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
LMF1_chr16_848634_975984	953875	A A	ACACCCAC others(795): Show ACACCCACCCCACACCAGCTTCCTACACGTCCACACAGACACCCACCCCA CACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCTTCCT ACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACAC AGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCC CACACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCTTC CTACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACACGTCCAC ACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCAC CCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCC TCCTACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACACGTCC ACACAGACACCCACCCCACACCAGCTTCCTACACGTCCACACAGACACCC ACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACCAG CCTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGT CCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACAC CCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACC AGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACAC GTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGAC ACC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0279 a0001c0010t0001g0279	1	154	0.0065	802	c.503 others(817): Show c.503+481_503+482insGGTGTCTGTGTGGACGTGTAGGAGGCTGGT GTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTGTGGGGTGGGTG TCTGTGTGGACGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACG TGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTG GTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGG TGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGA CGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGC TGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTGTGGGGTG GGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTG GACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAG GCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTGTGGGG TGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTG TGGACGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGG AGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGG GGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTG TGTGGACGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTA GGAAGCTGGTGTGGGGTGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LOC114841035_chr11_64236095_64249132	64237115	G G	GGGAGAGG others(795): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGACA GAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	321	0.0031	802	c.-41 others(813): Show c.-4165_-4164insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGACAGAC	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3979		chr11	TogoVar
LOC128092252_chr15_50643802_50691717	50679475	T T	TATATATA others(795): Show TATATATATATATTATATATATGTGTATATATATAATATATATATATATT ATATATATGTGTATATATATAATATATATATATATTATATATATGTGTAT ATATATAATATATATATATTATATATATGTGTATATATATAATATATATA TATATTATATATATGTGTATATATATAATATATATATATATTATATATAT GTGTATATATATAATATATATATATATTATATATATGTGTATATATATAA TATATATATATTATATATATGTGTATATATATAATATATATATTATATAT ATGTGTATATATATAATATATATATATTATATATATGTGTATATATATAA TATATATATATATTATATATATGTGTATATATATAATATATATATATATT ATATATATGTGTATATATATAATATATATATATTATATATATGTGTATAT ATATTATATATATATATTATATATATGTGTATATATATAATATATATATA TATTATATATATGTGTATATATATAATATATATATATTATATATATGTGT ATATATATAATATATATATATTATATATATGTGTATATATATAATATATA TATATATTATATATATGTGTATATATATAATATATATATATATTATATAT ATGTGTATATATATAATATATATATATATTATATATATGTGTATATATAT AATATATATATATTATATATATGTGTATATATATAATATATATATATTAT ATATGTGTATATATATAATATATATATATATTATATATATGTGTATATAT ATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	381	0.0026	802	c.187 others(819): Show c.187+7055_187+7056insTATATATATACACATATATATAATATAT ATATATATTATATATATACACATATATAATATATATATATTATATATATA CACATATATATAATATATATATATTATATATATACACATATATATAATAT ATATATATATTATATATATACACATATATATAATATATATATATATTATA TATATACACATATATATAATATATATATATATTATATATATACACATATA TATAATATATATATATTATATATATACACATATATATAATATATATATAT TATATATATACACATATATATAATATATATATATATTATATATATACACA TATATATAATATATATATATAATATATATACACATATATATAATATATAT ATATTATATATATACACATATATATAATATATATATATATTATATATATA CACATATATATAATATATATATATATTATATATATACACATATATATAAT ATATATATATTATATATATACACATATATATAATATATATATTATATATA TACACATATATATAATATATATATATTATATATATACACATATATATAAT ATATATATATATTATATATATACACATATATATAATATATATATATATTA TATATATACACATATATATAATATATATATATATTATATATATACACATA TATATAATATATATATATTATATATATACACATATATATAATATATATAT ATATTATATATATACACATATATATAATATATATATATATTATATATATA CACATATATATAATATATATATAT	LOC128092252	ENSG00000288645.1	transcript	ENST00000676296.1	protein_coding	1/3			chr15	TogoVar
MAP3K15_chrX_19355059_19520508	19478087	A A	AGGGGGAG others(795): Show AGGGGGAGGGGAGAGGGGGGAGAGGGGGAGAGGGGGAGAGGGGGGGAGGG GGAGAGGGGGGAGGGGGGGAGGGGGGGAGGGGGAGAGGGGGGGAGGGGGA GAGGGGGGGAGGGGGGAGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAG AGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGAGAGAGGGGGGA GGGGGGAGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGA GGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGG GGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAG AGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGAGGGGGGAGAGG GGGAGAGGGGGGAGAGAGGGGGAGAGGGGGGAGAGAGGGGGAGAGGGGGG AGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGG AGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGG GGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGA GGGGGGAGGGGGGAGAGGGGGGAGGGGGGGAGGGGGGAGGGGGGGGAGGG GGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGG GAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGGGAGGGGGGA GGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGGGAGGGGGGAGGGG GGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0002 a0002c0015t0002	a0002c0015t0002g0056 a0002c0015t0002g0056	1	140	0.0071	802	c.525 others(819): Show c.525+8394_525+8395insCCCCCCCTCCCCCCTCCCCCCCCTCCCC CCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCCCTCCCCCCTC CCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCC CCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCCTCCCCCCTCCCCC CCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTC CCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCC CTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCC CCCCTCTCCCCCCTCCCCCCTCTCTCCCCCCTCTCCCCCTCTCTCCCCCC TCTCCCCCTCTCTCCCCCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCCCC CTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCT CCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCC CCCCTCCCCCCTCCCCCCTCTCCCCTCCCCCCTCTCCCCCCTCCCCCCTC TCCCCCCTCCCCCCTCTCTCCCCCCTCCCCCCTCTCTCCCCCTCTCCCCC CTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCT CCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCTCCCCCCCTCTCCCCCTCC CCCCCTCCCCCCCTCCCCCCTCTCCCCCTCCCCCCCTCTCCCCCTCTCCC CCTCTCCCCCCTCTCCCCTCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MPG_chr16_73225_90846	82247	G G	GCTCCCCA others(795): Show GCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAT CTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACC ACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGAC CCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATG CTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTC CTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGA AGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCA CCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTT CCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC CGGCGCTGACCCCTTCTTCCCACCATCCTACCTCCGGGAAGGCCTCCTGA ATA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0264 a0001c0006t0001g0264	1	135	0.0074	802	c.301 others(817): Show c.301-799_301-798insACACTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCA CCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTT CCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGACC CCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGC GCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGC TCCCGGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCC TGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAA GCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCT CCAGGAAGCCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCAC CCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTC CCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCC CTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACG CTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCT CCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTC CTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCATCCTACCTCCGG GAAGGCCTCCTGAATACTCCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82247	G G	GCTCCCCA others(795): Show GCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAT CTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACC ACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGAC CCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATG CTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTC CTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGGCCTCCTGAATACTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA CCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC CGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGA ATA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	135	0.0074	802	c.301 others(817): Show c.301-799_301-798insACACTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCA CCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTT CCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGACC CCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGC GCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGC TCCCGGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCC TGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAA GGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCT CCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATACTCCCCGCGCTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGAC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATG CTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTC CTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGGCCTCCTGAATACTCCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(795): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAC CCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACC CCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTC ACT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0188 a0002c0006t0001g0188	1	246	0.0041	802	c.-8+ others(815): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAG CGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCG GGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG GCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAG AGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(795): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCTCCTACCCCG GCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCC CGGCCTCGGCTCTCACCCCCTACCCCGGCCCCGGCTCTCACCCCCTACCC CTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTAC CCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCC TACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCC CTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCAC TCC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	6	0.1667	802	c.-8+ others(815): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGT AGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGC CGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAG AGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(795): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATA TATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTT ATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATA TATATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGA TTTTATATATATATAAAATAAGATTTTATATATATATAAGATTTTATATA TATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATATA TAAAATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAA TCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03139.hp1 HG02922.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0030 a0001c0001t0007 a0001c0001t0030	a0001c0001t0007g0150 a0001c0001t0030g0151 a0001c0001t0007g0150 a0001c0001t0030g0151	2	243	0.0082	802	c.-5+ others(817): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATCTTATTTTATATA TATATAAAATCTTATTTTATATATATATAAAATCTTATATATATATAAAA TCTTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATATA TATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTT ATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAATA TATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATT TTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAA TATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGA TTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAA AATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAA GATTTTATATATATAAAATAAGATTTTATATATATAAAATATATATAAAG TAAGATTTTATATATATATAAAATATATATAAAGTAAGATTTCATATATA TAAAATATAAAGTAAGATTTTATATATATATAAAATATATATAAAATATA TATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTT ATATATATATAAAATATATAAAAAATATATATCAAATATATATAAAATAA GATTTTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MYT1L_chr2_1784113_2336275	2295601	G G	GACAGACA others(795): Show GACAGACAGAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGAGA GACAGACAGACAGAGAGAGAGAGACAGACAGACAGAGAGAGACAGACAGA GAGAGAGAGACAGACAGACAGACAGAGAGAGAGAGACAGACAGACAGAGA GAGACAGACAGAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGA GATAGAGAGACAGACAGACAGAGAGAGAGAGAGAGACAGACAGACAGAGA GAGAGAGAGAGAGACAGACAGACAGAGAGAGAGAGATAGAGAGACAGACA GACAGAGAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGAGAGAGAGA GAGACAGACAGACAGAGAGAGAGAGAGAGAGAGACAGACAGACAGAGAGA GAGAGAGAGAGAGACAGACAGAGAGAGAGATAGAGAGACAGACAGACAGA GAGAGAGAGAGAGACAGACAGAGAGAGAGAGAGAGAGAGACAGACAGAGA GAGAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGAGAGAGAGAGAGA CAGACAGACAGAGAGAGAGAGAGAGAGAGACAGACAGAGAGAGAGATAGA GAGACAGACAGACAGAGAGAGAGAGAGAGACAGACAGAGAGAGAGAGAGA GAGAGACAGACAGACAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGA GAGAGAGAGAGAGACAGACAGACAGAGAGAGAGAGAGAGAGACAGACAGA CAGAGAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGAGAGAGAGAGA GAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0088 a0001c0005t0004g0088	1	86	0.0116	802	c.-52 others(823): Show c.-520-11099_-520-11098insGTCTCTCTCTCTCTCTCTCTCTGT CTGTCTGTCTCTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCT CTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCT CTATCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTCTCTGTCTGT CTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCTCTGTCTGT CTCTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTCTCT GTCTGTCTGTCTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCT CTCTCTCTCTGTCTGTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTAT CTCTCTCTCTGTCTGTCTCTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCT CTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTCTCTGTCT GTCTGTCTCTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCT CTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCT CTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCTCTCTGTCTGTCTGT CTCTCTATCTCTCTCTCTCTGTCTGTCTCTCTCTGTCTGTCTGTCTCTCT CTCTCTGTCTGTCTGTCTGTCTCTCTCTCTCTGTCTGTCTCTCTCTGTCT GTCTGTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTGTCTGTCT GTCTCTCTATCTCTCTCTCTCTGTCTGT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	1/24			chr2	TogoVar
NEDD4L_chr18_58039226_58406539	58209261	T T	TCCTCCCC others(795): Show TCCTCCCCCTCCTCCTCCACCTCCTCCTCGTCCTCCACCTCCATCTCCTC TCCATCCTCCTCCTCCACCTCCACCTCCTCCTCCCTCTCCTCCTCCCTCT CCTCCTCCTCCCCCTCCTCCTCGTCCTCTACCTCCTCCTCCTCCACCACC TCCATCTGCTCCTCCTCCTCCCCCTCCACCTCCCCCTCCCCCTCCTCCTC CCTCTCCTCCTCCCCCTCCACCTCCACCTCTTCCTCCCCGCCTCCTCCCC CACCCCCTCCTTCTCAACCTCCGCCTCCCCTTCCTCCTCATCATCCTCCA CCTCCACCTCCCCCTGTTCCTCCTCCTCCTCCTCCACCTCCACCCCCTCC TCCTCATCCTCCACCCCCTCCTCCTCCTCCACCTCCACCTCCACCTCCTC ATCCTGCACCTCCACGTCCTCCTCCCCCTCCACCTCCTCCTCCACCTGCA CCTCCTCAACCTCCTCCTCCCCCTCCACCTCCCCCTCCTCCCCCTCCTCC TTAACCTCCACCTCCACCTCCTCCTCCTCATCCTCCACTTCCACCTCCTC CTCCCCCTGGTCCTTCCCCTCCTCCTCCTCCACCTCCTCCTCCTCATCCT CCACCCCCTCCTCCTCATCCTCCACCCCCTCCTCCTCCACTTCTGCCTCC ACCTCCTCCTCCTCATCCTGCACTTCCGCCTCCTCCTCCCCCTCCCCCTC CTCCACCTCCACCTCCTCCTCCTCATCCTCCACCTGCTCCTCCTCATCCT CCACCTCCACCTCCTCCTCCTCCACCTCCTCCTTCTCCACCTCCACATCC TCC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	56	0.0179	802	c.123 others(821): Show c.123-36166_123-36165insCCTCCCCCTCCTCCTCCACCTCCTCC TCGTCCTCCACCTCCATCTCCTCTCCATCCTCCTCCTCCACCTCCACCTC CTCCTCCCTCTCCTCCTCCCTCTCCTCCTCCTCCCCCTCCTCCTCGTCCT CTACCTCCTCCTCCTCCACCACCTCCATCTGCTCCTCCTCCTCCCCCTCC ACCTCCCCCTCCCCCTCCTCCTCCCTCTCCTCCTCCCCCTCCACCTCCAC CTCTTCCTCCCCGCCTCCTCCCCCACCCCCTCCTTCTCAACCTCCGCCTC CCCTTCCTCCTCATCATCCTCCACCTCCACCTCCCCCTGTTCCTCCTCCT CCTCCTCCACCTCCACCCCCTCCTCCTCATCCTCCACCCCCTCCTCCTCC TCCACCTCCACCTCCACCTCCTCATCCTGCACCTCCACGTCCTCCTCCCC CTCCACCTCCTCCTCCACCTGCACCTCCTCAACCTCCTCCTCCCCCTCCA CCTCCCCCTCCTCCCCCTCCTCCTTAACCTCCACCTCCACCTCCTCCTCC TCATCCTCCACTTCCACCTCCTCCTCCCCCTGGTCCTTCCCCTCCTCCTC CTCCACCTCCTCCTCCTCATCCTCCACCCCCTCCTCCTCATCCTCCACCC CCTCCTCCTCCACTTCTGCCTCCACCTCCTCCTCCTCATCCTGCACTTCC GCCTCCTCCTCCCCCTCCCCCTCCTCCACCTCCACCTCCTCCTCCTCATC CTCCACCTGCTCCTCCTCATCCTCCACCTCCACCTCCTCCTCCTCCACCT CCTCCTTCTCCACCTCCACATCCTCC	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30			chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58209261	T T	TCCTCCCC others(795): Show TCCTCCCCCTCCTCCTCCACCTCCTCCTCGTCCTCCACCTCCATCTCCTC TCCATCCTCCTCCTCCACCTCCACCTCCTCCTCCCTCTCCTCCTCCCTCT CCTCCTCCTCCCCCTCCTCCTCGTCCTCTACCTCCTCCTCCTCCACCACC TCCATCTGCTCCTCCTCCTCCCCCTCCACCTCCCCCTCCCCCTCCTCCTC CCTCTCCTCCTCCCCCTCCACCTCCACCTCTTCCTCCCCGCCTCCTCCCC CACCCCCTCCTTCTCAACCTCCGCCTCCCCTTCCTCCTCATCATCCTCCA CCTCCACCTCCCCCTGTTCCTCCTCCTCCTCCTCCACCTCCACCCCCTCC TCCTCATCCTCCACCCCCTCCTCCTCCTCCACCTCCACCTCCACCTCCTC ATCCTGCACCTCCACGTCCTCCTCCCCCTCCACCTCCTCCTCCACCTGCA CCTCCTCAACCTCCTCCTCCCCCTCCACCTCCCCCTCCTCCCCCTCCTCC TTAACCTCCGCCTCCACCTCCTCCTCCTCATCCTCCACTTCCACCTCCTC CTCCCCCTGGTCCTTCCCCTCCTCCTCCTCCACCTCCTCCTCCTCATCCT CCACCCCCTCCTCCTCATCCTCCACCCCCTCCTCCTCCACTTCTGCCTCC ACCTCCTCCTCCTCATCCTGCACTTCCGCCTCCTCCTCCCCCTCCCCCTC CTCCACCTCCACCTCCTCCTCCTCATCCTCCACCTGCTCCTCCTCATCCT CCACCTCCACCTCCTCCTCCTCCACCTCCTCCTTCTCCACCTCCACATCC TCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp2 HG01071.hp1 others(25): Show HG00099.hp2 HG00673.hp2 HG01071.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02559.hp2 HG02735.hp2 HG02896.hp2 HG03540.hp1 HG03540.hp2 HG03834.hp2 NA18612.hp1 NA18951.hp2 NA18962.hp2 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA18995.hp2 NA19004.hp2 NA19005.hp1 NA19060.hp1 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0030 a0001c0001t0035	a0001c0001t0001g0068 a0001c0001t0001g0111 a0001c0001t0002g0033 others(25): Show a0001c0001t0001g0068 a0001c0001t0001g0111 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0078 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0022 a0001c0001t0003g0094 a0001c0001t0004g0039 a0001c0001t0004g0071 a0001c0001t0004g0105 a0001c0001t0005g0096 a0001c0001t0008g0029 a0001c0001t0008g0060 a0001c0001t0010g0066 a0001c0001t0012g0047 a0001c0001t0018g0008 a0001c0001t0018g0087 a0001c0001t0020g0062 a0001c0001t0021g0046 a0001c0001t0030g0109 a0001c0001t0035g0050	28	83	0.3373	802	c.123 others(821): Show c.123-36166_123-36165insCCTCCCCCTCCTCCTCCACCTCCTCC TCGTCCTCCACCTCCATCTCCTCTCCATCCTCCTCCTCCACCTCCACCTC CTCCTCCCTCTCCTCCTCCCTCTCCTCCTCCTCCCCCTCCTCCTCGTCCT CTACCTCCTCCTCCTCCACCACCTCCATCTGCTCCTCCTCCTCCCCCTCC ACCTCCCCCTCCCCCTCCTCCTCCCTCTCCTCCTCCCCCTCCACCTCCAC CTCTTCCTCCCCGCCTCCTCCCCCACCCCCTCCTTCTCAACCTCCGCCTC CCCTTCCTCCTCATCATCCTCCACCTCCACCTCCCCCTGTTCCTCCTCCT CCTCCTCCACCTCCACCCCCTCCTCCTCATCCTCCACCCCCTCCTCCTCC TCCACCTCCACCTCCACCTCCTCATCCTGCACCTCCACGTCCTCCTCCCC CTCCACCTCCTCCTCCACCTGCACCTCCTCAACCTCCTCCTCCCCCTCCA CCTCCCCCTCCTCCCCCTCCTCCTTAACCTCCGCCTCCACCTCCTCCTCC TCATCCTCCACTTCCACCTCCTCCTCCCCCTGGTCCTTCCCCTCCTCCTC CTCCACCTCCTCCTCCTCATCCTCCACCCCCTCCTCCTCATCCTCCACCC CCTCCTCCTCCACTTCTGCCTCCACCTCCTCCTCCTCATCCTGCACTTCC GCCTCCTCCTCCCCCTCCCCCTCCTCCACCTCCACCTCCTCCTCCTCATC CTCCACCTGCTCCTCCTCATCCTCCACCTCCACCTCCTCCTCCTCCACCT CCTCCTTCTCCACCTCCACATCCTCC	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30			chr18	TogoVar
NFATC1_chr18_79390930_79534323	79474222	C C	CGTTGTAA others(795): Show CGTTGTAAACCTGAGGGAAGCGTGTTCTCGCGCTCACTGTCGACGTAAAC CTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACATTGTAAACCTGAGGG AAGCGTGTTCTCGCGCTCACTGTCGACGTTGTAAACCTGAGGGAAGCGTG TTCTCACGCTCACCGTCGACGTAAACCTGAGGGAAGCGTGTTCTCTCACT GTCAACTTTGCAAGGGAAGCGTGTTCTCGCGCTCACTGTCGACGTTGTAA ACCTGAGGGAAGCGTGTTCTCACACTCACTGTCGACGTTGCAAGGGAAGC GTGTTCTCACACTCACTGTCGACATTGTGAGGGAAGTGTATTCTCACGCT GTCGACATAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTTGACGTAA ACCTGAGGGAAGTGTGTTCTCACACTCACTGTCAACGTTGTAAACCTGAG GGAAGCGTGTTCTCACACTCACTGTCGACGTTGTGAGGGAAGCGTGTTCT CACGCTCACTGTCGACATTGTAAACCTGAGGGAAGCGTGTTCTCGCGCTC ACTGTCGACGTTGCGAGGGAAGCGTTTTCACACTCACTGTCGACGTAAAC CTGAGGGAAGCGTGTTCTCACGCTCGCTGTCAACGTAAACCTGAGGGAAG CGTGTTCTCACGCTCACTGTCGACGTTGTAAACCTGAGGGAAGCGTGTTC TCACGCTCGCTGTCGACGTTGTAAACCTGAGGGAAGCGTGTTCTCACGCT CGCTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCATGCTCACTGTCGAC GTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	18	0.0556	802	c.209 others(821): Show c.2092+6642_2092+6643insTGTAAACCTGAGGGAAGCGTGTTCTC GCGCTCACTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTG TCGACATTGTAAACCTGAGGGAAGCGTGTTCTCGCGCTCACTGTCGACGT TGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACCGTCGACGTAAACCTG AGGGAAGCGTGTTCTCTCACTGTCAACTTTGCAAGGGAAGCGTGTTCTCG CGCTCACTGTCGACGTTGTAAACCTGAGGGAAGCGTGTTCTCACACTCAC TGTCGACGTTGCAAGGGAAGCGTGTTCTCACACTCACTGTCGACATTGTG AGGGAAGTGTATTCTCACGCTGTCGACATAAACCTGAGGGAAGCGTGTTC TCACGCTCACTGTTGACGTAAACCTGAGGGAAGTGTGTTCTCACACTCAC TGTCAACGTTGTAAACCTGAGGGAAGCGTGTTCTCACACTCACTGTCGAC GTTGTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACATTGTAAACCTGA GGGAAGCGTGTTCTCGCGCTCACTGTCGACGTTGCGAGGGAAGCGTTTTC ACACTCACTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCGCTG TCAACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACGTTGT AAACCTGAGGGAAGCGTGTTCTCACGCTCGCTGTCGACGTTGTAAACCTG AGGGAAGCGTGTTCTCACGCTCGCTGTCGACGTAAACCTGAGGGAAGCGT GTTCTCATGCTCACTGTCGACGTTGT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NME4_chr16_392199_405754	397703	G G	GGGGGGTG others(795): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAG TCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGG GGT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	311	0.0032	802	c.91+ others(815): Show c.91+393_91+394insGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGG GGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGA GGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGT GAGGGAGTCGGGGGGGTGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(795): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGGAGGGG AAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAA GGGGAGGGGGAGAGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGG GGGAGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGAGGG GGAGGGGAGGAGGGGGAGGAAGGGGAGGGAGGAGGGGAGGAGGGGGAGGG AGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGG AGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGG GAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGG AGGGAGGAGGGGGAGGGGAGGGGGAGAGGGGGAGGGGAGGGGGGAGGGGA GGGGAGGAGGGGAGGAGGGAGGAGGGGAGGAGGAGGGAGGGGAGGAGGGA GGGGAGGAGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGAGGGGAGGAG TGGAGAGGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAGGAGGGTAAG GGAAGGAAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGGGAGGGGAGG GGTGCGGGAGGGGAGGGGTGCGGGAGGGGAGGGTAAGGGAAGGGAGGGGA GGGTGGGGGAGGGGAGGGAAGAGGAGTGGAGAGGAGGAGAAGGGAGGGGA GGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0175 a0001c0002t0001g0175	1	4	0.2500	802	c.279 others(817): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCC TTTCCTCCCCTCCCCTCCTCCCCTCCCTCCTCCCCTCCCTCCTCCTCCCC TCCTCCCTCCTCCCCTCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCTC CCCCTCCCCTCCCCCTCCTCCCTCCCCTCCTCCCCTCCCCCTCCTCCCCT CCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCTCCCTCC CCTTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCCCCCTCC CCTCCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC CTCCCCTCCCTCTCCCCCTCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTC CCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCTCCCCT CCCCTTCCCACCCCTCCCTTCTCCTTCCCCCTCCCCTTCCCTCCCTTCCC TTCTCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(795): Show AGAAGAGAGGGGAGGGGGGGAGAAGGAAGGGAGGGAAGGGGGAGGGGGAA GGAGAAGGGAGGGTGGAAGGGAGGGAAGGGAGGGAGGGAGGGGAAGGGGG AGGGGGAAGGGGGAGGGAGGGGGAGGGGGAGGGGGGGGAGGGGAGGGGAG GGGGGAGGAGGGAGGGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGTGGAGGGGAGG AGGGGAGGGGGAGGAGGGGGAGGAGGGGGAGGGAGGAGGGGAGGAGGGGG AGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGGAGGGGAGGGGAGGAGG GGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAG GAGGGGAGGGAGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGA GGGGAGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAG GAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAG GGGAGGGGAGGAGGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGAGGGG AGGAGTGGAGAGGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAGGAGG GTAAGGGAAGGAAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGGGAGG GGAGGGGTGCGGGAGGGGAGGGGTGCGGGAGGGGAGGGTAAGGGAAGGGA GGGGAGGGTGGGGGAGGGGAGGGAAGAGGAGTGGAGAGGAGGAGAAGGGA GGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0160 a0001c0002t0001g0160	1	4	0.2500	802	c.279 others(817): Show c.279+365_279+366insCCCTCCCTTCTCCTCCTCTCCACTCCTCTT CCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTCCCGCA CCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCACTCCTC CCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTCCCCTC CCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCCTTTCC TCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCC CTCCCCCTCCTCTCCCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCTCCCTCCCCCT CCTCCCCCTCCTCCCCCTCCCCTCCTCCCCTCCACCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CCTCCCCCCCTCCCTCCTCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCCT CCCCCTCCCTCCCCCTTCCCCCTCCCCCTTCCCCTCCCTCCCTCCCTTCC CTCCCTTCCACCCTCCCTTCTCCTTCCCCCTCCCCCTTCCCTCCCTTCCT TCTCCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NPRL3_chr16_80386_143673	82247	G G	GCTCCCCA others(795): Show GCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAT CTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACC ACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGAC CCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATG CTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTC CTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGA AGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCA CCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTT CCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC CGGCGCTGACCCCTTCTTCCCACCATCCTACCTCCGGGAAGGCCTCCTGA ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	114	0.0088	802	c.44 others(813): Show c.4457_*4458insTATTCAGGAGGCCTTCCCGGAGGTAGGATGGTGG GAAGAAGGGGTCAGCGCCGGGGGAGCATTCAGGAGGCCTTCCCGGAGGTA GGGTGGTGGGAAGAAGGGGTCAGCGCCGGGGGAGCATTCAGGAGGCCTTC CCGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCGTGGGGAGCATTCAGGA GGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCA TTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCG GGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGT CAGTGTGGGGAGCATTCAGGAGGGCTTCCTGGAGGTAGGGTGGTGGGAAG AAGGGGCCAGCGTGGGGAGCATTCAGGAGGGCTTCCTGGAGGTAGGGTGG TGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGAT AGGGTGGTGGGAAGAAGGGGTCAGCGCCGGGAGCATTCAGGAGGCCTTCC CGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAG GCCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGCGCCGGGAGCAT TCAGGAGGCCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGCGCGG GGAGCATTCAGGAGGCCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTC AGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGA AGGGGTCAGTGTGGGGAG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3138		chr16	TogoVar
NPRL3_chr16_80386_143673	82247	G G	GCTCCCCA others(795): Show GCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAT CTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACC ACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGAC CCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATG CTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTC CTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGGCCTCCTGAATACTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA CCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC CGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGA ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	114	0.0088	802	c.44 others(813): Show c.4457_*4458insTATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGG GAAGAAGGGGTCAGCGCCGGGGGAGCATTCAGGAGGCCTTCCCGGAGGTA GGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCC GGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGG CCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATT CAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGG GAGTATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCA GCGCCGGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAG AAGGGGCCAGCGTGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGG TGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGAT AGGGTGGTGGGAAGAAGGGGTCAGCGCCGGGAGCATTCAGGAGGCCTTCC CGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAG GCCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGCGCCGGGAGCAT TCAGGAGGCCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGCGCGG GGAGCATTCAGGAGGCCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTC AGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGA AGGGGTCAGTGTGGGGAG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3138		chr16	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(795): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAC CCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACC CCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTC ACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	226	0.0044	802	c.15 others(813): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAGGAG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGG GTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCG GGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG GCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAG CCGGGGGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(795): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCGGCTCTCACCCCCTACCC CTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTAC CCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCC TACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCC CTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCAC TCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	5	0.2000	802	c.15 others(813): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGAGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGG TAGGAGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGCCGG GGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGC CGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGG GCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCC GGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAG CCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAG AGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PJA2_chr5_109329722_109414974	109353988	T T	TGTCTATG others(795): Show TGTCTATGATATCTAGAGATATCTATAGATTAGATATCTATATCTAGAGA TATCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGAT ATCTATATCAAGAGATGTCTATAGATTAGATATCTATATCTAGAGATGTC TATAGATTAGATATCTATGATATCTAGAGATGTCTATAGAGTAGATATCT ATGATGTCTAGAGATTTCTATAGATTAGATATCTATGATGTCTAGAGATA TCTATAGATTAGATATCTATGATGTCTAGAGATATCTATAGATTAGATAT CTATGATGTCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGA TATCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGAT ATCTATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGA GATATCTATAGATTAGATATCTATGCTATCTAGAGATATCTATAGATTAG ATATCTGTGATATCTAGAGATATCTATAGATTGGATATCTATGATATCTA GAGATATCTATAGATTGGATATCTATGATATCTAGAGATATCTATAGATT AGATATCTATGATATCTAGAGATATCTATAGATTAGATGTCTATGATATC TAGAGATATCTATAGATTAGATAGATATCTAGAGATATCTATAGATTAGA TAGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATA TCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATAT CTA	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0059 a0003c0003t0002g0059	1	264	0.0038	802	c.176 others(821): Show c.1764+1926_1764+1927insTAGATATCTAATCTATAGATATCTCT AGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATC TAATCTATAGATATCTCTAGATATCTATCTAATCTATAGATATCTCTAGA TATCTATCTAATCTATAGATATCTCTAGATATCATAGACATCTAATCTAT AGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATAT CATAGATATCCAATCTATAGATATCTCTAGATATCATAGATATCCAATCT ATAGATATCTCTAGATATCACAGATATCTAATCTATAGATATCTCTAGAT AGCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCTAAT CTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAG ATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCTA ATCTATAGATATCTCTAGACATCATAGATATCTAATCTATAGATATCTCT AGACATCATAGATATCTAATCTATAGATATCTCTAGACATCATAGATATC TAATCTATAGAAATCTCTAGACATCATAGATATCTACTCTATAGACATCT CTAGATATCATAGATATCTAATCTATAGACATCTCTAGATATAGATATCT AATCTATAGACATCTCTTGATATAGATATCTAATCTATAGATATCTCTAG ATATCATAGATATCTAATCTATAGATATCTCTAGATATAGATATCTAATC TATAGATATCTCTAGATATCATAGAC	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
POLG_chr15_89311320_89339824	89325119	T T	TGAGAGAG others(795): Show TGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTG AGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAG TGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAG AGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTG AGTGAGAGAGTGAGTGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTG AGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAG TGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTG AGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAG TGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTG AGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGAGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAG TGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGAGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAG TGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGAGTGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTG AGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0148 a0001c0012t0001g0148	1	392	0.0026	802	c.194 others(819): Show c.1949+330_1949+331insTCTCACTCACTCACTCACTCACTCTCTC ACTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCTCTCTC ACTCACTCACTCTCTCACTCTCTCACTCTCTCACTCACTCACTCACTCTC TCACTCTCTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCTCAC TCACTCTCTCACTCACTCACTCTCACTCTCTCACTCACTCACTCTCTCAC TCTCTCACTCTCTCACTCACTCACTCACTCTCTCACTCACTCTCTCTCAC TCACTCTCTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTC ACTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCACTCAC TCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTC TCTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTC TCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCACTCACTC ACTCACTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCTCTC ACTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCTCTCAC TCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTC ACTCACTCTCTCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCAC TCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTC ACTCTCTCACTCACTCACTCTCTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PRDM15_chr21_41793225_41884344	41814641	T T	TCGTGTTA others(795): Show TCGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATGAGAATGCCTTG TGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATGAGAATGCCTTGTGT TAGTGATTGCGCAGGGTGCTCTAGTGTGTTATGAGAACGACTCGTGTTAG TGATTGCGCAGGGTGCTCTAGTGTTTTATGAGAATGCCTCGTGTTACTGA TTGCGCAGGGTGCTCTAGTGTTTTATGAGAATGCCTCGTGTTAGTGATTG CGCAGGGTGCTCTAGTGTGTTATGAGAATGCCTCGTGTTAGTGATTGCGC AGGGTGCTCTAGTGTTTTATGAGAATGCCTCGTGTTAGTGATTGCGCAGG GTGCTCTAGTGTTTTATGAGAATGCCTCGTGTTAGTGATTGCGCAGGGTG CTCTAGTGTTTTATGAGAATGCCTCGTGTTAGTGATTGCACAGGGTGCTC TAGTGTTTTATGAGAATGCCTCGTGTTAGTGATTGCGCAGGGTGCTCTAG TGTTTTATGAGAATGCCTTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGT TTTATGAGAACGACTTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTT ATGAGAATGCCTCATGTTAGTGATTGCGCAGCGTGCTCTAGTGTTTTATG AGAATGGCTGTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATGAG AATGCCTTGTGTTAGTGATTGCGCCGGGTGCTCTAGTGTTTTATGAGAAT GGCTGTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATGAGAATGG CTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0152 a0001c0001t0016g0152	1	402	0.0025	802	c.239 others(821): Show c.2392+1063_2392+1064insCAGCCATTCTCATAAAACACTAGAGC ACCCTGCGCAATCACTAACACACAGCCATTCTCATAAAACACTAGAGCAC CCGGCGCAATCACTAACACAAGGCATTCTCATAAAACACTAGAGCACCCT GCGCAATCACTAACACACAGCCATTCTCATAAAACACTAGAGCACGCTGC GCAATCACTAACATGAGGCATTCTCATAAAACACTAGAGCACCCTGCGCA ATCACTAACACAAGTCGTTCTCATAAAACACTAGAGCACCCTGCGCAATC ACTAACACAAGGCATTCTCATAAAACACTAGAGCACCCTGCGCAATCACT AACACGAGGCATTCTCATAAAACACTAGAGCACCCTGTGCAATCACTAAC ACGAGGCATTCTCATAAAACACTAGAGCACCCTGCGCAATCACTAACACG AGGCATTCTCATAAAACACTAGAGCACCCTGCGCAATCACTAACACGAGG CATTCTCATAAAACACTAGAGCACCCTGCGCAATCACTAACACGAGGCAT TCTCATAACACACTAGAGCACCCTGCGCAATCACTAACACGAGGCATTCT CATAAAACACTAGAGCACCCTGCGCAATCAGTAACACGAGGCATTCTCAT AAAACACTAGAGCACCCTGCGCAATCACTAACACGAGTCGTTCTCATAAC ACACTAGAGCACCCTGCGCAATCACTAACACAAGGCATTCTCATAAAACA CTAGAGCACCCTGCGCAATCACTAACACAAGGCATTCTCATAAAACACTA GAGCACCCTGCGCAATCACTAACACG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	19/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41814641	T T	TCGTGTTA others(795): Show TCGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATGAGAATGCCTTG TGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATGAGAATGCCTTGTGT TAGTGATTGCGCAGGGTGCTCTAGTGTGTTATGAGAACGACTTGTGTTAG TGATTGCGCAGGGTGCTCTAGTGTTTTATGAGAATGCCTCGTGTTACTGA TTGCGCAGGGTGCTCTAGTGTTTTATGAGAATGCCTCGTGTTAGTGATTG CGCAGGGTGCTCTAGTGTGTTATGAGAATGCCTCGTGTTAGTGATTGCGC AGGGTGCTCTAGTGTTTTATGAGAATGCCTCGTGTTAGTGATTGCGCAGG GTGCTCTAGTGTTTTATGAGAATGCCTCGTGTTAGTGATTGCGCAGGGTG CTCTAGTGTTTTATGAGAATGCCTCGTGTTAGTGATTGCACAGGGTGCTC TAGTGTTTTATGAGAATGCCTCGTGTTAGTGATTGCGCAGGGTGCTCTAG TGTTTTATGAGAATGCCTTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGT TTTATGAGAACGACTTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTT ATGAGAATGCCTCATGTTAGTGATTGCGCAGCGTGCTCTAGTGTTTTATG AGAATGGCTGTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATGAG AATGCCTTGTGTTAGTGATTGCGCCGGGTGCTCTAGTGTTTTATGAGAAT GGCTGTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATGAGAATGG CTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0171 a0001c0001t0016g0171	1	402	0.0025	802	c.239 others(821): Show c.2392+1063_2392+1064insCAGCCATTCTCATAAAACACTAGAGC ACCCTGCGCAATCACTAACACACAGCCATTCTCATAAAACACTAGAGCAC CCGGCGCAATCACTAACACAAGGCATTCTCATAAAACACTAGAGCACCCT GCGCAATCACTAACACACAGCCATTCTCATAAAACACTAGAGCACGCTGC GCAATCACTAACATGAGGCATTCTCATAAAACACTAGAGCACCCTGCGCA ATCACTAACACAAGTCGTTCTCATAAAACACTAGAGCACCCTGCGCAATC ACTAACACAAGGCATTCTCATAAAACACTAGAGCACCCTGCGCAATCACT AACACGAGGCATTCTCATAAAACACTAGAGCACCCTGTGCAATCACTAAC ACGAGGCATTCTCATAAAACACTAGAGCACCCTGCGCAATCACTAACACG AGGCATTCTCATAAAACACTAGAGCACCCTGCGCAATCACTAACACGAGG CATTCTCATAAAACACTAGAGCACCCTGCGCAATCACTAACACGAGGCAT TCTCATAACACACTAGAGCACCCTGCGCAATCACTAACACGAGGCATTCT CATAAAACACTAGAGCACCCTGCGCAATCAGTAACACGAGGCATTCTCAT AAAACACTAGAGCACCCTGCGCAATCACTAACACAAGTCGTTCTCATAAC ACACTAGAGCACCCTGCGCAATCACTAACACAAGGCATTCTCATAAAACA CTAGAGCACCCTGCGCAATCACTAACACAAGGCATTCTCATAAAACACTA GAGCACCCTGCGCAATCACTAACACG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	19/23			chr21	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(795): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACATT ATACATTATTATATAAGTATATGTAATACATTATACATTATTATATAAGT ATATGTAATATATATTATACATTATTATATAAGTATATGTAATATATATT ATA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	19	0.0526	802	c.24+ others(819): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACATTATACATTATTATATAAGTATATGTAATAC ATTATACATTATTATATAAGTATATGTAATATATATTATACATTATTATA TAAGTATATGTAATATATATTATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
ROBO2_chr3_77035099_77654964	77323064	T T	TATATTAT others(795): Show TATATTATGGATAATATAATATATTATATTATATTATGGATAATATAATA TATTATATTATATTATGGATAATATAATATATTATATTATATTATGGATA ATATAATATAATATATTATATTATCGATAATATAATATCTTATATTATGG ATAATATAATATATTATATTATGGATAATATATTATATTATGGATAATAT AATATATTATATTATGGATAATATATTATATTATGGATAATATATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGG ATAATATAATATATTATATTATGGATAATATATTATATTATGGATAATAT AATATATTATATTATGGATAATATATTATATTATGGATAATATAATATAT TATATTATGGATAATATATTATATTATGGATAATATATTATGGATAATAT ATTATATTATGGATAATATATTATGGATAATATATTATATTATGGATAAT ATATTATATTATGGATAATATATTATATTATGGATAATATAATATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATAATATATTATAT TATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTA TGGATAATATAATATATTATATTATGGATAATATAATATATTATATTATG GATAATATAATATATTATATTATGGATAATATAATATATTATATTATATT ATGGATAATATAATATAATATATCATATTATGGATAATATAATATAATAT ATC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	130	0.0077	802	c.389 others(823): Show c.389-154324_389-154323insATTATATTATGGATAATATAATAT ATTATATTATATTATGGATAATATAATATATTATATTATATTATGGATAA TATAATATAATATATTATATTATCGATAATATAATATCTTATATTATGGA TAATATAATATATTATATTATGGATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATATTATATTATGGATAATATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATATTATATTATGGATAATATAATATATT ATATTATGGATAATATATTATATTATGGATAATATATTATGGATAATATA TTATATTATGGATAATATATTATGGATAATATATTATATTATGGATAATA TATTATATTATGGATAATATATTATATTATGGATAATATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATAATATATTATATTATGGATAATATAATATATTATATTATGG ATAATATAATATATTATATTATGGATAATATAATATATTATATTATATTA TGGATAATATAATATAATATATCATATTATGGATAATATAATATAATATA TCATATTATGGATAATATAATATATTAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(795): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACAT ATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAA ATATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTT ATAAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAGTTT ATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTT ATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTT ATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTT ATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTA GTTTATAAATACATATTTATATATTTAATTTATAAATATATATTTATATA TTTAATTTATAAATATATATTTATATATTTAATTTATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0102 a0001c0001t0005g0102	1	27	0.0370	802	c.-75 others(821): Show c.-758+6731_-758+6732insATTTATCTATAAATTAAATATATAAA TATATATTTATCTATAAATTAAATATATAAATATATATTTATAAATTAAA TATATAAATATATATTTATAAATTAAATATATAAATATATATTTATAAAT TAAATATATAAATATGTATTTATAAACTAAATATATAAATATGTATTTAT AAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATGTAT TTATAAACTAAATATGTAAATATTTATAAACTAAATATGTAAATATGTAT TTATAAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATAT TTATAAACTAAATAAATATATATTTATAAACTAAATAAATATATATTTAT AAACTAAATATATAAATATATATTTATAAACTAAATATATAAATATATAT TTATAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATAT ATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAA ATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATAT ATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAA ATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAA CTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTA TAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATG TTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GCAGGAGG others(795): Show GCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACTGTGGGGACG TCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGAACAGGAGGA GGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGGAGGAGGAAG AGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAG GAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGA GGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGG TGCTAGGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGG AGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGA ACAGGTGCTAAGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAG ACAGCAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGG AGGAGGAGGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAG GAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGG AGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAG GCACAGGAGGAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAAGCACAGGA GGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA20752.hp1 HG01168.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0003 a0001c0007 a0002c0003	a0001c0007t0001 a0002c0003t0001 a0001c0007t0001 a0002c0003t0001	a0001c0007t0001g0011 a0002c0003t0001g0010 a0001c0007t0001g0011 a0002c0003t0001g0010	2	3	0.6667	802	c.-12 others(821): Show c.-127+9348_-127+9349insTCCTCCTGTGCTTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTATTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTTC TCCTCCTCTTCCTCCTCCTCCTGCTGTCTCCACTGCCCCTGGCATCTGGG ACGTCCCCACAGTGTCTTAGCACCTGTTCCTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTTCTCCTCCTCTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCTGGCAT CTGGGACGTCCCCACAGTGTCCTAGCACCTGTTCCTCCTCCTCCTCCTGT TCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTC CTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCGTCCTCCTGTTCTTCCTCTTCCTCCTCCTCCTCCTGTTCT TCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTC CTGTCTCCACTGCCCCGGCATCTGGGACGTCCCCACAGTGTCCTAGCACC TGTTTCTCCTCCTCCTCCTCCTCCTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCARA5_chr8_27864883_27997673	27918978	A A	AGGAGGAG others(795): Show AGGAGGAGGAGAAGGAGGAGGAGAAAGAGGAGGAGGAGGAAGAGGAGGAA GAGGAGAAAGAGGAGGAAAAGAAGGAGGAGGAGGAAGAGAAAAGGAGGAG GAGGGGAAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAAAAGGA GGAGGAGGGGAAGGAGGAGGAGAAGAAAGGGGAGAAAGAGGAGGAAAAGG AGGAGGAGAAGGAGGAGGAAGAGAAAAGGAGGAGGAGAGGGGAAGGAGGA GGAAAAGGAGAAGGAGGAACAGGAGGAGGAGAAGGAGGAGGAGGGGAAGG AGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGGAGGGGAAGGAG AAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAG AAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGGAGAAGGCAGAGGAGG AGGAGGAGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAGGAGGAGAAGGAA GAAAGGGCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGAGGAGGAGGGGAA AGAAGAGGATAAGGAAGAAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGG AGGGGAAGAAAGAGGAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGG AAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGG AGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGA ATAGAGGAGGAGGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGAAGAG AAG	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA19066.hp1 NA19091.hp1 NA18989.hp2 NA19066.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0001t0007 a0001c0009t0037 a0001c0001t0002 a0001c0001t0007 a0001c0009t0037	a0001c0001t0002g0070 a0001c0001t0007g0091 a0001c0009t0037g0069 a0001c0001t0002g0070 a0001c0001t0007g0091 a0001c0009t0037g0069	3	219	0.0137	802	c.916 others(819): Show c.916+2592_916+2593insCTTCTCTTCTCCTCCTCCCTTCTCTCCT CCTCCTCTATTCCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCC TCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCC TCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTC TCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTC TTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCTTTCTCCT CTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTC TCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTC CTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCT CCTCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTCCTTC TCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTC CTCCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTCTCCTCCTCCTT TTCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTT CTTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTTCCCCTCCT CCTCCTTTTCCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCT CCTTCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTCCTCCTCCTCT TTCTCCTCCTCCTTCTCCTCCTCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(795): Show TAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATATAAAATATATAT ACATATGTTTTATATGTGTATATATACACATATAAAATATATATACATAT GTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTTTA TATGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTG TATATATACACATATAAAATATATATACATATGTTTTATAAGTGTATATA TACACATATAAAATATATATACATATGTTTTATATGTGTATATATACACA TATAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAA ATATATATACATATGTTTTATATGTATATATACATATAAAATATATATAC ATATGTTTTATATGTATATATATACATATAAAATATATATACATATAAAA TATATACATATAAAATATATATGTTTTATATGTATATATACATATAAAAT ATATATACATATGTTTTATATGTATATATATACATATAAAACATATATAC ATATGTTTTATATGTATATATACATATAAAACATATATATATATGTTTTA TATGTATATATATACATATAAATATATATACATATGTTTTATATGTGTAT ATATACATAGAAAATATATATAATATATATACATATGTTTTATATGTATA TATATACATAGAAAATATATATACATATGTTTTATATGTATATATATACA TAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02717.hp2 HG03540.hp2 others(1): Show HG02647.hp2 HG02717.hp2 HG03540.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0010 a0001c0001t0003g0148 a0001c0001t0003g0149	4	161	0.0248	802	c.626 others(819): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATAAGTGTATATATACA CATATAAAATATATATACATATGTTTTATATGTGTATATATACACATATA AAATATATATACATATGTTTTATATGTGTATATATACACATATAAAATAT ATATACATATGTTTTATATGTATATATACATATAAAATATATATACATAT GTTTTATATGTATATATATACATATAAAATATATATACATATAAAATATA TACATATAAAATATATATGTTTTATATGTATATATACATATAAAATATAT ATACATATGTTTTATATGTATATATATACATATAAAACATATATACATAT GTTTTATATGTATATATACATATAAAACATATATATATATGTTTTATATG TATATATATACATATAAATATATATACATATGTTTTATATGTGTATATAT ACATAGAAAATATATATAATATATATACATATGTTTTATATGTATATATA TACATAGAAAATATATATACATATGTTTTATATGTATATATATACATAGA AAATATATATACATATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC22A11_chr11_64550941_64577875	64553258	G G	GGTGATGA others(795): Show GGTGATGATGGTGGTGGTGATGGTGATGGTGGTGGTGACGGTGATGATGG TGGTGACGGCAGTGATTGTGGTGATGGTGGTGATGGTGGTGGTGATGGTG ATGATGGTGATGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGGT GGTGATGGTGGTGGTGATGGTGATGATGGTGATGGTGATGGTGATGGTGG TGGTGATGGTGATGATGGTGGTGGTGATGGTGATCATGGTGGTGGTGATG GTGATGATGGTGGTGGTGATGGTGATCATGGTGGTGGTGATGGTGATGGT GGTGGTGATGGTGGTGATGGTGATGGTAGTGATTGTGGTGATGGTGATGG TGATGATAGTGATGGTGGTGGTGATGGTGATGATGGTGGTGGTGATGGTG ATGATGGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGGGGTGGTGTCATGGTAGCATGATGGTGTGCTGGTGCATGGTGATG TTGATCAGGTGGTGAGTGCATTGGCTGATGATGGTGCGTGGTGATGGTAG ATGCATGGTGGTTAGGTGATGGTGGTGCATTGGTGGTGATTGCTTGTGAT TTGTAGGGATTGTGTGCATGGTGAGTCTGGTGCATTCGATGGTGGTGGTG ACGGTGATGGTGGTCTGACAGGCTAGTGTAGTGGCTGATGGTGACTGATG GTGATGGCTGGTGATGCACTGGTGGTGATAGCTGATGGCTGGTGATGCAG CTGATGTGATGGTGCGTGCATGGCTAGTGATTGTAGGTGATGGTGATGCG TGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	382	0.0026	802	c.-27 others(813): Show c.-2742_-2741insGTGATGATGGTGGTGGTGATGGTGATGGTGGTGG TGACGGTGATGATGGTGGTGACGGCAGTGATTGTGGTGATGGTGGTGATG GTGGTGGTGATGGTGATGATGGTGATGATGGTGATGGTGATGGTGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGATGG TGATGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGGTGATGGTGATC ATGGTGGTGGTGATGGTGATGATGGTGGTGGTGATGGTGATCATGGTGGT GGTGATGGTGATGGTGGTGGTGATGGTGGTGATGGTGATGGTAGTGATTG TGGTGATGGTGATGGTGATGATAGTGATGGTGGTGGTGATGGTGATGATG GTGGTGGTGATGGTGATGATGGTGGTGGTGATGGTGATGGTGGTGGTGAT GGTGGTGGTGGTGGTGATGGGGGTGGTGTCATGGTAGCATGATGGTGTGC TGGTGCATGGTGATGTTGATCAGGTGGTGAGTGCATTGGCTGATGATGGT GCGTGGTGATGGTAGATGCATGGTGGTTAGGTGATGGTGGTGCATTGGTG GTGATTGCTTGTGATTTGTAGGGATTGTGTGCATGGTGAGTCTGGTGCAT TCGATGGTGGTGGTGACGGTGATGGTGGTCTGACAGGCTAGTGTAGTGGC TGATGGTGACTGATGGTGATGGCTGGTGATGCACTGGTGGTGATAGCTGA TGGCTGGTGATGCAGCTGATGTGATGGTGCGTGCATGGCTAGTGATTGTA GGTGATGGTGATGCGTGA	SLC22A11	ENSG00000168065.16	transcript	ENST00000301891.9	protein_coding		2682		chr11	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(795): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATTATATTTTATAATATATAT AAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTATAA TATATAATATATTATATTTTATAATATATAATATATTATATTTTATAATA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTTTATAATATATAATATATTATATTTTATATTATATAAGATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATAATATATAATATATTATATTTTATAATATATAATATATTATATTT TATATATATTATAAAATATAATATATTATATTTTATAATATATAATATAT CTT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	7	0.1429	802	c.17 others(821): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT TTTATAAAATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATATTATAATATGTAATATATATTATATATTATAATATATAATAT ATATTATATATTATAATATATAATATATATTATATATTATAAAATATAAT ATATATTACATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATATTACATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAATATATAATAT ATTATATATTATAATATATAATATATATTATATATTATAATATATAATAT ATATTATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
TMEM132D_chr12_129066726_129909025	129538914	A A	AGGTCAGA others(795): Show AGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGGTCAGAAG GAGCGTTGGCTACTAGTGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGC TACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGAC CCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGATCCCTGGCGAT AGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAG GAGCGTTGGCTACTAGTGACTCCTGGCGATAGGTCAGAAGGAGCGTTGGC TACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGAC CCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCGAT AGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAG GAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGC TACTAGTGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGAC CCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGAT AGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGGTCAGAAG GAGCGTTGGCTACTAGTGACCCCTGGCGATAGGGTCAGAAGGAGCGTTGG CTACTAGTGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGA CCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGA TAG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0072 a0001c0001t0016g0072	1	92	0.0109	802	c.969 others(819): Show c.969-7710_969-7709insCTATCGCCAGGGGTCACTAGTAGCCAAC GCTCCTTCTGACCTATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTG ACCTATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCCTATCGC CAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCAC TAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTAGCCAA CGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCT GACCTATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGC CAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCC TAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAA CGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCT GACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGC CAGGAGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCC TAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGATCACTAGTAGCCAA CGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCT GACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGC CAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCAC TAGTAGCCAACGCTCCTTCTGACC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8			chr12	TogoVar
TOLLIP_chr11_1269371_1314632	1287619	G G	GCCTCCCC others(795): Show GCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCGCCGC AGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCC CGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAC CCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCTCCGCCGCAGCCTCCCCG CCGCACCCTCTCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCC TCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCTCCGCC GCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTC CCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGC ACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCC CGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAG CCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCG CCGCAGCCTCACCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCC TCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGCAGCCTCACCGCC GCACCCTCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGCACCCTC CCCGCCGCACCCTCCCCGCCGCACCCGCCGCAGCCTCCCCGCCGCACCCT CCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCACCGCCG CAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0268 a0001c0001t0004g0268	1	261	0.0038	802	c.519 others(819): Show c.519+1004_519+1005insGTGCGGCGGTGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGC GGTGAGGCTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGG TGCGGCGGTGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGG GGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTG CGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGG AGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCG GCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAG GGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGC GGGGAGGGTGCGGCGGGGAGGCTGCGGCGGAGAGGGTGCGGCGGGGAGGC TGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGG GGAGGCTGCGGCGGAGAGGGTGCGGCGGGGAGGCTGCGGCGGAGAGGGTG CGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGG AGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCG GCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TRIML1_chr4_188134441_188152743	188151137	C C	CTGAGAAG others(795): Show CTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGT GAGAAGGGGAAGTGAGAGAAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGT GAGAAGAGGAATGAGAGTGGGGGTGAGAAGGGGAATGAGAGTGGGGGTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGA AGGGGAGTGAGAGTGGGGCTGAGAAGGGGAAGTGAGAGTGGGGGTGAGAA GGGGAATGAGAGTGGGGGTTGAGAGGGGGAGTGAGAGAGGGGGTGAGAAG GGAAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAG GGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGG GAGTGAGAGAGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGA GTGAGAGAGGGGTTGAGAAGGGGGAGTGAGAGAGGGGGTGAGAAGGGGAG TGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGGTGAGAAGGGGAGT GAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGATTGA GAGTGGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAG GAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGA GGGGTGAGAAGGGGAGTGAGAGTGGGGGGTGAGAAGGGGAGTGAGAGAGG GGTTGAGAAGGGGAGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGG GGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0032	1	180	0.0056	802	c.37 others(813): Show c.3765_*3766insTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGTGGGGGTGAGAAGGGGAAGTGAGAGAAGGGGTTGAGAAGGGG AGTGAGAGTGGGGGTGAGAAGAGGAATGAGAGTGGGGGTGAGAAGGGGAA TGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTG AGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGCTGAGAAGGGGAAGTGA GAGTGGGGGTGAGAAGGGGAATGAGAGTGGGGGTTGAGAGGGGGAGTGAG AGAGGGGGTGAGAAGGGAAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAG AGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAG AGGGGTTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGGAGTGAGAGTG GGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGGAGTGAGAGAGG GGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGG GGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGG TGAGAAGGGGATTGAGAGTGGGGGGTGAGAAGGGGAGTGAGAGTGGGGGT GAGAAGGGGAGTGAGGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTG AGAAGGGGAGTGAGAGGGGTGAGAAGGGGAGTGAGAGTGGGGGGTGAGAA GGGGAGTGAGAGAGGGGTTGAGAAGGGGAGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGAGTGGGGG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		3395		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188152560	G G	GGGGGTGT others(795): Show GGGGGTGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGGTGAGAA GGGGAGTGAGAGTGGGGGTGAGAAGGGGGTGTGAGAGTGGGGTGTGAGAA GGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGTTGAGAAGGG GAGTGAGAGTGGGGGTGAGAAGGGGAGTGTGAGAGGGGTTGAGAGGGGAG TGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTGGAGAAGGGGAGTG AGAGTGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTGAGAAGGGAGTGAGA GTGGGGGTTGTGAAGGGGTGTGTGAGAGAGGGTGTGAAGGGGAGTGAGAG TGGGGGTGAGAAGGGGAGTGAGTGTGGGGGGTGAGAAGGGGAGTGAGAGT GGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGG GGGTGAGAAGGGGAGTGAGAGTGGGGGGTGAGAGGGGAGTGAGAGTGGGG GGTGAGAAGGGGAGTGAGAGAGGGGGGTGAGAAGGGAAGTGAGAGTGGGG GTGAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGG TGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTG AGAAGGGGAGTGGAGTGGGGGGTGAGAAGGGGGAGTGAGAGAGGGGTTGA GAAGGGGAATGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGTGGTTGAGA AGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAGG GGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0152 a0001c0003t0002g0152	1	224	0.0045	802	c.51 others(813): Show c.5188_*5189insGGGGTGTGAGAGAGGGGTTGAGAAGGGGAGTGAG AGTGGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGGTGTGAG AGTGGGGTGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGA GAGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGTGAGAG GGGTTGAGAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGG TGGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAAGTGAGAGTGGGGGT GAGAAGGGAGTGAGAGTGGGGGTTGTGAAGGGGTGTGTGAGAGAGGGTGT GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGTGTGGGGGGTGAG AAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAA GGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGGTGAGAGG GGAGTGAGAGTGGGGGGTGAGAAGGGGAGTGAGAGAGGGGGGTGAGAAGG GAAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGG GAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGA GTGAGAGTGGGGGTGAGAAGGGGAGTGGAGTGGGGGGTGAGAAGGGGGAG TGAGAGAGGGGTTGAGAAGGGGAATGAGAGTGGGGGTGAGAAGGGGAGTG AGAGAGTGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAG AGAGGGGTTGAGAGGGGA	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4818		chr4	TogoVar
TRPM7_chr15_50552158_50691797	50679475	T T	TATATATA others(795): Show TATATATATATATTATATATATGTGTATATATATAATATATATATATATT ATATATATGTGTATATATATAATATATATATATATTATATATATGTGTAT ATATATAATATATATATATTATATATATGTGTATATATATAATATATATA TATATTATATATATGTGTATATATATAATATATATATATATTATATATAT GTGTATATATATAATATATATATATATTATATATATGTGTATATATATAA TATATATATATTATATATATGTGTATATATATAATATATATATTATATAT ATGTGTATATATATAATATATATATATTATATATATGTGTATATATATAA TATATATATATATTATATATATGTGTATATATATAATATATATATATATT ATATATATGTGTATATATATAATATATATATATTATATATATGTGTATAT ATATTATATATATATATTATATATATGTGTATATATATAATATATATATA TATTATATATATGTGTATATATATAATATATATATATTATATATATGTGT ATATATATAATATATATATATTATATATATGTGTATATATATAATATATA TATATATTATATATATGTGTATATATATAATATATATATATATTATATAT ATGTGTATATATATAATATATATATATATTATATATATGTGTATATATAT AATATATATATATTATATATATGTGTATATATATAATATATATATATTAT ATATGTGTATATATATAATATATATATATATTATATATATGTGTATATAT ATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0005 a0001c0001t0016g0005	1	345	0.0029	802	c.3+7 others(815): Show c.3+7055_3+7056ins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	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	1/38			chr15	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(795): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACAT ATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAA ATATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTT ATAAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAGTTT ATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTT ATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTT ATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTT ATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTA GTTTATAAATACATATTTATATATTTAATTTATAAATATATATTTATATA TTTAATTTATAAATATATATTTATATATTTAATTTATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0111 a0001c0001t0015g0111	1	24	0.0417	802	c.82+ others(817): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATT TAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATA TATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATT TATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATA TATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAA TATATATTTATATATTTAGTTTATAAATATATATTTATTTAGTTTATAAA TATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAA TATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAA TATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAA TACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTA TAAATACATATTTATATATTTAATTTATAAATATATATTTATATATTTAA TTTATAAATATATATTTATATATTTAATTTATAAATATATATTTATATAT TTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VEGFB_chr11_64229584_64244264	64237115	G G	GGGAGAGG others(795): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGACA GAC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	318	0.0031	802	c.375 others(815): Show c.375-72_375-71insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGACAGAC	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
ADPRHL1_chr13_113394611_113458488	113419038	C C	CCCCTTCC others(796): Show CCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTT CCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTC CCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCT TCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCT TCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTC CTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTC CTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCC CTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCT TCCTTCTTTTCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTCCT TCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTC CCCT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0038 a0001c0001t0046g0038	1	206	0.0049	803	c.106 others(822): Show c.1061+3787_1061+3788insAGGGGAAGGGGAAGAAAGGAAGGAAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAG GGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAG GGAGGGAAGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGA AGAAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGA AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGA AGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGG GAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAA GAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAG GGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAG GGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAA AAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAG GGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAAGGAAAAGAAGGAAGGGAAGGG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
BAHCC1_chr17_81390457_81471331	81426076	T T	TGATGATG others(796): Show TGATGATGTGGTTGGTGGTGATAATTGTGGGTGATGTGGTTGGGGGTGAT AGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGC AGTGATAGTGGCGGGTGATGTGGTTGGGGGTGATACTGGTGGGTGATGTG GTTGGTGGTGATGTGGCTGGTGGTGGTGGTTGTGGGTGATGTGGTTGGTG GTGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAG TGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGG GTGATGTGGTTGGTGTGATGTGGTTGGTGGTGATAGTGATGGGTGATGTG GTTGGGGGTGATGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGAT GTGGTTGGTGGTAATGTGGTTGGTGGTGATGTGGTTGGTGGTTATGTGGT TGGTGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGAT AGTGGTGGGTGATGTGGTTGGTGGTGATGTGGTTGGTGGTGATAGTGGTG GGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATG TGGTTGGTGATGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGG TGGTGATAGTCGTGGGTGATGTGGTTGGGGGTAATAGTGGTGGGTGATGT GGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGTCGTGGG TGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGT GGTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	42	0.0238	803	c.179 others(818): Show c.179-723_179-722insATGATGTGGTTGGTGGTGATAATTGTGGGT GATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTG GTGGGTGATGTGGTTGGCAGTGATAGTGGCGGGTGATGTGGTTGGGGGTG ATACTGGTGGGTGATGTGGTTGGTGGTGATGTGGCTGGTGGTGGTGGTTG TGGGTGATGTGGTTGGTGGTGATGTGGTTGGTGGTGATAGTGGTGGGTGA TGTGGTTGGTGGTGATAGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGT TGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGTGATGTGGTTGGTGGTG ATAGTGATGGGTGATGTGGTTGGGGGTGATGGTGGGTGATGTGGTTGGGG GTGATAGTGGTGGGTGATGTGGTTGGTGGTAATGTGGTTGGTGGTGATGT GGTTGGTGGTTATGTGGTTGGTGATGTGGTTGGTGGTGATAGTGGTGGGT GATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATGTGG TTGGTGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTG ATGTGGTTGGTGGTGATGTGGTTGGTGATGATGTGGTTGGTGGTGATAGT GGTGGGTGATGTGGTTGGTGGTGATAGTCGTGGGTGATGTGGTTGGGGGT AATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTT GGTGGTGATAGTCGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGAT GTGGTTGGGGGTGATAGTGGTGG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81426076	T T	TGGTGATG others(796): Show TGGTGATGTGGTTGGTGGTGATAATTGTGGGTGATGTGGTTGGGGGTGAT AGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGC AGTGATAGTGGCGGGTGATGTGGTTGGGGGTGATACTGGTGGGTGATGTG GTTGGTGGTGATGTGGCTGGTGGTGGTGGTTGTGGGTGATGTGGTTGGTG GTGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAG TGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGG GTGATGTGGTTGGTGTGATGTGGTTGGTGGTGATAGTGATGGGTGATGTG GTTGGGGGTGATGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGAT GTGGTTGGTGGTAATGTGGTTGGTGGTGATGTGGTTGGTGGTTATGTGGT TGGTGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGAT AGTGGTGGGTGATGTGGTTGGTGGTGATGTGGTTGGTGGTGATAGTGGTG GGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATG TGGTTGGTGATGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGG TGGTGATAGTCGTGGGTGATGTGGTTGGGGGTAATAGTGGTGGGTGATGT GGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGTCGTGGG TGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGT GGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0243 a0010c0014t0001g0243	1	42	0.0238	803	c.179 others(818): Show c.179-702_179-701insATTGTGGGTGATGTGGTTGGGGGTGATAGT GGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGCAGT GATAGTGGCGGGTGATGTGGTTGGGGGTGATACTGGTGGGTGATGTGGTT GGTGGTGATGTGGCTGGTGGTGGTGGTTGTGGGTGATGTGGTTGGTGGTG ATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGTGG TTGGTGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTG ATGTGGTTGGTGTGATGTGGTTGGTGGTGATAGTGATGGGTGATGTGGTT GGGGGTGATGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTG GTTGGTGGTAATGTGGTTGGTGGTGATGTGGTTGGTGGTTATGTGGTTGG TGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGT GGTGGGTGATGTGGTTGGTGGTGATGTGGTTGGTGGTGATAGTGGTGGGT GATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATGTGG TTGGTGATGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGG TGATAGTCGTGGGTGATGTGGTTGGGGGTAATAGTGGTGGGTGATGTGGT TGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGTCGTGGGTGA TGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGT GGGTGATGTGGTTGGTGGTGATA	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81426076	T T	TGGTGATG others(796): Show TGGTGATGTGGTTGGTGGTGATAATTGTGGGTGATGTGGTTGGGGGTGAT AGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGC GGTGATAGTGGCGGGTGATGTGGTTGGGGGTGATACTGGTGGGTGATGTG GTTGGTGGTGATGTGGCTGGTGGTGGTGGTTGTGGGTGATGCGGTTGGTG GTGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAG TGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGG GTGATGTGGTTGGTGTGATGTGGTTGGTGGTGATAGTGATGGGTGATGTG GTTGGGGGTGATGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGAT GTGGTTGGTGGTAATGTGGTTGGTGGTGATGTGGTTGGTGGTTATGTGGT TGGTGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGAT AGTGGTGGGTGATGTGGTTGGTGGTGATGTGGTTGGTGGTGATAGTGGTG GGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATG TGGTTGGTGATGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGG TGGTGATAGTCGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGT GGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGTCGTGGG TGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGT GGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp2 HG02723.hp1 others(3): Show HG01884.hp1 HG02647.hp2 HG02723.hp1 NA18980.hp2 NA18986.hp2 NA20129.hp1	a0001 a0003 a0014 others(1): Show a0001 a0003 a0014 a0055	a0001c0001 a0003c0018 a0014c0022 others(1): Show a0001c0001 a0003c0018 a0014c0022 a0055c0060	a0001c0001t0001 a0003c0018t0001 a0014c0022t0011 others(2): Show a0001c0001t0001 a0003c0018t0001 a0014c0022t0011 a0014c0022t0036 a0055c0060t0003	a0001c0001t0001g0320 a0003c0018t0001g0307 a0014c0022t0011g0322 others(3): Show a0001c0001t0001g0320 a0003c0018t0001g0307 a0014c0022t0011g0322 a0014c0022t0011g0323 a0014c0022t0036g0318 a0055c0060t0003g0189	6	47	0.1277	803	c.179 others(818): Show c.179-702_179-701insATTGTGGGTGATGTGGTTGGGGGTGATAGT GGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGCGGT GATAGTGGCGGGTGATGTGGTTGGGGGTGATACTGGTGGGTGATGTGGTT GGTGGTGATGTGGCTGGTGGTGGTGGTTGTGGGTGATGCGGTTGGTGGTG ATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGTGG TTGGTGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTG ATGTGGTTGGTGTGATGTGGTTGGTGGTGATAGTGATGGGTGATGTGGTT GGGGGTGATGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTG GTTGGTGGTAATGTGGTTGGTGGTGATGTGGTTGGTGGTTATGTGGTTGG TGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGT GGTGGGTGATGTGGTTGGTGGTGATGTGGTTGGTGGTGATAGTGGTGGGT GATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATGTGG TTGGTGATGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGG TGATAGTCGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGT TGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGTCGTGGGTGA TGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGT GGGTGATGTGGTTGGTGGTGATA	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
C4orf50_chr4_5954375_6023431	6004288	G G	GGTGATGG others(796): Show GGTGATGGTGGTGATGATGTGATGGTAATGGTGATGATGGTGATGGTGAT GATGTGGTGGTGATGGTGATGGTGACTGTGATGGTGATGGTGATGATGGT GATGGTGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGTT GATGATGGTGGTGATGGTGATGATGTGATGGCGATGATAGTGATGATGGT GATGATGGTGATGGTGATGATGTGATAGTGATGATGGTGATGATGCTGAT GGTGATGATGGTGATGGTGATGATGGTGATAGTGATGATGGTGATGGTGA TGATGGTGATGATGGTGATGATGGTGATGGTGATTATGGTGATGATGGGA TGGTGATGTTGATGATGGTGGTGATGGTGATGATGTGATGGCGATGATAG TGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATAGTGA TGATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG GTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGT GATGATGGTGATGATGGTGATGATGGTGACGGTGATGATGTGATGGTGAT GATGGTGATGATGGTGATGGTGATGGTGATGGTGATGATGGTGATGATGT TGATGATGGTGATGATGGTGATGGTGATGATGGTGATGATGTGATGGTGA TGATGTTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGATGGTGAT GATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0102 a0102	a0102c0112 a0102c0112	a0102c0112t0001 a0102c0112t0001	a0102c0112t0001g0015 a0102c0112t0001g0015	1	285	0.0035	803	c.963 others(820): Show c.963+3707_963+3708insTATCATCACCATCACCATCATCACCATC ATCACCATCATCAACATCATCACCATCATCACCATCACCATCATCACCAT CACCATCATCACCATCATCAACATCATCACCATCACATCATCACCATCAT CACCATCACCATCATCACCATCATCAACATCATCACCATCATCACCATCA CCATCACCATCACCATCATCACCATCATCACCATCACATCATCACCGTCA CCATCATCACCATCATCACCATCATCACCATCACCATCATCACCATCACC ATCATCACCATCATCACTATCATCACCATCACCATCACCATCATCACCAT CACCATCATCACCATCATCACCATCATCACTATCATCACCATCACATCAT CACCATCACCATCATCACCATCATCACTATCATCGCCATCACATCATCAC CATCACCACCATCATCAACATCACCATCCCATCATCACCATAATCACCAT CACCATCATCACCATCATCACCATCATCACCATCACCATCATCACTATCA CCATCATCACCATCACCATCATCACCATCAGCATCATCACCATCATCACT ATCACATCATCACCATCACCATCATCACCATCATCACTATCATCGCCATC ACATCATCACCATCACCACCATCATCAACATCACCATCACATCATCACCA TCACCATCATCACCATCATCACCATCACCATCATCACCATCACCATCACA GTCACCATCACCATCACCACCACATCATCACCATCACCATCATCACCATT ACCATCACATCATCACCACCATCAC	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C4orf50_chr4_5954375_6023431	6004348	A A	ATGTGGTG others(796): Show ATGTGGTGGTGATGGTGATGGTGACTGTGATGGTGATGGTGATGATGGTG ATGGTGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGTTG ATGATGGTGGTGATGGTGATGATGTGATGGCGATGATAGTGATGATGGTG ATGATGGTGATGGTGATGATGTGATAGTGATGATGGTGATGATGCTGATG GTGATGATGGTGATGGTGATGATGGTGATAGTGATGATGGTGATGGTGAT GATGGTGATGATGGTGATGATGGTGATGGTGATTATGGTGATGATGGGAT GGTGATGTTGATGATGGTGGTGATGGTGATGATGTGATGGCGATGATAGT GATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATAGTGAT GATAGTGATGATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATG GTGATGGTGATGATGGTGATGATGGTGACGGTGATGATGTGATGGTGATG ATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGAT GTTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGATGTGATGGT GATGATGTTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGA TGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGATGGTG ATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGCTGATGGTGAT GATG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0083 a0004c0003t0001g0083	1	77	0.0130	803	c.963 others(820): Show c.963+3647_963+3648insCATCATCACCATCAGCATCATCACCATC ACCATCATCACCATCATCACTATCATCACCATCACCATCATCACCATCAT CACCATCATCAACATCATCACCATCATCACCATCACCATCATCACCATCA CCATCATCACCATCATCAACATCATCACCATCACATCATCACCATCATCA CCATCACCATCATCACCATCATCAACATCATCACCATCATCACCATCACC ATCATCACCATCACCATCATCACCATCATCACCATCACATCATCACCGTC ACCATCATCACCATCATCACCATCACCATCATCACCATCACCATCATCAC CATCATCACTATCATCACCATCACCATCACCATCATCACCATCACCATCA TCACCATCATCACCATCATCACTATCATCACTATCATCACCATCACATCA TCACCATCACCATCATCACCATCATCACTATCATCGCCATCACATCATCA CCATCACCACCATCATCAACATCACCATCCCATCATCACCATAATCACCA TCACCATCATCACCATCATCACCATCATCACCATCACCATCATCACTATC ACCATCATCACCATCACCATCATCACCATCAGCATCATCACCATCATCAC TATCACATCATCACCATCACCATCATCACCATCATCACTATCATCGCCAT CACATCATCACCATCACCACCATCATCAACATCACCATCACATCATCACC ATCACCATCATCACCATCATCACCATCACCATCATCACCATCACCATCAC AGTCACCATCACCATCACCACCACA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C4orf50_chr4_5954375_6023431	6004348	A A	ATGTGGTG others(796): Show ATGTGGTGGTGATGGTGATGGTGACTGTGATGGTGATGGTGATGATGGTG ATGGTGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGTTG ATGATGGTGGTGATGGTGATGATGTGATGGCGATGATAGTGATGATGGTG ATGATGGTGATGGTGATGATGTGATAGTGATGATGGTGATGATGCTGATG GTGATGATGGTGATGGTGATGATGGTGATAGTGATGATGGTGATGGTGAT GATGGTGATGATGGTGATGATGGTGATGGTGATTATGGTGATGATGGGAT GGTGATGTTGATGATGGTGGTGATGGTGATGATGTGATGGCGATGATAGT GATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATAGTGAT GATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGG TGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGATGGTGATGATGGTGATGATGGTGACGGTGATGATGTGATGGTGATG ATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGAT GTTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGATGTGATGGT GATGATGTTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGA TGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGATGGTG ATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGCTGATGGTGAT GATG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0227 a0011c0014t0001g0227	1	77	0.0130	803	c.963 others(820): Show c.963+3647_963+3648insCATCATCACCATCAGCATCATCACCATC ACCATCATCACCATCATCACTATCATCACCATCACCATCATCACCATCAT CACCATCATCAACATCATCACCATCATCACCATCACCATCATCACCATCA CCATCATCACCATCATCAACATCATCACCATCACATCATCACCATCATCA CCATCACCATCATCACCATCATCAACATCATCACCATCATCACCATCACC ATCATCACCATCACCATCATCACCATCATCACCATCACATCATCACCGTC ACCATCATCACCATCATCACCATCATCACCATCACCATCATCACCATCAC CATCATCACCATCATCACTATCATCACCATCACCATCACCATCATCACCA TCACCATCATCACCATCATCACTATCATCACTATCATCACCATCACATCA TCACCATCACCATCATCACCATCATCACTATCATCGCCATCACATCATCA CCATCACCACCATCATCAACATCACCATCCCATCATCACCATAATCACCA TCACCATCATCACCATCATCACCATCATCACCATCACCATCATCACTATC ACCATCATCACCATCACCATCATCACCATCAGCATCATCACCATCATCAC TATCACATCATCACCATCACCATCATCACCATCATCACTATCATCGCCAT CACATCATCACCATCACCACCATCATCAACATCACCATCACATCATCACC ATCACCATCATCACCATCATCACCATCACCATCATCACCATCACCATCAC AGTCACCATCACCATCACCACCACA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C4orf50_chr4_5954375_6023431	6004348	A A	ATGTGGTG others(796): Show ATGTGGTGGTGATGGTGATGGTGACTGTGATGGTGATGGTGATGATGGTG ATGGTGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGTTG ATGATGGTGGTGATGGTGATGATGTGATGGCGATGATAGTGATGATGGTG ATGATGGTGATGGTGATGATGTGATAGTGATGATGGTGATGATGCTGATG GTGATGATGGTGATGGTGATGATGGTGATAGTGATGATGGTGATGGTGAT GATGGTGATGATGGTGATGATGGTGATGGTGATTATGGTGATGATGGGAT GGTGATGTTGATGATGGTGGTGATGGTGATGATGTGATGGCGATGATAGT GATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATAGTGAT GATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGG TGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGATGGTGATGATGGTGATGATGGTGACGGTGATGATGTGATGGTGATG ATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGAT GTTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGATGTGATGGT GATGATGTTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGA TGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGATGGTG ATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGCTGATGGTGAT GATG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01257.hp2 HG01891.hp2 others(7): Show HG00597.hp1 HG01257.hp2 HG01891.hp2 HG02559.hp1 HG02818.hp2 HG02922.hp2 HG03209.hp1 HG03225.hp1 NA18906.hp2 NA19043.hp2	a0004 a0009 a0021 others(3): Show a0004 a0009 a0021 a0039 a0079 a0081	a0004c0003 a0009c0010 a0021c0024 others(4): Show a0004c0003 a0009c0010 a0021c0024 a0021c0050 a0039c0025 a0079c0079 a0081c0069	a0004c0003t0001 a0009c0010t0001 a0021c0024t0001 others(4): Show a0004c0003t0001 a0009c0010t0001 a0021c0024t0001 a0021c0050t0001 a0039c0025t0001 a0079c0079t0001 a0081c0069t0001	a0004c0003t0001g0224 a0009c0010t0001g0267 a0009c0010t0001g0280 others(7): Show a0004c0003t0001g0224 a0009c0010t0001g0267 a0009c0010t0001g0280 a0021c0024t0001g0066 a0021c0024t0001g0205 a0021c0050t0001g0064 a0039c0025t0001g0065 a0039c0025t0001g0206 a0079c0079t0001g0028 a0081c0069t0001g0325	10	86	0.1163	803	c.963 others(820): Show c.963+3647_963+3648insCATCATCACCATCAGCATCATCACCATC ACCATCATCACCATCATCACTATCATCACCATCACCATCATCACCATCAT CACCATCATCAACATCATCACCATCATCACCATCACCATCATCACCATCA CCATCATCACCATCATCAACATCATCACCATCACATCATCACCATCATCA CCATCACCATCATCACCATCATCAACATCATCACCATCATCACCATCACC ATCATCACCATCACCATCATCACCATCATCACCATCACATCATCACCGTC ACCATCATCACCATCATCACCATCATCACCATCACCATCATCACCATCAC CATCATCACCATCATCACTATCATCACCATCACCATCACCATCATCACCA TCACCATCATCACCATCATCACCATCATCACTATCATCACCATCACATCA TCACCATCACCATCATCACCATCATCACTATCATCGCCATCACATCATCA CCATCACCACCATCATCAACATCACCATCCCATCATCACCATAATCACCA TCACCATCATCACCATCATCACCATCATCACCATCACCATCATCACTATC ACCATCATCACCATCACCATCATCACCATCAGCATCATCACCATCATCAC TATCACATCATCACCATCACCATCATCACCATCATCACTATCATCGCCAT CACATCATCACCATCACCACCATCATCAACATCACCATCACATCATCACC ATCACCATCATCACCATCATCACCATCACCATCATCACCATCACCATCAC AGTCACCATCACCATCACCACCACA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C4orf50_chr4_5954375_6023431	6004599	A A	ATGATGGT others(796): Show ATGATGGTGACGGTGATGATGTGATGGTGATGATGGTGATGATGGTGATG GTGATGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGAT GGTGATAATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGG TGATGATGTGATGGTGATGATGATGGTGATGGTGATGATGGTGATGGTGA TGATGGTGATGGTGGTGATGATGATGGTGATGTGATGGTAATGGTGATGA TGGTGATGGTGATGATGATGTGGTGGTGATGGTGATGCTGATGATGGTGA TGATGGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGATATTGATGGTGATGATATTGATGGT GATGATGGTGATGGTGATGATGTGATGGTGATGATGGTGATGATGGTGAT AGTTATGATGGTGATGGTGATGATGTTGATGATGGTGATGATGGTGATGA TGGTGATGGTGATGATGTGATGGTGATGATAGTGATGATGGTGATGATGG TGATGGTGATGATGGTGATGGTGATGGTGATGATGGTGATGATGGTGATG GTGATGATGGTGATGGTGATGATGGTGATGATGGTGATGATGGTGATGAT GGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGACGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGGTGATGGAGATGGAGATGTTG GTGATGATGGTGATGGTGGTGATGATGTGATGGTAATGGTGATGATGGTG ATGG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	196	0.0051	803	c.963 others(820): Show c.963+3396_963+3397insCCATCACCATCATCACCATTACCATCAC ATCATCACCACCATCACCATCATCACCAACATCTCCATCTCCATCACCAT CACCATCATCACCATCACCATCATCACCATCACCGTCATCATCACCATCA CCATCATCACCATCACCATCATCACCATCATCACCATCATCACCATCATC ACCATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCAC CATCACCATCACCATCATCACCATCACCATCATCACCATCATCACTATCA TCACCATCACATCATCACCATCACCATCATCACCATCATCACCATCATCA ACATCATCACCATCACCATCATAACTATCACCATCATCACCATCATCACC ATCACATCATCACCATCACCATCATCACCATCAATATCATCACCATCAAT ATCATCACCATCATCACCATCACCATCATCACCATCACCATCATCACCAT CATCACTATCATCACCATCACCATCATCACCATCATCAGCATCACCATCA CCACCACATCATCATCACCATCACCATCATCACCATTACCATCACATCAC CATCATCATCACCACCATCACCATCATCACCATCACCATCATCACCATCA CCATCATCATCACCATCACATCATCACCATCACCATCATCACCATCACCA TCATCACCATCATCACTATTATCACCATCACCATCATCACCATCATCACC ATCATCAACATCATCACCATCATCACCATCACCATCATCACCATCATCAC CATCACATCATCACCGTCACCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C4orf50_chr4_5954375_6023431	6004599	A A	ATGATGGT others(796): Show ATGATGGTGACGGTGATGATGTGATGGTGATGATGGTGATGATGGTGATG GTGATGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGAT GGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGG TGATGATGTGATGGTGATGATGATGGTGATGGTGATGATGGTGATGGTGA TGATGGTGATGGTGGTGATGATGATGGTGATGTGATGGTAATGGTGATGA TGGTGATGGTGATGATGATGTGGTGGTGATGGTGATGCTGATGATGGTGA TGATGGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGATATTGATGGTGATGATATTGATGGT GATGATGGTGATGGTGATGATGTGATGGTGATGATGGTGATGATGGTGAT AGTTATGATGGTGATGGTGATGATGTTGATGATGGTGATGATGGTGATGA TGGTGATGGTGATGATGTGATGGTGATGATAGTGATGATGGTGATGATGG TGATGGTGATGATGGTGATGGTGATGGTGATGATGGTGATGATGGTGATG GTGATGATGGTGATGGTGATGATGGTGATGATGGTGATGATGGTGATGAT GGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGACGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGGTGATGGAGATGGAGATGTTG GTGATGATGGTGATGGTGGTGATGATGTGATGGTAATGGTGATGATGGTG ATGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp2 HG00642.hp2 others(55): Show HG00597.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00741.hp2 HG01070.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01943.hp1 HG01952.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02735.hp1 HG03017.hp2 HG03239.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18944.hp1 NA18960.hp2 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18998.hp1 NA19001.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19064.hp1 NA19067.hp1 NA19079.hp1 NA19080.hp1 NA19084.hp2 NA19087.hp1 NA20905.hp1	a0001 a0002 a0004 others(11): Show a0001 a0002 a0004 a0005 a0006 a0008 a0011 a0028 a0029 a0032 a0045 a0055 a0073 a0093	a0001c0001 a0002c0002 a0004c0003 others(11): Show a0001c0001 a0002c0002 a0004c0003 a0005c0005 a0006c0006 a0008c0008 a0011c0014 a0028c0031 a0029c0030 a0032c0029 a0045c0085 a0055c0057 a0073c0114 a0093c0058	a0001c0001t0001 a0002c0002t0001 a0004c0003t0001 others(11): Show a0001c0001t0001 a0002c0002t0001 a0004c0003t0001 a0005c0005t0001 a0006c0006t0001 a0008c0008t0001 a0011c0014t0001 a0028c0031t0001 a0029c0030t0001 a0032c0029t0001 a0045c0085t0001 a0055c0057t0001 a0073c0114t0001 a0093c0058t0001	a0001c0001t0001g0004 a0001c0001t0001g0074 a0001c0001t0001g0075 others(53): Show a0001c0001t0001g0004 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0221 a0001c0001t0001g0226 a0002c0002t0001g0112 a0004c0003t0001g0083 a0004c0003t0001g0114 a0004c0003t0001g0115 a0004c0003t0001g0130 a0004c0003t0001g0131 a0004c0003t0001g0137 a0005c0005t0001g0085 a0005c0005t0001g0087 a0005c0005t0001g0136 a0005c0005t0001g0138 a0006c0006t0001g0111 a0006c0006t0001g0120 a0006c0006t0001g0128 a0006c0006t0001g0135 a0006c0006t0001g0170 a0006c0006t0001g0225 a0008c0008t0001g0129 a0011c0014t0001g0227 a0028c0031t0001g0218 a0029c0030t0001g0005 a0032c0029t0001g0073 a0045c0085t0001g0119 a0055c0057t0001g0039 a0073c0114t0001g0149 a0093c0058t0001g0058	58	253	0.2292	803	c.963 others(820): Show c.963+3396_963+3397insCCATCACCATCATCACCATTACCATCAC ATCATCACCACCATCACCATCATCACCAACATCTCCATCTCCATCACCAT CACCATCATCACCATCACCATCATCACCATCACCGTCATCATCACCATCA CCATCATCACCATCACCATCATCACCATCATCACCATCATCACCATCATC ACCATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCAC CATCACCATCACCATCATCACCATCACCATCATCACCATCATCACTATCA TCACCATCACATCATCACCATCACCATCATCACCATCATCACCATCATCA ACATCATCACCATCACCATCATAACTATCACCATCATCACCATCATCACC ATCACATCATCACCATCACCATCATCACCATCAATATCATCACCATCAAT ATCATCACCATCATCACCATCACCATCATCACCATCACCATCATCACCAT CATCACTATCATCACCATCACCATCATCACCATCATCAGCATCACCATCA CCACCACATCATCATCACCATCACCATCATCACCATTACCATCACATCAC CATCATCATCACCACCATCACCATCATCACCATCACCATCATCACCATCA CCATCATCATCACCATCACATCATCACCATCACCATCATCACCATCACCA TCATCACCATCATCACTATCATCACCATCACCATCATCACCATCATCACC ATCATCAACATCATCACCATCATCACCATCACCATCATCACCATCATCAC CATCACATCATCACCGTCACCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(796): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATTTTTTTTTTTTTT TTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGC TGGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02040.hp2 NA18957.hp1 HG01099.hp1 HG02040.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0002t0046 a0001c0001t0006 a0001c0002t0001 a0001c0002t0046	a0001c0001t0006g0141 a0001c0002t0001g0284 a0001c0002t0046g0285 a0001c0001t0006g0141 a0001c0002t0001g0284 a0001c0002t0046g0285	3	40	0.0750	803	c.248 others(820): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCT CTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar

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