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
MEGF6_chr1_3482951_3616508	3583358	G G	GCGCAGCC others(677): Show GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCCAC CAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAG CCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCACAGCCACCA GACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGA CAACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCAC CAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACGCGCAGCCACCAGACAACC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	246	0.0041	684	c.377 others(701): Show c.377-3430_377-3429insGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCG TTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG TGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGCG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583412	C C	CCGCAGCC others(677): Show CCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGA CAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAG CCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAG CCACCAGACAACGCACAGCCACCAGACAACGCACAGCCACCAGACAACGC GCAGCCACCAGACAACCCACAGCCACCAGACAACG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0002 a0014c0012t0002	a0014c0012t0002g0092 a0014c0012t0002g0092	1	152	0.0066	684	c.377 others(701): Show c.377-3484_377-3483insCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGCGTTGT CTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGG TTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG TGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGCG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583450	G G	GCAGCCAC others(677): Show GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCC GCAGCCACCAGACAACCCGCAGCCACCAGACAACGCACAGCCACCAGACA ACGCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCA GACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18975.hp1 NA18612.hp1 NA18975.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0021 a0002c0002t0001 a0003c0003t0021	a0002c0002t0001g0019 a0003c0003t0021g0044 a0002c0002t0001g0019 a0003c0003t0021g0044	2	248	0.0081	684	c.377 others(701): Show c.377-3522_377-3521insTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGCGGGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583450	G G	GCAGCCAC others(677): Show GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGA CAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCA GACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0128 a0010c0010t0001g0128	1	247	0.0040	684	c.377 others(701): Show c.377-3522_377-3521insTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGC TGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG TGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MICAL3_chr22_17782649_18029561	17876820	G G	GGGAGGTT others(677): Show GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAG GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAG TTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGG GAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTT ATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGA GGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTA TGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAT GGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGG TTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATG GAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	249	0.0040	684	c.224 others(703): Show c.2242-4798_2242-4797insATAACCTCCCTAACCTCCCTAACCTC CCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAA CCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCC CTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAAC CTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCC TAACCTCCATAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACC TCCCTAACCTCCATAACTTCCCTAACCTCCATAACCTCCATAACTTCCCT AACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCT CCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATA ACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTC CATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAA CCTCCATAACTTCCCTAACCTCCTTAACCTCCCTAACCTCCATAACCTCC CTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCA TAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877369	G G	GGGAGGTT others(677): Show GGGAGGTTATGGAGGTTAGGGAAGTTAGGGAGGTTATGGAGGTGAGGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGG GAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGG AGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTT ATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGA GGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGA GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGG TGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGATTATGGAGGTTAGG GAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0109 a0001c0001t0005g0109	1	159	0.0063	684	c.224 others(703): Show c.2242-5347_2242-5346insATAACCTCCATAACTTCCCTAACCTC CATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCCTAACCTCCATAA CCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCC CTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAAC CTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACC TCCATAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCAT AACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCT CCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTC ACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTC CATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAAC CTCCATAACCTCCCTCACCTCCATAACCTCCCTAACTTCCCTAACCTCCA TAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(677): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGC GGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGG CGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGA AGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGT GAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGA GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGG GGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGG GGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGT GGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGG GAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGGAG GGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGAGGG GGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGG GGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02922.hp1 HG02809.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0253 a0001c0001t0001g0246 a0001c0001t0001g0253	2	9	0.2222	684	c.250 others(699): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCC CTTCCCTCCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTC CCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCC CCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCC CTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCC CTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTC CCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCC CCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTT CCCCGCCCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCC TTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCC CCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MPG_chr16_73225_90846	81686	A A	ACTGACCC others(677): Show ACTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGC TCCCGGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCC TGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAA GCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCT CCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCAC CCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTC CCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCC CTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCG CTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCT CCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCT GAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAG GCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTC CGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACC CTATCTCCGGGAAGCCCTCCTGAATGCTCCCCGCG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	389	0.0026	684	c.301 others(701): Show c.301-1313_301-1312insGGCGCTGACCCCTTCTTCCCACCACCCT ATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCA CCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTT CTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTG GCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCC CACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAA TGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGG GAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTA CCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAAT GCTCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	81743	A A	ACTGACCC others(677): Show ACTGACCCCTTCTTCCCACCACCCTATCTCCAGGAAGGCCTCCTGAATGC TCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCC TGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAA GGCCTCGTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCT CCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCAC CCTATCTCCAGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTC CCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCC CTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCGGCG CTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCT CCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCT GAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAG GCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTC CGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACC CTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	158	0.0063	684	c.301 others(701): Show c.301-1284_301-1283insTCTCCAGGAAGGCCTCCTGAATGCTCCC CACACTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCC TCGTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTA TCTCCAGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCAC CACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCGGCGCTGA CCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAAT GCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTAC CTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACC ACCCTA	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	81826	T T	TCTCCGGG others(677): Show TCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACACTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGAC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCA CGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATG CTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	379	0.0026	684	c.301 others(701): Show c.301-1199_301-1198insCGCGCTGACCCCTTCTTCCCACCACCCT ACCTCCGGGAAGCCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCA CCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTT CTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTG ACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCC CGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA CCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGG CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	81857	G G	GCTGACCC others(677): Show GCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGC TCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCC TGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAA GGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCT CCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCAC CCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCACGCTGACCCCTTCTTC CCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCC CTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCG CTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCT CCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCT GAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAG GCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTC CGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACC CTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	375	0.0027	684	c.301 others(701): Show c.301-1165_301-1164insAGGAAGCCCTCCTGAATGCTCCCCGCGC TGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTC CCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTG AATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGC CCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCC AGGAAGCCCTCCTGAATGCTCCCCACGCTGACCCCTTCTTCCCACCACCC TATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCC ACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCT TCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACT GACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCC CCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGA ATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGC CTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCG GGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCT ACCTCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82089	G G	GCCCCTTC others(677): Show GCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCC CGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTA CCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACACTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG06807.hp1 HG03195.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0118 a0001c0002t0001g0119	2	307	0.0065	684	c.301 others(699): Show c.301-931_301-930insGCCTCCTGAATGCTCCCCGCGCTGACCCCT TCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCT GACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCC CCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGA ATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGC CTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCG GGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCT ACCTCCGGGAAGCCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCA CCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTT CTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTG ACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCC CGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAG	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82190	G G	GCTCCCCG others(677): Show GCTCCCCGCGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCT TCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGAC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATG CTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTC CTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGA AGCCCTCCTGAATACTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCA CCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTT CCCACCACCCTACCTCCGGGAAGGCCTCCTGAATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0113	1	429	0.0023	684	c.301 others(699): Show c.301-850_301-849insGCCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATG CTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTC CTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGA AGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGCCCTCCTGAATACTCCCCGCGCTGACCCCTTCTTCCCACCA CCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTT CCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGACC CCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATACTCCCCGC GCTG	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MRPS9_chr2_105033069_105104960	105055529	C C	CGCATTTT others(677): Show CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGACCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGACCCCTTTTGGTATCGCATTTTATTA AATATAGCGGACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCC CTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGC CCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTG CATTTTATTAAATATAGCGGGCCCCTTTTGGTATT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0154 a0002c0005t0001g0154	1	147	0.0068	684	c.315 others(701): Show c.315+6214_315+6215insCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGACCCCTTTTGGTATCGCATTTTATTA AATATAGCGGACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGACCC CTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGC CCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTG CATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATA TAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTT TGGTAT	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPS9_chr2_105033069_105104960	105055529	C C	CGCATTTT others(677): Show CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGACCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGACCCCTTTTGGTATCGCATTTTATTA AATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCC CTTTTGGTATCGCATTTTATTAAATATAGCGGACCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGC CCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTG CATTTTATTAAATATAGCGGGCCCCTTTTGGTATT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	147	0.0068	684	c.315 others(701): Show c.315+6214_315+6215insCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGACCCCTTTTGGTATCGCATTTTATTA AATATAGCGGACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCC CTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGACCCCTTTTGGTATCGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGC CCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTG CATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATA TAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTT TGGTAT	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPS9_chr2_105033069_105104960	105055529	C C	CGCATTTT others(677): Show CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGACCCCTTTTGGTATCGCATTTTATTA AATATAGCGGACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCC CTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGACCCCTTTTGGTATCGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGC CCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTG CATTTTATTAAATATAGCGGGCCCCTTTTGGTATT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	147	0.0068	684	c.315 others(701): Show c.315+6214_315+6215insCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTA AATATAGCGGACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGACCC CTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATA GCGGACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGC CCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTG CATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATA TAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTT TGGTAT	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPS9_chr2_105033069_105104960	105055529	C C	CGCATTTT others(677): Show CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGACCCCTTTTGGTATCGCATTTTATTA AATATAGCGGACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCC CTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGACCCCTTTTGGTATCGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGC CCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTG CATTTTATTAAATATAGCGGGCCCCTTTTGGTATT	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA19077.hp1 HG00741.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0242 a0001c0001t0001g0197 a0001c0001t0001g0242	2	148	0.0135	684	c.315 others(701): Show c.315+6214_315+6215insCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTA AATATAGCGGACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGACCC CTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATA GCGGACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGC CCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTG CATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATA TAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTT TGGTAT	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPS9_chr2_105033069_105104960	105055529	C C	CGCATTTT others(677): Show CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGACCCCTTTTGGTATCGCATTTTATTA AATATAGCGGACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCC CTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGACCCCTTTTGGTATTGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGC CCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTG CATTTTATTAAATATAGCGGGCCCCTTTTGGTATT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02523.hp2 HG00673.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0186 a0001c0001t0001g0193	2	148	0.0135	684	c.315 others(701): Show c.315+6214_315+6215insCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTA AATATAGCGGACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGACCC CTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATA GCGGACCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGC CCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTG CATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATA TAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTT TGGTAT	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPS9_chr2_105033069_105104960	105055529	C C	CGCATTTT others(677): Show CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGACCCCTTTTGGTATCGCATTTTATTA AATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCC CTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGACCCCTTTTGGTATTGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGC CCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTG CATTTTATTAAATATAGCGGGCCCCTTTTGGTATT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	147	0.0068	684	c.315 others(701): Show c.315+6214_315+6215insCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTA AATATAGCGGACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCC CTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATA GCGGACCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGC CCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTG CATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATA TAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTT TGGTAT	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTTP_chr4_99569824_99628997	99588871	A A	ACATATAT others(677): Show ACATATATATGTTCATATATATTCATATATATATGTTCATATATATTCAT ATATATGTTCATATATATATTCATATATATGTTCATATATATTCATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0176 a0003c0003t0010g0176	1	277	0.0036	684	c.394 others(699): Show c.394-763_394-762insGTTCATATATATTCATATATATATGTTCAT ATATATTCATATATATGTTCATATATATATTCATATATATGTTCATATAT ATTCATATATATGTTCATATATATATTCATATATATGTTCATATATATAT TCATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(677): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATGT TCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	165	0.0061	684	c.394 others(699): Show c.394-608_394-607insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATGTT CATATATATATTCATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATGTTCATATATATGTTCATATATATATGTTCATA TATATGTTCATATATATATGTTCATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MYRIP_chr3_39804609_40265321	40203833	A A	ATAAATAT others(677): Show ATAAATATATAATATATATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTAATATATAAATATTTATATTTTATATATTTATAT ATTTTATGATTTTATAAAATATATAATTTATATAATAATTTTATAAATTA TATAATTTATATATTATATATAATATATTTATATTAAATATATATTTATA TATTATATATAATATATTTATATTAAATATATATTTATATATTATATATA ATATATTTATATTAAATATATATATTATATATAATATATTTATATTAAAT ATATTATATATAATATATTTATATTAAATATTATATATTTATATATTATA TATTTATATTAAATATTATATATTTATGTTATATAATATATTTATATTAA ATATTATATATTTATATATTATATATAATATATTTATATTAAATGTTATA TATTTATATATTATATATAATATATTTATATTAAATGTTATATATTTATA TATTATATATAATATATTTATATTAAATGTTATATATTTATATATTATAT ATAATATATTTATATTAAATATTATATATTTATATATTATATATAATATA TTTATATTAAATATTATATATTTATATATTATATATATTTATATTGAATA TTATATATTTATATATTATATAAATATTATATATT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03130.hp2 NA18906.hp1 HG02559.hp1 HG03130.hp2 NA18906.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0006 a0002c0012t0006	a0002c0012t0006g0087 a0002c0012t0006g0091 a0002c0012t0006g0092 a0002c0012t0006g0087 a0002c0012t0006g0091 a0002c0012t0006g0092	3	93	0.0323	684	c.166 others(703): Show c.1666-6019_1666-6018insAATATATAATATATATTTATATATAA ATATTTATATTTTATATATTTATATATTTTATATATTAATATATAAATAT TTATATTTTATATATTTATATATTTTATGATTTTATAAAATATATAATTT ATATAATAATTTTATAAATTATATAATTTATATATTATATATAATATATT TATATTAAATATATATTTATATATTATATATAATATATTTATATTAAATA TATATTTATATATTATATATAATATATTTATATTAAATATATATATTATA TATAATATATTTATATTAAATATATTATATATAATATATTTATATTAAAT ATTATATATTTATATATTATATATTTATATTAAATATTATATATTTATGT TATATAATATATTTATATTAAATATTATATATTTATATATTATATATAAT ATATTTATATTAAATGTTATATATTTATATATTATATATAATATATTTAT ATTAAATGTTATATATTTATATATTATATATAATATATTTATATTAAATG TTATATATTTATATATTATATATAATATATTTATATTAAATATTATATAT TTATATATTATATATAATATATTTATATTAAATATTATATATTTATATAT TATATATATTTATATTGAATATTATATATTTATATATTATATAAATATTA TATATTTA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NDUFA3_chr19_54097855_54112568	54109797	C C	CTCCACCC others(677): Show CTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGGCC CTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCC CAGCGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCC CCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGG CCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGT CCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAG CCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCC GGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCAC AGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCAC CCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCCTTCCACCCGGCCCTCCCT CAGTCCCAGCGCACAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGC ACAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCC ACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	184	0.0054	684	c.28 others(695): Show c.2895_*2896insTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGC CCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCG GCCCTCCCTCAGTCCCAGCGCTCAGCCCTCTCCACCCGGCCCTCCCTCAG TCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACA GCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACC CGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTC AGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCA CAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCA CCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCC TCAGTCCCAGCGCACAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCG CACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCCTTC CACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGGCCCTC CCTCAGTCCCAGCGCACAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAG CGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCCT	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		2230		chr19	TogoVar
NFATC1_chr18_79390930_79534323	79505662	T T	TGGAAGAG others(677): Show TGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCT TGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGG AGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTG GTGGATGAGACCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGTGTGGGA GGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTG CGTGGGAGGAGGTGGTGGACGAGACCCTTGGGTGATGGAAGAGGCAGGAG ACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAG GCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAG GGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGGACGAGACCCTT GGGTGATGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGA GGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGG TGGATGAGACCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAG GAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGT GTGGGAGGAGGTGGTGGATGAGACCCTTGGGTGAG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0059 a0002c0002t0059	a0002c0002t0059g0069 a0002c0002t0059g0069	1	137	0.0073	684	c.278 others(705): Show c.2782+18803_2782+18804insCGTGGGAGGAGGTGGTGCTGGAGG CCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTG GATGAGACCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGTGTGGGAGGA GGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGT GGGAGGAGGTGGTGGACGAGACCCTTGGGTGATGGAAGAGGCAGGAGACT GCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCA GGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGA AGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGGACGAGACCCTTGGG TGATGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGC CCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGG ATGAGACCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAG GTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTG GGAGGAGGTGGTGGATGAGACCCTTGGGTGAGGGAAGAGGCAGGAGACTG CTGTGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAG GAGACTGCTG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79505662	T T	TGGAAGAG others(677): Show TGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCT TGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGGATG AGACCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTG GTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGA GGAGGTGGTGGATGAGACCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTG CGTGGGAGGAGGTGGTGGACGAGACCCTTGGGTGATGGAAGAGGCAGGAG ACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAG GCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAG GGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGGATGAGACCCTT GGGTGATGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGGACGA GACCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGG TGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAG GAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGT GTGGGAGGAGGTGGTGGATGAGACCCTTGGGTGAG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	137	0.0073	684	c.278 others(705): Show c.2782+18917_2782+18918insTGTGGGAGGAGGTGGTGGATGAGA CCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTG GACGAGACCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGTGTGGGAGGA GGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGT GGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACT GCTGTGTGGGAGGAGGTGGTGGATGAGACCCTTGGGTGATGGAAGAGGCA GGAGACTGCTGCGTGGGAGGAGGTGGTGGACGAGACCCTTGGGTGATGGA AGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGG TGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGC CCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGG ATGAGACCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAG GTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTG GGAGGAGGTGGTGGATGAGACCCTTGGGTGAGGGAAGAGGCAGGAGACTG CTGTGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAG GAGACTGCTG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79505719	G G	GGGAAGAG others(677): Show GGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCT TGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGGATG AGACCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTG GTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGA GGAGGTGGTGCTGGAGGCCCTTGGGTGATGGAAGAGGCAGGAGACTGCTG CGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAG ACTGCTGCGTGGGAGGAGGTGATGCTGGAGGCCCTTGGGTGATGGAAGAG GCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAG GGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGGATGAGACCCTT GGGTGATGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGA GGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGA TGCTGGAGGCCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGCGTGGGAG GAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGC GTGGGAGGAGGTGATGCTGGAGGCCCTTGGGTGAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0053 a0001c0018t0053	a0001c0018t0053g0059 a0001c0018t0053g0059	1	319	0.0031	684	c.278 others(705): Show c.2782+18803_2782+18804insCGTGGGAGGAGGTGGTGCTGGAGG CCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTG GATGAGACCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGA GGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGT GGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGATGGAAGAGGCAGGAGACT GCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCA GGAGACTGCTGCGTGGGAGGAGGTGATGCTGGAGGCCCTTGGGTGATGGA AGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGG TGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGGATGAGAC CCTTGGGTGATGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGC TGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAG GTGATGCTGGAGGCCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGCGTG GGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTG CTGCGTGGGAGGAGGTGATGCTGGAGGCCCTTGGGTGATGGAAGAGGCAG GAGACTGCTG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(677): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGACCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCAGTCCCTCCC CACAGAGCCCCCCAGTCCCTCCCCACAGAGCCAAGTCCCTCCCCACAGAG CCCCCCAGTCCCTCCCCAGAGCCCCTCAGTCCCTCCCCACAGAGCCCCCC AGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTC CGTCCCCACAGAGCCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCT CCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCC ACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCACAGA GCCCGAGTCCGTCCCCACAGAGCCCCCACTCCCTCCCCACAGAGCCCCCA AGTCCGTCCCCACAGGCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC CCCCCACAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACACCAGG CTCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCG AGTCTGTCCCCACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0002 a0001c0028t0002	a0001c0028t0002g0126 a0001c0028t0002g0126	1	8	0.1250	684	c.140 others(701): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGAGCCTGGTGTCCAGTGGGGCCTGTGGGGACAGACTCGGGGGCTCT GTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGCCTGTGGGG ACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTCTGTGGGGACGGA CTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGG GCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTC TGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGT GGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGG AGGGACTGGGGGGCTCTGTGGGGAGGGACTGAGGGGCTCTGGGGAGGGAC TGGGGGGCTCTGTGGGGAGGGACTTGGCTCTGTGGGGAGGGACTGGGGGG CTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCT GTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGG GGAGGGACTGGGGGGGTCTGTGGGGAGGGACTGGGGGCTCTGTGGGGAGG GACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPDC1_chr9_137034463_137051177	137050042	G G	GCCGCCAC others(677): Show GCCGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGTTCCCAGCCACCCGC CTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAG CCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCC CTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACTCACGACAAA GTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCC GCCTATCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCC ACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCC AGCCACCCGCCTGCCCTTACCCACGACAAAGTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01975.hp1 HG01192.hp2 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0028	2	327	0.0061	684	c.-40 others(695): Show c.-4054_-4053insGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAA CTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTA GGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTG GCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGT CGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCA GGCGGGTGGCTGGGAACTTTGTCGCGAGTAGGGGCAGGCGGGTGGCTGGG AACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGG TAGGGATAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGA CAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCGG	NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding		3866		chr9	TogoVar
NPRL3_chr16_80386_143673	81743	A A	ACTGACCC others(677): Show ACTGACCCCTTCTTCCCACCACCCTATCTCCAGGAAGGCCTCCTGAATGC TCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCC TGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAA GGCCTCGTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCT CCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCAC CCTATCTCCAGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTC CCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCC CTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCGGCG CTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCT CCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCT GAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAG GCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTC CGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACC CTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	132	0.0076	684	c.49 others(695): Show c.4961_*4962insCGCGGGGAGCATTCAGGAGGGCTTCCTGGAGGTA GGGTGGTGGGAAGAAGGGGCCAGCGTGGGGAGCATTCAGGAGGCCTTCCC GGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCGTGGGGAGCATTCAGGAGG CCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGTGTGGGGAGCATT CAGGAGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGG GAGCATTCAGGAGGCCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCA GCGCCGGGAGCATTCAGGAGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAA GGGGTCAGTGTGGGGAGCATTCAGGAGGCCTTCCCGGAGATAGGGTGGTG GGAAGAAGGGGTCAGTGTGGGGAGCATTCAGGAGGCCTTCCTGGAGATAG GGTGGTGGGAAGAAGGGGTCAGTGTGGGGAGCATTCAGGAGGCCTTCCCG GAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCACGAGGC CTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTC AGGAGGCCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGTGTGGGG AGCATTCAGGAGGCCTTCCTGGAGATAGGGTGGTGGGAAGAAGGGGTCAG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3642		chr16	TogoVar
NPRL3_chr16_80386_143673	81826	T T	TCTCCGGG others(677): Show TCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACACTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGAC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCA CGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATG CTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	295	0.0034	684	c.48 others(695): Show c.4878_*4879insGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGA GCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGC GTGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGG GGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGG AAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGG TGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGA GGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCT TCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAG GAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAG CATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCG CGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGG GTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGA AGAAGGGGTCAGTGTGGGGAGCATTCAGGAGGGCTTCCCGGAGGTAGGGT GGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3559		chr16	TogoVar
NPRL3_chr16_80386_143673	81857	G G	GCTGACCC others(677): Show GCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGC TCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCC TGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAA GGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCT CCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCAC CCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCACGCTGACCCCTTCTTC CCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCC CTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCG CTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCT CCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCT GAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAG GCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTC CGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACC CTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	299	0.0033	684	c.48 others(695): Show c.4847_*4848insTGTGGGGAGCATTCAGGAGGCCTTCCCGGAGATA GGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCC GGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGG CCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATT CAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGTGTGGG GAGCATTCAGGAGGCCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCA GCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAA GGGGTCAGTGTGGGGAGCATTCAGGAGGCCTTCCCGGAGATAGGGTGGTG GGAAGAAGGGGTCAGCGTGGGGAGCATTCAGGAGGGCTTCCTGGAGGTAG GGTGGTGGGAAGAAGGGGCCAGCGTGGGGAGCATTCAGGAGGGCTTCCCG GAGGTAGGGTGGTGGGAAGAAGGGGCCAGCGTGGGGAGCATTCAGGAGGC CTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCGTGGGGAGCATTC AGGAGGGCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGG AGCATTCAGGAGGGCTTCCTGGAGGTAGGGTGGTGGGAAGAAGGGGTCAG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3528		chr16	TogoVar
NPRL3_chr16_80386_143673	82190	G G	GCTCCCCG others(677): Show GCTCCCCGCGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCT TCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGAC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATG CTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTC CTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGA AGCCCTCCTGAATACTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCA CCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTT CCCACCACCCTACCTCCGGGAAGGCCTCCTGAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	338	0.0030	684	c.45 others(695): Show c.4514_*4515insTATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGG GAAGAAGGGGTCAGCGCCGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGG GTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGG AGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGTATTCAGGAGGGC TTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGTGTGGGGAGCATTCA GGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGA GCATTCAGGAGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGC GCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGG GGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGG AAGAAGGGGCCAGCGTGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGG TGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGGCTTCCCGGA GGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCT TCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAG GAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCGCGGGGAG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3195		chr16	TogoVar
NXN_chr17_794310_984776	940884	A A	AACACCTT others(677): Show AACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAA CTCACATCACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAG CCATGAACTCACATCACACCTTCCTGGATTTACAGTGAACAAGATTCCAG GGTGCAGCCATGAACTCACATCACACCTTCCTGGATTTACAGTGAACAAG ATTCCAGGGTGCAGCCATGAATTCACCAAACACCTCCCTGGATTTCCAGC GAACAAGATTCCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGAT TTACAGTGAACAAGATTCCAGGGTGCAGCCATGAACTCACATCACACCTT CCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAACTCACATC ACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAAC TCACATCACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGC CATGAATTCACCAAACACCTCCCTGGATTTCCAGCGAACAAGATTCCAGG GTGCAGCCATGAATTCACCAAACACCTTCCTGGATTTACAGTGAACAAGA TTCCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGATTTACAGTG AACAAGATTCCAGGGTGCAGCCATGAACTCACATC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00733.hp2 others(23): Show HG00323.hp1 HG00639.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01975.hp2 HG02132.hp2 HG02735.hp1 HG02922.hp2 HG03486.hp2 HG03579.hp2 HG03654.hp1 HG03831.hp2 HG04204.hp2 NA18939.hp2 NA18999.hp1 NA19009.hp2 NA19043.hp1 NA19088.hp1 NA19240.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0019 a0001c0001t0022 a0002c0004t0004 a0002c0004t0009	a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0086 others(23): Show a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0086 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0195 a0001c0001t0001g0217 a0001c0001t0002g0079 a0001c0001t0003g0143 a0001c0001t0003g0180 a0001c0001t0003g0184 a0001c0001t0003g0199 a0001c0001t0004g0045 a0001c0001t0004g0228 a0001c0001t0005g0055 a0001c0001t0005g0108 a0001c0001t0005g0161 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0006g0202 a0001c0001t0015g0239 a0001c0001t0015g0240 a0001c0001t0019g0004 a0001c0001t0022g0150 a0002c0004t0004g0197 a0002c0004t0009g0198	26	228	0.1140	684	c.360 others(703): Show c.360+38434_360+38435insGATGTGAGTTCATGGCTGCACCCTGG AATCTTGTTCACTGTAAATCCAGGAAGGTGTGATGTGAGTTCATGGCTGC ACCCTGGAATCTTGTTCACTGTAAATCCAGGAAGGTGTTTGGTGAATTCA TGGCTGCACCCTGGAATCTTGTTCGCTGGAAATCCAGGGAGGTGTTTGGT GAATTCATGGCTGCACCCTGGAATCTTGTTCACTGTAAATCCAGGAAGGT GTGATGTGAGTTCATGGCTGCACCCTGGAATCTTGTTCACTGTAAATCCA GGAAGGTGTGATGTGAGTTCATGGCTGCACCCTGGAATCTTGTTCACTGT AAATCCAGGAAGGTGTGATGTGAGTTCATGGCTGCACCCTGGAATCTTGT TCACTGTAAATCCAGGAAGGTGTGATGTGAGTTCATGGCTGCACCCTGGA ATCTTGTTCGCTGGAAATCCAGGGAGGTGTTTGGTGAATTCATGGCTGCA CCCTGGAATCTTGTTCACTGTAAATCCAGGAAGGTGTGATGTGAGTTCAT GGCTGCACCCTGGAATCTTGTTCACTGTAAATCCAGGAAGGTGTGATGTG AGTTCATGGCTGCACCCTGGAATCTTGTTCACTGTAAATCCAGGAAGGTG TGATGTGAGTTCATGGCTGCACCCTGGAATCTTGTTCACTGTAAATCCAG GAAGGTGT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	940884	A A	AACACCTT others(677): Show AACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAA CTCACATCACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAG CCATGAACTCACATCACACCTTCCTGGATTTACAGTGAACAAGATTCCAG GGTGCAGCCATGAACTCACATCACACCTTCCTGGATTTACAGTGAACAAG ATTCCAGGGTGCAGCCATGAATTCACCAAACACCTCCCTGGATTTCCAGC GAACAAGATTCCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGAT TTACAGTGAACAAGATTCCAGGGTGCAGCCATGAACTCACATCACACCTT CCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAA ACACCTTCCTGGATTTCCAGTGAACAAGATTCCAGGGTGCAGCCATGAAC TCACATCACACCTTCCTGGATTTACAGCGAACAAGATTCCAGGGCGCAGC CATGAACTCACCAAACACCTTCCTGGATTTACAGTGAACAAGATTCCAGG GTGCAGCCATGAATTCACCAAACACCTCCCTGGATTTACAGTGAACAAGA TTCCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGATTTACAGTG AACAAGATTCCAGGGTGCAGCCATGAACTCACATC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	203	0.0049	684	c.360 others(703): Show c.360+38434_360+38435insGATGTGAGTTCATGGCTGCACCCTGG AATCTTGTTCACTGTAAATCCAGGAAGGTGTGATGTGAGTTCATGGCTGC ACCCTGGAATCTTGTTCACTGTAAATCCAGGGAGGTGTTTGGTGAATTCA TGGCTGCACCCTGGAATCTTGTTCACTGTAAATCCAGGAAGGTGTTTGGT GAGTTCATGGCTGCGCCCTGGAATCTTGTTCGCTGTAAATCCAGGAAGGT GTGATGTGAGTTCATGGCTGCACCCTGGAATCTTGTTCACTGGAAATCCA GGAAGGTGTTTGGTGAATTCATGGCTGCACCCTGGAATCTTGTTCACTGT AAATCCAGGAAGGTGTGATGTGAGTTCATGGCTGCACCCTGGAATCTTGT TCACTGTAAATCCAGGAAGGTGTGATGTGAGTTCATGGCTGCACCCTGGA ATCTTGTTCGCTGGAAATCCAGGGAGGTGTTTGGTGAATTCATGGCTGCA CCCTGGAATCTTGTTCACTGTAAATCCAGGAAGGTGTGATGTGAGTTCAT GGCTGCACCCTGGAATCTTGTTCACTGTAAATCCAGGAAGGTGTGATGTG AGTTCATGGCTGCACCCTGGAATCTTGTTCACTGTAAATCCAGGAAGGTG TGATGTGAGTTCATGGCTGCACCCTGGAATCTTGTTCACTGTAAATCCAG GAAGGTGT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OSGIN1_chr16_83948240_83971332	83950351	A A	ACACACGT others(677): Show ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACGTACACGCACACATGAGCACATGTGCACACATGCACATACAT ACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACACACACATGCACACATGAGCACATGTGCAC ACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGT GCACACATGCACATACATACTGGCACACGTACACGCACACATGAGCACAT GTGCACACATGCACATACATACTGGCACACACGTACATGCACACATGAGC ACATGTGCACACATGCACATACATACTGGCACACACGTACACACACATGC ACACATGAGCACATGTGCACACATGCACATACATACTGGCACACGTACAT GCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACGTAC ACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACAC GTACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCAC ACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATACCG GCACACGTACACACATGCACACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19091.hp2 NA19065.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0047 a0001c0001t0001g0049	2	333	0.0060	684	c.-30 others(695): Show c.-3052_-3051insCACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCA CACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATG TGCACACATGCACATACATACTGGCACACACGTACACACACATGCACACA TGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACATGCA CACATGAGCACATGTGCACACATGCACATACATACTGGCACACGTACACG CACACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTA CATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACA CGTACACACACATGCACACATGAGCACATGTGCACACATGCACATACATA CTGGCACACGTACATGCACACATGAGCACATGTGCACACATGCACATACA TACTGGCACACGTACACGCACACATGAGCACATGTGCACACATGCACATA CATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCA CATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACA TGCACATACATACCGGCACACGTACACACATGCACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2888		chr16	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(677): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCAC CTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCC TGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCTC ACCTGTACTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC TCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03195.hp1 HG02630.hp1 HG03195.hp1	a0025 a0088 a0025 a0088	a0025c0112 a0088c0118 a0025c0112 a0088c0118	a0025c0112t0001 a0088c0118t0001 a0025c0112t0001 a0088c0118t0001	a0025c0112t0001g0171 a0088c0118t0001g0172 a0025c0112t0001g0171 a0088c0118t0001g0172	2	149	0.0134	684	c.292 others(699): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC CCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGT ACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCAC CTGTACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCC CCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(677): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTAT CTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	684	c.-26 others(695): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACA TCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATC TATCTGTCTATCTATAGATAGATACATCTATATGTCTATCTATAGATAGA TACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(677): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	684	c.-26 others(695): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACA TCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATC TATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATAGATAGA TACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(677): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0014 a0001c0005t0001g0014	1	182	0.0055	684	c.-26 others(695): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACA TCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATC TATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATAGATAGA TACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(677): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATCGATAGACATAT AGATGTATCTATCTATCGATAGACATATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG00280.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	183	0.0109	684	c.-26 others(695): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTGTCTATCGATAGATACA TCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATC TATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTA TCTGTCTATCGATAGATACATCTATATGTCTATCGATAGATAGATACATC TATATGTCTATCGATAGATAGATACATCTATATGTCTATCTATAGATAGA TACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PLEC_chr8_143910153_143944597	143928664	C C	CAGCGGGT others(677): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTA GACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTA TCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTG CAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAG TAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCC TATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTT TGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGG AGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGC CCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGG TTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGA GGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGTGGCG GCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0004 a0004	a0004c0201 a0004c0201	a0004c0201t0003 a0004c0201t0003	a0004c0201t0003g0227 a0004c0201t0003g0227	1	212	0.0047	684	c.326 others(701): Show c.3260+438_3260+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCACCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTG TGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCAC AGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCG CTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCC TGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGC ACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACC CGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTT CCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCA GCACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCA CCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143944597	143928664	C C	CAGCGGGT others(677): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTA GACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTA TCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTG CAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAG TAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCC TATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTT TGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGG AGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGC CCTATCACTGTGCTGGTTCTGTGAGGAGTAGATAGCGGGTGGACCTGTGG TTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGA GGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCG GCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02818.hp1 HG02965.hp1 others(1): Show HG02258.hp2 HG02818.hp1 HG02965.hp1 HG03139.hp1	a0004 a0057 a0070 a0004 a0057 a0070	a0004c0042 a0057c0202 a0070c0203 a0004c0042 a0057c0202 a0070c0203	a0004c0042t0003 a0057c0202t0003 a0070c0203t0003 a0004c0042t0003 a0057c0202t0003 a0070c0203t0003	a0004c0042t0003g0036 a0057c0202t0003g0228 a0070c0203t0003g0229 a0004c0042t0003g0036 a0057c0202t0003g0228 a0070c0203t0003g0229	4	215	0.0186	684	c.326 others(701): Show c.3260+438_3260+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTATCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTG TGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCAC AGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCG CTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCC TGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGC ACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACC CGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTT CCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCA GCACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCA CCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143944597	143928664	C C	CAGCGGGT others(677): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTA GACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTA TCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTG CAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAG TAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCC TATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTT TGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGG AGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGC CCTATCACTGTGCTGGTTCTGTGAGGAGTAGATAGCGGGTGGACCTGTGG TTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGA GGAGTAGATAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCG GCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0067 a0067	a0067c0102 a0067c0102	a0067c0102t0003 a0067c0102t0003	a0067c0102t0003g0137 a0067c0102t0003g0137	1	212	0.0047	684	c.326 others(701): Show c.3260+438_3260+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTAT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTATCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTG TGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCAC AGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCG CTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCC TGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGC ACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACC CGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTT CCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCA GCACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCA CCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143944597	143928664	C C	CAGCGGGT others(677): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTA GACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTA TCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTG CAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAG TAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCC TATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTT TGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGG AGTAGATAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGC CCTATCACTGTGCTGGTTCTGTGAGGAGTAGATAGCGGGTGGACCTGTGG TTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGA GGAGTAGATAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCG GCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0045 a0045	a0045c0104 a0045c0104	a0045c0104t0003 a0045c0104t0003	a0045c0104t0003g0261 a0045c0104t0003g0261	1	212	0.0047	684	c.326 others(701): Show c.3260+438_3260+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTAT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTATCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT ATCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTG TGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCAC AGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCG CTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCC TGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGC ACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACC CGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTT CCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCA GCACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCA CCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928664	C C	CAGCGGGT others(677): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTA GACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTA TCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTG CAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAG TAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCC TATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTT TGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGG AGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGC CCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGG TTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGA GGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGTGGCG GCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0004 a0004	a0004c0175 a0004c0175	a0004c0175t0003 a0004c0175t0003	a0004c0175t0003g0287 a0004c0175t0003g0287	1	167	0.0060	684	c.321 others(701): Show c.3218+438_3218+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCACCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTG TGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCAC AGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCG CTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCC TGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGC ACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACC CGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTT CCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCA GCACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCA CCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928664	C C	CAGCGGGT others(677): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTA GACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTA TCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTG CAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAG TAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCC TATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTT TGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGG AGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGC CCTATCACTGTGCTGGTTCTGTGAGGAGTAGATAGCGGGTGGACCTGTGG TTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGA GGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCG GCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02818.hp1 HG02965.hp1 HG02258.hp2 HG02818.hp1 HG02965.hp1	a0004 a0054 a0066 a0004 a0054 a0066	a0004c0178 a0054c0176 a0066c0177 a0004c0178 a0054c0176 a0066c0177	a0004c0178t0003 a0054c0176t0003 a0066c0177t0003 a0004c0178t0003 a0054c0176t0003 a0066c0177t0003	a0004c0178t0003g0138 a0054c0176t0003g0139 a0066c0177t0003g0140 a0004c0178t0003g0138 a0054c0176t0003g0139 a0066c0177t0003g0140	3	169	0.0178	684	c.321 others(701): Show c.3218+438_3218+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTATCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTG TGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCAC AGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCG CTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCC TGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGC ACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACC CGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTT CCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCA GCACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCA CCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928664	C C	CAGCGGGT others(677): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTA GACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTA TCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTG CAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAG TAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCC TATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTT TGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGG AGTAGATAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGC CCTATCACTGTGCTGGTTCTGTGAGGAGTAGATAGCGGGTGGACCTGTGG TTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGA GGAGTAGATAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCG GCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0043 a0043	a0043c0091 a0043c0091	a0043c0091t0003 a0043c0091t0003	a0043c0091t0003g0006 a0043c0091t0003g0006	1	167	0.0060	684	c.321 others(701): Show c.3218+438_3218+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTAT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTATCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT ATCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTG TGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCAC AGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCG CTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCC TGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGC ACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACC CGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTT CCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCA GCACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCA CCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
POR_chr7_75910155_75991855	75952143	A A	ACCCCCCC others(677): Show ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCGGGGGCTGACC CCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCGGGGGCTGACCCCCCC ACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGAGCGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTCCC TCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02896.hp1 HG02647.hp2 HG02896.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0243 a0001c0007t0001g0245 a0001c0007t0001g0243 a0001c0007t0001g0245	2	264	0.0076	684	c.-13 others(701): Show c.-13-1825_-13-1824insTGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCGGGGGCTGACC CCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCGGGGGCTGACCCCCCC ACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGAGCGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTCCC TCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCT CCCGGA	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
RPH3AL_chr17_207389_357807	217421	C C	CCTTTCTT others(677): Show CCTTTCTTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCTCCAA GGCATTTCATTCCCATCTGGGGCAGTTATTACAGAGCCCTTCTTCTGCGC TAAAATTGGCCTCACTGGAATCAGGACCCCCAAGGCATTTCGTTCCCATC TGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTC GCTGAAATCAGGACCCCCAAGGCATTTCATTCCTGTTTGGGGCAGTTATT ACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACTGGAATCAGGACCCC CAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTTCTTCT TCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCCCCAAGGCATTTCAT TCCTGTTTGGGGCAGTTATTACAGAGCCCTTCTTCTGCGCTAAAATTGGC CTCACTGGAATCAGGACCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTT ATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGCTGAAATCA GGACCCCCAAGGCATTTCATTCTTGTTTGGGGCAGTTATTACAGAGCCCT TCTTCTGCGCTAAAATTGGCCTCACTGGAATCAGGACCCCCAAGGCATTT CGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	92	0.0109	684	c.728 others(701): Show c.728-1620_728-1619insAAAGGGCTCCATAATAACTGCCCCAGAT GGGAACGAAATGCCTTGGGGGTCCTGATTCCAGTGAGGCCAATTTTAGCG CAGAAGAAGGGCTCTGTAATAACTGCCCCAAACAAGAATGAAATGCCTTG GGGGTCCTGATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGCT CCATAATAACTGCCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATTC CAGTGAGGCCAATTTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCCA AACAGGAATGAAATGCCTTGGGGGTCCTGATTTCAGCGAGGCCAATTTTA GTGCAGAAGAAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAAA TGCCTTGGGGGTCCTGATTCCAGTGAGGCCAATTTTAGCGCAGAAGAAGG GCTCTGTAATAACTGCCCCAAACAGGAATGAAATGCCTTGGGGGTCCTGA TTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAAC TGCCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATTCCAGTGAGGCC AATTTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCCAGATGGGAATG AAATGCCTTGGAGGTCCTGATTTCAGCGAGGCCAATTTTAGTGCAGAAGA AGAAAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743875	C C	CCCTGGCT others(677): Show CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGG TTACGAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGTTACGAGCACTGTCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTAC TAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGTTACGAGCACTGT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0095 a0001c0010t0095	a0001c0010t0095g0053 a0001c0010t0095g0053	1	179	0.0056	684	c.655 others(703): Show c.655-10120_655-10119insAGCCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCC CTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCAC TGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACGAGCACTGTCCTGGTTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCT ACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar

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