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
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(769): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCG GCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGC TACCCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	394	0.0025	776	c.-8+ others(789): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGGTAGCGGG TGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAG CGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGG TAGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGC CGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAG AGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
NKAIN2_chr6_123798865_124830640	124687570	T T	TTCCATAT others(769): Show TTCCATATATATACATACATGGTATATATTCCATATATATACATACATGG TATATATTCCATATATATACATACATGGTATATATTCCATATATATACAT ACATGGTATATATTCCATATATACATACATGGTATATATTCCTATATATA CATACATGGTATATATTCCATATATATACATACATGGTATATATTCCATA TATATATATACATACATGGTATATATACATACATGGTATATATTCCTATA TATACATACATGGTATATATTCCATATATATATACATACATGGTATATAT TCCATATATATACATACATGGAATATATATATTCCATATATACATATATA TATTCCATATATACACATATATATATTCCATATATACACATATACATGGA ATATATATCTGTATATATATGGAATATATATATATGTATATATATGGAAT ATATATGTATATGTATTTATATTATGTATTTATATTATAAATATATATTA TGTATATATATTTATATTATAAATATATATTATGTATATATATTTATATT ATAAATATATATTATGTATATATATTTATATTATAAATATATATTATGTA TATATATTTATATTATAAATATATATTATGTATATATATTTATATTATAA ATATATATTATGTATATATATTTATATTATAAATATATATTATGTATATA TATTTATATTATAAATATATATTATGTATATATATTTATATTATAAATAT ATATTATGTATATATATTTATATTATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	66	0.0152	776	c.474 others(795): Show c.474+29184_474+29185insTCCATATATATACATACATGGTATAT ATTCCATATATATACATACATGGTATATATTCCATATATATACATACATG GTATATATTCCATATATATACATACATGGTATATATTCCATATATACATA CATGGTATATATTCCTATATATACATACATGGTATATATTCCATATATAT ACATACATGGTATATATTCCATATATATATATACATACATGGTATATATA CATACATGGTATATATTCCTATATATACATACATGGTATATATTCCATAT ATATATACATACATGGTATATATTCCATATATATACATACATGGAATATA TATATTCCATATATACATATATATATTCCATATATACACATATATATATT CCATATATACACATATACATGGAATATATATCTGTATATATATGGAATAT ATATATATGTATATATATGGAATATATATGTATATGTATTTATATTATGT ATTTATATTATAAATATATATTATGTATATATATTTATATTATAAATATA TATTATGTATATATATTTATATTATAAATATATATTATGTATATATATTT ATATTATAAATATATATTATGTATATATATTTATATTATAAATATATATT ATGTATATATATTTATATTATAAATATATATTATGTATATATATTTATAT TATAAATATATATTATGTATATATATTTATATTATAAATATATATTATGT ATATATATTTATATTATAAATATATATTATGTATATATATTTATATTATA	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6			chr6	TogoVar
NOTCH1_chr9_136489433_136551048	136535579	G G	GCACTCAG others(769): Show GCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTCGGGGGGA GCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGG AGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTCGGGGGG AGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGAGGG GAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGAGG GGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCATGGTGGGTGGGGGG GAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGG GGGATCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAG GGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGA GGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTG GGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGG GTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAAT GGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAA TGGGTGCATGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTGGAGGGGGGAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0114 a0001c0001t0004g0114	1	324	0.0031	776	c.140 others(793): Show c.140+8444_140+8445insATCCCCCCTCCACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCATGCACCCAT TGCCCCAGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCA TTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCCCACCCACCCT GCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACC CTGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCCC ACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCT CCACCCACCCTGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCC TCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGATCCCC CCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCC CCCCCACCCACCATGCACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCC CTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCC CCTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTC CCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTC CCCTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCT CCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NXN_chr17_794310_984776	952622	T T	TGGGGGGG others(769): Show TGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCAC GGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAA CCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGGGTCAGAG AGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGG GGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGG TCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCA GGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAG GTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGG TCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTG TGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCA CGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGA ACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGA CAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGG GGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGAC GGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCG GCAGGTACCACGGACGGTCACACTGTG	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18970.hp2 NA19000.hp2 HG02015.hp1 NA18970.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0107 a0001c0001t0004g0224 a0001c0001t0006g0123 a0001c0001t0001g0107 a0001c0001t0004g0224 a0001c0001t0006g0123	3	242	0.0124	776	c.360 others(795): Show c.360+26696_360+26697insCACAGTGTGACCGTCCGTGGTACCTG CCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGAC CGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCC CCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCT GTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGG TTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCC GTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTG ACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAA CCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTAC CTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTG ACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGC CCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTC TCTCTGACCCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGG GTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PAK2_chr3_196734857_196837647	196811271	T T	TTCCTTCC others(769): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTAC CCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCCTACC CTCCCTTCCCTCCCTTCCTTCCTTCCTCCTTCCTTCCTTCCTTCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCC TTCCTTCCCTCCCTCCTTCCCTTCCCTTCCTTCCTTCCTTCTTCCCTCCC TTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCC TTCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTC CCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTT CCTTCCCTCCCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT CCTTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCTTCC CTTCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCC TCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCCTCCCTTCCTTCC TCCCTTCCTTCCCTTCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0116 a0001c0001t0025g0116	1	178	0.0056	776	c.773 others(791): Show c.773+621_773+622insTTCCTTCCTTCCTTCCTTCCTTCCCTCCCT TCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCTCCCTT CCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCTTCCTCCTTCCT TCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCC TCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCT CCCTCCCTTCCCTCCCTTCCTTCCCTCCCTCCTTCCCTTCCCTTCCTTCC TTCCTTCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCCTCCCTTCCTTCCTTCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCC CTTCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTCCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCC TCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTT CCTTCCCTTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCT TCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(769): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	776	c.-26 others(787): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTG TCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTC TATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTA TCGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTC TATCTATAGATAGATACATCTATATGTCTATCTATAGATAGATACATCTA TATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCNT_chr21_46319156_46450769	46383596	C C	CGGAAGCG others(769): Show CGGAAGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTG TTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGC GGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAG TGCTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTG GCAGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCAC CATGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAA TGGCAGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTC ACAGTGTTGTATATTCAGTGGCGGAAGCACATTCACCATGTTGTATATTC AGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCAT TCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGT TCAGTGGCAGAAGCGCATTCACGGTGTGCATTCAGTGGCGGAAGCGCATT CACCATGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATT CAGTGGCAGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAGAAGCGCA TTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATA TTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGTG CATTCACAGTGCTGTGCATTCAGCAGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0043 a0043	a0043c0086 a0043c0086	a0043c0086t0001 a0043c0086t0001	a0043c0086t0001g0068 a0043c0086t0001g0068	1	332	0.0030	776	c.331 others(795): Show c.3312+1843_3312+1844insATATTCAGTGGCGGAAGCGCATTCAC AGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAG CAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAGAAGCGCATTC ACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTC AGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAATGGCAGAAGCGCAT TCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATAT TCAGTGGCGGAAGCACATTCACCATGTTGTATATTCAGTGGCGGAAGCGC ATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGC ATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAGAAGC GCATTCACGGTGTGCATTCAGTGGCGGAAGCGCATTCACCATGTTGTATA TTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCG CATTCACGGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTA TATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGGCGGAAG CGCATTCACAGTGTTGTATATTCAGTGATGGAAGTGCATTCACAGTGCTG TGCATTCAGCAGTGGAAGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGC GCATTCACGGTGTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGT	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(769): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCG GCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0085 a0001c0001t0010g0085	1	376	0.0027	776	c.15 others(787): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGGTAG CGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTA GGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCG GGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC AGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(769): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCT CTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGG CTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCC GGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	376	0.0027	776	c.15 others(787): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAG GGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCGG GGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCA GGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAG CCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(769): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCT CTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGG CTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCC GGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	376	0.0027	776	c.15 others(787): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAG GGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCGG GGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCA GGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAG CCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(769): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCC GGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	376	0.0027	776	c.15 others(787): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAG GGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCGG GGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCA GGGGTAGCGGGTGAGAGCCGGGGGCAGGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAG CCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(769): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCC GGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	376	0.0027	776	c.15 others(787): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAG GGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG GTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCG GGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC AGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAG CCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(769): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCC GGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0035 a0001c0001t0008g0035	1	376	0.0027	776	c.15 others(787): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAG GGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCG GGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC AGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAG CCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(769): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCG GCCCCGGCTCTCACCCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	376	0.0027	776	c.15 others(787): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGGTGAGAGCCGGGGCCGGGGTA GGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCG GGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC AGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAG CCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(769): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCG GCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTAC CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	376	0.0027	776	c.15 others(787): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAG CGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTA GGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCG GGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC AGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAG CCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(769): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCG GCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	376	0.0027	776	c.15 others(787): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAG CGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTA GGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCG GGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC AGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAG CCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(769): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCG GCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGC TACCCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0006 a0006	a0006c0022 a0006c0022	a0006c0022t0002 a0006c0022t0002	a0006c0022t0002g0075 a0006c0022t0002g0075	1	376	0.0027	776	c.15 others(787): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGGTAGCGGGTG AGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAG CGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTA GGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCG GGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC AGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAG CCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(769): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTGCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTGCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTGCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	250	0.0040	776	c.309 others(795): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTGCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTGCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(769): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTGCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02723.hp2 HG03453.hp1 HG02109.hp2 HG02723.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0134	3	250	0.0120	776	c.309 others(795): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCT GCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGC CTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTGCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PRDM16_chr1_3064203_3443621	3181677	C C	CGCAGTCT others(769): Show CGCAGTCTTACACACGGTCTTACACACGGTCTTACACACGCAGTCTTACA CACGGTCTTACACACGGAGTCTTACACACAGTCTTACACATGCAGTCTTA CACATGCAGTCTTACACACGGTCTTACACACGCAGTCTTACACGCGGTCT TACACACGCAGTCTTACACGCGGTCTTACGGTCTTACACACGCAGTCTTA TGGTCTTACACACGGTCTTACACACGCAGTCTTACACACGGTCTTAAACA CAGTCTTACACACGCAGTCTTACACACGGCCTTACGCATGGTCTTACACA CGCAGTCTTACACACGGTCTTACACACGCAGTCTTACACAAGCAGTCTTA CACACGGTCTTACACACGGTCTTACACACGCAGTCTTACGGTCTTACACA CGGTCTTACACACGCAGTCTTACACACGGTCTTACACAGTCTTACACACG CAGTCTTACACACGGCCTTACGCATGGTCTTACACACGGTCTTACACACG CAGTCTTACACAAGCAGTCTTACACACGCGGTCTTACACAAGCAGTCTTA CACACGGTCTTACACACAGTCTTACACACGGCCTTACGCATGGTCTTACA CACGCAGTCTTACACACGGTCTTACACACGCAGTCTTACACAAGCAGTCT TACACACGGTCTTACACACAGTCTTACACACGGTCTTACACGGTCTTACA CAGTCTTACACATGCAGTCTTACACACGGTCTTACATATGGTCTTACACA TGCAGTCTTACACACGGTCTTACACAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0054 a0001c0017t0054	a0001c0017t0054g0134 a0001c0017t0054g0134	1	210	0.0048	776	c.38- others(791): Show c.38-4370_38-4369insAGTCTTACACATGCAGTCTTACACATGCAG TCTTACACACGGTCTTACACACGCAGTCTTACACGCGGTCTTACACACGC AGTCTTACACGCGGTCTTACGGTCTTACACACGCAGTCTTATGGTCTTAC ACACGGTCTTACACACGCAGTCTTACACACGGTCTTAAACACAGTCTTAC ACACGCAGTCTTACACACGGCCTTACGCATGGTCTTACACACGCAGTCTT ACACACGGTCTTACACACGCAGTCTTACACAAGCAGTCTTACACACGGTC TTACACACGGTCTTACACACGCAGTCTTACGGTCTTACACACGGTCTTAC ACACGCAGTCTTACACACGGTCTTACACAGTCTTACACACGCAGTCTTAC ACACGGCCTTACGCATGGTCTTACACACGGTCTTACACACGCAGTCTTAC ACAAGCAGTCTTACACACGCGGTCTTACACAAGCAGTCTTACACACGGTC TTACACACAGTCTTACACACGGCCTTACGCATGGTCTTACACACGCAGTC TTACACACGGTCTTACACACGCAGTCTTACACAAGCAGTCTTACACACGG TCTTACACACAGTCTTACACACGGTCTTACACGGTCTTACACAGTCTTAC ACATGCAGTCTTACACACGGTCTTACATATGGTCTTACACATGCAGTCTT ACACACGGTCTTACACATGCAGTCTTACACACGGTCTTACACACGGTCTT ACACACGCAGTCTTACACACGGTCTTACACACGGAGTCTTACACAC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(769): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATATGTAATACACAATATATATTATATAATATGTAATACACAATATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATATGTAATACACAATATATTATATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACACAATATATTATATAATAATATGTAATACATTATACATTATTATA TAAGTATATGTAATACATTATACATTATTATATAAGTATATGTAATATAT ATTATACATTATTATATAAGTATATGTAATATATATTATACATTATTATA TAAGCATATAATATATAATACATAATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0056 a0001c0001t0014g0056	1	220	0.0046	776	c.24+ others(793): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATATGTAATACACAATATATATTATATA ATATGTAATACACAATATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATATGT AATACACAATATATTATATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACATTATACATTATTATATAAGTATATGTAATACATTATACATTATT ATATAAGTATATGTAATATATATTATACATTATTATATAAGTATATGTAA TATATATTATACATTATTATATAAGCATATAATATATAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(769): Show GGAGGGGAAGGCGTGGGGAGGAGGGGGCCACATGGGGAGGAGCGGGCCGC GAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCACGTGGGGAGGAGG GGGCTGTGAGGAGAGGAGCGGGGGGGGCCCCGTGGGGAGGAGGGGAAGGC TTGGGGAGGAGGGGGCCGCGAGGGCCGCGAGGGGAGGAGGGAGCCGCGTG GGGAGGAGGGGGCCGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGA AGGCGTGGGGAGGAGGGGGGGCGCGTGGGGAGGAGGGGGGCCGCGAGGGG AGGAGGGGGCCGCGTGGGGAGGAGGGTGCCGCGTGGGGAGGAGGGTGCGC GTGGGGGAGGAGGGCGCCGTGTGGGGAGGAGGGGCCGGTGGGGAGGAGGG GGGCCGTGAGGAGGAGGGGAGGGGGGGGGGGGGGCCCGTGGGGGGAGGGG AGGGGGGGGGGGCGGGGGGTGGGGGAGGGGGGGGGAGGGGGGGGGGCCCG CGTGGGGAGGAGGGGCCCGCGTGGGGAGGAGGGGGGGGGCGCGTGGGGGA GGAGGGGGCCGCGTGGGGAGGAGGGAGGAGGGGGCCGCGTGGGAGGAGGG GGCCGAGTGGGGAGGAGGGGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGG GGAGGAGGGGGGCCGCGTGGGGAGGAGGGGGCCCGCGAGGGGGAGGAGGG GGCGTGTGGGGAGGAGGGGGCGGGGGGGGGGCGTGTGGGGAGGAGGGGGG CCGGAGGGGGGAGGTGGGGGGCCGCGT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0063 a0001c0007t0002g0063	1	67	0.0149	776	c.159 others(793): Show c.1590+407_1590+408insACGCGGCCCCCCACCTCCCCCCTCCGGC CCCCCTCCTCCCCACACGCCCCCCCCCCGCCCCCTCCTCCCCACACGCCC CCTCCTCCCCCTCGCGGGCCCCCTCCTCCCCACGCGGCCCCCCTCCTCCC CCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCCTCCTCCCCACTCGGCCC CCTCCTCCCACGCGGCCCCCTCCTCCCTCCTCCCCACGCGGCCCCCTCCT CCCCCACGCGCCCCCCCCCTCCTCCCCACGCGGGCCCCTCCTCCCCACGC GGGCCCCCCCCCCTCCCCCCCCCTCCCCCACCCCCCGCCCCCCCCCCCTC CCCTCCCCCCACGGGCCCCCCCCCCCCCCTCCCCTCCTCCTCACGGCCCC CCTCCTCCCCACCGGCCCCTCCTCCCCACACGGCGCCCTCCTCCCCCACG CGCACCCTCCTCCCCACGCGGCACCCTCCTCCCCACGCGGCCCCCTCCTC CCCTCGCGGCCCCCCTCCTCCCCACGCGCCCCCCCTCCTCCCCACGCCTT CCCCTCCTCCCCACGGGGCCCCCTCCTCTCCTCACGGCCCCCTCCTCCCC ACGCGGCTCCCTCCTCCCCTCGCGGCCCTCGCGGCCCCCTCCTCCCCAAG CCTTCCCCTCCTCCCCACGGGGCCCCCCCCGCTCCTCTCCTCACAGCCCC CTCCTCCCCACGTGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCG CGGCCCGCTCCTCCCCATGTGGCCCCCTCCTCCCCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(769): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAA ATACATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTT ATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATAT ATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	308	0.0033	776	c.-75 others(795): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTA TAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATATGTA TTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAATA TGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTA AATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATA TATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATA TATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATATATA AATATATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATA TATAAATATATATTTATAAACTAAATATATAAATATATGTTTATAAACTA AATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAA ACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTT ATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(769): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAC ATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATAC ATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAA ATACATATTTATATATTTAGTTTATAAATATATATTTATATATTTAATTT ATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATAT ATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	308	0.0033	776	c.-75 others(795): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTA TAAATTAAATATATAAATATATATTTATAAACTAAATATATAAATATGTA TTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAATA TGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTA AATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATA TGTATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATA TGTATTTATAAACTAAATATATAAATATATATTTATAAACTAAATATATA AATATATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATA TATAAATATATATTTATAAACTAAATATATAAATATATATTTATAAACTA AATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAA ACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTT ATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(769): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAA ATACATATTTATATATTTAGTTTATAAATATATATTTATATATTTAATTT ATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATAT ATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02056.hp2 HG02622.hp1 others(5): Show HG00733.hp2 HG02056.hp2 HG02622.hp1 NA18961.hp2 NA18963.hp1 NA19000.hp2 NA19085.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0044 a0001c0001t0004g0049 a0001c0001t0004g0050 others(4): Show a0001c0001t0004g0044 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0009g0003 a0001c0001t0009g0051 a0001c0001t0009g0052 a0001c0001t0009g0053	8	308	0.0260	776	c.-75 others(795): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTA TAAATTAAATATATAAATATATATTTATAAACTAAATATATAAATATGTA TTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAATA TGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTA AATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATA TATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATA TATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATATATA AATATATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATA TATAAATATATATTTATAAACTAAATATATAAATATATATTTATAAACTA AATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAA ACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTT ATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SART1_chr11_65956734_65985137	65971177	A A	AGCTGCTG others(769): Show AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTG GGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGG GATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGAGGAGGGGGATGGTGGGATTCATG	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0003 a0005c0010t0003	a0005c0010t0003g0242 a0005c0010t0003g0242	1	384	0.0026	776	c.157 others(795): Show c.1572+3356_1572+3357insGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGG AGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTC ATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGG GGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGGATGGTGGGATTCATG AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGG ATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGG AGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19			chr11	TogoVar
SART1_chr11_65956734_65985137	65971239	A A	AGCTGCTG others(769): Show AGCTGCTGAGGAGGGGGATGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGG GATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGA GGAGGGGGATGGTGGGATTCATGAGCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03209.hp2 NA18906.hp1 HG02647.hp1 HG03209.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0207 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0207 a0001c0002t0002g0240 a0001c0002t0002g0241	3	384	0.0078	776	c.157 others(795): Show c.1572+3422_1572+3423insCTGAGGAGGGGGATGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTG GGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGG GATGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG AGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTC ATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGG GGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGA GCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCARA5_chr8_27864883_27997673	27918978	A A	AGGAGGAG others(769): Show AGGAGGAGGAGAAGGAGGAGGAGAAAGAGGAGGAGGAGGAAGAGGAGGAA GAGGAGAAAGAGGAGGAAAAGAAGGAGGAGGAGGAAGAGAAAAGGAGGAG GAGGGGAAGGAGGAGGAAAAGGAGGAGGAGGGGGAAGGAGGAGGAGAAGA AAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGAGAAA AGGAGGAGGAGAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACAGGAGG AGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGAAGGAG AAGGAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAGGAGGA GGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGG AGGAGGAGGAGAAGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAG AAGGAAGAAGAGGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGA GGAGAAAGAGGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAG AGGAGAGGGAAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAG AAAAAGAGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAG GAGAAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAG GAGGAATGGGAGGAGGAGGAGAGAATAGAGGAGGAGGGAATAGAGGAGGA GGAGAGAAGGGAGGAGGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0093 a0001c0001t0021g0093	1	314	0.0032	776	c.916 others(793): Show c.916+2592_916+2593insCTTCTCTTCTCCTCCTCCCTTCTCTCCT CCTCCTCTATTCCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCC TCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCC TCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTC TCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTC TTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCTTTCTCCT CTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTC TCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTC CTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCT CCTCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTCCTTC TCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTC CTCCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTCTCCTCCTCCTT TTCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTT CTTCTCCTCCTCCTTCCCCCTCCTCCTCCTTTTCCTCCTCCTTCCCCTCC TCCTCCTTTTCTCTTCCTCCTCCTCCTTCTTTTCCTCCTCTTTCTCCTCT TCCTCCTCTTCCTCCTCCTCCTCTTTCTCCTCCTCCTTCTCCTCCTCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(769): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGACAGCGG GGTGGGAGAACGGGGTGGGAGAGCGGGGGTGGGAGAGCAGGGTGGGAGGG GTGGGAGAACGGGGTGGGGGTGGGAGGGGGGTGGGAGAACGGGGTGGGAG CGAGGTGGGAGAACGGGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTG AGAGCGGGGTGGGAGAACGGGGAGAGAGAGGGGTGGGGGAATGGGGTGGG AGCGGGGTGGGGGAACGGGGAGAGAGCGGGGGTCGGGGAACGGGGTGAGA GCGGGGTGGGGGAACGGGGAGGGAGCGGGGTGGGGGAACGGGGAGAGAGC GGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGG GGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGG TGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTG GGGGAACGGGGTGGGAGCGGGGGTGGGGGAACGGGGTGGGAGCGGGGTGG GGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGG GAACGGGGTGGGAGCGGGGTGGGGGAACGGGGGTGGGAGCGGGGTGGGGG AACGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0096 a0001c0002t0015g0096	1	364	0.0028	776	c.157 others(795): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGT TCCCCCACCCCGCTCCCACCCCCGTTCCCCCACCCCGCTCCCACCCCGTT CCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCC CCCACCCCGCTCCCACCCCGTTCCCCCACCCCCGCTCCCACCCCGTTCCC CCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCC ACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCAC CCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCC CGCTCTCTCCCCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCG CTCTCACCCCGTTCCCCGACCCCCGCTCTCTCCCCGTTCCCCCACCCCGC TCCCACCCCATTCCCCCACCCCTCTCTCTCCCCGTTCTCCCACCCCGCTC TCACCCCCACCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTC GCTCCCACCCCGTTCTCCCACCCCCCTCCCACCCCCACCCCGTTCTCCCA CCCCTCCCACCCTGCTCTCCCACCCCCGCTCTCCCACCCCGTTCTCCCAC CCCGCTGTCCCACCCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCCCAC CCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTC CCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TCF3_chr19_1604292_1657615	1628737	G G	GGGGATGA others(769): Show GGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAG GGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC GCAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCACAGGGGATGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAG CTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGG GAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGC TCACGGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGG GAAGGGGACAGCAGAACTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCATGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTG GGAAGGGGACAGCAGAACTCACGGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCGCAGGGGTGAG GCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGAAAGGGGACAGCA GAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGA GGTGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACA GCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTG AGGTGGGAAGGGGACAGCAGAGCTCAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0029 a0002c0001t0029	a0002c0001t0029g0159 a0002c0001t0029g0159	1	352	0.0028	776	c.299 others(793): Show c.299-1312_299-1311insGTGAGCTCTGCTGTCCCCTTCCCACCTC ACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCT GTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCACCT CACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCT GCTGTCCCCTTTCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCC TCACCCCTGCGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCT CTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGTTCTGCTGTCCCCTTCCC ACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCATGAGC TCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGTTCTGCTGTCCCCTTCC CACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCTGCCCCACCCCCGTGAG CTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCC CACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGC TCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCC GCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTTCCGCCTCACCCCCTGCG AGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCC TTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TMEM120B_chr12_121707752_121787068	121747510	G G	GTCTGGGG others(769): Show GTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGG GAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACT GGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAG GCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCT GGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGA AGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGG CTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTA GAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTA GAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGA GGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGG GAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGG GGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGC GGGAGGCTGGGGTAGAAGGTGGGAGGC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0093 a0002c0002t0093	a0002c0002t0093g0212 a0002c0002t0093g0212	1	314	0.0032	776	c.189 others(791): Show c.189-816_189-815insTCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747531	G G	GCACTGGG others(769): Show GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0090 a0002c0002t0004g0090	1	314	0.0032	776	c.189 others(791): Show c.189-794_189-793insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129828754	G G	GGGAGGAA others(769): Show GGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGA GGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAGGGAGGGAGG GAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGA GGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGA GGAAAGGAGGGAGGGAGGGAGGAAAGGAGGAAGGGAGGGAGGGAGGAAAG GAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGA GGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAG GAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGG GAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGA GGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGG AAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGAAGGGAGGGAGGGAGGGA GGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGG AAAGGAGGGAGGGAGGGAGGAAGAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0044 a0001c0001t0021g0044	1	94	0.0106	776	c.79+ others(793): Show c.79+74506_79+74507insTTTTCTTCCTCCCTCCCTCCCTCCTTTC CTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCT CCCTCCCTCCCTCCCTTCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTC CTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCT CCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCC CTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCT CCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCC TTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCT CCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCC TTTCCTCCCTCCCTCCCTTCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCT CCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCT CCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCC CTCCCTCCCTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCT CCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC TTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TNS1_chr2_217794791_218007995	217805612	C C	CACCACAC others(769): Show CACCACACACACACCACCACACACACCACCACACACACCACACACACAAC ACCACACACCACACACACACCACCACACACCACCACACACCACACACACC ACCACACACACACCACCACACACACACCACACACCACACACACATACACC ACCACACACCACCACACACACCACACACACAACACACACCACCACACACC ACACACACCACCACACACACCACCACACACACACCACACACCATACACAC ACTACCACACACCACCACACACCACCACACACACACCACACACACAGCAC CACACACACACCACCACACACAACACACACCACACACACCACCACACACA TACCACCACACACACCACCACACACATACACACCACACCACCACCACATA CATACACACCACACACCACCACACACATACACACCACACACCACCACACA CATACACACCACACACACTACCACCGCATACATACACACCACACACGCCA CCACATACATACCACACACACATACACACCACCCACACACCACCACACAC ACCACCACCACACACATACACACCACACACACCACCACACACACACCACC ACATACATACACACCACACACATACCACCACACACACACCATCACGCACA CCACCACATACACACACCACAGACATACCACCACACACATACCATCACAC ACCACTACGCACACACACCACACACCACACACACCACACACATACACACC ATCACACCCACACACATCACACACACA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01261.hp1 HG02602.hp1 others(6): Show HG00280.hp2 HG01261.hp1 HG02602.hp1 HG02602.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp1 HG03225.hp1 HG04228.hp2	a0001 a0006 a0009 others(2): Show a0001 a0006 a0009 a0015 a0029	a0001c0055 a0006c0028 a0006c0101 others(4): Show a0001c0055 a0006c0028 a0006c0101 a0009c0077 a0009c0105 a0015c0040 a0029c0062	a0001c0055t0097 a0006c0028t0033 a0006c0028t0092 others(6): Show a0001c0055t0097 a0006c0028t0033 a0006c0028t0092 a0006c0101t0045 a0009c0077t0032 a0009c0105t0032 a0015c0040t0087 a0015c0040t0095 a0029c0062t0117	a0001c0055t0097g0197 a0006c0028t0033g0214 a0006c0028t0092g0072 others(6): Show a0001c0055t0097g0197 a0006c0028t0033g0214 a0006c0028t0092g0072 a0006c0101t0045g0224 a0009c0077t0032g0227 a0009c0105t0032g0184 a0015c0040t0087g0030 a0015c0040t0095g0104 a0029c0062t0117g0234	9	244	0.0369	776	c.537 others(795): Show c.5376-1010_5376-1009insTGTGTGTGTGATGTGTGTGGGTGTGA TGGTGTGTATGTGTGTGGTGTGTGTGGTGTGTGGTGTGTGTGCGTAGTGG TGTGTGATGGTATGTGTGTGGTGGTATGTCTGTGGTGTGTGTATGTGGTG GTGTGCGTGATGGTGTGTGTGTGGTGGTATGTGTGTGGTGTGTATGTATG TGGTGGTGTGTGTGTGGTGGTGTGTGTGGTGTGTATGTGTGTGGTGGTGG TGTGTGTGGTGGTGTGTGGGTGGTGTGTATGTGTGTGTGGTATGTATGTG GTGGCGTGTGTGGTGTGTATGTATGCGGTGGTAGTGTGTGTGGTGTGTAT GTGTGTGGTGGTGTGTGGTGTGTATGTGTGTGGTGGTGTGTGGTGTGTAT GTATGTGGTGGTGGTGTGGTGTGTATGTGTGTGGTGGTGTGTGTGGTGGT ATGTGTGTGGTGGTGTGTGTGGTGTGTGTTGTGTGTGGTGGTGTGTGTGT GGTGCTGTGTGTGTGGTGTGTGTGTGGTGGTGTGTGGTGGTGTGTGGTAG TGTGTGTATGGTGTGTGGTGTGTGTGTGGTGGTGTGTGTGGTGGTGTGTG TGGTGTGTGGTGGTGTGTGTTGTGTGTGTGGTGTGTGTGGTGGTGTGTGG TGGTGTATGTGTGTGTGGTGTGTGGTGTGTGTGTGGTGGTGTGTGTGTGG TGGTGTGTGTGGTGTGTGGTGGTGTGTGGTGGTGTGTGTGTGGTGTGTGG TGTTGTGTGTGTGGTGTGTGTGGTGGTGTGTGTGGTGGTGTGTGTGTGGT	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	32/32			chr2	TogoVar
TRIML1_chr4_188134441_188152743	188152612	A A	AGTGAGGT others(769): Show AGTGAGGTGGGGGTGAGAAGGGGAGTGAGGGAGTGGGGGTGAGAAGGGGA GTGAGAGTGGGGGTGAGAAGGGGTGTGAGAGAGGGGGTGAGAAGGGGAGT GAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGA GAGTGGGGGTTGAGAAGGCGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAG AGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGATGGGGAGTGAGA GTGGGGGTGAGAGGGGGGTGGTGAGAGGGTGGAGAAGGGGAGTGAGAGAG GGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGGGTGTGGG GGTGAGAAGGGGGTGGAGTGTGGGGGTGGAGGGGTGGAGTGGGGGTGAGA AGGGGAGTGAGTGGGGGTGTGAGGGGGGTGTGTGTGGGGGTTGGGGGTGA GAAGGGGGTGTGTGAGGGGTTGAGTGGGGGTGTGAGGAGGGGTTGAGAGG GGATTGAGAGTGGGGGTGTGAAGGGAAGTGAGAGTGGGGGTGAGAAGGGG AGGTGAGAGGGTGGGTGAGAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAG TGAGAGTGGGGGTGTGAAGGGGTGTGAGAGTGGGGTGAGAAGGGGAGTGA GAGTGGTGGGGGTGAGAAGGGGGAGTGAGAGAGGGGGTTGAGAGGGGAGT GAGAGTGAGGGTGAGAAGGGGAGTGAGGGAGTGGGGGTGAGGAGCAGAGT GAGAGTGGGGTGGTGGGGGTGAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	228	0.0044	776	c.52 others(787): Show c.5240_*5241insGTGAGGTGGGGGTGAGAAGGGGAGTGAGGGAGTG GGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGTGTGAGAGAGGG GGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGG TGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGCGAGTGAGAGAGAGGGT GAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGTG AGATGGGGAGTGAGAGTGGGGGTGAGAGGGGGGTGGTGAGAGGGTGGAGA AGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAG GGGAGTGGGTGTGGGGGTGAGAAGGGGGTGGAGTGTGGGGGTGGAGGGGT GGAGTGGGGGTGAGAAGGGGAGTGAGTGGGGGTGTGAGGGGGGTGTGTGT GGGGGTTGGGGGTGAGAAGGGGGTGTGTGAGGGGTTGAGTGGGGGTGTGA GGAGGGGTTGAGAGGGGATTGAGAGTGGGGGTGTGAAGGGAAGTGAGAGT GGGGGTGAGAAGGGGAGGTGAGAGGGTGGGTGAGAGGGGAGTGAGAGTGG GGGTGAGAAGGGGAGTGAGAGTGGGGGTGTGAAGGGGTGTGAGAGTGGGG TGAGAAGGGGAGTGAGAGTGGTGGGGGTGAGAAGGGGGAGTGAGAGAGGG GGTTGAGAGGGGAGTGAGAGTGAGGGTGAGAAGGGGAGTGAGGGAGTGGG GGTGAGGAGCAGAGTGAGAGTGGGGTGGTGGGGGTGAGGGGT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4870		chr4	TogoVar
TRPM7_chr15_50552158_50691797	50679475	T T	TATATATA others(769): Show TATATATATATATTATATATATGTGTATATATATAATATATATATATATT ATATATATGTGTATATATATAATATATATATATATTATATATATGTGTAT ATATATAATATATATATATATTATATATATGTGTATATATATAATATATA TATATATTATATATATGTGTATATATATAATATATATATATATTATATAT ATGTGTATATATATAATATATATATATATTATATATATGTGTATATATAT AATATATATATATATTATATATATGTGTATATATATAATATATATATATA TTATATATATGTGTATATATATAATATATATATATTATATATATGTGTAT ATATATAATATATATATATTATATATATGTGTATATATATAATATATATA TATTATATATATGTGTATATATATAATATATATATATATTATATATATGT GTATATATATAATATATATATATTATATATATGTGTATATATATAATATA TATATATATTATATATATGTGTATATATAATATATATATATTATATATAT GTGTATATATATAATATATATATATATTATATATATGTGTATATATATAA TATATATATATATTATATATATGTGTATATATATAATATATATATATTAT ATATATGTGTATATATATAATATATATATATTATATATATGTGTATATAT ATAATATATATATATATATTATATATATGTGTATATATATAATATATATA TATATTATATATATGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0019 a0009c0013t0019	a0009c0013t0019g0011 a0009c0013t0019g0011	1	352	0.0028	776	c.3+7 others(789): Show c.3+7055_3+7056insTATATATATACACATATATATAATATATATAT ATATTATATATATACACATATATATAATATATATATATATATTATATATA TACACATATATATAATATATATATATTATATATATACACATATATATAAT ATATATATATTATATATATACACATATATATAATATATATATATATTATA TATATACACATATATATAATATATATATATATTATATATATACACATATA TATAATATATATATATTATATATACACATATATATAATATATATATATAT TATATATATACACATATATATAATATATATATATTATATATATACACATA TATATAATATATATATATATTATATATATACACATATATATAATATATAT ATATTATATATATACACATATATATAATATATATATATTATATATATACA CATATATATAATATATATATATTATATATATACACATATATATAATATAT ATATATATTATATATATACACATATATATAATATATATATATATTATATA TATACACATATATATAATATATATATATATTATATATATACACATATATA TAATATATATATATATTATATATATACACATATATATAATATATATATAT ATTATATATATACACATATATATAATATATATATATATTATATATATACA CATATATATAATATATATATATATTATATATATACACATATATATAATAT ATATATATATTATATATATACACATATATATAATATATATATAT	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	1/38			chr15	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(769): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATCATATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCACATGA TGATATGATACTATATCATAACATGATGATATGATACTATATCATCATAT AACATGATGATATGATACTATATCATCATATAACATGATGATATGATACT ATATCATCATATAACATGATGATATGATACTATATCATCATATAACATGA TGATATGATACTATATCATCATATAAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0126 a0005c0007t0001g0127 a0005c0007t0001g0126 a0005c0007t0001g0127	2	174	0.0115	776	c.41- others(793): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCACATGATGATATG ATACTATATCATAACATGATGATATGATACTATATCATCATATAACATGA TGATATGATACTATATCATCATATAACATGATGATATGATACTATATCAT CATATAACATGATGATATGATACTATATCATCATATAACATGATGATATG ATACTATATCATCATATAACATGATGATATGATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TWIST2_chr2_238843085_238915534	238870176	C C	CCACACAC others(769): Show CCACACACACCACACACCCCACACCCCACAGACACCACACCCCACACACA CCACACACCCCACACACACCACACCCCATACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACACCACACCCCATACACACCACACACCCCACACA CACCACACACCCCACACACACCACACCCCATACACACCACACACCCCACA CACACCACACACCCCACACACACCACACCCCATACACACCACACCCCACA CACACACCACACACCCCACACACACCACACACCCCACACACACCACACCC CACACACACCACACACCCCACACACACACCCCATACACACCACACACCCC ACACACACCACACACCCCACACACACCACACACCCCACACACACCACACC CCACACACACCACACAAACCACACACCCTACACACCCCACACACACCACA CACCACACACACCCCACACACACCACACCCCACACACACCACACACCCCC CACACACACCACACCCCATACACACCACACCCCACACACACCACACCCCA TACACACCACACACCCCACACACACCACACACCCCACACACACCACACCC CATACACACCACACCCCCCACACACCACACACCCCACACACACCACACCC CATACACACCACACCCCACACACACCACACACCCCACACACACCACACCC CATACACACCACACACCCCACACACCA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0257 a0001c0001t0003g0257	1	338	0.0030	776	c.35 others(795): Show c.35+21452_*35+21453insCACACACCCCACACCCCACAGACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACCCCACACACACCACACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACACCACACCCCATACACACC ACACACCCCACACACACCACACACCCCACACACACCACACCCCATACACA CCACACACCCCACACACACCACACACCCCACACACACCACACCCCATACA CACCACACCCCACACACACACCACACACCCCACACACACCACACACCCCA CACACACCACACCCCACACACACCACACACCCCACACACACACCCCATAC ACACCACACACCCCACACACACCACACACCCCACACACACCACACACCCC ACACACACCACACCCCACACACACCACACAAACCACACACCCTACACACC CCACACACACCACACACCACACACACCCCACACACACCACACCCCACACA CACCACACACCCCCCACACACACCACACCCCATACACACCACACCCCACA CACACCACACCCCATACACACCACACACCCCACACACACCACACACCCCA CACACACCACACCCCATACACACCACACCCCCCACACACCACACACCCCA CACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCA CACACACCACACCCCATACACACCACACACCCCACACACCACACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(769): Show TAATAATATAATATATATTATTATATATAATTATATATAATAATATAATA TATATTATTATATATTATTATATATAATAATATAATATATATTATTATAT ATAATTATATATAATAATATATATTATATTATTATATATAATTATATATA ATAATATAATATATATTATTATATATTATTATATATAATAATATAATATA TATTATTATATATAATTATATATAATAATATAATATATATTATTATATAT AATTATATATAATAATATAATATATATTATTATATATAATTATATATAAT AATATAATATATATTATTATATATAATAATATATAATAATATATATATAT TATTATATATAATTATATATAATAATATAATATATATTATTATATATAAT TATATATAATAATATAAATATATTATTATATATTATTATATATAATAATA TAATATATATTATATATTATTATATATAATAATATAATATATATTATATA TTATTATATATAATAATATAATATATATTATTATATATTATTATATATAA TAATATAATATATATTATTATATATAATAATATAATATATATTATTATAT ATTATTATATATAATAATATAATATATATTATTATATATAATAATATAAT ATATATTATTATATATTATTATATATAATAATATAATATATATTATTATA TATAATAATATAATATATATTATTATATATTATTATATATAATAATATAA TATATATTATTATATATAATAATATAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	238	0.0042	776	c.392 others(793): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAT TATATTATTATATATAATAATATATAATAATATATATTATATTATTATAT ATAATAATATATATTATATTATTATATATAATAATATATAATAATATATA TTATATTATTATATATAATAATATATATTATATTATTATATATAATAATA TATAATAATATATATTATATTATTATATATAATAATATATATTATATTAT TATATATAATAATATATAATAATATATATTATATTATTATATATAATAAT ATATAATATATATTATATTATTATATATAATAATATATAATATATATTAT ATTATTATATATAATAATATATAATAATATATTTATATTATTATATATAA TTATATATAATAATATATATTATATTATTATATATAATTATATATAATAA TATATATATATTATTATATATTATTATATATAATAATATATATTATATTA TTATATATAATTATATATAATAATATATATTATATTATTATATATAATTA TATATAATAATATATATTATATTATTATATATAATTATATATAATAATAT ATATTATATTATTATATATAATAATATATAATAATATATATTATATTATT ATATATAATTATATATAATAATATAATATATATTATTATATATAATTATA TATAATAATATATATTATATTATTATATATAATAATATATAATAATATAT ATTATATTATTATATATAATTATATATAATAATATATATTATATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UBE2E3_chr2_180975605_181068425	181021562	T T	TCCTTCCT others(769): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT TCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCT TCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTC CTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCC CTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCT CCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTC CTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCT TCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCT CCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	338	0.0030	776	c.246 others(795): Show c.246-36120_246-36119insTCCTTCCTTCCTTCCTCCCTCCCTCC CTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTC CTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCT TCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCC CTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCT CCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTC CTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCT TCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCC CTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCT	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(769): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAC ATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATAC ATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAA ATACATATTTATATATTTAGTTTATAAATATATATTTATATATTTAATTT ATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATAT ATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0131 a0001c0001t0004g0131	1	250	0.0040	776	c.82+ others(791): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATT TAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATA TATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATACATATT TATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATACATATT TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATATTTACA TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATT TACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACA TATTTATATATTTAGTTTATAAATATATATTTATATATTTAATTTATAGA TAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATAT TTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAGTTT ATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTA TATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(769): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAA ATACATATTTATATATTTAGTTTATAAATATATATTTATATATTTAATTT ATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATAT ATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02056.hp1 HG02622.hp1 others(2): Show HG00733.hp1 HG02056.hp1 HG02622.hp1 NA19000.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0018 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0018 a0001c0001t0024 a0001c0001t0083	a0001c0001t0003g0107 a0001c0001t0004g0144 a0001c0001t0018g0106 others(2): Show a0001c0001t0003g0107 a0001c0001t0004g0144 a0001c0001t0018g0106 a0001c0001t0024g0143 a0001c0001t0083g0132	5	250	0.0200	776	c.82+ others(791): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATT TAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATA TATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATT TATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATT TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATATTTACA TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATT TACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACA TATTTATATATTTAGTTTATAAATATATATTTATATATTTAATTTATAGA TAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATAT TTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAGTTT ATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTA TATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(769): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	408	0.0025	776	c.53+ others(791): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGA TGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATG TATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VSIG10L_chr19_51326541_51347139	51345973	G G	GCTGAGAT others(769): Show GCTGAGATGATGCCCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAA CCCTCCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAG ATGATGCGCAGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCC CTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGC GCAGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGG CTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAAC CCTGCCTATAGACTGAGATGATGCGCTGAACTCTCCCTATAGGCTGAGAT GATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTGCCT ATAGACTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGC AGAACCCTCCCTATAGGTTGAGATGATGCGCTGAACCCTCCCTATAGACT GAGATGATGCGCTGAACCCTCCCTATAGACTGAGATGATGCGCAGAACCC TCCCTATAGGTTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGA TGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTAT AGGCTGAGATGATGCGCAGAACCCTCCCTATAGGCTGAGATGATGCGCTG AACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGA GATGATGCGCTGAACCCTGCCTATAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0038 a0001c0013t0002g0038	1	452	0.0022	776	c.-38 others(787): Show c.-3850_-3849insTCTATAGGCAGGGTTCAGCGCATCATCTCAGCCT ATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCA TCATCTCAGCCTATAGGGAGGGTTCTGCGCATCATCTCAGCCTATAGGGA GGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTC AGCCTATAGGGAGGGTTCAGCGCATCATCTCAACCTATAGGGAGGGTTCT GCGCATCATCTCAGTCTATAGGGAGGGTTCAGCGCATCATCTCAGTCTAT AGGGAGGGTTCAGCGCATCATCTCAACCTATAGGGAGGGTTCTGCGCATC ATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCAGTCTATAGGCAGG GTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCAG CCTATAGGGAGAGTTCAGCGCATCATCTCAGTCTATAGGCAGGGTTCAGC GCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAG GGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCTGCGCATCAT CTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGT TCAGCGCATCATCTCAGCCTATAGGGAGGGTTCTGCGCATCATCTCAGCC TATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGGAGGGTTCAGCG CATCATCTCAGCCTATAGGGAGGGTTCAGGGCATCATCTCAG	VSIG10L	ENSG00000186806.6	transcript	ENST00000335624.5	protein_coding		3835		chr19	TogoVar
ZNF236_chr18_76817557_76977901	76967266	T T	TATTTGGT others(769): Show TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATG TGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCTGTGAC ATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTG GTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGT GGTGTGATCTGTGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGATCTG TAAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGAC TTGGTTGTTGAAAGTGGTGTGATCTGTGACATTTGTGATTTGGTTGTTGG AGGTGGTGTGATCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGATGTGA TCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGTTATGT GATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTGGTGTT GGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGT GGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATC TGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATT TGTGATTTGGTGTTGGAGGTGGTGGTGTGCTCTGAGATTTGTGATTTGGT GTTGGAGGTGGTGGTGTGATCTGTGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0010 a0010	a0010c0027 a0010c0027	a0010c0027t0012 a0010c0027t0012	a0010c0027t0012g0148 a0010c0027t0012g0148	1	346	0.0029	776	c.542 others(793): Show c.5420-944_5420-943insGTTGTTGGAGGTGATGTGATTCGTGAGA TGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTG GTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGG TGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTG TGAGATTTGTGATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTG ATTTGTTGTTGGAGGTGGTGTGATCTGTGAGATTTCTGATTTGGTTGTTG GAGGTGGTGTGATCTGTAAGATTTCTGATTTGGTTGTTGGAGGTGGTGTG CTCTGAGTTATGTGACTTGGTTGTTGAAAGTGGTGTGATCTGTGACATTT GTGATTTGGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTAGTT GTTGGAGGTGATGTGATCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGT GTGCTCTGAGTTATGTGATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGA TTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATT TGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGG AGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGG TGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGCTCTG AGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTG	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	30/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ADAM12_chr10_126007391_126393477	126251607	T T	TGGATGGA others(770): Show TGGATGGATGGATAGTGATGATGGATTGGATGGATGATGGATGGATGGAT GGATGGATAGGAAGGATGGGTGGATGGGATGGAGAGGATGGATGGGATGG ATAGGATGGATGGATAGGATGGGATGGATGGCTAGGATGGATAGATTGGA TTGGAGGGATGGATGATGGGATGAATGGATTGGACGGATGGATGGGATGG ATACATGAATTGATGGATGATAAGATAGATGGATGAATGGATGGAATGGA TAGGATGGATGGATGGGGATGGATGGATGGATGGATGGATGAATGGATGG ATGGATGGGATGGATAGGATGGATGGATGGGATGGATAGGTATGGATGGA TGGATGATGGGATGGATAGAACGGATGGAGGGAGGGATGGATGGATGGAT GAACGGGATGGATGGATGGATGATCAGGATGGATGGATGGATGGATGGAT GGATGATGGATGGACGGGATGGATAAATGGATGGATTGGGTGGGATGGAT AGATTGGATGATGGATGGGATGGACGATGGATGGGATGAATGGATTAGAT GGATGGGATGGATGGATGGGATGGATGGATGGACAGGATGGATGGGTGGA TGGATGGGATAGATGTGATGGGTGGGATGGACACATGGGATGGATGTGAT GGATGGATGAATGGATGGGATGGACAGGATGGATGGATGGATGGATAGGA TAGATGGGTGGGATGGATGGATGGATGGATGAATGGACAGGATGGATGGG ATGGATGGATGAATGGACGGGATGGATA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0009 a0001c0014t0009	a0001c0014t0009g0095 a0001c0014t0009g0095	1	252	0.0040	777	c.260 others(796): Show c.260+27307_260+27308insTATCCATCCCGTCCATTCATCCATCC ATCCCATCCATCCTGTCCATTCATCCATCCATCCATCCATCCCACCCATC TATCCTATCCATCCATCCATCCATCCTGTCCATCCCATCCATTCATCCAT CCATCACATCCATCCCATGTGTCCATCCCACCCATCACATCTATCCCATC CATCCACCCATCCATCCTGTCCATCCATCCATCCCATCCATCCATCCCAT CCATCTAATCCATTCATCCCATCCATCGTCCATCCCATCCATCATCCAAT CTATCCATCCCACCCAATCCATCCATTTATCCATCCCGTCCATCCATCAT CCATCCATCCATCCATCCATCCATCCTGATCATCCATCCATCCATCCCGT TCATCCATCCATCCATCCCTCCCTCCATCCGTTCTATCCATCCCATCATC CATCCATCCATACCTATCCATCCCATCCATCCATCCTATCCATCCCATCC ATCCATCCATTCATCCATCCATCCATCCATCCATCCCCATCCATCCATCC TATCCATTCCATCCATTCATCCATCTATCTTATCATCCATCAATTCATGT ATCCATCCCATCCATCCGTCCAATCCATTCATCCCATCATCCATCCCTCC AATCCAATCTATCCATCCTAGCCATCCATCCCATCCTATCCATCCATCCT ATCCATCCCATCCATCCTCTCCATCCCATCCACCCATCCTTCCTATCCAT CCATCCATCCATCCATCATCCATCCAATCCATCATCACTATCCATCCATC C	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126251636	T T	TGATGGGA others(770): Show TGATGGGATGGATGGGATGGATAGGAAGGATGGGTGGATGGGATGGAGAG GATGGATGGGATGGATAGGATGGATGGATAGGATGGGATGGATGGCTAGG ATGGATAGATTGGATGGATGGATGGGATGATGGGATGAATGGATTGGACG GATGGATGGGATGGATACATGAATTGATGGGATGATAAGATAGATGGATG AATGGATGGGATGGATAGGATGGATGGATGGGATGGATGGATGGGATGGA TGGGATGGATGGGATGAATGGATGGATGGATGGGATGGATAGGATGGATG GGATGGATGGATAGGATGGATGGATGGGATGATGGGATGGATAGAACGGA TGGAGGGAGGGATGGATGGATGGATGAACGGGATGGATGGATGGATGATC AGGATGGATGGATGGATGGGATGGATGGATGATGGATGGACGGGATGGAT AAATGGATGGATTGGGTGGGATGGATAGATTGGATGGATGGATGGGATGG ACGATGGATGGGATGAATGGATTAGATGGATGGGATGGATGGATGGACAG GATGGATGGGTGGATGGATGGGATAGATGTGATGGGTGGGATGGACACAT GGGATGGATGTGATGGATGGGATGAATGGATGGGATGAATGGATGGGATG GACAGGATGGATGGATGGATGGATAGGATAGATGGGTGGGATGGATGGGA TGGATGGATGAATGGACAGGATGGATGGGATGGATGGATGAATGGACGGG ATGGATAGGATGGATGGATAGATGAATG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp2 HG04199.hp1 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0047 a0002c0006t0001 a0001c0004t0047 a0002c0006t0001	a0001c0004t0047g0152 a0002c0006t0001g0109 a0001c0004t0047g0152 a0002c0006t0001g0109	2	252	0.0079	777	c.260 others(796): Show c.260+27278_260+27279insCATTCATCTATCCATCCATCCTATCC ATCCCGTCCATTCATCCATCCATCCCATCCATCCTGTCCATTCATCCATC CATCCCATCCATCCCACCCATCTATCCTATCCATCCATCCATCCATCCTG TCCATCCCATCCATTCATCCCATCCATTCATCCCATCCATCACATCCATC CCATGTGTCCATCCCACCCATCACATCTATCCCATCCATCCACCCATCCA TCCTGTCCATCCATCCATCCCATCCATCTAATCCATTCATCCCATCCATC GTCCATCCCATCCATCCATCCAATCTATCCATCCCACCCAATCCATCCAT TTATCCATCCCGTCCATCCATCATCCATCCATCCCATCCATCCATCCATC CTGATCATCCATCCATCCATCCCGTTCATCCATCCATCCATCCCTCCCTC CATCCGTTCTATCCATCCCATCATCCCATCCATCCATCCTATCCATCCAT CCCATCCATCCTATCCATCCCATCCATCCATCCATTCATCCCATCCATCC CATCCATCCCATCCATCCATCCCATCCATCCATCCTATCCATCCCATCCA TTCATCCATCTATCTTATCATCCCATCAATTCATGTATCCATCCCATCCA TCCGTCCAATCCATTCATCCCATCATCCCATCCATCCATCCAATCTATCC ATCCTAGCCATCCATCCCATCCTATCCATCCATCCTATCCATCCCATCCA TCCTCTCCATCCCATCCACCCATCCTTCCTATCCATCCCATCCATCCCAT C	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(770): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATTATAT ATTATATATATTATATACATATAATATATATTCTCATATATATTATATAT ACTCATATATATAATATATATTCTCATATATATATATTATATATTCTCAT ATATATAATATATATATTCTCATATATAATATATATTCTCATATATATAA TATATACTCATATATTATATATATTCTCATATATTATATATATACTCATA TATAATGTATATATTCTAATATATAATATATATTTTCTCATTTATATAAT ATATATTCTCATATATAATATATATTCTCATATATGACATATTATATATA TTCTCATATATATTATATATTCTCATATATAATATATATTCTCATATAAT ATATTATATATTCTCATATAATATATTATATATGCTCATATAATATATTA TATATGCTCATATATAATATATTATATATGCTCATATATAATATATTATA TATGCTCATATATAATATATTATATATGCTCATATATAATATATTATATA TGCTCATATATAATATATTATATATGCTCATATAATATATTATATATGCT CATATATAATATATTATGTATGCTCATATATAATATATTATGTATGCTCA TATATAATATATTATGTATGCTCATATATAATATATTATGTATGAGCATA TATAATATATTATGTATGAGCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG02074.hp1 NA18940.hp1 others(15): Show HG00621.hp2 HG02074.hp1 NA18940.hp1 NA18949.hp2 NA18957.hp2 NA18972.hp1 NA18974.hp1 NA18977.hp1 NA18978.hp1 NA18982.hp1 NA18987.hp2 NA18992.hp2 NA19009.hp1 NA19054.hp1 NA19065.hp2 NA19068.hp1 NA19079.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0044 a0001c0001t0053 a0001c0001t0002 a0001c0001t0044 a0001c0001t0053	a0001c0001t0002g0000 a0001c0001t0044g0000 a0001c0001t0053g0000 a0001c0001t0002g0000 a0001c0001t0044g0000 a0001c0001t0053g0000	18	416	0.0433	777	c.10 others(790): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGAGCATACATAATATATTATATATGAG CATACATAATATATTATATATGAGCATACATAATATATTATATATGAGCA TATATAATATATTATATGAGCATATATAATATATTATATATGAGCATATA TAATATATTATATATGAGCATATATAATATATTATATATGAGCATATATA ATATATTATATATGAGCATATATAATATATTATATATGAGCATATATAAT ATATTATATGAGCATATATAATATATTATATGAGAATATATAATATATTA TATGAGAATATATATTATATATGAGAATATATAATATATATGAGAATATA TATAATATGTCATATATGAGAATATATATTATATATGAGAATATATATTA TATAAATGAGAAAATATATATTATATATTAGAATATATACATTATATATG AGTATATATATAATATATGAGAATATATATAATATATGAGTATATATTAT ATATATGAGAATATATATTATATATGAGAATATATATATTATATATATGA GAATATATAATATATATATATGAGAATATATATTATATATATGAGTATAT ATAATATATATGAGAATATATATTATATGTATATAATATATATAATATAT AATATATAATATATAATATATAATATATACATATATACATATAATATATA AACATATAATATATAATATATACATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
ATP2B2_chr3_10319023_10510586	10365830	T T	TATGTGCA others(770): Show TATGTGCACAGTAGGTGGTGTACACGTGTTGTGTGTTTGATGTGTGTGAT ATGCGGTGTATATGTGTTGTGCAGTGTGTGTGATGAGTGGTGTGTATGGT GTATGTTGTATGTGTGTGGTGAGTGTTGTGTTTGTGTGTGATGAGTGGTG TGTGTGGTGTGTGTTGTATGTGCATGACATGTGTGGTCTGTGTGTTGTAT GTGTGGTGAGTGGTATGTGTGATGTGTTTGTGACGTGTATTGTGTGTGGT GAGTGGTGTGTGTATGCTGTGTGTGGAGTGTTGTGTGTGGTGTTTTTTTG TGTGGTAATGTGGTATATGTGTGTTGTGTGTGATGAGTGGTGTATGTATT TTGTGTATGTAGTGTGTGTTGTTATGTGCATGGTAGGTGCTGTATGTGTG TTATGTGTGTGATAAGTGATGTGTGTCATGAGTGGTGTATGTGTGCTGCC ATGTGTTGTATGTGTGGTGTGTGTGATGTGTTGTCTGTTTTGTGAGTGTT GTGTGTGTGTTGTTATACGTGTGCTGTATGTGGTGTGTGTAGTGAGTGGT ATGCGTGGTGTATGTTGTATGTGCATGGTAGGTGGTGTATGTGTGTGGTG TGTTGTATGTGTTATATGTGTGGTAAGTGTTGTGTGTGTGTTGTATGTGT GTGGTAGGTGGTAGGTGGTATATGTGTGTTGTGTGTTTGTGTGATGTGTG TGTTGTGTGTGTGGTAGGTGGTATGTGTGCTGTGTGTTTGCGTGATGTGT GTGGTGAGTGGTGTGTATTGTGTGCTGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02738.hp1 HG03239.hp1 others(1): Show HG00597.hp1 HG02738.hp1 HG03239.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0096 a0001c0001t0001g0146 a0001c0001t0001g0246 others(1): Show a0001c0001t0001g0096 a0001c0001t0001g0146 a0001c0001t0001g0246 a0001c0001t0015g0163	4	290	0.0138	777	c.166 others(796): Show c.1660-5708_1660-5707insCCAGCACACAATACACACCACTCACC ACACACATCACGCAAACACACAGCACACATACCACCTACCACACACACAA CACACACATCACACAAACACACAACACACATATACCACCTACCACCTACC ACACACATACAACACACACACAACACTTACCACACATATAACACATACAA CACACCACACACATACACCACCTACCATGCACATACAACATACACCACGC ATACCACTCACTACACACACCACATACAGCACACGTATAACAACACACAC ACAACACTCACAAAACAGACAACACATCACACACACCACACATACAACAC ATGGCAGCACACATACACCACTCATGACACACATCACTTATCACACACAT AACACACATACAGCACCTACCATGCACATAACAACACACACTACATACAC AAAATACATACACCACTCATCACACACAACACACATATACCACATTACCA CACAAAAAAACACCACACACAACACTCCACACACAGCATACACACACCAC TCACCACACACAATACACGTCACAAACACATCACACATACCACTCACCAC ACATACAACACACAGACCACACATGTCATGCACATACAACACACACCACA CACACCACTCATCACACACAAACACAACACTCACCACACACATACAACAT ACACCATACACACCACTCATCACACACACTGCACAACACATATACACCGC ATATCACACACATCAAACACACAACACGTGTACACCACCTACTGTGCACA T	ATP2B2	ENSG00000157087.20	transcript	ENST00000360273.7	protein_coding	12/22			chr3	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGGCCC others(770): Show TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCC TCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGC CCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCTGGCAGAGCCAGCCCTGTCCAGGCCCCGACGCGTGCAGCCTCCTG GCAGAGCCAGCCCCGTCCGGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0003 a0001c0008t0001g0003	1	391	0.0026	777	c.36 others(788): Show c.3604_*3605insGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCC CCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGC CAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGG CCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCTGTCCAGGCCCCGAC GCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar

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