Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FAT3_chr11_92219818_92901473	92330995	TGTGTGTG others(7): Show TGTGTGTGTGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03516.hp1 HG03098.hp2 HG03516.hp1	a0001 a0031 a0001 a0031	a0001c0050 a0031c0054 a0001c0050 a0031c0054	a0001c0050t0085 a0031c0054t0025 a0001c0050t0085 a0031c0054t0025	a0001c0050t0085g0022 a0031c0054t0025g0040 a0001c0050t0085g0022 a0031c0054t0025g0040	2	118	0.0170	-14	c.-17 others(33): Show c.-17-21099_-17-21086delTGTGTGTGAGAGAG	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92330999	TGTGTGAG others(7): Show TGTGTGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0027 a0027	a0027c0047 a0027c0047	a0027c0047t0011 a0027c0047t0011	a0027c0047t0011g0063 a0027c0047t0011g0063	1	118	0.0085	-14	c.-17 others(33): Show c.-17-21095_-17-21082delTGTGAGAGAGAGAG	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92331003	TGAGAGAG others(7): Show TGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02559.hp1 HG01169.hp1 HG02559.hp1	a0010 a0016 a0010 a0016	a0010c0072 a0016c0081 a0010c0072 a0016c0081	a0010c0072t0001 a0016c0081t0039 a0010c0072t0001 a0016c0081t0039	a0010c0072t0001g0077 a0016c0081t0039g0042 a0010c0072t0001g0077 a0016c0081t0039g0042	2	118	0.0170	-14	c.-17 others(33): Show c.-17-21088_-17-21075delGAGAGAGAGAGAGA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92373760	GCACACAC others(7): Show GCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG03041.hp2 others(1): Show HG02055.hp1 HG02622.hp1 HG03041.hp2 HG06807.hp2	a0001 a0002 a0023 others(1): Show a0001 a0002 a0023 a0028	a0001c0035 a0002c0013 a0023c0037 others(1): Show a0001c0035 a0002c0013 a0023c0037 a0028c0033	a0001c0035t0033 a0002c0013t0051 a0023c0037t0056 others(1): Show a0001c0035t0033 a0002c0013t0051 a0023c0037t0056 a0028c0033t0045	a0001c0035t0033g0068 a0002c0013t0051g0083 a0023c0037t0056g0100 others(1): Show a0001c0035t0033g0068 a0002c0013t0051g0083 a0023c0037t0056g0100 a0028c0033t0045g0049	4	118	0.0339	-14	c.329 others(35): Show c.3292+18393_3292+18406delCACACACACACACA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92412738	TATATATA others(7): Show TATATATAAATATAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02622.hp1 others(3): Show HG02055.hp1 HG02109.hp1 HG02622.hp1 HG02922.hp2 HG06807.hp2 NA18906.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0017 a0023	a0001c0035 a0002c0013 a0003c0020 others(3): Show a0001c0035 a0002c0013 a0003c0020 a0006c0078 a0017c0080 a0023c0037	a0001c0035t0033 a0002c0013t0051 a0003c0020t0086 others(3): Show a0001c0035t0033 a0002c0013t0051 a0003c0020t0086 a0006c0078t0002 a0017c0080t0043 a0023c0037t0056	a0001c0035t0033g0068 a0002c0013t0051g0083 a0003c0020t0086g0017 others(3): Show a0001c0035t0033g0068 a0002c0013t0051g0083 a0003c0020t0086g0017 a0006c0078t0002g0065 a0017c0080t0043g0084 a0023c0037t0056g0100	6	118	0.0509	-14	c.329 others(35): Show c.3292+57338_3292+57351delTATAAATATACATA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92471915	CTATATAT others(7): Show CTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02683.hp2 HG04204.hp2 others(2): Show HG01099.hp2 HG02683.hp2 HG04204.hp2 NA18986.hp1 NA19065.hp2	a0002 a0008 a0009 others(1): Show a0002 a0008 a0009 a0011	a0002c0003 a0008c0021 a0009c0007 others(1): Show a0002c0003 a0008c0021 a0009c0007 a0011c0022	a0002c0003t0003 a0002c0003t0076 a0008c0021t0024 others(2): Show a0002c0003t0003 a0002c0003t0076 a0008c0021t0024 a0009c0007t0004 a0011c0022t0003	a0002c0003t0003g0037 a0002c0003t0076g0008 a0008c0021t0024g0101 others(2): Show a0002c0003t0003g0037 a0002c0003t0076g0008 a0008c0021t0024g0101 a0009c0007t0004g0071 a0011c0022t0003g0072	5	118	0.0424	-14	c.329 others(35): Show c.3293-52691_3293-52678delATATATATATATAT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92561250	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01069.hp1 HG01074.hp1 others(20): Show HG00673.hp2 HG01069.hp1 HG01074.hp1 HG01169.hp1 HG01169.hp2 HG01884.hp1 HG01978.hp1 HG02004.hp2 HG02080.hp2 HG02559.hp2 HG02683.hp2 HG02698.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp2 NA18940.hp1 NA18986.hp1 NA19009.hp1 NA19060.hp2 NA19065.hp1 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0010 a0025 a0032 a0033 a0043 a0044	a0001c0002 a0001c0005 a0001c0014 others(13): Show a0001c0002 a0001c0005 a0001c0014 a0001c0025 a0001c0036 a0002c0003 a0002c0029 a0002c0031 a0004c0009 a0004c0012 a0010c0072 a0025c0045 a0032c0027 a0033c0026 a0043c0063 a0044c0015	a0001c0002t0053 a0001c0002t0078 a0001c0002t0079 others(20): Show a0001c0002t0053 a0001c0002t0078 a0001c0002t0079 a0001c0002t0081 a0001c0005t0018 a0001c0005t0065 a0001c0014t0034 a0001c0025t0011 a0001c0036t0016 a0002c0003t0003 a0002c0003t0007 a0002c0003t0068 a0002c0003t0076 a0002c0029t0023 a0002c0031t0007 a0004c0009t0001 a0004c0012t0004 a0010c0072t0001 a0025c0045t0003 a0032c0027t0021 a0033c0026t0055 a0043c0063t0012 a0044c0015t0082	a0001c0002t0053g0090 a0001c0002t0078g0009 a0001c0002t0079g0003 others(20): Show a0001c0002t0053g0090 a0001c0002t0078g0009 a0001c0002t0079g0003 a0001c0002t0081g0002 a0001c0005t0018g0088 a0001c0005t0065g0004 a0001c0014t0034g0062 a0001c0025t0011g0076 a0001c0036t0016g0033 a0002c0003t0003g0037 a0002c0003t0007g0103 a0002c0003t0068g0010 a0002c0003t0076g0008 a0002c0029t0023g0051 a0002c0031t0007g0030 a0004c0009t0001g0070 a0004c0012t0004g0044 a0010c0072t0001g0077 a0025c0045t0003g0078 a0032c0027t0021g0075 a0033c0026t0055g0074 a0043c0063t0012g0093 a0044c0015t0082g0007	23	118	0.1949	-14	c.360 others(35): Show c.3607+36329_3607+36342delGTGTGTGTGTGTGT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92705317	GGTGATGG others(7): Show GGTGATGGTGGTGGT	G G	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0020 a0020	a0020c0016 a0020c0016	a0020c0016t0031 a0020c0016t0031	a0020c0016t0031g0036 a0020c0016t0031g0036	1	118	0.0085	-14	c.366 others(33): Show c.3669+7888_3669+7901delTGATGGTGGTGGTG	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92710593	GATTTTTT others(7): Show GATTTTTTATTTAGC	G G	intron_variant intron_variant	MODIFIER	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	-14	c.366 others(35): Show c.3669+13157_3669+13170delTTTAGCATTTTTTA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92719720	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0010 a0010	a0010c0072 a0010c0072	a0010c0072t0001 a0010c0072t0001	a0010c0072t0001g0077 a0010c0072t0001g0077	1	118	0.0085	-14	c.366 others(35): Show c.3669+22313_3669+22326delGTGTGTGTGTGTGT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92878654	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02965.hp1 HG06807.hp1 HG02258.hp2 HG02965.hp1 HG06807.hp1	a0001 a0003 a0045 a0001 a0003 a0045	a0001c0006 a0003c0030 a0045c0066 a0001c0006 a0003c0030 a0045c0066	a0001c0006t0029 a0003c0030t0005 a0045c0066t0027 a0001c0006t0029 a0003c0030t0005 a0045c0066t0027	a0001c0006t0029g0045 a0003c0030t0005g0095 a0045c0066t0027g0057 a0001c0006t0029g0045 a0003c0030t0005g0095 a0045c0066t0027g0057	3	118	0.0254	-14	c.121 others(35): Show c.12128-2076_12128-2063delAAAAAAAAAAAAAG	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	22/27			chr11	TogoVar
FAT4_chr4_125309955_125497932	125396926	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01167.hp2 others(31): Show HG00735.hp1 HG00738.hp2 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG02486.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG03041.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03942.hp1 HG04199.hp2 NA18522.hp2 NA20129.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0005 a0006 a0007 a0010 a0014 a0015 a0019 a0021 a0023 a0044 a0053 a0060 a0064	a0001c0009 a0001c0054 a0002c0023 others(21): Show a0001c0009 a0001c0054 a0002c0023 a0002c0041 a0002c0094 a0003c0003 a0003c0012 a0005c0004 a0006c0029 a0007c0060 a0007c0061 a0010c0020 a0010c0032 a0010c0111 a0014c0042 a0015c0046 a0015c0095 a0019c0036 a0021c0028 a0023c0064 a0044c0106 a0053c0055 a0060c0076 a0064c0113	a0001c0009t0001 a0001c0054t0015 a0002c0023t0002 others(21): Show a0001c0009t0001 a0001c0054t0015 a0002c0023t0002 a0002c0041t0002 a0002c0094t0002 a0003c0003t0002 a0003c0012t0003 a0005c0004t0002 a0006c0029t0001 a0007c0060t0001 a0007c0061t0001 a0010c0020t0001 a0010c0032t0001 a0010c0111t0001 a0014c0042t0002 a0015c0046t0002 a0015c0095t0002 a0019c0036t0001 a0021c0028t0008 a0023c0064t0008 a0044c0106t0006 a0053c0055t0001 a0060c0076t0001 a0064c0113t0001	a0001c0009t0001g0033 a0001c0009t0001g0053 a0001c0009t0001g0054 others(31): Show a0001c0009t0001g0033 a0001c0009t0001g0053 a0001c0009t0001g0054 a0001c0009t0001g0056 a0001c0009t0001g0058 a0001c0009t0001g0059 a0001c0054t0015g0057 a0002c0023t0002g0113 a0002c0023t0002g0114 a0002c0041t0002g0312 a0002c0041t0002g0313 a0002c0094t0002g0003 a0003c0003t0002g0280 a0003c0012t0003g0277 a0005c0004t0002g0097 a0006c0029t0001g0052 a0007c0060t0001g0032 a0007c0061t0001g0031 a0010c0020t0001g0025 a0010c0032t0001g0004 a0010c0032t0001g0006 a0010c0111t0001g0187 a0014c0042t0002g0120 a0015c0046t0002g0286 a0015c0046t0002g0288 a0015c0095t0002g0075 a0019c0036t0001g0070 a0019c0036t0001g0071 a0021c0028t0008g0007 a0023c0064t0008g0009 a0044c0106t0006g0062 a0053c0055t0001g0055 a0060c0076t0001g0005 a0064c0113t0001g0051	34	320	0.1063	-14	c.517 others(33): Show c.5176-1831_5176-1818delTATATATATATATA	FAT4	ENSG00000196159.14	transcript	ENST00000394329.9	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAT4_chr4_125309955_125497932	125396953	TATATATA others(7): Show TATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0002 a0012c0018t0002	a0012c0018t0002g0205 a0012c0018t0002g0205	1	320	0.0031	-14	c.517 others(33): Show c.5176-1829_5176-1816delTATATATATATAAA	FAT4	ENSG00000196159.14	transcript	ENST00000394329.9	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAT4_chr4_125309955_125497932	125440610	TGAGAGAG others(7): Show TGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03239.hp2 HG01257.hp1 HG03239.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0166 a0001c0016t0009g0167 a0001c0016t0009g0166 a0001c0016t0009g0167	2	320	0.0063	-14	c.720 others(33): Show c.7200-5662_7200-5649delGAGAGAGAGAGAGA	FAT4	ENSG00000196159.14	transcript	ENST00000394329.9	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAT4_chr4_125309955_125497932	125457122	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02630.hp2 HG02976.hp1 others(4): Show HG01192.hp2 HG02630.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp2 HG03225.hp1 HG06807.hp1	a0014 a0019 a0021 a0014 a0019 a0021	a0014c0042 a0014c0090 a0019c0036 others(1): Show a0014c0042 a0014c0090 a0019c0036 a0021c0028	a0014c0042t0002 a0014c0090t0002 a0019c0036t0001 others(1): Show a0014c0042t0002 a0014c0090t0002 a0019c0036t0001 a0021c0028t0008	a0014c0042t0002g0116 a0014c0042t0002g0120 a0014c0090t0002g0254 others(4): Show a0014c0042t0002g0116 a0014c0042t0002g0120 a0014c0090t0002g0254 a0019c0036t0001g0070 a0019c0036t0001g0071 a0021c0028t0008g0007 a0021c0028t0008g0008	7	320	0.0219	-14	c.118 others(35): Show c.11800+4333_11800+4346delACACACACACACAC	FAT4	ENSG00000196159.14	transcript	ENST00000394329.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAT4_chr4_125309955_125497932	125471895	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0062 a0062	a0062c0053 a0062c0053	a0062c0053t0001 a0062c0053t0001	a0062c0053t0001g0142 a0062c0053t0001g0142	1	320	0.0031	-14	c.122 others(35): Show c.12213+3095_12213+3108delAAAAAAAAAAAAAA	FAT4	ENSG00000196159.14	transcript	ENST00000394329.9	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
FATE1_chrX_151711035_151728194	151712470	TGCGACCC others(7): Show TGCGACCCTGAGCCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	342	0.0029	-14	c.-36 others(25): Show c.-3649_-3636delGCGACCCTGAGCCG	FATE1	ENSG00000147378.11	transcript	ENST00000370350.7	protein_coding		3564		chrX	TogoVar
FATE1_chrX_151711035_151728194	151714568	GCTGCTCC others(7): Show GCTGCTCCACTGGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	342	0.0029	-14	c.-15 others(25): Show c.-1551_-1538delCTGCTCCACTGGAT	FATE1	ENSG00000147378.11	transcript	ENST00000370350.7	protein_coding		1466		chrX	TogoVar
FAXC_chr6_99266168_99354674	99272146	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02258.hp1 others(6): Show HG01891.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02572.hp1 HG02886.hp1 HG02896.hp2 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0111 a0001c0001t0134 a0001c0001t0013 a0001c0001t0111 a0001c0001t0134	a0001c0001t0013g0213 a0001c0001t0013g0214 a0001c0001t0013g0215 others(6): Show a0001c0001t0013g0213 a0001c0001t0013g0214 a0001c0001t0013g0215 a0001c0001t0013g0216 a0001c0001t0013g0217 a0001c0001t0013g0218 a0001c0001t0013g0260 a0001c0001t0111g0261 a0001c0001t0134g0212	9	398	0.0226	-14	c.90 others(25): Show c.9004_*9017delCACACACACACACA	FAXC	ENSG00000146267.12	transcript	ENST00000389677.6	protein_coding	6/6	9004		chr6	TogoVar
FAXC_chr6_99266168_99354674	99293665	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00558.hp1 others(73): Show HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG01069.hp2 HG01074.hp1 HG01433.hp2 HG02015.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02523.hp2 HG03490.hp2 HG03492.hp2 HG04115.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18982.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18999.hp1 NA19001.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19055.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 others(29): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0046 a0001c0001t0048 a0001c0001t0049 a0001c0001t0059 a0001c0001t0084 a0001c0001t0085 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140	a0001c0001t0007g0220 a0001c0001t0007g0221 a0001c0001t0007g0224 others(71): Show a0001c0001t0007g0220 a0001c0001t0007g0221 a0001c0001t0007g0224 a0001c0001t0007g0225 a0001c0001t0007g0230 a0001c0001t0007g0234 a0001c0001t0007g0241 a0001c0001t0007g0244 a0001c0001t0007g0250 a0001c0001t0008g0126 a0001c0001t0008g0127 a0001c0001t0008g0128 a0001c0001t0008g0143 a0001c0001t0008g0147 a0001c0001t0008g0148 a0001c0001t0008g0149 a0001c0001t0008g0152 a0001c0001t0010g0006 a0001c0001t0010g0086 a0001c0001t0010g0114 a0001c0001t0010g0119 a0001c0001t0010g0140 a0001c0001t0010g0151 a0001c0001t0011g0005 a0001c0001t0011g0110 a0001c0001t0011g0113 a0001c0001t0011g0123 a0001c0001t0011g0137 a0001c0001t0011g0144 a0001c0001t0015g0235 a0001c0001t0015g0236 a0001c0001t0015g0245 a0001c0001t0015g0247 a0001c0001t0015g0248 a0001c0001t0020g0116 a0001c0001t0020g0121 a0001c0001t0020g0122 a0001c0001t0020g0125 a0001c0001t0020g0135 a0001c0001t0022g0229 a0001c0001t0022g0243 a0001c0001t0023g0227 a0001c0001t0023g0232 a0001c0001t0023g0237 a0001c0001t0023g0251 a0001c0001t0031g0104 a0001c0001t0031g0134 a0001c0001t0032g0176 a0001c0001t0033g0081 a0001c0001t0033g0173 a0001c0001t0033g0175 a0001c0001t0046g0106 a0001c0001t0046g0118 a0001c0001t0048g0080 a0001c0001t0048g0146 a0001c0001t0049g0174 a0001c0001t0059g0242 a0001c0001t0084g0130 a0001c0001t0085g0108 a0001c0001t0087g0150 a0001c0001t0088g0171 a0001c0001t0089g0139 a0001c0001t0090g0141 a0001c0001t0091g0115 a0001c0001t0092g0120 a0001c0001t0093g0085 a0001c0001t0094g0142 a0001c0001t0095g0124 a0001c0001t0096g0133 a0001c0001t0097g0136 a0001c0001t0098g0112 a0001c0001t0138g0380 a0001c0001t0139g0254 a0001c0001t0140g0265	76	398	0.1910	-14	c.824 others(31): Show c.824-1859_824-1846delACACACACACACAC	FAXC	ENSG00000146267.12	transcript	ENST00000389677.6	protein_coding	4/5			chr6	TogoVar
FAXC_chr6_99266168_99354674	99293700	GTGTGTGT others(7): Show GTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01109.hp1 HG01243.hp2 others(26): Show HG00099.hp1 HG01109.hp1 HG01243.hp2 HG01433.hp1 HG02109.hp1 HG02135.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02615.hp1 HG02630.hp1 HG02698.hp2 HG02895.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03239.hp2 HG03710.hp2 HG03831.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18974.hp1 NA18981.hp2 NA19005.hp2 NA19090.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0015 a0001c0001t0022 others(20): Show a0001c0001t0007 a0001c0001t0015 a0001c0001t0022 a0001c0001t0023 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0001t0039 a0001c0001t0047 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0067 a0001c0001t0068 a0001c0001t0081 a0001c0001t0082 a0001c0001t0099 a0001c0001t0127 a0001c0001t0128 a0001c0001t0141 a0001c0001t0145 a0001c0001t0146 a0001c0001t0149	a0001c0001t0007g0291 a0001c0001t0015g0295 a0001c0001t0022g0284 others(25): Show a0001c0001t0007g0291 a0001c0001t0015g0295 a0001c0001t0022g0284 a0001c0001t0022g0285 a0001c0001t0022g0371 a0001c0001t0023g0292 a0001c0001t0031g0117 a0001c0001t0032g0078 a0001c0001t0032g0105 a0001c0001t0035g0281 a0001c0001t0035g0296 a0001c0001t0035g0299 a0001c0001t0039g0041 a0001c0001t0047g0003 a0001c0001t0058g0219 a0001c0001t0059g0290 a0001c0001t0060g0289 a0001c0001t0067g0047 a0001c0001t0068g0042 a0001c0001t0081g0169 a0001c0001t0082g0084 a0001c0001t0099g0107 a0001c0001t0127g0298 a0001c0001t0128g0297 a0001c0001t0141g0288 a0001c0001t0145g0293 a0001c0001t0146g0223 a0001c0001t0149g0381	29	398	0.0729	-14	c.824 others(31): Show c.824-1894_824-1881delGACACACACACACA	FAXC	ENSG00000146267.12	transcript	ENST00000389677.6	protein_coding	4/5			chr6	TogoVar
FBLL1_chr5_168524305_168535634	168524964	ATATATAT others(7): Show ATATATATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18979.hp1 NA19060.hp2 others(4): Show NA18522.hp2 NA18979.hp1 NA19060.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	7	460	0.0152	-14	c.-45 others(25): Show c.-4540_-4527delTATATATATATATT	FBLL1	ENSG00000188573.8	transcript	ENST00000338333.5	protein_coding		4340		chr5	TogoVar
FBLL1_chr5_168524305_168535634	168524966	ATATATAT others(7): Show ATATATATATATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG01123.hp2 HG02602.hp1 others(4): Show HG00408.hp1 HG01123.hp2 HG02602.hp1 HG02647.hp2 HG03195.hp2 NA18522.hp1 NA18965.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0001c0001t0003 a0004c0004t0002 a0001c0001t0002 a0001c0001t0003 a0004c0004t0002	a0001c0001t0002g0000 a0001c0001t0003g0000 a0004c0004t0002g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0004c0004t0002g0000	7	460	0.0152	-14	c.-45 others(25): Show c.-4538_-4525delTATATATATATTTT	FBLL1	ENSG00000188573.8	transcript	ENST00000338333.5	protein_coding		4338		chr5	TogoVar
FBLL1_chr5_168524305_168535634	168524968	ATATATAT others(7): Show ATATATATATTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01167.hp2 HG01358.hp2 others(2): Show HG00280.hp1 HG01167.hp2 HG01358.hp2 HG01361.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	5	460	0.0109	-14	c.-45 others(25): Show c.-4536_-4523delTATATATATTTTTT	FBLL1	ENSG00000188573.8	transcript	ENST00000338333.5	protein_coding		4336		chr5	TogoVar
FBLL1_chr5_168524305_168535634	168524970	ATATATAT others(7): Show ATATATATTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	460	0.0022	-14	c.-45 others(25): Show c.-4534_-4521delTATATATTTTTTTT	FBLL1	ENSG00000188573.8	transcript	ENST00000338333.5	protein_coding		4334		chr5	TogoVar
FBLN5_chr14_91864411_91952694	91917575	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0220 a0001c0002t0001g0220	1	360	0.0028	-14	c.379 others(33): Show c.379+19358_379+19371delTTTTTTTTTTTTTT	FBLN5	ENSG00000140092.16	transcript	ENST00000342058.9	protein_coding	4/10			chr14	TogoVar
FBLN5_chr14_91864411_91952694	91919367	AAAAGAAA others(7): Show AAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18522.hp1 HG03130.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0104 a0001c0001t0001g0075 a0001c0001t0001g0104	2	360	0.0056	-14	c.379 others(33): Show c.379+17566_379+17579delCTTTTCTTTTCTTT	FBLN5	ENSG00000140092.16	transcript	ENST00000342058.9	protein_coding	4/10			chr14	TogoVar
FBN1_chr15_48403313_48650709	48445141	CACACATA others(7): Show CACACATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	288	0.0035	-14	c.591 others(31): Show c.5917+221_5917+234delATATATATATGTGT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	48/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48461558	CATACATA others(7): Show CATACATAGATATAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02622.hp2 HG02723.hp2 others(5): Show HG01255.hp1 HG02622.hp2 HG02723.hp2 HG02976.hp2 HG03516.hp1 HG03579.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0002t0007 a0001c0005t0007 a0001c0001t0002 a0001c0002t0007 a0001c0005t0007	a0001c0001t0002g0214 a0001c0002t0007g0021 a0001c0002t0007g0127 others(5): Show a0001c0001t0002g0214 a0001c0002t0007g0021 a0001c0002t0007g0127 a0001c0005t0007g0197 a0001c0005t0007g0200 a0001c0005t0007g0205 a0001c0005t0007g0206 a0001c0005t0007g0207	8	288	0.0278	-14	c.522 others(33): Show c.5225-1255_5225-1242delATATATCTATGTAT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	42/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48466714	TGTTTTGC others(7): Show TGTTTTGCTACTGTC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	288	0.0035	-14	c.474 others(31): Show c.4748-870_4748-857delGACAGTAGCAAAAC	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	38/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48547721	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00544.hp1 others(47): Show HG00099.hp1 HG00408.hp2 HG00544.hp1 HG00741.hp2 HG01106.hp1 HG01175.hp2 HG01192.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG01978.hp1 HG02056.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02486.hp2 HG02523.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG03017.hp1 HG03098.hp2 HG03654.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp1 NA18943.hp1 NA18946.hp2 NA18954.hp2 NA18960.hp2 NA18975.hp1 NA18982.hp2 NA18992.hp1 NA18993.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19060.hp1 NA19074.hp1 NA19077.hp2 NA19080.hp2 NA19088.hp1 NA20805.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0002c0009 a0008c0013	a0001c0001t0005 a0001c0002t0003 a0001c0002t0004 others(9): Show a0001c0001t0005 a0001c0002t0003 a0001c0002t0004 a0001c0002t0023 a0001c0004t0004 a0001c0004t0016 a0001c0004t0022 a0001c0005t0001 a0001c0006t0014 a0001c0010t0003 a0002c0009t0001 a0008c0013t0003	a0001c0001t0005g0221 a0001c0002t0003g0025 a0001c0002t0003g0026 others(47): Show a0001c0001t0005g0221 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0041 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0082 a0001c0002t0004g0043 a0001c0002t0023g0034 a0001c0004t0004g0048 a0001c0004t0004g0052 a0001c0004t0004g0053 a0001c0004t0004g0054 a0001c0004t0004g0055 a0001c0004t0004g0056 a0001c0004t0004g0057 a0001c0004t0004g0059 a0001c0004t0004g0060 a0001c0004t0004g0061 a0001c0004t0004g0062 a0001c0004t0004g0063 a0001c0004t0004g0064 a0001c0004t0004g0065 a0001c0004t0004g0066 a0001c0004t0004g0068 a0001c0004t0004g0069 a0001c0004t0004g0083 a0001c0004t0004g0105 a0001c0004t0004g0137 a0001c0004t0004g0140 a0001c0004t0004g0287 a0001c0004t0016g0050 a0001c0004t0022g0139 a0001c0005t0001g0198 a0001c0006t0014g0004 a0001c0010t0003g0192 a0002c0009t0001g0211 a0002c0009t0001g0212 a0008c0013t0003g0028	50	288	0.1736	-14	c.539 others(31): Show c.539-9927_539-9914delTGTGTGTGTGTGTG	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48575802	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19240.hp2 HG01884.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0010 a0001c0004t0010 a0001c0001t0010 a0001c0004t0010	a0001c0001t0010g0018 a0001c0004t0010g0012 a0001c0001t0010g0018 a0001c0004t0010g0012	2	288	0.0069	-14	c.538 others(33): Show c.538+20467_538+20480delGTGTGTGTGTGTGT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48634857	CCACACAC others(7): Show CCACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA20300.hp2 HG03225.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0010 a0001c0025t0008 a0001c0001t0010 a0001c0025t0008	a0001c0001t0010g0225 a0001c0025t0008g0203 a0001c0001t0010g0225 a0001c0025t0008g0203	2	288	0.0069	-14	c.164 others(31): Show c.164+9735_164+9748delTGTGTGTGTGTGTG	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	2/65			chr15	TogoVar
FBN2_chr5_128252909_128543245	128310394	ATATATAT others(7): Show ATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18956.hp2 NA18977.hp2 others(1): Show HG02647.hp1 NA18956.hp2 NA18977.hp2 NA19077.hp1	a0002 a0004 a0002 a0004	a0002c0041 a0004c0005 a0002c0041 a0004c0005	a0002c0041t0011 a0004c0005t0001 a0002c0041t0011 a0004c0005t0001	a0002c0041t0011g0029 a0004c0005t0001g0197 a0004c0005t0001g0198 others(1): Show a0002c0041t0011g0029 a0004c0005t0001g0197 a0004c0005t0001g0198 a0004c0005t0001g0199	4	236	0.0170	-14	c.507 others(31): Show c.5075-300_5075-287delAAAAAATATATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	39/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128310396	ATATATAT others(7): Show ATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02615.hp1 HG03209.hp2 others(3): Show HG01952.hp1 HG02615.hp1 HG03209.hp2 HG03834.hp2 NA18962.hp1 NA19065.hp2	a0001 a0002 a0027 a0001 a0002 a0027	a0001c0001 a0001c0003 a0002c0040 others(1): Show a0001c0001 a0001c0003 a0002c0040 a0027c0027	a0001c0001t0003 a0001c0003t0001 a0002c0040t0002 others(1): Show a0001c0001t0003 a0001c0003t0001 a0002c0040t0002 a0027c0027t0008	a0001c0001t0003g0013 a0001c0003t0001g0176 a0001c0003t0001g0190 others(3): Show a0001c0001t0003g0013 a0001c0003t0001g0176 a0001c0003t0001g0190 a0001c0003t0001g0230 a0002c0040t0002g0041 a0027c0027t0008g0020	6	236	0.0254	-14	c.507 others(31): Show c.5075-302_5075-289delAAAAAAAATATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	39/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128310398	ATATATTT others(7): Show ATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA19074.hp1 NA19085.hp2 HG00735.hp1 NA19074.hp1 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0174 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0174 a0001c0003t0001g0178 a0001c0003t0001g0179	3	236	0.0127	-14	c.507 others(31): Show c.5075-304_5075-291delAAAAAAAAAATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	39/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128310400	ATATTTTT others(7): Show ATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02717.hp1 HG02523.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0032 a0001c0003t0001 a0001c0003t0032	a0001c0003t0001g0177 a0001c0003t0032g0141 a0001c0003t0001g0177 a0001c0003t0032g0141	2	236	0.0085	-14	c.507 others(31): Show c.5075-306_5075-293delAAAAAAAAAAAATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	39/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128455990	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0054 a0001c0054	a0001c0054t0001 a0001c0054t0001	a0001c0054t0001g0194 a0001c0054t0001g0194	1	236	0.0042	-14	c.826 others(31): Show c.826+8720_826+8733delTTTTTTTTTTTTTT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	6/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128479968	CTCTCTCT others(7): Show CTCTCTCTCTATATA	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0002 a0003c0016t0002	a0003c0016t0002g0043 a0003c0016t0002g0043	1	236	0.0042	-14	c.629 others(33): Show c.629-15061_629-15048delTATATAGAGAGAGA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	5/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128479970	CTCTCTCT others(7): Show CTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03209.hp1 HG02647.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0041 a0001c0008 a0002c0041	a0001c0008t0025 a0002c0041t0011 a0001c0008t0025 a0002c0041t0011	a0001c0008t0025g0115 a0002c0041t0011g0029 a0001c0008t0025g0115 a0002c0041t0011g0029	2	236	0.0085	-14	c.629 others(33): Show c.629-15063_629-15050delTATATATAGAGAGA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	5/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128479972	CTCTCTAT others(7): Show CTCTCTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0006 a0001c0045t0006	a0001c0045t0006g0026 a0001c0045t0006g0026	1	236	0.0042	-14	c.629 others(33): Show c.629-15065_629-15052delTATATATATAGAGA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	5/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128479974	CTCTATAT others(7): Show CTCTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03516.hp1 NA18951.hp2 HG01496.hp2 HG03516.hp1 NA18951.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0008 a0003c0006 a0004c0005 a0001c0008 a0003c0006 a0004c0005	a0001c0008t0006 a0003c0006t0004 a0004c0005t0001 a0001c0008t0006 a0003c0006t0004 a0004c0005t0001	a0001c0008t0006g0023 a0003c0006t0004g0047 a0004c0005t0001g0191 a0001c0008t0006g0023 a0003c0006t0004g0047 a0004c0005t0001g0191	3	236	0.0127	-14	c.629 others(33): Show c.629-15067_629-15054delTATATATATATAGA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	5/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128479976	CTATATAT others(7): Show CTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG02145.hp1 others(5): Show HG00099.hp2 HG00609.hp1 HG02145.hp1 HG02280.hp2 NA18949.hp1 NA19056.hp2 NA19063.hp1 NA19077.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0002 a0002c0023 others(1): Show a0001c0003 a0002c0002 a0002c0023 a0004c0005	a0001c0003t0001 a0002c0002t0001 a0002c0023t0038 others(2): Show a0001c0003t0001 a0002c0002t0001 a0002c0023t0038 a0004c0005t0001 a0004c0005t0002	a0001c0003t0001g0201 a0002c0002t0001g0183 a0002c0023t0038g0235 others(5): Show a0001c0003t0001g0201 a0002c0002t0001g0183 a0002c0023t0038g0235 a0004c0005t0001g0192 a0004c0005t0001g0198 a0004c0005t0001g0205 a0004c0005t0001g0232 a0004c0005t0002g0069	8	236	0.0339	-14	c.629 others(33): Show c.629-15069_629-15056delTATATATATATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	5/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128480010	ATATATAT others(7): Show ATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02630.hp1 HG03834.hp1 others(4): Show HG01258.hp1 HG02630.hp1 HG03834.hp1 HG04115.hp1 NA18940.hp2 NA18984.hp2 NA19003.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0011	a0001c0003 a0001c0008 a0003c0004 others(4): Show a0001c0003 a0001c0008 a0003c0004 a0003c0006 a0005c0017 a0005c0019 a0011c0018	a0001c0003t0017 a0001c0008t0028 a0003c0004t0002 others(4): Show a0001c0003t0017 a0001c0008t0028 a0003c0004t0002 a0003c0006t0004 a0005c0017t0003 a0005c0019t0003 a0011c0018t0003	a0001c0003t0017g0004 a0001c0008t0028g0113 a0003c0004t0002g0090 others(4): Show a0001c0003t0017g0004 a0001c0008t0028g0113 a0003c0004t0002g0090 a0003c0006t0004g0044 a0005c0017t0003g0008 a0005c0019t0003g0009 a0011c0018t0003g0007	7	236	0.0297	-14	c.629 others(33): Show c.629-15103_629-15090delCATATATATATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	5/64			chr5	TogoVar
FBN3_chr19_8060402_8154592	8072966	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01884.hp2 HG02145.hp1 others(17): Show HG01261.hp1 HG01884.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp2 HG02559.hp1 HG02615.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp2 NA18522.hp1 NA18906.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0012 a0023 a0024 others(12): Show a0012 a0023 a0024 a0030 a0041 a0042 a0052 a0057 a0060 a0067 a0073 a0092 a0106 a0114 a0151	a0012c0121 a0023c0022 a0024c0162 others(14): Show a0012c0121 a0023c0022 a0024c0162 a0030c0211 a0030c0212 a0041c0110 a0041c0111 a0042c0041 a0052c0057 a0057c0059 a0060c0142 a0067c0164 a0073c0173 a0092c0139 a0106c0127 a0114c0135 a0151c0118	a0012c0121t0001 a0023c0022t0001 a0024c0162t0001 others(14): Show a0012c0121t0001 a0023c0022t0001 a0024c0162t0001 a0030c0211t0001 a0030c0212t0001 a0041c0110t0001 a0041c0111t0001 a0042c0041t0001 a0052c0057t0001 a0057c0059t0001 a0060c0142t0001 a0067c0164t0001 a0073c0173t0001 a0092c0139t0001 a0106c0127t0001 a0114c0135t0001 a0151c0118t0001	a0012c0121t0001g0011 a0023c0022t0001g0019 a0023c0022t0001g0020 others(17): Show a0012c0121t0001g0011 a0023c0022t0001g0019 a0023c0022t0001g0020 a0023c0022t0001g0360 a0024c0162t0001g0366 a0030c0211t0001g0220 a0030c0212t0001g0218 a0041c0110t0001g0335 a0041c0111t0001g0332 a0042c0041t0001g0038 a0042c0041t0001g0040 a0052c0057t0001g0247 a0057c0059t0001g0032 a0060c0142t0001g0352 a0067c0164t0001g0354 a0073c0173t0001g0374 a0092c0139t0001g0358 a0106c0127t0001g0339 a0114c0135t0001g0095 a0151c0118t0001g0368	20	380	0.0526	-14	c.793 others(29): Show c.7937+83_7937+96delACACACACACACAC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	62/63			chr19	TogoVar
FBN3_chr19_8060402_8154592	8127002	CTGAGCTG others(7): Show CTGAGCTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00642.hp1 others(1): Show HG00099.hp1 HG00280.hp1 HG00642.hp1 HG03669.hp1	a0005 a0017 a0029 others(1): Show a0005 a0017 a0029 a0129	a0005c0004 a0017c0023 a0029c0202 others(1): Show a0005c0004 a0017c0023 a0029c0202 a0129c0204	a0005c0004t0001 a0017c0023t0002 a0029c0202t0001 others(1): Show a0005c0004t0001 a0017c0023t0002 a0029c0202t0001 a0129c0204t0001	a0005c0004t0001g0153 a0017c0023t0002g0086 a0029c0202t0001g0195 others(1): Show a0005c0004t0001g0153 a0017c0023t0002g0086 a0029c0202t0001g0195 a0129c0204t0001g0208	4	380	0.0105	-14	c.229 others(31): Show c.2297-184_2297-171delACACACACAGCTCA	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	18/63			chr19	TogoVar
FBN3_chr19_8060402_8154592	8140414	AGATCGTG others(7): Show AGATCGTGCCATTGC	A A	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0307 a0002c0001t0001g0307	1	380	0.0026	-14	c.865 others(31): Show c.865+1289_865+1302delGCAATGGCACGATC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	8/63			chr19	TogoVar
FBP1_chr9_94598133_94644518	94618455	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03209.hp2 HG02572.hp2 HG03209.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0006c0010t0002 a0001c0001t0001 a0006c0010t0002	a0001c0001t0001g0031 a0006c0010t0002g0059 a0001c0001t0001g0031 a0006c0010t0002g0059	2	358	0.0056	-14	c.334 others(29): Show c.334-609_334-596delTTTTTTTTTTTTTT	FBP1	ENSG00000165140.12	transcript	ENST00000375326.9	protein_coding	2/6			chr9	TogoVar
FBP1_chr9_94598133_94644518	94619874	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(105): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01358.hp2 HG01433.hp2 HG01516.hp1 HG01952.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02523.hp1 HG02523.hp2 HG02698.hp2 HG02738.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18943.hp1 NA18944.hp2 NA18951.hp1 NA18952.hp1 NA18955.hp2 NA18957.hp2 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18986.hp2 NA18990.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19090.hp2 NA19240.hp2 NA20752.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0008	a0001c0001 a0001c0002 a0001c0013 others(6): Show a0001c0001 a0001c0002 a0001c0013 a0001c0014 a0001c0017 a0003c0006 a0004c0008 a0005c0012 a0008c0009	a0001c0001t0002 a0001c0002t0001 a0001c0002t0005 others(7): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0005 a0001c0013t0001 a0001c0014t0001 a0001c0017t0001 a0003c0006t0001 a0004c0008t0001 a0005c0012t0001 a0008c0009t0002	a0001c0001t0002g0009 a0001c0001t0002g0092 a0001c0001t0002g0093 others(88): Show a0001c0001t0002g0009 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0140 a0001c0001t0002g0190 a0001c0001t0002g0211 a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0083 a0001c0002t0001g0134 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0210 a0001c0002t0001g0212 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0005g0260 a0001c0002t0005g0275 a0001c0002t0005g0282 a0001c0013t0001g0176 a0001c0014t0001g0213 a0001c0017t0001g0251 a0003c0006t0001g0214 a0004c0008t0001g0226 a0005c0012t0001g0195 a0008c0009t0002g0172	108	358	0.3017	-14	c.333 others(29): Show c.333+441_333+454delTTTTTTTTTTTTTT	FBP1	ENSG00000165140.12	transcript	ENST00000375326.9	protein_coding	2/6			chr9	TogoVar
FBP1_chr9_94598133_94644518	94638095	AAAAAAAA others(7): Show AAAAAAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0171	1	358	0.0028	-14	c.170 others(31): Show c.170+1032_170+1045delCTTTTCTTTTTTTT	FBP1	ENSG00000165140.12	transcript	ENST00000375326.9	protein_coding	1/6			chr9	TogoVar

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