Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
LSG1_chr3_194635791_194677191	194645515	C C	CACACACA others(11): Show CACACACACACACAGACAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0033 a0001c0007t0033	a0001c0007t0033g0346 a0001c0007t0033g0346	1	408	0.0025	18	c.162 others(35): Show c.1623+648_1623+649insCTGTCTGTGTGTGTGTGT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	12/13			chr3	TogoVar
LSG1_chr3_194635791_194677191	194645537	C C	CACACACA others(11): Show CACACACACACACAGACAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0128	1	408	0.0025	18	c.162 others(35): Show c.1623+626_1623+627insCTGTCTGTGTGTGTGTGT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	12/13			chr3	TogoVar
LSG1_chr3_194635791_194677191	194645541	C C	CACACACA others(11): Show CACACACACACACAGACAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 NA19070.hp1 HG01069.hp1 HG01071.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0220 a0001c0001t0019g0132 a0001c0001t0019g0133 a0001c0001t0001g0220 a0001c0001t0019g0132 a0001c0001t0019g0133	3	408	0.0074	18	c.162 others(35): Show c.1623+622_1623+623insCTGTCTGTGTGTGTGTGT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	12/13			chr3	TogoVar
LSG1_chr3_194635791_194677191	194645593	C C	CACACACA others(11): Show CACACACACAGACAGACAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0042 a0002c0002t0042	a0002c0002t0042g0236 a0002c0002t0042g0236	1	408	0.0025	18	c.162 others(35): Show c.1623+570_1623+571insCTGTCTGTCTGTGTGTGT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	12/13			chr3	TogoVar
LSG1_chr3_194635791_194677191	194667923	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00438.hp2 others(4): Show HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp2 HG01255.hp1 HG02132.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0002 a0001c0003t0008 a0001c0003t0009 others(1): Show a0001c0003t0002 a0001c0003t0008 a0001c0003t0009 a0001c0013t0073	a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0191 others(4): Show a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0191 a0001c0003t0002g0217 a0001c0003t0008g0192 a0001c0003t0009g0210 a0001c0013t0073g0142	7	408	0.0172	18	c.227 others(35): Show c.227-1369_227-1352dupTTTTTTTTTTTTTTTTTT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	2/13			chr3	TogoVar
LSG1_chr3_194635791_194677191	194667942	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA18946.hp1 HG01069.hp2 NA18946.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0071 a0001c0003t0015 a0001c0003t0071	a0001c0003t0015g0147 a0001c0003t0071g0148 a0001c0003t0015g0147 a0001c0003t0071g0148	2	408	0.0049	18	c.227 others(35): Show c.227-1371_227-1370insATATTTTTTTTTTTTTTT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	2/13			chr3	TogoVar
LSM10_chr1_36388436_36402908	36402885	T T	TTATATAT others(11): Show TTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	432	0.0023	18	c.-51 others(29): Show c.-5144_-5143insTATATATATATATATATA	LSM10	ENSG00000181817.6	transcript	ENST00000315732.3	protein_coding		4978		chr1	TogoVar
LSM10_chr1_36388436_36402908	36402900	T T	TATATATA others(11): Show TATATATATATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18948.hp2 NA19058.hp2 NA18945.hp2 NA18948.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	3	432	0.0069	18	c.-51 others(29): Show c.-5159_-5158insGTGTGTGTATATATATAT	LSM10	ENSG00000181817.6	transcript	ENST00000315732.3	protein_coding		4993		chr1	TogoVar
LSM10_chr1_36388436_36402908	36402900	T T	TATATATA others(11): Show TATATATATATATACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG02027.hp1 HG02056.hp1 others(18): Show HG00597.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 NA18949.hp1 NA18963.hp1 NA18986.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19012.hp1 NA19077.hp2 NA19079.hp2 NA19085.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0004 a0001c0001t0001g0029	21	432	0.0486	18	c.-51 others(29): Show c.-5159_-5158insGTGTGTATATATATATAT	LSM10	ENSG00000181817.6	transcript	ENST00000315732.3	protein_coding		4993		chr1	TogoVar
LSM10_chr1_36388436_36402908	36402900	T T	TATATATA others(11): Show TATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	432	0.0023	18	c.-51 others(29): Show c.-5159_-5158insGTGTATATATATATATAT	LSM10	ENSG00000181817.6	transcript	ENST00000315732.3	protein_coding		4993		chr1	TogoVar
LSM10_chr1_36388436_36402908	36402900	T T	TATATATA others(11): Show TATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02922.hp1 others(3): Show HG01069.hp2 HG01071.hp1 HG02922.hp1 HG06807.hp2 NA18955.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0060 a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0060	6	432	0.0139	18	c.-51 others(29): Show c.-5159_-5158insGTATATATATATATATAT	LSM10	ENSG00000181817.6	transcript	ENST00000315732.3	protein_coding		4993		chr1	TogoVar
LSM14A_chr19_34167504_34234288	34192319	G G	GTTGTTTT others(11): Show GTTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG06807.hp1 NA19240.hp1 HG01891.hp1 HG06807.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150	3	315	0.0095	18	c.122 others(35): Show c.122-2157_122-2156insGTTTTTTTTTTTTTTTTT	LSM14A	ENSG00000257103.9	transcript	ENST00000544216.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
LSM14A_chr19_34167504_34234288	34227790	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp1 NA18979.hp2 NA19004.hp2 others(1): Show HG00621.hp1 NA18979.hp2 NA19004.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0036 a0001c0001t0023 a0001c0001t0036	a0001c0001t0023g0064 a0001c0001t0023g0068 a0001c0001t0023g0096 others(1): Show a0001c0001t0023g0064 a0001c0001t0023g0068 a0001c0001t0023g0096 a0001c0001t0036g0095	4	315	0.0127	18	c.42 others(27): Show c.424_*441dupGTGTGTGTGTGTGTGTGT	LSM14A	ENSG00000257103.9	transcript	ENST00000544216.8	protein_coding	10/10	442	INFO_REALIGN_3_PRIME	chr19	TogoVar
LSM1_chr8_38158339_38181493	38180522	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0129 a0001c0001t0004g0129	1	402	0.0025	18	c.-42 others(29): Show c.-4220_-4203dupTTTTTTTTTTTTTTTTTT	LSM1	ENSG00000175324.10	transcript	ENST00000311351.9	protein_coding		4030		chr8	TogoVar
LSP1_chr11_1848084_1897263	1849552	G G	GCACGCGC others(11): Show GCACGCGCACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0177 a0002c0001t0002g0177	1	360	0.0028	18	c.-35 others(29): Show c.-3593_-3592insCACGCGCACACACACACA	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding		3531		chr11	TogoVar
LSP1_chr11_1848084_1897263	1849554	G G	GCGCGCAC others(11): Show GCGCGCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01070.hp1 HG01071.hp2 others(10): Show HG00621.hp2 HG01070.hp1 HG01071.hp2 HG02080.hp1 HG02148.hp2 HG02523.hp2 NA18944.hp2 NA18983.hp1 NA18983.hp2 NA19004.hp2 NA19070.hp2 NA19085.hp1 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0002c0005 a0003c0004	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 others(3): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0002c0001t0002 a0002c0005t0001 a0003c0004t0001	a0001c0002t0001g0002 a0001c0002t0001g0025 a0001c0002t0001g0100 others(9): Show a0001c0002t0001g0002 a0001c0002t0001g0025 a0001c0002t0001g0100 a0001c0002t0001g0113 a0001c0003t0001g0043 a0001c0003t0001g0069 a0002c0001t0001g0205 a0002c0001t0001g0252 a0002c0001t0002g0016 a0002c0005t0001g0119 a0003c0004t0001g0204 a0003c0004t0001g0212	13	360	0.0361	18	c.-35 others(29): Show c.-3591_-3590insCGCGCACACACACACACA	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding		3529		chr11	TogoVar
LSP1_chr11_1848084_1897263	1849554	G G	GCGCGCGC others(11): Show GCGCGCGCACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02074.hp2 HG02083.hp2 others(1): Show HG00438.hp2 HG02074.hp2 HG02083.hp2 NA18942.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0001c0002t0001 a0001c0003t0001 a0002c0001t0001	a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0003t0001g0061 others(1): Show a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0003t0001g0061 a0002c0001t0001g0076	4	360	0.0111	18	c.-35 others(29): Show c.-3591_-3590insCGCGCGCACACACACACA	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding		3529		chr11	TogoVar
LSP1_chr11_1848084_1897263	1849554	G G	GCGCGCGC others(11): Show GCGCGCGCGCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0273 a0002c0001t0001g0273	1	360	0.0028	18	c.-35 others(29): Show c.-3591_-3590insCGCGCGCGCACACACACA	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding		3529		chr11	TogoVar
LSR_chr19_35244002_35272964	35251843	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02523.hp1 HG01070.hp1 HG02523.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0169 a0001c0004t0001g0179 a0001c0004t0001g0169 a0001c0004t0001g0179	2	438	0.0046	18	c.454 others(35): Show c.454+1193_454+1194insTTTTTTTTTTTTTTTTTT	LSR	ENSG00000105699.17	transcript	ENST00000605618.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
LSS_chr21_46183446_46233774	46228815	C C	CCCCGCCC others(11): Show CCCCGCCCCTCCCGCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02258.hp2 HG03516.hp2 others(3): Show HG02004.hp1 HG02258.hp2 HG03516.hp2 HG06807.hp1 NA18970.hp2 NA18991.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0012c0022	a0001c0001t0001 a0001c0005t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0002 a0012c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0154 a0001c0001t0001g0240 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0154 a0001c0001t0001g0240 a0001c0005t0001g0283 a0002c0002t0002g0067 a0012c0022t0001g0188	6	358	0.0168	18	c.-71 others(25): Show c.-71_-70insAGGGGCGGGAGGGGCGGG	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		42		chr21	TogoVar
LTBP1_chr2_32941953_33404509	32969227	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0001 a0001c0045t0001	a0001c0045t0001g0090 a0001c0045t0001g0090	1	164	0.0061	18	c.565 others(37): Show c.565+20283_565+20284insGTGTGTGTGTGTGTGTGT	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr2	TogoVar
LTBP1_chr2_32941953_33404509	33182687	G G	GAGATATA others(11): Show GAGATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00738.hp1 others(14): Show HG00280.hp2 HG00408.hp1 HG00738.hp1 HG01081.hp2 HG01928.hp1 HG02055.hp2 HG02622.hp2 HG03098.hp2 HG03195.hp1 HG03831.hp2 NA18944.hp1 NA18955.hp1 NA18955.hp2 NA18979.hp1 NA19030.hp1 NA19043.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0008 others(5): Show a0001c0003 a0001c0004 a0001c0008 a0001c0012 a0001c0014 a0001c0015 a0001c0049 a0002c0009	a0001c0003t0001 a0001c0003t0005 a0001c0003t0006 others(12): Show a0001c0003t0001 a0001c0003t0005 a0001c0003t0006 a0001c0003t0027 a0001c0004t0018 a0001c0008t0008 a0001c0008t0025 a0001c0012t0024 a0001c0014t0002 a0001c0015t0001 a0001c0015t0002 a0001c0049t0040 a0002c0009t0001 a0002c0009t0008 a0002c0009t0012	a0001c0003t0001g0084 a0001c0003t0001g0096 a0001c0003t0005g0146 others(14): Show a0001c0003t0001g0084 a0001c0003t0001g0096 a0001c0003t0005g0146 a0001c0003t0005g0153 a0001c0003t0006g0123 a0001c0003t0027g0087 a0001c0004t0018g0138 a0001c0008t0008g0075 a0001c0008t0025g0082 a0001c0012t0024g0093 a0001c0014t0002g0032 a0001c0015t0001g0021 a0001c0015t0002g0035 a0001c0049t0040g0130 a0002c0009t0001g0157 a0002c0009t0008g0077 a0002c0009t0012g0159	17	164	0.1037	18	c.120 others(37): Show c.1202-4168_1202-4167insGATATATATATATATATA	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr2	TogoVar
LTBP1_chr2_32941953_33404509	33190785	G G	GACAGCAT others(11): Show GACAGCATCGATCCCACAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0007 a0001c0012t0007	a0001c0012t0007g0067 a0001c0012t0007g0067	1	164	0.0061	18	c.170 others(37): Show c.1701+1938_1701+1955dupGCATCGATCCCACAAACA	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr2	TogoVar
LTBP1_chr2_32941953_33404509	33202022	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01978.hp2 HG00741.hp1 HG01978.hp2	a0001 a0001	a0001c0005 a0001c0010 a0001c0005 a0001c0010	a0001c0005t0002 a0001c0010t0001 a0001c0005t0002 a0001c0010t0001	a0001c0005t0002g0033 a0001c0010t0001g0112 a0001c0005t0002g0033 a0001c0010t0001g0112	2	164	0.0122	18	c.170 others(39): Show c.1701+13193_1701+13210dupCACACACACACACACACA	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr2	TogoVar
LTBP1_chr2_32941953_33404509	33228697	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp2 HG01123.hp2 others(11): Show HG00280.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01243.hp2 HG01261.hp2 HG01928.hp1 HG02109.hp1 HG02258.hp2 HG03239.hp1 HG04204.hp2 NA19063.hp1 NA19240.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0006 a0001c0007 others(4): Show a0001c0003 a0001c0006 a0001c0007 a0001c0011 a0001c0025 a0001c0032 a0003c0021	a0001c0003t0001 a0001c0003t0005 a0001c0003t0023 others(9): Show a0001c0003t0001 a0001c0003t0005 a0001c0003t0023 a0001c0003t0027 a0001c0006t0001 a0001c0007t0005 a0001c0007t0006 a0001c0011t0001 a0001c0011t0002 a0001c0025t0002 a0001c0032t0002 a0003c0021t0002	a0001c0003t0001g0083 a0001c0003t0001g0096 a0001c0003t0005g0153 others(11): Show a0001c0003t0001g0083 a0001c0003t0001g0096 a0001c0003t0005g0153 a0001c0003t0023g0044 a0001c0003t0027g0087 a0001c0006t0001g0155 a0001c0007t0005g0136 a0001c0007t0006g0161 a0001c0011t0001g0019 a0001c0011t0001g0031 a0001c0011t0002g0034 a0001c0025t0002g0027 a0001c0032t0002g0111 a0003c0021t0002g0101	14	164	0.0854	18	c.187 others(37): Show c.1876+6550_1876+6567dupTTTTTTTTTTTTTTTTTT	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	9/33		INFO_REALIGN_3_PRIME	chr2	TogoVar
LTBP1_chr2_32941953_33404509	33249323	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0124 a0001c0002t0003g0124	1	164	0.0061	18	c.200 others(37): Show c.2000-3327_2000-3310dupCACACACACACACACACA	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	10/33		INFO_REALIGN_3_PRIME	chr2	TogoVar
LTBP1_chr2_32941953_33404509	33341729	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0010 a0001c0048t0010	a0001c0048t0010g0092 a0001c0048t0010g0092	1	164	0.0061	18	c.373 others(37): Show c.3731-1108_3731-1107insAAAATATATATATATATA	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	24/33		INFO_REALIGN_3_PRIME	chr2	TogoVar
LTBP1_chr2_32941953_33404509	33341729	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0002 a0003c0021t0002	a0003c0021t0002g0101 a0003c0021t0002g0101	1	164	0.0061	18	c.373 others(37): Show c.3731-1093_3731-1092insATATATATATATATATAT	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	24/33		INFO_REALIGN_3_PRIME	chr2	TogoVar
LTBP1_chr2_32941953_33404509	33400189	A A	ACCCCCCC others(11): Show ACCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0031 a0001c0011t0001g0031	1	164	0.0061	18	c.16 others(29): Show c.1644_*1645insCCCCCCCCCCCCCCCCCC	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding		681		chr2	TogoVar
LTBP1_chr2_32941953_33404509	33400898	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG03942.hp1 HG01884.hp2 HG03942.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0037 a0001c0001 a0008c0037	a0001c0001t0020 a0008c0037t0005 a0001c0001t0020 a0008c0037t0005	a0001c0001t0020g0113 a0008c0037t0005g0116 a0001c0001t0020g0113 a0008c0037t0005g0116	2	164	0.0122	18	c.23 others(29): Show c.2353_*2354insAAAAAAAAAAAAAAAAAA	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding		1390		chr2	TogoVar
LTBP2_chr14_74493183_74617237	74553923	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0005 a0001c0037t0005	a0001c0037t0005g0047 a0001c0037t0005g0047	1	282	0.0036	18	c.102 others(35): Show c.1022-879_1022-862dupACACACACACACACACAC	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	4/35			chr14	TogoVar
LTBP2_chr14_74493183_74617237	74564089	A A	ATATATAT others(11): Show ATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	282	0.0036	18	c.831 others(35): Show c.831-8397_831-8396insAATATATATAAATATATA	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
LTBP3_chr11_65533559_65563359	65540703	C C	CGGGCGGG others(11): Show CGGGCGGGGCCTACAGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp2 others(135): Show HG00099.hp1 HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00733.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01175.hp2 HG01243.hp2 HG01358.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02129.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18939.hp2 NA18940.hp2 NA18945.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18972.hp2 NA18975.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18985.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0013	a0001c0001 a0001c0003 a0001c0011 others(13): Show a0001c0001 a0001c0003 a0001c0011 a0001c0022 a0002c0002 a0003c0004 a0003c0010 a0003c0017 a0003c0018 a0005c0006 a0006c0009 a0006c0016 a0007c0013 a0008c0012 a0009c0024 a0013c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 a0001c0011t0002 a0001c0022t0002 a0002c0002t0001 a0003c0004t0001 a0003c0010t0001 a0003c0017t0001 a0003c0018t0001 a0005c0006t0002 a0006c0009t0001 a0006c0016t0001 a0007c0013t0001 a0008c0012t0001 a0009c0024t0007 a0013c0014t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 others(102): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0153 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0208 a0001c0001t0002g0109 a0001c0001t0002g0136 a0001c0001t0004g0044 a0001c0001t0005g0045 a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0038 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0210 a0001c0003t0001g0218 a0001c0003t0001g0220 a0001c0011t0002g0011 a0001c0011t0002g0121 a0001c0022t0002g0122 a0002c0002t0001g0006 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0064 a0003c0004t0001g0076 a0003c0004t0001g0077 a0003c0004t0001g0078 a0003c0004t0001g0094 a0003c0010t0001g0192 a0003c0010t0001g0193 a0003c0010t0001g0194 a0003c0010t0001g0195 a0003c0017t0001g0095 a0003c0018t0001g0093 a0005c0006t0002g0223 a0005c0006t0002g0224 a0005c0006t0002g0225 a0005c0006t0002g0226 a0005c0006t0002g0227 a0006c0009t0001g0065 a0006c0009t0001g0067 a0006c0016t0001g0066 a0007c0013t0001g0090 a0007c0013t0001g0091 a0008c0012t0001g0046 a0008c0012t0001g0058 a0009c0024t0007g0202 a0013c0014t0001g0047	138	316	0.4367	18	c.297 others(34): Show c.2978-107_2978-90dupCTCCTGTAGGCCCCGCCC	LTBP3	ENSG00000168056.18	transcript	ENST00000301873.11	protein_coding	21/27			chr11	TogoVar
LTBP4_chr19_40596369_40634818	40625286	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19085.hp2 NA18945.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0108 a0001c0001t0001g0110	2	338	0.0059	18	c.383 others(35): Show c.3833-554_3833-553insTTATATATATATATATAT	LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr19	TogoVar
LTBP4_chr19_40596369_40634818	40625290	A A	ATATAAAT others(11): Show ATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0212 a0001c0020t0001g0212	1	338	0.0030	18	c.383 others(35): Show c.3833-563_3833-562insAATATATATATATTTATA	LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr19	TogoVar
LTBP4_chr19_40596369_40634818	40625292	A A	ATATAAAT others(11): Show ATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0099 a0002c0010t0001g0099	1	338	0.0030	18	c.383 others(35): Show c.3833-561_3833-560insAATATATATATATTTATA	LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr19	TogoVar
LTBP4_chr19_40596369_40634818	40625316	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	338	0.0030	18	c.383 others(35): Show c.3833-540_3833-539insATATATATATATATTTTT	LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr19	TogoVar
LTBP4_chr19_40596369_40634818	40625326	T T	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG02258.hp2 HG02486.hp2	a0003 a0008 a0003 a0008	a0003c0003 a0008c0015 a0003c0003 a0008c0015	a0003c0003t0001 a0008c0015t0001 a0003c0003t0001 a0008c0015t0001	a0003c0003t0001g0103 a0008c0015t0001g0319 a0003c0003t0001g0103 a0008c0015t0001g0319	2	338	0.0059	18	c.383 others(35): Show c.3833-530_3833-529insTTTTTTTTTTTTTTTTGT	LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr19	TogoVar
LTBP4_chr19_40596369_40634818	40630113	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0006 a0006	a0006c0029 a0006c0029	a0006c0029t0001 a0006c0029t0001	a0006c0029t0001g0318 a0006c0029t0001g0318	1	338	0.0030	18	c.56 others(27): Show c.563_*564insTTTTTTTTTTTTTTTTTT	LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding		296		chr19	TogoVar
LTBP4_chr19_40596369_40634818	40633816	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 NA19006.hp1 HG01346.hp1 NA19006.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0002 a0002c0008t0002 a0002c0002t0002 a0002c0008t0002	a0002c0002t0002g0073 a0002c0008t0002g0321 a0002c0002t0002g0073 a0002c0008t0002g0321	2	338	0.0059	18	c.42 others(29): Show c.4266_*4267insAAAGAAAGAAAGAAAGAA	LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding		3999		chr19	TogoVar
LTBP4_chr19_40596369_40634818	40634799	G G	GCATCATC others(11): Show GCATCATCATCATCATCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02922.hp1 HG02280.hp1 HG02922.hp1	a0002 a0013 a0002 a0013	a0002c0002 a0013c0022 a0002c0002 a0013c0022	a0002c0002t0001 a0013c0022t0002 a0002c0002t0001 a0013c0022t0002	a0002c0002t0001g0294 a0013c0022t0002g0144 a0002c0002t0001g0294 a0013c0022t0002g0144	2	338	0.0059	18	c.52 others(29): Show c.5249_*5250insCATCATCATCATCATCAT	LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding		4982		chr19	TogoVar
LTF_chr3_46430645_46469905	46451137	G G	GAAGGGGA others(11): Show GAAGGGGAAGAATGGTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0095 a0003c0004t0002g0095	1	428	0.0023	18	c.704 others(33): Show c.704-482_704-465dupAAAACCATTCTTCCCCTT	LTF	ENSG00000012223.13	transcript	ENST00000231751.9	protein_coding	6/16			chr3	TogoVar
LTN1_chr21_28923144_28997877	28927475	T T	TTATATAT others(11): Show TTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0010 a0005c0006t0001g0010	1	404	0.0025	18	c.29 others(29): Show c.2972_*2973insTATATATATATATATATA	LTN1	ENSG00000198862.14	transcript	ENST00000361371.10	protein_coding		668		chr21	TogoVar
LTN1_chr21_28923144_28997877	28927501	A A	ATATATAT others(11): Show ATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0005 a0003c0003t0001g0005	1	404	0.0025	18	c.29 others(29): Show c.2946_*2947insAATATATATATATATATA	LTN1	ENSG00000198862.14	transcript	ENST00000361371.10	protein_coding		642		chr21	TogoVar
LTN1_chr21_28923144_28997877	28927501	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0263 a0001c0004t0001g0263	1	404	0.0025	18	c.29 others(29): Show c.2946_*2947insAAAAAATATATATATATA	LTN1	ENSG00000198862.14	transcript	ENST00000361371.10	protein_coding		642		chr21	TogoVar
LUC7L2_chr7_139354894_139428454	139399449	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	276	0.0036	18	c.255 others(33): Show c.255+773_255+790dupTTTTTTTTTTTTTTTTTT	LUC7L2	ENSG00000146963.18	transcript	ENST00000354926.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
LUC7L3_chr17_50714603_50761219	50724611	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0058 a0001c0001t0047g0058	1	392	0.0026	18	c.99+ others(33): Show c.99+4798_99+4815dupGTGTGTGTGTGTGTGTGT	LUC7L3	ENSG00000108848.16	transcript	ENST00000505658.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
LUC7L3_chr17_50714603_50761219	50730513	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02976.hp2 NA20905.hp2 HG00280.hp2 HG02976.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0016 a0001c0001t0038 a0001c0001t0008 a0001c0001t0016 a0001c0001t0038	a0001c0001t0008g0037 a0001c0001t0016g0213 a0001c0001t0038g0166 a0001c0001t0008g0037 a0001c0001t0016g0213 a0001c0001t0038g0166	3	392	0.0077	18	c.100 others(35): Show c.100-6439_100-6422dupAAAAAAAAAAAAAAAAAA	LUC7L3	ENSG00000108848.16	transcript	ENST00000505658.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
LUC7L_chr16_183990_234449	186221	G G	GGGAACAG others(11): Show GGGAACAGCGACACGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	350	0.0029	18	c.29 others(29): Show c.2976_*2977insTCCCCGTGTCGCTGTTCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2768		chr16	TogoVar
LUC7L_chr16_183990_234449	186272	G G	GGGAACAG others(11): Show GGGAACAGCGACACGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	350	0.0029	18	c.29 others(29): Show c.2925_*2926insTCCCCGTGTCGCTGTTCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2717		chr16	TogoVar

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