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
CNOT1_chr16_58514951_58634826	58586394	C C	CAGGGGGA others(386): Show CAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGAAGGGC AGGGGAGGGGGAGGGGGACTGGAGGGGAGGGGACGGGAGGGGGGAGGGGG AGGGGAGGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGA GGGGAAGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAG GGGAGGGGAAGGGGAGGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGA AGGGGAGGGAAGGGGAAGGGAAGGGGAGGGAAGGGAAGGGGAAGGGAAGG GGAGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	189	0.0053	393	c.637 others(408): Show c.637+150_637+151insTCCCCTCCCCTCCCCTCCCCTTCCCCTCCC CTCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCTTCCCTCCCCTTCCCTTC CCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCCT CCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCCCTC CCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTCCA GTCCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGTCCC CCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTTCCC CTCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCTGCCCTCCCC TTCCCCTCCCCCT	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586400	A A	AGGGGAGG others(386): Show AGGGGAGGGGGAGGGGAAGGGGAGGGCTAGGGGGAGGGGAAGGGGAGGGC AGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGGAAGGGG AGGGCAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGAAGGGCAG GGGAGGGGGAGGGGGACTGGAGGGAGGGGACGGGAGGGGGGAGGGGGAGG GGAGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGAAGGGGAGGGGA AGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAG GGGAAGGGGAAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGA AGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0001 a0009c0020t0001	a0009c0020t0001g0152 a0009c0020t0001g0152	1	111	0.0090	393	c.637 others(408): Show c.637+144_637+145insCTTCCCCTCCCCTCCCCTTCCCCTCCCCTC CCCTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTT CCCTTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTC CCCTCCCATCCCCTTCCCCTCCCCTTCCTTCCCCTTCCCCTCCCCTCCCC TCCAGTCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCTCCAGTC CCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTTC CCCTCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCCTCCC CTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTAGCCCTCCCCTTCC CCTCCCCCTCCCC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133748	T T	TTCTCTCC others(386): Show TTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCC CTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTC CCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCC ACCTCCCCTCCCTCTCTCCACCTTCCCCTCTCTCCCTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	108	0.0093	393	c.-42 others(404): Show c.-4296_-4295insTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCT CCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTT CCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCC ACCTTCCCTCTCTCCACCTCCCCTCCCTCTCTCCACCTTCCCCTCTCTCC CTCCCTCCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		4013		chr19	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGAAGA others(386): Show TGGGAAGACCCGTGAGGATCATGGGGGGGACGTGTGAGGATCATAGGGGA GACCCGTGAGGGTCATGGGGGGATGTGTGAGGATCATGGGGGGGGAAGTG TGAGGATCATAGAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATC ATGGAGGGCATGTGAGGATCATGGGGGGGACCCGTGAGGATCATGGGGGA CATGTGAGGATCATGGGGGACATGTGAGGATCATGGAGGGCATGTGAGGA TCATGGGGGACATGTGAGGATCATGGGAAGACGTGAGGATCATGGGAAGA CGTGAGGATCATGGGGGGGACGTGTGAGGATCATGGGGGGACCCATGAGG GTCATGGGGGGACGTGAGGATTGGGGGGACCCGTGAGGATCATG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02622.hp2 HG03471.hp1 others(1): Show HG01167.hp2 HG02622.hp2 HG03471.hp1 NA18906.hp1	a0005 a0005	a0005c0006 a0005c0023 a0005c0034 a0005c0006 a0005c0023 a0005c0034	a0005c0006t0001 a0005c0023t0001 a0005c0034t0001 a0005c0006t0001 a0005c0023t0001 a0005c0034t0001	a0005c0006t0001g0069 a0005c0006t0001g0071 a0005c0023t0001g0060 others(1): Show a0005c0006t0001g0069 a0005c0006t0001g0071 a0005c0023t0001g0060 a0005c0034t0001g0070	4	26	0.1538	393	c.177 others(410): Show c.1776+246_1776+247insAAGACCCGTGAGGATCATGGGGGGGACG TGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGAGG ATCATGGGGGGGGAAGTGTGAGGATCATAGAGGGGACATGTGAGGATCAT GGAGGGCATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGGACC CGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGGATC ATGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATGGGAAGAC GTGAGGATCATGGGAAGACGTGAGGATCATGGGGGGGACGTGTGAGGATC ATGGGGGGACCCATGAGGGTCATGGGGGGACGTGAGGATTGGGGGGACCC GTGAGGATCATGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	46005969	A A	AGCGGTGG others(386): Show AGCGGTGGGCGGGGCCCGGGGCAGACGCAGTGAGGCGGTGGGCGGGGCCG GGGTAGTCGCAGTAGGTGGTGGGCGGGGCCCGGGGCAGACGCAGTGAGGT GGCGGGCGGGGCCCGGGGCAGACGCAGTGAGGCGGTGGGAGGGGCCCGGG GCAGACGCAGTGAGGCGGTGGGCGGGGCCCGGGGCAGAGGCAGCGGGTGG TGGGCGGGGCCCGGGGCAGACGCAGTGAGGCGGTGGGCGGGGCCCGGGGC AGACGCAGTGAGGCGGTGGGAGGGGCCCGGGGCAGACGCAGTGAGGCGGT GGGCGGGGCCCGGGGCAGACGCAGTGAGGCGGTGGGCGGGGCCCGGGGCA GACGCAGTGAGGCGGTGGGAGGGGCCCGGGGCAGACGCAGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	125	0.0080	393	c.19 others(404): Show c.1956_*1957insGCGGTGGGCGGGGCCCGGGGCAGACGCAGTGAGG CGGTGGGCGGGGCCGGGGTAGTCGCAGTAGGTGGTGGGCGGGGCCCGGGG CAGACGCAGTGAGGTGGCGGGCGGGGCCCGGGGCAGACGCAGTGAGGCGG TGGGAGGGGCCCGGGGCAGACGCAGTGAGGCGGTGGGCGGGGCCCGGGGC AGAGGCAGCGGGTGGTGGGCGGGGCCCGGGGCAGACGCAGTGAGGCGGTG GGCGGGGCCCGGGGCAGACGCAGTGAGGCGGTGGGAGGGGCCCGGGGCAG ACGCAGTGAGGCGGTGGGCGGGGCCCGGGGCAGACGCAGTGAGGCGGTGG GCGGGGCCCGGGGCAGACGCAGTGAGGCGGTGGGAGGGGCCCGGGGCAGA CGCAGTGAG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		922		chr21	TogoVar
CPNE7_chr16_89570758_89602246	89587977	C C	CCCGTGTC others(386): Show CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCC ACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGC CCCCGTGTCACCCGCGTGTTACCCACAGATACACGGCCCCCCGTGTCACC CGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTTACCC ACAGAAACACGGCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCA CCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTTAC CCACAGAAACACGGCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGT CACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0141 a0002c0003t0003g0141	1	272	0.0037	393	c.928 others(408): Show c.928-697_928-696insCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGT CACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTTACCCACAGATAC ACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGT GTCACCCGCGTGTTACCCACAGAAACACGGCCCCCGTGTTACCCACAGAT ACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCC GTGTCACCCGCGTGTTACCCACAGAAACACGGCCCCCGTGTTACCCACAG ATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCC CCGTGTCACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588206	G G	GCGTGTCA others(386): Show GCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCA CAGATACACGGCCCCCCGTGTTACCCGCGTGTCACCCACAGATACACGGC CCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCCGTGTCAC CCGCGTGTCACCCACAGATACATGGCCCCCCGTGTCACCCGCGTGTCACC CACAGAAACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACG GCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCAC CCACAGATACATGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAACAC GGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0270 a0001c0002t0002g0270	1	232	0.0043	393	c.928 others(408): Show c.928-442_928-441insCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCCGTGTTACCCGCGTGTCACCCACAGATACACGGCCCCCCGTG TCACCCGCGTGTCACCCACAGAAACACGGCCCCCCGTGTCACCCGCGTGT CACCCACAGATACATGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAA CACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGT GTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAT ACATGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCC GTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAG ATACACGGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTDP1_chr18_79674803_79759503	79685046	T T	TGCGGTGC others(386): Show TGCGGTGCCCCTTACGGGGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGA CCTCGTGGTCTCTAGTCCCGGTTTCTCTGCGGTGCTCCTTACGGGGTGTG AGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGTGGTCTCTACTCCCGG TTTCTCTGCGGTGCCCCTTACAGGGTGTGAGGTCCTGGTGAGGAGGACGG TGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCCGCGGTGCTCCTTAC GGGGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGTGGTCTCT ACTCCCAGTTTCTCTGCGGTGCCCCTTACAGGGTGTGAGGTCCTGGTGAG GAGGACGGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03516.hp1 HG02922.hp2 HG03516.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0003 a0001c0017t0003	a0001c0017t0003g0020 a0001c0017t0003g0021 a0001c0017t0003g0020 a0001c0017t0003g0021	2	348	0.0057	393	c.314 others(410): Show c.314+4792_314+4793insCCCTTACGGGGTGTGAGGTCCTGGTGAG GATCAGTGCAGGGACCTCGTGGTCTCTAGTCCCGGTTTCTCTGCGGTGCT CCTTACGGGGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGTG GTCTCTACTCCCGGTTTCTCTGCGGTGCCCCTTACAGGGTGTGAGGTCCT GGTGAGGAGGACGGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCC GCGGTGCTCCTTACGGGGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGGG ACCTCGTGGTCTCTACTCCCAGTTTCTCTGCGGTGCCCCTTACAGGGTGT GAGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGTGGTCTCTACTCCCG GTTTCTCCGCGGTGC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC2_chr6_24166755_24363059	24238178	G G	GAGGGAGG others(386): Show GAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAA TGGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGG GGAGGGGGAGGGGAGTGGAAGGGTGAGGGGAGGGGGAGGGGAGTGGAAGG GGGAGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGGGAGGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGGAGG GGAGGGGGAGGGGAAGGGGAGGGGGGAGGGGGAGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0107 a0002c0002t0003g0107	1	197	0.0051	393	c.923 others(412): Show c.923-33077_923-33076insTCCCCTCCCCCTCCCCCTCCCCCCTC CCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCCCCCTC CCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCACCCTT CCACTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATT CCTCCCTCCCTCCCTCCATTCCTTCCTCCCTCCCTCCCTTCATTCCTCCC TCCCTCCCTTCCTCCCT	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DDX51_chr12_132131594_132149319	132149004	C C	CACACCAC others(386): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCC CTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0010 a0006c0008t0001g0010	1	321	0.0031	393	c.-47 others(404): Show c.-4709_-4708insCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGT GTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTA TGAGCGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTG AGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGG CGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCAC TCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCCGCACTCACCG AGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGA TTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGG GTGTGGTGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4686		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149006	T T	TACCACAC others(386): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCCTACCACACCCCTAATCCCCTTGGTGAGTGCCGCCGCCTC ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	188	0.0053	393	c.-47 others(404): Show c.-4711_-4710insGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TGGTGTGAGTGAGGCGGCGGCACTCACCAAGGGGATTAGGGGTGTGGTAG GAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGA GGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGC ACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCAC CGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGG GATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAG GGGTGTGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4688		chr12	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(386): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGGGA GTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	164	0.0061	393	c.-42 others(404): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTG GGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGGTGAGGGAGTCGG GGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DGKH_chr13_42043648_42247896	42197252	C C	CAAAAAAA others(386): Show CAAAAAAAAAAAAAATACACCATGGAATACTATGCAGCCATAAAAAATGA TGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTC TCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTC ATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATAT CACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATT GGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAG CATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTAC CCTAAAACTTAGAGTATAATAAATTAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0050 a0001c0003t0050	a0001c0003t0050g0311 a0001c0003t0050g0311	1	149	0.0067	393	c.216 others(412): Show c.2168-1212_2168-1211insTACACCATGGAATACTATGCAGCCAT AAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAA CCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATA TTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAA GGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGG GATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCA GCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTG CACATGTACCCTAAAACTTAGAGTATAATAAATTAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DIP2C_chr10_269201_694668	608555	C C	CCCCACAC others(386): Show CCCCACACACACACCCCCCCCCCACACACACCCCCCCCCACACACACACC CCCCCCCACACACACACACGCCCCCCCCACACACACGCCCCCCCCACACA CACGCCCCCCCCACACACACGCCCCCCCCACACACACGCCCCCCCACACA CACATGCCCCCCCCACACACACACACATCCCCCCCCACACACACACATCC CCCCCCACACACACACATCCCCCCCCACACACACACATCCCCCCCCACAC ACACACATCCCCCCCACACACACACATCCCCCCCACACACACACATCCCC CCCACACACACACATCCCCCCCACACACACACATCCCCCCCCACACACAC ACATCCCCCCCCACACACACACATCCCCCCCCACACACACACAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	54	0.0185	393	c.85+ others(410): Show c.85+80938_85+80939insATGTGTGTGTGTGGGGGGGGATGTGTGT GTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGG GATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTG TGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGAT GTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGT GTGGGGGGGGCATGTGTGTGTGGGGGGGCGTGTGTGTGGGGGGGGCGTGT GTGTGGGGGGGGCGTGTGTGTGGGGGGGGCGTGTGTGTGGGGGGGGCGTG TGTGTGTGTGGGGGGGGGTGTGTGTGTGGGGGGGGGTGTGTGTGGGGGGG GGGTGTGTGTGTGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1695210	C C	CCTACAGA others(386): Show CCTACAGAAAGAGGGGCACAGCCATGACCGGCCCTACAGAAACAGGGGGC ACAGCCATGCCCGGCCCTGCAGAAAGAGGGGGCACAGTCATGCCCGGCCC TACAGAAAGGGGGCACAGCCATGCCTGGCCCTACAGAAAGAGGGGGCACA GCCATGCCCGGCCCTACAGAAAGAGGGGGCACAGCCTTACCCGGCCCTAC AGAAAGAGGGGGCACAGCCATGTCCGGCCCTACAGAAAGAGGGTGCACAG CCATGCCTGGCACTACAGAAAGAGGGGGCACAGCCATGCCCGGCCCTACA GAAAGAGGGGGCACAGCCTTACCCGGCCCTACAGAAAGAGGGGGCACAGC CATGTCCGGCCCTACAGAAAGAGGGTGCACAGCCATGCCTGGCA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03492.hp1 HG02647.hp2 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0007 a0002c0001t0002 a0002c0001t0007	a0002c0001t0002g0013 a0002c0001t0007g0038 a0002c0001t0002g0013 a0002c0001t0007g0038	2	40	0.0500	393	c.279 others(412): Show c.2797-1870_2797-1869insGCAGAAAGAGGGGGCACAGTCATGCC CGGCCCTACAGAAAGGGGGCACAGCCATGCCTGGCCCTACAGAAAGAGGG GGCACAGCCATGCCCGGCCCTACAGAAAGAGGGGGCACAGCCTTACCCGG CCCTACAGAAAGAGGGGGCACAGCCATGTCCGGCCCTACAGAAAGAGGGT GCACAGCCATGCCTGGCACTACAGAAAGAGGGGGCACAGCCATGCCCGGC CCTACAGAAAGAGGGGGCACAGCCTTACCCGGCCCTACAGAAAGAGGGGG CACAGCCATGTCCGGCCCTACAGAAAGAGGGTGCACAGCCATGCCTGGCA CTACAGAAAGAGGGGCACAGCCATGACCGGCCCTACAGAAACAGGGGGCA CAGCCATGCCCGGCCCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH8_chr6_38710311_39035792	38964350	G G	GGACGGGG others(386): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCG GACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGACGGCTGGCCGGGCAGG GGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGG GGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA19003.hp1 NA19086.hp1 HG02074.hp1 NA19003.hp1 NA19086.hp1	a0005 a0005	a0005c0005 a0005c0023 a0005c0005 a0005c0023	a0005c0005t0001 a0005c0023t0001 a0005c0005t0001 a0005c0023t0001	a0005c0005t0001g0068 a0005c0005t0001g0203 a0005c0023t0001g0134 a0005c0005t0001g0068 a0005c0005t0001g0203 a0005c0023t0001g0134	3	4	0.7500	393	c.124 others(414): Show c.12452-7241_12452-7240insACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGACGGCTGGCCGGGCAGGGGGCCGACCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCTGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCG	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	82/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOCK8_chr9_209865_470255	400715	A A	ACCACCAC others(386): Show ACCACCACCTCCACCATCACCACCAGCTCCACCATCACCACCACCTCCAC CACCACCAGCTCCACCATCACCACCATCTTCACCATCACCACCACCACCT CCTCCACCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATC ACCACAACATCCACCACCACCATCACCACCACCACCACCACCTCCACCAC CACCACCTCCTCCACCATCACCACCAGCTCCACCACCACCACCTCCTCCA CCACCACCACCTCCTCCACCACCACCACCTCCTCCACCACCACCACCACC TCCCCCACTACCAACAGCTCCTTCACCATCAACACAATATCCACCACCAC CATCACCACCACCTCCACCACCACCTCCTCCACCACCACCACCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0038 a0038	a0038c0166 a0038c0166	a0038c0166t0018 a0038c0166t0018	a0038c0166t0018g0001 a0038c0166t0018g0001	1	247	0.0040	393	c.323 others(412): Show c.3234+1456_3234+1457insCCACCACCTCCACCATCACCACCAGC TCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATCACCACCAT CTTCACCATCACCACCACCACCTCCTCCACCACCACCACCACCTCCCCCA CTACCAACAGCTCCTTCACCATCACCACAACATCCACCACCACCATCACC ACCACCACCACCACCTCCACCACCACCACCTCCTCCACCATCACCACCAG CTCCACCACCACCACCTCCTCCACCACCACCACCTCCTCCACCACCACCA CCTCCTCCACCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACC ATCAACACAATATCCACCACCACCATCACCACCACCTCCACCACCACCTC CTCCACCACCACCACCT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47			chr9	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(386): Show ATATATACTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTATA TATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATA TAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATAGTATATATATATAGTATATAT ATAGTATATATATAGTATATATATATAGTATATATATAGTATATATATAT AGTGTATATATATAGTATATATATATAGTGTATATATATAGTATATATAT AGTATATATATAGTATATATAGTATATATGTATATATATATAGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0111 a0001c0002t0004g0111	1	169	0.0059	393	c.355 others(412): Show c.355-25704_355-25703insTATATACTATATATATAGTATATATA TAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATA TAGTATATATATATAGTATATATATAGTATATATATAGTATATATATATA GTATATATATAGTATATATATATAGTGTATATATATAGTATATATATATA GTGTATATATATAGTATATATATAGTATATATATAGTATATATAGTATAT ATGTATATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(386): Show ATATATATAGTATATATATATAGTATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAT AGTATATATATAGTATATATATATAGTATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATATAGTGTATATATATAGTA TATATATATAGTGTATATATATAGTATATATATAGTATATATATAGTATA TATAGTATATATGTATATATATATAGTATATATATAGTATATATATATAG TATATATATAGTATATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATAGTATATATATATAGTATATATATAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	248	0.0040	393	c.355 others(412): Show c.355-25620_355-25619insGTATATATATATAGTATATATATAGT ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATATAGTATATATATAGTATATATATATAGTATATATAT AGTATATATATAGTATATATATATAGTATATATATAGTATATATATATAG TGTATATATATAGTATATATATATAGTGTATATATATAGTATATATATAG TATATATATAGTATATATAGTATATATGTATATATATATAGTATATATAT AGTATATATATATAGTATATATATAGTATATATATATAGTATATATATAG TATATATATATAGTATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(386): Show ATATATATAGTATATATATATAGTATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAT AGTATATATATAGTATATATATATAGTATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATATAGTGTATATATATAGTA TATATATATAGTGTATATATATAGTGTATATATAGTATATATATAGTATA TATAGTATATATGTATATATATATAGTATATATATAGTATATATATATAG TATATATATAGTATATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATAGTATATATATATAGTATATATATAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0205 a0001c0001t0005g0205	1	248	0.0040	393	c.355 others(412): Show c.355-25620_355-25619insGTATATATATATAGTATATATATAGT ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATATAGTATATATATAGTATATATATATAGTATATATAT AGTATATATATAGTATATATATATAGTATATATATAGTATATATATATAG TGTATATATATAGTATATATATATAGTGTATATATATAGTGTATATATAG TATATATATAGTATATATAGTATATATGTATATATATATAGTATATATAT AGTATATATATATAGTATATATATAGTATATATATATAGTATATATATAG TATATATATATAGTATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
EML1_chr14_99788413_99947060	99927939	A A	ATGGTGGT others(386): Show ATGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGG TGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTG ATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0006 a0003c0002t0006	a0003c0002t0006g0099 a0003c0002t0006g0099	1	237	0.0042	393	c.190 others(412): Show c.1909+7071_1909+7072insAGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAA others(386): Show GTATATAAATATATATGTATGTATATTATATACATATAAATATATATATT TATATACATATAAATATATATTTACATACATATAAATATATATTTACATA CATATAAATATATATATTTATATACATATAATACATATACATATATACAT ATAAATATATATTTATATACATATAAATATATATATATACATATAAATAT ATATTTATATACATATAAATATATATATACATATAAATATATATATATTT ATATACATATAAAATATATATATTTATATATATATTTATATACATATAAA TATATAATTATATACATATAAATATATATAATTATATACATATAAATATA TATTTATATACATATAAATATATATATTTATATACATATAAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0005 a0005	a0005c0049 a0005c0049	a0005c0049t0001 a0005c0049t0001	a0005c0049t0001g0289 a0005c0049t0001g0289	1	28	0.0357	393	c.49 others(404): Show c.4960_*4961insAATTTATATGTATATAAATATATATATTTATATG TATATAAATATATATTTATATGTATATAATTATATATATTTATATGTATA TAATTATATATTTATATGTATATAAATATATATATAAATATATATATTTT ATATGTATATAAATATATATATATTTATATGTATATATATATTTATATGT ATATAAATATATATTTATATGTATATATATATATTTATATGTATATAAAT ATATATTTATATGTATATATGTATATGTATTATATGTATATAAATATATA TATTTATATGTATGTAAATATATATTTATATGTATGTAAATATATATTTA TATGTATATAAATATATATATTTATATGTATATAATATACATACATATAT ATTTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FOXJ3_chr1_42171548_42340235	42222046	G G	GAGAAGGA others(386): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGCA GGAGAAGAAGAAGCAGGAGAAGAAGAAGCAGGAGAAGAAGAAGCAGGAGA AGAAGAAGCAGGAGAAGAAGAAGCAGGAGAAGAAGAAGCAGGAGAAGAAG AAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCA GAAGAAGAAGAAGCAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGA AGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGCAGAAGAAGAAG CAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAA GAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	127	0.0079	393	c.528 others(410): Show c.528+5836_528+5837insTCTGCTTCTTCTTCTTCTGCTTCTTCTT CTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCT GCTTCTTCTTCTTCTGCTTCTTCTTCTGCTTCTTCTTCTGCTTCTTCTTC TTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTT CTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCT TCTTCTTCTTCTGCTTCTTCTTCTCCTGCTTCTTCTTCTCCTGCTTCTTC TTCTCCTGCTTCTTCTTCTCCTGCTTCTTCTTCTCCTGCTTCTTCTTCTC CTGCTTCTTCTTCTCCTGCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCT	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	5/12			chr1	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(386): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT TCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCC CCTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCTCCCCTTCCCCTCCT TCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCC TTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTT CCCCCTCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTCC TTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	102	0.0098	393	c.972 others(408): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCC CTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCT TCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTC CCCCTCCCTCCCCCTTCCCCCTCCCACCTTCCCTGTCCCCCTCCTTCCCC CTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCC CCTTCCCCCCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPC5_chr13_91393621_92872237	92347902	A A	ATATATAT others(386): Show ATATATATATTATATATTATAATATATATAATATATAATATATATATTAT ATATATAATATATATATTATATATATAATATATATATTATATATTATATA TATTATATATATAAAATATATAATATATAATATATATATTATATATATAA TATATATATTATATATATAATATATATAATATATAATATATATATAGTAT ATATAATATATATATTATATATTATATATTATATATATTATATATATAAT ATATATATTATATATATAATATATATATTATATATTATATATTATATATA TAATATATATATTATATATTATATATTATATATATAATATATATATTATA TATTATATATTATATATATAATATATATATTATATATTATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0035 a0005c0005t0002g0035	1	41	0.0244	393	c.156 others(416): Show c.1561+202922_1561+202923insTATATATTATAATATATATAAT ATATAATATATATATTATATATATAATATATATATTATATATATAATATA TATATTATATATTATATATATTATATATATAAAATATATAATATATAATA TATATATTATATATATAATATATATATTATATATATAATATATATAATAT ATAATATATATATAGTATATATAATATATATATTATATATTATATATTAT ATATATTATATATATAATATATATATTATATATATAATATATATATTATA TATTATATATTATATATATAATATATATATTATATATTATATATTATATA TATAATATATATATTATATATTATATATTATATATATAATATATATATTA TATATTATATATTATATATAT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
HCN2_chr19_584881_622159	602941	C C	CAGGCGCC others(386): Show CAGGCGCCTGGGGGGAAGGCACCGGCCTGAGCTGTGGGCACCCTTGCCCC CCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGAAGGCAC CAGCCTGAAGTGTGGGTGCCCCTCGCCCCCAGGGAGGAGTGCCCAGGGCT GGTCCTGCAGGCGCCTGGGGGGAAGGCACCAGCCTGAGGTGTGGGCACCC TCGCCCCCCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGGG AAGGCACCAGCCTGAGGTGTGGGCACCCTTGCCCCCCAGGGAGGAGTGCC CAGGGCTGGTCCTGCAGGCGCCTGGGGGGAAGGCACTGGCCTGAGGTGTG GGCACCCTCGTCCCCCAGGGAGGAATGCCCGGGGCTGGTCCCAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0018 a0001c0006t0002g0018	1	103	0.0097	393	c.633 others(408): Show c.633-560_633-559insTGCCCCCCAGGGAGGAATGCCCGGGGCTGG TCCCATAGGTGCCTGGGGGAAGGCACCAGCCTGAAGTGTGGGTGCCCCTC GCCCCCAGGGAGGAGTGCCCAGGGCTGGTCCTGCAGGCGCCTGGGGGGAA GGCACCAGCCTGAGGTGTGGGCACCCTCGCCCCCCAGGGAGGAATGCCCG GGGCTGGTCCCATAGGTGCCTGGGGGAAGGCACCAGCCTGAGGTGTGGGC ACCCTTGCCCCCCAGGGAGGAGTGCCCAGGGCTGGTCCTGCAGGCGCCTG GGGGGAAGGCACTGGCCTGAGGTGTGGGCACCCTCGTCCCCCAGGGAGGA ATGCCCGGGGCTGGTCCCATAGGCGCCTGGGGGGAAGGCACCGGCCTGAG CTGTGGGCACCCT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
IFNAR1_chr21_33319970_33364864	33323219	G G	GAATATAT others(386): Show GAATATATATATATGGAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATATATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATGGAATATATATATATGGAATATATATATATG GAATATATATATATGGAATATATATATGGAATGTATATATGGAATATATA TATGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGG AATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGT ATATGTGGAATGTATATGTGGAATGTATATATGTGGAATGTATATGTGGA ATGTATATATGGAATATATATATATGGAATATATATATATGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0116 a0003c0003t0009g0116	1	302	0.0033	393	c.-18 others(404): Show c.-1837_-1836insAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATATATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATGGAATATATATATATGGAATATATATATATG GAATATATATATATGGAATATATATATATGGAATATATATATGGAATGTA TATATGGAATATATATATGGAATGTATATATGTGGAATGTATATATGTGG AATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGT ATATATGTGGAATGTATATGTGGAATGTATATGTGGAATGTATATATGTG GAATGTATATGTGGAATGTATATATGGAATATATATATATGGAATATATA TATATGGAA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1750		chr21	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(386): Show AGGAAGGGAGGAGGGAGGAAGGGGAGGGAGGGAGGAGGGAGGAAGGGAGG AAGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAG GGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAG GAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGG AGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	154	0.0065	393	c.290 others(412): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTC CCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTT CCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCT CCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCT CCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCC CTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTCCCTCCCCTT CCTCCCTCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INSR_chr19_7107265_7299414	7153485	G G	GCCACACA others(386): Show GCCACACAACGGACCACACATACACCACACACCACAAACACAACCACACA CACACTATACACACACACCACACACACCACACAACAGACCACACATACAC ACACCACACACCACAAACACACACCATACACACACACCACACATACCACA CACACCACACACACAACCACACACACACACCACACACACAACACACAACA GACCACACATACACACACCACACATACCACACACACACCACACATACCAC ACACACACCACACACACAACCACACACACCACACCATACACACAACCACA CACACACCATACACGCACCACACACACACCACATACACACTTCACACACA CCACACACCACACAAATCACACACACCACCACACCCACGCCACA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01123.hp1 HG01346.hp1 HG01106.hp1 HG01123.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0022 a0001c0025 a0001c0001 a0001c0022 a0001c0025	a0001c0001t0015 a0001c0022t0003 a0001c0025t0163 a0001c0001t0015 a0001c0022t0003 a0001c0025t0163	a0001c0001t0015g0131 a0001c0022t0003g0123 a0001c0025t0163g0291 a0001c0001t0015g0131 a0001c0022t0003g0123 a0001c0025t0163g0291	3	293	0.0102	393	c.203 others(410): Show c.2030-559_2030-558insTGTGGCGTGGGTGTGGTGGTGTGTGTGA TTTGTGTGGTGTGTGGTGTGTGTGAAGTGTGTATGTGGTGTGTGTGTGGT GCGTGTATGGTGTGTGTGTGGTTGTGTGTATGGTGTGGTGTGTGTGGTTG TGTGTGTGGTGTGTGTGTGGTATGTGTGGTGTGTGTGTGGTATGTGTGGT GTGTGTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTGTGTGG TTGTGTGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGTGTGT TTGTGGTGTGTGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGTGTGGT GTGTGTGTATAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTATGTG TGGTCCGTTGTGTGG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(386): Show TAAGAAAAAAAGAAAAGAAAAGAAAAGAATAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0134 a0002c0003t0001g0134	1	233	0.0043	393	c.127 others(412): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTATTCTTTTCTTT TCTTTTCTTTTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
KCNK2_chr1_215077737_215242090	215209559	T T	TATATATA others(386): Show TATATATAAAATATATATAATATATATATAAAATAGATATTATATATAAA ATATATAAAATAGATATATATAAAATATATAAAATAGATATTATATATAA AATATATATAATATATATATAAAATAGATATTATATATAATATATATCAT ATTATATAAAATATATATTATATATTATATAATATATAATATATATTATA TATATTATATATTAAATATATATTTTATATATAAAATATATATAAAATAT ATATTATATATAAAATATATATAAAATATATATAAAATATATATTATATA TAAAATATATATAAAATATATATTATATATAAAATATATAAAATATATAA AATATATAATATATATAAAATATATATTATATATAAAATATATA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0121 a0001c0001t0045g0121	1	201	0.0050	393	c.963 others(412): Show c.963+14474_963+14475insAAATATATATAATATATATATAAAAT AGATATTATATATAAAATATATAAAATAGATATATATAAAATATATAAAA TAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTAT ATATAATATATATCATATTATATAAAATATATATTATATATTATATAATA TATAATATATATTATATATATTATATATTAAATATATATTTTATATATAA AATATATATAAAATATATATTATATATAAAATATATATAAAATATATATA AAATATATATTATATATAAAATATATATAAAATATATATTATATATAAAA TATATAAAATATATAAAATATATAATATATATAAAATATATATTATATAT AAAATATATAATATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHPP_chr10_124456823_124619141	124507259	G G	GGGTAGGG others(386): Show GGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGTATTTCAGGTGGGGG GGTAGGGAGGATTTCAGATGTGGAGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGTGTGGGGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGTGGA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	219	0.0046	393	c.624 others(410): Show c.624+9133_624+9134insTAGGGAGGATTTCAGGTGAGGGGGGTAG GGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGATGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGAC AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGA GGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGGGGGTAGACAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGG ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGACAGGA TTTCAGGTGTGGAGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LIMK2_chr22_31207298_31285080	31226471	G G	GGAATTAC others(386): Show GGAATTACAGGCGTGAACCACTGTGCCCAGCCAAGAGTTGTTTTTAGTGT GGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATGCCTCCCTAGGTTCCT ACTTTTTGTTACTAGCTTTATTATAGCTATATTATTATTATTATTATTAT TATTATTATTATTATTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGTG TACAGTGGTGCGATCCCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAG CAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGACTACAGGCGCCTGCC ACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTT GTTGACCAGGCTGGTCTCGAGCTCCTGACCTCAGGTAAGTGCTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02922.hp2 HG02451.hp1 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0319 a0001c0004t0001g0320 a0001c0004t0001g0319 a0001c0004t0001g0320	2	55	0.0364	393	c.116 others(408): Show c.116+656_116+657insTACAGGCGTGAACCACTGTGCCCAGCCAAG AGTTGTTTTTAGTGTGGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATG CCTCCCTAGGTTCCTACTTTTTGTTACTAGCTTTATTATAGCTATATTAT TATTATTATTATTATTATTATTATTATTATTGAGACAGAGTCTCGCTCTG TCGCCCAGGCTGGTGTACAGTGGTGCGATCCCGGCTCACTGCAACCTCTG CCTCCCGAGTTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGA CTACAGGCGCCTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTGACCAGGCTGGTCTCGAGCTCCTGACCTCAGG TAAGTGCTAGAAT	LIMK2	ENSG00000182541.18	transcript	ENST00000331728.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
LIMK2_chr22_31207298_31285080	31226471	G G	GGAATTAC others(386): Show GGAATTACAGGCGTGAACCACTGTGCCCAGCCAAGAGTTGTTTTTAGTGT GGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATGCCTCCCTAGGTTCCT ACTTTTTGTTACTAGCTTTATTATAGCTATATTATTATTATTATTATTAT TATTATTATTATTATTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGTG TACAGTGGTGCGATCCCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAG CAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGACTACAGGCGCCTGCC ACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTT GTTGACCAGGCTGGTCTGGAGCTCCTGACCTCAGGTAAGTGCTA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00741.hp2 others(65): Show HG00558.hp1 HG00558.hp2 HG00741.hp2 HG01074.hp2 HG01168.hp1 HG01169.hp1 HG01346.hp2 HG01496.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02132.hp1 HG02135.hp2 HG02165.hp2 HG02630.hp2 HG02965.hp1 HG03098.hp2 HG04204.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp2 NA18977.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18994.hp1 NA19000.hp2 NA19001.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0001t0016 a0001c0011t0023	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0028 others(63): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0270 a0001c0001t0002g0341 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0006g0064 a0001c0001t0006g0073 a0001c0001t0014g0079 a0001c0001t0016g0052 a0001c0011t0023g0162	68	121	0.5620	393	c.116 others(408): Show c.116+656_116+657insTACAGGCGTGAACCACTGTGCCCAGCCAAG AGTTGTTTTTAGTGTGGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATG CCTCCCTAGGTTCCTACTTTTTGTTACTAGCTTTATTATAGCTATATTAT TATTATTATTATTATTATTATTATTATTATTGAGACAGAGTCTCGCTCTG TCGCCCAGGCTGGTGTACAGTGGTGCGATCCCGGCTCACTGCAACCTCTG CCTCCCGAGTTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGA CTACAGGCGCCTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTGACCAGGCTGGTCTGGAGCTCCTGACCTCAGG TAAGTGCTAGAAT	LIMK2	ENSG00000182541.18	transcript	ENST00000331728.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
LIMK2_chr22_31207298_31285080	31226471	G G	GGAATTAC others(386): Show GGAATTACAGGCGTGAACCACTGTGCCCAGCCAAGAGTTGTTTTTAGTGT GGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATGCCTCCCTAGGTTCCT ACTTTTTGTTACTAGCTTTATTATAGCTATATTATTATTATTATTATTAT TATTATTATTATTATTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGTG TACAGTGGTGCGATCCCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAG CAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGACTACAGGCGCCTGCC ACCACACCCGGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCTT GTTGACCAGGCTGGTCCCGAGCTCCTGACCTCAGGTAAGTGCTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp2 HG02559.hp1 others(1): Show HG01243.hp2 HG02257.hp2 HG02559.hp1 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0007 a0002c0002t0001g0339 a0002c0002t0001g0340	4	57	0.0702	393	c.116 others(408): Show c.116+656_116+657insTACAGGCGTGAACCACTGTGCCCAGCCAAG AGTTGTTTTTAGTGTGGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATG CCTCCCTAGGTTCCTACTTTTTGTTACTAGCTTTATTATAGCTATATTAT TATTATTATTATTATTATTATTATTATTATTGAGACAGAGTCTCGCTCTG TCGCCCAGGCTGGTGTACAGTGGTGCGATCCCGGCTCACTGCAACCTCTG CCTCCCGAGTTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGA CTACAGGCGCCTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGGAG ACGGGGTTTCACCTTGTTGACCAGGCTGGTCCCGAGCTCCTGACCTCAGG TAAGTGCTAGAAT	LIMK2	ENSG00000182541.18	transcript	ENST00000331728.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
LIMK2_chr22_31207298_31285080	31226471	G G	GGAATTAC others(386): Show GGAATTACAGGCGTGAACCACTGTGCCCAGCCAAGAGTTGTTTTTAGTGT GGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATGCCTCCCTAGGTTCCT ACTTTTTGTTACTAGCTTTATTATAGCTATATTATTATTATTATTATTAT TATTATTATTATTATTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGTG TACAGTGGTGCGATCCCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAG CAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGACTACAGGCGCCTGCC ACCACACCCGGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCTT GTTGACCAGGCTGGTCTCGAGCTCCTGACCTCAGGTAAGTGCTA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0220 a0002c0002t0001g0220	1	54	0.0185	393	c.116 others(408): Show c.116+656_116+657insTACAGGCGTGAACCACTGTGCCCAGCCAAG AGTTGTTTTTAGTGTGGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATG CCTCCCTAGGTTCCTACTTTTTGTTACTAGCTTTATTATAGCTATATTAT TATTATTATTATTATTATTATTATTATTATTGAGACAGAGTCTCGCTCTG TCGCCCAGGCTGGTGTACAGTGGTGCGATCCCGGCTCACTGCAACCTCTG CCTCCCGAGTTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGA CTACAGGCGCCTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGGAG ACGGGGTTTCACCTTGTTGACCAGGCTGGTCTCGAGCTCCTGACCTCAGG TAAGTGCTAGAAT	LIMK2	ENSG00000182541.18	transcript	ENST00000331728.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
LIMK2_chr22_31207298_31285080	31226471	G G	GGAATTAC others(386): Show GGAATTACAGGCGTGAACCACTGTGCCCAGCCAAGAGTTGTTTTTAGTGT GGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATGCCTCCCTAGGTTCCT ACTTTTTGTTGCTAGCTTTATTATAGCTATATTATTATTATTATTATTAT TATTATTATTATTATTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGTG TACAGTGGTGCGATCCCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAG CAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGACTACAGGCGCCTGCC ACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTT GTTGACCAGGCTGGTCTCGAGCTCCTGACCTCAGGTAAGTGCTA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0321 a0001c0004t0019g0321	1	54	0.0185	393	c.116 others(408): Show c.116+656_116+657insTACAGGCGTGAACCACTGTGCCCAGCCAAG AGTTGTTTTTAGTGTGGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATG CCTCCCTAGGTTCCTACTTTTTGTTGCTAGCTTTATTATAGCTATATTAT TATTATTATTATTATTATTATTATTATTATTGAGACAGAGTCTCGCTCTG TCGCCCAGGCTGGTGTACAGTGGTGCGATCCCGGCTCACTGCAACCTCTG CCTCCCGAGTTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGA CTACAGGCGCCTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTGACCAGGCTGGTCTCGAGCTCCTGACCTCAGG TAAGTGCTAGAAT	LIMK2	ENSG00000182541.18	transcript	ENST00000331728.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
LRRC14_chr8_144512992_144530172	144513791	C C	CGTGGGGA others(386): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGGTGGGGAGTGA GGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCTGTGGGCG GTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTC GGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTG AGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGGTGGGCGGTGGGGGGAGTGAGGAGG GGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	303	0.0033	393	c.-43 others(404): Show c.-4362_-4361insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGG GGTCGGCTGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGT GGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAG GGGTCGGCGGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGGTGGGCGGTG GGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCG GCGTGGGCG	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4200		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(386): Show TGAGGAGGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGG GCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGGAGTGAGGAGG GGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGG AGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTG GGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGG GGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGT GGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	220	0.0045	393	c.-43 others(404): Show c.-4353_-4352insGAGGAGGGGGTCGGCGTGGGCAGTGGGGAGTGAG GAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGT GGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCG GCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGA GGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGG TGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGGTC GGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAG AGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCG GTGGGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4191		chr8	TogoVar
LRRC23_chr12_6899822_6919229	6909135	T T	TATATAAT others(386): Show TATATAATATATAATATATAATATATATTTATTAATAATATATATAATAT ATATATTTATTTATATATATATTATTATATGTATATAAATATATATATTT ATTAATATATATAAATATATATATTTATTAATAATATATATAATATATAT ATAATATATAATATATAATATATAATATATATTTATATATAATATATAAT ATATAATATATAATATATAATATATATTATATATAATATATTATATATAA TATATTATATATAATTATATATAATATATAATTATATATTATATATAATT ATATAATATATAATATATATATTATTATATATATAATAATATATATATAA TATATAATTATACATAATATATAATATATAATTATAATATATAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0069 a0002c0002t0002g0069	1	270	0.0037	393	c.622 others(408): Show c.622-755_622-754insATATAATATATAATATATAATATATATTTA TTAATAATATATATAATATATATATTTATTTATATATATATTATTATATG TATATAAATATATATATTTATTAATATATATAAATATATATATTTATTAA TAATATATATAATATATATATAATATATAATATATAATATATAATATATA TTTATATATAATATATAATATATAATATATAATATATAATATATATTATA TATAATATATTATATATAATATATTATATATAATTATATATAATATATAA TTATATATTATATATAATTATATAATATATAATATATATATTATTATATA TATAATAATATATATATAATATATAATTATACATAATATATAATATATAA TTATAATATATAA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LRRC27_chr10_132327193_132386508	132352028	C C	CCTCCGTG others(386): Show CCTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGGGCAGGCGCAGGTG CAGCGCTCCGTGTGGGGCAGATGCTGAGGCCTCCGTGTGGGGCAGGCGCT GAGGCCTCCGTGTGGGGCAGGCACTGAGGCCTCCGTGTGGGGCAGGTGCA GCGCTCGTGGTCTGCAGGGCGTTGCGTGCATGGGCTCCCTTGTTTGTAGC CCCGAGGCCTCCGTGTGGGGCAGGCGCAGGTGCAGCGCTCCGTGTGGGGC AGGCGCTGAGGCCTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGGGC AGGTGCAGCGCTCGTGGTCTGCAGGGCGTTGCGTGCATGGGCTCCCTTGT TTGTAGCCCCGAGGCCTCCGTGTGGGGCAGGCGCAGGTGCAGCG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0279 a0001c0001t0021g0279	1	288	0.0035	393	c.107 others(410): Show c.1073+396_1073+397insACTGAGGCCTCCGTGTGGGGCAGGTGCA GCGCTCGTGGTCTGCAGGGCGTTGCGTGCATGGGCTCCCTTGTTTGTAGC CCCGAGGCCTCCGTGTGGGGCAGGCGCAGGTGCAGCGCTCCGTGTGGGGC AGGCGCTGAGGCCTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGGGC AGGTGCAGCGCTCGTGGTCTGCAGGGCGTTGCGTGCATGGGCTCCCTTGT TTGTAGCCCCGAGGCCTCCGTGTGGGGCAGGCGCAGGTGCAGCGCTCCGT GTGGGGCAGGCGCTGAGGCCTCCGTGTGGGGCAGGCGCAGGTGCAGCGCT CCGTGTGGGGCAGATGCTGAGGCCTCCGTGTGGGGCAGGCGCTGAGGCCT CCGTGTGGGGCAGGC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAGI1_chr3_65348526_66043918	65855620	A A	AGAGAGGG others(386): Show AGAGAGGGGAGGGGACGGGGGAGGAGAGAGGGGAGGGGACAGGGAAGGGG AAAGGGGAGGGTAGAGGGCAGGAGAGAGTGAAGGGGAGGGGGAGGGAAGA GGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGG GGAGGGGACAGGGGAGGGGAGGGGAGAGGGGAGGGGACAGGGGAGGGGAG GGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGG GAGAAGGGAGGGGAGAGGGGAGGGGAGAGGGGAGAGGGGAGAGGAAGGGA GAGGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGA GGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0041 a0002c0002t0002g0041	1	16	0.0625	393	c.313 others(414): Show c.313+182375_313+182376insCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTCCC CTCCCCTCTCCCCTCCCCTCTCCCTTCCTCTCCCCTCTCCCCTCTCCCCT CCCCTCTCCCCTCCCTTCTCCCCTCCCTTCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTGTCCCCTCCCCTCTCCCC TCCCCTCCCCTGTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTC CCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCCTCCCCTTCACTCTCTCC TGCCCTCTACCCTCCCCTTTCCCCTTCCCTGTCCCCTCCCCTCTCTCCTC CCCCGTCCCCTCCCCTCTC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65855620	A A	AGAGAGGG others(386): Show AGAGAGGGGAGGGGACGGGGGAGGAGAGAGGGGAGGGGACAGGGAAGGGG AAAGGGGAGGGTAGAGGGCAGGAGAGAGTGAAGGGGAGGGGGAGGGAAGA GGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGG GGAGGGGACAGGGGAGGGGAGGGGAGAGGGGAGGGGACAGGGGAGGGGAG GGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGG GAGAAGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGGGGAGAGGG GAGAGGAAGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGA GGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01496.hp2 HG01952.hp1 others(4): Show HG01192.hp2 HG01496.hp2 HG01952.hp1 HG02559.hp2 HG02698.hp2 HG03041.hp2 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0003c0003t0002	a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0045 others(4): Show a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0086 a0001c0005t0001g0043 a0002c0002t0001g0023 a0003c0003t0002g0020	7	22	0.3182	393	c.313 others(414): Show c.313+182375_313+182376insCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTCCCCTCCCCTCTCCC CTCCCCTCTCCCTTCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCT CCCTTCTCCCCTCCCTTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTGTCCCCTCCCCTCTCCCC TCCCCTCCCCTGTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTC CCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCCTCCCCTTCACTCTCTCC TGCCCTCTACCCTCCCCTTTCCCCTTCCCTGTCCCCTCCCCTCTCTCCTC CCCCGTCCCCTCCCCTCTC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65855620	A A	AGAGAGGG others(386): Show AGAGAGGGGAGGGGACGGGGGAGGAGAGAGGGGAGGGGACAGGGCAGGGG AAAGGGGAGGGTAGAGGGCAGGAGAGAGTGAAGGGGAGGGGGAGGGAAGA GGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAAG GGAGGGGACAGGGGAGGGGACAGGGGAGGGGAGGGGAGAGGGGAGGGGAC AGGGGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGG GAGAAGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGGGGAGAGGG GAGAGGAAGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGA GGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0080 a0003c0003t0002g0080	1	16	0.0625	393	c.313 others(414): Show c.313+182375_313+182376insCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTCCCCTCCCCTCTCCC CTCCCCTCTCCCTTCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCT CCCTTCTCCCCTCCCTTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCCCCTGTCCCCTCCCCTCTCCCCTCCCCTCCCCTG TCCCCTCCCCTGTCCCCTCCCTTCTCCCCTCCCCTCTCCCCTCCCTTCTC CCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCCTCCCCTTCACTCTCTCC TGCCCTCTACCCTCCCCTTTCCCCTGCCCTGTCCCCTCCCCTCTCTCCTC CCCCGTCCCCTCCCCTCTC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65855620	A A	AGAGAGGG others(386): Show AGAGAGGGGAGGGGACGGGGGAGGAGAGAGGGGAGGGGACAGGGCAGGGG AAAGGGGAGGGTAGAGGGCAGGAGAGAGTGAAGGGGAGGGGGAGGGAAGA GGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGG GGAGGGGACAGGGGAGGGGACAGGGGAGGGGAGGGGAGAGGGGAGGGGAC AGGGGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGG GAGAAGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGGGGAGAGGG GAGAGGAAGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGA GGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0073 a0004c0004t0001g0073	1	16	0.0625	393	c.313 others(414): Show c.313+182375_313+182376insCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTCCCCTCCCCTCTCCC CTCCCCTCTCCCTTCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCT CCCTTCTCCCCTCCCTTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCCCCTGTCCCCTCCCCTCTCCCCTCCCCTCCCCTG TCCCCTCCCCTGTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTC CCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCCTCCCCTTCACTCTCTCC TGCCCTCTACCCTCCCCTTTCCCCTGCCCTGTCCCCTCCCCTCTCTCCTC CCCCGTCCCCTCCCCTCTC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65855620	A A	AGAGAGGG others(386): Show AGAGAGGGGAGGGGACGGGGGAGGAGAGAGGGGAGGGGACAGGGCAGGGG AAAGGGGAGGGTAGAGGGCAGGAGAGAGTGAAGGGGAGGGGGAGGGAAGA GGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGG GGAGGGGACAGGGGAGGGGACAGGGGAGGGGAGGGGAGAGGGGAGGGGAC AGGGGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGG GAGAAGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGGGGAGAGGG GAGAGGAAGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGA GGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	16	0.0625	393	c.313 others(414): Show c.313+182375_313+182376insCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCCCCTCTCCCTTCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCT CCCTTCTCCCCTCCCTTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCCCCTGTCCCCTCCCCTCTCCCCTCCCCTCCCCTG TCCCCTCCCCTGTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTC CCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCCTCCCCTTCACTCTCTCC TGCCCTCTACCCTCCCCTTTCCCCTGCCCTGTCCCCTCCCCTCTCTCCTC CCCCGTCCCCTCCCCTCTC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65855633	G G	GACGGGGG others(386): Show GACGGGGGAGGAGAGAGGGGAGGGGACAGGGCAGGGGAAAGGGGAGGGTA GAGGGCAGGAGAGAGTGAAGGGGAGGGGGAGGGAAGAGGGGAGGGGAGAG GGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGG GAGGGGACAGGGGAGGGGAGGGGAAAGGGGAGGGGACAGGGGAGGGGAGG GGAGAGGGGAGGGGACAGGGGAGGGGACAGGGGAGGGGAGGGGAGAGGGG AGAGGGGAGGGGAGAGGGGAGAGGGGAGAGGAAGGGAGAGGGGAGAGGGG AGAGGAAGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGAG GGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01071.hp2 HG01167.hp2 others(7): Show HG00735.hp1 HG01071.hp2 HG01167.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG02040.hp1 HG02145.hp2 HG02698.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0034 others(7): Show a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0082 a0001c0001t0002g0024 a0001c0001t0002g0047 a0002c0002t0001g0060 a0002c0002t0001g0083	10	98	0.1020	393	c.313 others(414): Show c.313+182362_313+182363insACCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTCCCCTCCCCTCTCC CCTCCCCTCTCCCTTCCTCTCCCCTCTCCCCTCTCCCTTCCTCTCCCCTC TCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCTGTCCCCTC CCCTGTCCCCTCCCCTCTCCCCTCCCCTCCCCTGTCCCCTCCCCTTTCCC CTCCCCTCCCCTGTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCTTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCCTCCC CTTCACTCTCTCCTGCCCTCTACCCTCCCCTTTCCCCTGCCCTGTCCCCT CCCCTCTCTCCTCCCCCGT	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAN2B2_chr4_6570189_6628362	6579325	C C	CCACCATC others(386): Show CCACCATCACCACCATCACCACCATCACCACCACCACCATCACCACCACC ATCACCATCACCACCACCACCACCACCATCACCATCACCACCACCACCAC CACCACCACCATCACCATCACCACCACCACCATCACCACCATCACCACCA CCACCACCACCACCATCACCACCACCACCATCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCA CCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACC ATCACCACCACCACCATCACCACCATCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0064 a0001c0064	a0001c0064t0001 a0001c0064t0001	a0001c0064t0001g0225 a0001c0064t0001g0225	1	255	0.0039	393	c.391 others(408): Show c.391+832_391+833insTCACCACCATCACCACCATCACCACCACCA CCATCACCACCACCATCACCATCACCACCACCACCACCACCATCACCATC ACCACCACCACCACCACCACCACCATCACCATCACCACCACCACCATCAC CACCATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCAT CACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCA CCACCACCATCACCATCACCACCACCACCATCACCACCATCACCACCACC ACCACCATCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MSH4_chr1_75791882_75918242	75906518	T T	TTGTATAT others(386): Show TTGTATATATTATATATAATATATACAATATTGTATATATTATATATAAT ATATACAATATTGTATATATTATATATAATATATACAATATTGTATATAT TATATATAATATATACAATATTTATATATATTATATATATTATATATAAT ATATACATATTATATATTATATATAATATATATACATATTATATATTATA TATATAATATATATACATATTATATATTATATATAATATATATACATATT ATATATTATATATATAATATATATACATATTATATATTATATATAATATA TATACATATTATATATAATATATATACATATTATATTATATATAATATAT ATACATATTATATATAATATATAATATATTACATATTATATATA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19070.hp2 NA18982.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0256 a0001c0001t0001g0204 a0001c0001t0001g0256	2	39	0.0513	393	c.262 others(412): Show c.2620-6178_2620-6177insTGTATATATTATATATAATATATACA ATATTGTATATATTATATATAATATATACAATATTGTATATATTATATAT AATATATACAATATTGTATATATTATATATAATATATACAATATTTATAT ATATTATATATATTATATATAATATATACATATTATATATTATATATAAT ATATATACATATTATATATTATATATATAATATATATACATATTATATAT TATATATAATATATATACATATTATATATTATATATATAATATATATACA TATTATATATTATATATAATATATATACATATTATATATAATATATATAC ATATTATATTATATATAATATATATACATATTATATATAATATATAATAT ATTACATATTATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MYDGF_chr19_4652545_4675342	4663119	T T	TCATCCTC others(386): Show TCATCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCGTCCTGTCCT CATTCTACACAGCCTCCAATCTACCCTCCCCATCCACCCCGTCCTCATTC TACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCC TCCAATCTACCCTCCCCACCCGTCCTGTCCTCATTCTACACAGCCTCCAA TCTACCCTCCCCATCCACCCCGTCCTCATTCTACAGCCTTCAATCTACCC TCCCCACCCACCCCATCCTCATTCTACAGCCTCCAATCTACCCTCCCCAC CCGTCCTGTCCTCATTCTACACAGCCTCCAATCTACCCTCCCCATCCACC CCGTCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCACCC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0082 a0002c0002t0002g0082	1	363	0.0028	393	c.287 others(410): Show c.287+1756_287+1757insGGGTGGGTGGGGAGGGTAGATTGGAGGC TGTAGAATGAGGACGGGGTGGATGGGGAGGGTAGATTGGAGGCTGTGTAG AATGAGGACAGGACGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGG ATGGGGTGGGTGGGGAGGGTAGATTGAAGGCTGTAGAATGAGGACGGGGT GGATGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGACAGGACGGGTG GGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGGTGGGTGGGGAGGG TAGATTGGAGGCTGTAGAATGAGGACGGGGTGGATGGGGAGGGTAGATTG GAGGCTGTGTAGAATGAGGACAGGACGGGTGGGGAGGGTAGATTGGAGGC TGTAGAATGAGGATG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar

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