17): Show TGTGTGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02135.hp1 HG01243.hp1 HG02135.hp1	a0005 a0023 a0005 a0023	a0005c0101 a0023c0064 a0005c0101 a0023c0064	a0005c0101t0002 a0023c0064t0008 a0005c0101t0002 a0023c0064t0008	a0005c0101t0002g0123 a0023c0064t0008g0009 a0005c0101t0002g0123 a0023c0064t0008g0009	2	320	0.0063	24	c.720 others(43): Show c.7200-5682_7200-5681insTGTGTGAGAGAGAGAGAGAGAGAG		FAT4	ENSG00000196159.14	transcript	ENST00000394329.9	protein_coding	8/17					INFO_REALIGN_3_PRIME	chr4	TogoVar
FAXC_chr6_99266168_99354674	99269428	G G	GTGACAAT others(17): Show GTGACAATGGTGATGGTGGTGATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02257.hp2 HG02622.hp1 others(2): Show HG00735.hp2 HG02257.hp2 HG02622.hp1 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0062 a0001c0001t0072 others(1): Show a0001c0001t0042 a0001c0001t0062 a0001c0001t0072 a0001c0001t0116	a0001c0001t0042g0075 a0001c0001t0042g0101 a0001c0001t0062g0048 others(2): Show a0001c0001t0042g0075 a0001c0001t0042g0101 a0001c0001t0062g0048 a0001c0001t0072g0167 a0001c0001t0116g0264	5	398	0.0126	24	c.11 others(37): Show c.11735_*11736insTCATCACCACCATCACCATTGTCA		FAXC	ENSG00000146267.12	transcript	ENST00000389677.6	protein_coding					1739		chr6	TogoVar
FAXC_chr6_99266168_99354674	99288859	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18978.hp2 NA18998.hp1 others(1): Show NA18949.hp1 NA18978.hp2 NA18998.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0040 a0001c0001t0018 a0001c0001t0040	a0001c0001t0018g0066 a0001c0001t0018g0068 a0001c0001t0018g0070 others(1): Show a0001c0001t0018g0066 a0001c0001t0018g0068 a0001c0001t0018g0070 a0001c0001t0040g0065	4	398	0.0101	24	c.940 others(41): Show c.940+2821_940+2844dupGTGTGTGTGTGTGTGTGTGTGTGT		FAXC	ENSG00000146267.12	transcript	ENST00000389677.6	protein_coding	5/5						chr6	TogoVar
FAXDC2_chr5_154813492_154855603	154825650	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03486.hp1 HG04204.hp2 others(2): Show HG01934.hp2 HG03486.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0111 a0001c0001t0001g0151 others(2): Show a0001c0001t0001g0073 a0001c0001t0001g0111 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0237	5	310	0.0161	24	c.367 others(41): Show c.367-2059_367-2058insTTTTTTTTTTTTTTTTTTTTTTTT		FAXDC2	ENSG00000170271.11	transcript	ENST00000326080.10	protein_coding	5/8						chr5	TogoVar
FAXDC2_chr5_154813492_154855603	154835883	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	310	0.0032	24	c.49- others(37): Show c.49-973_49-950dupAAAAAAAAAAAAAAAAAAAAAAAA		FAXDC2	ENSG00000170271.11	transcript	ENST00000326080.10	protein_coding	2/8						chr5	TogoVar
FAXDC2_chr5_154813492_154855603	154850796	G G	GGCTTCCC others(17): Show GGCTTCCCTCCCAATTGAAAAACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	310	0.0032	24	c.-31 others(33): Show c.-315_-314insACGTTTTTCAATTGGGAGGGAAGC		FAXDC2	ENSG00000170271.11	transcript	ENST00000326080.10	protein_coding					194		chr5	TogoVar
FBF1_chr17_75904574_75946042	75907506	G G	GTATTTTT others(17): Show GTATTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 NA19043.hp1 HG01891.hp1 NA19043.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0033 a0004c0004t0001g0034 a0004c0004t0001g0033 a0004c0004t0001g0034	2	318	0.0063	24	c.32 others(35): Show c.3216_*3217insAAAAAAAAAAAAAAAAAAAAAATA		FBF1	ENSG00000188878.20	transcript	ENST00000636174.2	protein_coding					2067		chr17	TogoVar
FBLIM1_chr1_15753795_15791589	15787963	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0095 a0002c0002t0010g0095	1	354	0.0028	24	c.33 others(35): Show c.3302_*3303insATATATATATATATATATATATAT		FBLIM1	ENSG00000162458.13	transcript	ENST00000375766.8	protein_coding					1375		chr1	TogoVar
FBLN2_chr3_13544125_13643404	13554598	A A	AGTCCTTG others(17): Show AGTCCTTGGAGCAGAGACACTCACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.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 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0013 a0014 a0015 a0016 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0027 a0028 a0029 a0031	a0001c0003 a0001c0004 a0001c0005 others(69): Show a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0012 a0001c0015 a0001c0016 a0001c0017 a0001c0019 a0001c0023 a0001c0026 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0071 a0001c0073 a0001c0074 a0001c0075 a0001c0078 a0002c0001 a0002c0002 a0002c0010 a0002c0021 a0002c0025 a0002c0029 a0002c0062 a0002c0063 a0002c0069 a0003c0009 a0003c0011 a0003c0024 a0003c0060 a0003c0064 a0004c0013 a0004c0014 a0004c0028 a0004c0052 a0004c0055 a0004c0057 a0004c0058 a0005c0008 a0005c0018 a0005c0048 a0007c0031 a0007c0039 a0007c0040 a0007c0072 a0007c0076 a0008c0022 a0008c0038 a0009c0044 a0009c0045 a0009c0046 a0010c0027 a0013c0043 a0014c0041 a0015c0042 a0016c0070 a0018c0066 a0019c0061 a0020c0065 a0021c0059 a0022c0077 a0023c0047 a0024c0053 a0025c0054 a0027c0056 a0028c0079 a0029c0037 a0031c0086	a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 others(95): Show a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0003t0008 a0001c0004t0001 a0001c0004t0005 a0001c0005t0003 a0001c0005t0006 a0001c0005t0008 a0001c0006t0001 a0001c0007t0002 a0001c0007t0005 a0001c0012t0001 a0001c0012t0005 a0001c0015t0001 a0001c0016t0004 a0001c0016t0013 a0001c0016t0016 a0001c0017t0001 a0001c0019t0001 a0001c0019t0005 a0001c0023t0001 a0001c0023t0004 a0001c0026t0001 a0001c0026t0004 a0001c0033t0005 a0001c0034t0001 a0001c0035t0002 a0001c0036t0011 a0001c0071t0013 a0001c0073t0011 a0001c0074t0001 a0001c0075t0002 a0001c0078t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0006 a0002c0001t0018 a0002c0002t0001 a0002c0002t0005 a0002c0010t0001 a0002c0021t0002 a0002c0021t0020 a0002c0025t0005 a0002c0029t0005 a0002c0062t0011 a0002c0063t0007 a0002c0069t0001 a0003c0009t0003 a0003c0009t0007 a0003c0011t0002 a0003c0011t0003 a0003c0024t0001 a0003c0024t0005 a0003c0060t0005 a0003c0064t0007 a0004c0013t0001 a0004c0013t0004 a0004c0014t0008 a0004c0014t0010 a0004c0028t0004 a0004c0052t0004 a0004c0055t0008 a0004c0057t0004 a0004c0058t0010 a0005c0008t0004 a0005c0018t0004 a0005c0018t0009 a0005c0048t0004 a0007c0031t0001 a0007c0039t0010 a0007c0040t0019 a0007c0072t0001 a0007c0076t0001 a0008c0022t0001 a0008c0022t0003 a0008c0038t0009 a0009c0044t0010 a0009c0045t0012 a0009c0046t0004 a0010c0027t0008 a0013c0043t0001 a0014c0041t0004 a0015c0042t0001 a0016c0070t0007 a0018c0066t0002 a0019c0061t0001 a0020c0065t0002 a0021c0059t0001 a0022c0077t0002 a0023c0047t0017 a0024c0053t0004 a0025c0054t0004 a0027c0056t0004 a0028c0079t0001 a0029c0037t0001 a0031c0086t0004	a0001c0003t0002g0019 a0001c0003t0002g0038 a0001c0003t0002g0039 others(262): Show a0001c0003t0002g0019 a0001c0003t0002g0038 a0001c0003t0002g0039 a0001c0003t0002g0040 a0001c0003t0002g0209 a0001c0003t0002g0213 a0001c0003t0002g0218 a0001c0003t0002g0219 a0001c0003t0002g0220 a0001c0003t0002g0221 a0001c0003t0002g0225 a0001c0003t0002g0232 a0001c0003t0003g0003 a0001c0003t0003g0004 a0001c0003t0003g0217 a0001c0003t0006g0150 a0001c0003t0008g0193 a0001c0004t0001g0017 a0001c0004t0001g0034 a0001c0004t0001g0089 a0001c0004t0001g0210 a0001c0004t0001g0211 a0001c0004t0001g0216 a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0004t0001g0226 a0001c0004t0001g0227 a0001c0004t0001g0233 a0001c0004t0001g0236 a0001c0004t0001g0243 a0001c0004t0001g0253 a0001c0004t0005g0234 a0001c0004t0005g0247 a0001c0004t0005g0248 a0001c0005t0003g0050 a0001c0005t0006g0005 a0001c0005t0006g0052 a0001c0005t0006g0063 a0001c0005t0006g0066 a0001c0005t0006g0071 a0001c0005t0006g0072 a0001c0005t0006g0076 a0001c0005t0006g0134 a0001c0005t0006g0214 a0001c0005t0008g0199 a0001c0005t0008g0245 a0001c0006t0001g0018 a0001c0006t0001g0093 a0001c0006t0001g0153 a0001c0006t0001g0155 a0001c0006t0001g0156 a0001c0006t0001g0158 a0001c0006t0001g0159 a0001c0006t0001g0160 a0001c0006t0001g0168 a0001c0006t0001g0175 a0001c0006t0001g0190 a0001c0006t0001g0198 a0001c0007t0002g0092 a0001c0007t0002g0133 a0001c0007t0002g0161 a0001c0007t0002g0162 a0001c0007t0002g0166 a0001c0007t0002g0167 a0001c0007t0002g0170 a0001c0007t0002g0187 a0001c0007t0002g0188 a0001c0007t0005g0194 a0001c0012t0001g0250 a0001c0012t0001g0251 a0001c0012t0001g0255 a0001c0012t0001g0256 a0001c0012t0005g0252 a0001c0015t0001g0022 a0001c0015t0001g0023 a0001c0015t0001g0026 a0001c0015t0001g0240 a0001c0015t0001g0260 a0001c0016t0004g0053 a0001c0016t0004g0064 a0001c0016t0013g0073 a0001c0016t0016g0246 a0001c0017t0001g0157 a0001c0017t0001g0165 a0001c0017t0001g0169 a0001c0017t0001g0171 a0001c0019t0001g0025 a0001c0019t0001g0257 a0001c0019t0005g0258 a0001c0019t0005g0259 a0001c0023t0001g0049 a0001c0023t0004g0172 a0001c0023t0004g0173 a0001c0026t0001g0090 a0001c0026t0001g0231 a0001c0026t0004g0238 a0001c0033t0005g0212 a0001c0033t0005g0228 a0001c0034t0001g0001 a0001c0035t0002g0044 a0001c0035t0002g0202 a0001c0036t0011g0027 a0001c0036t0011g0028 a0001c0071t0013g0151 a0001c0073t0011g0254 a0001c0074t0001g0297 a0001c0075t0002g0224 a0001c0078t0001g0164 a0002c0001t0001g0176 a0002c0001t0001g0177 a0002c0001t0001g0186 a0002c0001t0002g0047 a0002c0001t0002g0048 a0002c0001t0002g0095 a0002c0001t0002g0099 a0002c0001t0002g0110 a0002c0001t0002g0111 a0002c0001t0002g0113 a0002c0001t0002g0122 a0002c0001t0002g0140 a0002c0001t0002g0143 a0002c0001t0002g0179 a0002c0001t0002g0181 a0002c0001t0002g0185 a0002c0001t0002g0205 a0002c0001t0002g0207 a0002c0001t0002g0229 a0002c0001t0002g0241 a0002c0001t0003g0032 a0002c0001t0003g0037 a0002c0001t0003g0057 a0002c0001t0003g0074 a0002c0001t0003g0077 a0002c0001t0003g0079 a0002c0001t0003g0087 a0002c0001t0003g0088 a0002c0001t0003g0103 a0002c0001t0003g0108 a0002c0001t0003g0123 a0002c0001t0003g0125 a0002c0001t0003g0180 a0002c0001t0006g0042 a0002c0001t0018g0300 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0030 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0046 a0002c0002t0001g0075 a0002c0002t0001g0080 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0094 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0102 a0002c0002t0001g0106 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0126 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0189 a0002c0002t0001g0206 a0002c0002t0001g0208 a0002c0002t0001g0230 a0002c0002t0005g0299 a0002c0010t0001g0015 a0002c0010t0001g0083 a0002c0010t0001g0097 a0002c0010t0001g0100 a0002c0010t0001g0101 a0002c0010t0001g0114 a0002c0010t0001g0130 a0002c0021t0002g0041 a0002c0021t0002g0104 a0002c0021t0020g0144 a0002c0025t0005g0109 a0002c0025t0005g0112 a0002c0025t0005g0132 a0002c0029t0005g0115 a0002c0029t0005g0192 a0002c0062t0011g0054 a0002c0063t0007g0124 a0002c0069t0001g0138 a0003c0009t0003g0061 a0003c0009t0003g0062 a0003c0009t0007g0058 a0003c0009t0007g0059 a0003c0009t0007g0107 a0003c0009t0007g0142 a0003c0009t0007g0178 a0003c0011t0002g0116 a0003c0011t0003g0082 a0003c0011t0003g0152 a0003c0011t0003g0174 a0003c0024t0001g0091 a0003c0024t0001g0182 a0003c0024t0005g0249 a0003c0060t0005g0043 a0003c0064t0007g0060 a0004c0013t0001g0298 a0004c0013t0001g0301 a0004c0013t0004g0031 a0004c0013t0004g0196 a0004c0013t0004g0235 a0004c0014t0008g0200 a0004c0014t0010g0195 a0004c0028t0004g0024 a0004c0028t0004g0204 a0004c0052t0004g0203 a0004c0055t0008g0146 a0004c0057t0004g0008 a0004c0058t0010g0011 a0005c0008t0004g0148 a0005c0008t0004g0149 a0005c0008t0004g0242 a0005c0018t0004g0009 a0005c0018t0009g0007 a0005c0018t0009g0012 a0005c0018t0009g0070 a0005c0048t0004g0197 a0007c0031t0001g0136 a0007c0031t0001g0137 a0007c0039t0010g0056 a0007c0040t0019g0145 a0007c0072t0001g0215 a0007c0076t0001g0021 a0008c0022t0001g0296 a0008c0022t0003g0045 a0008c0022t0003g0237 a0008c0038t0009g0135 a0009c0044t0010g0006 a0009c0045t0012g0029 a0009c0046t0004g0261 a0010c0027t0008g0067 a0010c0027t0008g0069 a0013c0043t0001g0163 a0014c0041t0004g0068 a0015c0042t0001g0244 a0016c0070t0007g0020 a0018c0066t0002g0081 a0019c0061t0001g0055 a0020c0065t0002g0127 a0021c0059t0001g0105 a0022c0077t0002g0191 a0023c0047t0017g0051 a0024c0053t0004g0147 a0025c0054t0004g0201 a0027c0056t0004g0010 a0028c0079t0001g0078 a0029c0037t0001g0154 a0031c0086t0004g0065	266	312	0.8526	24	c.-42 others(41): Show c.-42+5395_-42+5396insTGGAGCAGAGACACTCACTGTCCT		FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
FBLN2_chr3_13544125_13643404	13610897	A A	AATTATTA others(17): Show AATTATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0004 a0004	a0004c0058 a0004c0058	a0004c0058t0010 a0004c0058t0010	a0004c0058t0010g0011 a0004c0058t0010g0011	1	312	0.0032	24	c.154 others(43): Show c.1548+1262_1548+1285dupATTATTATTATTATTATTATTATT		FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
FBLN2_chr3_13544125_13643404	13612294	C C	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01433.hp2 HG01884.hp1 others(23): Show HG01169.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01981.hp2 HG02040.hp1 HG02055.hp2 HG02145.hp2 HG02155.hp1 HG02280.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02698.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03209.hp2 HG03486.hp2 HG04199.hp2 HG06807.hp1 NA18612.hp1 NA19030.hp2 NA19043.hp2 NA19074.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0012 a0016 a0022	a0001c0004 a0001c0007 a0001c0012 others(18): Show a0001c0004 a0001c0007 a0001c0012 a0001c0015 a0001c0023 a0001c0036 a0001c0073 a0002c0002 a0002c0030 a0003c0011 a0004c0013 a0004c0014 a0004c0058 a0005c0008 a0007c0076 a0008c0022 a0008c0038 a0009c0045 a0012c0085 a0016c0070 a0022c0077	a0001c0004t0005 a0001c0007t0002 a0001c0012t0001 others(19): Show a0001c0004t0005 a0001c0007t0002 a0001c0012t0001 a0001c0015t0001 a0001c0023t0001 a0001c0036t0011 a0001c0073t0011 a0002c0002t0001 a0002c0030t0001 a0003c0011t0003 a0004c0013t0004 a0004c0014t0002 a0004c0014t0008 a0004c0058t0010 a0005c0008t0004 a0007c0076t0001 a0008c0022t0003 a0008c0038t0009 a0009c0045t0012 a0012c0085t0001 a0016c0070t0007 a0022c0077t0002	a0001c0004t0005g0247 a0001c0007t0002g0167 a0001c0012t0001g0251 others(23): Show a0001c0004t0005g0247 a0001c0007t0002g0167 a0001c0012t0001g0251 a0001c0015t0001g0022 a0001c0023t0001g0049 a0001c0036t0011g0027 a0001c0073t0011g0254 a0002c0002t0001g0086 a0002c0002t0001g0267 a0002c0030t0001g0273 a0003c0011t0003g0082 a0003c0011t0003g0174 a0004c0013t0004g0031 a0004c0013t0004g0196 a0004c0013t0004g0235 a0004c0014t0002g0281 a0004c0014t0008g0200 a0004c0058t0010g0011 a0005c0008t0004g0242 a0007c0076t0001g0021 a0008c0022t0003g0237 a0008c0038t0009g0135 a0009c0045t0012g0029 a0012c0085t0001g0302 a0016c0070t0007g0020 a0022c0077t0002g0191	26	312	0.0833	24	c.154 others(43): Show c.1549-1665_1549-1642dupCTTTCTTTCTTTCTTTCTTTCTTT		FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
FBLN2_chr3_13544125_13643404	13633954	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00733.hp1 HG01168.hp2 others(15): Show HG00673.hp1 HG00733.hp1 HG01168.hp2 HG01346.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG02165.hp2 HG02523.hp1 HG02630.hp1 HG02897.hp2 HG03017.hp2 HG04199.hp1 NA18966.hp2 NA18977.hp1 NA19005.hp2 NA19009.hp1 NA20300.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0007 a0014 a0015	a0001c0003 a0001c0004 a0001c0006 others(8): Show a0001c0003 a0001c0004 a0001c0006 a0001c0017 a0002c0001 a0002c0002 a0004c0013 a0006c0020 a0007c0031 a0014c0041 a0015c0042	a0001c0003t0002 a0001c0004t0001 a0001c0006t0001 others(9): Show a0001c0003t0002 a0001c0004t0001 a0001c0006t0001 a0001c0017t0001 a0002c0001t0002 a0002c0001t0003 a0002c0002t0001 a0004c0013t0001 a0006c0020t0004 a0007c0031t0001 a0014c0041t0004 a0015c0042t0001	a0001c0003t0002g0219 a0001c0003t0002g0225 a0001c0004t0001g0034 others(15): Show a0001c0003t0002g0219 a0001c0003t0002g0225 a0001c0004t0001g0034 a0001c0006t0001g0018 a0001c0006t0001g0155 a0001c0017t0001g0157 a0002c0001t0002g0095 a0002c0001t0002g0185 a0002c0001t0003g0037 a0002c0002t0001g0131 a0002c0002t0001g0139 a0002c0002t0001g0184 a0002c0002t0001g0189 a0004c0013t0001g0298 a0006c0020t0004g0306 a0007c0031t0001g0136 a0014c0041t0004g0068 a0015c0042t0001g0244	18	312	0.0577	24	c.321 others(43): Show c.3215-2473_3215-2450dupCACACACACACACACACACACACA		FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
FBLN7_chr2_112133385_112193218	112134887	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02630.hp1 HG02970.hp1 others(13): Show HG01255.hp2 HG02630.hp1 HG02970.hp1 HG03654.hp2 HG04199.hp2 NA18957.hp2 NA18987.hp1 NA18988.hp2 NA18993.hp1 NA18994.hp2 NA18999.hp1 NA19004.hp2 NA19005.hp1 NA19074.hp2 NA19079.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0022 others(12): Show a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0135 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0246 a0001c0001t0002g0202	16	346	0.0462	24	c.-37 others(35): Show c.-3769_-3768insTTTTTTTTTTTTTTTTTTTTTTTT		FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding					3497		chr2	TogoVar
FBLN7_chr2_112133385_112193218	112160846	G G	GCGCGCAC others(17): Show GCGCGCACACACGCACACGCGCACA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA20805.hp1 NA19030.hp2 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0056 a0002c0002t0003g0075 a0002c0002t0002g0056 a0002c0002t0003g0075	2	346	0.0058	24	c.235 others(41): Show c.235+1014_235+1015insGCACACACGCACACGCGCACACGC		FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
FBLN7_chr2_112133385_112193218	112163723	G G	GTCAGGCT others(17): Show GTCAGGCTGCTTCCTGCCTGGGCTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02970.hp1 NA19030.hp2 others(1): Show HG01891.hp2 HG02970.hp1 NA19030.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 a0001c0001t0001 a0002c0002t0002 a0002c0002t0003	a0001c0001t0001g0188 a0002c0002t0002g0056 a0002c0002t0003g0075 others(1): Show a0001c0001t0001g0188 a0002c0002t0002g0056 a0002c0002t0003g0075 a0002c0002t0003g0084	4	346	0.0116	24	c.236 others(41): Show c.236-1278_236-1277insTCAGGCTGCTTCCTGCCTGGGCTC		FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	2/7						chr2	TogoVar
FBLN7_chr2_112133385_112193218	112167869	C C	CGTTATGT others(17): Show CGTTATGTTATGTTATTTATGTTAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00642.hp2 others(49): Show HG00099.hp2 HG00639.hp2 HG00642.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01169.hp1 HG01255.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG02056.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 NA18939.hp2 NA18947.hp1 NA18975.hp2 NA18994.hp2 NA19007.hp1 NA19030.hp1 NA19074.hp1 NA19090.hp1 NA21309.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0010	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0007c0011 a0010c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0005t0007 a0002c0002t0001 a0007c0011t0001 a0010c0006t0009	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0027 others(44): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0246 a0001c0001t0001g0265 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0004g0062 a0001c0001t0004g0064 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0005g0025 a0001c0001t0005g0191 a0001c0001t0005g0244 a0001c0001t0006g0063 a0001c0005t0007g0011 a0002c0002t0001g0154 a0007c0011t0001g0205 a0010c0006t0009g0247	52	346	0.1503	24	c.406 others(41): Show c.406+2713_406+2714insTTATGTTATGTTATGTTATGTTAT		FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
FBN1_chr15_48403313_48650709	48417448	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	288	0.0035	24	c.782 others(43): Show c.7820-1682_7820-1681insGGAAGGAAGGAAGGAAGGAAGGAA		FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	63/65						chr15	TogoVar
FBN1_chr15_48403313_48650709	48435766	G G	GTGTATAT others(17): Show GTGTATATATATGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG01123.hp2 others(50): Show HG00621.hp2 HG00673.hp2 HG01123.hp2 HG01167.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01516.hp1 HG01928.hp2 HG02027.hp1 HG02135.hp2 HG02155.hp1 HG02280.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03490.hp1 HG03579.hp2 HG03688.hp2 HG03831.hp2 HG04115.hp2 HG04228.hp2 NA18747.hp1 NA18945.hp1 NA18947.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18969.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18990.hp2 NA18994.hp2 NA19007.hp1 NA19030.hp2 NA19081.hp2 NA19084.hp1 NA19087.hp1 NA19240.hp1 NA20129.hp1 NA20905.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0015 a0002c0009 a0009c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0015 a0001c0001t0024 a0001c0001t0026 a0001c0002t0001 a0001c0002t0007 a0001c0005t0001 a0001c0005t0003 a0001c0005t0007 a0001c0015t0001 a0002c0009t0001 a0009c0014t0001	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 others(50): Show a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0279 a0001c0001t0002g0087 a0001c0001t0010g0225 a0001c0001t0015g0097 a0001c0001t0015g0276 a0001c0001t0024g0112 a0001c0001t0026g0268 a0001c0002t0001g0011 a0001c0002t0001g0020 a0001c0002t0001g0051 a0001c0002t0001g0124 a0001c0002t0007g0021 a0001c0005t0001g0198 a0001c0005t0001g0201 a0001c0005t0003g0204 a0001c0005t0007g0197 a0001c0005t0007g0205 a0001c0005t0007g0206 a0001c0005t0007g0207 a0001c0015t0001g0219 a0002c0009t0001g0211 a0002c0009t0001g0212 a0009c0014t0001g0227	53	288	0.1840	24	c.649 others(43): Show c.6497-1054_6497-1053insTATATATACACACATATATATACA		FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	53/65						chr15	TogoVar
FBN1_chr15_48403313_48650709	48456843	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0126 a0001c0002t0002g0126	1	288	0.0035	24	c.529 others(40): Show c.5297-105_5297-82dupACACACACACACACACACACACAC		FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	43/65						chr15	TogoVar
FBN1_chr15_48403313_48650709	48567998	T T	TAAGAAAG others(17): Show TAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18945.hp2 NA18969.hp2 others(3): Show NA18944.hp2 NA18945.hp2 NA18969.hp2 NA18999.hp2 NA19007.hp2 NA19065.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0006 a0002c0003t0005 a0002c0003t0006	a0002c0003t0005g0144 a0002c0003t0005g0159 a0002c0003t0005g0281 others(3): Show a0002c0003t0005g0144 a0002c0003t0005g0159 a0002c0003t0005g0281 a0002c0003t0006g0151 a0002c0003t0006g0158 a0002c0003t0006g0167	6	288	0.0208	24	c.538 others(43): Show c.538+28261_538+28284dupTCTTTCTTTCTTTCTTTCTTTCTT		FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65						chr15	TogoVar
FBN1_chr15_48403313_48650709	48568049	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGAAAGAAGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18946.hp1 NA18992.hp2 others(1): Show HG00408.hp1 NA18946.hp1 NA18992.hp2 NA19074.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0003 a0006c0018 a0001c0001 a0002c0003 a0006c0018	a0001c0001t0001 a0001c0001t0009 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0009 a0002c0003t0001 a0006c0018t0001	a0001c0001t0001g0090 a0001c0001t0009g0258 a0002c0003t0001g0162 others(1): Show a0001c0001t0001g0090 a0001c0001t0009g0258 a0002c0003t0001g0162 a0006c0018t0001g0179	4	288	0.0139	24	c.538 others(43): Show c.538+28233_538+28234insTCTTCTTTCTTTCTTTCTTTCTTT		FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65						chr15	TogoVar
FBN1_chr15_48403313_48650709	48568049	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA18962.hp2 NA19030.hp2 others(1): Show HG01517.hp2 NA18962.hp2 NA19030.hp2 NA19077.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0005 a0011c0023 a0001c0001 a0001c0005 a0011c0023	a0001c0001t0001 a0001c0001t0002 a0001c0005t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0007 a0011c0023t0001	a0001c0001t0001g0183 a0001c0001t0002g0072 a0001c0005t0007g0207 others(1): Show a0001c0001t0001g0183 a0001c0001t0002g0072 a0001c0005t0007g0207 a0011c0023t0001g0234	4	288	0.0139	24	c.538 others(43): Show c.538+28233_538+28234insTCTTTCTTCTTTCTTTCTTTCTTT		FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65						chr15	TogoVar
FBN1_chr15_48403313_48650709	48568049	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02809.hp1 others(6): Show HG02257.hp2 HG02280.hp2 HG02809.hp1 HG02818.hp2 HG03130.hp1 HG03225.hp2 HG03453.hp1 HG03834.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0009	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0005t0003 a0001c0005t0007 a0002c0009t0001	a0001c0001t0002g0288 a0001c0001t0005g0141 a0001c0001t0010g0225 others(6): Show a0001c0001t0002g0288 a0001c0001t0005g0141 a0001c0001t0010g0225 a0001c0002t0001g0011 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0005t0003g0209 a0001c0005t0007g0206 a0002c0009t0001g0212	9	288	0.0313	24	c.538 others(43): Show c.538+28233_538+28234insTCTTTCTTTCTTCTTTCTTTCTTT		FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65						chr15	TogoVar
FBN1_chr15_48403313_48650709	48568049	G G	GAAAGAAG others(17): Show GAAAGAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0201 a0001c0005t0001g0201	1	288	0.0035	24	c.538 others(43): Show c.538+28233_538+28234insTCTTTCTTTCTTTCTTTCTTCTTT		FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65						chr15	TogoVar
FBN2_chr5_128252909_128543245	128434394	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03540.hp1 NA18967.hp2 others(2): Show HG02630.hp1 HG03540.hp1 NA18967.hp2 NA18998.hp1 NA19077.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0008 a0004c0005 a0006c0025 a0001c0008 a0004c0005 a0006c0025	a0001c0008t0028 a0004c0005t0001 a0006c0025t0009 a0001c0008t0028 a0004c0005t0001 a0006c0025t0009	a0001c0008t0028g0113 a0004c0005t0001g0195 a0004c0005t0001g0196 others(2): Show a0001c0008t0028g0113 a0004c0005t0001g0195 a0004c0005t0001g0196 a0004c0005t0001g0198 a0006c0025t0009g0091	5	236	0.0212	24	c.952 others(43): Show c.952+12063_952+12086dupTATATATATATATATATATATATA		FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	7/64						chr5	TogoVar
FBN2_chr5_128252909_128543245	128434394	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0027 a0002c0029t0027	a0002c0029t0027g0118 a0002c0029t0027g0118	1	236	0.0042	24	c.952 others(43): Show c.952+12086_952+12087insTATATATATATATATATATATACA		FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	7/64						chr5	TogoVar
FBN2_chr5_128252909_128543245	128434424	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01358.hp2 HG02572.hp1 others(5): Show HG01346.hp2 HG01358.hp2 HG02572.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03831.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0008 a0001c0009 a0001c0011 others(2): Show a0001c0008 a0001c0009 a0001c0011 a0003c0006 a0003c0013	a0001c0008t0025 a0001c0009t0002 a0001c0011t0010 others(3): Show a0001c0008t0025 a0001c0009t0002 a0001c0011t0010 a0001c0011t0022 a0003c0006t0004 a0003c0013t0007	a0001c0008t0025g0115 a0001c0009t0002g0040 a0001c0009t0002g0049 others(5): Show a0001c0008t0025g0115 a0001c0009t0002g0040 a0001c0009t0002g0049 a0001c0011t0010g0104 a0001c0011t0022g0061 a0003c0006t0004g0042 a0003c0013t0007g0171 a0003c0013t0007g0203	8	236	0.0339	24	c.952 others(43): Show c.952+12056_952+12057insCATATATATATATATATATATATA		FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	7/64						chr5	TogoVar
FBN3_chr19_8060402_8154592	8130691	A A	AAAAGAAA others(17): Show AAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0021 a0021	a0021c0015 a0021c0015	a0021c0015t0001 a0021c0015t0001	a0021c0015t0001g0112 a0021c0015t0001g0112	1	380	0.0026	24	c.204 others(41): Show c.2044+543_2044+544insCTTTTCTTTTCTTTTCTTTTCTTT		FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63						chr19	TogoVar
FBP1_chr9_94598133_94644518	94619874	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	358	0.0028	24	c.333 others(39): Show c.333+431_333+454dupTTTTTTTTTTTTTTTTTTTTTTTT		FBP1	ENSG00000165140.12	transcript	ENST00000375326.9	protein_coding	2/6						chr9	TogoVar
FBP2_chr9_94553720_94598824	94579050	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	380	0.0026	24	c.426 others(41): Show c.426+5526_426+5527insTTTTTTTTTTTTTTTTTTTTTTTT		FBP2	ENSG00000130957.5	transcript	ENST00000375337.4	protein_coding	3/6						chr9	TogoVar
FBRSL1_chr12_132485151_132590188	132565508	T T	TGTACACG others(17): Show TGTACACGTACCCGAGTGTGCTCAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02109.hp1 others(5): Show HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02622.hp2 HG02970.hp1 HG03130.hp2 HG03195.hp2	a0000 a0001 a0015 others(1): Show a0000 a0001 a0015 a0024	a0000c0071 a0000c0080 a0001c0003 others(3): Show a0000c0071 a0000c0080 a0001c0003 a0001c0012 a0015c0037 a0024c0061	a0000c0071t0018 a0000c0080t0045 a0001c0003t0026 others(3): Show a0000c0071t0018 a0000c0080t0045 a0001c0003t0026 a0001c0012t0009 a0015c0037t0018 a0024c0061t0009	a0000c0071t0018g0069 a0000c0080t0045g0073 a0001c0003t0026g0062 others(5): Show a0000c0071t0018g0069 a0000c0080t0045g0073 a0001c0003t0026g0062 a0001c0012t0009g0088 a0001c0012t0009g0089 a0015c0037t0018g0070 a0015c0037t0018g0072 a0024c0061t0009g0067	8	348	0.0230	24	c.646 others(41): Show c.646-1950_646-1949insCGTACACGTACCCGAGTGTGCTCA		FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132565512	C C	CACCTACC others(17): Show CACCTACCCGAGTGTGCTCACGTAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0025 a0025	a0025c0056 a0025c0056	a0025c0056t0052 a0025c0056t0052	a0025c0056t0052g0085 a0025c0056t0052g0085	1	348	0.0029	24	c.646 others(41): Show c.646-1967_646-1966insCTACCCGAGTGTGCTCACGTATAC		FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132565512	C C	CACGTACC others(17): Show CACGTACCCGAGTGTGCTCACGTAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(206): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0000 a0001 a0002 others(22): Show a0000 a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0011 a0013 a0014 a0016 a0017 a0019 a0020 a0021 a0023 a0026 a0029 a0030 a0031 a0032 a0033 a0034	a0000c0009 a0000c0014 a0000c0015 others(49): Show a0000c0009 a0000c0014 a0000c0015 a0000c0019 a0000c0022 a0000c0023 a0000c0035 a0000c0036 a0000c0039 a0000c0042 a0000c0084 a0000c0085 a0000c0089 a0001c0003 a0002c0002 a0002c0004 a0002c0024 a0002c0055 a0002c0074 a0002c0081 a0002c0087 a0003c0001 a0003c0007 a0003c0044 a0003c0046 a0003c0048 a0004c0013 a0004c0025 a0005c0031 a0005c0032 a0007c0010 a0008c0028 a0008c0045 a0008c0047 a0009c0017 a0011c0016 a0013c0033 a0013c0060 a0014c0038 a0016c0026 a0017c0029 a0019c0082 a0020c0083 a0021c0076 a0023c0073 a0026c0072 a0029c0059 a0030c0078 a0031c0049 a0032c0040 a0033c0041 a0034c0088	a0000c0009t0001 a0000c0009t0003 a0000c0009t0008 others(82): Show a0000c0009t0001 a0000c0009t0003 a0000c0009t0008 a0000c0014t0001 a0000c0014t0003 a0000c0014t0033 a0000c0015t0003 a0000c0019t0011 a0000c0022t0001 a0000c0023t0002 a0000c0035t0007 a0000c0035t0048 a0000c0036t0001 a0000c0036t0003 a0000c0039t0005 a0000c0039t0023 a0000c0042t0001 a0000c0084t0036 a0000c0085t0005 a0000c0089t0008 a0001c0003t0003 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0024 a0002c0002t0025 a0002c0002t0044 a0002c0002t0053 a0002c0004t0001 a0002c0004t0003 a0002c0004t0008 a0002c0004t0034 a0002c0004t0054 a0002c0024t0002 a0002c0055t0002 a0002c0074t0002 a0002c0081t0002 a0002c0087t0010 a0003c0001t0001 a0003c0001t0003 a0003c0001t0004 a0003c0001t0008 a0003c0001t0017 a0003c0001t0030 a0003c0001t0032 a0003c0007t0012 a0003c0007t0043 a0003c0044t0003 a0003c0046t0003 a0003c0048t0001 a0004c0013t0005 a0004c0025t0015 a0004c0025t0023 a0005c0031t0001 a0005c0031t0029 a0005c0032t0002 a0007c0010t0005 a0007c0010t0015 a0007c0010t0041 a0008c0028t0009 a0008c0045t0004 a0008c0047t0004 a0009c0017t0005 a0009c0017t0009 a0011c0016t0002 a0011c0016t0003 a0013c0033t0002 a0013c0033t0007 a0013c0060t0002 a0014c0038t0002 a0016c0026t0001 a0016c0026t0003 a0017c0029t0001 a0017c0029t0003 a0019c0082t0005 a0020c0083t0005 a0021c0076t0015 a0023c0073t0002 a0026c0072t0002 a0029c0059t0002 a0030c0078t0047 a0031c0049t0005 a0032c0040t0001 a0033c0041t0001 a0034c0088t0028	a0000c0009t0001g0161 a0000c0009t0001g0224 a0000c0009t0001g0227 others(205): Show a0000c0009t0001g0161 a0000c0009t0001g0224 a0000c0009t0001g0227 a0000c0009t0001g0231 a0000c0009t0003g0229 a0000c0009t0008g0179 a0000c0014t0001g0148 a0000c0014t0001g0208 a0000c0014t0003g0191 a0000c0014t0033g0165 a0000c0015t0003g0011 a0000c0019t0011g0313 a0000c0022t0001g0118 a0000c0022t0001g0124 a0000c0022t0001g0134 a0000c0023t0002g0244 a0000c0023t0002g0288 a0000c0023t0002g0296 a0000c0035t0007g0274 a0000c0035t0048g0312 a0000c0036t0001g0138 a0000c0036t0003g0310 a0000c0039t0005g0324 a0000c0039t0023g0331 a0000c0042t0001g0219 a0000c0084t0036g0320 a0000c0085t0005g0321 a0000c0089t0008g0162 a0001c0003t0003g0012 a0001c0003t0003g0013 a0001c0003t0003g0014 a0001c0003t0003g0015 a0002c0002t0002g0003 a0002c0002t0002g0060 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0261 a0002c0002t0002g0269 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0337 a0002c0002t0003g0282 a0002c0002t0007g0253 a0002c0002t0007g0257 a0002c0002t0007g0275 a0002c0002t0007g0278 a0002c0002t0007g0294 a0002c0002t0007g0308 a0002c0002t0024g0079 a0002c0002t0024g0080 a0002c0002t0025g0306 a0002c0002t0044g0279 a0002c0002t0053g0307 a0002c0004t0001g0092 a0002c0004t0001g0105 a0002c0004t0001g0106 a0002c0004t0001g0117 a0002c0004t0001g0119 a0002c0004t0001g0120 a0002c0004t0001g0121 a0002c0004t0001g0133 a0002c0004t0001g0137 a0002c0004t0001g0139 a0002c0004t0001g0140 a0002c0004t0001g0141 a0002c0004t0001g0263 a0002c0004t0003g0104 a0002c0004t0003g0122 a0002c0004t0003g0273 a0002c0004t0008g0071 a0002c0004t0008g0087 a0002c0004t0034g0107 a0002c0004t0054g0281 a0002c0024t0002g0265 a0002c0024t0002g0342 a0002c0024t0002g0343 a0002c0055t0002g0037 a0002c0074t0002g0150 a0002c0081t0002g0344 a0002c0087t0010g0149 a0003c0001t0001g0002 a0003c0001t0001g0152 a0003c0001t0001g0153 a0003c0001t0001g0155 a0003c0001t0001g0160 a0003c0001t0001g0172 a0003c0001t0001g0173 a0003c0001t0001g0174 a0003c0001t0001g0178 a0003c0001t0001g0198 a0003c0001t0001g0201 a0003c0001t0001g0202 a0003c0001t0001g0203 a0003c0001t0001g0204 a0003c0001t0001g0205 a0003c0001t0001g0206 a0003c0001t0001g0207 a0003c0001t0001g0210 a0003c0001t0001g0211 a0003c0001t0001g0212 a0003c0001t0001g0215 a0003c0001t0001g0216 a0003c0001t0001g0218 a0003c0001t0001g0220 a0003c0001t0001g0226 a0003c0001t0001g0228 a0003c0001t0001g0230 a0003c0001t0001g0232 a0003c0001t0001g0233 a0003c0001t0001g0234 a0003c0001t0003g0154 a0003c0001t0003g0187 a0003c0001t0003g0188 a0003c0001t0003g0193 a0003c0001t0003g0197 a0003c0001t0003g0222 a0003c0001t0003g0223 a0003c0001t0004g0192 a0003c0001t0008g0156 a0003c0001t0008g0157 a0003c0001t0008g0180 a0003c0001t0008g0181 a0003c0001t0008g0182 a0003c0001t0008g0185 a0003c0001t0008g0186 a0003c0001t0017g0168 a0003c0001t0017g0169 a0003c0001t0017g0171 a0003c0001t0030g0189 a0003c0001t0032g0170 a0003c0007t0012g0158 a0003c0007t0012g0159 a0003c0007t0012g0163 a0003c0007t0012g0164 a0003c0007t0012g0196 a0003c0007t0012g0235 a0003c0007t0043g0176 a0003c0044t0003g0214 a0003c0046t0003g0221 a0003c0048t0001g0199 a0004c0013t0005g0317 a0004c0013t0005g0322 a0004c0013t0005g0325 a0004c0013t0005g0327 a0004c0013t0005g0329 a0004c0025t0015g0285 a0004c0025t0015g0287 a0004c0025t0023g0277 a0005c0031t0001g0258 a0005c0031t0029g0061 a0005c0032t0002g0017 a0005c0032t0002g0316 a0007c0010t0005g0237 a0007c0010t0005g0319 a0007c0010t0005g0323 a0007c0010t0005g0328 a0007c0010t0015g0332 a0007c0010t0041g0330 a0008c0028t0009g0190 a0008c0045t0004g0200 a0008c0047t0004g0209 a0009c0017t0005g0333 a0009c0017t0005g0335 a0009c0017t0005g0336 a0009c0017t0009g0334 a0011c0016t0002g0091 a0011c0016t0002g0259 a0011c0016t0002g0260 a0011c0016t0003g0303 a0013c0033t0002g0247 a0013c0033t0007g0280 a0013c0060t0002g0003 a0014c0038t0002g0276 a0014c0038t0002g0345 a0016c0026t0001g0167 a0016c0026t0003g0194 a0017c0029t0001g0195 a0017c0029t0003g0166 a0019c0082t0005g0318 a0020c0083t0005g0326 a0021c0076t0015g0286 a0023c0073t0002g0238 a0026c0072t0002g0240 a0029c0059t0002g0311 a0030c0078t0047g0293 a0031c0049t0005g0225 a0032c0040t0001g0213 a0033c0041t0001g0217 a0034c0088t0028g0341	209	348	0.6006	24	c.646 others(41): Show c.646-1950_646-1949insCGTATACGTACCCGAGTGTGCTCA		FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132565512	C C	CACGTACC others(17): Show CACGTACCCGAGTGTGCTCGCGTAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0000 a0000	a0000c0063 a0000c0063	a0000c0063t0051 a0000c0063t0051	a0000c0063t0051g0086 a0000c0063t0051g0086	1	348	0.0029	24	c.646 others(41): Show c.646-1951_646-1950insGCGTATACGTACCCGAGTGTGCTC		FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132565545	G G	GAGTGTGC others(17): Show GAGTGTGCTCACGTACACGTACCCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp2 HG01069.hp2 others(48): Show HG00140.hp2 HG00609.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01361.hp2 HG01516.hp1 HG01517.hp2 HG01934.hp2 HG02055.hp1 HG02056.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(5): Show a0000 a0001 a0002 a0005 a0006 a0008 a0010 a0012	a0000c0019 a0000c0020 a0000c0030 others(16): Show a0000c0019 a0000c0020 a0000c0030 a0000c0043 a0000c0057 a0000c0058 a0000c0062 a0001c0005 a0001c0006 a0001c0011 a0001c0086 a0002c0004 a0002c0050 a0005c0052 a0006c0008 a0008c0027 a0010c0034 a0010c0064 a0012c0018	a0000c0019t0006 a0000c0020t0010 a0000c0030t0019 others(29): Show a0000c0019t0006 a0000c0020t0010 a0000c0030t0019 a0000c0043t0011 a0000c0057t0011 a0000c0058t0009 a0000c0062t0055 a0001c0005t0005 a0001c0005t0006 a0001c0005t0011 a0001c0006t0009 a0001c0011t0019 a0001c0011t0039 a0001c0011t0040 a0001c0011t0046 a0001c0011t0049 a0001c0086t0009 a0002c0004t0001 a0002c0004t0002 a0002c0004t0031 a0002c0050t0001 a0005c0052t0006 a0006c0008t0005 a0006c0008t0007 a0006c0008t0025 a0008c0027t0011 a0008c0027t0026 a0010c0034t0005 a0010c0034t0006 a0010c0064t0009 a0012c0018t0009 a0012c0018t0011	a0000c0019t0006g0127 a0000c0020t0010g0126 a0000c0030t0019g0145 others(48): Show a0000c0019t0006g0127 a0000c0020t0010g0126 a0000c0030t0019g0145 a0000c0030t0019g0147 a0000c0043t0011g0177 a0000c0057t0011g0066 a0000c0058t0009g0110 a0000c0062t0055g0142 a0001c0005t0005g0103 a0001c0005t0005g0115 a0001c0005t0006g0094 a0001c0005t0006g0095 a0001c0005t0006g0096 a0001c0005t0006g0099 a0001c0005t0006g0101 a0001c0005t0006g0102 a0001c0005t0006g0266 a0001c0005t0006g0267 a0001c0005t0006g0268 a0001c0005t0006g0295 a0001c0005t0011g0125 a0001c0005t0011g0144 a0001c0006t0009g0108 a0001c0006t0009g0111 a0001c0006t0009g0113 a0001c0011t0019g0146 a0001c0011t0039g0339 a0001c0011t0040g0338 a0001c0011t0046g0239 a0001c0011t0049g0340 a0001c0086t0009g0129 a0002c0004t0001g0130 a0002c0004t0002g0114 a0002c0004t0031g0128 a0002c0050t0001g0090 a0005c0052t0006g0093 a0006c0008t0005g0252 a0006c0008t0007g0151 a0006c0008t0007g0236 a0006c0008t0007g0254 a0006c0008t0007g0255 a0006c0008t0007g0256 a0006c0008t0025g0251 a0008c0027t0011g0183 a0008c0027t0026g0175 a0010c0034t0005g0116 a0010c0034t0006g0100 a0010c0064t0009g0109 a0012c0018t0009g0065 a0012c0018t0011g0063 a0012c0018t0011g0064	51	348	0.1466	24	c.646 others(41): Show c.646-1929_646-1928insTCACGTACACGTACCCAAGTGTGC		FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132578343	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00597.hp1 others(55): Show HG00099.hp1 HG00140.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01106.hp1 HG01123.hp2 HG01256.hp1 HG01261.hp2 HG01516.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02165.hp1 HG02280.hp1 HG02300.hp2 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03225.hp1 HG03471.hp2 HG03492.hp1 HG03688.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18952.hp2 NA18970.hp2 NA18994.hp1 NA19002.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19057.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19090.hp2 NA19091.hp2 NA20752.hp2	a0000 a0001 a0002 others(4): Show a0000 a0001 a0002 a0003 a0005 a0006 a0033	a0000c0009 a0000c0015 a0000c0042 others(13): Show a0000c0009 a0000c0015 a0000c0042 a0001c0003 a0001c0005 a0002c0002 a0002c0004 a0002c0050 a0003c0001 a0003c0044 a0003c0046 a0005c0031 a0005c0051 a0005c0054 a0006c0008 a0033c0041	a0000c0009t0001 a0000c0009t0003 a0000c0015t0035 others(24): Show a0000c0009t0001 a0000c0009t0003 a0000c0015t0035 a0000c0042t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0026 a0001c0003t0042 a0001c0003t0050 a0001c0005t0011 a0002c0002t0007 a0002c0004t0001 a0002c0004t0003 a0002c0004t0008 a0002c0004t0054 a0002c0050t0001 a0003c0001t0001 a0003c0001t0003 a0003c0044t0003 a0003c0046t0003 a0005c0031t0029 a0005c0051t0021 a0005c0054t0003 a0006c0008t0007 a0006c0008t0025 a0033c0041t0001	a0000c0009t0001g0224 a0000c0009t0001g0231 a0000c0009t0003g0229 others(54): Show a0000c0009t0001g0224 a0000c0009t0001g0231 a0000c0009t0003g0229 a0000c0015t0035g0023 a0000c0042t0001g0219 a0001c0003t0003g0012 a0001c0003t0003g0013 a0001c0003t0003g0015 a0001c0003t0004g0056 a0001c0003t0004g0270 a0001c0003t0007g0008 a0001c0003t0026g0062 a0001c0003t0042g0043 a0001c0003t0050g0131 a0001c0005t0011g0144 a0002c0002t0007g0294 a0002c0004t0001g0036 a0002c0004t0001g0092 a0002c0004t0001g0106 a0002c0004t0001g0119 a0002c0004t0001g0120 a0002c0004t0001g0121 a0002c0004t0001g0130 a0002c0004t0001g0137 a0002c0004t0001g0263 a0002c0004t0003g0104 a0002c0004t0003g0122 a0002c0004t0003g0273 a0002c0004t0008g0071 a0002c0004t0054g0281 a0002c0050t0001g0090 a0003c0001t0001g0002 a0003c0001t0001g0160 a0003c0001t0001g0173 a0003c0001t0001g0174 a0003c0001t0001g0201 a0003c0001t0001g0203 a0003c0001t0001g0210 a0003c0001t0001g0211 a0003c0001t0001g0212 a0003c0001t0001g0215 a0003c0001t0001g0216 a0003c0001t0001g0218 a0003c0001t0001g0220 a0003c0001t0001g0230 a0003c0001t0001g0232 a0003c0001t0003g0154 a0003c0001t0003g0187 a0003c0001t0003g0188 a0003c0044t0003g0214 a0003c0046t0003g0221 a0005c0031t0029g0061 a0005c0051t0021g0038 a0005c0054t0003g0068 a0006c0008t0007g0236 a0006c0008t0025g0251 a0033c0041t0001g0217	58	348	0.1667	24	c.183 others(43): Show c.1834+1413_1834+1436dupCACACACACACACACACACACACA		FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132578343	T T	TCTCACAC others(17): Show TCTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0000 a0000	a0000c0009 a0000c0009	a0000c0009t0001 a0000c0009t0001	a0000c0009t0001g0161 a0000c0009t0001g0161	1	348	0.0029	24	c.183 others(43): Show c.1834+1413_1834+1414insTCACACACACACACACACACACAC		FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXL12_chr19_9805270_9824079	9820556	G G	GTATGTAT others(17): Show GTATGTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0047 a0001c0002t0001g0048	2	338	0.0059	24	c.-17 others(35): Show c.-1744_-1743insTATATATATATATATATATACATA		FBXL12	ENSG00000127452.9	transcript	ENST00000247977.9	protein_coding					1478		chr19	TogoVar
FBXL13_chr7_102806189_103079796	102834032	T T	TGAAGGAA others(17): Show TGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01515.hp1 HG01943.hp2 others(2): Show HG01109.hp1 HG01515.hp1 HG01943.hp2 HG01981.hp1 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0244 a0001c0002t0001g0247 a0001c0002t0001g0286 others(2): Show a0001c0002t0001g0244 a0001c0002t0001g0247 a0001c0002t0001g0286 a0001c0002t0001g0290 a0001c0002t0001g0298	5	328	0.0152	24	c.199 others(43): Show c.1990-1082_1990-1059dupCTTCCTTCCTTCCTTCCTTCCTTC		FBXL13	ENSG00000161040.19	transcript	ENST00000440067.4	protein_coding	18/20						chr7	TogoVar
FBXL13_chr7_102806189_103079796	102951375	C C	CTAAATAA others(17): Show CTAAATAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	328	0.0031	24	c.994 others(43): Show c.994+12134_994+12157dupTTTATTTATTTATTTATTTATTTA		FBXL13	ENSG00000161040.19	transcript	ENST00000440067.4	protein_coding	9/20						chr7	TogoVar
FBXL14_chr12_1560993_1599581	1593826	T T	TGCGGCGG others(17): Show TGCGGCGGAGGCTCAGGATCTGCAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0348 a0002c0008t0002g0348	1	418	0.0024	24	c.217 others(31): Show c.217_240dupGTGCAGATCCTGAGCCTCCGCCGC	p.Arg others(35): Show p.Arg80_Ser81insValGlnIleLeuSerLeuArgArg	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/2	755/2527	240/1257	80/418			chr12	TogoVar
FBXL14_chr12_1560993_1599581	1594156	A A	AGCCGCCG others(17): Show AGCCGCCGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0024 a0001c0001t0023g0024	1	418	0.0024	24	c.-11 others(32): Show c.-114_-91dupGGCGGCGGCGGCGGCGGCGGCGGC		FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/2				91		chr12	TogoVar
FBXL17_chr5_107854035_108387098	107871057	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0079 a0005c0007t0001g0079	1	244	0.0041	24	c.196 others(43): Show c.1966-9198_1966-9197insTTTTTTTTTTTTTTTTTTTTTTTT		FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	8/8						chr5	TogoVar

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