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
FARS2_chr6_5256513_5776583	5717908	CTATATAT others(11): Show CTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp2 HG02109.hp2 others(13): Show HG01081.hp1 HG01243.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02486.hp1 HG02572.hp1 HG02622.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG03098.hp2 HG03486.hp2 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0001 a0001c0003t0002 a0001c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0092 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0002g0096 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0118 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0158 a0001c0001t0002g0170 a0001c0001t0006g0163 a0001c0003t0001g0005 a0001c0003t0002g0166 a0001c0005t0001g0002	16	170	0.0941	-18	c.121 others(39): Show c.1218-53372_1218-53355delTATATATATATATATATA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARSB_chr2_222561899_222661092	222632023	GATGGTGC others(11): Show GATGGTGCAATGGCACGAC	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02109.hp1 HG02145.hp1 others(15): Show HG01928.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp2 HG03225.hp1 HG03471.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0006 a0002c0002t0009 a0002c0002t0024 others(1): Show a0002c0002t0006 a0002c0002t0009 a0002c0002t0024 a0005c0006t0035	a0002c0002t0006g0010 a0002c0002t0006g0170 a0002c0002t0006g0173 others(13): Show a0002c0002t0006g0010 a0002c0002t0006g0170 a0002c0002t0006g0173 a0002c0002t0006g0174 a0002c0002t0006g0175 a0002c0002t0006g0177 a0002c0002t0006g0179 a0002c0002t0006g0181 a0002c0002t0006g0297 a0002c0002t0006g0298 a0002c0002t0009g0011 a0002c0002t0009g0171 a0002c0002t0009g0176 a0002c0002t0009g0178 a0002c0002t0024g0180 a0005c0006t0035g0299	18	344	0.0523	-18	c.716 others(33): Show c.716-367_716-350delGTCGTGCCATTGCACCAT	FARSB	ENSG00000116120.11	transcript	ENST00000281828.8	protein_coding	7/16			chr2	TogoVar
FASTKD2_chr2_206760606_206801189	206798659	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0155 a0001c0001t0050g0155	1	394	0.0025	-18	c.68 others(29): Show c.6858_*6875delGTGTGTGTGTGTGTGTGT	FASTKD2	ENSG00000118246.14	transcript	ENST00000402774.8	protein_coding		2471		chr2	TogoVar
FASTK_chr7_151071624_151085809	151084842	TACACACA others(11): Show TACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG02572.hp2 HG02647.hp2 others(1): Show HG01952.hp1 HG02572.hp2 HG02647.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	420	0.0095	-18	c.-40 others(29): Show c.-4094_-4077delGTGTGTGTGTGTGTGTGT	FASTK	ENSG00000164896.21	transcript	ENST00000297532.11	protein_coding		4034		chr7	TogoVar
FAT1_chr4_186582794_186728856	186645366	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03579.hp1 NA18946.hp1 HG03490.hp2 HG03579.hp1 NA18946.hp1	a0017 a0036 a0054 a0017 a0036 a0054	a0017c0037 a0036c0034 a0054c0059 a0017c0037 a0036c0034 a0054c0059	a0017c0037t0032 a0036c0034t0060 a0054c0059t0008 a0017c0037t0032 a0036c0034t0060 a0054c0059t0008	a0017c0037t0032g0279 a0036c0034t0060g0337 a0054c0059t0008g0039 a0017c0037t0032g0279 a0036c0034t0060g0337 a0054c0059t0008g0039	3	338	0.0089	-18	c.358 others(37): Show c.3581-5601_3581-5584delATATATATATATATATAT	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	3/26			chr4	TogoVar
FAT2_chr5_151499092_151596331	151533393	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00741.hp1 HG01433.hp2 others(30): Show HG00673.hp1 HG00741.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG02080.hp2 HG02280.hp1 HG02486.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02976.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18951.hp1 NA18952.hp2 NA18957.hp1 NA18997.hp1 NA19030.hp2 NA19054.hp2 NA19088.hp1 NA19089.hp1 NA20129.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0010 a0013 a0016 a0018 a0023 a0024 a0030 a0070 a0074 a0081	a0001c0010 a0001c0047 a0001c0125 others(18): Show a0001c0010 a0001c0047 a0001c0125 a0002c0001 a0003c0140 a0004c0019 a0005c0014 a0005c0015 a0008c0025 a0009c0007 a0010c0011 a0010c0082 a0013c0035 a0016c0042 a0018c0031 a0023c0079 a0024c0034 a0030c0146 a0070c0157 a0074c0168 a0081c0103	a0001c0010t0005 a0001c0010t0009 a0001c0047t0005 others(20): Show a0001c0010t0005 a0001c0010t0009 a0001c0047t0005 a0001c0125t0010 a0002c0001t0002 a0003c0140t0001 a0004c0019t0001 a0004c0019t0007 a0005c0014t0001 a0005c0015t0001 a0008c0025t0002 a0009c0007t0001 a0010c0011t0001 a0010c0082t0001 a0013c0035t0010 a0016c0042t0006 a0018c0031t0008 a0023c0079t0002 a0024c0034t0001 a0030c0146t0018 a0070c0157t0001 a0074c0168t0009 a0081c0103t0001	a0001c0010t0005g0058 a0001c0010t0009g0171 a0001c0047t0005g0290 others(30): Show a0001c0010t0005g0058 a0001c0010t0009g0171 a0001c0047t0005g0290 a0001c0125t0010g0286 a0002c0001t0002g0368 a0003c0140t0001g0223 a0004c0019t0001g0053 a0004c0019t0001g0054 a0004c0019t0007g0170 a0005c0014t0001g0051 a0005c0014t0001g0055 a0005c0014t0001g0056 a0005c0014t0001g0059 a0005c0015t0001g0157 a0005c0015t0001g0159 a0005c0015t0001g0232 a0008c0025t0002g0321 a0009c0007t0001g0216 a0010c0011t0001g0032 a0010c0011t0001g0034 a0010c0011t0001g0035 a0010c0011t0001g0143 a0010c0011t0001g0274 a0010c0082t0001g0162 a0013c0035t0010g0242 a0016c0042t0006g0381 a0018c0031t0008g0118 a0023c0079t0002g0388 a0024c0034t0001g0241 a0030c0146t0018g0057 a0070c0157t0001g0164 a0074c0168t0009g0029 a0081c0103t0001g0315	33	398	0.0829	-18	c.942 others(36): Show c.9427+998_9427+1015delGTGTGTGTGTGTGTGTGT	FAT2	ENSG00000086570.13	transcript	ENST00000261800.6	protein_coding	13/23			chr5	TogoVar
FAT3_chr11_92219818_92901473	92223800	CTCTCTCT others(11): Show CTCTCTCTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03195.hp2 HG01891.hp2 HG03195.hp2	a0001 a0035 a0001 a0035	a0001c0084 a0035c0085 a0001c0084 a0035c0085	a0001c0084t0014 a0035c0085t0014 a0001c0084t0014 a0035c0085t0014	a0001c0084t0014g0107 a0035c0085t0014g0108 a0001c0084t0014g0107 a0035c0085t0014g0108	2	118	0.0170	-18	c.-13 others(29): Show c.-1391_-1374delTCTCTCTGTGTGTGTGTG	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding		1017		chr11	TogoVar
FAT3_chr11_92219818_92901473	92293535	TATATATA others(11): Show TATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02970.hp2 HG03486.hp1 others(1): Show HG02818.hp1 HG02970.hp2 HG03486.hp1 NA20300.hp1	a0001 a0005 a0012 others(1): Show a0001 a0005 a0012 a0047	a0001c0051 a0005c0004 a0012c0064 others(1): Show a0001c0051 a0005c0004 a0012c0064 a0047c0068	a0001c0051t0088 a0005c0004t0042 a0012c0064t0041 others(1): Show a0001c0051t0088 a0005c0004t0042 a0012c0064t0041 a0047c0068t0037	a0001c0051t0088g0016 a0005c0004t0042g0116 a0012c0064t0041g0086 others(1): Show a0001c0051t0088g0016 a0005c0004t0042g0116 a0012c0064t0041g0086 a0047c0068t0037g0085	4	118	0.0339	-18	c.-17 others(37): Show c.-17-58557_-17-58540delTATATATATATATAAATA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92315502	TATATATA others(11): Show TATATATATATAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18522.hp2 NA19240.hp2 HG02809.hp1 NA18522.hp2 NA19240.hp2	a0003 a0004 a0003 a0004	a0003c0019 a0003c0032 a0004c0012 a0003c0019 a0003c0032 a0004c0012	a0003c0019t0058 a0003c0032t0013 a0004c0012t0002 a0003c0019t0058 a0003c0032t0013 a0004c0012t0002	a0003c0019t0058g0110 a0003c0032t0013g0109 a0004c0012t0002g0054 a0003c0019t0058g0110 a0003c0032t0013g0109 a0004c0012t0002g0054	3	118	0.0254	-18	c.-17 others(37): Show c.-17-36592_-17-36575delTATATATATAGAGAGAGA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92368909	TATACACA others(11): Show TATACACATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01243.hp1 HG01884.hp2 others(10): Show HG01169.hp1 HG01243.hp1 HG01884.hp2 HG02145.hp1 HG02559.hp1 HG02615.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02976.hp2 HG03195.hp1 NA18906.hp2	a0006 a0010 a0013 others(6): Show a0006 a0010 a0013 a0014 a0015 a0016 a0017 a0018 a0019	a0006c0076 a0006c0077 a0006c0078 others(10): Show a0006c0076 a0006c0077 a0006c0078 a0006c0079 a0010c0072 a0010c0073 a0013c0074 a0014c0071 a0015c0075 a0016c0081 a0017c0080 a0018c0082 a0019c0083	a0006c0076t0002 a0006c0077t0012 a0006c0078t0002 others(10): Show a0006c0076t0002 a0006c0077t0012 a0006c0078t0002 a0006c0079t0061 a0010c0072t0001 a0010c0073t0028 a0013c0074t0084 a0014c0071t0054 a0015c0075t0062 a0016c0081t0039 a0017c0080t0043 a0018c0082t0072 a0019c0083t0009	a0006c0076t0002g0061 a0006c0077t0012g0081 a0006c0078t0002g0065 others(10): Show a0006c0076t0002g0061 a0006c0077t0012g0081 a0006c0078t0002g0065 a0006c0079t0061g0114 a0010c0072t0001g0077 a0010c0073t0028g0052 a0013c0074t0084g0014 a0014c0071t0054g0064 a0015c0075t0062g0102 a0016c0081t0039g0042 a0017c0080t0043g0084 a0018c0082t0072g0013 a0019c0083t0009g0106	13	118	0.1102	-18	c.329 others(39): Show c.3292+13507_3292+13524delTACACATATATATATACA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92373760	GCACACAC others(11): Show GCACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02080.hp2 HG02109.hp1 others(11): Show HG02015.hp1 HG02080.hp2 HG02109.hp1 HG02258.hp2 HG02630.hp1 HG02683.hp1 HG02818.hp1 HG02970.hp2 HG03098.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG04204.hp1 HG06807.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0026 a0027 a0042	a0001c0006 a0001c0014 a0001c0051 others(9): Show a0001c0006 a0001c0014 a0001c0051 a0002c0001 a0002c0013 a0003c0020 a0003c0030 a0004c0012 a0005c0004 a0026c0040 a0027c0047 a0042c0061	a0001c0006t0029 a0001c0006t0052 a0001c0014t0036 others(11): Show a0001c0006t0029 a0001c0006t0052 a0001c0014t0036 a0001c0051t0088 a0002c0001t0003 a0002c0013t0004 a0003c0020t0086 a0003c0030t0005 a0004c0012t0004 a0005c0004t0017 a0005c0004t0042 a0026c0040t0002 a0027c0047t0011 a0042c0061t0001	a0001c0006t0029g0045 a0001c0006t0052g0028 a0001c0014t0036g0113 others(11): Show a0001c0006t0029g0045 a0001c0006t0052g0028 a0001c0014t0036g0113 a0001c0051t0088g0016 a0002c0001t0003g0029 a0002c0013t0004g0059 a0003c0020t0086g0017 a0003c0030t0005g0095 a0004c0012t0004g0044 a0005c0004t0017g0058 a0005c0004t0042g0116 a0026c0040t0002g0115 a0027c0047t0011g0063 a0042c0061t0001g0039	14	118	0.1186	-18	c.329 others(39): Show c.3292+18389_3292+18406delCACACACACACACACACA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92387063	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01243.hp1 HG01884.hp2 others(14): Show HG01099.hp2 HG01243.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02145.hp1 HG02615.hp1 HG02622.hp1 HG02698.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02976.hp2 HG04204.hp2 NA18906.hp2 NA18986.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0006 a0008 a0009 a0010 a0015 a0017 a0018 a0019 a0023 a0043	a0001c0035 a0002c0003 a0004c0009 others(13): Show a0001c0035 a0002c0003 a0004c0009 a0006c0076 a0006c0077 a0006c0078 a0006c0079 a0008c0021 a0009c0007 a0010c0073 a0015c0075 a0017c0080 a0018c0082 a0019c0083 a0023c0037 a0043c0063	a0001c0035t0033 a0002c0003t0022 a0002c0003t0076 others(14): Show a0001c0035t0033 a0002c0003t0022 a0002c0003t0076 a0004c0009t0001 a0006c0076t0002 a0006c0077t0012 a0006c0078t0002 a0006c0079t0061 a0008c0021t0024 a0009c0007t0004 a0010c0073t0028 a0015c0075t0062 a0017c0080t0043 a0018c0082t0072 a0019c0083t0009 a0023c0037t0056 a0043c0063t0012	a0001c0035t0033g0068 a0002c0003t0022g0038 a0002c0003t0076g0008 others(14): Show a0001c0035t0033g0068 a0002c0003t0022g0038 a0002c0003t0076g0008 a0004c0009t0001g0070 a0006c0076t0002g0061 a0006c0077t0012g0081 a0006c0078t0002g0065 a0006c0079t0061g0114 a0008c0021t0024g0101 a0009c0007t0004g0071 a0010c0073t0028g0052 a0015c0075t0062g0102 a0017c0080t0043g0084 a0018c0082t0072g0013 a0019c0083t0009g0106 a0023c0037t0056g0100 a0043c0063t0012g0093	17	118	0.1441	-18	c.329 others(39): Show c.3292+31690_3292+31707delGTGTGTGTGTGTGTGTGT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92412702	GATATATA others(11): Show GATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03453.hp2 HG03540.hp1 HG02258.hp2 HG03453.hp2 HG03540.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0006 a0003c0010 a0005c0004 a0001c0006 a0003c0010 a0005c0004	a0001c0006t0029 a0003c0010t0069 a0005c0004t0017 a0001c0006t0029 a0003c0010t0069 a0005c0004t0017	a0001c0006t0029g0045 a0003c0010t0069g0026 a0005c0004t0017g0058 a0001c0006t0029g0045 a0003c0010t0069g0026 a0005c0004t0017g0058	3	118	0.0254	-18	c.329 others(39): Show c.3292+57324_3292+57341delTATATATATATATATATA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92412728	TATATATA others(11): Show TATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0040 a0040	a0040c0056 a0040c0056	a0040c0056t0070 a0040c0056t0070	a0040c0056t0070g0021 a0040c0056t0070g0021	1	118	0.0085	-18	c.329 others(39): Show c.3292+57330_3292+57347delTATATATATATAAATATA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92412734	TATATATA others(11): Show TATATATATATAAATATAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0045 a0045	a0045c0066 a0045c0066	a0045c0066t0027 a0045c0066t0027	a0045c0066t0027g0057 a0045c0066t0027g0057	1	118	0.0085	-18	c.329 others(39): Show c.3292+57334_3292+57351delTATATATAAATATACATA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92471915	CTATATAT others(11): Show CTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01884.hp2 others(14): Show HG01243.hp1 HG01243.hp2 HG01884.hp2 HG02004.hp1 HG02145.hp1 HG02258.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02723.hp2 HG02818.hp2 HG02922.hp2 HG02976.hp2 HG03195.hp1 HG03540.hp1 NA18906.hp2	a0001 a0005 a0006 others(10): Show a0001 a0005 a0006 a0007 a0010 a0013 a0014 a0015 a0016 a0017 a0018 a0034 a0049	a0001c0006 a0005c0004 a0006c0076 others(13): Show a0001c0006 a0005c0004 a0006c0076 a0006c0077 a0006c0078 a0006c0079 a0007c0038 a0010c0073 a0013c0074 a0014c0071 a0015c0075 a0016c0081 a0017c0080 a0018c0082 a0034c0024 a0049c0070	a0001c0006t0029 a0001c0006t0067 a0005c0004t0017 others(14): Show a0001c0006t0029 a0001c0006t0067 a0005c0004t0017 a0006c0076t0002 a0006c0077t0012 a0006c0078t0002 a0006c0079t0061 a0007c0038t0057 a0010c0073t0028 a0013c0074t0084 a0014c0071t0054 a0015c0075t0062 a0016c0081t0039 a0017c0080t0043 a0018c0082t0072 a0034c0024t0010 a0049c0070t0001	a0001c0006t0029g0045 a0001c0006t0067g0018 a0005c0004t0017g0058 others(14): Show a0001c0006t0029g0045 a0001c0006t0067g0018 a0005c0004t0017g0058 a0006c0076t0002g0061 a0006c0077t0012g0081 a0006c0078t0002g0065 a0006c0079t0061g0114 a0007c0038t0057g0112 a0010c0073t0028g0052 a0013c0074t0084g0014 a0014c0071t0054g0064 a0015c0075t0062g0102 a0016c0081t0039g0042 a0017c0080t0043g0084 a0018c0082t0072g0013 a0034c0024t0010g0046 a0049c0070t0001g0031	17	118	0.1441	-18	c.329 others(39): Show c.3293-52695_3293-52678delATATATATATATATATAT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92478940	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0088 a0001c0051t0088	a0001c0051t0088g0016 a0001c0051t0088g0016	1	118	0.0085	-18	c.329 others(39): Show c.3293-45686_3293-45669delCTTTCTTTTCTTTTCTTT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92878650	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03486.hp2 HG02970.hp1 HG03486.hp2	a0001 a0001	a0001c0036 a0001c0052 a0001c0036 a0001c0052	a0001c0036t0016 a0001c0052t0015 a0001c0036t0016 a0001c0052t0015	a0001c0036t0016g0033 a0001c0052t0015g0027 a0001c0036t0016g0033 a0001c0052t0015g0027	2	118	0.0170	-18	c.121 others(39): Show c.12128-2080_12128-2063delAAAAAAAAAAAAAAAAAG	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	22/27			chr11	TogoVar
FAT4_chr4_125309955_125497932	125350180	CACTTTAG others(11): Show CACTTTAGAGCCAGTTGGA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02148.hp2 NA20905.hp1 HG00280.hp1 HG02148.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0001 a0001c0011t0001 a0001c0002t0001 a0001c0011t0001	a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0011t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0011t0001g0170	3	320	0.0094	-18	c.517 others(39): Show c.5175+28595_5175+28612delACTTTAGAGCCAGTTGGA	FAT4	ENSG00000196159.14	transcript	ENST00000394329.9	protein_coding	2/17			chr4	TogoVar
FAT4_chr4_125309955_125497932	125396926	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(78): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01884.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02129.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02523.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02886.hp1 HG03139.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04204.hp1 NA18612.hp1 NA18747.hp1 NA18943.hp2 NA18950.hp1 NA18954.hp1 NA18963.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19054.hp1 NA19060.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA19240.hp1 NA20129.hp1 NA20905.hp1	a0001 a0002 a0006 others(15): Show a0001 a0002 a0006 a0007 a0008 a0011 a0016 a0018 a0022 a0026 a0027 a0035 a0036 a0039 a0047 a0056 a0061 a0062	a0001c0002 a0001c0011 a0001c0016 others(30): Show a0001c0002 a0001c0011 a0001c0016 a0001c0037 a0001c0038 a0001c0087 a0001c0089 a0001c0108 a0001c0109 a0002c0001 a0002c0019 a0002c0022 a0002c0098 a0006c0008 a0006c0040 a0006c0078 a0007c0007 a0008c0043 a0011c0075 a0016c0100 a0016c0120 a0018c0115 a0018c0116 a0022c0039 a0026c0045 a0027c0114 a0035c0119 a0036c0049 a0039c0102 a0047c0077 a0056c0081 a0061c0088 a0062c0053	a0001c0002t0001 a0001c0002t0007 a0001c0002t0010 others(33): Show a0001c0002t0001 a0001c0002t0007 a0001c0002t0010 a0001c0011t0001 a0001c0016t0001 a0001c0037t0001 a0001c0038t0001 a0001c0087t0001 a0001c0089t0001 a0001c0108t0001 a0001c0109t0001 a0002c0001t0002 a0002c0019t0002 a0002c0022t0003 a0002c0098t0002 a0006c0008t0001 a0006c0008t0007 a0006c0040t0001 a0006c0078t0001 a0007c0007t0001 a0008c0043t0002 a0011c0075t0001 a0016c0100t0002 a0016c0120t0002 a0018c0115t0002 a0018c0116t0002 a0022c0039t0001 a0026c0045t0001 a0027c0114t0001 a0035c0119t0002 a0036c0049t0004 a0039c0102t0003 a0047c0077t0001 a0056c0081t0001 a0061c0088t0001 a0062c0053t0001	a0001c0002t0001g0087 a0001c0002t0001g0127 a0001c0002t0001g0130 others(78): Show a0001c0002t0001g0087 a0001c0002t0001g0127 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0138 a0001c0002t0001g0143 a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0186 a0001c0002t0001g0190 a0001c0002t0007g0137 a0001c0002t0010g0182 a0001c0011t0001g0136 a0001c0011t0001g0160 a0001c0011t0001g0169 a0001c0011t0001g0170 a0001c0011t0001g0173 a0001c0011t0001g0184 a0001c0016t0001g0179 a0001c0016t0001g0180 a0001c0037t0001g0155 a0001c0037t0001g0157 a0001c0038t0001g0144 a0001c0038t0001g0145 a0001c0087t0001g0151 a0001c0089t0001g0148 a0001c0108t0001g0158 a0001c0109t0001g0164 a0002c0001t0002g0195 a0002c0001t0002g0196 a0002c0001t0002g0197 a0002c0001t0002g0198 a0002c0019t0002g0307 a0002c0019t0002g0310 a0002c0019t0002g0314 a0002c0022t0003g0273 a0002c0098t0002g0063 a0006c0008t0001g0159 a0006c0008t0007g0176 a0006c0008t0007g0177 a0006c0040t0001g0095 a0006c0040t0001g0129 a0006c0078t0001g0156 a0007c0007t0001g0080 a0007c0007t0001g0081 a0007c0007t0001g0082 a0007c0007t0001g0084 a0007c0007t0001g0085 a0007c0007t0001g0086 a0007c0007t0001g0088 a0007c0007t0001g0089 a0007c0007t0001g0090 a0007c0007t0001g0140 a0008c0043t0002g0199 a0011c0075t0001g0249 a0016c0100t0002g0098 a0016c0120t0002g0291 a0018c0115t0002g0294 a0018c0116t0002g0317 a0022c0039t0001g0188 a0022c0039t0001g0189 a0026c0045t0001g0141 a0026c0045t0001g0178 a0027c0114t0001g0183 a0035c0119t0002g0316 a0036c0049t0004g0048 a0039c0102t0003g0274 a0047c0077t0001g0091 a0056c0081t0001g0175 a0061c0088t0001g0181 a0062c0053t0001g0142	81	320	0.2531	-18	c.517 others(37): Show c.5176-1835_5176-1818delTATATATATATATATATA	FAT4	ENSG00000196159.14	transcript	ENST00000394329.9	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAXC_chr6_99266168_99354674	99349483	GGGCGGCG others(11): Show GGGCGGCGGCGACTGAGGA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0186 a0001c0001t0107g0186	1	398	0.0025	-18	c.-12 others(27): Show c.-129_-112delTCCTCAGTCGCCGCCGCC	FAXC	ENSG00000146267.12	transcript	ENST00000389677.6	protein_coding	1/6	112		chr6	TogoVar
FBLL1_chr5_168524305_168535634	168524966	ATATATAT others(11): Show ATATATATATATTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01516.hp1 HG01517.hp1 others(1): Show HG01175.hp2 HG01516.hp1 HG01517.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	4	460	0.0087	-18	c.-45 others(29): Show c.-4538_-4521delTATATATATATTTTTTTT	FBLL1	ENSG00000188573.8	transcript	ENST00000338333.5	protein_coding		4338		chr5	TogoVar
FBLL1_chr5_168524305_168535634	168527537	TACTACAG others(11): Show TACTACAGGTACTACAGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	460	0.0022	-18	c.-19 others(29): Show c.-1967_-1950delACTACAGGTACTACAGTG	FBLL1	ENSG00000188573.8	transcript	ENST00000338333.5	protein_coding		1767		chr5	TogoVar
FBLN1_chr22_45497883_45606135	45569642	AAAGAAGA others(11): Show AAAGAAGAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG01891.hp2 others(7): Show HG01243.hp2 HG01884.hp1 HG01891.hp2 HG02559.hp1 HG02630.hp2 HG02723.hp2 HG03139.hp1 HG03453.hp1 HG03540.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0022 a0001c0001 a0001c0002 a0001c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0022t0001	a0001c0001t0001g0332 a0001c0001t0002g0222 a0001c0001t0002g0318 others(7): Show a0001c0001t0001g0332 a0001c0001t0002g0222 a0001c0001t0002g0318 a0001c0001t0003g0303 a0001c0001t0009g0279 a0001c0002t0001g0016 a0001c0002t0001g0203 a0001c0002t0002g0017 a0001c0002t0002g0317 a0001c0022t0001g0325	10	346	0.0289	-18	c.169 others(37): Show c.1698-4846_1698-4829delAGAAGAAGAAGAAGAAGA	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBLN1_chr22_45497883_45606135	45602817	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0280 a0001c0002t0001g0280	1	346	0.0029	-18	c.23 others(29): Show c.2372_*2389delAAAAAAAAAAAAAAAAAA	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding		1683		chr22	TogoVar
FBLN2_chr3_13544125_13643404	13569283	GCCAGGCT others(11): Show GCCAGGCTCAGCTGGGAAT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp2 HG01884.hp1 others(26): Show HG01081.hp1 HG01109.hp2 HG01884.hp1 HG01891.hp1 HG02257.hp1 HG02572.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02976.hp1 HG02976.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0004 a0005 others(6): Show a0001 a0004 a0005 a0006 a0009 a0012 a0016 a0027 a0030	a0001c0019 a0004c0014 a0004c0049 others(16): Show a0001c0019 a0004c0014 a0004c0049 a0004c0057 a0004c0058 a0005c0008 a0005c0018 a0005c0051 a0006c0020 a0006c0080 a0006c0081 a0006c0082 a0009c0044 a0009c0045 a0012c0084 a0012c0085 a0016c0070 a0027c0056 a0030c0083	a0001c0019t0001 a0001c0019t0005 a0004c0014t0002 others(20): Show a0001c0019t0001 a0001c0019t0005 a0004c0014t0002 a0004c0014t0010 a0004c0049t0004 a0004c0057t0004 a0004c0058t0010 a0005c0008t0001 a0005c0018t0004 a0005c0018t0009 a0005c0051t0015 a0006c0020t0004 a0006c0020t0009 a0006c0080t0008 a0006c0081t0012 a0006c0082t0012 a0009c0044t0010 a0009c0045t0012 a0012c0084t0002 a0012c0085t0001 a0016c0070t0007 a0027c0056t0004 a0030c0083t0001	a0001c0019t0001g0257 a0001c0019t0005g0258 a0001c0019t0005g0259 others(26): Show a0001c0019t0001g0257 a0001c0019t0005g0258 a0001c0019t0005g0259 a0004c0014t0002g0280 a0004c0014t0002g0281 a0004c0014t0010g0270 a0004c0049t0004g0290 a0004c0057t0004g0008 a0004c0058t0010g0011 a0005c0008t0001g0278 a0005c0018t0004g0009 a0005c0018t0009g0007 a0005c0018t0009g0012 a0005c0018t0009g0070 a0005c0051t0015g0279 a0006c0020t0004g0306 a0006c0020t0009g0305 a0006c0020t0009g0307 a0006c0020t0009g0309 a0006c0080t0008g0239 a0006c0081t0012g0308 a0006c0082t0012g0310 a0009c0044t0010g0006 a0009c0045t0012g0029 a0012c0084t0002g0303 a0012c0085t0001g0302 a0016c0070t0007g0020 a0027c0056t0004g0010 a0030c0083t0001g0304	29	312	0.0930	-18	c.-41 others(35): Show c.-41-1027_-41-1010delGCTCAGCTGGGAATCCAG	FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
FBLN7_chr2_112133385_112193218	112160642	ACACGCGC others(11): Show ACACGCGCACGCACACGCG	A A	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA19070.hp2 NA18979.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0238 a0001c0001t0001g0239	2	346	0.0058	-18	c.235 others(33): Show c.235+813_235+830delGCACGCACACGCGCACGC	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FBLN7_chr2_112133385_112193218	112160648	GCACGCAC others(11): Show GCACGCACACGCGCACGCA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03490.hp2 HG03492.hp1 others(2): Show HG02970.hp1 HG03490.hp2 HG03492.hp1 NA19030.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0005t0007 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0005t0007 a0002c0002t0002 a0002c0002t0003	a0001c0001t0001g0188 a0001c0005t0007g0011 a0002c0002t0002g0056 others(1): Show a0001c0001t0001g0188 a0001c0005t0007g0011 a0002c0002t0002g0056 a0002c0002t0003g0075	5	346	0.0145	-18	c.235 others(33): Show c.235+825_235+842delGCACGCACACGCACACGC	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FBN1_chr15_48403313_48650709	48542781	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01361.hp1 HG01981.hp1 others(12): Show HG00642.hp2 HG01361.hp1 HG01981.hp1 HG02027.hp2 HG02293.hp2 HG02735.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03491.hp2 HG03834.hp2 HG04204.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0017 a0001c0001 a0002c0003 a0004c0017	a0001c0001t0002 a0002c0003t0006 a0004c0017t0002 a0001c0001t0002 a0002c0003t0006 a0004c0017t0002	a0001c0001t0002g0003 a0001c0001t0002g0071 a0001c0001t0002g0073 others(12): Show a0001c0001t0002g0003 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0216 a0001c0001t0002g0288 a0002c0003t0006g0163 a0004c0017t0002g0023	15	288	0.0521	-18	c.539 others(35): Show c.539-4991_539-4974delCACACACACACACACACA	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48621596	GTGGTATC others(11): Show GTGGTATCCTAGATGGGAT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02886.hp1 NA19240.hp2 HG02818.hp2 HG02886.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0003 a0001c0004t0010 a0001c0002t0001 a0001c0002t0003 a0001c0004t0010	a0001c0002t0001g0011 a0001c0002t0003g0024 a0001c0004t0010g0012 a0001c0002t0001g0011 a0001c0002t0003g0024 a0001c0004t0010g0012	3	288	0.0104	-18	c.165 others(35): Show c.165-8522_165-8505delATCCCATCTAGGATACCA	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	2/65			chr15	TogoVar
FBN2_chr5_128252909_128543245	128310386	ATATATAT others(11): Show ATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0002 a0001c0028t0002	a0001c0028t0002g0022 a0001c0028t0002g0022	1	236	0.0042	-18	c.507 others(35): Show c.5075-296_5075-279delAATATATATATATATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	39/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128310388	ATATATAT others(11): Show ATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA20129.hp2 HG02630.hp2 NA20129.hp2	a0002 a0025 a0002 a0025	a0002c0002 a0025c0069 a0002c0002 a0025c0069	a0002c0002t0005 a0025c0069t0005 a0002c0002t0005 a0025c0069t0005	a0002c0002t0005g0102 a0025c0069t0005g0109 a0002c0002t0005g0102 a0025c0069t0005g0109	2	236	0.0085	-18	c.507 others(35): Show c.5075-298_5075-281delAAAATATATATATATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	39/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128310390	ATATATAT others(11): Show ATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18964.hp2 HG03491.hp2 NA18964.hp2	a0003 a0007 a0003 a0007	a0003c0006 a0007c0022 a0003c0006 a0007c0022	a0003c0006t0004 a0007c0022t0001 a0003c0006t0004 a0007c0022t0001	a0003c0006t0004g0046 a0007c0022t0001g0131 a0003c0006t0004g0046 a0007c0022t0001g0131	2	236	0.0085	-18	c.507 others(35): Show c.5075-300_5075-283delAAAAAATATATATATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	39/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128310392	ATATATAT others(11): Show ATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA20129.hp1 NA20905.hp1 HG02155.hp2 NA20129.hp1 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0002 a0004c0005 a0001c0003 a0002c0002 a0004c0005	a0001c0003t0006 a0002c0002t0001 a0004c0005t0001 a0001c0003t0006 a0002c0002t0001 a0004c0005t0001	a0001c0003t0006g0060 a0002c0002t0001g0130 a0004c0005t0001g0193 a0001c0003t0006g0060 a0002c0002t0001g0130 a0004c0005t0001g0193	3	236	0.0127	-18	c.507 others(35): Show c.5075-302_5075-285delAAAAAAAATATATATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	39/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128310394	ATATATAT others(11): Show ATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0027 a0002c0029t0027	a0002c0029t0027g0118 a0002c0029t0027g0118	1	236	0.0042	-18	c.507 others(35): Show c.5075-304_5075-287delAAAAAAAAAATATATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	39/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128479970	CTCTCTCT others(11): Show CTCTCTCTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0100 a0001c0003t0005g0100	1	236	0.0042	-18	c.629 others(37): Show c.629-15067_629-15050delTATATATATATAGAGAGA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	5/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128479974	CTCTATAT others(11): Show CTCTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA18977.hp2 HG03669.hp2 NA18977.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0005 a0003c0004 a0004c0005	a0003c0004t0003 a0004c0005t0001 a0003c0004t0003 a0004c0005t0001	a0003c0004t0003g0012 a0004c0005t0001g0197 a0003c0004t0003g0012 a0004c0005t0001g0197	2	236	0.0085	-18	c.629 others(37): Show c.629-15071_629-15054delTATATATATATATATAGA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	5/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128479976	CTATATAT others(11): Show CTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03654.hp1 NA19058.hp2 HG02109.hp1 HG03654.hp1 NA19058.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0005 a0001c0003 a0004c0005	a0001c0003t0001 a0004c0005t0001 a0001c0003t0001 a0004c0005t0001	a0001c0003t0001g0140 a0001c0003t0001g0182 a0004c0005t0001g0200 a0001c0003t0001g0140 a0001c0003t0001g0182 a0004c0005t0001g0200	3	236	0.0127	-18	c.629 others(37): Show c.629-15073_629-15056delTATATATATATATATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	5/64			chr5	TogoVar
FBRSL1_chr12_132485151_132590188	132531173	GCCCAGGA others(11): Show GCCCAGGAGCAGGACAGGA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG01891.hp2 others(21): Show HG01167.hp1 HG01243.hp1 HG01891.hp2 HG02258.hp1 HG02486.hp2 HG02602.hp1 HG02615.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp2 NA18906.hp2 NA19240.hp1	a0000 a0001 a0002 others(2): Show a0000 a0001 a0002 a0003 a0006	a0000c0009 a0000c0014 a0000c0022 others(5): Show a0000c0009 a0000c0014 a0000c0022 a0000c0089 a0001c0011 a0002c0004 a0003c0001 a0006c0008	a0000c0009t0008 a0000c0014t0033 a0000c0022t0001 others(13): Show a0000c0009t0008 a0000c0014t0033 a0000c0022t0001 a0000c0089t0008 a0001c0011t0039 a0001c0011t0040 a0001c0011t0046 a0001c0011t0049 a0002c0004t0001 a0002c0004t0008 a0003c0001t0001 a0003c0001t0008 a0003c0001t0030 a0006c0008t0005 a0006c0008t0007 a0006c0008t0025	a0000c0009t0008g0179 a0000c0014t0033g0165 a0000c0022t0001g0134 others(21): Show a0000c0009t0008g0179 a0000c0014t0033g0165 a0000c0022t0001g0134 a0000c0089t0008g0162 a0001c0011t0039g0339 a0001c0011t0040g0338 a0001c0011t0046g0239 a0001c0011t0049g0340 a0002c0004t0001g0133 a0002c0004t0008g0087 a0003c0001t0001g0178 a0003c0001t0008g0180 a0003c0001t0008g0181 a0003c0001t0008g0182 a0003c0001t0008g0185 a0003c0001t0008g0186 a0003c0001t0030g0189 a0006c0008t0005g0252 a0006c0008t0007g0151 a0006c0008t0007g0236 a0006c0008t0007g0254 a0006c0008t0007g0255 a0006c0008t0007g0256 a0006c0008t0025g0251	24	348	0.0690	-18	c.615 others(35): Show c.615+3234_615+3251delACAGGACCCAGGAGCAGG	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXL13_chr7_102806189_103079796	103024135	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	328	0.0031	-18	c.765 others(33): Show c.765+910_765+927delCTCTCTCTCTCTCTCTCT	FBXL13	ENSG00000161040.19	transcript	ENST00000440067.4	protein_coding	7/20			chr7	TogoVar
FBXL14_chr12_1560993_1599581	1562746	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00544.hp2 others(50): Show HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00642.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01346.hp1 HG01358.hp2 HG01891.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02523.hp2 HG02615.hp2 HG02717.hp1 HG03041.hp1 HG03041.hp2 HG03239.hp1 HG03516.hp1 HG03710.hp2 HG03942.hp1 HG04184.hp1 HG04228.hp2 NA18943.hp1 NA18948.hp1 NA18951.hp1 NA18961.hp2 NA18965.hp1 NA18968.hp1 NA18974.hp2 NA18975.hp2 NA18983.hp1 NA18991.hp2 NA18998.hp2 NA19002.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0019 a0001c0002t0001 a0001c0002t0005 a0001c0002t0016 a0001c0003t0003 a0001c0003t0005 a0001c0004t0006 a0001c0004t0010 a0001c0004t0027 a0001c0004t0037 a0001c0005t0011	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0103 others(47): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0103 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0184 a0001c0001t0001g0199 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0234 a0001c0001t0001g0248 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0002g0015 a0001c0001t0002g0281 a0001c0001t0002g0294 a0001c0001t0002g0331 a0001c0001t0003g0094 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0188 a0001c0001t0003g0260 a0001c0001t0004g0105 a0001c0001t0004g0163 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0206 a0001c0001t0005g0364 a0001c0001t0005g0373 a0001c0001t0006g0034 a0001c0001t0007g0008 a0001c0001t0008g0013 a0001c0001t0008g0290 a0001c0001t0008g0293 a0001c0001t0008g0337 a0001c0001t0014g0390 a0001c0001t0019g0391 a0001c0002t0001g0276 a0001c0002t0005g0376 a0001c0002t0016g0274 a0001c0003t0003g0062 a0001c0003t0003g0063 a0001c0003t0005g0349 a0001c0004t0006g0030 a0001c0004t0010g0051 a0001c0004t0027g0027 a0001c0004t0037g0397 a0001c0005t0011g0394 a0001c0005t0011g0395	53	418	0.1268	-18	c.39 others(29): Show c.3984_*4001delCACACACACACACACACA	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding		3246		chr12	TogoVar
FBXL14_chr12_1560993_1599581	1562782	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	418	0.0024	-18	c.39 others(29): Show c.3948_*3965delAACACACACACACACACA	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding		3210		chr12	TogoVar
FBXL14_chr12_1560993_1599581	1597512	GTATATAT others(11): Show GTATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01070.hp2 others(16): Show HG00642.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01433.hp1 HG01433.hp2 HG01943.hp1 HG01952.hp2 HG02027.hp1 HG02258.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02976.hp2 HG03471.hp2 HG03516.hp2 HG03704.hp1 NA18947.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0030 a0001c0001t0033	a0001c0001t0001g0074 a0001c0001t0001g0112 a0001c0001t0001g0113 others(15): Show a0001c0001t0001g0074 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0142 a0001c0001t0001g0172 a0001c0001t0001g0222 a0001c0001t0001g0261 a0001c0001t0002g0286 a0001c0001t0003g0174 a0001c0001t0003g0225 a0001c0001t0004g0156 a0001c0001t0007g0008 a0001c0001t0007g0171 a0001c0001t0010g0058 a0001c0001t0030g0098 a0001c0001t0033g0284	19	418	0.0455	-18	c.-34 others(29): Show c.-3464_-3447delTATATATATATATATATA	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding		2932		chr12	TogoVar
FBXL17_chr5_107854035_108387098	107946255	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00741.hp1 HG02300.hp2 others(17): Show HG00558.hp1 HG00741.hp1 HG02300.hp2 HG02559.hp2 HG02886.hp1 HG02922.hp1 HG03130.hp1 HG03195.hp2 HG04115.hp1 NA18945.hp1 NA18962.hp1 NA18965.hp2 NA18970.hp2 NA18973.hp1 NA18975.hp2 NA18983.hp1 NA18994.hp2 NA19058.hp1 NA19088.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0011 others(1): Show a0001c0001 a0001c0004 a0001c0011 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0021 a0001c0001t0046 a0001c0001t0054 a0001c0004t0063 a0001c0011t0004 a0001c0011t0020 a0002c0003t0005	a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0132 others(17): Show a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0132 a0001c0001t0001g0153 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0002g0130 a0001c0001t0002g0183 a0001c0001t0003g0126 a0001c0001t0003g0148 a0001c0001t0004g0173 a0001c0001t0012g0053 a0001c0001t0021g0185 a0001c0001t0046g0068 a0001c0001t0054g0184 a0001c0004t0063g0242 a0001c0011t0004g0226 a0001c0011t0020g0227 a0002c0003t0005g0232	20	244	0.0820	-18	c.182 others(39): Show c.1823-65094_1823-65077delTATATATATATATATATA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108009261	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0044 a0001c0001t0039g0044	1	244	0.0041	-18	c.182 others(39): Show c.1822+11646_1822+11663delTATATATATATATATATA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108055280	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0235 a0002c0003t0005g0235	1	244	0.0041	-18	c.174 others(39): Show c.1746-34297_1746-34280delTTTTTTTTTTTTTTTTTT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	6/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108055296	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01192.hp1 HG01517.hp1 others(4): Show HG01081.hp1 HG01192.hp1 HG01517.hp1 HG01978.hp1 HG03130.hp2 NA19090.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010	a0001c0001t0002g0098 a0001c0001t0002g0149 a0001c0001t0003g0102 others(4): Show a0001c0001t0002g0098 a0001c0001t0002g0149 a0001c0001t0003g0102 a0001c0001t0005g0099 a0001c0001t0005g0100 a0001c0001t0005g0145 a0001c0001t0010g0139	7	244	0.0287	-18	c.174 others(39): Show c.1746-34313_1746-34296delCTTTTTTTTTTTTTTTTT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	6/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108242349	TTTGTTGT others(11): Show TTTGTTGTTGTTGTTGTTG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00741.hp1 HG02486.hp2 others(5): Show HG00423.hp2 HG00741.hp1 HG02486.hp2 HG02723.hp2 HG03139.hp2 NA18983.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0011 a0001c0001t0016 a0001c0004t0030 others(3): Show a0001c0001t0011 a0001c0001t0016 a0001c0004t0030 a0001c0004t0031 a0001c0004t0063 a0001c0004t0064	a0001c0001t0011g0026 a0001c0001t0016g0007 a0001c0004t0030g0238 others(5): Show a0001c0001t0011g0026 a0001c0001t0016g0007 a0001c0004t0030g0238 a0001c0004t0030g0239 a0001c0004t0031g0240 a0001c0004t0031g0243 a0001c0004t0063g0242 a0001c0004t0064g0241	8	244	0.0328	-18	c.150 others(39): Show c.1507-18139_1507-18122delCAACAACAACAACAACAA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	4/8			chr5	TogoVar
FBXL18_chr7_5470797_5518809	5494877	AAAACCTT others(11): Show AAAACCTTTTTTCCACGAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02970.hp1 NA19240.hp2 others(1): Show HG02451.hp2 HG02970.hp1 NA19240.hp2 NA20129.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0024 a0003c0009t0118 a0003c0009t0024 a0003c0009t0118	a0003c0009t0024g0324 a0003c0009t0024g0325 a0003c0009t0024g0327 others(1): Show a0003c0009t0024g0324 a0003c0009t0024g0325 a0003c0009t0024g0327 a0003c0009t0118g0326	4	338	0.0118	-18	c.178 others(37): Show c.1782-3446_1782-3429delCTCGTGGAAAAAAGGTTT	FBXL18	ENSG00000155034.21	transcript	ENST00000382368.8	protein_coding	3/4			chr7	TogoVar
FBXL19_chr16_30918572_30953783	30918903	CCTTCTTC others(11): Show CCTTCTTCTCCTTCTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	238	0.0042	-18	c.-55 others(29): Show c.-5580_-5563delCTTCTTCTCCTTCTTCTT	FBXL19	ENSG00000099364.18	transcript	ENST00000338343.10	protein_coding		4668		chr16	TogoVar

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