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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
IFNAR1_chr21_33319970_33364864	33322870	T T	TGGAATAT others(193): Show TGGAATATATATGGAATACATATATATGGAATATATATATGGAATACATA TATATGGAATACATATATATGGAATACACATATGGAATACATATATATGG AATACATATATGGAATACATATATATGGAATACATATATGGAATACATAT ATATGGAATACATATATGGAATACATATATGTGGAATACATATATGGAAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0218 a0002c0002t0002g0218	1	226	0.0044	200	c.-21 others(211): Show c.-2186_-2185insGGAATATATATGGAATACATATATATGGAATATA TATATGGAATACATATATATGGAATACATATATATGGAATACACATATGG AATACATATATATGGAATACATATATGGAATACATATATATGGAATACAT ATATGGAATACATATATATGGAATACATATATGGAATACATATATGTGGA ATACATATATGGAATA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2099		chr21	TogoVar
IL32_chr16_3060640_3074530	3066910	C C	CGGCCCAC others(193): Show CGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGC AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCT A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	391	0.0026	200	c.16- others(213): Show c.16-460_16-261dupCGCAGGCCCTGCTCTTGTGAGGAGGGGTCACC TAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACG CAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGC TCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGG AGGGGTCACCTAGGCCCA	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL32_chr16_3060640_3074530	3066910	C C	CGGCCCAC others(193): Show CGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGC AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCT A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	391	0.0026	200	c.16- others(213): Show c.16-341_16-340insTGCTGGCCCTGCTCTTGTGAGGAGGGGTCACC TAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACG CAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGC TCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGG AGGGGTCACCTAGGCCCA	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL32_chr16_3060640_3074530	3066910	C C	CGGCCCAC others(193): Show CGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGC AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCTGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCT A	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	391	0.0026	200	c.16- others(213): Show c.16-378_16-377insTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAG GCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAG GCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCT TGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGG GGTCACCTAGGCCCACGC	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL32_chr16_3060640_3074530	3066910	C C	CGGTCCAC others(193): Show CGGTCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGC AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCT A	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	391	0.0026	200	c.16- others(213): Show c.16-465_16-464insTCCACGCAGGCCCTGCTCTTGTGAGGAGGGGT CACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCC CACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCC CTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGT GAGGAGGGGTCACCTAGG	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL32_chr16_3060640_3074530	3066920	A A	AGGCCCTG others(193): Show AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCT AGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGC T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0420 a0001c0001t0001g0420	1	437	0.0023	200	c.16- others(213): Show c.16-381_16-380insTGCTGGCCCTGCTCTTGTGAGGAGGGGTCACC TAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACG CAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGC TCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGG AGGGGTCACCTAGGCCCA	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL32_chr16_3060640_3074530	3066920	A A	AGGCCCTG others(193): Show AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCT AGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGC T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0401 a0001c0001t0001g0401	1	437	0.0023	200	c.16- others(213): Show c.16-421_16-420insTGCTGGCCCTGCTCTTGTGAGGAGGGGTCACC TAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATG CTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGC TCTTGTGAGGAGGGGTCACCTAGGCCCACGCTGGCCCTGCTCTTGTGAGG AGGGGTCACCTAGGCCCA	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL32_chr16_3060640_3074530	3067000	A A	AGGCCCTG others(193): Show AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCACGCTGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCT AGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGC T	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	316	0.0032	200	c.16- others(213): Show c.16-341_16-340insTGCTGGCCCTGCTCTTGTGAGGAGGGGTCACC TAGGCCCACGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACG CAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGC TCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGG AGGGGTCACCTAGGCCCA	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL32_chr16_3060640_3074530	3067120	T T	TGGCCCTG others(193): Show TGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCT AGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGC A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0400 a0001c0001t0001g0400	1	333	0.0030	200	c.16- others(213): Show c.16-244_16-243insTGAGGAGGGGTCACCTAGGCCCACGCAGGCCC TGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTG AGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTC ACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCC ACGCAGGCCCTGCTCTTG	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL3RA_chrX_1331785_1387689	1360975	G G	GTCTCTCT others(193): Show GTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCT CTCTCTCCCTTCCCCTCTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCT CCCTTCCCCTCTGTTTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCT TCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTCTCTCTCCCTTCCCCT C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	106	0.0094	200	c.759 others(217): Show c.759+2109_759+2110insGTCTCTCTCTCCCTTCCCCTCTCTGTCT CTCTCTCCCTTCCCCTCTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCT CCCTTCCCCTCTGTTTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCT TCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTCTCTCTCCCTTCCCCT CTCTCTCTCTCCCTTCCCCTCT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IPO11_chr5_62407763_62633582	62598379	G G	GTTTTCTT others(193): Show GTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTCTTT CTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTCTTTCTTTCTTTCTTTC TTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTTTCTTTCT T	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	305	0.0033	200	c.267 others(219): Show c.2679-3385_2679-3384insTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTT CTTTCTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TCCTTCTTTCTTTCTTTCTTTCTT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29			chr5	TogoVar
IRAK2_chr3_10159919_10248745	10224727	C C	CCCATCCA others(193): Show CCCATCCATCCACCCACCCACCCACCCACCCACCCACCCATCCATCCACC CACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCA CCCACCCACCCACCCATCCATCCACCCACCCACCTGTCCACCCATGTACC CACCCTCCCACCAACCCACCCACCCATCCATTTATCCACCTACCCACACA T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0140 a0001c0003t0001g0140	1	290	0.0034	200	c.121 others(219): Show c.1210-1633_1210-1632insCCCACCCACCCACCCACCCACCCACC CATCCATCCACCCACCCACCCACCCACCCATCCATCCACCCACCCACCCA CCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTC CACCCATGTACCCACCCTCCCACCAACCCACCCACCCATCCATTTATCCA CCTACCCACACATCCATCCATCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
IRAK2_chr3_10159919_10248745	10224731	T T	TCCATCCA others(193): Show TCCATCCACCCACCCACCCACCCACCCACCCACCCATCCATCCACCCACC CACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCA CCCACCCACCCATCCATCCACCCACCCACCTGTCCACCCATGTACCCACC CTCCCACCAACCCACCCACCCATCCATTTATCCACCTACCCACACATCCA C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0207 a0001c0003t0001g0207	1	269	0.0037	200	c.121 others(219): Show c.1210-1633_1210-1632insCCCACCCACCCACCCACCCACCCACC CATCCATCCACCCACCCACCCACCCACCCATCCATCCACCCACCCACCCA CCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTC CACCCATGTACCCACCCTCCCACCAACCCACCCACCCATCCATTTATCCA CCTACCCACACATCCACCCATCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
IRAK2_chr3_10159919_10248745	10224735	T T	TCCATCCA others(193): Show TCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATC CACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCA CCCATCCATCCACCTACCCACCTGTCCACCCATGTACCCACCCTCCCACC AACCCACCCACCCATCCATTTATCCACCTACCCACACATCCACCCATCCA C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01884.hp1 HG02280.hp2 others(13): Show HG01081.hp2 HG01884.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02717.hp2 HG02818.hp1 HG02896.hp2 HG02965.hp2 HG03139.hp1 HG03209.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp1 NA19030.hp2 NA19043.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0019 a0001c0001 a0012c0019	a0001c0001t0002 a0012c0019t0002 a0001c0001t0002 a0012c0019t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0055 others(13): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0055 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0125 a0001c0001t0002g0133 a0001c0001t0002g0145 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0176 a0001c0001t0002g0220 a0001c0001t0002g0272 a0012c0019t0002g0204	16	195	0.0821	200	c.121 others(219): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCCACCCATCCACCCATCCATCCACCCACCCACCCACCCATCCA TCCACCCACCCACCCACCCATCCATCCACCTACCCACCTGTCCACCCATG TACCCACCCTCCCACCAACCCACCCACCCATCCATTTATCCACCTACCCA CACATCCACCCATCCACCCATCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGAE_chr17_3709628_3806188	3788847	T T	TAATAATT others(193): Show TAATAATTATTAAAATAATTATTTAAAAATAATAATTATTAAAATAATTA TTTAAAAATAATAATTATTAAAATAATTATTTAAAAATAATAATTATTAA AATAATTATTTAAAAATAATAATTATTAAAATAATTATTTAAAAATAATA ATTATTAAAATAATTATTTAAAAATAATAATTATTAAAATAATTATTTAA A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0157 a0002c0002t0001g0157	1	189	0.0053	200	c.35- others(217): Show c.35-11188_35-11187insTTTAAATAATTATTTTAATAATTATTAT TTTTAAATAATTATTTTAATAATTATTATTTTTAAATAATTATTTTAATA ATTATTATTTTTAAATAATTATTTTAATAATTATTATTTTTAAATAATTA TTTTAATAATTATTATTTTTAAATAATTATTTTAATAATTATTATTTTTA AATAATTATTTTAATAATTATT	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	1/30			chr17	TogoVar
KAT2B_chr3_20035446_20159404	20062025	C C	CATAATAT others(193): Show CATAATATATATTATATATAAAACATATAATATATATTATATATAAAACA TATAATATATATTATATATAAAACATATAATATATATTATATATAAAACA TATAATATATATTATATATAAAACATATAATATATATTATATATAAAACA TATAATATATATTATATATAAAACATATAATATATATTATATATAAAACA T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0135 a0001c0002t0002g0135	1	197	0.0051	200	c.304 others(219): Show c.304-10216_304-10215insTAAAACATATAATATATATTATATAT AAAACATATAATATATATTATATATAAAACATATAATATATATTATATAT AAAACATATAATATATATTATATATAAAACATATAATATATATTATATAT AAAACATATAATATATATTATATATAAAACATATAATATATATTATATAT AAAACATATAATATATATTATATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNG2_chr18_79792938_79905100	79867042	T T	TCTGGGTG others(193): Show TCTGGGTGCTGAGAGGTCTGGGTGCTGAGGCCTGGGTGCTGAGAGGTCTG GGTGCTGAGGTCTGGGTGCTGAGAGGTCTGTGTTCTCAGAGATTTGGGTG CTAAGAGGCCTGGGTGCTGAGAGGTCTGTGTGCTGAGAGGTCTGTGTGCT GAGAGGTCTGGGTGCCGAGGTCTGGGTGCTGAGAGGTCTGGGTGCTGAGG C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02818.hp1 HG02055.hp2 HG02109.hp1 HG02818.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0081 a0001c0007t0001g0083 a0001c0007t0001g0295 a0001c0007t0001g0081 a0001c0007t0001g0083 a0001c0007t0001g0295	3	310	0.0097	200	c.624 others(217): Show c.624+2833_624+2834insTCTCAGAGATTTGGGTGCTAAGAGGCCT GGGTGCTGAGAGGTCTGTGTGCTGAGAGGTCTGTGTGCTGAGAGGTCTGG GTGCCGAGGTCTGGGTGCTGAGAGGTCTGGGTGCTGAGGCCTGGGTGCTG AGAGGTCTGGGTGCTGAGGCCTGGGTGCTGAGAGGTCTGGGTGCTGAGGT CTGGGTGCTGAGAGGTCTGTGT	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNMA1_chr10_76879882_77642808	77295617	T T	TAAAAATA others(193): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0054 a0001c0001t0003g0054	1	106	0.0094	200	c.541 others(219): Show c.541-44362_541-44361insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGTATTTTT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	2/27			chr10	TogoVar
KDM4B_chr19_4964113_5158598	5131596	A A	AGGGGAGG others(193): Show AGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGC AGGGAGGAGGGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGAGGGG GGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAG CTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGC G	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0087 a0002c0003t0004g0087	1	237	0.0042	200	c.178 others(216): Show c.1785+99_1785+100insCAGGGAGGAGGGGGGCAGGTGGGGTGGAG CGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGG GGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGG AGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAG GGGAGCTGGTGGCGGGGGAGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429100	T T	TATATATA others(193): Show TATATATAATATATATATTATATATATGTTATATATATATATAATATATA TATTATATATATGTTACATATATATAATATATATATTATATATATGTTAC ATATATATAATATATATATTATATATATGTTATATATATATAATATATAT ATATTATATATATGTTACATATATATAATATATATATTATATATATGTTA C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0153 a0001c0001t0055g0153	1	276	0.0036	200	c.-44 others(211): Show c.-4400_-4399insGTAACATATATATAATATATATATTATATATATG TAACATATATATAATATATATATATTATATATATATAACATATATATAAT ATATATATTATATATATGTAACATATATATAATATATATATTATATATAT GTAACATATATATAATATATATATTATATATATATATAACATATATATAA TATATATATTATATAT	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4290		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429100	T T	TATATATA others(193): Show TATATATAATATATATATTATATATATGTTATATATATATATAATATATA TATTATATATATGTTACATATATATAATATATATATTATATATATGTTAC ATATATATAATATATATATTATATATATGTTATATATATATATAATATAT ATATTATATATATGTTACATATATATAATATATATATTATATATATGTTA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG02071.hp2 HG02083.hp1 others(2): Show HG00558.hp2 HG02071.hp2 HG02083.hp1 NA18947.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0020 a0001c0001t0048 a0001c0001t0004 a0001c0001t0020 a0001c0001t0048	a0001c0001t0004g0010 a0001c0001t0004g0148 a0001c0001t0020g0149 others(1): Show a0001c0001t0004g0010 a0001c0001t0004g0148 a0001c0001t0020g0149 a0001c0001t0048g0152	5	280	0.0179	200	c.-44 others(211): Show c.-4400_-4399insGTAACATATATATAATATATATATTATATATATG TAACATATATATAATATATATATTATATATATATATAACATATATATAAT ATATATATTATATATATGTAACATATATATAATATATATATTATATATAT GTAACATATATATAATATATATATTATATATATATATAACATATATATAA TATATATATTATATAT	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4290		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429100	T T	TATATATA others(193): Show TATATATAATATATATATTATATATATGTTATATATATATATAATATATA TATTATATATATGTTACATATATATAATATATATATTATATATATGTTAT ATATATATATAATATATATATTATATATATGTTACATATATATAATATAT ATATTATATATATGTTACATATATATAATATATATATTATATATATGTTA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02735.hp1 HG02683.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0004g0010 a0001c0001t0001g0001 a0001c0001t0004g0010	2	277	0.0072	200	c.-44 others(211): Show c.-4400_-4399insGTAACATATATATAATATATATATTATATATATG TAACATATATATAATATATATATTATATATATGTAACATATATATAATAT ATATATTATATATATATATAACATATATATAATATATATATTATATATAT GTAACATATATATAATATATATATTATATATATATATAACATATATATAA TATATATATTATATAT	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4290		chr19	TogoVar
KIF1A_chr2_240708767_240825219	240780886	A A	ACACACAC others(193): Show ACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACAC ACAGCTCCACACACACACACACACACAGCTCCACACACACACACAGCTCC ACACACACACACACACAGCTCCCCACACACACACAGCTCCACACACACAC ACACACAGCTCCACACACACACACAGCTCCACACACACACACACACAGCT C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0192 a0001c0005t0001g0192	1	326	0.0031	200	c.882 others(217): Show c.882+1703_882+1704insGAGCTGTGTGTGTGTGTGTGTGGAGCTG TGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTG GGGAGCTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTG TGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTG TGTGTGGAGCTGTGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240786744	G G	GCCCCTGA others(193): Show GCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGG GTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCA GGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGT GGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGG A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0022 a0001c0043t0022	a0001c0043t0022g0272 a0001c0043t0022g0272	1	280	0.0036	200	c.430 others(215): Show c.430-232_430-231insTCCTGATGGTGGCCCCTACCCTCTCACTCA GGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGATGCTGG CTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCCACCCCCTCACTCAGG GGTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGATGGTGGCC CCTACCCTCTCACTCAGGGG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KSR2_chr12_117448012_117973990	117606501	C C	CCTCCTTC others(193): Show CCTCCTTCCTCCCTCCCTCCCCTCCTTCCTCCCTCCCTCCCCTCCTTCCT CCCTCCCTCCTCTCCTTCCTCCCTCCCTCCTCTCCTTCCTCCCTCCCTCC CCTCCTTCCTCCCTCCCTCCTCTCCTTCCTTCCTCCATCCCCTCCTTCCT CCCTCCCTCCCCTCCTTCCTCCCTCCCTCCCCTCCTTCCTCCCTCCCTCC T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0191 a0001c0002t0015g0191	1	65	0.0154	200	c.117 others(221): Show c.1172-24143_1172-24142insAGGAGGGAGGGAGGAAGGAGGGGA GGGAGGGAGGAAGGAGGGGAGGGAGGGAGGAAGGAGGGGATGGAGGAAGG AAGGAGAGGAGGGAGGGAGGAAGGAGGGGAGGGAGGGAGGAAGGAGAGGA GGGAGGGAGGAAGGAGAGGAGGGAGGGAGGAAGGAGGGGAGGGAGGGAGG AAGGAGGGGAGGGAGGGAGGAAGGAG	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	5/19			chr12	TogoVar
LAMA5_chr20_62304065_62372312	62360608	G G	GGAGGGAT others(193): Show GGAGGGATAGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGG GTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGTGGGTGGAT GGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGGATAGATGGGTGG GTGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGGTGGATGGAT A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0051 a0051	a0051c0094 a0051c0094	a0051c0094t0001 a0051c0094t0001	a0051c0094t0001g0097 a0051c0094t0001g0097	1	177	0.0056	200	c.450 others(217): Show c.450+1791_450+1792insTATCCATCCACCCACCCACCCACCCACC CATCTATCCCTCCACCCACCCACCCACCCATCTATCCCTCCACCCACCCA CCCACCTATCCATCCACCCACCCATCCACCCACCCATCTATTCCTCCACC CACCCACCCACCTATCCATCCACCCACCCACCCACCCACCCATCTATCCC TCCACCCACCCATCTATCCCTC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LLGL2_chr17_75520697_75580209	75558824	A A	ACGCCTCC others(193): Show ACGCCTCCTCCATCCACACCACGCCTCCTCCATCCGCACCCCGCCTCCTC CATCCGCACCCCGCCTCCTCCATCCGCACCCCGCCTCCTCCATCCACACC ATGCCTCCTCCATCCGCACCCCGCCTCCTCCATCCGCACCCCGCCTCCTC CATCCGCACCCCGCCTCCTCCATCCGCACCCCGCCTCCTCCATCCGCACC C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0090 a0002c0006t0003g0090	1	369	0.0027	200	c.371 others(215): Show c.371+211_371+212insACACCACGCCTCCTCCATCCGCACCCCGCC TCCTCCATCCGCACCCCGCCTCCTCCATCCGCACCCCGCCTCCTCCATCC ACACCATGCCTCCTCCATCCGCACCCCGCCTCCTCCATCCGCACCCCGCC TCCTCCATCCGCACCCCGCCTCCTCCATCCGCACCCCGCCTCCTCCATCC GCACCCCGCCTCCTCCATCC	LLGL2	ENSG00000073350.14	transcript	ENST00000392550.8	protein_coding	5/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
LLGL2_chr17_75520697_75580209	75558925	C C	CGCCTCCT others(193): Show CGCCTCCTCCATCCGCACCCCGCCTCCTCCATCCGCACCCCGCCTCCTCC ATCCGCACCCCGCCTCCTCCATCCGCACCCCGCCTCCTCCATCCGCACCC CGCCTCCTCCATCCGCACCCCGCCTCCTCCATCCGCACCCCGCCTCCTCC ATCCGCACCCCGCCTCCTCCATCCGCACCCCGCCTCCTCCATCCACACCA T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0173 a0002c0006t0003g0173	1	368	0.0027	200	c.371 others(215): Show c.371+298_371+299insGCCTCCTCCATCCGCACCCCGCCTCCTCCA TCCGCACCCCGCCTCCTCCATCCGCACCCCGCCTCCTCCATCCGCACCCC GCCTCCTCCATCCGCACCCCGCCTCCTCCATCCGCACCCCGCCTCCTCCA TCCGCACCCCGCCTCCTCCATCCGCACCCCGCCTCCTCCATCCGCACCCC GCCTCCTCCATCCACACCAT	LLGL2	ENSG00000073350.14	transcript	ENST00000392550.8	protein_coding	5/25			chr17	TogoVar
LMF1_chr16_848634_975984	954023	C C	CCCAAACC others(193): Show CCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAACCAGCCTCCT ACATATCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGAC ACCCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAACCAGCCTC CTACATATCCACACAGACACCCCAAACCAGCCTCCTACATATCCACACAG A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0164 a0001c0003t0001g0164	1	267	0.0037	200	c.503 others(215): Show c.503+333_503+334insTCTGTGTGGATATGTAGGAGGCTGGTTTGG GGTGTCTGTGTGGATATGTAGGAGGCTGGTTTGGGGTGTCTGTGTGGATA TGTAGGAGGCTGGTTTGGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTT GGGGTGTCTGTGTGGATATGTAGGAGGCTGGTTTGGGGTGTCTGTGTGGA TATGTAGGAGGCTGGTTTGG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LPCAT1_chr5_1456427_1528960	1483728	T T	TTAACATC others(193): Show TTAACATCGCGCACAAGCTGGAAGGCGTCTGTGGAGGGACACTTGCTATT ATAACATTGCGCACGAGCTGGAAGACATCCGTGGAGGGACACTTTCTGCT GTAACATCGCGCACCAGCTGGAAGGCGTCTGTGGAGGGACACTTGCTATT ATAACATTGCGCACGAGCTGGAAGACATCCGTGGAGGGACACTTTCTGCT G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp2 HG01257.hp1 others(1): Show HG01081.hp2 HG01109.hp2 HG01257.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0004 a0001c0001t0026 a0001c0001t0028 others(1): Show a0001c0001t0004 a0001c0001t0026 a0001c0001t0028 a0001c0007t0022	a0001c0001t0004g0026 a0001c0001t0026g0025 a0001c0001t0028g0348 others(1): Show a0001c0001t0004g0026 a0001c0001t0026g0025 a0001c0001t0028g0348 a0001c0007t0022g0256	4	366	0.0109	200	c.668 others(215): Show c.668-243_668-242insCAGCAGAAAGTGTCCCTCCACGGATGTCTT CCAGCTCGTGCGCAATGTTATAATAGCAAGTGTCCCTCCACAGACGCCTT CCAGCTGGTGCGCGATGTTACAGCAGAAAGTGTCCCTCCACGGATGTCTT CCAGCTCGTGCGCAATGTTATAATAGCAAGTGTCCCTCCACAGACGCCTT CCAGCTTGTGCGCGATGTTA	LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding	5/13			chr5	TogoVar
LPCAT1_chr5_1456427_1528960	1483742	G G	AAGCTGGA others(193): Show AAGCTGGAAGGCGTCTGTGGAGGGACACTTGCTATTATAACATTGCGCAC GAGCTGGAAGACATCCGTGGAGGGACACTTTCTGCTGTAACATCGCGCAC CAGCTGGAAGGCGTCTGTGGAGGGACACTTGCTATTATAACATTGCGCAC GAGCTGGAAGACATCCGTGGAGGGACACTTTCTGCTGTAACATCGCGCAC C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01358.hp2 HG00280.hp1 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0036 a0001c0002t0008 a0001c0002t0036	a0001c0002t0008g0130 a0001c0002t0036g0365 a0001c0002t0008g0130 a0001c0002t0036g0365	2	214	0.0093	200	c.668 others(212): Show c.668-256delCinsGGTGCGCGATGTTACAGCAGAAAGTGTCCCTCCA CGGATGTCTTCCAGCTCGTGCGCAATGTTATAATAGCAAGTGTCCCTCCA CAGACGCCTTCCAGCTGGTGCGCGATGTTACAGCAGAAAGTGTCCCTCCA CGGATGTCTTCCAGCTCGTGCGCAATGTTATAATAGCAAGTGTCCCTCCA CAGACGCCTTCCAGCTT	LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding	5/13			chr5	TogoVar
LPCAT1_chr5_1456427_1528960	1483742	G G	GAGCTGGA others(193): Show GAGCTGGAAGGCGTCTGTGGAGGGACACTTGCTATTATAACATTGCGCAC GAGCTGGAAGACATCCGTGGAGGGACACTTTCTGCTGTAACATCGCGCAC CAGCTGGAAGGCGTCTGTGGAGGGACACTTGCTATTATAACATTGCGCAC GAGCTGGAAGACATCCGTGGAGGGACACTTTCTGCTGTAACATCGCGCAC C	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18970.hp2 HG00423.hp2 NA18970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0016 a0001c0003t0001 a0001c0003t0016	a0001c0003t0001g0065 a0001c0003t0016g0366 a0001c0003t0001g0065 a0001c0003t0016g0366	2	214	0.0093	200	c.668 others(215): Show c.668-456_668-257dupGGTGCGCGATGTTACAGCAGAAAGTGTCCC TCCACGGATGTCTTCCAGCTCGTGCGCAATGTTATAATAGCAAGTGTCCC TCCACAGACGCCTTCCAGCTGGTGCGCGATGTTACAGCAGAAAGTGTCCC TCCACGGATGTCTTCCAGCTCGTGCGCAATGTTATAATAGCAAGTGTCCC TCCACAGACGCCTTCCAGCT	LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding	5/13			chr5	TogoVar
LRP1B_chr2_140226423_142136016	140828789	C C	CAAAAAAA others(193): Show CAAAAAAAAAAATAAAAAATACAAAAAATACAAAAAATTAGCCGGGCGTG GTAGCGGGTGCCTGTAGTCCCAGCTGCCTGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0004 a0001c0014t0004	a0001c0014t0004g0001 a0001c0014t0004g0001	1	17	0.0588	200	c.520 others(221): Show c.5209+11201_5209+11202insTTTTTTTTTTTTTTTGAGACAGAG TCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAG GCAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTAT TTTTTGTATTTTTTATTTTTTTTTTT	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	31/90			chr2	TogoVar
LRP5_chr11_68307591_68454275	68372391	T T	TGAGGAGG others(193): Show TGAGGAGGTGCAGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGTG CAGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGG CGGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCCGGG ACCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCCGGGACCGTGGCGG C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0003 a0001c0004t0001g0003	1	205	0.0049	200	c.101 others(219): Show c.1015+6709_1015+6710insGGACCCGGGACCGTGGCGGCGAGGAG GTGCAGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTC AGGCGGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCC GGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCCGGGACCGTGG CGGCGAGGAGGTGCAGTGTCAGGC	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68372412	A A	AGACCCGG others(193): Show AGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCCGGGA CCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCCGGGACCGTGGCGGC AAGGAGGTGCAGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGTGC AGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGC G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01167.hp1 HG01169.hp1 HG00140.hp2 HG01167.hp1 HG01169.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0039 a0001c0002 a0008c0039	a0001c0002t0001 a0008c0039t0001 a0001c0002t0001 a0008c0039t0001	a0001c0002t0001g0187 a0001c0002t0001g0188 a0008c0039t0001g0189 a0001c0002t0001g0187 a0001c0002t0001g0188 a0008c0039t0001g0189	3	53	0.0566	200	c.101 others(219): Show c.1015+6741_1015+6742insTGTCAGGCGGACCCGGGACCGTGGCG GCGAGGAGGTGCAGTGTCAGGCGGACCCGGGACCGTGGCGGCAAGGAGGT GCAGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAG GCGGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCCGG GACCGTGGCGGCGAGGAGGTGCAG	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68372412	A A	AGACCCGG others(193): Show AGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCCGGGA CCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCCGGGACCGTGGCGGC GAGGAGGTGCAGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGTGC AGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGC G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01257.hp1 HG01258.hp1 others(31): Show HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01496.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA18906.hp1 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0002 a0001c0004 a0001c0005 others(15): Show a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0019 a0001c0026 a0001c0029 a0001c0038 a0001c0040 a0001c0041 a0002c0003 a0003c0006 a0003c0012 a0003c0014 a0003c0016 a0003c0024 a0007c0017	a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 others(15): Show a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0009t0001 a0001c0019t0001 a0001c0026t0001 a0001c0029t0001 a0001c0038t0001 a0001c0040t0001 a0001c0041t0001 a0002c0003t0001 a0003c0006t0001 a0003c0012t0001 a0003c0014t0001 a0003c0016t0001 a0003c0024t0001 a0007c0017t0001	a0001c0002t0001g0090 a0001c0002t0001g0119 a0001c0002t0001g0175 others(31): Show a0001c0002t0001g0090 a0001c0002t0001g0119 a0001c0002t0001g0175 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0186 a0001c0004t0001g0085 a0001c0004t0001g0114 a0001c0004t0001g0118 a0001c0004t0001g0120 a0001c0004t0001g0209 a0001c0005t0001g0002 a0001c0005t0001g0108 a0001c0005t0001g0117 a0001c0007t0001g0100 a0001c0007t0001g0101 a0001c0007t0001g0151 a0001c0009t0001g0006 a0001c0009t0001g0104 a0001c0019t0001g0112 a0001c0019t0001g0113 a0001c0026t0001g0049 a0001c0029t0001g0116 a0001c0038t0001g0091 a0001c0040t0001g0176 a0001c0041t0001g0086 a0002c0003t0001g0110 a0003c0006t0001g0024 a0003c0012t0001g0005 a0003c0014t0001g0007 a0003c0016t0001g0028 a0003c0024t0001g0019 a0007c0017t0001g0105 a0007c0017t0001g0106	34	84	0.4048	200	c.101 others(219): Show c.1015+6741_1015+6742insTGTCAGGCGGACCCGGGACCGTGGCG GCGAGGAGGTGCAGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGT GCAGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAG GCGGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCCGG GACCGTGGCGGCGAGGAGGTGCAG	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68372412	A A	AGACCCGG others(193): Show AGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCCGGGA CCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCCGGGACCGTGGCGGC GAGGAGGTGCAGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGTGC AGTGTCAGGCGGACCTGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGC G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01081.hp2 HG01256.hp2 others(10): Show HG01070.hp2 HG01081.hp2 HG01256.hp2 HG01433.hp2 HG01981.hp2 HG02148.hp1 NA18941.hp1 NA18942.hp1 NA18946.hp2 NA18952.hp2 NA18991.hp1 NA19084.hp2 NA21309.hp2	a0001 a0014 a0015 a0001 a0014 a0015	a0001c0001 a0001c0002 a0001c0046 others(2): Show a0001c0001 a0001c0002 a0001c0046 a0014c0048 a0015c0032	a0001c0001t0001 a0001c0002t0001 a0001c0046t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0046t0001 a0014c0048t0001 a0015c0032t0001	a0001c0001t0001g0087 a0001c0001t0001g0134 a0001c0001t0001g0135 others(10): Show a0001c0001t0001g0087 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0174 a0001c0002t0001g0010 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0194 a0001c0046t0001g0136 a0014c0048t0001g0182 a0015c0032t0001g0185	13	63	0.2063	200	c.101 others(219): Show c.1015+6741_1015+6742insTGTCAGGCGGACCCGGGACCGTGGCG GCGAGGAGGTGCAGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGT GCAGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAG GCGGACCTGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCCGG GACCGTGGCGGCGAGGAGGTGCAG	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68372412	A A	AGACCCGG others(193): Show AGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCCGGGA CCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCTGGGACCGTGGCGGC GAGGAGGTGCAGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGTGC AGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGC G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03471.hp2 HG02109.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0027 a0001c0002 a0001c0027	a0001c0002t0001 a0001c0027t0001 a0001c0002t0001 a0001c0027t0001	a0001c0002t0001g0124 a0001c0027t0001g0094 a0001c0002t0001g0124 a0001c0027t0001g0094	2	52	0.0385	200	c.101 others(219): Show c.1015+6741_1015+6742insTGTCAGGCGGACCCGGGACCGTGGCG GCGAGGAGGTGCAGTGTCAGGCGGACCTGGGACCGTGGCGGCGAGGAGGT GCAGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAG GCGGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCCGG GACCGTGGCGGCGAGGAGGTGCAG	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68372412	A A	AGACCCGG others(193): Show AGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCCGGGA CTGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCCGGGACCGTGGCGGC GAGGAGGTGCAGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGTGC AGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGC G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03453.hp1 NA19030.hp1 others(2): Show HG03130.hp1 HG03453.hp1 NA19030.hp1 NA19043.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0007 a0003c0006 a0001c0007 a0003c0006	a0001c0007t0001 a0003c0006t0001 a0001c0007t0001 a0003c0006t0001	a0001c0007t0001g0008 a0003c0006t0001g0030 a0003c0006t0001g0031 others(2): Show a0001c0007t0001g0008 a0003c0006t0001g0030 a0003c0006t0001g0031 a0003c0006t0001g0032 a0003c0006t0001g0033	5	55	0.0909	200	c.101 others(219): Show c.1015+6741_1015+6742insTGTCAGGCGGACCCGGGACTGTGGCG GCGAGGAGGTGCAGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGT GCAGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAG GCGGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCCGG GACCGTGGCGGCGAGGAGGTGCAG	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68372412	A A	AGACCCGG others(193): Show AGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCTGGGA CCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCCGGGACCGTGGCGGC GAGGAGGTGCAGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGTGC AGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGC G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0029 a0001c0005t0001g0029	1	51	0.0196	200	c.101 others(219): Show c.1015+6741_1015+6742insTGTCAGGCGGACCTGGGACCGTGGCG GCGAGGAGGTGCAGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGT GCAGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAG GCGGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCCGG GACCGTGGCGGCGAGGAGGTGCAG	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68372472	G G	GAGGAGGT others(193): Show GAGGAGGTGCAGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGTGC AGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGC GGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCCGGGA CCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCCGGGACCGTGGCGGC A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02055.hp1 HG02145.hp2 others(19): Show HG01934.hp1 HG02055.hp1 HG02145.hp2 HG02280.hp2 HG02559.hp2 HG02615.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02970.hp2 HG03098.hp1 HG03209.hp1 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA19030.hp2 NA19043.hp1 NA21309.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0020 a0003c0016 a0011c0035	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0020t0001 a0003c0016t0001 a0011c0035t0001	a0001c0001t0001g0109 a0001c0001t0001g0204 a0001c0001t0001g0205 others(19): Show a0001c0001t0001g0109 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0203 a0001c0004t0001g0083 a0001c0004t0001g0122 a0001c0005t0001g0202 a0001c0005t0001g0211 a0001c0020t0001g0201 a0003c0016t0001g0004 a0011c0035t0001g0102	22	199	0.1106	200	c.101 others(219): Show c.1015+6789_1015+6790insGGACCCGGGACCGTGGCGGCGAGGAG GTGCAGTGTCAGGCGGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTC AGGCGGACCCGGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCC GGGACCGTGGCGGCGAGGAGGTGCAGTGTCAGGCGGACCCGGGACCGTGG CGGCAAGGAGGTGCAGTGTCAGGC	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRRC14B_chr5_186495_201334	194146	A A	ACTGTCCT others(193): Show ACTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCAGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01891.hp1 HG02615.hp1 others(5): Show HG01099.hp2 HG01891.hp1 HG02615.hp1 HG02886.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0014 a0001c0003t0009 a0001c0003t0014	a0001c0003t0009g0006 a0001c0003t0014g0006 a0001c0003t0009g0006 a0001c0003t0014g0006	8	275	0.0291	200	c.900 others(215): Show c.900-519_900-518insTGACATTCTGTCCTGTGGTCTCACTGCCCC CCGCCGTCTGCTTTCTGAGCTGACATTCTGTCCTGTGGTCTCACTGCCCC CCGCCGTCTGCTTTCTGAGCAGACATTCTGTCCTGTGGTCTCACTGCCCC CCGCCGTCTGCTTTCTGAGCTGACATTCTGTCCTGTGGTCTCACTGCCCC CCGCCGTCTGCTTTCTGAGC	LRRC14B	ENSG00000185028.4	transcript	ENST00000328278.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
LRRC23_chr12_6899822_6919229	6909119	A A	ATTATATA others(193): Show ATTATATATTATATATAATATATAATATATAATATATAATATATATTTAT TAATAATATATATAATATATATATTTATTTATATATATATTATTATATGT ATATAAATATATATATTTATTAATATATATAAATATATATATTTATTAAT AATATATATAATATATATATAATATATAATATATAATATATAATATATAT T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0027 a0002c0002t0002g0027	1	225	0.0044	200	c.622 others(215): Show c.622-771_622-770insTTATATATTATATATAATATATAATATATA ATATATAATATATATTTATTAATAATATATATAATATATATATTTATTTA TATATATATTATTATATGTATATAAATATATATATTTATTAATATATATA AATATATATATTTATTAATAATATATATAATATATATATAATATATAATA TATAATATATAATATATATT	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LRRC27_chr10_132327193_132386508	132358595	C C	CGTGGGGA others(193): Show CGTGGGGAGGAGCCGAGGTGATGGAGCAGTGTGGGGAGGAGCCGAGGTGG TGGAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAGGTGCTGA GGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTAGAGCAGTGTGGGGA GGAGCCAAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGATGGAGCAG T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0116 a0001c0005t0002g0116	1	206	0.0049	200	c.117 others(219): Show c.1170+2711_1170+2712insGGGGAGGAGCCGAGGTGATGGAGCAG TGTGGGGAGGAGCCGAGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGG AGCAGCGTGGGGAGGTGCTGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGA GGTGGTAGAGCAGTGTGGGGAGGAGCCAAGGTGGTGGAGCAGCGTGGGGA GGAGCCGAGGTGATGGAGCAGTGT	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC36_chr16_67321815_67390204	67341007	G G	GTATTCTA others(193): Show GTATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02735.hp2 HG00140.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0063 a0001c0001t0001g0067	2	25	0.0800	200	c.71- others(213): Show c.71-766_71-765insGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATA	LRRC36	ENSG00000159708.18	transcript	ENST00000329956.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
LTBP2_chr14_74493183_74617237	74564285	T T	TTATATAT others(193): Show TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT ATTTATATATATATTTATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATATTTATATATATATTT A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0003 a0001c0033t0003	a0001c0033t0003g0053 a0001c0033t0003g0053	1	277	0.0036	200	c.831 others(217): Show c.831-8593_831-8592insTAAATATATATATAAATATATATATAAA TATATATATAAATATATATATAAATATATATATAAATATATATATAAATA TATATATAAATATATATATAAATATATATATAAATATATATATAAATATA TATAAATATATATATAAATATATATATAAATATATATAAATATATATATA AATATATATAAATATATATATA	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
LUC7L_chr16_183990_234449	187172	G G	GGGAGGAA others(193): Show GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGT CACGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGA ACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	324	0.0031	200	c.20 others(211): Show c.2025_*2026insTCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCT CCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTG TTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTG TCGCTGTTCCTCCCGTGACGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCC GTGTCGCTGTTCCTCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1817		chr16	TogoVar
MAGEF1_chr3_184705364_184717064	184712991	G G	GCCTTCCT others(193): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0000 a0004c0005t0002g0000	1	360	0.0028	200	c.-11 others(211): Show c.-1171_-1170insAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGG	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		928		chr3	TogoVar
MAGI3_chr1_113385515_113690923	113416138	A A	AATTATGT others(193): Show AATTATGTAATTAATGACACATATTATTATGTGTAATTAATGACACATTA TTATGTGTAATTAATGACACATATTATTATGTGTAATTAATGACACATAT TAATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATAT TAATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATAT T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	173	0.0058	200	c.316 others(219): Show c.316+24820_316+24821insGTAATTAATGACACATTATTATGTGT AATTAATGACACATATTATTATGTGTAATTAATGACACATATTAATTATG TAATTAATGACACATATTAATTATGTAATTAATGACACATATTAATTATG TAATTAATGACACATATTAATTATGTAATTAATGACACATATTATTATGT AATTAATGACACATATTATTATGT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGI3_chr1_113385515_113690923	113416469	T T	TTAATTTT others(193): Show TTAATTTTATATATTAATTCTATATAGTTAATTATATATTAATTACAGTT AATATATATTAATATATAACTATATATTAATTATATATATTAATATATAT TAATATATATTAATATATATATTAATATATATTAATATATATATTAATTA TATATATTAATATATATTAATTATATATATTAATTATATATATTTATATA G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	75	0.0133	200	c.316 others(219): Show c.316+25121_316+25122insAATTTTATATATTAATTCTATATAGT TAATTATATATTAATTACAGTTAATATATATTAATATATAACTATATATT AATTATATATATTAATATATATTAATATATATTAATATATATATTAATAT ATATTAATATATATATTAATTATATATATTAATATATATTAATTATATAT ATTAATTATATATATTTATATAGT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar

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