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
NFATC1_chr18_79390930_79534323	79505662	T T	TGGAAGAG others(620): Show TGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCT TGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGG AGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTG GTGGATGAGACCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGTGTGGGA GGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTG CGTGGGAGGAGGTGGTGGACGAGACCCTTGGGTGATGGAAGAGGCAGGAG ACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAG GCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAG GGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGGACGAGACCCTT GGGTGATGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGA GGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGG TGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAG GAGGTGGTGGATGAGACCCTTGGGTGAG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18995.hp2 NA18983.hp1 NA18995.hp2	a0002 a0012 a0002 a0012	a0002c0002 a0012c0041 a0002c0002 a0012c0041	a0002c0002t0002 a0012c0041t0006 a0002c0002t0002 a0012c0041t0006	a0002c0002t0002g0073 a0012c0041t0006g0102 a0002c0002t0002g0073 a0012c0041t0006g0102	2	138	0.0145	627	c.278 others(648): Show c.2782+18803_2782+18804insCGTGGGAGGAGGTGGTGCTGGAGG CCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTG GATGAGACCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGTGTGGGAGGA GGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGT GGGAGGAGGTGGTGGACGAGACCCTTGGGTGATGGAAGAGGCAGGAGACT GCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCA GGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGA AGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGGACGAGACCCTTGGG TGATGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGC CCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGC TGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAG GTGGTGGATGAGACCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTG GGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTG CTG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(620): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAG TATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTA TGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATG TATACCGTATATATACACAGTATGTATACTGTGTATATATACACAGTATG TATACTGCATACAGTATGTATACTGTATACATACTGCATGCAGTATGTAT ACTGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCA GTATGTATACTGTATATATACACTATACAGTATGTATACTGTATATATAC ACTATACAGTATGTATACTGTATATATACACAATACAGTATGTATACTGT ATATATACACAATACAGTATGTATACTGTATATATACACAATACAGTATG TATACTGTATATATACACACAGTATGTATACTGTATATATACACACAGTA TGTATACTGTATATATACACACAGTATGTATACTGTATATATACACACAG TATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0155 a0001c0001t0007g0155	1	118	0.0085	627	c.-75 others(646): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTATAT ATACAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATA GTGTATATATACAGTATACATACTGTATAGTGTATATATACAGTATACAT ACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATACA GTATACATACTGCATGCAGTATGTATACAGTATACATACTGTATGCAGTA TACATACTGTGTATATATACACAGTATACATACTGTGTATATATACGGTA TACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATA CATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACA TACTGTGTATATATACGGTATACATACATACAGTATACATACATACAGTA TACATGCTGTATACAGTATACATGCTGTATACAGTATACATGCTGTATAC A	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NPRL3_chr16_80386_143673	81598	T T	TCTCCGGG others(620): Show TCTCCGGGAAGGCCTCGTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTC TTCCCACCACCCTACCTCCAGGAAGGCCTCCTGAATGCTCCCCACACTGA CCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCAGGAAGGCCT CCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCGGG AAGGCCTCGTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACC ACCCTATCTCCAGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCT TCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGAC CCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCGTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	320	0.0031	627	c.51 others(638): Show c.5106_*5107insGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGA GCATTCACGAGGCCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGC GCGGGGAGCATTCAGGAGGCCTTCCCGGAGATAGGGTGGTGGGAAGAAGG GGTCAGTGTGGGGAGCATTCAGGAGGCCTTCCTGGAGATAGGGTGGTGGG AAGAAGGGGTCAGTGTGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGG TGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCACGAGGCCTTCCCGGA GATAGGGTGGTGGGAAGAAGGGGTCAGTGTGGGGAGCATTCAGGAGGCCT TCCTGGAGATAGGGTGGTGGGAAGAAGGGGTCAGTGTGGGGAGCATTCAG GAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAG CATTCAGGAGGCCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGTG TGGGGAGCATTCAGGAGGCCTTCCTGGAGGTAGGGTGGTGGGAAGAAGGG GTCAGTGTGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGA AGAAGGGGTCAGCGCGGGGAGCATTCACGAGGCCTTCCCGGAG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3787		chr16	TogoVar
NPRL3_chr16_80386_143673	81826	T T	TCTCCGGG others(620): Show TCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTATCTCCGGGAAGGCCTCGTGAATGCTCCCCACGCTGGCCCCTTC TTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATACTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCC ACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAAT ACTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGGCCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGAC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCA CGCTGGCCCCTTCTTCCCACCACCCTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	295	0.0034	627	c.48 others(638): Show c.4878_*4879insGTAGGGTGGTGGGAAGAAGGGGCCAGCGTGGGGA GCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGC GCGGGGAGCATTCAGGAGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAAGG GGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGG AAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGG TGGTGGGAAGAAGGGGCCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGA GGTAGGGTGGTGGGAAGAAGGGGCCAGCGTGGGGAGCATTCAGGAGGCCT TCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGTATTCAG GAGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGTGTGGGGAG CATTCAGGAGGCCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGCG CGGGGAGTATTCAGGAGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGG GCCAGCGTGGGGAGCATTCACGAGGCCTTCCCGGAGATAGGGTGGTGGGA AGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3559		chr16	TogoVar
NPRL3_chr16_80386_143673	82140	A A	ATGCTGGC others(620): Show ATGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCT CCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGAC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCA TGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATG CTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTC CTGAATGCTCCCCGCGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGA AGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0048 a0008c0012t0001g0048	1	206	0.0049	627	c.45 others(638): Show c.4564_*4565insCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGG GTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGG AGGTAGGGTGGTGGGAAGAAGGGGCCAGCGCGGGGAGCATTCAGGAGGCC TTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCGTGGGGAGCATTCA GGAGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCATGGGGA GCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGC GCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGG GGTCAGCGCGGGGAGCATTCAGGAGGGCTTCCCGGAGGTAGGGTGGTGGG AAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGG TGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGA GGTAGGGTGGTGGGAAGAAGGGGTCAGCGCCGGGAGCATTCAGGAGGGCT TCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAG GAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCA	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3245		chr16	TogoVar
NPRL3_chr16_80386_143673	82179	C C	CCCTCCTG others(620): Show CCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTC CGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACTACC CTACCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCC CACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCC TTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGC TGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTC CCCGCGCTGACCCCTTCTTCCCACTACCCTACCTCCGGGAAGCCCTCCTG AATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGG CCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCC GGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCC TACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCC ACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCT TCTTCCCACCACCCTACCTCCGGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	128	0.0078	627	c.45 others(638): Show c.4525_*4526insCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGT CAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAG AAGGGGTCAGCGCGGGGAGCATTCAGGAGGGCTTCCTGGAGGTAGGGTGG TGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGT AGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCC CGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAG GGCTTCCCGGAGGTAGGGTAGTGGGAAGAAGGGGTCAGCGCGGGGAGCAT TCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCGTGG GGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTC AGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGA AGGGGTCAGCGCGGGGAGCATTCAGGAGGGCTTCCCGGAGGTAGGGTAGT GGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTA GGGTGGTGGGAAGAAGGGGCCAGCGTGGGGAGCATTCAGGAGG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3206		chr16	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(620): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG TCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGT CCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCC CCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01256.hp1 HG01258.hp1 others(9): Show HG00140.hp1 HG01256.hp1 HG01258.hp1 HG02135.hp1 HG02615.hp2 HG04199.hp1 NA18747.hp1 NA18948.hp1 NA19068.hp1 NA19085.hp1 NA19088.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0016 a0001c0001t0001g0048 a0001c0001t0001g0049 others(9): Show a0001c0001t0001g0016 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0149 a0001c0001t0002g0088 a0001c0001t0003g0068 a0001c0001t0003g0070	12	70	0.1714	627	c.155 others(646): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC C	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(620): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGT CCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTC CGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCC CCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	59	0.0169	627	c.155 others(646): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC C	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
PDXK_chr21_43714129_43767299	43741442	G G	GGGGGGCT others(620): Show GGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCG CGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGG GGCTGGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCG CGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCCGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTGG CGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTCGCCGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTG GCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGG GCGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCG GGGGGCTCGCGGGGGGGCTCGCGGGGGCCTCGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTCGCGGGGGCCTCGC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0311 a0001c0001t0006g0311	1	214	0.0047	627	c.143 others(642): Show c.143-220_143-219insCTCGCAGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGG GGGGCTGGCGGGGGGGCTGGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGC TGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGCTGGCGGGGGGGC TCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGC GGGGGGCTCGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGCTGGCGGGGGG CTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGC GGGGGGCTCGCGGGGCGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGG GCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTC GCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGCCTCGCGGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGCCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(620): Show GTCTCTCCCCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCCCCTCTCT CCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTCT CTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCCC TCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCCC CTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTC CCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCT TCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTCT CTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTCTCTTC CCCTCCCTCCCTCTCTCCTCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTC CCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCCTCC CTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCT TCTCTCTCCCCTCCCTCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03834.hp2 HG03139.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0158 a0001c0001t0007g0054 a0001c0001t0001g0158 a0001c0001t0007g0054	2	63	0.0317	627	c.439 others(646): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCTCCCTCTCTC CCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCC TCTCTCCCCCCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCC CTCTCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTC CCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTC CCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCC CTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTT TCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTT CCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCT TTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCTCCTCCCTCTGTCC CGTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCT CTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCCTCTC T	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3351532	C C	CCTCCTCT others(620): Show CCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTC CCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCC TCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTCCCCTCCCTCTT TCCCCCCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCTCCCCTCCCTCT CTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCC TTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTC TCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCC CCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCTTCCTCTTTCTCTCCCT CTCTCTTCCCCTCCCTCCCTCTCTCCTCCTCCCTCTGTCCCGTCCCTCTC TCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCC TCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTC CCCCTCCTTCTCTCTCCCCTCCCTCTCT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0009 a0003c0005t0009	a0003c0005t0009g0010 a0003c0005t0009g0010	1	148	0.0068	627	c.439 others(646): Show c.439-33619_439-33618insTCCTCTCTCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCAC CTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCC CTCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCC TCCCTCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTC CTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCC TCTCTCCCCCTTTCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTC TCTCTCCCCCTTCCTCTCTCCCCCTCCCTCTCTGTCCCCCTCCCTCTCTC ATCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCTC CTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCT CCCCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTC CCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCT C	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124246	G G	GGTAGTTA others(620): Show GGTAGTTAGGATCACGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCA TGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGG GTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTAGGATCACG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTT AGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATC ATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAG GGTCATGGTGGTAGTTAGGGTCATGGCT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	143	0.0070	627	c.335 others(646): Show c.335-11014_335-11013insAGTTAGGATCACGGCTGTAGTTAGGG TCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGAT AGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTAGGGTC ATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAG TTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTG GTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGG GTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGT TAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTG T	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CCCTCCCT others(620): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTC TCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCT CCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCT CTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACC TTCCCTGTCTCCACCTCCCCTCTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	73	0.0137	627	c.23 others(638): Show c.2397_*2398insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCC TCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(620): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCA CCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGC CCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CCGATCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCC AGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGG CGGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	68	0.0147	627	c.139 others(646): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCCACCTCCC TCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCCGACC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATC CCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGG GGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGG GGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG G	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(620): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGGCTGACCCCCCCCCC ACCTCCCTCCCGGAGGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGGCCGGGCAGGG GGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGATCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTC CCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGG GCGGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	68	0.0147	627	c.139 others(646): Show c.139-18614_139-18613insGGGGGGCTGACCCCCCCCCCACCTCC CTCCCGGAGGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGGCCGGGCAGGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGG GGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG G	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(620): Show GTGATGATGGTGATGGTGATGATGATGGTGGTGGTGGTGATGTGATAATG GTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGT GATGATGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGG TGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGAT GATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGG TGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGA TGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGGTGGTGGTG ATGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGATGGTGAT GGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGA TGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGATG GTGGTGGTAATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTG ATGGTAGTGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0054 a0003c0005t0001g0054	1	199	0.0050	627	c.-46 others(638): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGATGGTGGTGGT GGTGATGTGATAATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGT GATGATGGTGATGGTGATGATGATGGTGATGGTGGTGGTGGTGATAATGG TGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTG ATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGAT GATGGTGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGA TGGTGGTGGTAATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGG TGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATG ATGGTGGTGGTGGTGATGATGGTGATGGTGGTGGTGGTGATAATGGTGAT GGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGG GGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATA ATGGTGATGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGTG ATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
SHANK1_chr19_50654255_50724802	50678957	G G	GTGGGGAG others(620): Show GTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC AGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAG GGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTG GGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGT AAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTG TGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGG GTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATG GGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG GGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG GGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGAT GGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG GGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG GGTCAGGGTGATGGGGAGGGGTCAGGGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02486.hp2 others(1): Show HG01891.hp1 HG02451.hp2 HG02486.hp2 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0014 a0001c0004 a0001c0014	a0001c0004t0008 a0001c0004t0010 a0001c0004t0011 others(1): Show a0001c0004t0008 a0001c0004t0010 a0001c0004t0011 a0001c0014t0008	a0001c0004t0008g0064 a0001c0004t0010g0060 a0001c0004t0011g0050 others(1): Show a0001c0004t0008g0064 a0001c0004t0010g0060 a0001c0004t0011g0050 a0001c0014t0008g0232	4	312	0.0128	627	c.257 others(646): Show c.2578-6844_2578-6843insACCCTGACCCCTCCCCATCACCCTGA CCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACA CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCC CCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGAC CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTC CCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCAT CACACTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCC TTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTC CCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGAC CCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACC CTGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCC A	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SLC24A3_chr20_19207642_19727926	19663413	C C	CTCCTCCT others(620): Show CTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCTACCTCCT GCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTC CACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCTACCTCCTGCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCT CCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCAC CTCCACCTCCACCTCCACCTCCACCTCCACCTCCTCCTCCACCTCCTCCT CCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC TCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCTCCTC CACCTCCACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0153 a0004c0010t0002g0153	1	89	0.0112	627	c.688 others(644): Show c.688-2442_688-2441insACCTCCTCCTCCTCCTCCTCCACCTCCT CCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCT CTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCACCTCCACCTCCACCTCCACCTCCACCTCCACCTCCTCCT CCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCACCTC CACCTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCACTTCCTCCTCC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC45A1_chr1_8313114_8349165	8322292	A A	ATGGGCGG others(620): Show ATGGGCGGGTGGGTGGATGGATGAGTGGGTGAGTGGATGGATGCATGGAT GGATGGGTGGGTGGGTGGATGGATGAGTGGGTGGATGGATGGGTGGATGG ATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGCGTGGGTGGGTGGAT GGATGGATGGATGAGTGGGTGAGTGGATGGATGCATGGATGGATGGGTGG GTGGGTGAATGGATGGATGAGTGGGTGGATGGATGGGTGGATGAATGGGT GGGTGGGTGCGTGGGTGGGTGGATGGATGGATGGGTGGATGGATGCATGG GTGGGTGGATGTATGGGTGGATGGATGCGTGGGTGGGTGGATGGATGGGT GGATGGGTGGATGGATGGATGGATAGATGGGTGTGTGGATGGATGGATGA GTGGGTGGATGGATGGGTGGATGGATGGGTAGGTGGGTGGATGGATGGGT GGATGAGTGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGAGTGG GTGGAGGGATGGGTGGATGATGGATGGGTGGGTGGATGGATGGGTGGGTG GGTGGATGGGTGGGTGGATGGATGGGTGGGTGGGTGGATGGGTGGGTGGG TGGATGGGTGGATGGATGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0291 a0002c0004t0001g0291	1	327	0.0031	627	c.-24 others(644): Show c.-24-2011_-24-2010insGCGGGTGGGTGGATGGATGAGTGGGTGA GTGGATGGATGCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGT GGATGGATGGGTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGG GTGCGTGGGTGGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGAT GCATGGATGGATGGGTGGGTGGGTGAATGGATGGATGAGTGGGTGGATGG ATGGGTGGATGAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGAT GGGTGGATGGATGCATGGGTGGGTGGATGTATGGGTGGATGGATGCGTGG GTGGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGT GTGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGGATGGGTAG GTGGGTGGATGGATGGGTGGATGAGTGGATGGATGGATAGATGGGTGGGT GGATGGATGGATGAGTGGGTGGAGGGATGGGTGGATGATGGATGGGTGGG TGGATGGATGGGTGGGTGGGTGGATGGGTGGGTGGATGGATGGGTGGGTG GGTGGATGGGTGGGTGGGTGGATGGGTGGATGGATGGGTGGGTGGGTGG	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(620): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAG GGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGG AGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGA GGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGGGGGAGGGG GAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAG GGGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAA GGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGA GGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAA GGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGGAGAGGGGAGAGG AGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	3	0.3333	627	c.12 others(638): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCC CTTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCC CTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCC TTCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTC CCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTC CCCCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCC CCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTT CCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCC TCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGC CCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCT CCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCC CTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SNTG2_chr2_945849_1372613	1168166	T T	TGGCAGAA others(620): Show TGGCAGAACTGAAGCCTAGAAGCTGCCCACAGACGGCAGAACTGAAGCCT ACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGAC GGCAGAACTGAAGCCTACAAGCCGCCCACAGACGGCAGAACTGAAACCTA CAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACG GCAGAACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAC AAGCCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGG CAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAACCTACA GGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACGGC AGAACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTACAA GCCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCA GAACTGAAGCCTACAGGCCGCCCACAGATGGCAGAACTGAAACCTACAGG CCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAG AACTGAAGCCTACAGGCCGCCCACAGAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0020 a0005c0006t0001g0020	1	165	0.0061	627	c.499 others(644): Show c.499+2614_499+2615insGAAGCCGCCCACAGACGGCAGAACTGAA GCCTACAAGCCGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCAC AGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACGGCAGAACTGAAA CCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTACAAGCCGCCCACA GACGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAGC CTACAGGCCGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAG ACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACGGCAGAACTGAAACC TACAGGCCGCCCACAGACGGCAGAACTGAAGCCTACAAGCCGCCCACAGA CGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCT ACAGGCCGCCCACAGATGGCAGAACTGAAACCTACAGGCCGCCCACAGAC GGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTA CAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCTGCCCACAGACG GCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1168166	T T	TGGCAGAA others(620): Show TGGCAGAACTGAAGCCTAGAAGCTGCCCACAGACGGCAGAACTGAAGCCT ACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGAC GGCAGAACTGAAGCCTACAAGCCGCCCACAGACGGCAGAACTGAAACCTA CAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACG GCAGAACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAC AAGCCGCCCACAGATGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGG CAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAACCTACA GGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACGGC AGAACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTACAA GCCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCA GAACTGAAGCCTACAGGCCGCCCACAGATGGCAGAACTGAAACCTACAGG CCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAG AACTGAAACCTACAGGCCGCCCACAGAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0184 a0003c0007t0001g0184	1	165	0.0061	627	c.499 others(644): Show c.499+2614_499+2615insGAAGCCGCCCACAGACGGCAGAACTGAA GCCTACAAGCCGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCAC AGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACGGCAGAACTGAAA CCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTACAAGCCGCCCACA GATGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAGC CTACAGGCCGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAG ACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACGGCAGAACTGAAACC TACAGGCCGCCCACAGACGGCAGAACTGAAGCCTACAAGCCGCCCACAGA CGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCT ACAGGCCGCCCACAGATGGCAGAACTGAAACCTACAGGCCGCCCACAGAC GGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAACCTA CAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCTGCCCACAGACG GCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(620): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGGAAAG GAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGG AAAGGAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAGGA GGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0297 a0001c0001t0005g0297	1	3	0.3333	627	c.597 others(644): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCCCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTC CCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(620): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGGTGGGAGCGGGGTGGGGGAAC GGGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGG GGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGGTGGGGGAACGGG GTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGT GGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGG GAGCGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	4	0.2500	627	c.157 others(646): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTCT CCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTCTCC CCGTTCCCCCACCCCGCTCCCACCCCCGTTCCCCCACCCCGCTCCCTCCC CGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCACCCCG TTCTCCCACCCCGCTCTCACCCCCACCCCGCTCTCCCACCCCGCTCTCAC CCCGTTCTCCCACCTCGCTCCCACCCCGTTCTCCCACCCCCTCCCACCCC CACCCCGTTCTCCCACCCCTCCCACCCTGCTCTCCCACCCCGCTCTCCCA CCCCGTTCTCCCACCCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCCCA CCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCT CCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCC C	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TGM2_chr20_38122385_38170270	38124011	T T	TATAATAT others(620): Show TATAATATACCTATTATATGCATTATATATAATATACCTATTATATGCAT TATATATAATATACCTATTATATGCATTATATATAATATACCTATTATAT GCATTATATATAATATACCTATTATATGCATTATATAATATATTATATAT AATATGCATATTATATGTATTATATATTATATATTATATATATAATATAC ATATTATATGTATTATATATTATATATAATATACATATTATATATTATAT ATTATATACATATTATATATTATATATTATATACATATTATATATTATAT ACATATTATATATTATATATTATATACATATTATACATTATATATATCTA AAATATATAATACACATTATATATTATATAATACACATTATATATTATAT ATAATACACATTATATATTATATATAATACACATTATATATTATATATAA TACACATTATATATTATATATAATACACATTATATATTATATAATACACA TTATATATTATATATAATACACATTATATATTATATATAATACACATTAT ATATTATATAATGCACATTATATATTATATATAATACACATTATATATAT AATACACATTATATATTATATATAATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0008	a0001c0008t0008g0123 a0001c0008t0008g0123	1	317	0.0032	627	c.62 others(638): Show c.6207_*6208insGTATTATATATAATATATAATGTGTATTATATAT ATAATGTGTATTATATATAATATATAATGTGCATTATATAATATATAATG TGTATTATATATAATATATAATGTGTATTATATATAATATATAATGTGTA TTATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATAT ATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATATAA TATATAATGTGTATTATATAATATATAATGTGTATTATATATTTTAGATA TATATAATGTATAATATGTATATAATATATAATATATAATATGTATATAA TATATAATATGTATATAATATATAATATATAATATGTATATAATATATAA TATATAATATGTATATTATATATAATATATAATACATATAATATGTATAT TATATATATAATATATAATATATAATACATATAATATGCATATTATATAT AATATATTATATAATGCATATAATAGGTATATTATATATAATGCATATAA TAGGTATATTATATATAATGCATATAATAGGTATATTATATATAATGCAT ATAATAGGTATATTATATATAATGCATATAATAGGTATATTAT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3373		chr20	TogoVar
THEG_chr19_356747_381026	377283	C C	CCCCTCTG others(620): Show CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCC AGCCTCTCCCCCTGTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTGTGTGCCC CCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGC CCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTG CCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCT GTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0219 a0001c0001t0041g0219	1	349	0.0029	627	c.-13 others(638): Show c.-1314_-1313insAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGC TGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGA GGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACACAGGGGG AGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAG GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCAC ACAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTGGGTGG GGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1258		chr19	TogoVar
THEG_chr19_356747_381026	377528	G G	GCCCCACC others(620): Show GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCTGTGTGCCCCCACCCAGCCTCTCCCCCCTGTGCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGC CCCCACCCAGCCTCTCCCCCCGTGTGCCCCACCCAGCCTCTCCCCCCTGT GCCCCACCCAGCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	177	0.0056	627	c.-15 others(638): Show c.-1559_-1558insGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGG GGGAGAGGCTGGGTGGGGCACACGGGGGGAGAGGCTGGGTGGGGGCACAG AGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGC TGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGA GGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1503		chr19	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(620): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTCGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGG GAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCC CCCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCC CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	178	0.0056	627	c.-27 others(638): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCGACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGG GCTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(620): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCAG GAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCC CCCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCC CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	178	0.0056	627	c.-27 others(638): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCTGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGG GCTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(620): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGG GAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCC CCCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCC CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGACC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	178	0.0056	627	c.-27 others(638): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGTCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGG GCTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(620): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGG GAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCC CCCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCC CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(68): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01993.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG03098.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03710.hp1 HG06807.hp1 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18957.hp2 NA18970.hp2 NA18985.hp1 NA19030.hp2 NA19057.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19088.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0051 a0001c0001t0003g0058 a0001c0001t0005g0023 a0001c0002t0002g0004 a0001c0002t0002g0055	71	248	0.2863	627	c.-27 others(638): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGG GCTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(620): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTTGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGG GAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCC CCCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCC CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	178	0.0056	627	c.-27 others(638): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCAACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGG GCTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(620): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCTGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGG GAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCC CCCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCC CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	178	0.0056	627	c.-27 others(638): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCAGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGG GCTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(620): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCTGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGG GAGGTGAGGGGCGCCTCTGCCCAGCCACCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCC CCCACCCGGCCAGCCGCCCCATCTGGGAGGGAGGTTTGGGGGTCAGCCCC CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	178	0.0056	627	c.-27 others(638): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGATGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGTGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCAGGCGGGGG GCTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TMEM178B_chr7_141069064_141485380	141337158	T T	TCACCACC others(620): Show TCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAGCA TCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCAGC ATCACCACCACCACCACCACCACCACCACCACCACCATCACCACCAGCAT CACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCACCA CCACCACCACCAGCATCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCACCATCACCACCAGCATCACCACCATCACCACCACCATCAC CACCACCACCACCACCACCACCACCACCACCACCACCAGCATCACCACCA TCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCAGC ATCACCACCATCACCACCACCATCACCACCACCACCACCACCACCATCAC CACCACCACCATCACCACCACGACCACCACCAGCACCACCACCATCACCA CCATCACCACCACCACCACCATCACTAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0049 a0001c0002t0006g0049	1	5	0.2000	627	c.497 others(648): Show c.497-100436_497-100435insTCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCACCAGCATCACCACCATCACCACCACCACCACCACCACCACCACCA CCACCACCAGCATCACCACCACCACCACCACCACCACCACCACCACCATC ACCACCAGCATCACCACCATCACCACCACCATCACCACCACCACCACCAC CACCACCACCACCACCACCACCAGCATCACCACCATCACCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCAGCATCACCACCATCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCAG CATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCA TCACCACCAGCATCACCACCATCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCACCACCATCACCACCACGACCACCACCAGCACCAC CACCATCACCACCATCACCACCACCACCACCATCACTACCACCACCACCA CCA	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
TP53AIP1_chr11_128930370_128947871	128930756	C C	CAGGGTAG others(620): Show CAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGA GGCCGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGG GGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGTAG GGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCCGGGG TTAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCC GGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGG TTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGG GAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCTGGGGTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	323	0.0031	627	c.48 others(638): Show c.4834_*4835insTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAAC CCCAGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCCCTG GCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTC CCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTAACCCCGG CCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCGGCCTCCC TAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCC TGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCC TCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCGGCCTCCCTA ACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCG GCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4613		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(620): Show TTATATATATTATATATATAAAAATTATATATATATTATATATATAAAAA TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATAAAAATTATATATATTATATATATAAAAATTATATATATATTATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATAATATATATATAAAAATTATATATATAATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	144	0.0069	627	c.28 others(638): Show c.2888_*2889insTATATATATTATATATATAAAAATTATATATATA TTATATATATAAAAATATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATAAAAATTATATATATTATATATATAAAAATTAT ATATATATTATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATAATATATATATAAAAATTATATATATAATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273358	T T	TTATATAT others(620): Show TTATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATAAAAATTATATATATTATATATATAAAAATTA TATATATATTATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATAATATATATATA AAAATTATATATATAATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTG TATATATATAAAAATTATATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03516.hp1 NA19030.hp1 HG03225.hp1 HG03516.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	3	74	0.0405	627	c.29 others(638): Show c.2923_*2924insTATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATAAAAATTATATATATTA TATATATAAAAATTATATATATATTATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATAATATATATATAAAAATTATATATATAATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTGTATATATATAAAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2245		chr11	TogoVar
TUBB2B_chr6_3219277_3232653	3222105	C C	CACTACCA others(620): Show CACTACCACTACCACCAACACAATCACCACCACGATCACCATCATCACCA CCACCACCACTACCACTACCACCATCATAATTACCACCACCATCACCACC ACCACCACCACTATCACCATCATCACCACCACCACCACCACCACTAGCAC AACCACAACACTACCACATCACCACCACCACTACCACTACTACCATCACC ATCACCACCACCATCACCACCACCACCACAATACTACCACATCACCACCA CCACCATCATCATCACCACCACTACCACCACCACTACCACCACCACCACC ATCACTACTACCATCACCACCACCACCACCATCACCACCACCACGACCAC CACAACACTACCACATCACCACCACCACCATCATCATCACCACCACTACC ACCACCACTACCACCACCACCACCATCACTACTACCATCACCACCACCAC CACCATCACCACCACCACGACCACCACAACACTACCACATCACCACCACC ACCATCACCACTGCCACCACCACTACCACCACCACCACTACCACCATCGC CACCATCACCACCACATCACCACCACCACCACCACTACTACCACCACCAC CACCATCACCACTACTACCATCACCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	347	0.0029	627	c.26 others(638): Show c.2645_*2646insAGTGGTGATGGTAGTAGTGGTGATGGTGGTGGTG GTGGTAGTAGTGGTGGTGGTGGTGGTGATGTGGTGGTGATGGTGGCGATG GTGGTAGTGGTGGTGGTGGTAGTGGTGGTGGCAGTGGTGATGGTGGTGGT GGTGATGTGGTAGTGTTGTGGTGGTCGTGGTGGTGGTGATGGTGGTGGTG GTGGTGATGGTAGTAGTGATGGTGGTGGTGGTGGTAGTGGTGGTGGTAGT GGTGGTGATGATGATGGTGGTGGTGGTGATGTGGTAGTGTTGTGGTGGTC GTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTAGTAGTGATGGTGGT GGTGGTGGTAGTGGTGGTGGTAGTGGTGGTGATGATGATGGTGGTGGTGG TGATGTGGTAGTATTGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGAT GGTAGTAGTGGTAGTGGTGGTGGTGATGTGGTAGTGTTGTGGTTGTGCTA GTGGTGGTGGTGGTGGTGGTGATGATGGTGATAGTGGTGGTGGTGGTGGT GATGGTGGTGGTAATTATGATGGTGGTAGTGGTAGTGGTGGTGGTGGTGA TGATGGTGATCGTGGTGGTGATTGTGTTGGTGGTAGTGGTAGT	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		2171		chr6	TogoVar
UCN3_chr10_5359966_5379692	5370247	A A	ATGTGTGT others(620): Show ATGTGTGTGTGTATATGCGTGTGTATATGTGTGTATATGTGTGTGTATGT GTGCGTGTATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTGT GTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTGTGTATATGTGT GTGTATGTGTGTGTGTATGTGTGTGTGTATATGTGTGTGTGTATATGCGT GTGTATATGCGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTAT GTGTGTGTATATGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGT ATGTGTGTGTATATGTGTGTTCATGTGTATGTGTGTAAGGTGTGTATGTG TGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTA TGCGTGTGTATATGTGTGTGTATGTGTGTGTATATGTGTGTGTATATGTG CGTGTATATGTGTGTGTGTATGTGTGTATGTGTGTGTATACGTGTGTATA TGTGTGTGTGTATATGTGCGTGTATATGTGTGTGTGTATGTGTGTGTATA TGTGTGTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTG TATGTCTGTGTATATGTGTGTGTATATG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0356 a0002c0002t0005g0356	1	419	0.0024	627	c.-6- others(642): Show c.-6-3466_-6-3465insTGTGTGTGTATATGCGTGTGTATATGTGTG TATATGTGTGTGTATGTGTGCGTGTATGTGTGTATGTGTGTGTATATGTG TGTGTATGTGTGTGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATG TGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTGTGTGTATATG TGTGTGTGTATATGCGTGTGTATATGCGTGTGTATGTGTGTGTATGTGTG TGTATGTGTGTGTGTATGTGTGTGTATATGTGTGTATGTGTGTGTATGTG TGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTTCATGTGTATGTG TGTAAGGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGT GTGTATGTGTGTGTGTATGCGTGTGTATATGTGTGTGTATGTGTGTGTAT ATGTGTGTGTATATGTGCGTGTATATGTGTGTGTGTATGTGTGTATGTGT GTGTATACGTGTGTATATGTGTGTGTGTATATGTGCGTGTATATGTGTGT GTGTATGTGTGTGTATATGTGTGTGTGTATGTGTGTATGTGTGTGTATGT GTGTGTATATGTGTGTGTATGTCTGTGTATATGTGTGTGTATATGTG	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(620): Show AATATATATAATATATATAATATATATAATATAATATAATGCAATATATA ATAATTATATAATATAATATATAATATATAATATATATTATATATAATAT ATAATATATAATATATATTATATATAATAATATAATATATAATATACATT ATATAATAATATAATGTATATTATATAATAATAATGTAATATATAACATA TATTATATAATAATAATATAAGATATATTATATAATTAATATAATATATA ATATATATTATATAATAATAATATAAGATATATTATATAATTAATATAAT ATATAATATATATTATATAATTAATATAATATATAATATATATTATATAA TAATAATATAATATATATAATAATTATATAATATAGTATATAAATATATA TTATATAATAATAATATAATATATATAATTAATTATATAATATTAGAATA TATATTATACAATAATAATATAATATATATTATACAATAATAATATAATA TATATATAATTATATAATATAATATATATAATAATAATATAATATAATAT ATAATATATATTATATAGTAATAATATAATATAATATATAATATATATTA TATAATAATATAATATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0116 a0001c0001t0003g0116	1	12	0.0833	627	c.55+ others(642): Show c.55+2822_55+2823insATATTATATATTATATTATATTATTATATA ATATATATTATATATTATATTATATTATTACTATATAATATATATTATAT ATTATATTATATTATTATTATATATATTATATTATATAATTATATATATA TTATATTATTATTGTATAATATATATTATATTATTATTGTATAATATATA TTCTAATATTATATAATTAATTATATATATTATATTATTATTATATAATA TATATTTATATACTATATTATATAATTATTATATATATTATATTATTATT ATATAATATATATTATATATTATATTAATTATATAATATATATTATATAT TATATTAATTATATAATATATCTTATATTATTATTATATAATATATATTA TATATTATATTAATTATATAATATATCTTATATTATTATTATATAATATA TGTTATATATTACATTATTATTATATAATATACATTATATTATTATATAA TGTATATTATATATTATATTATTATATATAATATATATTATATATTATAT ATTATATATAATATATATTATATATTATATATTATATTATATAATTATTA TATATTGCATTATATTATATTATATATATTATATATATTATATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(620): Show AATATATATAATATATATAATATATATAATATAATATAATGCAATATATA ATAATTTATATAATATAATATATAATATATAATATATATTATATATAATA TATAATATATAATAAATATTATATATAATAATATAATATTATAATATACA TTATATAATAATATAATGTATATTATATAATAATAATGTAATATATAACA TATATTATATAATAATAATATAAGATATATTATATAATTAATATAATATA TAATATATATTATATAATAATAATATAAGATATATTATATAATTAATATA ATATATAATATATATTATATAATTAATATAATATATAATATATATTATAT AATAATAATATAATATATATAATAATTATATAATATAGTATATAATATAT ATTATATAATAATAATATAATATATATAATAATTATATAATATTAGAATA TATATTATACAATAATAATATAATATATATTATACAATAATAATATAATA TATATATAATTATATAATATAATATATATAATAATAATATAATATAATAT ATAATATATATTATATAGTAATAATATAATATAATATATAATATATATTA TATAATAATATAATATAATATATAATAT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	12	0.0833	627	c.55+ others(642): Show c.55+2822_55+2823insATATTATATATTATATTATATTATTATATA ATATATATTATATATTATATTATATTATTACTATATAATATATATTATAT ATTATATTATATTATTATTATATATATTATATTATATAATTATATATATA TTATATTATTATTGTATAATATATATTATATTATTATTGTATAATATATA TTCTAATATTATATAATTATTATATATATTATATTATTATTATATAATAT ATATTATATACTATATTATATAATTATTATATATATTATATTATTATTAT ATAATATATATTATATATTATATTAATTATATAATATATATTATATATTA TATTAATTATATAATATATCTTATATTATTATTATATAATATATATTATA TATTATATTAATTATATAATATATCTTATATTATTATTATATAATATATG TTATATATTACATTATTATTATATAATATACATTATATTATTATATAATG TATATTATAATATTATATTATTATATATAATATTTATTATATATTATATA TTATATATAATATATATTATATATTATATATTATATTATATAAATTATTA TATATTGCATTATATTATATTATATATATTATATATATTATATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(620): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAAATA TATATTATAACTATATTAAATATATAAATTATATAATATATATTATATAT TGTATATTATATAATTTATATAATATATTATATGTTATATAATATATATT ATATATTGTATATATTATATTATATATTATATATTTTATATATCATATAT AGTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATAT TTTTATATATTATATAGTATACTATATAATATATATTTTTATATATTATA TATAATATATATAATTATATATCATATATATTTATATAATATATGATATA TAATATATAATATATATTATGTATTATATAATTATATAAAATATATCATA TATTATATATTATAAATAATATATTATATATTATATTATATATTATAAAT AATATATTATATATTATATTATATATTATAAATAATATATTATATATTAT ATTATATATTATAAATAATATATTATATATTATATTATATATTATAAATA ATATATTATATATTATAAATAATATATTATATATAATATGTTATATATTA TAAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0257 a0001c0001t0030g0257	1	44	0.0227	627	c.-1- others(644): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAAATATATATTATAACTATATTAAATATATAAATTATAT AATATATATTATATATTGTATATTATATAATTTATATAATATATTATATG TTATATAATATATATTATATATTGTATATATTATATTATATATTATATAT TTTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTAT ATAGTATACTATATATTTTTATATATTATATAGTATACTATATAATATAT ATTTTTATATATTATATATAATATATATAATTATATATCATATATATTTA TATAATATATGATATATAATATATAATATATATTATGTATTATATAATTA TATAAAATATATCATATATTATATATTATAAATAATATATTATATATTAT ATTATATATTATAAATAATATATTATATATTATATTATATATTATAAATA ATATATTATATATTATATTATATATTATAAATAATATATTATATATTATA TTATATATTATAAATAATATATTATATATTATAAATAATATATTATATAT AATATGTTATATATTATAAATAATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF365_chr10_62369369_62407450	62370997	A A	ATATATAT others(620): Show ATATATATCATATATGTGATATATATCATATATATCAAATATATGATATA TATCATATATGTGATATATATCATATATATCAAATATATGATATATATCA TATATGTGATATATATCACATATGTGATATATATCATATCACATATCATA TGACATATCATATCACATATCACATATCACATATCACATATCACATATCA TATGATATATATCACATGTGATATATAGCATATGTGATATATATCATATA TATCACATGTGATATATAGCATATGTGATATATATCATATATATCACATA TGATATATAGCATATGTGATATATATCATATATATCACATATGCTATATA GCATATGTGATATATATCATATATATCACATATGCTATATAGCATACGTG ATATATATCATATATATCATATATGATGTATAGCATGATATATATGCTAT ATATCACATGTGATATATAGCATATATATCACATGTGATATATAGCATAT ATATCACATGTGATATATAGCATATGTGATATATATGATATATGTGATAT ATATCATATGTGATATATATGATATATATCACATATATATGATATATATC ACATATATATCATATATATCATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	243	0.0041	627	c.-34 others(638): Show c.-3475_-3474insTATATATCATATATGTGATATATATCATATATAT CAAATATATGATATATATCATATATGTGATATATATCATATATATCAAAT ATATGATATATATCATATATGTGATATATATCACATATGTGATATATATC ATATCACATATCATATGACATATCATATCACATATCACATATCACATATC ACATATCACATATCATATGATATATATCACATGTGATATATAGCATATGT GATATATATCATATATATCACATGTGATATATAGCATATGTGATATATAT CATATATATCACATATGATATATAGCATATGTGATATATATCATATATAT CACATATGCTATATAGCATATGTGATATATATCATATATATCACATATGC TATATAGCATACGTGATATATATCATATATATCATATATGATGTATAGCA TGATATATATGCTATATATCACATGTGATATATAGCATATATATCACATG TGATATATAGCATATATATCACATGTGATATATAGCATATGTGATATATA TGATATATGTGATATATATCATATGTGATATATATGATATATATCACATA TATATGATATATATCACATATATATCATATATATCATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3371		chr10	TogoVar
ACAP3_chr1_1287391_1312930	1288863	T T	TCCATTCC others(621): Show TCCATTCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCT GCTCCGTCCCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCC CCGTGTCTGCTCCGTCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0027 a0001c0005t0002g0027	1	245	0.0041	628	c.47 others(639): Show c.4700_*4701insGGCAGAGACACGGGACGGAGCAGACACGGGGGAC GGAGCAGAGACACGGGGAATGGAGCAGAGACACGGGGGACGGAGCAGGGA CACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGAC GGAGCAGGGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGA CACGGGGAATGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAG CAGACACGGGGGACGGAGCAGAGACACGGGGAATGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGGGCAGAGA CACGGGACGGAGCAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAG CAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGG ACGGAGCAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGA CACGGGACGGAGCAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAG CAGAGACACGGGGAATGGAGCAGAGACACGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGAATGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3527		chr1	TogoVar
ATG7_chr3_11267397_11562665	11487606	C C	CCCTCCCG others(621): Show CCCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTC CCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCAGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTC ACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCT CCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCGCTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03710.hp1 HG03491.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0235 a0001c0002t0002g0236 a0001c0001t0002g0235 a0001c0002t0002g0236	2	204	0.0098	628	c.207 others(649): Show c.2079+60692_2079+60693insGGCGGATGGCTGGGCGGGGGGCTG ACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCAGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCAGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGG GGCGGCTGTCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCT CCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGG	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487606	C C	CCCTCCCG others(621): Show CCCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTC CCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTC ACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCT CCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCA	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19030.hp2 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0149 a0001c0001t0005g0263 a0001c0001t0005g0149 a0001c0001t0005g0263	2	204	0.0098	628	c.207 others(649): Show c.2079+60692_2079+60693insGGCGGATGGCTGGGCGGGGGGCTG ACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCAGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGG	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487606	C C	CCCTCCCG others(621): Show CCCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTC CCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTC ACCTCCCAGACGGGGCGGCTGGCCGGGTTGGGGGGCTGACCCCCCCATCT CCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0118 a0001c0001t0046g0118	1	203	0.0049	628	c.207 others(649): Show c.2079+60692_2079+60693insGGCGGATGGCTGGGCGGGGGGCTG ACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCAGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTTGGGGGGCT GACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGG	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487606	C C	CCCTCCCG others(621): Show CCCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTC CCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCAACCTCCCCCCCGGACGGGGCGGCTGGCCGGGC AGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTC ACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCT CCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCGCTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01168.hp2 HG01175.hp2 others(7): Show HG01071.hp1 HG01168.hp2 HG01175.hp2 HG01891.hp1 HG02109.hp2 HG02572.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0002g0150 a0001c0001t0002g0193 a0001c0001t0002g0197 others(7): Show a0001c0001t0002g0150 a0001c0001t0002g0193 a0001c0001t0002g0197 a0001c0001t0002g0260 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0004g0261 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0147	10	212	0.0472	628	c.207 others(649): Show c.2079+60692_2079+60693insGGCGGATGGCTGGGCGGGGGGCTG ACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCAGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGG GGCGGCTGTCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCCCCCGGACGGGG CGGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCT CCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGG	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487606	C C	CCCTCCCG others(621): Show CCCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTC CCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTC ACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCT CCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCGCTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0216 a0001c0001t0004g0216	1	203	0.0049	628	c.207 others(649): Show c.2079+60692_2079+60693insGGCGGATGGCTGGGCGGGGGGCTG ACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCAGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGG GGCGGCTGTCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCATCTCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCT CCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGG	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar

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