Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
KLHDC4_chr16_87702812_87770986	87726561	G G	GCCGCGCC others(89): Show GCCGCGCCTCGCCCGTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACCC CGCGCCTCGCCCGTCTCCCCACCCCGCGCCTCGCCCGTCTCCCCACC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG02809.hp2 others(2): Show HG01884.hp1 HG02280.hp2 HG02809.hp2 HG02976.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0269 others(2): Show a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0271 a0002c0002t0001g0196	5	349	0.0143	96	c.759 others(111): Show c.759+203_759+204insGGTGGGGAGACGGGCGAGGCGCGGGGTGGG GAGACGGGCGAGGCGCGGGGTGGGGAGACGGGCGAGGCGCGGCGTGGGGA GACGGGCGAGGCGCGG		KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11						chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87726657	G G	GCCGCGCC others(89): Show GCCGCGCCTCGCCCGTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACCC CGCGCCTCGCCCGTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0019 a0019	a0019c0016 a0019c0016	a0019c0016t0001 a0019c0016t0001	a0019c0016t0001g0132 a0019c0016t0001g0132	1	53	0.0189	96	c.759 others(111): Show c.759+107_759+108insGGTGGGGAGACGGGCGAGGCGCGGCGTGGG GAGACGGGCGAGGCGCGGGGTGGGGAGACGGGCGAGGCGCGGCGTGGGGA GACGGGCGAGGCGCGG		KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11						chr16	TogoVar
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(89): Show GATATATATATATATATATATATACAAATTCCTTGTAAGGGAGGTACATA GCTTTATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0152	1	37	0.0270	96	c.180 others(115): Show c.1803-1482_1803-1481insATATATATATATATATATATATATAT ATATATATATATATATAAAGCTATGTACCTCCCTTACAAGGAATTTGTAT ATATATATATATATATATAT		KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10						chr13	TogoVar
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(89): Show GATATATATATATATATATATATATATATATACAAATTCCTTGTAAGGGA GGTACATAGCTTTATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0112 a0001c0002t0008g0112	1	37	0.0270	96	c.180 others(115): Show c.1803-1482_1803-1481insATATATATATATATATATATATATAT ATATATATAAAGCTATGTACCTCCCTTACAAGGAATTTGTATATATATAT ATATATATATATATATATAT		KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10						chr13	TogoVar
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(89): Show GATATATATATATATATATATATATATATATATACAAATTCCTTGTAAGG GAGGTACATAGCTTTATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0174 a0001c0002t0013g0174	1	37	0.0270	96	c.180 others(115): Show c.1803-1482_1803-1481insATATATATATATATATATATATATAT ATATATAAAGCTATGTACCTCCCTTACAAGGAATTTGTATATATATATAT ATATATATATATATATATAT		KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10						chr13	TogoVar
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(89): Show GATATATATATATATATATATATATATATATATATATATATATACAAATT CCTTGTAAGGGAGGTACATAGCTTTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	37	0.0270	96	c.180 others(115): Show c.1803-1482_1803-1481insATATATATATATATATATATATAAAG CTATGTACCTCCCTTACAAGGAATTTGTATATATATATATATATATATAT ATATATATATATATATATAT		KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10						chr13	TogoVar
KLHL1_chr13_69695597_70113452	69931029	T T	TTACTATC others(89): Show TTACTATCATATATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0172 a0001c0002t0022g0172	1	179	0.0056	96	c.101 others(115): Show c.1014+9010_1014+9011insTCGCGCCACTGCACTCCAGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAGAATATATGATAGTA		KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	4/10						chr13	TogoVar
KLHL23_chr2_169728832_169756878	169750060	G G	GTATGTGT others(89): Show GTATGTGTATATATACGTATGTATGTATACATATATGTGTATATATACGT ATGTATGTATACATATATGTGTATATATACGTATGTATGTATACATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG02135.hp2 others(13): Show HG00140.hp2 HG00609.hp1 HG02135.hp2 HG02698.hp1 HG04115.hp2 NA18747.hp2 NA18952.hp1 NA18970.hp1 NA18992.hp2 NA18995.hp2 NA19062.hp2 NA19066.hp2 NA19074.hp1 NA19078.hp2 NA19090.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0045 a0001c0001t0110 others(1): Show a0001c0001t0004 a0001c0001t0045 a0001c0001t0110 a0001c0001t0111	a0001c0001t0004g0015 a0001c0001t0004g0043 a0001c0001t0004g0045 others(12): Show a0001c0001t0004g0015 a0001c0001t0004g0043 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0052 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0045g0042 a0001c0001t0045g0132 a0001c0001t0110g0057 a0001c0001t0111g0041	16	58	0.2759	96	c.37 others(105): Show c.370_*371insTATACGTATGTATGTATACATATATGTGTATATATA CGTATGTATGTATACATATATGTGTATATATACGTATGTATGTATACATA TATGTGTATA		KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4				371	INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL23_chr2_169728832_169756878	169750060	G G	GTATGTGT others(89): Show GTATGTGTATATATACGTATGTATGTATACATGTATGTGTATATATACGT ATGTATGTATACATATATGTGTATATATACGTATGTATGTATACATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp1 HG02080.hp2 NA18947.hp1 others(1): Show HG00558.hp1 HG02080.hp2 NA18947.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0056 a0001c0001t0004g0116 others(1): Show a0001c0001t0004g0051 a0001c0001t0004g0056 a0001c0001t0004g0116 a0001c0001t0004g0117	4	46	0.0870	96	c.35 others(105): Show c.359_*360insGTATGTGTATATATACGTATGTATGTATACATATAT GTGTATATATACGTATGTATGTATACATATATGTGTATATATACGTATGT ATGTATACAT		KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4				360	INFO_REALIGN_3_PRIME	chr2	TogoVar
KNDC1_chr10_133155219_133231412	133220338	A A	AGAGGAGG others(89): Show AGAGGAGGGGCTCAGGCGGCCGCGCGCCCAGGTGAGGAGGGGCTCAGGCG GGCGCGCGCCCAGGAGAGGAGGGGCTCAGGCGGGCGCGCGCCCAGGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp1 HG02451.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0140 a0001c0001t0004g0157 a0001c0001t0004g0140 a0001c0001t0004g0157	2	196	0.0102	96	c.501 others(113): Show c.5018+244_5018+245insCCGCGCGCCCAGGTGAGGAGGGGCTCAG GCGGGCGCGCGCCCAGGAGAGGAGGGGCTCAGGCGGGCGCGCGCCCAGGT GAGGAGGGGCTCAGGCGG		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KRTAP10-10_chr21_44632356_44643455	44637915	T T	TTCATGCT others(89): Show TTCATGCTGCCAGCAGTCTAGCTGCCAGCCAGCTTGCTGCACCTCCTCCC CCTGCCAGCACGCCTGCTGTGTGCCCGTCTGCTCTGGGGCTTCCACA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02258.hp2 HG02258.hp2	a0021 a0021	a0021c0032 a0021c0032	a0021c0032t0005 a0021c0032t0005	a0021c0032t0005g0000 a0021c0032t0005g0000	1	434	0.0023	96	c.527 others(103): Show c.527_528insAGCTTGCTGCACCTCCTCCCCCTGCCAGCACGCCTGCT GTGTGCCCGTCTGCTCTGGGGCTTCCACATCATGCTGCCAGCAGTCTAGC TGCCAGCC	p.Pro others(109): Show p.Pro176_Ala177insAlaCysCysThrSerSerProCysGlnHisAl aCysCysValProValCysSerGlyAlaSerThrSerCysCysGlnGlnS erSerCysGlnPro	KRTAP10-10	ENSG00000221859.2	transcript	ENST00000380095.2	protein_coding	1/1	590/1100	528/756	176/251		INFO_REALIGN_3_PRIME	chr21	TogoVar
KRTAP21-2_chr21_30741794_30752259	30742222	C C	CAGCCAGA others(89): Show CAGCCAGAGCCACATCCACAGCCAGAGCCACATCCACAGCCAGAGCCATA TCCACAGCCATAGCCAGAGCCAGAGCCATATCCACAACCATAGCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	268	0.0037	96	c.47 others(107): Show c.4728_*4729insCTGGCTATGGTTGTGGATATGGCTCTGGCTCTGG CTATGGCTGTGGATATGGCTCTGGCTGTGGATGTGGCTCTGGCTGTGGAT GTGGCTCTGGCT		KRTAP21-2	ENSG00000187026.3	transcript	ENST00000333892.3	protein_coding					4571		chr21	TogoVar
LAMA2_chr6_128878138_129521566	128879483	A A	ATATATAT others(89): Show ATATATATATATATATATATATATATATATGCCATTATATATATATATAT ATGCCATTATATATATATATATATGCCATTATATATATATATGCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0020 a0020	a0020c0023 a0020c0023	a0020c0023t0002 a0020c0023t0002	a0020c0023t0002g0086 a0020c0023t0002g0086	1	86	0.0116	96	c.-37 others(107): Show c.-3763_-3762insTATATATATATATATATATATATATATATGCCAT TATATATATATATATATGCCATTATATATATATATATATGCCATTATATA TATATATGCCAT		LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding					3654		chr6	TogoVar
LAMA5_chr20_62304065_62372312	62321150	C C	CCAGTGAA others(89): Show CCAGTGAAGGGGCGGGGCCGGTGGAGGCAGGGTCAGTGAAGGGGTGGGGC CAGTGGAGGCAGGGTCAGTGAAGGGGCGGGGCCGGTGGAGGCAGGGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0069 a0069	a0069c0073 a0069c0073	a0069c0073t0001 a0069c0073t0001	a0069c0073t0001g0014 a0069c0073t0001g0014	1	184	0.0054	96	c.649 others(113): Show c.6497-261_6497-260insACCCTGCCTCCACCGGCCCCGCCCCTTC ACTGACCCTGCCTCCACTGGCCCCACCCCTTCACTGACCCTGCCTCCACC GGCCCCGCCCCTTCACTG		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79						chr20	TogoVar
LAMA5_chr20_62304065_62372312	62360614	A A	ATGGATAG others(89): Show ATGGATAGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGAG GAATAGATGGGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19043.hp1 HG02258.hp2 NA19043.hp1	a0023 a0023	a0023c0022 a0023c0022	a0023c0022t0001 a0023c0022t0001	a0023c0022t0001g0154 a0023c0022t0001g0155 a0023c0022t0001g0154 a0023c0022t0001g0155	2	121	0.0165	96	c.450 others(113): Show c.450+1785_450+1786insCCCACCCATCTATCCCTCCACCCACCCA TCCACCCACCCATCTATTCCTCCACCCACCCACCCATCTATCCCTCCACC CACCCATCCACCTATCCA		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79						chr20	TogoVar
LAMA5_chr20_62304065_62372312	62360614	A A	ATGGATAG others(89): Show ATGGATAGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGT GGAGGGATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG01358.hp1 others(4): Show HG00099.hp2 HG00642.hp1 HG01358.hp1 HG01515.hp1 HG02027.hp1 HG02129.hp2 HG03688.hp1	a0002 a0031 a0044 others(4): Show a0002 a0031 a0044 a0046 a0050 a0057 a0084	a0002c0013 a0031c0117 a0044c0120 others(4): Show a0002c0013 a0031c0117 a0044c0120 a0046c0116 a0050c0112 a0057c0113 a0084c0119	a0002c0013t0001 a0031c0117t0001 a0044c0120t0006 others(4): Show a0002c0013t0001 a0031c0117t0001 a0044c0120t0006 a0046c0116t0001 a0050c0112t0001 a0057c0113t0005 a0084c0119t0001	a0002c0013t0001g0075 a0031c0117t0001g0072 a0044c0120t0006g0074 others(4): Show a0002c0013t0001g0075 a0031c0117t0001g0072 a0044c0120t0006g0074 a0046c0116t0001g0079 a0050c0112t0001g0076 a0057c0113t0005g0077 a0084c0119t0001g0073	7	126	0.0556	96	c.450 others(113): Show c.450+1785_450+1786insCCCACCTATCCATCCACCCACCCACCCA CCCACCCATCTATCCCTCCACCCACCCACCCACCCATCTATCCCTCCACC CACCCATCCACCTATCCA		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79						chr20	TogoVar
LAMC1_chr1_183018420_183150592	183149568	T T	TCTCCTCC others(89): Show TCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACA CAGCCCACACCCCTCTCCTCACACACCAGACAGCTCACACCCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00558.hp1 others(71): Show HG00140.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01358.hp1 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03669.hp1 HG03704.hp1 HG03942.hp1 HG04115.hp1 NA18522.hp1 NA18945.hp1 NA18946.hp2 NA18950.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18977.hp2 NA18980.hp1 NA18983.hp2 NA18987.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19009.hp1 NA19030.hp1 NA19057.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19090.hp1 NA20129.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0019	a0001c0002 a0001c0003 a0001c0005 others(14): Show a0001c0002 a0001c0003 a0001c0005 a0001c0032 a0001c0034 a0001c0037 a0002c0001 a0002c0006 a0002c0009 a0002c0012 a0003c0004 a0004c0022 a0005c0010 a0006c0015 a0009c0033 a0010c0029 a0019c0038	a0001c0002t0002 a0001c0002t0016 a0001c0002t0019 others(20): Show a0001c0002t0002 a0001c0002t0016 a0001c0002t0019 a0001c0002t0020 a0001c0003t0002 a0001c0003t0003 a0001c0005t0002 a0001c0005t0004 a0001c0032t0002 a0001c0034t0002 a0001c0037t0002 a0002c0001t0001 a0002c0006t0002 a0002c0006t0018 a0002c0009t0001 a0002c0012t0001 a0003c0004t0026 a0004c0022t0002 a0005c0010t0002 a0006c0015t0002 a0009c0033t0002 a0010c0029t0002 a0019c0038t0002	a0001c0002t0002g0002 a0001c0002t0002g0010 a0001c0002t0002g0013 others(69): Show a0001c0002t0002g0002 a0001c0002t0002g0010 a0001c0002t0002g0013 a0001c0002t0002g0024 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0040 a0001c0002t0002g0042 a0001c0002t0002g0044 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0072 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0080 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0093 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0002g0111 a0001c0002t0016g0018 a0001c0002t0019g0102 a0001c0002t0020g0025 a0001c0003t0002g0007 a0001c0003t0002g0255 a0001c0003t0002g0256 a0001c0003t0003g0250 a0001c0005t0002g0087 a0001c0005t0004g0106 a0001c0032t0002g0009 a0001c0034t0002g0089 a0001c0037t0002g0022 a0002c0001t0001g0003 a0002c0001t0001g0117 a0002c0001t0001g0119 a0002c0001t0001g0120 a0002c0001t0001g0121 a0002c0001t0001g0123 a0002c0001t0001g0136 a0002c0001t0001g0137 a0002c0001t0001g0181 a0002c0001t0001g0220 a0002c0006t0002g0180 a0002c0006t0002g0190 a0002c0006t0002g0196 a0002c0006t0002g0204 a0002c0006t0018g0142 a0002c0009t0001g0153 a0002c0012t0001g0130 a0003c0004t0026g0236 a0004c0022t0002g0217 a0005c0010t0002g0060 a0005c0010t0002g0061 a0005c0010t0002g0094 a0006c0015t0002g0017 a0006c0015t0002g0019 a0009c0033t0002g0035 a0010c0029t0002g0079 a0019c0038t0002g0081	74	277	0.2671	96	c.67 others(107): Show c.6778_*6779insCTCCTCCTCACACACCACACAGCTCACACCCCTC TCCTCACACACCACACAGCCCACACCCCTCTCCTCACACACCAGACAGCT CACACCCCTCTC		LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding					3977		chr1	TogoVar
LAMP1_chr13_113292239_113328672	113314375	C C	CCAGTGCG others(89): Show CCAGTGCGGAGATGTCGGTGTGCCTGGGGCGTGGCCTCCCGGAGGGAGTC AGTGTGGAGATGTCGGTGTGCCTGGGGCGTGGCCTCCCGGAGGGAGT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0019 a0004c0004t0019	a0004c0004t0019g0279 a0004c0004t0019g0279	1	344	0.0029	96	c.562 others(113): Show c.562+3511_562+3512insTGCGGAGATGTCGGTGTGCCTGGGGCGT GGCCTCCCGGAGGGAGTCAGTGTGGAGATGTCGGTGTGCCTGGGGCGTGG CCTCCCGGAGGGAGTCAG		LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP1_chr13_113292239_113328672	113314632	G G	GTGTGCCT others(89): Show GTGTGCCTGGGGCGTGGCCTCCTGGAGGGAACCAGTGTGGAGATGTCGGT GTGCCTGGGGCGTGGCCTCCTAGAGGGAGTCAGTGTGGAGATGCCCA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	354	0.0028	96	c.562 others(113): Show c.562+3860_562+3861insATGTGCCTGGGGCGTGGCCTCCTGGAGG GAACCAGTGTGGAGATGTCGGTGTGCCTGGGGCGTGGCCTCCTAGAGGGA GTCAGTGTGGAGATGCCC		LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
LAP3_chr4_17572198_17612970	17577191	C C	CGCACGCG others(89): Show CGCACGCGCACACGAATGCGGGCGCACACGAATGCGGGCGCACACGAATG CGGGCGCACACGAATGCGGGCGCACACGAATGCGGGCGCACACGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00609.hp2 HG00673.hp2 others(64): Show HG00323.hp2 HG00609.hp2 HG00673.hp2 HG00733.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01257.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02148.hp1 HG02257.hp1 HG02273.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02698.hp1 HG02738.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03831.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18945.hp2 NA18955.hp1 NA18972.hp2 NA18978.hp1 NA18984.hp2 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19083.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(48): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0197 a0001c0003t0001g0006 a0001c0003t0001g0016 a0001c0004t0001g0118 a0001c0004t0001g0120 a0001c0004t0001g0121 a0001c0006t0001g0001 a0001c0006t0001g0017	67	74	0.9054	96	c.-27 others(105): Show c.-275_-274insGCACGCGCACACGAATGCGGGCGCACACGAATGCGG GCGCACACGAATGCGGGCGCACACGAATGCGGGCGCACACGAATGCGGGC GCACACGAAT		LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding					6		chr4	TogoVar
LARS1_chr5_146108034_146187650	146174523	T T	TATATATA others(89): Show TATATATATATATATCCATATATGTATATATCCATATATATATATATCCA TATATGTATATATCCATATATATATATATCCATATATGTATATATCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0193 a0001c0001t0004g0193	1	248	0.0040	96	c.126 others(113): Show c.126-1750_126-1749insGGATATATACATATATGGATATATATAT ATATGGATATATACATATATGGATATATATATATATGGATATATACATAT ATGGATATATATATATAT		LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31						chr5	TogoVar
LDB2_chr4_16496541_16903645	16739636	G G	GTATATAT others(89): Show GTATATATATGTGTATATATATATGTGTATATACATATATGTATATATAT ATGTATATATACATATATGTATATATACATATATGTATATATACATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	113	0.0088	96	c.235 others(115): Show c.235+19521_235+19522insTATGTATATATACATATATGTATATA TACATATATGTATATATACATATATATATACATATATGTATATACACATA TATATATACACATATATATA		LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	2/7						chr4	TogoVar
LGALS3_chr14_55124252_55150423	55143843	C C	CAAATCTT others(89): Show CAAATCTTTGCTTCCTAGAAGCAAGTCTTCTAGAAATCTTTGCTTCCTAG AAGCAAGTCTTCTAGAAATCTTTGCTTCCTAGAAGCAAGTCTTCTAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0144 a0003c0003t0001g0144	1	145	0.0069	96	c.597 others(113): Show c.597+1107_598-1165dupCCTAGAAGCAAGTCTTCTAGAAATCTTT GCTTCCTAGAAGCAAGTCTTCTAGAAATCTTTGCTTCCTAGAAGCAAGTC TTCTAGAAATCTTTGCTT		LGALS3	ENSG00000131981.16	transcript	ENST00000254301.14	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr14	TogoVar
LHFPL6_chr13_39337892_39608193	39352909	A A	ATGTATAT others(89): Show ATGTATATATATGTGTATATATATATAAATGTATATATATGTGTATATAT ATATAAATGTATATATATGTGTATATATATATAAATGTATATATATG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	130	0.0077	96	c.485 others(113): Show c.485-8856_485-8855insCATATATATACATTTATATATATATACA CATATATATACATTTATATATATATACACATATATATACATTTATATATA TATACACATATATATACA		LHFPL6	ENSG00000183722.9	transcript	ENST00000379589.4	protein_coding	3/3						chr13	TogoVar
LHPP_chr10_124456823_124619141	124507254	T T	TGAGGGGG others(89): Show TGAGGGGGGTAGGGAGGATTTCAGGTCGGGGGGTAGACAGGATTTCAGGT GGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03225.hp1 HG02615.hp2 HG03225.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0008 a0001c0001t0001 a0003c0003t0008	a0001c0001t0001g0112 a0003c0003t0008g0008 a0001c0001t0001g0112 a0003c0003t0008g0008	2	215	0.0093	96	c.624 others(113): Show c.624+9126_624+9127insGAGGGGGGTAGGGAGGATTTCAGGTCGG GGGGTAGACAGGATTTCAGGTGGGGGGTAGGGAGGATTTCAGGTGTGGAG GGTAGACAGGATTTCAGG		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6						chr10	TogoVar
LHPP_chr10_124456823_124619141	124507308	A A	AGGGTAGA others(89): Show AGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGGGCGGGTAGACAGGATTTCAGGTGGGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0008 a0003c0003t0008g0008	1	205	0.0049	96	c.624 others(113): Show c.624+9210_624+9211insACAGGATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTGGGCGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGA TTTCAGGTGGGGGGGTAG		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507611	C C	CAGGATTT others(89): Show CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGAGTAGGCAG GATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	151	0.0066	96	c.624 others(113): Show c.624+9496_624+9497insGGGGGGTAGGGAGGATTTCAGGTGGGGA GTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTG		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
LIN28B_chr6_104952107_105088332	105023446	T T	TAATTATA others(89): Show TAATTATATTATATATAATTATATTATATTATATATAATATAATTATATT ATATATAATATAATTATATTATATATAATATAATTATATTATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0005 a0001c0002t0007g0005	1	276	0.0036	96	c.199 others(113): Show c.199-2851_199-2850insATTATATTATATATAATTATATTATATT ATATATAATATAATTATATTATATATAATATAATTATATTATATATAATA TAATTATATTATATATAA		LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
LIPG_chr18_49557057_49604185	49579001	G G	GGGGAGAG others(89): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01943.hp1 HG02155.hp1 others(7): Show HG01496.hp2 HG01943.hp1 HG02155.hp1 HG02615.hp1 HG03669.hp2 NA18612.hp1 NA18955.hp2 NA18977.hp1 NA19007.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0002c0002t0005 a0002c0002t0014 a0002c0002t0065	a0001c0001t0001g0018 a0001c0001t0001g0233 a0001c0001t0002g0053 others(6): Show a0001c0001t0001g0018 a0001c0001t0001g0233 a0001c0001t0002g0053 a0001c0001t0003g0074 a0001c0001t0010g0149 a0001c0001t0011g0266 a0002c0002t0005g0001 a0002c0002t0014g0022 a0002c0002t0065g0342	10	95	0.1053	96	c.794 others(113): Show c.794-2272_794-2177dupAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGG		LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
LMF2_chr22_50497949_50512702	50504145	A A	ACCCCCGG others(89): Show ACCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCC CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG01361.hp2 others(9): Show HG00741.hp1 HG01243.hp1 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02280.hp1 HG02572.hp2 HG02622.hp1 HG03225.hp2 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0006 a0001c0009 a0001c0011 others(2): Show a0001c0006 a0001c0009 a0001c0011 a0001c0014 a0001c0015	a0001c0006t0001 a0001c0009t0001 a0001c0011t0001 others(2): Show a0001c0006t0001 a0001c0009t0001 a0001c0011t0001 a0001c0014t0001 a0001c0015t0001	a0001c0006t0001g0005 a0001c0009t0001g0074 a0001c0011t0001g0014 others(3): Show a0001c0006t0001g0005 a0001c0009t0001g0074 a0001c0011t0001g0014 a0001c0014t0001g0018 a0001c0014t0001g0077 a0001c0015t0001g0016	12	49	0.2449	96	c.171 others(113): Show c.1718+194_1718+195insGTGGGGTGTGGAGCCCGGGGTGCAGGGG TAAGGCCGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGT AAGGCCGGGCACCGGGGG		LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13						chr22	TogoVar
LMO2_chr11_33853576_33897076	33880162	C C	CATGATAT others(89): Show CATGATATATACACATGATATATATATATCATATATACACATGATATATA TATCATATATACACATGATATATATATCATATATACACATGATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00609.hp1 others(17): Show HG00099.hp1 HG00280.hp2 HG00609.hp1 HG01496.hp1 HG01928.hp2 HG01981.hp2 HG02027.hp1 HG02055.hp1 HG02293.hp1 HG02717.hp1 HG02922.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03654.hp1 HG03688.hp1 NA18986.hp2 NA19062.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0027	a0001c0001t0001g0236 a0001c0001t0001g0282 a0001c0001t0001g0290 others(17): Show a0001c0001t0001g0236 a0001c0001t0001g0282 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0345 a0001c0001t0001g0368 a0001c0001t0002g0046 a0001c0001t0002g0071 a0001c0001t0002g0183 a0001c0002t0003g0061 a0001c0002t0003g0098 a0001c0002t0003g0099 a0001c0002t0003g0138 a0001c0002t0006g0217 a0001c0002t0006g0372 a0001c0002t0007g0371 a0001c0002t0008g0097 a0001c0002t0027g0373	20	140	0.1429	96	c.-27 others(115): Show c.-272+1661_-272+1662insATATATCATGTGTATATATGATATAT ATATCATGTGTATATATGATATATATATCATGTGTATATATGATATATAT ATATCATGTGTATATATCAT		LMO2	ENSG00000135363.12	transcript	ENST00000257818.3	protein_coding	2/5						chr11	TogoVar
LMO2_chr11_33853576_33897076	33880167	G G	GATATATA others(89): Show GATATATACACATGATATATATATCATATATACACATGATATATATATCA TATATACACATGATATATATATCATATATACACATGATATATATATC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02717.hp2 HG02895.hp1 others(2): Show HG01884.hp1 HG02717.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0005 a0001c0004t0003 a0001c0002t0005 a0001c0004t0003	a0001c0002t0005g0006 a0001c0002t0005g0150 a0001c0004t0003g0200 a0001c0002t0005g0006 a0001c0002t0005g0150 a0001c0004t0003g0200	5	154	0.0325	96	c.-27 others(115): Show c.-272+1561_-272+1656dupGATATATATATCATGTGTATATATGA TATATATATCATGTGTATATATGATATATATATCATGTGTATATATGATA TATATATCATGTGTATATAT		LMO2	ENSG00000135363.12	transcript	ENST00000257818.3	protein_coding	2/5						chr11	TogoVar
LMO2_chr11_33853576_33897076	33880254	T T	TATATATA others(89): Show TATATATATCATATATACACATGATATATATATCATATATACACATGATA TATATATCATATATACACATGATATATATATATCATATATACACATG	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19060.hp1 NA19064.hp2 others(1): Show NA19056.hp2 NA19060.hp1 NA19064.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0004 a0001c0002t0006 others(1): Show a0001c0001t0001 a0001c0002t0004 a0001c0002t0006 a0001c0003t0013	a0001c0001t0001g0311 a0001c0002t0004g0309 a0001c0002t0006g0307 others(1): Show a0001c0001t0001g0311 a0001c0002t0004g0309 a0001c0002t0006g0307 a0001c0003t0013g0310	4	286	0.0140	96	c.-27 others(115): Show c.-272+1569_-272+1570insCATGTGTATATATGATATATATATAT CATGTGTATATATGATATATATATCATGTGTATATATGATATATATATCA TGTGTATATATGATATATAT		LMO2	ENSG00000135363.12	transcript	ENST00000257818.3	protein_coding	2/5						chr11	TogoVar
LMO7_chr13_75631330_75864866	75771545	T T	TCTTTAAA others(89): Show TCTTTAAAAATAGAATTTTTAAAGACTTTAAAAACAGAATTTTTAAAGAC TTTAAAAACAGAATTTTTAAAGACTTTAAAAACAGAATTTTTAAAGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03195.hp2 HG02895.hp1 HG02897.hp2 HG03195.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0001 a0007c0016t0001g0252 a0007c0016t0001g0001 a0007c0016t0001g0252	3	61	0.0492	96	c.317 others(115): Show c.317+10516_317+10517insTAGAATTTTTAAAGACTTTAAAAACA GAATTTTTAAAGACTTTAAAAACAGAATTTTTAAAGACTTTAAAAACAGA ATTTTTAAAGACTTTAAAAA		LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding	4/30					INFO_REALIGN_3_PRIME	chr13	TogoVar
LOC114841035_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(89): Show GAGAGAGAGAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	252	0.0040	96	c.-41 others(107): Show c.-4157_-4156insAGAGAGAGAAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATA TATATATATATA		LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding					3971		chr11	TogoVar
LOC114841035_chr11_64236095_64249132	64237127	G G	GAGAGAGA others(89): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	278	0.0036	96	c.-41 others(107): Show c.-4153_-4152insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATATAT ATATATATATAT		LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding					3967		chr11	TogoVar
LOC114841035_chr11_64236095_64249132	64237127	G G	GAGAGAGA others(89): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GATATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	278	0.0036	96	c.-41 others(107): Show c.-4153_-4152insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGATATATATATATATATATATATATATATATATAT ATATATATATAT		LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding					3967		chr11	TogoVar
LOC128125818_chr4_6059977_6075162	6067579	G G	GCACTCAA others(89): Show GCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCACGTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	356	0.0028	96	c.106 others(113): Show c.106+2477_106+2478insAACGTGGAGCTCAGGGGGGTGACCTGTG TGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTGTG TGCAGAAGAGCTTGAGTG		LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1						chr4	TogoVar
LOC128125818_chr4_6059977_6075162	6067579	G G	GCACTCAA others(89): Show GCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18950.hp1 NA18988.hp2 others(4): Show NA18945.hp2 NA18950.hp1 NA18988.hp2 NA19010.hp2 NA19060.hp1 NA19075.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0133 a0001c0001t0001g0015 a0001c0001t0001g0133	7	362	0.0193	96	c.106 others(113): Show c.106+2477_106+2478insAACCTGGAGCTCAGGGGGGTGACCTGTG TGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTGTG TGCAGAAGAGCTTGAGTG		LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1						chr4	TogoVar
LOC128125818_chr4_6059977_6075162	6067677	G G	GGTTCACT others(89): Show GGTTCACTCAAGCTCTTCCGCACACACAGGTCACCCCCCTGAGCTCCACG TTCACTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	271	0.0037	96	c.106 others(113): Show c.106+2379_106+2380insGTGGAGCTCAGGGGGGTGACCTGCGTGT GCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGTGC GGAAGAGCTTGAGTGAAC		LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1						chr4	TogoVar
LOC128125818_chr4_6059977_6075162	6067677	G G	GGTTCACT others(89): Show GGTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCACG TTCACTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(152): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01934.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG02717.hp1 HG03654.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0062 a0001c0001t0001g0092 a0001c0001t0001g0113 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0225	155	425	0.3647	96	c.106 others(113): Show c.106+2284_106+2379dupGTGGAGCTCAGGGGGGTGACCTGCGTGT GCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGTGC AGAAGAGCTTGAGTGAAC		LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1						chr4	TogoVar
LOC128125818_chr4_6059977_6075162	6067774	G G	GTTCACTC others(89): Show GTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCACGT TCACTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCACA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	460	0.0022	96	c.106 others(113): Show c.106+2282_106+2283insTGTGGAGCTCAGGGGGGTGACCTGCGTG TGCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGTG CAGAAGAGCTTGAGTGAA		LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1						chr4	TogoVar
LRBA_chr4_150259435_151020284	150420449	A A	AATATATA others(89): Show AATATATAAAGTATATATAATACACATTATAATATATATAAAGTATATAT AATACACATTATAATATATATAAAGTATATATAATACACATTATAAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0133 a0002c0002t0002g0133	1	145	0.0069	96	c.704 others(115): Show c.7042-4955_7042-4860dupATTATAATGTGTATTATATATACTTT ATATATATTATAATGTGTATTATATATACTTTATATATATTATAATGTGT ATTATATATACTTTATATAT		LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	46/56						chr4	TogoVar
LRBA_chr4_150259435_151020284	150420919	C C	CACATTAT others(89): Show CACATTATAATATATATAAAGTATATATAATACACATTATAATATATATA AAGTATATATAATATACATTATAATATATATAAAGTATATATAATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02897.hp2 HG03540.hp1 HG02818.hp1 HG02897.hp2 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0134 a0002c0002t0001g0138 a0002c0002t0001g0124 a0002c0002t0001g0134 a0002c0002t0001g0138	3	30	0.1000	96	c.704 others(115): Show c.7042-5330_7042-5329insATATTATATATACTTTATATATATTA TAATGTATATTATATATACTTTATATATATTATAATGTGTATTATATATA CTTTATATATATTATAATGT		LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	46/56						chr4	TogoVar
LRBA_chr4_150259435_151020284	150420919	C C	CACATTAT others(89): Show CACATTATAATATATATAAAGTATATATAATATACATTATAATATATATA AAGTATATATAATATACATTATAATATATATAAAGTATATATAATAT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0160 a0003c0004t0001g0160	1	28	0.0357	96	c.704 others(115): Show c.7042-5425_7042-5330dupATATTATATATACTTTATATATATTA TAATGTATATTATATATACTTTATATATATTATAATGTATATTATATATA CTTTATATATATTATAATGT		LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	46/56						chr4	TogoVar
LRBA_chr4_150259435_151020284	150421120	A A	ATATATAT others(89): Show ATATATATAAAGTATATATAATATACATTATAATATATATAAAGTATATA TAATATACATTATAATATATATAAAGTATATATAATATACATTATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp1 HG02451.hp2 HG02886.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0002 a0008c0010t0002	a0008c0010t0002g0131 a0008c0010t0002g0132 a0008c0010t0002g0131 a0008c0010t0002g0132	2	164	0.0122	96	c.704 others(115): Show c.7042-5531_7042-5530insATATAATGTATATTATATATACTTTA TATATATTATAATGTATATTATATATACTTTATATATATTATAATGTATA TTATATATACTTTATATATA		LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	46/56						chr4	TogoVar
LRCOL1_chr12_132598151_132615582	132598516	C C	CCGCCTCC others(89): Show CCGCCTCCTCTCCGCGCGCCCCCTCCTCTCCGCGCGCCCCCTCCTCTCCG CGCGCCCCGCCTCCTCTCCGCGCGCCCCCTCCTCTCCGCGCGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG02818.hp1 HG01934.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	2	296	0.0068	96	c.48 others(107): Show c.4885_*4886insAGGGGCGCGCGGAGAGGAGGGGGCGCGCGGAGAG GAGGCGGGGCGCGCGGAGAGGAGGGGGCGCGCGGAGAGGAGGGGGCGCGC GGAGAGGAGGCG		LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding					4634		chr12	TogoVar
LRP1B_chr2_140226423_142136016	140228171	C C	CATATATA others(89): Show CATATATAAATATATATATTCCATATATAAATATATATATTCCATATATA TAAATATATATATTCCATATATAAATATATTCCATATATATAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02723.hp1 HG02965.hp1 others(1): Show HG01884.hp2 HG02723.hp1 HG02965.hp1 HG02965.hp2	a0001 a0004 a0001 a0004	a0001c0011 a0001c0016 a0001c0027 others(1): Show a0001c0011 a0001c0016 a0001c0027 a0004c0021	a0001c0011t0001 a0001c0016t0001 a0001c0027t0001 others(1): Show a0001c0011t0001 a0001c0016t0001 a0001c0027t0001 a0004c0021t0001	a0001c0011t0001g0014 a0001c0016t0001g0011 a0001c0027t0001g0021 others(1): Show a0001c0011t0001g0014 a0001c0016t0001g0011 a0001c0027t0001g0021 a0004c0021t0001g0026	4	27	0.1481	96	c.50 others(107): Show c.5014_*5015insATATTTATATATATGGAATATATTTATATATGGA ATATATATATTTATATATATGGAATATATATATTTATATATGGAATATAT ATATTTATATAT		LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding					3251		chr2	TogoVar
LRP2_chr2_169122109_169367534	169326172	C C	CTCCCTCT others(89): Show CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCT CCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCTCCCCCTCT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0025 a0025	a0025c0147 a0025c0147	a0025c0147t0002 a0025c0147t0002	a0025c0147t0002g0031 a0025c0147t0002g0031	1	157	0.0064	96	c.80- others(111): Show c.80-5289_80-5288insAGAGGGGGAGGGAGAGGGGAGAGGGGAGAG GGGAGAGGGGAGAGGGGAGAGGGGGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGA		LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	1/78						chr2	TogoVar
LRRC27_chr10_132327193_132386508	132364513	A A	ACACCCAC others(89): Show ACACCCACACTCACACCCACCCACACTCACACCCACCCACACTCACACCC ACCCACACTCACACCCACCCACACTTACACCCACCCACACTTACACC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0108 a0001c0003t0006g0108	1	263	0.0038	96	c.129 others(113): Show c.1290-908_1290-907insCCACACTCACACCCACCCACACTCACAC CCACCCACACTCACACCCACCCACACTCACACCCACCCACACTTACACCC ACCCACACTTACACCCAC		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar

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