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
LNP1_chr3_100396539_100461319	100456920	G G	GAGAGGGA others(13): Show GAGAGGGAGAGAGAGAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0203 a0001c0004t0004g0203	1	398	0.0025	20	c.99 others(29): Show c.994_*995insAGAGGGAGAGAGAGAGAGAA	LNP1	ENSG00000206535.8	transcript	ENST00000383693.8	protein_coding		602		chr3	TogoVar
LNPK_chr2_175918882_176007267	175951584	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02622.hp2 HG02896.hp1 others(1): Show HG01975.hp2 HG02622.hp2 HG02896.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0025 a0001c0001t0066 others(1): Show a0001c0001t0010 a0001c0001t0025 a0001c0001t0066 a0001c0001t0088	a0001c0001t0010g0155 a0001c0001t0025g0091 a0001c0001t0066g0115 others(1): Show a0001c0001t0010g0155 a0001c0001t0025g0091 a0001c0001t0066g0115 a0001c0001t0088g0352	4	368	0.0109	20	c.494 others(37): Show c.494-3912_494-3893dupATATATATATATATATATAT	LNPK	ENSG00000144320.14	transcript	ENST00000272748.9	protein_coding	8/12			chr2	TogoVar
LNPK_chr2_175918882_176007267	175951605	A A	ATATATAT others(13): Show ATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0188 a0001c0001t0071g0188	1	368	0.0027	20	c.494 others(37): Show c.494-3914_494-3913insGATATATATATATATATATA	LNPK	ENSG00000144320.14	transcript	ENST00000272748.9	protein_coding	8/12			chr2	TogoVar
LNX1_chr4_53454301_53596486	53492506	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00673.hp1 HG00738.hp1 others(10): Show HG00140.hp2 HG00673.hp1 HG00738.hp1 HG01167.hp1 HG01175.hp1 HG01255.hp1 HG01258.hp1 HG01516.hp2 HG01517.hp2 HG02622.hp1 HG02723.hp2 HG03225.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0018	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0049 others(10): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0159 a0001c0001t0001g0266 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0004g0149 a0001c0001t0004g0289 a0001c0001t0007g0161 a0001c0001t0007g0166 a0001c0001t0013g0350 a0001c0001t0018g0287	13	356	0.0365	20	c.135 others(39): Show c.1350+3497_1350+3516dupTCTCTCTCTCTCTCTCTCTC	LNX1	ENSG00000072201.14	transcript	ENST00000263925.8	protein_coding	6/10			chr4	TogoVar
LNX1_chr4_53454301_53596486	53506856	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02809.hp2 HG02965.hp1 others(2): Show HG01070.hp1 HG02809.hp2 HG02965.hp1 NA18612.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0139 a0001c0001t0001g0262 a0001c0001t0002g0072 others(2): Show a0001c0001t0001g0139 a0001c0001t0001g0262 a0001c0001t0002g0072 a0001c0001t0002g0342 a0001c0001t0002g0343	5	356	0.0140	20	c.775 others(35): Show c.775+460_775+461insTTTTTTTTTTTTTTTTTTTT	LNX1	ENSG00000072201.14	transcript	ENST00000263925.8	protein_coding	4/10			chr4	TogoVar
LNX1_chr4_53454301_53596486	53529102	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG01109.hp2 others(15): Show HG00140.hp2 HG00323.hp1 HG01109.hp2 HG01346.hp1 HG01978.hp1 HG02004.hp2 HG02280.hp1 HG02723.hp1 HG03041.hp1 HG03130.hp1 NA18943.hp2 NA18948.hp2 NA18970.hp2 NA18995.hp2 NA19057.hp2 NA19066.hp1 NA19066.hp2 NA19085.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0015 a0001c0001 a0013c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0013c0015t0002	a0001c0001t0001g0115 a0001c0001t0001g0181 a0001c0001t0001g0184 others(15): Show a0001c0001t0001g0115 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0002g0183 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0003g0082 a0001c0001t0003g0114 a0001c0001t0003g0180 a0001c0001t0003g0210 a0001c0001t0003g0336 a0001c0001t0004g0141 a0001c0001t0004g0206 a0001c0001t0004g0268 a0001c0001t0005g0144 a0001c0001t0007g0161 a0013c0015t0002g0335	18	356	0.0506	20	c.381 others(39): Show c.381-20895_381-20876dupGTGTGTGTGTGTGTGTGTGT	LNX1	ENSG00000072201.14	transcript	ENST00000263925.8	protein_coding	2/10			chr4	TogoVar
LNX2_chr13_27540913_27625529	27560565	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0019 a0001c0001t0012g0019	1	358	0.0028	20	c.122 others(37): Show c.1225-600_1225-581dupTATATATATATATATATATA	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	5/9			chr13	TogoVar
LNX2_chr13_27540913_27625529	27560565	G G	GTGTGTAT others(13): Show GTGTGTATGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03579.hp1 HG03669.hp1 HG02559.hp1 HG03579.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0290 a0001c0001t0015g0049 a0001c0001t0015g0051 a0001c0001t0003g0290 a0001c0001t0015g0049 a0001c0001t0015g0051	3	358	0.0084	20	c.122 others(37): Show c.1225-581_1225-580insTATATATATACACATACACA	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	5/9			chr13	TogoVar
LNX2_chr13_27540913_27625529	27583255	T T	TGCGCGCG others(13): Show TGCGCGCGCGCGCGCGCGTGC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	358	0.0028	20	c.-10 others(39): Show c.-100-1453_-100-1452insGCACGCGCGCGCGCGCGCGC	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	1/9			chr13	TogoVar
LNX2_chr13_27540913_27625529	27583255	T T	TGTGCGCG others(13): Show TGTGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0188 a0002c0002t0001g0188	1	358	0.0028	20	c.-10 others(39): Show c.-100-1453_-100-1452insGCGCGCGCGCGCGCGCGCAC	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	1/9			chr13	TogoVar
LNX2_chr13_27540913_27625529	27583255	T T	TGTGTGCG others(13): Show TGTGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0141 a0002c0002t0006g0141	1	358	0.0028	20	c.-10 others(39): Show c.-100-1453_-100-1452insGCGCGCGCGCGCGCGCACAC	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	1/9			chr13	TogoVar
LNX2_chr13_27540913_27625529	27583255	T T	TGTGTGTG others(13): Show TGTGTGTGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	358	0.0028	20	c.-10 others(39): Show c.-100-1453_-100-1452insGCGCGCGCGCGCGCACACAC	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	1/9			chr13	TogoVar
LNX2_chr13_27540913_27625529	27608797	T T	TTTTTGTT others(13): Show TTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01167.hp1 others(21): Show HG00642.hp1 HG00735.hp2 HG01167.hp1 HG01175.hp1 HG01243.hp2 HG01884.hp1 HG01891.hp1 HG01978.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03579.hp1 HG03669.hp2 NA18953.hp1 NA19011.hp1 NA19074.hp2 NA19240.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 others(7): Show a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0002t0022 a0003c0004t0007	a0001c0001t0012g0019 a0001c0001t0012g0020 a0001c0001t0012g0021 others(21): Show a0001c0001t0012g0019 a0001c0001t0012g0020 a0001c0001t0012g0021 a0001c0001t0015g0049 a0001c0001t0015g0051 a0001c0001t0018g0337 a0001c0001t0018g0338 a0001c0001t0020g0344 a0001c0001t0020g0345 a0001c0001t0023g0050 a0002c0002t0002g0245 a0002c0002t0004g0054 a0002c0002t0004g0159 a0002c0002t0004g0160 a0002c0002t0007g0010 a0002c0002t0007g0012 a0002c0002t0007g0013 a0002c0002t0007g0014 a0002c0002t0007g0016 a0002c0002t0007g0017 a0002c0002t0007g0018 a0002c0002t0022g0009 a0003c0004t0007g0011 a0003c0004t0007g0015	24	358	0.0670	20	c.-10 others(41): Show c.-101+11558_-101+11577dupCAAAACAAAACAAAACAAAA	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	1/9			chr13	TogoVar
LOC101059948_chr19_49012968_49025549	49017571	A A	AAGCCACT others(13): Show AAGCCACTTGACCCAGATGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	402	0.0025	20	c.39 others(29): Show c.396_*397insGGCATCTGGGTCAAGTGGCT	LOC101059948	ENSG00000268655.3	transcript	ENST00000637680.2	protein_coding		396		chr19	TogoVar
LOC102725191_chr7_12499441_12546270	12503233	T T	TAATAAAT others(13): Show TAATAAATAAATAAATAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00733.hp2 others(9): Show HG00280.hp2 HG00323.hp2 HG00733.hp2 HG00738.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01255.hp1 HG02976.hp1 HG03491.hp1 HG03654.hp2 HG04115.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0337 a0003c0003t0002g0045 a0003c0003t0002g0046 others(7): Show a0003c0003t0001g0337 a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0330 a0003c0003t0002g0331 a0003c0003t0002g0332 a0003c0003t0002g0333 a0003c0003t0002g0334 a0003c0003t0002g0335 a0003c0003t0002g0336	12	422	0.0284	20	c.-13 others(31): Show c.-1311_-1310insAATAAATAAATAAATAAATA	LOC102725191	ENSG00000226690.9	transcript	ENST00000636804.2	protein_coding		1207		chr7	TogoVar
LOC102725191_chr7_12499441_12546270	12534977	G G	GGGAAGGA others(13): Show GGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00741.hp1 HG03490.hp2 others(11): Show HG00423.hp1 HG00741.hp1 HG03490.hp2 HG04199.hp2 NA18959.hp1 NA18968.hp1 NA18983.hp1 NA18994.hp2 NA18999.hp2 NA19001.hp1 NA19055.hp2 NA19068.hp1 NA19091.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001	a0001c0001t0001g0203 a0001c0001t0001g0222 a0002c0002t0001g0130 others(9): Show a0001c0001t0001g0203 a0001c0001t0001g0222 a0002c0002t0001g0130 a0002c0002t0001g0202 a0002c0002t0001g0250 a0003c0003t0001g0323 a0004c0004t0001g0016 a0004c0004t0001g0019 a0004c0004t0001g0064 a0004c0004t0001g0065 a0004c0004t0001g0077 a0004c0004t0001g0087	14	422	0.0332	20	c.767 others(37): Show c.767+3910_767+3929dupGGAAGGAAGGAAGGAAGGAA	LOC102725191	ENSG00000226690.9	transcript	ENST00000636804.2	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
LOC122539214_chr19_52645447_52695496	52687385	A A	ATAGCTAT others(13): Show ATAGCTATATAAATTATAATT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0013 a0003c0003t0002 a0003c0003t0013	a0003c0003t0002g0431 a0003c0003t0013g0430 a0003c0003t0002g0431 a0003c0003t0013g0430	2	452	0.0044	20	c.-20 others(37): Show c.-20+3057_-20+3058insAATTATAATTTATATAGCTA	LOC122539214	ENSG00000269825.3	transcript	ENST00000598322.3	protein_coding	1/3			chr19	TogoVar
LOC128092252_chr15_50643802_50691717	50679538	A A	ATATATAT others(13): Show ATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0367 a0001c0001t0000g0367	1	388	0.0026	20	c.187 others(37): Show c.187+6992_187+6993insAAAAAAAAAAAAAATATATA	LOC128092252	ENSG00000288645.1	transcript	ENST00000676296.1	protein_coding	1/3			chr15	TogoVar
LOC128092252_chr15_50643802_50691717	50681264	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03098.hp2 HG03453.hp1 others(1): Show HG02896.hp2 HG03098.hp2 HG03453.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0023 a0001c0001t0000g0191 a0001c0001t0000g0364 others(1): Show a0001c0001t0000g0023 a0001c0001t0000g0191 a0001c0001t0000g0364 a0001c0001t0000g0365	4	388	0.0103	20	c.187 others(37): Show c.187+5247_187+5266dupGTGTGTGTGTGTGTGTGTGT	LOC128092252	ENSG00000288645.1	transcript	ENST00000676296.1	protein_coding	1/3			chr15	TogoVar
LOC128462377_chr16_89312046_89423292	89323399	C C	CAGCCCAG others(13): Show CAGCCCAGGGCAGGGGGGCTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0040 a0001c0001t0000g0040	1	366	0.0027	20	c.10- others(35): Show c.10-6344_10-6325dupCAGCCCCCCTGCCCTGGGCT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89323404	C C	CAGGGCAG others(13): Show CAGGGCAGGGGGGCTGAGCCG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03927.hp2 NA18995.hp2 HG00621.hp1 HG03927.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0341 a0001c0001t0000g0351 a0001c0001t0000g0358 a0001c0001t0000g0341 a0001c0001t0000g0351 a0001c0001t0000g0358	3	366	0.0082	20	c.10- others(35): Show c.10-6349_10-6330dupCGGCTCAGCCCCCCTGCCCT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89323424	G G	GAGGGCAG others(13): Show GAGGGCAGGGGGGCAGAGCCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0023 a0001c0001t0000g0023	1	366	0.0027	20	c.10- others(35): Show c.10-6350_10-6349insGGGCTCTGCCCCCCTGCCCT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89323438	T T	TGAGCCGA others(13): Show TGAGCCGAGGGCAGGGGGGCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0040 a0001c0001t0000g0040	1	366	0.0027	20	c.10- others(35): Show c.10-6383_10-6364dupTGCCCCCCTGCCCTCGGCTC	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89323484	C C	CAGGGCAG others(13): Show CAGGGCAGGGGGGCTGAGCCG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG02809.hp2 HG02109.hp1 HG02572.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0009 a0001c0001t0000g0011 a0001c0001t0000g0012 a0001c0001t0000g0009 a0001c0001t0000g0011 a0001c0001t0000g0012	3	366	0.0082	20	c.10- others(35): Show c.10-6410_10-6409insCGGCTCAGCCCCCCTGCCCT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89323504	C C	CAGGGCAG others(13): Show CAGGGCAGGGGGGCTGAGCCG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0047 a0001c0001t0000g0047	1	366	0.0027	20	c.10- others(35): Show c.10-6449_10-6430dupCGGCTCAGCCCCCCTGCCCT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89323524	G G	GAGGGCAG others(13): Show GAGGGCAGGGGGGCAGAGCCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03139.hp1 NA19043.hp1 HG02257.hp2 HG03139.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0069 a0001c0001t0000g0085 a0001c0001t0000g0225 a0001c0001t0000g0069 a0001c0001t0000g0085 a0001c0001t0000g0225	3	366	0.0082	20	c.10- others(35): Show c.10-6450_10-6449insGGGCTCTGCCCCCCTGCCCT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89323524	G G	GAGGGCAG others(13): Show GAGGGCAGGGGGGCTGAGCCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03130.hp1 HG03209.hp1 HG02615.hp1 HG03130.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0239 a0001c0001t0000g0347 a0001c0001t0000g0348 a0001c0001t0000g0239 a0001c0001t0000g0347 a0001c0001t0000g0348	3	366	0.0082	20	c.10- others(35): Show c.10-6450_10-6449insGGGCTCAGCCCCCCTGCCCT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89323544	G G	GAGGGCAG others(13): Show GAGGGCAGGGGGGCAGAGCCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA19080.hp1 HG00597.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0055 a0001c0001t0000g0111 a0001c0001t0000g0055 a0001c0001t0000g0111	2	366	0.0055	20	c.10- others(35): Show c.10-6470_10-6469insGGGCTCTGCCCCCCTGCCCT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89323584	C C	CAGGGCAG others(13): Show CAGGGCAGGGGGACTGAGCCG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0175 a0001c0001t0000g0175	1	366	0.0027	20	c.10- others(35): Show c.10-6510_10-6509insCGGCTCAGTCCCCCTGCCCT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89329995	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0054 a0001c0001t0000g0054	1	366	0.0027	20	c.10- others(37): Show c.10-12940_10-12921dupATTTTATTTTATTTTATTTT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89384879	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01928.hp2 HG01952.hp1 others(3): Show HG00621.hp1 HG01928.hp2 HG01952.hp1 HG02895.hp2 NA18964.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0256 a0001c0001t0000g0268 a0001c0001t0000g0270 others(3): Show a0001c0001t0000g0256 a0001c0001t0000g0268 a0001c0001t0000g0270 a0001c0001t0000g0286 a0001c0001t0000g0345 a0001c0001t0000g0358	6	366	0.0164	20	c.9+3 others(35): Show c.9+33385_9+33404dupAAAAAAAAAAAAAAAAAAAA	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89409829	A A	AATTTATT others(13): Show AATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG02809.hp2 HG02109.hp1 HG02572.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0009 a0001c0001t0000g0011 a0001c0001t0000g0012 a0001c0001t0000g0009 a0001c0001t0000g0011 a0001c0001t0000g0012	3	366	0.0082	20	c.9+8 others(33): Show c.9+8435_9+8454dupAAATAAATAAATAAATAAAT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89415829	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG01081.hp1 others(23): Show HG00423.hp2 HG00609.hp2 HG01081.hp1 HG01168.hp1 HG02056.hp1 HG02135.hp2 HG02698.hp1 HG02976.hp2 HG03017.hp1 HG03139.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp1 NA18939.hp1 NA18942.hp2 NA18953.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18991.hp1 NA18995.hp1 NA19007.hp2 NA19080.hp1 NA19084.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0026 a0001c0001t0000g0102 a0001c0001t0000g0103 others(23): Show a0001c0001t0000g0026 a0001c0001t0000g0102 a0001c0001t0000g0103 a0001c0001t0000g0104 a0001c0001t0000g0105 a0001c0001t0000g0106 a0001c0001t0000g0107 a0001c0001t0000g0108 a0001c0001t0000g0109 a0001c0001t0000g0110 a0001c0001t0000g0111 a0001c0001t0000g0112 a0001c0001t0000g0113 a0001c0001t0000g0114 a0001c0001t0000g0115 a0001c0001t0000g0116 a0001c0001t0000g0117 a0001c0001t0000g0118 a0001c0001t0000g0119 a0001c0001t0000g0120 a0001c0001t0000g0121 a0001c0001t0000g0122 a0001c0001t0000g0123 a0001c0001t0000g0124 a0001c0001t0000g0125 a0001c0001t0000g0356	26	366	0.0710	20	c.9+2 others(33): Show c.9+2435_9+2454dupTTTTTTTTTTTTTTTTTTTT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128706665_chr20_10408708_10439222	10427029	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp1 HG00642.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0192 a0001c0001t0001g0193	2	408	0.0049	20	c.-21 others(37): Show c.-21-6291_-21-6272dupGTGTGTGTGTGTGTGTGTGT	LOC128706665	ENSG00000285723.2	transcript	ENST00000649912.2	protein_coding	1/2			chr20	TogoVar
LOC128706665_chr20_10408708_10439222	10427029	G G	GACACACA others(13): Show GACACACACACAGACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02559.hp2 NA19240.hp1 HG01255.hp2 HG02559.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0223 a0001c0001t0001g0244 a0001c0001t0001g0245	3	408	0.0074	20	c.-21 others(37): Show c.-21-6272_-21-6271insGTGTGTGTCTGTGTGTGTGT	LOC128706665	ENSG00000285723.2	transcript	ENST00000649912.2	protein_coding	1/2			chr20	TogoVar
LOC128706666_chr20_10408708_10439222	10427029	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp1 HG00642.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0192 a0001c0001t0001g0193	2	408	0.0049	20	c.-27 others(39): Show c.-275-6291_-275-6272dupGTGTGTGTGTGTGTGTGTGT	LOC128706666	ENSG00000285508.2	transcript	ENST00000713549.1	protein_coding	1/2			chr20	TogoVar
LOC128706666_chr20_10408708_10439222	10427029	G G	GACACACA others(13): Show GACACACACACAGACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02559.hp2 NA19240.hp1 HG01255.hp2 HG02559.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0223 a0001c0001t0001g0244 a0001c0001t0001g0245	3	408	0.0074	20	c.-27 others(39): Show c.-275-6272_-275-6271insGTGTGTGTCTGTGTGTGTGT	LOC128706666	ENSG00000285508.2	transcript	ENST00000713549.1	protein_coding	1/2			chr20	TogoVar
LOC400499_chr16_11367015_11532247	11369976	G G	GTATATAT others(13): Show GTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00741.hp1 HG01192.hp2 others(1): Show HG00323.hp1 HG00741.hp1 HG01192.hp2 HG02965.hp2	a0008 a0034 a0072 others(1): Show a0008 a0034 a0072 a0146	a0008c0027 a0034c0028 a0072c0063 others(1): Show a0008c0027 a0034c0028 a0072c0063 a0146c0099	a0008c0027t0001 a0034c0028t0002 a0072c0063t0002 others(1): Show a0008c0027t0001 a0034c0028t0002 a0072c0063t0002 a0146c0099t0001	a0008c0027t0001g0132 a0034c0028t0002g0043 a0072c0063t0002g0074 others(1): Show a0008c0027t0001g0132 a0034c0028t0002g0043 a0072c0063t0002g0074 a0146c0099t0001g0242	4	310	0.0129	20	c.27 others(31): Show c.2757_*2758insTATATATATATATATATATA	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding		2038		chr16	TogoVar
LOC400499_chr16_11367015_11532247	11369980	A A	ATATATAT others(13): Show ATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0091 a0091	a0091c0058 a0091c0058	a0091c0058t0002 a0091c0058t0002	a0091c0058t0002g0291 a0091c0058t0002g0291	1	310	0.0032	20	c.27 others(31): Show c.2753_*2754insCATATATATATATATATATA	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding		2034		chr16	TogoVar
LOC400499_chr16_11367015_11532247	11473116	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03579.hp2 HG02109.hp2 HG03579.hp2	a0052 a0053 a0052 a0053	a0052c0074 a0053c0072 a0052c0074 a0053c0072	a0052c0074t0001 a0053c0072t0006 a0052c0074t0001 a0053c0072t0006	a0052c0074t0001g0035 a0053c0072t0006g0002 a0052c0074t0001g0035 a0053c0072t0006g0002	2	310	0.0065	20	c.282 others(39): Show c.2825-1319_2825-1300dupATTTATTTATTTATTTATTT	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	20/66			chr16	TogoVar
LOC400499_chr16_11367015_11532247	11487589	T T	TGACAGGC others(13): Show TGACAGGCAGAGAGGAGGTGC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0114 a0114	a0114c0162 a0114c0162	a0114c0162t0001 a0114c0162t0001	a0114c0162t0001g0215 a0114c0162t0001g0215	1	310	0.0032	20	c.188 others(37): Show c.1889-223_1889-204dupGCACCTCCTCTCTGCCTGTC	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	14/66			chr16	TogoVar
LOC400499_chr16_11367015_11532247	11491392	A A	AGAGCTAA others(13): Show AGAGCTAAAAGAGGCCTCACT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0244 a0002c0003t0001g0244	1	310	0.0032	20	c.172 others(37): Show c.1729+289_1729+308dupAGTGAGGCCTCTTTTAGCTC	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	13/66			chr16	TogoVar
LOC400499_chr16_11367015_11532247	11493824	A A	AGGGGCAG others(13): Show AGGGGCAGTGGCGTGGGGGGC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA19066.hp1 NA18984.hp2 NA19066.hp1	a0037 a0037	a0037c0030 a0037c0030	a0037c0030t0001 a0037c0030t0001	a0037c0030t0001g0153 a0037c0030t0001g0155 a0037c0030t0001g0153 a0037c0030t0001g0155	2	310	0.0065	20	c.143 others(35): Show c.1432-48_1432-29dupGCCCCCCACGCCACTGCCCC	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66			chr16	TogoVar
LONP1_chr19_5686834_5725146	5716259	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02717.hp1 HG03017.hp1 others(5): Show HG01952.hp2 HG02717.hp1 HG03017.hp1 HG03195.hp1 NA18940.hp2 NA19043.hp2 NA19066.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0272 others(5): Show a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0272 a0001c0001t0002g0035 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087	8	386	0.0207	20	c.430 others(37): Show c.430-2008_430-1989dupATATATATATATATATATAT	LONP1	ENSG00000196365.12	transcript	ENST00000360614.8	protein_coding	1/17			chr19	TogoVar
LONP2_chr16_48239300_48362349	48243993	G G	GAATAAAT others(13): Show GAATAAATAAATAAATAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02074.hp1 HG02083.hp2 others(3): Show HG02055.hp1 HG02074.hp1 HG02083.hp2 HG02486.hp2 HG02965.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0007 a0001c0001t0035 others(3): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0035 a0001c0001t0055 a0001c0001t0057 a0001c0003t0059	a0001c0001t0006g0139 a0001c0001t0007g0140 a0001c0001t0035g0127 others(3): Show a0001c0001t0006g0139 a0001c0001t0007g0140 a0001c0001t0035g0127 a0001c0001t0055g0144 a0001c0001t0057g0143 a0001c0003t0059g0121	6	154	0.0390	20	c.-39 others(29): Show c.-396_-395insAATAAATAAATAAATAAATA	LONP2	ENSG00000102910.14	transcript	ENST00000285737.9	protein_coding		306		chr16	TogoVar
LONRF1_chr8_12716906_12760526	12751296	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTGTTTGTTT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	404	0.0025	20	c.721 others(37): Show c.721+3403_721+3404insAAACAAACAAAAAAAAAAAA	LONRF1	ENSG00000154359.13	transcript	ENST00000398246.8	protein_coding	1/11			chr8	TogoVar
LORICRIN_chr1_153254687_153267124	153256514	T T	TTATATAT others(13): Show TTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG02970.hp1 HG03098.hp2 others(2): Show HG00609.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03486.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0009 a0001c0001 a0002c0002 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0006c0009t0001	a0001c0001t0001g0001 a0001c0001t0002g0001 a0002c0002t0001g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0001 a0002c0002t0001g0001 a0006c0009t0001g0005	5	422	0.0119	20	c.-32 others(31): Show c.-3243_-3242insTATATATATATATATATATA	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		3172		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256532	A A	ATATATAT others(13): Show ATATATATATATATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	20	c.-32 others(31): Show c.-3225_-3224insTATATATATATATATATATC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		3154		chr1	TogoVar
LOXHD1_chr18_46472273_46662220	46494845	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp2 HG03704.hp1 HG03704.hp2	a0003 a0040 a0003 a0040	a0003c0025 a0040c0073 a0003c0025 a0040c0073	a0003c0025t0001 a0040c0073t0001 a0003c0025t0001 a0040c0073t0001	a0003c0025t0001g0264 a0040c0073t0001g0104 a0003c0025t0001g0264 a0040c0073t0001g0104	2	270	0.0074	20	c.587 others(39): Show c.5879-5704_5879-5703insAAAAAAAAAAAAAAAAAAAA	LOXHD1	ENSG00000167210.17	transcript	ENST00000642948.1	protein_coding	37/40			chr18	TogoVar
LOXHD1_chr18_46472273_46662220	46545627	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02886.hp2 NA18522.hp1 HG02015.hp1 HG02886.hp2 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0193 a0003c0003t0001g0046 a0003c0003t0001g0067 a0001c0001t0001g0193 a0003c0003t0001g0046 a0003c0003t0001g0067	3	270	0.0111	20	c.351 others(37): Show c.3515-226_3515-207dupAAAAAAAAAAAAAAAAAAAA	LOXHD1	ENSG00000167210.17	transcript	ENST00000642948.1	protein_coding	22/40			chr18	TogoVar

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