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
USP12_chr13_27061156_27176811	27063931	A A	AGGGAGGA others(841): Show AGGGAGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGA AGGAAGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAG TAAAGGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGG GAGGGGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGGG AGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAG GGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAA AGAGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGG GAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAG AGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAG GGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAA AGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAG GGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGG AGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAG GAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAGGA AGGAGGGAGGGGAGGGAAGGGAGGGAGGAAGGGAGGGAGAGGAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03486.hp2 HG02622.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0154 a0001c0001t0001g0032 a0001c0001t0001g0154	2	63	0.0317	848	c.53 others(859): Show c.5351_*5352insCCTTCCTCCTCTCCCTCCCTTCCTCCCTCCCTTC CCTCCCCTCCCTCCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCC TCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCT CCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTC TCCCTCCCTCTCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTC TCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCC CTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTT CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCCCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTC TCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCTCTCTTTCACCCTCCC TTCCTTTCTCCTTTACTCCCTTCCTCCATCCCCTCCCCTCCCCTCCCTTC CCTCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTCCCTTCTTTCCTCCCTC CCTCCTCTCCTCCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2224		chr13	TogoVar
VCX_chrX_7838171_7849143	7844325	T T	TGGTGTGT others(841): Show TGGTGTGTGGGGAGGGAGGGAGGGAGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGTGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGTGTGGGGAGGGAGG GAGGAAGAGGAGGTGTGTGGGGTGGGAGGGAGGGAGGAAGAGGAGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGTTGTGTGGGGAGGGAGGGAGGAAGA GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTG GGGAGGGAGGGAGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	291	0.0034	848	c.30 others(857): Show c.309_*310insGGTGTGTGGGGAGGGAGGGAGGGAGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTG TGGGGTGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGT GTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGTGGGAGGGAGGGAGG AAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGTTGTGTGGGGAG GGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGTGTGGGGAGGGAGGGAGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGG GAGGGAGGAAGA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		183		chrX	TogoVar
ACAP3_chr1_1287391_1312930	1289847	G G	GTCTCTGC others(842): Show GTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCATCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATCCC CCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCATCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCATGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	225	0.0044	849	c.37 others(860): Show c.3716_*3717insGCAGGGACACGGGACGGAGCAGAGACACGGGACG GAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGACACGGGG GACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAG ACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACATGGGACGGAGC AGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGG GACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGGGAC ACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAG AGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGA CGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACAC GGGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAC ACGGGGGATGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGC AGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACG GAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGGGACACGG GACGGAGCAGACACGGGGGATGGAGCAGAGACACGGGACGGAGCAGAGAC ACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGC AGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGACACGGGGGATG GAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACTCGG GGGACGGAGCAGAGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2543		chr1	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(842): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTAG TCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCCA GGAGGCTGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTG GTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTAAAAAAAA AAAAAAAAATACATATATATATATATATATATATTTAAAATTCCTTGTAA AAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAG GCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	27	0.0370	849	c.94+ others(864): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATGTATTTTTTTTTTTTTTTTTAATATATATTCTTTTTTTTTAA ACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCTTGGC TCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGAGGGA GAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATTTTTTTT TTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGC TGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTCCCAA AGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAATATATT TTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTTGGTTGA CTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTGTTTCCA CATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCTTTTTCT TTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCTCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTTAGTAGA GACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(842): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTAG TCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCCA GGAGGCTGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTG GTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTAAAAAAAA AAAAAAATACATATATATATATATATATATATATTTAAAATTCCTTGTAA AAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAG GCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0213 a0001c0001t0005g0213	1	27	0.0370	849	c.94+ others(864): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATGTATTTTTTTTTTTTTTTAATATATATTCTTTTTTTTTAA ACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCTTGGC TCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGAGGGA GAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATTTTTTTT TTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGC TGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTCCCAA AGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAATATATT TTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTTGGTTGA CTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTGTTTCCA CATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCTTTTTCT TTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCTCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTTAGTAGA GACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
CAMK2B_chr7_44212154_44330594	44254776	T T	TACCATCA others(842): Show TACCATCATCACCAACCACCATCACCATCACCACCACCATCACCACCAAC CACCATCACCATCACCACCACCATCACCACCAACCAACATCACCATCACC ACCACCATCACCACCAACCACCATCACCATCACCACCACCATCACCACCA ACCAACATCACCATCACCACCACCATCACCACCAACCAACATCACCATCA CCACCACCATCACCACCAACCAACATCACCATCACCACCACCATCACCAC CACCCAACATCACCATCACCACCACCATCACCACCAACCAACATCACCAT CACCACCACCATCACCACCAACCAACATCACCATCACCACCACCACCATC ACCACCAACCAACATCACCATCACCACCACCATCACCACCAACCGACATC ACCACCACTACCACCATCACCAGCATCATCACCACCATCACCACCACCAC GACCATCACCACCAACCAACATCACCATCACCACCACCATCACCACCAAC CAACATCACCATCACCACCACCATCACCACCAACCATCACCATCACCACC ACCATCACCACCAACCGACATCACCACCACTACCACCATCACCAGCATCA TCACCACCATCACCACCACCACCATCACCAACATCACCACCACCATTACC ATCACCACCACCACCACCACCATCACCATCATCACCATCACCATCATTAC CACCATGACCATCACCAACACCACTACCACCATCACTACCACCATCACCA TCACCAACACCACCACCACCACCATCACCATCACTGCCACCACCACCATC ATCACTATCACCATCACCACCATCACACCATTACCATTATCATCACCACC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	154	0.0065	849	c.276 others(864): Show c.276-170_276-169insGGTGGTGATGATAATGGTAATGGTGTGATG GTGGTGATGGTGATAGTGATGATGGTGGTGGTGGCAGTGATGGTGATGGT GGTGGTGGTGGTGTTGGTGATGGTGATGGTGGTAGTGATGGTGGTAGTGG TGTTGGTGATGGTCATGGTGGTAATGATGGTGATGGTGATGATGGTGATG GTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGTTGGTGATGGT GGTGGTGGTGATGGTGGTGATGATGCTGGTGATGGTGGTAGTGGTGGTGA TGTCGGTTGGTGGTGATGGTGGTGGTGATGGTGATGGTTGGTGGTGATGG TGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGATGGTGAT GTTGGTTGGTGGTGATGGTCGTGGTGGTGGTGATGGTGGTGATGATGCTG GTGATGGTGGTAGTGGTGGTGATGTCGGTTGGTGGTGATGGTGGTGGTGA TGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGGTGATGGTGATGTTGGT TGGTGGTGATGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGT GGTGATGGTGATGTTGGGTGGTGGTGATGGTGGTGGTGATGGTGATGTTG GTTGGTGGTGATGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGTG GTGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGATGGTGATGG TGGTTGGTGGTGATGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGATGG TGGTGGTGATGGTGATGGTGGTTGGTGGTGATGGTGGTGGTGATGGTGAT GGTGGTTGGTGATGATGGT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	4/23			chr7	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(842): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0003 a0008c0007t0003	a0008c0007t0003g0192 a0008c0007t0003g0192	1	38	0.0263	849	c.248 others(866): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGT CGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(842): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	38	0.0263	849	c.248 others(866): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGT CGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(842): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTC CCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCC TCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTC CTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTT TCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0117 a0001c0002t0006g0117	1	2	0.5000	849	c.162 others(870): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTC CACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTC CCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCC TCTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCCCCTCTTCCTC CCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCT CCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCC CCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTC CTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL4A1_chr13_110143963_110312157	110255884	A A	AAGGGGGA others(842): Show AAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGA AGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAGGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0083 a0001c0032t0001g0083	1	216	0.0046	849	c.85- others(866): Show c.85-13151_85-13150insCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(842): Show CGAGACCAGCCTGGCTAACAAGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTTTCACCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCGGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGTT TTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA19084.hp1 NA18966.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0148 a0001c0001t0002g0001 a0001c0001t0002g0148	2	3	0.6667	849	c.-51 others(860): Show c.-5108_-5107insGAGACCAGCCTGGCTAACAAGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTTTCACCCAGGCTGGAGTGTAGT GGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACG CCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCGGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTC TTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGT GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCA TGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(842): Show CGAGACCAGCCTGGCTAACAAGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC AATCTCCTGACCTCGTGATCCGCCGGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGTT TTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	2	0.5000	849	c.-51 others(860): Show c.-5108_-5107insGAGACCAGCCTGGCTAACAAGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGT GGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACG CCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCGGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTC TTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGT GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCA TGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(842): Show CGAGACCAGCCTGGCTAACAAGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCGGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGTT TTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00642.hp1 others(44): Show HG00140.hp2 HG00280.hp2 HG00642.hp1 HG00741.hp2 HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp2 HG01975.hp2 HG02004.hp2 HG02056.hp1 HG02602.hp1 HG02615.hp1 HG03669.hp2 HG03927.hp1 HG03942.hp1 HG06807.hp1 NA18747.hp1 NA18939.hp1 NA18945.hp2 NA18962.hp1 NA18963.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18985.hp2 NA18992.hp1 NA18999.hp1 NA19000.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0002 a0001c0001t0017 a0001c0001t0028 others(2): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0028 a0001c0001t0039 a0005c0011t0002	a0001c0001t0002g0001 a0001c0001t0002g0045 a0001c0001t0002g0046 others(14): Show a0001c0001t0002g0001 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0054 a0001c0001t0002g0130 a0001c0001t0002g0137 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0017g0001 a0001c0001t0028g0001 a0001c0001t0039g0179 a0005c0011t0002g0001	47	48	0.9792	849	c.-51 others(860): Show c.-5108_-5107insGAGACCAGCCTGGCTAACAAGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGT GGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACG CCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCGGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTC TTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGT GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCA TGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(842): Show CGAGACCAGCCTGGCTAACAAGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTTAATAAAGCTA ATTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAAT ATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCGGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGTT TTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	2	0.5000	849	c.-51 others(860): Show c.-5108_-5107insGAGACCAGCCTGGCTAACAAGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAAT CTCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGT GGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACG CCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCGGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTC TTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGT GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCA TGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(842): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGTT TTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG01081.hp1 others(92): Show HG00558.hp2 HG00673.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01192.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp2 HG01928.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18961.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18977.hp2 NA18983.hp2 NA18984.hp1 NA18990.hp2 NA18993.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19006.hp1 NA19011.hp2 NA19043.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19090.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0029 a0001c0001t0036 a0001c0001t0037	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0014 others(54): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0006g0007 a0001c0001t0006g0140 a0001c0001t0006g0155 a0001c0001t0006g0157 a0001c0001t0008g0015 a0001c0001t0008g0051 a0001c0001t0008g0087 a0001c0001t0008g0156 a0001c0001t0009g0003 a0001c0001t0009g0014 a0001c0001t0009g0017 a0001c0001t0009g0168 a0001c0001t0013g0006 a0001c0001t0013g0029 a0001c0001t0013g0131 a0001c0001t0015g0050 a0001c0001t0015g0169 a0001c0001t0016g0044 a0001c0001t0016g0141 a0001c0001t0018g0036 a0001c0001t0018g0047 a0001c0001t0022g0003 a0001c0001t0029g0007 a0001c0001t0036g0003 a0001c0001t0037g0049	95	96	0.9896	849	c.-51 others(860): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGT GGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACG CCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTC TTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGT GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCA TGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(842): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCGGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGTT TTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG01891.hp2 others(5): Show HG01109.hp2 HG01891.hp1 HG01891.hp2 HG02280.hp2 HG03195.hp2 NA18522.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0013 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0005t0001 a0001c0005t0038	a0001c0001t0001g0028 a0001c0001t0001g0133 a0001c0001t0001g0134 others(3): Show a0001c0001t0001g0028 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0013g0006 a0001c0005t0001g0023 a0001c0005t0038g0023	8	9	0.8889	849	c.-51 others(860): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGT GGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACG CCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCGGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTC TTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGT GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCA TGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(842): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCT CACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGTT TTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	2	0.5000	849	c.-51 others(860): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGT GGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACG CCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTC TTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGT GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCA TGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(842): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCT CACTGCAAGCTCCGCCTCGCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGTT TTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG03130.hp1 HG03471.hp1 others(1): Show HG02630.hp1 HG03130.hp1 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0003 a0001c0001t0009g0003 a0001c0001t0001g0003 a0001c0001t0009g0003	4	5	0.8000	849	c.-51 others(860): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGT GGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCGCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACG CCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTC TTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGT GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCA TGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
GALNT9_chr12_132191372_132334589	132243067	C C	CAGGGCCC others(842): Show CAGGGCCCTCCCTATACCCATTACACACACAACACACACCCTTCCCGGGG CCGTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTC CCTATACCCATTACACACACAACACACACTTCCCGGGGCCCTCCCTATAC CCATTACACACACAACACACCCTTCCAGGGGCCCTCCCTATCCCCATTAC ACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTTACACAC ACGCCACGCCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCC ACACCCCATTCCCGGGGCCCTCCCTATACCCATTACACACACACCACACA CCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTT CCAGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCAGG GGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCAGGGCCG TCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGCCATCCCT ATACCCATTACACACACGCCACACACCCTTCCCAGGCCGTCCCTATACCC ATTACAAACACAACACACACCCTTCCAGGGGCCCTCCCTATACCCATTAC ACACACGCCACACCCCCTTCCCGGGGCCGTCCCTATCCCCATTACACACA CACCACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACACCA CACCCCCTTCCCGGGGCCCTCCCTATACCTATTGCACACACAACACACAC TTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0095 a0001c0013t0004g0095	1	173	0.0058	849	c.107 others(868): Show c.1077+4842_1077+4843insTGGAAGGGTGTGTGGCGTGTGTGTAA TGGGTATAGGGAGGGCCCCGGGAAGTGTGTGTTGTGTGTGCAATAGGTAT AGGGAGGGCCCCGGGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGA GGGCCCCGGGAAGGGTGTGTGGTGTGTGTGTAATGGGGATAGGGACGGCC CCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGG AAGGGTGTGTGTTGTGTTTGTAATGGGTATAGGGACGGCCTGGGAAGGGT GTGTGGCGTGTGTGTAATGGGTATAGGGATGGCCCCGGGAAGGGTGTGTG TTGTGTGTGTAATGGGTATAGGGACGGCCCTGGGAAGGGTGTGTGGCGTG TGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTGTGTGT AATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTGTGTGTAATGG GTATAGGGAGGGCCCCTGGAAGGGTGTGTGGTGTGTGTGTAATGGGTATA GGGAGGGCCCCGGGAATGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAG GGCCCCGGGAAGGGGGCGTGGCGTGTGTGTAAATGGGTATAGGGAGGGCC CCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGGCCCCTGG AAGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGTGTG TGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCG TGTGTGTAATGGGTATAGGGACGGCCCCGGGAAGGGTGTGTGTTGTGTGT GTAATGGGTATAGGGAGGGCCCT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GPIHBP1_chr8_143208218_143222170	143218313	A A	AACACCAC others(842): Show AACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACA CCACCCCCAACACCATCCCCAACACCACCCCAACACCACCCCCAACACCA TCCCCAACACCACCCCAACACCACCCCCAACACCATCCCCAACACCACCC CCAACACCACCCCCAACACCATCCCCAACACCACCCCCAACACCACCCCC ACACTGCCCCCACACCAGCCCCAACACCACCCCCAACACCAGCCCCAACA CCACCCCAATACCTCCCCAACACCACCCCCAACACCACCCAACACCACCC CCAACACCATCCCCAACACCCCAATAACCCCCCAACACCACCACCAACAC CACCCAACACCATGCCCCACACCACCCCCAACACCACCCCCAACACCACC TCCACACCACCCCCAACACCACCCTAACACCACCTCACACCATCCCCAAC ACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCA CCCCCAACACCATCCCCAACACCACCCCAACACCACCCCCAACACCATCC CCAACACCACCCCAACACCACCCCCAACACCATCCCCAACACCACCCCAA CACCACCCCCAACACCATCCCCAACACCACCCCCAACACCACCCCCAACA CCATCCCCAACACCACCCCCAACACCACCCCCACACTGCCCCCACACCAG CCCCAACACCACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCC AACACCACCCCCAACACCACCCAACACCACCCCCAACACCATCCCCAACA CCCCAATAACCCCCCAACACCACCACCAACACCACCCAACACCATGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	67	0.0149	849	c.27 others(860): Show c.2795_*2796insACACCACCCCAACACCACCCCCAACACCACCCCC AACACCACCCCAACACCACCCCCAACACCATCCCCAACACCACCCCAACA CCACCCCCAACACCATCCCCAACACCACCCCAACACCACCCCCAACACCA TCCCCAACACCACCCCCAACACCACCCCCAACACCATCCCCAACACCACC CCCAACACCACCCCCACACTGCCCCCACACCAGCCCCAACACCACCCCCA ACACCAGCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACAC CACCCAACACCACCCCCAACACCATCCCCAACACCCCAATAACCCCCCAA CACCACCACCAACACCACCCAACACCATGCCCCACACCACCCCCAACACC ACCCCCAACACCACCTCCACACCACCCCCAACACCACCCTAACACCACCT CACACCATCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCAAC ACCACCCCAACACCACCCCCAACACCATCCCCAACACCACCCCAACACCA CCCCCAACACCATCCCCAACACCACCCCAACACCACCCCCAACACCATCC CCAACACCACCCCAACACCACCCCCAACACCATCCCCAACACCACCCCCA ACACCACCCCCAACACCATCCCCAACACCACCCCCAACACCACCCCCACA CTGCCCCCACACCAGCCCCAACACCACCCCCAACACCAGCCCCAACACCA CCCCAATACCTCCCCAACACCACCCCCAACACCACCCAACACCACCCCCA ACACCATCCCCAACACCCCAATAACCCCCCAACACCACCACCAACACCAC CCAACACCATGCCCC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1144		chr8	TogoVar
HPCAL1_chr2_10297904_10432604	10399223	C C	CCACCACC others(842): Show CCACCACCACCACCACCACCATCACCACCACCATCACCACCATCACCATC ATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCCACCGCCGC CACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCA CCATCACCACCACCACCACCACCACCATCACCATCATCACCACCACCATC ACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCATCAC CATCACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCA CCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCATCACC ATCATCACCACCACCACCACCACCACCATCACCATCATCACCACCACCAC CACCACCACCATCACCATCATCACCACCACCACCACCACCACCATCACCA TCATCACCGCCACCACCACCACCACCATCACCATCATCACCGCCACCACC ACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCACCATCAT CACCGCCACCACCACCACCACCATCACCACCACAACCACCACCACCACCA CCATCACCACCACTACCACCACCACCACCACCATCACCACCACCACTACC ATCATCACCACCACCACCACCACCACCACCATCACCATCACCACCACCAC CACCATCACCATCACCACCACCACCACCATCACCATCATCACCACCATCA CCGCCACCATCACCATCACCACCACCACCACCACCACCACCACCATCACC ACCACCACTACCATCATCACCACCACCACCACCACCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02683.hp1 HG03942.hp2 HG01978.hp1 HG02683.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0226 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0226	3	297	0.0101	849	c.-25 others(866): Show c.-25+2320_-25+2321insCCATCACCACCACCATCACCACCATCAC CATCATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCCACCG CCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACC ATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCACCAC CATCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCA TCACCATCACCACCACCACCACCACCACCATCACCATCATCACCACCACC ACCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCAT CACCATCATCACCACCACCACCACCACCACCATCACCATCATCACCACCA CCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCATC ACCATCATCACCGCCACCACCACCACCACCATCACCATCATCACCGCCAC CACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCACCA TCATCACCGCCACCACCACCACCACCATCACCACCACAACCACCACCACC ACCACCATCACCACCACTACCACCACCACCACCACCATCACCACCACCAC TACCATCATCACCACCACCACCACCACCACCACCATCACCATCACCACCA CCACCACCATCACCATCACCACCACCACCACCATCACCATCATCACCACC ATCACCGCCACCATCACCATCACCACCACCACCACCACCACCACCACCAT CACCACCACCACTACCATCATCACCACCACCACCACCACCACCACCATCA CCATCACCACCACCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
ICA1_chr7_8108184_8267167	8152646	A A	ACCACCAC others(842): Show ACCACCACTACCACCACCACCACCATCTCCTTCACCACCACTACCCCCAC CACTACCACCATCACCTCCTCCACCATCACCACCACCACCACAACCACCA TCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTCC ACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTACCACCAT CACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCA CCACCATCTCCTTCACCACCACTACCCCCAGCACTACCACCATCACCTCT TCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCACCACCAT TATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCA CCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCC ACCACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCAC CACTACCACCACCACCACCATCTCCTTCACCACCACTACCCCCAGCACTA CCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACC ACCACCACCACCATTATCTCCTTCATCACCACTACCCCCACCACTACCAC CATCACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCA TCACCACTACCCCCACCACTACCACCATCACCTCTTCCACCACTACCACC ATCTCCTCCACCACCACTACCACCACCACCACCATCTCCTTCACCACCAC TACCCCCAGCACTACCACCATCACCTCCTCCACCACTACCACCATCTCCT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	271	0.0037	849	c.804 others(866): Show c.804+4469_804+4470insAGGAGATGGTGGTAGTGGTGGAGGAGGT GATGGTGGTAGTGCTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGG TGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTG GTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGT GGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGA AGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTA GTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGGTGAAGGA GATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGG AAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTG GTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGG GGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGG AGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTA GTGGTGGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGAT GGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGT TGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTG GGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGT GGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGGTGAAGGAGATGG TGGTGGTGGTGGTAGTGGTGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(842): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGA GGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGG GAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAG GAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGG GAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0085 a0001c0008t0001g0085	1	13	0.0769	849	c.978 others(866): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGG CAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAG GAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGA TGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGC AGGGAGGACGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGG GAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGA GGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAG GGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGG CAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
JUND_chr19_18274694_18286622	18284532	T T	TAATAATA others(842): Show TAATAATAATAATAATAATAATAATAATAAAGACCTGGCCGTGCGCGATG GCTCACTCCTATAATCCCAGCACTTTGGGAGTCCAAAGCAGGTGGATCAT GAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTC TACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGCCTGTAGTCC CTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGGCGG AGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAGCCTGGGCAAAAG AGTAAGAATCCGTCTCAATAATAATAATAATAATAATAATAATAATGATA GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGCTGA GGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAGCAT GGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTGTGGTGG TGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATCGCT TGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCAGAGGTTG CGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAATACAAA ATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAGCCG AGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCTGCCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	311	0.0032	849	c.-30 others(860): Show c.-3049_-3048insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCG CGATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACCT CTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTG GGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTG GAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTC AGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTATTATT GAGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCT TGGCTCACTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCA GCCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAAT TTTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTC TTGATCTCCTGACCTCATGATCCACCTGCTTTGGACTCCCAAAGTGCTGG GATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATT ATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2911		chr19	TogoVar
JUND_chr19_18274694_18286622	18284532	T T	TAATAATA others(842): Show TAATAATAATAATAATAATAATAATAATAAAGACCTGGCCGTGCGCGATG GCTCACTCCTATAATCCCAGCACTTTGGGAGTCCAAAGCGGGTGGATCAT GAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTC TACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGCCTGTAGTCC CTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGGCGG AGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAGCCTGGGCAAAAG AGTAAGAATCCGTCTCAATAATAATAATAATAATAATAATAATAATGATA GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGCTGA GGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAGCAT GGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTGTGGTGG TGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATCGCT TGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCAGAGGTTG CGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAATACAAA ATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAGCCG AGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCTGCCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	311	0.0032	849	c.-30 others(860): Show c.-3049_-3048insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCG CGATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACCT CTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTG GGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTG GAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTC AGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTATTATT GAGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCT TGGCTCACTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCA GCCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAAT TTTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTC TTGATCTCCTGACCTCATGATCCACCCGCTTTGGACTCCCAAAGTGCTGG GATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATT ATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2911		chr19	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(842): Show ATATATTTATATATATTTATATATATTTATATATATATTTATATATATAT TTATATATATATTATTTATATATATATTTATATATATTTATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATTTATATATATTTATA TATATTTATATATATATTTATATATATTTATATATATTTATATATATATT TATATATATATTTATATATATATTTATATATATTTATATATATATTTATA TATATATATTTTTATATATATTTATATATATTTTTATATATAGTTATATA TATTTATATATAGTTATATATATTTATGTATAGTTATATATATTTATGTA TAGTTATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTATA TATATAGTTATATATATATATTTTTATATATATAGTTATATATATATATT TTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATATA TATATTTTTATATATATAGTTATATATATATTTATATATATAGTTATATA TTTATATATATTTATATATATTTATATATATATTTATATATTTATTTATA TATATTTATATATGTATTTATATATATTTATATATATTTATATGTATTTA TATATATTTATATATATTTATATATATATATATAAATATATTTATATATA TAAATATAAATATTTATATATATTTATATATATTTATATATATATTTATG TATATTTATATATATTTATATATATATTTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	80	0.0125	849	c.125 others(866): Show c.125+9673_125+9674insATTTATATATATTTATATATATTTATAT ATATATTTATATATATATTTATATATATATTATTTATATATATATTTATA TATATTTATATATATTTATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATTTATATATATATTTATATATATATTTATATA TATTTATATATATTTATATATATTTATATATATATTTATATATATTTATA TATATTTATATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATATTTTTATATATATTTATATATATT TTTATATATAGTTATATATATTTATATATAGTTATATATATTTATGTATA GTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATA TAGTTATGTATAGTTATATATATAGTTATATATATATATTTTTATATATA TAGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTA TATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATT TATATATATAGTTATATATTTATATATATTTATATATATTTATATATATA TTTATATATTTATTTATATATATTTATATATGTATTTATATATATTTATA TATATTTATATGTATTTATATATATTTATATATATTTATATATATATATA TAAATATATTTATATATATAAATATAAATATTTATATATATTTATATATA TTTATATATATATTTATGTATATTTATATATATTTATATATATATTTATG TATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC7_chr1_69562922_70149364	69916109	T T	TATATATA others(842): Show TATATATATTATATACATATTTTATATATATAATATATATTATATACCTA TTTTATATATATAATATATATATTATATACATATTTTATATATATAATAT ATATATTATATACATATTTTATATATATAATATATATATTATATACATAT TTTATATATATAATATATATTATATACATATTTTATATATATTATATATT ATATACATATTTCATATATATAATATATATATTATATACATATTTCATAT ATATAATATATATTATATACATATTTCATATATAATATATATATTATATA CATATTTTATATATTATATATATTATATACATATTTTATATATTATATAT ATTATATACATATTTTATATATTATATATATTATATACATATTTTATATA TAATATATATAATATACATATTTTATATATAATATACATATTTTATATAT ATAATATATATAATATACATATTTTATATATATAATATATATAATATACA TATTTTATATATATAATATATATAATATACATATTTTATATATAATATAT ATAATATACATATTTTATATATATAATATATATAATATACATATTTTATA TATAATATATATTATATACATATTTTATATATATAATATATATTATATAC ATATTTTATATATATAATATATATTATATACATATTTTATATATAATATA TATTATATACATATTTTATATATATAATATATATTATATACATATTTTAT ATATATAATATATATTATATACATATTTTATATATATAATATATATTATA TACATATTTTATATATATAATATATATTATATACATATTTTATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0067 a0001c0001t0069g0067	1	74	0.0135	849	c.648 others(868): Show c.648-15359_648-15358insTATATACCTATTTTATATATATAATA TATATATTATATACATATTTTATATATATAATATATATATTATATACATA TTTTATATATATAATATATATATTATATACATATTTTATATATATAATAT ATATTATATACATATTTTATATATATTATATATTATATACATATTTCATA TATATAATATATATATTATATACATATTTCATATATATAATATATATTAT ATACATATTTCATATATAATATATATATTATATACATATTTTATATATTA TATATATTATATACATATTTTATATATTATATATATTATATACATATTTT ATATATTATATATATTATATACATATTTTATATATAATATATATAATATA CATATTTTATATATAATATACATATTTTATATATATAATATATATAATAT ACATATTTTATATATATAATATATATAATATACATATTTTATATATATAA TATATATAATATACATATTTTATATATAATATATATAATATACATATTTT ATATATATAATATATATAATATACATATTTTATATATAATATATATTATA TACATATTTTATATATATAATATATATTATATACATATTTTATATATATA ATATATATTATATACATATTTTATATATAATATATATTATATACATATTT TATATATATAATATATATTATATACATATTTTATATATATAATATATATT ATATACATATTTTATATATATAATATATATTATATACATATTTTATATAT ATAATATATATTATATACATATTTTATATATATAATATATATTATATACA TATTTTATATATATAATATATAT	LRRC7	ENSG00000033122.21	transcript	ENST00000651989.2	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
LYPD8_chr1_248734415_248760759	248742282	G G	GCGGGGGA others(842): Show GCGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGTCGGGGGAGATTAT GCTCTGGTGGGGATGTTGGCAGCCGGGGAGGTTATGCTCTGGTGGGGATG TTGGCAGCCGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCCGGGGAG ATTATGCTCTGGTGGGGATGTTGGCAGTCGGGGGAGATTATGCTCTGGTG GGGATGTTGGCAGTGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCG GGGGAGATTATGCTCTGGTGGGGATGTTGGCAGTCGGGGGAGATTATGCT CTGGTGGGGATGTTGGCAGCCGGGGAGGTTATGCTCTGGTGGGGATGTTG GCAGCCGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCCGGGGAGATT ATGCTCTGGTGGGGATGTTGGCAGTCGGGGGAGATTATGCTCTGGTGGGG ATGTTGGCAGTGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCGGGG GAGATTATGCTCTGGTGGGGATGTTGGCAGTCGGGGGAGATTATGCTCTG GTGGGGATGTTGGCAGCCGGGGAGGTTATGCTCTGGTGGGGATGTTGGCA GCCGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCCGGGGAGATTATG CTCTGGTGGGGATGTTGGCAGTCGGGGGAGATTATGCTCTGGTGGGGATG TTGGCAGTGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCCGGGGGA GATTATGCTCTGGTGGGGATGTTGGCAGCCGGGGAGATTATGCTCTGGTG GGGATGTTGGCAGCCGGGGGAGATTACGCTCTGGTGGGGATGTTGGCAGC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	370	0.0027	849	c.476 others(866): Show c.476-2434_476-2433insGCTGCCAACATCCCCACCAGAGCGTAAT CTCCCCCGGCTGCCAACATCCCCACCAGAGCATAATCTCCCCGGCTGCCA ACATCCCCACCAGAGCATAATCTCCCCCGGCTGCCAACATCCCCACCAGA GCATAATCTCCCCCACTGCCAACATCCCCACCAGAGCATAATCTCCCCCG ACTGCCAACATCCCCACCAGAGCATAATCTCCCCGGCTGCCAACATCCCC ACCAGAGCATAATCTCCCCGGCTGCCAACATCCCCACCAGAGCATAACCT CCCCGGCTGCCAACATCCCCACCAGAGCATAATCTCCCCCGACTGCCAAC ATCCCCACCAGAGCATAATCTCCCCCGCTGCCAACATCCCCACCAGAGCA TAATCTCCCCCACTGCCAACATCCCCACCAGAGCATAATCTCCCCCGACT GCCAACATCCCCACCAGAGCATAATCTCCCCGGCTGCCAACATCCCCACC AGAGCATAATCTCCCCGGCTGCCAACATCCCCACCAGAGCATAACCTCCC CGGCTGCCAACATCCCCACCAGAGCATAATCTCCCCCGACTGCCAACATC CCCACCAGAGCATAATCTCCCCCGCTGCCAACATCCCCACCAGAGCATAA TCTCCCCCACTGCCAACATCCCCACCAGAGCATAATCTCCCCCGACTGCC AACATCCCCACCAGAGCATAATCTCCCCGGCTGCCAACATCCCCACCAGA GCATAATCTCCCCGGCTGCCAACATCCCCACCAGAGCATAACCTCCCCGG CTGCCAACATCCCCACCAGAGCATAATCTCCCCCGACTGCCAACATCCCC ACCAGAGCATAATCTCCCCCG	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
MAML2_chr11_95971598_96348195	96089966	C C	CCATTGGT others(842): Show CCATTGGTGTGCTTGGGTCCTAGAAACTCGGGTGGGGACTAAGAGGTCAG GAATATGGTTTATAGTTGCTGATATCAGCAGTATGTCCGGAAACAGACCA GAGGATGTTGGAGGTGGCAGGGAGGCTCCCAGAAAAGGACTGATGGGGCA CCAAAGATATATGTTTCTACGTGGTGGCTCGTGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGAGGGCGGATCACTAGCTCAGGAATTCTAGACCAGCA TGGCCAACTTGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCA GGCTTGGTGATGCCCGCCTGTAATCCGAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCTGGGAAGTGGAAGTTGCAGCGAGCCGAGATCAAG CCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAA AAAAAAAGATATATATTTCCTTTTGTAAATTGTTTATTTTGGCTAACTCC ATAATGTTTACCCTCAGGAAGGCTAACAGTCACACAGATATGTATGTATG TATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTATA TAAAATTTCTTTAGCGTCTCTAAAGAATAGAGTTTAGGATATGTTTTTAT CCCAAAGGACTTAATCTACTATGTAGATTATGTAAGTAGGGCTCAACATT AGAAGAATATTCTTTTTAAGAATTCCACAATGATCTAGGACTCCAGCAAA TCCTACCTGTGAGCTGTAGATCCTAGTGGCTGAAAGTATAGGCTTCAAAG TAGATCATCAGAATCCTGCAGCTGCTACTCATTATCTGTGCGAACTTGGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0005 a0004c0007t0005	a0004c0007t0005g0005 a0004c0007t0005g0005	1	123	0.0081	849	c.213 others(868): Show c.2139+1925_2139+1926insCCCAAGTTCGCACAGATAATGAGTAG CAGCTGCAGGATTCTGATGATCTACTTTGAAGCCTATACTTTCAGCCACT AGGATCTACAGCTCACAGGTAGGATTTGCTGGAGTCCTAGATCATTGTGG AATTCTTAAAAAGAATATTCTTCTAATGTTGAGCCCTACTTACATAATCT ACATAGTAGATTAAGTCCTTTGGGATAAAAACATATCCTAAACTCTATTC TTTAGAGACGCTAAAGAAATTTTATATACACACACATACACACACACACA CACACACACACACACACACACATACATACATACATATCTGTGTGACTGTT AGCCTTCCTGAGGGTAAACATTATGGAGTTAGCCAAAATAAACAATTTAC AAAAGGAAATATATATCTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCGCTGCAACTTCC ACTTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGG ATTACAGGCGGGCATCACCAAGCCTGGCTAATTTTTATATTTTTAGTAGA GATGGGGTTTCACCAAGTTGGCCATGCTGGTCTAGAATTCCTGAGCTAGT GATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCA CCACGTAGAAACATATATCTTTGGTGCCCCATCAGTCCTTTTCTGGGAGC CTCCCTGCCACCTCCAACATCCTCTGGTCTGTTTCCGGACATACTGCTGA TATCAGCAACTATAAACCATATTCCTGACCTCTTAGTCCCCACCCGAGTT TCTAGGACCCAAGCACACCAATG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
NCAPG2_chr7_158626169_158709804	158667493	G G	GCCTTACC others(842): Show GCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTC CCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACT ACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCC GCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGG GTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCC ACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCT CCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTC CCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCC GCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGG GTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTAC CCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGC CCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGG TCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCA CTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTC	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	289	0.0035	849	c.148 others(868): Show c.1480-2744_1480-2743insGAGGGCGGAGGGACCCAGTAGTGGGT AAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGG GAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTA GTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGG GACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCG GGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGG GTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCC AGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCG GAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTA AGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGG GACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAG GGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGG GTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCC AGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCG GAGGGACCCAGTAGTGGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667732	C C	CTACTGGG others(842): Show CTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTC CCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTA CTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTT ACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCG CCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGG GTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACC CACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCC TCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTC CCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCC GCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTG GGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACC CACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCC GCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	215	0.0047	849	c.148 others(868): Show c.1480-2983_1480-2982insAGTGGGTAAGGCGGGCGGAGGGACCC AGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCG GAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAA GGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTA GTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGG ACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCG GGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGG GTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCC AGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGG AGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAA GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTG GGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACC CAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGT AAGGCGGGCGGAGGGACCCAGTA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NRXN3_chr14_78165373_79873291	79257430	G G	GTGGTGGT others(842): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGT GGTGGTAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTG GTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGATGGTGGTGGTAGTGATGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGGTAGTGATG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTAATGATGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTAGTGATGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTGGTGGTGATGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0016 a0002c0005t0016	a0002c0005t0016g0022 a0002c0005t0016g0022	1	17	0.0588	849	c.326 others(872): Show c.3263-209778_3263-209777insGGTGGTGGTGGTGATGGTGGTG ATGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTAATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTAGTG ATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTAGTGATGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGG TGGTGGTAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTAA TGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGT GGTAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGATGGTGGTGGTGGT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NXN_chr17_794310_984776	841642	T T	TGACCACG others(842): Show TGACCACGGAGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGC ATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGG GCGAGCAGGTCCTCCCGACCATGGAGCATCTCACACCCGCGAGCAGGTCC TCCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCGACCACGG AGCATCTCACACGGGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACGC CGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGG TCCCCCCTGACCACGGAGCATCTCACACCCGCGAGCAGGTCCCCCCGACC ACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCT CACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGA GCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCC CTGACCACGGAGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCG CATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACC CACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTC CACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCA CGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTC ACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAG CAGGTCCACCCTGACCACGGCGCATCTCACATGGGCGAGCAGGTCCCCCC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	214	0.0047	849	c.361 others(868): Show c.361-15565_361-15564insGGGGGGACCTGCTCGCCCATGTGAGA TGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGT CAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACC TGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGT GTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGC CGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCTCCGTGGTCAGGGG GGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGT GGGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGAT GCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTC AGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCT GCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCGGGTGT GAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCG TGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGAGG ACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGGGGACCTGCTCGCCG GCGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCT CCATGGTCGGGAGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGG TGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCG TGGGTGTGAGATGCTCCGTGGTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(842): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGG GGGAGAGAAGGGGAGGGGGAGACAAGGGGGAGAGAAGGGGAGGGGGAGAG GGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGG GGAGAGAGGGGGAGGGGGAGAGAGGGGGAGAGAAAGGGAGAGGGGGAGAG GGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAA GGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGGGGAGAGG GGGAGAGGTGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGAGGA GGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGAG AGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAG GAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAGA GAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAGG GCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAGG GTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGAGA GAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAGA GAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGA GGGCGGGCAAGAGAGAGAGAGAGAGGGCGAGAGGGAGAGAGAGGGAGAGG GCGAGAGGGAGAGAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp2 HG03942.hp1 others(2): Show HG02559.hp1 HG02818.hp2 HG03942.hp1 NA18968.hp1 NA18973.hp2	a0009 a0022 a0044 a0009 a0022 a0044	a0009c0025 a0022c0027 a0044c0035 a0009c0025 a0022c0027 a0044c0035	a0009c0025t0001 a0022c0027t0001 a0044c0035t0001 a0009c0025t0001 a0022c0027t0001 a0044c0035t0001	a0009c0025t0001g0133 a0009c0025t0001g0134 a0022c0027t0001g0198 others(2): Show a0009c0025t0001g0133 a0009c0025t0001g0134 a0022c0027t0001g0198 a0022c0027t0001g0246 a0044c0035t0001g0014	5	28	0.1786	849	c.371 others(866): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTC TCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTC TCTCTCTCTTGCCCACCCTCTCTCTCTCTCACCCGCCCTCTCTCTCGCCT GCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCCTCTCTCTCTCTCGCCC TCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTCTCGCCCTCTCTCTCAC CTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTCTCAC CCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCTCTCC CCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTC CCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCCTCCTCCCCCTCTC CCCCTCCTCCCCCTCCTCCCCCTCCTCCCCTCCTCCCCCTCCTCCCCCTC CTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCT CTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCC CCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTCTCCCTTTCTCTCCCCCT CTCTCCCCCTCCCCCTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCT CTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTTG TCTCCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCTC TCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PNPLA7_chr9_137454952_137555402	137502730	G G	GGGGGGAC others(842): Show GGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGGACGGGG GGGACGGGGGGGGCGGGGGGGGCGGGGGGGGGCGGGGGGGACGGGGGGGG CGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGGACGGGG GGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGGACGGGGGGGA CGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGGACGGG GGGGACGGGGGGGGGGACGGGGGGGGACGCGGGGGGGACGCGGGGGGGAC GCGGGGGGGACGGGGGGGGACGCGGGGGGGACGGGGGGGGACGGGGGGGA CGGGGGGGGGACGGGGGGGACGGGGGGGGGACGGGGGGGACGCGGGGGGG ACGGGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGG GGGGACGCGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGGACGGGGGG GACGCGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGAC GCGGGGGGGACGGGGGGGACGGGGGGGGGCGGGGGGGGCGGGGGGGGGCG GGGGGGACGGGGGGGGACGGGGGGGGCGGGGGGGGGCGGGGGGGACGCGG GGGACGGGGGGGACGCGGGGGACGGGGGGACGGGGGGGGACGCGGGGGAC GGGGGGGACGCGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCG GGGGACGGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGG ACGCGGGGGGACGGGGGGGACGCGGGGGACGCAGGGGACGGGGGGGACGC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0053 a0005c0053	a0005c0053t0001 a0005c0053t0001	a0005c0053t0001g0132 a0005c0053t0001g0132	1	113	0.0088	849	c.147 others(868): Show c.1474-1004_1474-1003insGCGTCCCCCCCGTCCCCTGCGTCCCC CGCGTCCCCCCCGTCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCG TCCCCCCCGTCCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCC CCCCGTCCCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCCGTCCCCC CGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGCCCCCCCCCGCC CCCCCCGTCCCCCCCCGTCCCCCCCGCCCCCCCCCGCCCCCCCCGCCCCC CCCCGTCCCCCCCGTCCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCC CGTCCCCCCCGTCCCCCCCGCGTCCCCCCCGTCCCCCCCGCGTCCCCCCC GTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCC CCGCGTCCCCCGCGTCCCCCCCGTCCCCCCCGCGTCCCCCCCGTCCCCCC CCCGTCCCCCCCGTCCCCCCCCCGTCCCCCCCGTCCCCCCCCGTCCCCCC CGCGTCCCCCCCCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCC CCCCCCGTCCCCCCCCCCGTCCCCCCCGTCCCCCCCCGTCCCCCCCGTCC CCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGCGTCCCCC CCGTCCCCCCCGTCCCCCCCGTCCCCCCGTCCCCCCCGCGTCCCCCCCGT CCCCCCCGTCCCCCGCGTCCCCCGCCCCCCCCGTCCCCCCCGCCCCCCCC CGCCCCCCCCGCCCCCCCCGTCCCCCCCGTCCCCCCCGCGTCCCCCCCGT CCCCCCCGTCCCCCGCGTCCCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(842): Show AGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCA TCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGC CTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAG TTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGG GGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTC TGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGT CCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTT TCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCA GCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGG CGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0287 a0001c0008t0003g0287	1	210	0.0048	849	c.227 others(866): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCA CCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTG AGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTG TCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTT CTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAG CCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGC GGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGTTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRDM15_chr21_41793225_41884344	41814641	T T	TCGTGTTA others(842): Show TCGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATGAGAATGCCTTG TGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATGAGAATGCCTTGTGT TAGTGATTGCGCAGGGTGCTCTAGTGTGTTATGAGAACGACTCGTGTTAG TGATTGCGCAGGGTGCTCTAGTGTTTTATGAGAATGCCTCGTGTTACTGA TTGCGCAGGGTGCTCTAGTGTTTTATGAGAATGCCTCGTGTTAGTGATTG CGCAGGGTGCTCTAGTGTGTTATGAGAATGCCTCGTGTTAGTGATTGCGC AGGGTGCTCTAGTGTTTTATGAGAATGCCTCGTGTTAGTGATTGCGCAGG GTGCTCTAGTGTTTTATGAGAATGCCTCGTGTTAGTGATTGCGCAGGGTG CTCTAGTGTTTTATGAGAATGCCTCGTGTTAGTGATTGCGCAGGGTGCTC TAGTGTTTTATGAGAATGCCTCGTGTTAGTGATTGCACAGGGTGCTCTAG TGTTTTATGAGAATGCCTCGTGTTAGTGATTGCGCAGGGTGCTCTAGTGT TTTATGAGAATGCCTTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTT ATGAGAACGACTTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATG AGAATGCCTCATGTTAGTGATTGCGCAGCGTGCTCTAGTGTTTTATGAGA ATGGCTGTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATGAGAAT GCCTTGTGTTAGTGATTGCGCCGGGTGCTCTAGTGTTTTATGAGAATGGC TGTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATGAGAATGGCTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0150 a0001c0001t0016g0150	1	402	0.0025	849	c.239 others(868): Show c.2392+1063_2392+1064insCAGCCATTCTCATAAAACACTAGAGC ACCCTGCGCAATCACTAACACACAGCCATTCTCATAAAACACTAGAGCAC CCGGCGCAATCACTAACACAAGGCATTCTCATAAAACACTAGAGCACCCT GCGCAATCACTAACACACAGCCATTCTCATAAAACACTAGAGCACGCTGC GCAATCACTAACATGAGGCATTCTCATAAAACACTAGAGCACCCTGCGCA ATCACTAACACAAGTCGTTCTCATAAAACACTAGAGCACCCTGCGCAATC ACTAACACAAGGCATTCTCATAAAACACTAGAGCACCCTGCGCAATCACT AACACGAGGCATTCTCATAAAACACTAGAGCACCCTGTGCAATCACTAAC ACGAGGCATTCTCATAAAACACTAGAGCACCCTGCGCAATCACTAACACG AGGCATTCTCATAAAACACTAGAGCACCCTGCGCAATCACTAACACGAGG CATTCTCATAAAACACTAGAGCACCCTGCGCAATCACTAACACGAGGCAT TCTCATAAAACACTAGAGCACCCTGCGCAATCACTAACACGAGGCATTCT CATAACACACTAGAGCACCCTGCGCAATCACTAACACGAGGCATTCTCAT AAAACACTAGAGCACCCTGCGCAATCAGTAACACGAGGCATTCTCATAAA ACACTAGAGCACCCTGCGCAATCACTAACACGAGTCGTTCTCATAACACA CTAGAGCACCCTGCGCAATCACTAACACAAGGCATTCTCATAAAACACTA GAGCACCCTGCGCAATCACTAACACAAGGCATTCTCATAAAACACTAGAG CACCCTGCGCAATCACTAACACG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	19/23			chr21	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(842): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAACATATATTATATAATATGTAATACACAACATATATTATATAATATG TAATACACAACATATATTATATAATATGTAATACACAACATATATTATAT AATATGTAATACACAACATATATTATATAATATGTAATACACAACATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACATTATACATTATTATATAAGTATATGTAATACATTATAC ATTATTATATAAGTATATGTAATACATTATACATTATTATATAAGTATAT GTAATATATATTATACATTATTATATAAGTATATGTAATATATAGTATAC ATTATTATATAAGCATATAATATATAATACATAATACATTATATATAAGC ATATAACAATACATAATACATTATATATAAGCATATAACAATACATAGTA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	19	0.0526	849	c.24+ others(866): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAACATATATTATATAATATGTAATACA CAACATATATTATATAATATGTAATACACAACATATATTATATAATATGT AATACACAACATATATTATATAATATGTAATACACAACATATATTATATA ATATGTAATACACAACATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACATTATACATTATTATATA AGTATATGTAATACATTATACATTATTATATAAGTATATGTAATACATTA TACATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAG TATATGTAATATATAGTATACATTATTATATAAGCATATAATATATAATA CATAATACATTATATATAAGCATATAACAATACATAATACATTATATATA AGCATATAACAATACATAGTA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(842): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAACATATATTATATAATATG TAATACACAACATATATTATATAATATGTAATACACAACATATATTATAT AATATGTAATACACAACATATATTATATAATATGTAATACACAACATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACATTATACATTATTATATAAGTATATGTAATACATTATAC ATTATTATATAAGTATATGTAATACATTATACATTATTATATAAGTATAT GTAATATATATTATACATTATTATATAAGTATATGTAATATATAGTATAC ATTATTATATAAGCATATAATATATAATACATAATACATTATATATAAGC ATATAACAATACATAATACATTATATATAAGCATATAACAATACATAGTA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02896.hp2 HG01168.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0083 a0001c0001t0008 a0001c0001t0083	a0001c0001t0008g0124 a0001c0001t0083g0123 a0001c0001t0008g0124 a0001c0001t0083g0123	2	20	0.1000	849	c.24+ others(866): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAACATATATTATATAATATGTAATACACAACATATATTATATAATATGT AATACACAACATATATTATATAATATGTAATACACAACATATATTATATA ATATGTAATACACAACATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACATTATACATTATTATATA AGTATATGTAATACATTATACATTATTATATAAGTATATGTAATACATTA TACATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAG TATATGTAATATATAGTATACATTATTATATAAGCATATAATATATAATA CATAATACATTATATATAAGCATATAACAATACATAATACATTATATATA AGCATATAACAATACATAGTA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RCBTB2_chr13_48483963_48538080	48527356	T T	TATATATA others(842): Show TATATATATGATATATATATATGATATATATATATGATATATATATATGA TATATATATATGATATATATATATGATATATATATATGATATATATATAT GATATATATATGATATATATATATGATATATATATATGATATATATATAT GATATATATATATGATATATATATATGATATATATATATGATATATATAT ATGATATATATATGATATATATATATGATATATATATATGATATATATAT ATGATATATATATATGATATATATATATGATATATATATATGATATATAT ATATGATATATATATATGATATATATATATGATATATATATATGATATAT ATATATGATATATATATGATATATATATGATATATATATGATATATATAT GATATATATATGATATATATATGATATATATATGATATATATATATGATA TATATATATGATATATATATATGATATATATATATGATATATATATATGA TATATATATATGATATATATATATGATATATATATGATATATATATGATA TATATATGATATATATATGATATATATATGATATATATATGATATATATA TGATATATATATATGATATATATATGATATATATATATGATATATATATA TGATATATATATATGATATATATATGATATATATATATGATATATATATA TGATATATATATATGATATATATATATGATATATATATATGATATATATA TATGATATATATATGATATATATATGATATATATATATGATATATATATA TGATATATATATATGATATATATATGATATATATATATGATATATATATG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0005 a0001c0005t0002g0005	1	268	0.0037	849	c.-21 others(868): Show c.-218-2600_-218-2599insCATATATATATCATATATATATATCA TATATATATCATATATATATATCATATATATATATCATATATATATATCA TATATATATCATATATATATCATATATATATATCATATATATATATCATA TATATATATCATATATATATATCATATATATATATCATATATATATATCA TATATATATCATATATATATATCATATATATATATCATATATATATATCA TATATATATCATATATATATATCATATATATATCATATATATATCATATA TATATCATATATATATCATATATATATCATATATATATCATATATATATC ATATATATATATCATATATATATATCATATATATATATCATATATATATA TCATATATATATATCATATATATATATCATATATATATATCATATATATA TCATATATATATCATATATATATCATATATATATCATATATATATCATAT ATATATCATATATATATCATATATATATATCATATATATATATCATATAT ATATATCATATATATATATCATATATATATATCATATATATATATCATAT ATATATATCATATATATATATCATATATATATATCATATATATATATCAT ATATATATATCATATATATATCATATATATATATCATATATATATATCAT ATATATATATCATATATATATATCATATATATATATCATATATATATATC ATATATATATATCATATATATATCATATATATATATCATATATATATATC ATATATATATATCATATATATATATCATATATATATATCATATATATATA TCATATATATATATCATATATAT	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
RIN3_chr14_92508781_92693994	92547347	C C	CTTTATTT others(842): Show CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTA TTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTA TTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTT TATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATC TTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTA TCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAAT TATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAA ATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAAT AAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAA ATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATA AAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTTTATTATTA TAAAATAAATTATCTTTTTATTATTATAAAATAAATTATCTTTATTTTAT TATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTT ATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATT TTATTATAAAATAAATTATCTTTATTATTATAAAATAAATTATCTTTATT ATTATAAAATAAATTATCTTTATTTTATTATTATAATAAATTATCTTTAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0157 a0004c0004t0002g0157	1	126	0.0079	849	c.45- others(864): Show c.45-8398_45-8397insTTATTATTATAAAATAAATTATCTTTATTT TATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTAT CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAA AATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTAT AAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATT ATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTT TATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTAT TTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTT ATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCT TTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTAT CTTTTTATTATTATAAAATAAATTATCTTTTTATTATTATAAAATAAATT ATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAA TTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATA AATTATCTTTATTTTATTATAAAATAAATTATCTTTATTATTATAAAATA AATTATCTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAT AAATTATCTTTATTTTATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(842): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATAT TTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATACATGT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	129	0.0078	849	c.-75 others(868): Show c.-758+6737_-758+6738insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAACATGTATCTATAAACTAAATATATA AATATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAA ACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATAT ATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAAT ATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATC TATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATA AATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATA TATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAA TATATAAATATGTATTTATAAACTAAATATATAAATATGTATTTATAAAC TAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTAT AAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTAT AAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTAT AAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(842): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATAT TTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATAT ATATTTATATATTTAGTTTATAGATACATGTTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	129	0.0078	849	c.-75 others(868): Show c.-758+6737_-758+6738insCTATAAACTAAATATATAAACATGTA TCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATA AATATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAA ACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATAT ATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAAT ATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATC TATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATAT TTATCTATAAACTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATA AATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATA TATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAA TATATAAATATGTATTTATAAACTAAATATATAAATATGTATTTATAAAC TAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTAT AAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTAT AAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTAT AAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(842): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATAT TTAGTTTATAGATACATGTTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18959.hp2 NA18968.hp2 others(1): Show HG01168.hp2 NA18959.hp2 NA18968.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0006 a0001c0001t0001g0129 a0001c0001t0003g0073 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0129 a0001c0001t0003g0073 a0001c0001t0003g0074	4	132	0.0303	849	c.-75 others(868): Show c.-758+6737_-758+6738insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAACATGTATCTATAAACTAAATATATAAATATATATTTATCTATAA ACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATAT ATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAAT ATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATC TATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATAT TTATCTATAAACTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATA AATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATA TATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAA TATATAAATATGTATTTATAAACTAAATATATAAATATGTATTTATAAAC TAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTAT AAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTAT AAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTAT AAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SCNN1D_chr1_1275436_1297025	1289847	G G	GTCTCTGC others(842): Show GTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCATCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATCCC CCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCATCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCATGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0241 a0001c0009t0001g0241	1	227	0.0044	849	c.166 others(866): Show c.1663-422_1663-421insTCTGCTCCGTCCCCCGAGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATCCCCCGTGTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCATCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCATCCCCCGTGTCTGCTCCGTCCCG TGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCATGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43339755	C C	CCCCCACT others(842): Show CCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCC CCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCCCC CACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCCCCAC TCTCCTCATTCTACCCCCCACAAGCATCGCTCCAACCCTCCCCTACTCTC CTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCT CATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCAT TCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCT ATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACC CCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCC CCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCAC AAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAA GCATTGCTTCAACCCTCCCCCACGCTCCTCATTCTATCCCCCCACAAGCA TCGCTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGCATCA CTCCAGCCCTCCCCTACTCTCCTCACTATCCCCCCACAAGCATCACTCCA ACCCTCCCCTACTCTCCTCATTCTACCCCCCCCAAGCATAGCTCCAACCC TCCCCCAACTCTCCTCATTCTACCCCCCCCACAAGCATAGCTCCAACCCT CCCCCCACTCTCCTCATTCTACCCCCCCCCACAAGCACTGCTCCAACCCT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0009 a0009	a0009c0026 a0009c0026	a0009c0026t0044 a0009c0026t0049 a0009c0026t0044 a0009c0026t0049	a0009c0026t0044g0051 a0009c0026t0049g0074 a0009c0026t0044g0051 a0009c0026t0049g0074	2	193	0.0104	849	c.89- others(862): Show c.89-521_89-520insAGGGTTGGAGCAGTGCTTGTGGGGGGGGGTAG AATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAGA ATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAATG AGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGAG AGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGT AGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGCGTGGG GGAGGGTTGAAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGG AGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGG TTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTT GGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAG CAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCT ATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGC TTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTT GTGGGGGGATAGAATGAGGAGAGTAGGGGAGGGTTGGAGCGATGCTTGTG GGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCTATGCTTGTGGGGG GATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGA TAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATA GAATGAGGAGAGTGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
TJP3_chr19_3703384_3755813	3742670	T T	TGGTGGCT others(842): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAG ATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCC GTCTCTACTAAAAACACAAAAAATTAGCCGGGCGTGGTCGAGGGCGCCTG TGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGCGGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGG TGACAGAGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAAGAAATAC AAGGCCACAGCAGTTAATTTCTTTCTTTCTTTTTTTTTTTTTTTGAGACA GTGTCTCGCTTTGTCACTCAGGCTGGAGTGTAGTGGTGTGATCTCGGCTC ACTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTCGTGCCTCAGCCTCC CGAGTAGCTGGAATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGT ATTGTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGACGGTCTTGATC TCTTGACCTCGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGTGTGAGCCACCGCGCCCGGCCCACAACAGTTAATTTCTATCCCCAGC CAGTGAAAACATAAAATACGGCCAGGAAGCCTGGAAGAAGGGGAGAAAAA GAGGCCGGGTGTGATGGCTCATGCCTGTAATCCCAGCACTTTGGAGGGCT GAGGTGGGGAGGATGGCTTGAGCCCAGGAGTTTTGAGATCAGCCTGGGCA ACACAGCAAGACCTCGTCTCTATGAAAATAAAAAAAACTGGGCCGGGCGC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0381 a0001c0022t0001g0381	1	128	0.0078	849	c.184 others(868): Show c.1844-1227_1844-1226insCGGGCAGATCACGAGGTCAGGAGATC AAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAACACAA AAAATTAGCCGGGCGTGGTCGAGGGCGCCTGTGGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGCGGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAT CTCAAAAAACAAACAAAAAAAAAAGAAATACAAGGCCACAGCAGTTAATT TCTTTCTTTCTTTTTTTTTTTTTTTGAGACAGTGTCTCGCTTTGTCACTC AGGCTGGAGTGTAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCCCCT GGGTTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGAATTACAG GCGCCTGCCACCACGCCTGGCTAATTTTTGTATTGTTAGTAGAGACGGGG TTTCACTATGTTGGCCAGGACGGTCTTGATCTCTTGACCTCGTGATTCGC CTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCC CGGCCCACAACAGTTAATTTCTATCCCCAGCCAGTGAAAACATAAAATAC GGCCAGGAAGCCTGGAAGAAGGGGAGAAAAAGAGGCCGGGTGTGATGGCT CATGCCTGTAATCCCAGCACTTTGGAGGGCTGAGGTGGGGAGGATGGCTT GAGCCCAGGAGTTTTGAGATCAGCCTGGGCAACACAGCAAGACCTCGTCT CTATGAAAATAAAAAAAACTGGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGG	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
TJP3_chr19_3703384_3755813	3742670	T T	TGGTGGCT others(842): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAG ATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCC GTCTCTACTAAAAACACAAAAAATTAGCCGGGCGTGGTCGAGGGCGCCTG TGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGG TGACAGAGTGAGACTCCATCTCAAAAAACAAACAAACAAAAAGAAATACA AGGCCACACAGTTAATTTCTTTCTTTCTTTCTTTCTTTTTTTTTGAGACA GTGTCTCGCTTTGTCACTCAGGCTGGAGTGTAGTGGTGTGATCTCGGCTC ACTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTCGTGCCTCAGCCTCC CGAGTAGCTGGAATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTGT ATTGTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGACGGTCTTGATC TCTTGACCTCGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGTGTGAGCCACCGCGCCCGGCCCACAACAGTTAATTTCTATCCCCAGC CAGTGAAAACATAAAAATATGGCCAGGAAGCCTGGAAGAAGGGGAGAAAA AGAGGCCGGGTGTGATGGCTCATGCCTGTAATCCCAGCACTTTGGAGGGC TGAGGTGGGAGGATGGCTTGAGCCCAGGAGTTTTGAGATCAGCCTGGGCA ACACAGCAAGACCTCGTCTCTATGAAAATAAAAAAAACTGGGCCGGGCGC	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA19080.hp1 HG02155.hp1 NA19080.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0135 a0006c0013t0001g0262 a0006c0013t0001g0135 a0006c0013t0001g0262	2	129	0.0155	849	c.184 others(868): Show c.1844-1227_1844-1226insCGGGCAGATCACGAGGTCAGGAGATC AAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAACACAA AAAATTAGCCGGGCGTGGTCGAGGGCGCCTGTGGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAT CTCAAAAAACAAACAAACAAAAAGAAATACAAGGCCACACAGTTAATTTC TTTCTTTCTTTCTTTCTTTTTTTTTGAGACAGTGTCTCGCTTTGTCACTC AGGCTGGAGTGTAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCCCCT GGGTTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGAATTACAG GCGCCTGCCACCATGCCTGGCTAATTTTTGTATTGTTAGTAGAGACGGGG TTTCACTATGTTGGCCAGGACGGTCTTGATCTCTTGACCTCGTGATTCGC CTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCC CGGCCCACAACAGTTAATTTCTATCCCCAGCCAGTGAAAACATAAAAATA TGGCCAGGAAGCCTGGAAGAAGGGGAGAAAAAGAGGCCGGGTGTGATGGC TCATGCCTGTAATCCCAGCACTTTGGAGGGCTGAGGTGGGAGGATGGCTT GAGCCCAGGAGTTTTGAGATCAGCCTGGGCAACACAGCAAGACCTCGTCT CTATGAAAATAAAAAAAACTGGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGG	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
TJP3_chr19_3703384_3755813	3742670	T T	TGGTGGCT others(842): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAG ATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCC GTCTCTACTAAAAACACAAAAAATTAGCCGGGCGTGGTCGAGGGCGCCTG TGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGG TGACAGAGTGAGACTCCATCTCAAAAAACAAACAAACAAAAAGAAATACA AGGCCACACAGTTAATTTCTTTCTTTCTTTCTTTTTTTTTTTTTGAGACA GTGTCTCGCTTTGTCACTCAGGCTGGAGTGTAGTGGTGTGATCTCGGCTC ACTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTCGTGCCTCAGCCTCC CGAGTAGCTGGAATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTGT ATCGTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGACGGTCTTGATC TCTTGACCTCGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGTGTGAGCCACCGCGCCCGGCCCACAACAGTTAATTTCTATCCCCAGC CAGTGAAAACATAAAAATATGGCCAGGAAGCCTGGAAGAAGGGGAGAAAA AGAGGCCGGGTGTGATGGCTCATGCCTGTAATCCCAGCACTTTGGAGGGC TGAGGTGGGAGGATGGCTTGAGCCCAGGAGTTTTGAGATCAGCCTGGGCA ACACAGCAAGACCTCGTCTCTATGAAAATAAAAAAAACTGGGCCGGGCGC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0302 a0003c0004t0001g0302	1	128	0.0078	849	c.184 others(868): Show c.1844-1227_1844-1226insCGGGCAGATCACGAGGTCAGGAGATC AAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAACACAA AAAATTAGCCGGGCGTGGTCGAGGGCGCCTGTGGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAT CTCAAAAAACAAACAAACAAAAAGAAATACAAGGCCACACAGTTAATTTC TTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGTGTCTCGCTTTGTCACTC AGGCTGGAGTGTAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCCCCT GGGTTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGAATTACAG GCGCCTGCCACCATGCCTGGCTAATTTTTGTATCGTTAGTAGAGACGGGG TTTCACTATGTTGGCCAGGACGGTCTTGATCTCTTGACCTCGTGATTCGC CTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCC CGGCCCACAACAGTTAATTTCTATCCCCAGCCAGTGAAAACATAAAAATA TGGCCAGGAAGCCTGGAAGAAGGGGAGAAAAAGAGGCCGGGTGTGATGGC TCATGCCTGTAATCCCAGCACTTTGGAGGGCTGAGGTGGGAGGATGGCTT GAGCCCAGGAGTTTTGAGATCAGCCTGGGCAACACAGCAAGACCTCGTCT CTATGAAAATAAAAAAAACTGGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGG	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
TJP3_chr19_3703384_3755813	3742670	T T	TGGTGGCT others(842): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAG ATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCC GTCTCTACTAAAAACACAAAAAATTAGCCGGGCGTGGTCGAGGGCGCCTG TGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGG TGACAGAGTGAGACTCCATCTCAAAAAACAAACAAACAAAAAGAAATACA AGGCCACACAGTTAATTTCTTTCTTTCTTTCTTTTTTTTTTTTTGAGACA GTGTCTCGCTTTGTCACTCAGGCTGGAGTGTAGTGGTGTGATCTCGGCTC ACTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTCGTGCCTCAGCCTCC CGAGTAGCTGGAATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTGT ATTGTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGACGGTCTTGATC TCTTGACCTCGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGTGTGAGCCACCGCGCCCGGCCCACAACAGTTAATTTCTATCCCCAGC CAGTGAAAACATAAAAATATGGCCAGGAAGCCTGGAAGAAGGGGAGAAAA AGAGGCCGGGTGTGATGGCTCATGCCTGTAATCCCAGCACTTTGGAGGGC TGAGGTGGGAGGATGGCTTGAGCCCAGGAGTTTTGAGATCAGCCTGGGCA ACACAGCAAGACCTCGTCTCTATGAAAATAAAAAAAACTGGGCCGGGCGC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG00738.hp1 others(52): Show HG00280.hp2 HG00642.hp1 HG00738.hp1 HG01070.hp1 HG01081.hp1 HG01099.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02056.hp2 HG02165.hp2 HG02602.hp1 HG02602.hp2 HG03239.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18948.hp1 NA18964.hp1 NA18969.hp1 NA18973.hp2 NA18983.hp2 NA18997.hp2 NA18998.hp1 NA19011.hp2 NA19070.hp2 NA19074.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0006 a0010 a0024	a0001c0011 a0003c0003 a0003c0004 others(7): Show a0001c0011 a0003c0003 a0003c0004 a0003c0026 a0003c0034 a0003c0035 a0004c0023 a0006c0013 a0010c0025 a0024c0033	a0001c0011t0001 a0001c0011t0004 a0003c0003t0001 others(9): Show a0001c0011t0001 a0001c0011t0004 a0003c0003t0001 a0003c0004t0001 a0003c0004t0004 a0003c0026t0001 a0003c0034t0001 a0003c0035t0001 a0004c0023t0002 a0006c0013t0001 a0010c0025t0001 a0024c0033t0001	a0001c0011t0001g0182 a0001c0011t0001g0281 a0001c0011t0001g0308 others(52): Show a0001c0011t0001g0182 a0001c0011t0001g0281 a0001c0011t0001g0308 a0001c0011t0001g0371 a0001c0011t0001g0394 a0001c0011t0004g0053 a0001c0011t0004g0054 a0003c0003t0001g0253 a0003c0004t0001g0088 a0003c0004t0001g0144 a0003c0004t0001g0146 a0003c0004t0001g0161 a0003c0004t0001g0163 a0003c0004t0001g0191 a0003c0004t0001g0198 a0003c0004t0001g0203 a0003c0004t0001g0208 a0003c0004t0001g0240 a0003c0004t0001g0242 a0003c0004t0001g0255 a0003c0004t0001g0266 a0003c0004t0001g0292 a0003c0004t0001g0312 a0003c0004t0001g0313 a0003c0004t0001g0316 a0003c0004t0001g0323 a0003c0004t0001g0330 a0003c0004t0001g0362 a0003c0004t0001g0367 a0003c0004t0001g0368 a0003c0004t0001g0384 a0003c0004t0001g0390 a0003c0004t0001g0391 a0003c0004t0001g0392 a0003c0004t0001g0393 a0003c0004t0004g0020 a0003c0004t0004g0021 a0003c0004t0004g0022 a0003c0004t0004g0024 a0003c0004t0004g0041 a0003c0004t0004g0045 a0003c0004t0004g0061 a0003c0026t0001g0269 a0003c0026t0001g0307 a0003c0034t0001g0284 a0003c0035t0001g0349 a0004c0023t0002g0314 a0004c0023t0002g0320 a0006c0013t0001g0192 a0006c0013t0001g0256 a0006c0013t0001g0258 a0006c0013t0001g0345 a0010c0025t0001g0168 a0010c0025t0001g0304 a0024c0033t0001g0303	55	182	0.3022	849	c.184 others(868): Show c.1844-1227_1844-1226insCGGGCAGATCACGAGGTCAGGAGATC AAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAACACAA AAAATTAGCCGGGCGTGGTCGAGGGCGCCTGTGGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAT CTCAAAAAACAAACAAACAAAAAGAAATACAAGGCCACACAGTTAATTTC TTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGTGTCTCGCTTTGTCACTC AGGCTGGAGTGTAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCCCCT GGGTTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGAATTACAG GCGCCTGCCACCATGCCTGGCTAATTTTTGTATTGTTAGTAGAGACGGGG TTTCACTATGTTGGCCAGGACGGTCTTGATCTCTTGACCTCGTGATTCGC CTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCC CGGCCCACAACAGTTAATTTCTATCCCCAGCCAGTGAAAACATAAAAATA TGGCCAGGAAGCCTGGAAGAAGGGGAGAAAAAGAGGCCGGGTGTGATGGC TCATGCCTGTAATCCCAGCACTTTGGAGGGCTGAGGTGGGAGGATGGCTT GAGCCCAGGAGTTTTGAGATCAGCCTGGGCAACACAGCAAGACCTCGTCT CTATGAAAATAAAAAAAACTGGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGG	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr19	TogoVar

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