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
DBNDD1_chr16_89999871_90024456	90003741	G G	GGGCCACC others(653): Show GGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCC GGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCT CCCCTGGCCCGGGCTACCTTTACGTGCACGTGGGGTGGGACTTCTGTAAC TCCCTCCCCTGGCCCAGGCCACCTTTACGTGCACGTGGGGCGGGACTTCT GTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGA CTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGG CGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACG TGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGT GCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCTACCTT TACGTGCACGTGGGGTGGGACTTCTGTAACTCCCTCCCCTGGCCCAGGCC ACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCC GGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCT GGCCCGGGCTACCTTTACGTGCACGTGGGGTGGGACTTCTGTAACTCCCT CCCCTGGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0162 a0001c0001t0005g0162	1	409	0.0024	660	c.25 others(671): Show c.2593_*2594insTGGGCCAGGGGAGGGAGTTACAGAAGTCCCACCC CACGTGCACGTAAAGGTAGCCCGGGCCAGGGGAGGGAGTCACAGAAGTCC CGCCCCACGTGCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCACAGA AGTCCCGCCCCACGTGCACGTAAAGGTGGCCTGGGCCAGGGGAGGGAGTT ACAGAAGTCCCACCCCACGTGCACGTAAAGGTAGCCCGGGCCAGGGGAGG GAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCCGGGCCGGG GGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCCGGG CCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGC CCGGGCCGGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAG GTGGCCCGGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACG TAAAGGTGGCCTGGGCCAGGGGAGGGAGTTACAGAAGTCCCACCCCACGT GCACGTAAAGGTAGCCCGGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCC CACGTGCACGTAAAGGTGGCCCGGGCCGGGGGAGGGAGTCACAGAAGTCC CGCCCCACGTGCACGTAAAGGTGGCC	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1129		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003876	C C	CGGGACTT others(653): Show CGGGACTTCTGTGACTCCCTCCCCTGGCCTGGGCCACCTTTACGTGCACG TGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCTGGGCCACCTTTACGT GCACGTGGGGCGGGACTTCTGTAACTCCCTCCCCTGGCCCAGGCCACCTT TACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCCAGCCTGGGCC ACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCC GGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTTTGACTCCCTCCCCT GGCCCGGGCCACCTTTACGTGCACGTGGGGTGGGACTTCTGTGACTCCCT CCCCTGCCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGAC TCCCTCCCCCGGCCTGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCT GTGACTCCCTCCCCTGGCCTGGGCCACCTTTACGTGCACGTGGGGCGGGA CTTCTGTGACTCCCTCCCCTGGCCTGGGCCACCTTTACGTGCACGTGGGG CGGGACTTCTGTAACTCCCTCCCCTGGCCCAGGCCACCTTTACGTGCACG TGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCTACCTTTACAT GCACGTGCGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0173 a0001c0001t0001g0030 a0001c0001t0001g0173	2	330	0.0061	660	c.24 others(671): Show c.2458_*2459insACCGCACGTGCATGTAAAGGTAGCCCGGGCCGGG GGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCTGGG CCAGGGGAGGGAGTTACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGC CCAGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAG GTGGCCCAGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACG TAAAGGTGGCCCAGGCCGGGGGAGGGAGTCACAGAAGTCCCGCCCCACGT GCACGTAAAGGTGGCCCGGGGCAGGGGAGGGAGTCACAGAAGTCCCACCC CACGTGCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCAAAGAAGTCC CGCCCCACGTGCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCACAGA AGTCCCGCCCCACGTGCACGTAAAGGTGGCCCAGGCTGGGGGAGGGAGTC ACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCTGGGCCAGGGGAGG GAGTTACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCCAGGCCAGG GGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCCAGG CCAGGGGAGGGAGTCACAGAAGTCCC	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		994		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003900	C C	CGGCCCGG others(653): Show CGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCC TCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGTGGGACTTCTGTGA CTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGTGGGACTTC TGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGG ACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGG GTGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCAC GTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACG TGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCTACCT TTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGC CACCTTTACGTGCACGTGGGGCGGGACTTCTATGACTCCCTCCCCCGGCC CGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCC TGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCC TCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGA CTCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	209	0.0048	660	c.24 others(671): Show c.2434_*2435insAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTG CACGTAAAGGTGGCCCGGGCCGGGGGAGGGAGTCACAGAAGTCCCGCCCC ACGTGCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCACAGAAGTCCC GCCCCACGTGCACGTAAAGGTGGCCCGGGCCGGGGGAGGGAGTCATAGAA GTCCCGCCCCACGTGCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCA CAGAAGTCCCGCCCCACGTGCACGTAAAGGTAGCCCGGGCCAGGGGAGGG AGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCCGGGCCGGGG GAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCCGGGC CAGGGGAGGGAGTCACAGAAGTCCCACCCCACGTGCACGTAAAGGTGGCC CGGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGG TGGCCCGGGCCGGGGGAGGGAGTCACAGAAGTCCCACCCCACGTGCACGT AAAGGTGGCCCGGGCCAGGGGAGGGAGTCACAGAAGTCCCACCCCACGTG CACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCCC ACGTGCACGTAAAGGTGGCCCGGGCC	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		970		chr16	TogoVar
DCDC2C_chr2_3698575_3853008	3725478	A A	AGAGGAAG others(653): Show AGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGG AGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGA GCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAG AGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAG GAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCT GCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGG TGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATC CCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAG GAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGAC GAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAG AGAGGGAGGAGGCTGCCAGGTGGATCCTGGAGGGAGATGAGCAGAGAGGG AGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCAGGTGGATCCTGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCC GGTGGATCCCG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0014 a0001c0002t0005g0014	1	277	0.0036	660	c.340 others(677): Show c.340-1482_340-1481insGGAGGGAGACGAGCAGAGAGGGAGGAGG CTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCC GGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGA TCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGG AGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAG ACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGC AGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAG GGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGA GGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGC CCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTG GATCCTGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCC GGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCTGGAGGG AGATGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGA GCAGAGAGGGAGGAGGCTGCCCGGTGGATCCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCLK2_chr4_150073445_150262438	150251056	T T	TCCCCCAC others(653): Show TCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCTC ACACCCCCCAACACCCCCACACACCCCCCACACCACACATCCCCCACACC CCCACACACCCCCCACACCACACATCCCCCACACCCCCACACATCCCCCA CACCCCCACATCCCCCACACCCCCATCCCCCACATCCCCCACACCCCCCA CACCCCCCACATCCCCACACCCCCCACATCCCCCACACCCCCATCCCCCA CATCCCCCACACACCCCCACATCCCCCCACACCCCCCACACCCCCCACAC CACACATCCCCCACACCCCCAAATCCCCCACACCCCCCACACCCCCACAC ACCCCCCACATCCCCCACACCTCCCACACCCCCACACACCCCCCACACCA CACATCCCCCACATCCCCCACACCCCCCACACCCCCCACACCACAAATCC CCCACATCCCCCACACCCACACACACCCCCCACACCACAAATCCCCCACA CCCCCCACATCCCCCACACCCCCACACACCCCCCACACCACACATCCCCC ACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCA CCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACA CCCCCACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	38	0.0263	660	c.207 others(679): Show c.2073+1382_2073+1383insCCCCACACCCCCACACACCCCCCACA CCACACATCCCTCACACCCCCCAACACCCCCACACACCCCCCACACCACA CATCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCC CACACATCCCCCACACCCCCACATCCCCCACACCCCCATCCCCCACATCC CCCACACCCCCCACACCCCCCACATCCCCACACCCCCCACATCCCCCACA CCCCCATCCCCCACATCCCCCACACACCCCCACATCCCCCCACACCCCCC ACACCCCCCACACCACACATCCCCCACACCCCCAAATCCCCCACACCCCC CACACCCCCACACACCCCCCACATCCCCCACACCTCCCACACCCCCACAC ACCCCCCACACCACACATCCCCCACATCCCCCACACCCCCCACACCCCCC ACACCACAAATCCCCCACATCCCCCACACCCACACACACCCCCCACACCA CAAATCCCCCACACCCCCCACATCCCCCACACCCCCACACACCCCCCACA CCACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACAC ATCCCTCACACCACCCACACCCCCACACACCCCCCACACCACACATCCCC CACACCCCCCACACCCCCACACACCCCCCACACC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DDX51_chr12_132131594_132149319	132149181	A A	ATACCACA others(653): Show ATACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTACCA CACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGG TGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCGGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGC TCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0005 a0002c0032t0005	a0002c0032t0005g0085 a0002c0032t0005g0085	1	312	0.0032	660	c.-48 others(671): Show c.-4886_-4885insGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAG GGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGT GGTGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTG AGCGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAG GCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCG GCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCACTC ACCGAGGGGATTAGGGGTGTGGTATGAGCGAGGCGGCCGCACTCACCGAG GGGATTAGGGGTGTGGTGTGAGCGAGGCGGCCGCACTCACCGAGGGGATT AGGGGTGTGGTATGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGT GTGGTGTGAGCGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTA GGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTG AGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTATGAGCGAGGCGG CCGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCCGCAC TCACCGAGGGGATTAGGGGTGTGGTA	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4863		chr12	TogoVar
DIRAS1_chr19_2709567_2726372	2713317	C C	CCACCTCC others(653): Show CCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCATCACCT CCTCCACCCTTCATCCCATCCGTCACTGTCTACACCGATCACCTCCTCCA CCCTTCACCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTC ATCCCATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCACCCCA TCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCACCCCATACCTC ACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATTCCTCACTTCC TACACCCACCACCTCCTCCACCCTTCCTCCCATCCCTCACTTCCTCCACC CATCACCTCCTCCATCCTTCATCCCATCCCTCACTTCCTACACCCATCGC CTCCTCCACCCTTCACCCCATACCTCACTTCCTACACCCATCACCTCCTC CACCCTTCACCCCATACCTCACTTCCTACACCCACCACCTCCTCCACCCT TCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCC CATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCC TCACTTCCTACACCCATCACCTCCTCCACCCTTCATCCCATCCGTCACTG TCTACACCGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	366	0.0027	660	c.38 others(671): Show c.3892_*3893insATCGGTGTAGACAGTGACGGATGGGATGAAGGGT GGAGGAGGTGATGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGA GGTGGTGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGTGGT GGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGGTGGGTGT AGGAAGTGAGGTATGGGGTGAAGGGTGGAGGAGGTGATGGGTGTAGGAAG TGAGGTATGGGGTGAAGGGTGGAGGAGGCGATGGGTGTAGGAAGTGAGGG ATGGGATGAAGGATGGAGGAGGTGATGGGTGGAGGAAGTGAGGGATGGGA GGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGGTGAAGG GTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGTATGGGGTGAAGGGTGGAG GAGGTGATGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGTG ATGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGT GTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGTGATCGGTGTAGAC AGTGACGGATGGGATGAAGGGTGGAGGAGGTGATGGGTGTAGGAAGTGAG GGATGGGATGAAGGGTGGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1249		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713578	G G	GCACCACC others(653): Show GCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCA CCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCT CCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCC TTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATC CCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCC CTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACT TCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTAC ACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCAC CACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCGTCACCTC CTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCAC CCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCA TCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCAT CCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCA CTTCCTACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	73	0.0137	660	c.36 others(671): Show c.3631_*3632insGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGA GGAGGTGACGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGT GGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGG TGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGG AAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGA GGGATGGGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATG GGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGA AGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTG GAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAG GTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACG GGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTA GGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGT GAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGA TGGGATGAAGGGTGGAGGGGGTGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		988		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713578	G G	GCACCACC others(653): Show GCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCA CCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCT CCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCC TTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATC CCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCC CTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACT TCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTAC ACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCAC CACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTC CTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCAC CCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCA TCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCAT CCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCA CTTCCTACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	73	0.0137	660	c.36 others(671): Show c.3631_*3632insGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGA GGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGT GGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGG TGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGG AAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGA GGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATG GGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGA AGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTG GAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAG GTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACG GGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTA GGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGT GAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGA TGGGATGAAGGGTGGAGGGGGTGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		988		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713713	T T	TCACCTCC others(653): Show TCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCT CCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCA CCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTC ATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCA TTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCCCTC ACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCC TACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACC CACCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCATCAC CTCCTCCACCCTTCACACCATCCCTCACTTCCTACACCCACCACCTCCTC CACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCT TCATCCCATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCATCC CATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCCC TCACTTCCTACACCCATCACCTCCTCCACCCTTCATCCCATCCCTCACTT CCTACACCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	241	0.0041	660	c.34 others(671): Show c.3496_*3497insGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGT GGAGGAGGTGATGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGA GGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGAT GGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGT AGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAG TGAGGGATGGTGTGAAGGGTGGAGGAGGTGATGGGTGTAGGAAGTGAGGG ATGGGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGA TGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGG GTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAG GAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTG GTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGT GTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGA AGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAG GGATGGGATGAAGGGTGGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		853		chr19	TogoVar
DISP3_chr1_11474155_11542551	11522727	G G	GACCCAGC others(653): Show GACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGA GCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGC GAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGAC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCC AGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACC CAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCA GAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAAAGCCCAGCCAGGACCC AGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGAGCCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGG ACCCAGCCAGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0004 a0004	a0004c0028 a0004c0028	a0004c0028t0012 a0004c0028t0012	a0004c0028t0012g0047 a0004c0028t0012g0047	1	347	0.0029	660	c.236 others(679): Show c.2363-1215_2363-1214insACCCAGCCAGAGCCCAGCCAGGGCCC AGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCA GCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGG ACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGGG CCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGC CCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCC AGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACC CAGCCAAAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCA GGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAAGACCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DOC2B_chr17_137789_186650	141114	T T	TGAGGGGA others(653): Show TGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAAC ATGGGTGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACCTGGGGGGGAC CTTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAG GGGACCTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTG AGGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTG GTGAGGGGAACATGGGTGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA TGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGAC CTTGGTGAGGGGACCTGGTGAGGAGGACCTGGGGGGGACCTTGGTGAGGG GACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAGGGGACCTGGTG AGGGGACCTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGG TGAGGGGACCTGGTGAGGGGAACATGGGGGGGACCTTGGTGAGGAGGACC TGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGG AACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGA GGGGACATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0277 a0001c0002t0016g0277	1	336	0.0030	660	c.63 others(671): Show c.6326_*6327insCCCATGTCCCCTCACCAGGTCCCCTCACCAGGTC CCCTCACCAAGGCTCCCCACCCATGTTCCCCTCACCAGGTCCTCCTCACC AAGGTCCCACCCATGTTCCCCTCACCAGGTCCTCCTCACCAAGGTCCCCC CCATGTTCCCCTCACCAGGTCCCCTCACCAAGGTCCCACCCATGTTCCCC TCACCAGGTCCCCTCACCAGGTCCCCTCACCAGGTCCCCTCACCAGGTCC TCCTCACCATGCTCCCCTCACCATGTCCCCTCACCAAGGTCCCCCCCAGG TCCTCCTCACCAGGTCCCCTCACCAAGGTCCCACCCATGTTCCCCTCACC AGGTCCTCCTCACCAAGGTCCCCCCCATGTCCCCTCACCAGGTCCCCTCA CCAAGGTCCCACCCATGTTCCCCTCACCAGGTCCTCCTCACCAAGGTCCC ACCCATGTTCCCCTCACCAGGTCCCCTCACCAAGGTCCCACCCATGTTCC CCTCACCAGGTCCCCTCACCAGGTCCCCTCACCAGGTCCTCCTCACCATG CTCCCCTCACCATGTCCCCTCACCAAGGTCCCCCCCAGGTCCTCCTCACC AGGTCCCCTCACCAAGGTCCCACCCATGTTCCCCTCACCAGGTCCTCCTC ACCAAGGTCCCACCCATGTTCCCCTC	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		1674		chr17	TogoVar
EXD3_chr9_137301896_137428162	137328271	A A	ACCTACAT others(653): Show ACCTACATGATGCGTAAAAACAACGAACAAACACCCACGTGATGAGTAAA AACAACTAATATACACCCATATCATGAGTAAAAACAACTAATATACTCCC ATATGATGAGTAAAAACAACTAATATACACCCACATGATGAGTAAAAACA ACGAATAAACACCCACATGATGAGTAAAAACAATGAATATACACCCACAT GAGTAAAAACAACTAATATACTCCCATATGACGAGTAAAAACAACGAATA TACACCCACATGATGAGTAAAAACAACAAACACCCACATGATGAGTAAAA ACAACTAATATACTCCCACATGATGAGTAAAAACAACTAATATACTCCCA TATGATGAGTAAAAACAACTAATATACACCCACATGATGAGTAAAACAAC TAATATACTCCCATATAATGAGTAAAACAACTAATATACTCCCATATGAT GAGTAAAAACAATGAATATACACCCACATGATGAGTAAAAACAACTAATA TACTCCCATATGATGAGTAAAAACAACAAGTACACACCCACATGATGAGT AAAAACAACTAATATACTCCCATATGATGAGTAAAAACAAGTACACACCC ACATGATGAGTAAAAACAACTAATATACACCAATATGATGAGTAAAAACA ACTAATATACT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0078	1	66	0.0152	660	c.199 others(679): Show c.1999-4129_1999-4128insAGTATATTAGTTGTTTTTACTCATCA TATTGGTGTATATTAGTTGTTTTTACTCATCATGTGGGTGTGTACTTGTT TTTACTCATCATATGGGAGTATATTAGTTGTTTTTACTCATCATGTGGGT GTGTACTTGTTGTTTTTACTCATCATATGGGAGTATATTAGTTGTTTTTA CTCATCATGTGGGTGTATATTCATTGTTTTTACTCATCATATGGGAGTAT ATTAGTTGTTTTACTCATTATATGGGAGTATATTAGTTGTTTTACTCATC ATGTGGGTGTATATTAGTTGTTTTTACTCATCATATGGGAGTATATTAGT TGTTTTTACTCATCATGTGGGAGTATATTAGTTGTTTTTACTCATCATGT GGGTGTTTGTTGTTTTTACTCATCATGTGGGTGTATATTCGTTGTTTTTA CTCGTCATATGGGAGTATATTAGTTGTTTTTACTCATGTGGGTGTATATT CATTGTTTTTACTCATCATGTGGGTGTTTATTCGTTGTTTTTACTCATCA TGTGGGTGTATATTAGTTGTTTTTACTCATCATATGGGAGTATATTAGTT GTTTTTACTCATGATATGGGTGTATATTAGTTGTTTTTACTCATCACGTG GGTGTTTGTTCGTTGTTTTTACGCATCATGTAGG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(653): Show TAATATATATATGGAATATATACGGAATATATATATAATATATATGGAAT ATATATATACGGAATATATATAATATATATACGGAATATATATATACGGA ATATATATAATATATATACGGAATATATATATAATATATATATAATATAT ATACGGAATATATATATAATATATAAATGGAATATATATACGGAATATAT ATATAATATATAAATGGAATATATATATACGGAATATATATATAATATAT AAATGGAATATATATATACGGAATATATATATAATATATATATGGAATAT ATATATACGGAATATATATATAATATATATATGGAATATATATATACGGA ATATATATATAATATATATATGGAATATATATATACGGAATATATATATT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATACGGAATATATATATATGGATATATATACGGAATATATATAT ATGGAATATATATATATGGAATGTGTATATATGGAATATATATATATGGA ATGTGTATATATGGAATATATATATATGGAATGTGTATATATGGAATATA TATATGGAATGTGTATATATGGAATATATATATGGAATATATATATGGAA TATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	62	0.0161	660	c.-21 others(671): Show c.-2147_-2146insAATATATATATGGAATATATACGGAATATATATA TAATATATATGGAATATATATATACGGAATATATATAATATATATACGGA ATATATATATACGGAATATATATAATATATATACGGAATATATATATAAT ATATATATAATATATATACGGAATATATATATAATATATAAATGGAATAT ATATACGGAATATATATATAATATATAAATGGAATATATATATACGGAAT ATATATATAATATATAAATGGAATATATATATACGGAATATATATATAAT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATATACGGAATATATATATAATATATATATGGAATATATATATA CGGAATATATATATTATATATATGGAATATATATATACGGAATATATATA TAATATATATATGGAATATATATACGGAATATATATATATGGATATATAT ACGGAATATATATATATGGAATATATATATATGGAATGTGTATATATGGA ATATATATATATGGAATGTGTATATATGGAATATATATATATGGAATGTG TATATATGGAATATATATATGGAATGTGTATATATGGAATATATATATGG AATATATATATGGAATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(653): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGC TCAGGAGGGGAGGTTAGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAG GCGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTTAGGACTCAG GAGGGAGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGGTGGGG GCTCAGGAGGGGAGGTAGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGG AGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGG GGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCT CAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAG GCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGG GGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGG CTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGA GGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGG GGGGAGGCGGG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0003 a0004c0011t0003	a0004c0011t0003g0046 a0004c0011t0003g0046	1	100	0.0100	660	c.623 others(677): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCGGGGC TCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTTAGGACTCAGGAGGGAG AGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGCTCAGG AGGGGAGGTTAGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCGGG GCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTAGGACTCAGGAGGGA GAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGA GGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGG CTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGG CGGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGG AGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGG GGCTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGA GGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTG GAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406194	T T	TGTGTCAC others(653): Show TGTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCC TCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCG TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTTTGTCACTGAGTGGACC TCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCC TCAGGCCTTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	274	0.0036	660	c.63 others(669): Show c.639_*640insTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCC ACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAG AGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATG TCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGCC TAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAG GAAGCCTAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGG CCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACTGAA GGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACAAACACAC ACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAA ACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAG TGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCC ACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAG AGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATG TCACAGAGGTCCACTCAGTGACAC	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	639		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406362	T T	TGTGTCAC others(653): Show TGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTTGTCTTCCTCAGGC CTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAG GCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTT CCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCT AGGCTTCCTCAGGACTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTCGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTCGGCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCC TCAGGCCTTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0105 a0001c0001t0105	a0001c0001t0105g0187 a0001c0001t0105g0187	1	274	0.0036	660	c.47 others(669): Show c.471_*472insTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCC ACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACTAGATGTCACAG AGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGCCGAGATG TCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGAC GAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAG GAAGCCGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGG CCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACAAACACACAC TGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACAAAC ACACATTGAAGTCCTGAGGAAGCCTAGATGTCACAGAGGTCCACTCAGTG ACAAACACACATTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCAC TCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAG GTCCACTCAGTGACACACACTGAAGGCCTGAGGAAGACAAGATGTCACAG AGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACTAGATG TCACAGAGGTCCACTCAGTGACAC	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	471		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406510	T T	TCTTCCTC others(653): Show TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTC ACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAG TGTGTGTCACTGAGTGGACCTCTGTGACATCTCGGCTTCCTCAGGCCTTC AGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCT TCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGGCTTCCTC AGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTC TTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACAT CTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTCGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0037 a0001c0001t0022g0037	1	236	0.0042	660	c.32 others(669): Show c.323_*324insCCGAGATGTCACAGAGGTCCACTCAGTGACAAACAC ACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGAC AAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTC AGTGACAAACACACACTGAAGGCCTGAGGAAGCCGAGATGTCACAGAGGT CCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCAC AGAGGTCCACTCAGTGACACACACTGAAGGCCTGAGGAAGCCGAGATGTC ACAGAGGTCCACTCAGTGACACACACTGAAGGCCTGAGGAAGCCTAGATG TCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGAC GAGATGTCACAGAGGTCCACTCAGTGACACACACTGAAGGCCTGAGGAAG CCTAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTG AGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAA GGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACAC ACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGTCCACTCAGTGACAA ACACACACTGAAGGCCTGAGGAAG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	323		chr2	TogoVar
KCNG2_chr18_79792938_79905100	79808551	G G	GAGCTGCC others(653): Show GAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCAGAGTCC TCGCCCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTATGGG CCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACGCTGACCACACTCC ACGTTACGGGCCCAGAGTCCGAGCTCTGAGGAGCTGCCGGGGCCGCGCTG ACCACACTCCACGTTACGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGG GGCCTCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAG GAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTACGGTCCCAGAGTCC TCGCCCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTATGGG CCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCC ACGTTATGGGCCCAGAGTCCTCGCCCTGAGGAGCTGCCGGGGCCTCGCTG ACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGG GGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAG GAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCAGAGTCC GCGCTCTGAGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02280.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0123 a0002c0002t0002g0122 a0002c0002t0001g0123 a0002c0002t0002g0122	2	277	0.0072	660	c.-11 others(681): Show c.-115+10548_-115+10549insCCTCGCTGACCACACTCCACGTTA TGGGCCCAGAGTCCTCGCCCTGAGGAGCTGCCGGGGCCGCGCTGACCACA CTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACAC GCTGACCACACTCCACGTTACGGGCCCAGAGTCCGAGCTCTGAGGAGCTG CCGGGGCCGCGCTGACCACACTCCACGTTACGGGCCCAGAGTCCGCGCTC TGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCAGA GTCCGCGCTCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTA CGGTCCCAGAGTCCTCGCCCTGAGGAGCTGCCGGGGCCGCGCTGACCACA CTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACAC ACTGACCACACTCCACGTTATGGGCCCAGAGTCCTCGCCCTGAGGAGCTG CCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTC TGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGA GTCCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTA TGGGCCCAGAGTCCGCGCTCTGAGAAGCTGCCGGGG	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNQ2_chr20_63395208_63477655	63442767	T T	TCACCACC others(653): Show TCACCACCATCACCATCACCATTACCACCACCATTACCACCACCATCACC ATCACCATCACCACCACCACCACCACCACCATCACCATCACCACCACCAC CACCATCACCACCACCACCATCACCACCACCACCACCATCACCACCACCA CCACCACCATCACCACCATCACCACCATCACCACCACCACCACCATCACC ACCATCACCATCACCACCATCACCATCACCACCATCACCATTACCACCAC CATTACCACCACCATCACCATCACCATCACCACCACCACCACCATCACCA TCACCACCACCATCACCATTATCACCACCACCATCACCACCATCACCACC ACCACCATCACCATCACCACCACCATCACCATTATCACCACCACCATCAC CACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATCA CCATTACCACCACCATTACCACCACCATCACCACCACCATCACCACCACC ATCACCACCACCATCACCATCACCACCACCACCATCACCACCACCACCAC CATCACCACCACCACCATCACCACCACCACCACCATCACCACCACCACCA CCACCATCACCACCATCACCACCATCACCACCACCACCACCATCACCACC ATCACCATCAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0209 a0001c0002t0023g0209	1	320	0.0031	660	c.691 others(675): Show c.691-237_691-236insGTGATGGTGATGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGGTG GTGATGGTGGTGGTAATGGTGGTGGTAATGGTGATGGTGATGGTGGTGGT GGTGATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGATAA TGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGATG GTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGT GGTGATGGTGATGGTGATGGTGGTGGTAATGGTGGTGGTAATGGTGATGG TGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGA TGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATG GTGGTGGTAATGGTGATGGTGATGGTGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KDM4B_chr19_4964113_5158598	5131563	A A	AGGCAGGG others(653): Show AGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGG GCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGC TGGTGGCGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAG GGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGG GCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGT GGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGC AGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTG GTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGG GGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGAGGGGGGC AGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGG GGCACAGGGGAGCTGGTGGCGGGGAGGGGGGCAGGGAGGAGGGGGGCAGG TGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTG GCGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0019 a0002c0005t0002g0019	1	162	0.0062	660	c.178 others(677): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGAG GGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGC AGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGG GGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGA GCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGG CAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGG GGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCA GGTGGGGCACAGGGGAGCTGGTGGCGGGGAGGGGGGCAGGGAGGAGGGGG GCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGC TGGTGGCGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAG GGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGG CAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTG GGGCACAGGGGAGCTGGTGGCGGGGGAGGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(653): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAG AGGAGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGG AGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGA GGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGG GGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGG AGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	5	0.2000	660	c.-46 others(671): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTC CTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCC TCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCT CCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTC TTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCT CCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTC TTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTC TCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCA CCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCT TTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTC TCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCT CCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KIAA0930_chr22_45187244_45245894	45229317	A A	ACCCCCGC others(653): Show ACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTTCACCCCCCAACCA CCACTCACCCGAAAGATCCCTCCCCATCCCCCCCCACCACTCACCCGAAA GATCCCTCTCCACCCCCACACCACCACTCACCCGAAAGATCCCTCTCCAC CCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCGCAACC ACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCCAACCACCACTCAC CCTAAAGATCCCTCCCCATCCCCCCCACCACCAAACACTCACCCGAAAGA TCCCTCCCCATCCCCCCCCACCACTCACCTGAGAGATCCCTCTCCACCCC CGCCATCACCACTCACCTGAGATCCCTCTCCACCCCCGCCATCACCACTC ACCTGAAAGATCCCTCTCCACCCCCCCACCACTAAACACTCACCCGAAAG ATCCCTCCCCATCCCCCCCCACCACTCACCTGAGAGATCCCTCTCCACCC CCGCCATCACCACTCACCTGAAAGATCCCTCTCCACCCCCCCACCACTAA ACACTCACCCGAAAGATCCCTCTCCATGCCCCCCCACCACCAAACACTCA CCTGAAAGATCCCTCTCCACCCCCCCACCACCAAACACTCACCTGAAAGA TCCCTCTCCAC	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0150 a0001c0004t0150	a0001c0004t0150g0062 a0001c0004t0150g0062	1	315	0.0032	660	c.64+ others(677): Show c.64+11322_64+11323insGTGGAGAGGGATCTTTCAGGTGAGTGTT TGGTGGTGGGGGGGTGGAGAGGGATCTTTCAGGTGAGTGTTTGGTGGTGG GGGGGCATGGAGAGGGATCTTTCGGGTGAGTGTTTAGTGGTGGGGGGGTG GAGAGGGATCTTTCAGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTC TCAGGTGAGTGGTGGGGGGGGATGGGGAGGGATCTTTCGGGTGAGTGTTT AGTGGTGGGGGGGTGGAGAGGGATCTTTCAGGTGAGTGGTGATGGCGGGG GTGGAGAGGGATCTCAGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCT CTCAGGTGAGTGGTGGGGGGGGATGGGGAGGGATCTTTCGGGTGAGTGTT TGGTGGTGGGGGGGATGGGGAGGGATCTTTAGGGTGAGTGGTGGTTGGGG GGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGCGGGGTGGAGAG GGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTC GGGTGAGTGGTGGTGTGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGG GGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAGA GGGATCTTTCGGGTGAGTGGTGATGGCGGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF1A_chr2_240708767_240825219	240780830	C C	CCACACAC others(653): Show CCACACACACACACACACACACAGCTCCACACACACACACAGCTCCACAC ACACACAGCTCCACACACACACACACACACAGCTCCACACACACACACAG CTCCACACACACACACACAGCTCCACACACACACAGCTCCACACACACAC ACAGCTACACACACACACAGCTACACACACACACACACACACAGCTACAC ACACACACAGCTCCACACACACACACACACACAGCTCCACACACACACAC AGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACAC ACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCC ACACACACACACAGCTCCACACACACACAGCTCCACACACACACACAGCT CCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACAC ACACAGCTCCACACACAGCTCCACACACACACACAGCTCCACACACACAC ACACAGCTCCACACACACACAGCTCCACACACACACACACACAGCTCCAC ACACACACACAGCTCCACACACACACACACACAGCTCCACACACACACAC AGCTCCACACACACACACACAGCTCCACACACAGCTCCACACACACACAC AGCTCCACACA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0035 a0001c0024t0035	a0001c0024t0035g0142 a0001c0024t0035g0142	1	282	0.0035	660	c.882 others(677): Show c.882+1759_882+1760insTGTGTGGAGCTGTGTGTGTGTGTGGAGC TGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGC TGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTG TGTGTGTGGAGCTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTG TGTGTGTGTGTGGAGCTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTG TGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTG GAGCTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTG TGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTG TGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGC TGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTAGCTGTGTGTGTG TGTGTGTGTGTAGCTGTGTGTGTGTGTAGCTGTGTGTGTGTGTGGAGCTG TGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGA GCTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGGAGCTGTGTGTGTGTGTGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF3B_chr20_32272651_32340011	32322672	T T	TTATATAT others(653): Show TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATTTATATATATTTATATATATATTT ATATATTTATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0071 a0001c0002t0004g0071	1	217	0.0046	660	c.174 others(679): Show c.1749-4092_1749-4091insATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATTTATATAT ATTTATATATATATTTATATATTTATATATATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(653): Show CAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGCT CCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGATG GAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTAA AATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACAA TTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGTT TTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAATT CCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTGA GAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCAG TGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATCA TCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCGT CTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGTA ATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAAG GTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGCA AGGCTCTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp1 NA18951.hp1 HG03491.hp1 HG03492.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0004g0065 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0004g0065	3	13	0.2308	660	c.52 others(671): Show c.5260_*5261insAGACAGAGCCTTGCTCTGGCTGGAATGCAGTGGT GTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGATTCTCC TGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGTGCCACCATGC CCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGACA GGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTTCGGCCTCCCA ACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCTACAACTTTTA TTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTTCCAACCATCT CCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGAACAAGTGCAA ATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTATCTTCTCTGT ATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATAACCTCGGCAT GTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAGTTCTAGCACT TTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTCCTAGTTCAGA CCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCATCTACCTCCA TCATCCACTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(653): Show CAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGCTC CAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGATGG AAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTAAA ATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACAAT TGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGTTT TGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAATTC CAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTGAG AAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCAGT GGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATCAT CTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCGTC TCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGTAA TCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAAGG TGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGCAA GGCTCTGTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp2 others(72): Show HG00140.hp1 HG00280.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp2 HG02486.hp1 HG02698.hp1 HG03017.hp1 HG03195.hp2 HG03491.hp2 HG03942.hp1 NA18612.hp1 NA18944.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18953.hp1 NA18957.hp2 NA18962.hp1 NA18971.hp1 NA18977.hp1 NA18978.hp2 NA18995.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19078.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19090.hp1 NA19240.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0002t0002	a0001c0001t0001g0190 a0001c0001t0002g0001 a0001c0001t0002g0009 others(61): Show a0001c0001t0001g0190 a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0222 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0002g0248 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0006g0219 a0001c0001t0006g0220 a0001c0001t0006g0223 a0001c0001t0006g0243 a0001c0001t0006g0249 a0001c0001t0007g0191 a0001c0001t0007g0196 a0001c0001t0007g0210 a0001c0001t0007g0233 a0001c0001t0009g0008 a0001c0001t0010g0209 a0001c0001t0011g0027 a0001c0001t0015g0215 a0001c0001t0016g0211 a0001c0001t0019g0207 a0001c0002t0002g0240	75	85	0.8824	660	c.52 others(671): Show c.5260_*5261insTAGACAGAGCCTTGCTCTGGCTGGAATGCAGTGG TGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGATTCTC CTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGTGCCACCATG CCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGAC AGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTTCGGCCTCCC AACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCTACAACTTTT ATTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTTCCAACCATC TCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGAACAAGTGCA AATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTATCTTCTCTG TATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATAACCTCGGCA TGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAGTTCTAGCAC TTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTCCTAGTTCAG ACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCATCTACCTCC ATCATCCACTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23982661	A A	AAAAAAAA others(653): Show AAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGCT CCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGATG GAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTAA AATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACAA TTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGTT TTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAATT CCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTGA GAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCAG TGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATCA TCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCGT CTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGTA ATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAAG GTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGCA AGGCTCTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01243.hp1 HG02056.hp1 others(3): Show HG00323.hp2 HG01243.hp1 HG02056.hp1 NA18947.hp2 NA18982.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0079 a0001c0001t0001g0129 a0001c0001t0003g0171 others(3): Show a0001c0001t0001g0079 a0001c0001t0001g0129 a0001c0001t0003g0171 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0004g0057	6	283	0.0212	660	c.52 others(671): Show c.5259_*5260insAGACAGAGCCTTGCTCTGGCTGGAATGCAGTGGT GTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGATTCTCC TGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGTGCCACCATGC CCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGACA GGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTTCGGCCTCCCA ACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCTACAACTTTTA TTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTTCCAACCATCT CCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGAACAAGTGCAA ATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTATCTTCTCTGT ATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATAACCTCGGCAT GTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAGTTCTAGCACT TTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTCCTAGTTCAGA CCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCATCTACCTCCA TCATCCACTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1058		chrX	TogoVar
KRT82_chr12_52388931_52411335	52409037	C C	CCTCCTCT others(653): Show CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CCTCTCCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0059 a0003c0003t0002g0059	1	354	0.0028	660	c.-27 others(671): Show c.-2761_-2760insTGAGGGAGAGGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2703		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(653): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCACTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCAC TCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	77	0.0130	660	c.-27 others(671): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGTGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRTAP21-2_chr21_30741794_30752259	30742422	G G	GCCAGAGC others(653): Show GCCAGAGCCATATCCACAACCATAGCCACAGCCAGTTCCATATCCAGAGC CGTATTGACAGCCAGAGCCACATCCACAGCCAGAGCCACATCCACAGCCA GAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCATATCCACAACCATA GCCAGAGCCAGAGCCATATCCACAGCCATAGCCACAGCCAGAGACATATC CACAGCCATAGCCAGAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCA GAGCCATATCCATAACCATAGCCACAGCCAGTTCCATATCCAGAGCTGTA TTGACAGCCAGAGCCATAGCCACAGCCAGAGCCATATCCACAACCATAGC CACAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCATATCCA TAACCATAGCCATAGCCAGTTCCATATCCAGAGCTGTATTGACAGCCAGA GCCATATCCACAGCCAGAGCCATATCCACAACCATAGCCACAGCCAGAGC CATATCCATAACCATAGCCACAGCCAGAGCCATATCCAAAGCCATAGCCA GAGCCAGAGCCATATCCACAGCCATAGCCAGATCCAGAGCCATATCCACA GCTATAGCCAGAGCCAGAGCCATATCCACAGCCACATCCACAGCCAGAGC CATATCCATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02922.hp2 HG03130.hp2 others(1): Show HG01884.hp2 HG02922.hp2 HG03130.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	378	0.0106	660	c.45 others(671): Show c.4528_*4529insTTATGGATATGGCTCTGGCTGTGGATGTGGCTGT GGATATGGCTCTGGCTCTGGCTATAGCTGTGGATATGGCTCTGGATCTGG CTATGGCTGTGGATATGGCTCTGGCTCTGGCTATGGCTTTGGATATGGCT CTGGCTGTGGCTATGGTTATGGATATGGCTCTGGCTGTGGCTATGGTTGT GGATATGGCTCTGGCTGTGGATATGGCTCTGGCTGTCAATACAGCTCTGG ATATGGAACTGGCTATGGCTATGGTTATGGATATGGCTCTGGCTCTGGCT ATGGCTGTGGATATGGCTCTGGCTGTGGCTATGGTTGTGGATATGGCTCT GGCTGTGGCTATGGCTCTGGCTGTCAATACAGCTCTGGATATGGAACTGG CTGTGGCTATGGTTATGGATATGGCTCTGGCTCTGGCTATGGCTGTGGAT ATGGCTCTGGCTCTGGCTATGGCTGTGGATATGTCTCTGGCTGTGGCTAT GGCTGTGGATATGGCTCTGGCTCTGGCTATGGTTGTGGATATGGCTCTGG CTCTGGCTATGGCTGTGGATATGGCTCTGGCTGTGGATGTGGCTCTGGCT GTGGATGTGGCTCTGGCTGTCAATACGGCTCTGGATATGGAACTGGCTGT GGCTATGGTTGTGGATATGGCTCTGG	KRTAP21-2	ENSG00000187026.3	transcript	ENST00000333892.3	protein_coding		4371		chr21	TogoVar
LGR6_chr1_202188799_202324761	202204775	C C	CACACACA others(653): Show CACACACACACCTCCAAACACACACACACCCCTAACACACACCTCCTCCA AACACAAACCTCCAAACACACACACACCTAACACACACCTCCTCCAAACA CACACACACTTCCAAACACACACACACCTCCAAACACACATACATCTCCA AACACACACACACCTAACACACGCACCTAACACACACTTCCTTCAAACAC ACACACCTCCAAAGACACACACACACCTAACACACACCTCCTTCAAACAC ACACACCTAACACACACCTCCTTCAAACACACACACACACCTCCAAACAC ACACACACCTAACACACACCTCCTTCAAACACACACACACCTCCAAACAC ACACACCTAACACACACCTCCTTCAAACACACACACACCTCTCCAAACAC ACACACACACCTAACACACCCCCCTTCAAACACACACACCTCTCCAAAAA CACACACACACCTAACACACACCTCCTTCAAACACACACACACCTCCAAA CACAAACACACCTAACACACCCCTCCTTCAAACACACACACCTCAAAACA CACACACCTCAAAACACACACACCTCCAAAAACACACACATACCTAACAC ACACCTCCTTCAAACACACACACCTCCAAACACACACACACCTAACACAC ACCTCTTTCAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0124 a0002c0002t0002g0140 a0002c0002t0002g0124 a0002c0002t0002g0140	2	5	0.4000	660	c.212 others(679): Show c.212+10584_212+10585insCTCCAAACACACACACACCCCTAACA CACACCTCCTCCAAACACAAACCTCCAAACACACACACACCTAACACACA CCTCCTCCAAACACACACACACTTCCAAACACACACACACCTCCAAACAC ACATACATCTCCAAACACACACACACCTAACACACGCACCTAACACACAC TTCCTTCAAACACACACACCTCCAAAGACACACACACACCTAACACACAC CTCCTTCAAACACACACACCTAACACACACCTCCTTCAAACACACACACA CACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACACACACA CACCTCCAAACACACACACCTAACACACACCTCCTTCAAACACACACACA CCTCTCCAAACACACACACACACCTAACACACCCCCCTTCAAACACACAC ACCTCTCCAAAAACACACACACACCTAACACACACCTCCTTCAAACACAC ACACACCTCCAAACACAAACACACCTAACACACCCCTCCTTCAAACACAC ACACCTCAAAACACACACACCTCAAAACACACACACCTCCAAAAACACAC ACATACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACACAC ACACCTAACACACACCTCTTTCAAACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGR6_chr1_202188799_202324761	202204775	C C	CACACACA others(653): Show CACACACACACCTCCAAACACACACACACCCCTAACACACACCTCCTCCA AACACAAACCTCCAAACACACACACACCTCCAAACACACACACACCTAAC ACACACCTCCTCCAAACACACACACACTTCCAAACACACACACACCTCCA AACACACATACATCTCCAAACACACACACACCTAACACACGCACCTAACA CACACTTCCTTCAAACACACACACCTCCAAAGACACACACACACCTAACA CACACCTCCTTCAAACACACACACCTAACACACACCTCCTTCAAACACAC ACACACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACAC ACACACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACACAC ACACACCTCTCCAAACACACACACACCTAACACACCCCCCTTCAAACACA CACACCTCTCCAAAAACACACACACACCTAACACACACCTCCTTCAAACA CACACACACCTCCAAACACAAACACACCTAACACACCCCTCCTTCAAACA CACACACCTCAAAACACACACACCTCCAAAAACACACACATACCTAACAC ACACCTCCTTCAAACACACACACCTCCAAACACACACACACCTAACACAC ACCTCTCTCAA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0058 a0002c0002t0003g0058	1	4	0.2500	660	c.212 others(679): Show c.212+10584_212+10585insCTCCAAACACACACACACCCCTAACA CACACCTCCTCCAAACACAAACCTCCAAACACACACACACCTCCAAACAC ACACACACCTAACACACACCTCCTCCAAACACACACACACTTCCAAACAC ACACACACCTCCAAACACACATACATCTCCAAACACACACACACCTAACA CACGCACCTAACACACACTTCCTTCAAACACACACACCTCCAAAGACACA CACACACCTAACACACACCTCCTTCAAACACACACACCTAACACACACCT CCTTCAAACACACACACACACCTCCAAACACACACACACCTAACACACAC CTCCTTCAAACACACACACACCTCCAAACACACACACCTAACACACACCT CCTTCAAACACACACACACCTCTCCAAACACACACACACCTAACACACCC CCCTTCAAACACACACACCTCTCCAAAAACACACACACACCTAACACACA CCTCCTTCAAACACACACACACCTCCAAACACAAACACACCTAACACACC CCTCCTTCAAACACACACACCTCAAAACACACACACCTCCAAAAACACAC ACATACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACACAC ACACCTAACACACACCTCTCTCAAACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGR6_chr1_202188799_202324761	202204775	C C	CACACACA others(653): Show CACACACACACCTCCAAACACACACACACCCCTAACACACACCTCCTCCA AACACAAACCTCCAAACACACACACACCTCCAAACACACACACACCTAAC ACACACCTCCTCCAAACACACACACACTTCCAAACACACACACACCTCCA AACACACATACATCTCCAAACACACACACACCTAACACACGCACCTAACA CACACTTCCTTCAAACACACACACCTCCAAAGACACACACACACCTAACA CACACCTCCTTCAAACACACACACCTAACACACACCTCCTTCAAACACAC ACACACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACAC ACACACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACACAC ACACACCTCTCCAAACACACACACACCTAACACACCCCCCTTCAAACACA CACACCTCTCCAAAAACACACACACACCTAACACACACCTCCTTCAAACA CACACACACCTCCAAACACAAACACACCTAACACACCCCTCCTTCAAACA CACACACCTCAAAACACACACACCTCCAAAAACACACACATACCTAACAC ACACCTCCTTCAAACACACACACCTCCAAACACACACACACCTAACACAC ACCTCTTTCAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00639.hp1 others(33): Show HG00099.hp1 HG00099.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG01081.hp1 HG01099.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02896.hp2 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp2 NA18522.hp2 NA18944.hp1 NA18952.hp1 NA18960.hp1 NA18963.hp2 NA18982.hp1 NA18998.hp1 NA19007.hp2 NA19085.hp2 NA19088.hp2 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0014	a0001c0001 a0002c0002 a0002c0006 others(3): Show a0001c0001 a0002c0002 a0002c0006 a0003c0004 a0004c0003 a0014c0022	a0001c0001t0004 a0002c0002t0002 a0002c0002t0003 others(7): Show a0001c0001t0004 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0006t0003 a0003c0004t0001 a0003c0004t0004 a0004c0003t0002 a0004c0003t0003 a0014c0022t0003	a0001c0001t0004g0053 a0001c0001t0004g0076 a0001c0001t0004g0077 others(33): Show a0001c0001t0004g0053 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0083 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0003g0014 a0002c0002t0003g0060 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0065 a0002c0002t0003g0067 a0002c0002t0003g0070 a0002c0002t0003g0071 a0002c0002t0003g0074 a0002c0002t0003g0078 a0002c0002t0003g0084 a0002c0002t0003g0087 a0002c0002t0003g0088 a0002c0002t0006g0073 a0002c0006t0003g0086 a0002c0006t0003g0089 a0003c0004t0001g0222 a0003c0004t0001g0223 a0003c0004t0004g0069 a0004c0003t0002g0110 a0004c0003t0003g0066 a0004c0003t0003g0068 a0004c0003t0003g0075 a0004c0003t0003g0082 a0004c0003t0003g0085 a0014c0022t0003g0072	36	39	0.9231	660	c.212 others(679): Show c.212+10584_212+10585insCTCCAAACACACACACACCCCTAACA CACACCTCCTCCAAACACAAACCTCCAAACACACACACACCTCCAAACAC ACACACACCTAACACACACCTCCTCCAAACACACACACACTTCCAAACAC ACACACACCTCCAAACACACATACATCTCCAAACACACACACACCTAACA CACGCACCTAACACACACTTCCTTCAAACACACACACCTCCAAAGACACA CACACACCTAACACACACCTCCTTCAAACACACACACCTAACACACACCT CCTTCAAACACACACACACACCTCCAAACACACACACACCTAACACACAC CTCCTTCAAACACACACACACCTCCAAACACACACACCTAACACACACCT CCTTCAAACACACACACACCTCTCCAAACACACACACACCTAACACACCC CCCTTCAAACACACACACCTCTCCAAAAACACACACACACCTAACACACA CCTCCTTCAAACACACACACACCTCCAAACACAAACACACCTAACACACC CCTCCTTCAAACACACACACCTCAAAACACACACACCTCCAAAAACACAC ACATACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACACAC ACACCTAACACACACCTCTTTCAAACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(653): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAT ATATAGTCACATATGTATATAAAACTATATATAGTTATATGTATATAAAA CTATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAA AACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAATTATATACAGTCATATATGTATATAAAACTATATACAGTCAT GTATGTATATAAAACTATACAGTCATATATGTATATAAAACTATATATAG TCATATATGTATATAAAACTATATAGTTATATATGTATATAAAACTATAT AGTTATATATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAG TTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTT ATATATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATAT GTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATACAGTT ATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	170	0.0059	660	c.-30 others(671): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATA TGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGT TATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATATAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAATTATATACAGTCATATATGTATATAAA ACTATATACAGTCATGTATGTATATAAAACTATACAGTCATATATGTATA TAAAACTATATATAGTCATATATGTATATAAAACTATATAGTTATATATG TATATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATATATG TATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTA TGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATGTATGTAAA ACTATAGTTATATATGTATGTAAAACTATATACAGTTATGTATGTATGTA AAACTATATACAGTTATGTATGTATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(653): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAT ATATAGTTATATGTATATAAAACTATAGTCATATATGTATATAAAACTAT ATATAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAA AACTATATACAGTCATATATGTATATAAAATTATATACAGTCATATATGT ATATAAAACTATATACAGTCATGTATGTATATAAAACTATACAGTCATAT ATGTATATAAAACTATACAGTCATATATGTATATAAAACTATATATAGTC ATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATAT AGTTATATATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAG TTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTT ATATATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATAT GTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATACAGTT ATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	170	0.0059	660	c.-30 others(671): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATA TGTATATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATATA TGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATACAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAATTATA TACAGTCATATATGTATATAAAACTATATACAGTCATGTATGTATATAAA ACTATACAGTCATATATGTATATAAAACTATACAGTCATATATGTATATA AAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATATATG TATATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATATATG TATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTA TGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATGTATGTAAA ACTATAGTTATATATGTATGTAAAACTATATACAGTTATGTATGTATGTA AAACTATATACAGTTATGTATGTATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(653): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGATCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0004 a0001c0001t0009g0004	1	220	0.0045	660	c.-43 others(671): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGC CTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGATCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(653): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG AGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	220	0.0045	660	c.-43 others(671): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGG AGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGG AGGGGTCGGCGTGGGCGGTGGGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4191		chr8	TogoVar
LRRC27_chr10_132327193_132386508	132364375	A A	ACCCTTAC others(653): Show ACCCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTTACAC CCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACGCCCACACTTACACCCACACTTACAT CTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTT ACATCTACCTCCACACCCGCGCTTACACCCACCCACACTTACACCCACGC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCGCGCTTACAC CCACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCT CCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTAC CTCCACGCCCACACTTACACCCACCCACACTTACACCCACCCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACAT CTACCTCCACG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	259	0.0039	660	c.129 others(679): Show c.1290-1046_1290-1045insTTACATCTACCTCCACGCCCACACTC ACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACGCCCAC ACTTACACCCACACTTACATCTACCTCCACACCCACACTTACACCCACCC ACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACGCTTACATCTACCTCCACACCCGCGCTTACACCC ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCT CCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTAC CTCCACACCCGCGCTTACACCCACCCACACTTACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACGCTTACATCTACCTCCACGCCCACACTTACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACGCTTACATCTACCTCCACGCCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364447	A A	ACCCACAC others(653): Show ACCCACACTTACACCCACCCACACTTACACCCACACTTACATCTACCTCC ACACCCGCGCTTACACCCACCCACACTTACACCCACGCTTACATCTACCT CCACACCCACACTTACACCCACCCACACTTACACCCACGCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACAT CTACCTCCACGCCCACACTTACACTCATGCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCAC GCCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCC ACGCCCACACTCACACCCACCCACACTTACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACAC CCACCCTTACATCTACCTCCACGCCCACACTCACACCCACACTTACATCT ACCTCCACACCCACACTTACACCCACCCACACTTACACCCACCCTTACAT CTACCTCCACG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0131 a0001c0001t0005g0183 a0001c0001t0005g0131 a0001c0001t0005g0183	2	261	0.0077	660	c.129 others(677): Show c.1290-969_1290-968insTACACCCACCCACACTTACACCCACACT TACATCTACCTCCACACCCGCGCTTACACCCACCCACACTTACACCCACG CTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCA CGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACC CACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACA CCCACGCTTACATCTACCTCCACGCCCACACTTACACTCATGCTTACATC TACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACA TCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACCCTTA CATCTACCTCCACGCCCACACTCACACCCACCCACACTTACACCCACCCT TACATCTACCTCCACGCCCACACTCACACCCACCCACACTTACACCCACC CACACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCA CCCACACTTACACCCACCCTTACATCTACCTCCACGCCCACACTCACACC CACACTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACA CCCACCCTTACATCTACCTCCACGCCCACACT	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCCC1_chr3_183010218_183104496	183017819	T T	TACTGGTC others(653): Show TACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAG GCCTACAGACCAAATGCACTAGTCAAATCAGAGGCCTACAGGTCAAATGC ACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGG CCTACAGGTCAAATGTACTGGTCAAATCAGAGGCCTACAGCCCAAATGTA CTGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGC CTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGCAC TGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCC TACAGCCCAAATGTACTCGTCAAATAAGAGGCCTACAGGTCAAATGCACT GGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCT ACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGCACTG GTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTA CAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGG TCAAATCAGAGGCCTACAGACCAAATGCACTAGTCAAATCAGAGGCCTAC AGGTCAAATGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(145): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02602.hp1 HG02647.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18940.hp2 NA18946.hp1 NA18947.hp1 NA18951.hp2 NA18960.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18985.hp2 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19043.hp2 NA19054.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp2 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0010 a0002c0002 others(5): Show a0001c0001 a0001c0010 a0002c0002 a0002c0008 a0002c0012 a0003c0005 a0003c0007 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0010t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0010t0001 a0002c0002t0001 a0002c0008t0003 a0002c0012t0001 a0003c0005t0001 a0003c0007t0001 a0005c0006t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(140): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0002g0191 a0001c0010t0001g0024 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0029 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0055 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0264 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0323 a0002c0002t0001g0330 a0002c0008t0003g0331 a0002c0012t0001g0217 a0003c0005t0001g0035 a0003c0005t0001g0036 a0003c0007t0001g0033 a0003c0007t0001g0034 a0005c0006t0001g0069 a0005c0006t0001g0075	148	174	0.8506	660	c.197 others(677): Show c.1978-483_1978-482insGCATTTGACCTGTAGGCCTCTGATTTGA CTAGTGCATTTGGTCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTG TAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAGGCCTCTGATTTGAC CAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGT AGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACC AGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTA GGCCTCTTATTTGACGAGTACATTTGGGCTGTAGGCCTCTGATTTGACCA GTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAG GCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAG TGCATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAGG CCTCTGATTTGACCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAGT GCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGC CTCTGATTTGACTAGTGCATTTGGTCTGTAGGCCTCTGATTTGACCAGTA CATTTGGGCTGTAGGCCTCTGATTTGACCAGT	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	17/18			chr3	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(653): Show ACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCACAG CCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCC ACCAGACAACGCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACGCG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0044 a0044	a0044c0043 a0044c0043	a0044c0043t0003 a0044c0043t0003	a0044c0043t0003g0069 a0044c0043t0003g0069	1	83	0.0120	660	c.377 others(677): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGCGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(653): Show ACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAG CCACCAGACAACGCACAGCCACCAGACAACCCACAGCCACCAGACAACGC GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCACAGCC ACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACGCAC AGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0209 a0001c0007t0001g0209	1	83	0.0120	660	c.377 others(677): Show c.377-3834_377-3833insCGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG TGGGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(653): Show ACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCACAG CCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCC ACCAGACAACGCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACGCG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG00741.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp1	a0001 a0048 a0001 a0048	a0001c0001 a0048c0097 a0001c0001 a0048c0097	a0001c0001t0001 a0048c0097t0001 a0001c0001t0001 a0048c0097t0001	a0001c0001t0001g0042 a0001c0001t0001g0154 a0048c0097t0001g0141 a0001c0001t0001g0042 a0001c0001t0001g0154 a0048c0097t0001g0141	3	85	0.0353	660	c.377 others(677): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGCGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(653): Show ACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCACAG CCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCC ACCAGACAACGCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACGCG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG04199.hp2 HG00735.hp1 HG01109.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0037 a0002c0002 a0002c0037	a0002c0002t0001 a0002c0037t0001 a0002c0002t0001 a0002c0037t0001	a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0037t0001g0147 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0037t0001g0147	3	85	0.0353	660	c.377 others(677): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGCGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(653): Show ACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCACAG CCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCC ACCAGACAACGCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACGCG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02300.hp2 HG01978.hp2 HG02300.hp2	a0001 a0004 a0001 a0004	a0001c0007 a0004c0004 a0001c0007 a0004c0004	a0001c0007t0001 a0004c0004t0002 a0001c0007t0001 a0004c0004t0002	a0001c0007t0001g0155 a0004c0004t0002g0130 a0001c0007t0001g0155 a0004c0004t0002g0130	2	84	0.0238	660	c.377 others(677): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGCGTTGTCTGGTG GCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(653): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCACAG CCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCC ACCAGACAACGCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACGCG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	83	0.0120	660	c.377 others(677): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGCGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(653): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGATCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	210	0.0048	660	c.26 others(671): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGC CTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGATCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGA	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(653): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG AGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	210	0.0048	660	c.26 others(671): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGG AGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGG AGGGGTCGGCGTGGGCGGTGGGGAGA	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2588		chr8	TogoVar
MTTP_chr4_99569824_99628997	99588927	A A	ACATATAT others(653): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATTCATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATGTTCATATATATATTCATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGT TCATATATATATGTTCATATATATGTTCATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATAT ATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATAT ATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	251	0.0040	660	c.394 others(675): Show c.394-707_394-706insGTTCATATATATATTCATATATATATGTTC ATATATATTCATATATATGTTCATATATATATTCATATATATGTTCATAT ATATTCATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATGTTCATATAT ATATTCATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATGTTCATATATATATGTTC ATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGT TCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATAT GTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATAT ATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar

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