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
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(282): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18953.hp2 NA19079.hp1 HG02074.hp1 NA18953.hp2 NA19079.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0038 a0001c0003t0001g0165 a0001c0003t0001g0263 a0001c0003t0001g0038 a0001c0003t0001g0165 a0001c0003t0001g0263	3	262	0.0115	289	c.189 others(308): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCA AAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
FOXK2_chr17_82514732_82609602	82586451	G G	GGGGGGGA others(282): Show GGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAG TGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGG GGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0230 a0001c0001t0012g0230	1	264	0.0038	289	c.157 others(306): Show c.1576+257_1576+258insAATGGAGGAGAGGGGAGACCACAGGGAG GTCAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TCAAAGGTAGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTGGGCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTAGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TAGGCGGGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(282): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCC ACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTC CTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCGC CCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCC CCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG04228.hp2 HG03942.hp2 HG04228.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0000 a0009c0014t0001g0000	2	115	0.0174	289	c.33 others(300): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTA CCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCC CCCCACCCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGC CCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCC TCCTCCCGCCTCCCCCCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCC CGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
FRMPD4_chrX_12133473_12729523	12332026	A A	ATATATAT others(282): Show ATATATATTTATATACTATATATAAATTATATATATTTATATACTATATA TAAATTATATATATTTATATACTATATATAAATATATAATTTATATACTA TATATAAATTATATATATTTATATACTATATATAAATTATATATTTATAT ACTATATATAAATTATATATATTTATATACTATATATAAATTATATAATT TATATACTATATATAAATTATATATATTTATATACTATATATAAATTATA TATATTATATATTTATATACTATATATAAATTATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0029 a0002c0003t0004g0029	1	168	0.0060	289	c.42- others(308): Show c.42-166623_42-166622insATATTTATATACTATATATAAATTAT ATATATTTATATACTATATATAAATATATAATTTATATACTATATATAAA TTATATATATTTATATACTATATATAAATTATATATTTATATACTATATA TAAATTATATATATTTATATACTATATATAAATTATATAATTTATATACT ATATATAAATTATATATATTTATATACTATATATAAATTATATATATTAT ATATTTATATACTATATATAAATTATATATATTATATATTTATATACTAT ATATAAATTATAT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(282): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG AGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAG GGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGGGC GGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGG GATGGGCGGGGGGGAGGGGAGGGGGGCGGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	1	19	0.0526	289	c.-20 others(298): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAG GGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGG AGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGG GCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGGGGCGGGGGGGAGG GGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GAL3ST2_chr2_241771822_241809287	241805865	C C	CCCTCCCC others(282): Show CCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCC TCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	308	0.0032	289	c.16 others(300): Show c.1699_*1700insCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCT CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGAC CTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1579		chr2	TogoVar
GALNS_chr16_88808734_88861947	88831643	G G	GAGCGGTG others(282): Show GAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGGAGGAGAGCGGTGAGGCC GAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCG TGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCG GTGAGGCCGAGCACGGGGTGCGTGGGGAGGACAGCGGTGAGGCGGAGCAC GGGGTGCGTGGGGAGGAGAGCGGTGAGGCGGAGCACGGGGTGCGTGGGGA GGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	366	0.0027	289	c.100 others(306): Show c.1002+354_1002+355insGTCCTCCCCACGCACCCCGTGCTCGGCC TCACCGCTCTCCTCCCCACGCACCCCGTGCTCCGCCTCACCGCTCTCCTC CCCACGCACCCCGTGCTCCGCCTCACCGCTGTCCTCCCCACGCACCCCGT GCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCG CTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACG CACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCCACGCACCCCGTGCTCG GCCTCACCGCT	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(282): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGG GAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGG AAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0132 a0001c0001t0005g0132	1	14	0.0714	289	c.229 others(308): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTC CCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCC CCTCCCTCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTT CCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCTCCCTCCCTCCCTC CCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCTCCCTCCCTC CCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GPIHBP1_chr8_143208218_143222170	143218085	C C	CCCCCACA others(282): Show CCCCCACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCC CCAACACCACCCCCAACACCACCCCAACACCACCCAACACCACCCCCAAC ACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCAACACCA CCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCC AACACCACCCCCAACACCATCCCCAACACCACCCCCAACACCACCCCCAA CACCACCCCCAACACCACCCCAACACCACCCCCAACACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0004 a0001c0004t0018g0004	1	94	0.0106	289	c.25 others(300): Show c.2567_*2568insCCCCACACCACCCCCAACACCACCCCCAACACCA CCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCC AACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAA CACCACCCAACACCACCCCAACACCACCCCCAACACCACCCCAACACCAC CCCCAACACCACCCCAACACCACCCCCAACACCATCCCCAACACCACCCC CAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAA CACCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		916		chr8	TogoVar
GPIHBP1_chr8_143208218_143222170	143218221	C C	CAACACCA others(282): Show CAACACCACCCCCACACCACCCCCACACCACCCCCAACACCACCCCCAAC ACCACCCCACACCACCCCCACACCACCCAACACCGCCCCCACACCACCCA CCACCACCCACCACAAGGCCCAACACCACCCCCACACCACCCCCCACACC ACCCCCACACCACCCCCAACACCACCCCCACACCACCCACCACCACCCAC CACAAGGCCCAACACCACCCCAACACCACCCCCACACCACCCCCACACCA CCCCCACACCACCCCCAACACCACCCCAACACCACCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	81	0.0123	289	c.27 others(300): Show c.2703_*2704insAACACCACCCCCACACCACCCCCACACCACCCCC AACACCACCCCCAACACCACCCCACACCACCCCCACACCACCCAACACCG CCCCCACACCACCCACCACCACCCACCACAAGGCCCAACACCACCCCCAC ACCACCCCCCACACCACCCCCACACCACCCCCAACACCACCCCCACACCA CCCACCACCACCCACCACAAGGCCCAACACCACCCCAACACCACCCCCAC ACCACCCCCACACCACCCCCACACCACCCCCAACACCACCCCAACACCAC CCCCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1052		chr8	TogoVar
GRID1_chr10_85594552_86371795	86121548	T T	TATCTCAC others(282): Show TATCTCACCATCATTATCACCATCAGCATCATCATCACCATCATTATCAC CATCATCATAATCATCATCACAATCATCATCATCACCACCATCACCATCA TCACCATCACCATTACCATCATCACCATTATCACCACCATCACCATCATC TTACCATCATTATCACCATCATCATCACCATCACCACCATCATTACCATT ACCATCATCTCACCATCATTATCACCATCATCATCACACTGTCACCAACA TCTCACTATCATTATCACCACCATCATCACCATTACCATC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02257.hp1 HG02280.hp1 others(8): Show HG00639.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03540.hp1 NA18906.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 others(1): Show a0001c0001 a0001c0002 a0002c0007 a0002c0012	a0001c0001t0003 a0001c0001t0010 a0001c0002t0003 others(5): Show a0001c0001t0003 a0001c0001t0010 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0002c0007t0027 a0002c0012t0056	a0001c0001t0003g0055 a0001c0001t0010g0009 a0001c0002t0003g0060 others(8): Show a0001c0001t0003g0055 a0001c0001t0010g0009 a0001c0002t0003g0060 a0001c0002t0003g0071 a0001c0002t0003g0089 a0001c0002t0004g0084 a0001c0002t0005g0090 a0001c0002t0005g0092 a0001c0002t0006g0087 a0002c0007t0027g0054 a0002c0012t0056g0088	11	60	0.1833	289	c.726 others(308): Show c.726+17270_726+17271insGATGGTAATGGTGATGATGGTGGTGA TAATGATAGTGAGATGTTGGTGACAGTGTGATGATGATGGTGATAATGAT GGTGAGATGATGGTAATGGTAATGATGGTGGTGATGGTGATGATGATGGT GATAATGATGGTAAGATGATGGTGATGGTGGTGATAATGGTGATGATGGT AATGGTGATGGTGATGATGGTGATGGTGGTGATGATGATGATTGTGATGA TGATTATGATGATGGTGATAATGATGGTGATGATGATGCTGATGGTGATA ATGATGGTGAGAT	GRID1	ENSG00000182771.19	transcript	ENST00000327946.12	protein_coding	4/15			chr10	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCTC others(282): Show TCCTCCTCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCC CCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCCTCCTCCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCC TCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCC TCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0254 a0001c0003t0001g0254	1	175	0.0057	289	c.427 others(306): Show c.427-1062_427-1061insTCCTCCCCCCTCCTCCTCCCCCCTCCCA CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCC TCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTC CTCCTCCTCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GTF2F2_chr13_45115510_45289893	45265018	T T	TGGGGGGC others(282): Show TGGGGGGCTCCGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0200 a0001c0002t0001g0200	1	208	0.0048	289	c.487 others(306): Show c.487-2212_487-2211insGGGCTCCGGGGGGGGGGGGGGGGTGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGG	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GUCY1A2_chr11_106669019_107023476	106709791	A A	ATTATATA others(282): Show ATTATATACACGTATAGAATATATAGTTATATACACGTATAGAATATATA GTTATATACACGTATAGAATATATAGTTATATATTATATACACGTATAGA ATATATAGTTATATACACGTATAGAATATATAGTTATATACACGTATAGA ATATATAGTTATATATTATATACACGTATAGAATATATAGTTATATACAC GTATAGAATATATAGTTATATACACGTATAGAATATATAGTTATATACAC GTATAGAATATATAGTTATATACACGTATAGAATATATAG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	246	0.0041	289	c.183 others(308): Show c.1837-1126_1837-1125insCTATATATTCTATACGTGTATATAAC TATATATTCTATACGTGTATATAACTATATATTCTATACGTGTATATAAC TATATATTCTATACGTGTATATAACTATATATTCTATACGTGTATATAAT ATATAACTATATATTCTATACGTGTATATAACTATATATTCTATACGTGT ATATAACTATATATTCTATACGTGTATATAATATATAACTATATATTCTA TACGTGTATATAACTATATATTCTATACGTGTATATAACTATATATTCTA TACGTGTATATAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106710005	T T	TTATATAC others(282): Show TTATATACATGTATATAACATATAGTTATATATTATATACATGTATATAA CATATAGTTATGTATATTATATACATGTATATAACATATAGTTATGTATA TTATATACATGTATATAACATATAGTTATGTATATTATATACATGTATAT AACATATAGTTATGTATATTATATACATGTATATAACATATAGTTATGTA TATTATATACATGTATATAACATATAGTTATGTATATTATATACATGTAT ATAACATATAGTTATGTATATTATATACATGTATATAACA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0223 a0001c0004t0003g0223	1	158	0.0063	289	c.183 others(308): Show c.1837-1340_1837-1339insTGTTATATACATGTATATAATATACA TAACTATATGTTATATACATGTATATAATATACATAACTATATGTTATAT ACATGTATATAATATACATAACTATATGTTATATACATGTATATAATATA CATAACTATATGTTATATACATGTATATAATATACATAACTATATGTTAT ATACATGTATATAATATACATAACTATATGTTATATACATGTATATAATA TACATAACTATATGTTATATACATGTATATAATATATAACTATATGTTAT ATACATGTATATA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	107022930	T T	TAAAATCA others(282): Show TAAAATCACAATGTGACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAACAGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG03041.hp1 NA18522.hp1 HG02809.hp1 HG03041.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0009 a0001c0003t0016 a0001c0003t0003 a0001c0003t0009 a0001c0003t0016	a0001c0003t0003g0247 a0001c0003t0009g0237 a0001c0003t0016g0238 a0001c0003t0003g0247 a0001c0003t0009g0237 a0001c0003t0016g0238	3	227	0.0132	289	c.-48 others(300): Show c.-4876_-4875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCTGTTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTCACATTGTG ATTTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding		4455		chr11	TogoVar
HDLBP_chr2_241222291_241320672	241264041	T T	TAAGAAAG others(282): Show TAAGAAAGAACAGCGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	331	0.0030	289	c.234 others(304): Show c.234+406_234+407insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCGCTG TTCTTTCTT	HDLBP	ENSG00000115677.18	transcript	ENST00000310931.10	protein_coding	4/27			chr2	TogoVar
HS6ST1_chr2_128260480_128323868	128298069	T T	TAAGATGA others(282): Show TAAGATGAACATCGTCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCAGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03453.hp1 HG01243.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0012 a0001c0001t0008 a0001c0001t0012	a0001c0001t0008g0024 a0001c0001t0012g0025 a0001c0001t0008g0024 a0001c0001t0012g0025	2	274	0.0073	289	c.527 others(308): Show c.527+19967_527+19968insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGA CGATGTTCATCTT	HS6ST1	ENSG00000136720.7	transcript	ENST00000259241.7	protein_coding	1/1			chr2	TogoVar
HS6ST1_chr2_128260480_128323868	128298069	T T	TAAGATGA others(282): Show TAAGATGAACATCGTCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGTCGTAGTGGCAGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp2 HG02630.hp2 others(4): Show HG00639.hp1 HG01081.hp2 HG02630.hp2 HG02717.hp1 HG03471.hp1 HG03490.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0019 others(1): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0019 a0001c0001t0057	a0001c0001t0003g0007 a0001c0001t0003g0037 a0001c0001t0012g0032 others(2): Show a0001c0001t0003g0007 a0001c0001t0003g0037 a0001c0001t0012g0032 a0001c0001t0019g0006 a0001c0001t0057g0030	7	279	0.0251	289	c.527 others(308): Show c.527+19967_527+19968insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACTACGACCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGA CGATGTTCATCTT	HS6ST1	ENSG00000136720.7	transcript	ENST00000259241.7	protein_coding	1/1			chr2	TogoVar
HTR2C_chrX_114579086_114915061	114761990	C C	CATATATG others(282): Show CATATATGTGTATATATACGTGTATATATACACATATGTGTATATATACG TGTATATATACATATATGTGTATATATACGTGTATATATACATATATGTG TATATATACGTGTATATATACATATATGTGTATATATACGTGTATATATA CATATATGTGTATATATACGTGTATATATACATATATGTGTATATATACG TGTATATATACATATATGTGTATATATACGTGTATATATACATATATGTG TATATATACGTGTATATATACATATGTGTATATATACGTG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	54	0.0185	289	c.349 others(308): Show c.349+30383_349+30384insATATATGTGTATATATACGTGTATAT ATACACATATGTGTATATATACGTGTATATATACATATATGTGTATATAT ACGTGTATATATACATATATGTGTATATATACGTGTATATATACATATAT GTGTATATATACGTGTATATATACATATATGTGTATATATACGTGTATAT ATACATATATGTGTATATATACGTGTATATATACATATATGTGTATATAT ACGTGTATATATACATATATGTGTATATATACGTGTATATATACATATGT GTATATATACGTG	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5			chrX	TogoVar
HTR2C_chrX_114579086_114915061	114761990	C C	CATATATG others(282): Show CATATATGTGTATATATACGTGTATATATACATATATGTGTATATATACG TGTATATATACATATATGTGTATATATACGTGTATATATACATATATGTG TATATATACGTGTATATATACATATATGTGTATATATACGTGTATATATA CATATATGTGTATATATACGTGTATATATACATATATGTGTATATATACG TGTATATATACATATATGTGTATATATACGTGTATATATACATATATGTG TATATATACGTGTATATATACATATGTGTATATATACGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01952.hp1 HG02083.hp1 others(14): Show HG00280.hp1 HG01952.hp1 HG02083.hp1 HG02300.hp2 HG02630.hp1 HG02647.hp1 HG03209.hp1 HG03516.hp1 HG03579.hp1 NA18522.hp1 NA18612.hp1 NA18940.hp1 NA18955.hp1 NA18966.hp1 NA18977.hp1 NA18984.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018	a0001c0001t0001g0077 a0001c0001t0001g0088 a0001c0001t0001g0090 others(14): Show a0001c0001t0001g0077 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0133 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0002g0023 a0001c0001t0003g0084 a0001c0001t0012g0108 a0001c0001t0014g0096 a0001c0001t0018g0138	17	70	0.2429	289	c.349 others(308): Show c.349+30383_349+30384insATATATGTGTATATATACGTGTATAT ATACATATATGTGTATATATACGTGTATATATACATATATGTGTATATAT ACGTGTATATATACATATATGTGTATATATACGTGTATATATACATATAT GTGTATATATACGTGTATATATACATATATGTGTATATATACGTGTATAT ATACATATATGTGTATATATACGTGTATATATACATATATGTGTATATAT ACGTGTATATATACATATATGTGTATATATACGTGTATATATACATATGT GTATATATACGTG	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5			chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33323471	G G	GAATATAT others(282): Show GAATATATATGTGGAATATATATATGTGGAATATATATGTGGAATATATA TATGTGGAATATATATGTGGAATATATATGTGGAATATATATGTGGAATA TATATGTGGAATATATATATATGGAATATATATGTGGAATATATATATAT GGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATAT ATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAAT ATATATGTGGAATATATATATATGGAATATATATGTGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0010 a0003c0003t0004g0010	1	191	0.0052	289	c.-15 others(300): Show c.-1585_-1584insAATATATATGTGGAATATATATATGTGGAATATA TATGTGGAATATATATATGTGGAATATATATGTGGAATATATATGTGGAA TATATATGTGGAATATATATGTGGAATATATATATATGGAATATATATGT GGAATATATATATATGGAATATATATGTGGAATATATATATATGGAATAT ATATGTGGAATATATATATGGAATATATATGTGGAATATATATATATGGA ATATATATGTGGAATATATATGTGGAATATATATATATGGAATATATATG TGGAA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1498		chr21	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540815	T T	TATACATA others(282): Show TATACATATATTATATATCATATATAATATATACATATATTATATATCAT ATATAATATATGTATATATTATATATCATATATAATATATACATATATTA TATATCATATATTATATATGATATATAATATATACATATATTATATATCA TATATAATATATGTATATATTATATATCATATATAATATATACATATATT ATATATCATATATAATATATACATATATTATATATCATATATTATATATG ATATATAATACATACATATATTATATATGATATAAAATAC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0085 a0001c0001t0005g0085	1	51	0.0196	289	c.772 others(308): Show c.772+56445_772+56446insCATATATAATATATACATATATTATA TATCATATATAATATATGTATATATTATATATCATATATAATATATACAT ATATTATATATCATATATTATATATGATATATAATATATACATATATTAT ATATCATATATAATATATGTATATATTATATATCATATATAATATATACA TATATTATATATCATATATAATATATACATATATTATATATCATATATTA TATATGATATATAATACATACATATATTATATATGATATAAAATACATAC ATATATTATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540912	T T	TTATATAT others(282): Show TTATATATCATATATAATATATACATATATTATATATCATATATAATATA TACATATATTATATATCATATATAATATATACATATATTATATATCATAT ATAATATATACATATATTATATATCATATATAATATATGTATATATTATA TATCATATATAATATATACATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATACATATATTATATATCATATATATG ATATATAATACATACATATATATGATATATAATACATACA	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18961.hp1 HG02071.hp1 NA18961.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0110 a0001c0002t0001g0031 a0001c0002t0001g0110	2	110	0.0182	289	c.772 others(308): Show c.772+56532_772+56533insCATATATAATATATACATATATTATA TATCATATATAATATATACATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATACATATATTATATATCATATATAAT ATATGTATATATTATATATCATATATAATATATACATATATTATATATCA TATATAATATATACATATATTATATATCATATATAATATATACATATATT ATATATCATATATATGATATATAATACATACATATATATGATATATAATA CATACATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540912	T T	TTATATAT others(282): Show TTATATATCATATATAATATATACATATATTATATATCATATATAATATA TACATATATTATATATCATATATAATATATACATATATTATATATCATAT ATAATATATACATATATTATATATCATATATAATATATGTATATATTATA TATCATATATAATATATGTATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATACATATATTATATATCATATATATG ATATATAATACATACATATATATGATATATAATACATACA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	109	0.0092	289	c.772 others(308): Show c.772+56532_772+56533insCATATATAATATATACATATATTATA TATCATATATAATATATACATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATACATATATTATATATCATATATAAT ATATGTATATATTATATATCATATATAATATATGTATATATTATATATCA TATATAATATATACATATATTATATATCATATATAATATATACATATATT ATATATCATATATATGATATATAATACATACATATATATGATATATAATA CATACATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540912	T T	TTATATAT others(282): Show TTATATATCATATATAATATATACATATATTATATATCATATATAATATA TACATATATTATATATCATATATAATATATACATATATTATATATCATAT ATAATATATACATATATTATATATCATATATAATATATGTATATATTATA TATCATATATAATATATGTATATATTATATATCATATATAATATATGTAT ATATTATATATCATATATAATATATACATATATTATATATCATATATATG ATATATAATACATACATATATATGATATATAATACATACA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	109	0.0092	289	c.772 others(308): Show c.772+56532_772+56533insCATATATAATATATACATATATTATA TATCATATATAATATATACATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATACATATATTATATATCATATATAAT ATATGTATATATTATATATCATATATAATATATGTATATATTATATATCA TATATAATATATGTATATATTATATATCATATATAATATATACATATATT ATATATCATATATATGATATATAATACATACATATATATGATATATAATA CATACATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(282): Show AATATATATATCATATATATATGAAATATATATATGATATATATATGAAA TATATATATCATATATATATGAAATATATATATGATATATGAAATATATA TATGATATATGAAATATATATATGATATATGAAATATATATATGATATAT ATATGAAATATATATATGATATATATATGAAATATATATATGATATATAT ATGAAATATATATATGATATATATATGAAATATATATATGATATATATAT GAAATATATATATGATATATATATGAAATATATATATGAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0227 a0002c0002t0001g0227	1	54	0.0185	289	c.25- others(304): Show c.25-1970_25-1969insATCATATATATATGAAATATATATATGATA TATATATGAAATATATATATCATATATATATGAAATATATATATGATATA TGAAATATATATATGATATATGAAATATATATATGATATATGAAATATAT ATATGATATATATATGAAATATATATATGATATATATATGAAATATATAT ATGATATATATATGAAATATATATATGATATATATATGAAATATATATAT GATATATATATGAAATATATATATGATATATATATGAAATATATATATGA TATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
KAZN_chr1_14593685_15123043	14933567	A A	ATCCAGGT others(282): Show ATCCAGGTATCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0045 a0001c0001t0020g0045	1	141	0.0071	289	c.227 others(308): Show c.227-27102_227-27101insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTC CAGGTATCTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNJ6_chr21_37602373_37921457	37712635	C C	CTCCTCCC others(282): Show CTCCTCCCCTTCTCCTCCTCTCCTTCCTCCCTTTCTCTTCCCTCCCTCCT CCTCCCTCCCTCCTCCCCTTCTCCTCCTCTCCTTCTCCTCCTCTCCTTCC TCCCTTTCTCTTCCCTCCCTCCTCCCCTCCTCCTCTCTCCCTCCTCTTCC CTCCCTCCTCCCCTTCTCCTCCTCTCCTTTCTCCCTTTCTCTTCCCTCCT TCCTCCCCTTCTCCTCCTCTCCTTCCTCCCTTTCTCTTCCCTCCCTCCTC CCCTTCTCCTCCTCTCCTTCCTCCCTTTCTCTTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0145 a0001c0002t0145	a0001c0002t0145g0147 a0001c0002t0145g0147	1	131	0.0076	289	c.946 others(306): Show c.946+1575_946+1576insAGGAGGGAAGAGAAAGGGAGGAAGGAGA GGAGGAGAAGGGGAGGAGGGAGGGAAGAGAAAGGGAGGAAGGAGAGGAGG AGAAGGGGAGGAAGGAGGGAAGAGAAAGGGAGAAAGGAGAGGAGGAGAAG GGGAGGAGGGAGGGAAGAGGAGGGAGAGAGGAGGAGGGGAGGAGGGAGGG AAGAGAAAGGGAGGAAGGAGAGGAGGAGAAGGAGAGGAGGAGAAGGGGAG GAGGGAGGGAGGAGGAGGGAGGGAAGAGAAAGGGAGGAAGGAGAGGAGGA GAAGGGGAGGA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNMB2_chr3_178531436_178849429	178758770	T T	TATATATA others(282): Show TATATATATATATATATCTCCTCTAGGAGAGATATATATATATATATATA TATCTCCAAGAGGAGATATATATATATATATATATATCTCCTCTAGGAGA TATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGA GATATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAG GAGATATATATATATATCTCCAAGAGGAGATATATATATATATATATATC TCCAAGAGGAGATATATATATATATATATCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	204	0.0049	289	c.-67 others(308): Show c.-67-48557_-67-48556insCTCCTCTAGGAGAGATATATATATAT ATATATATATCTCCAAGAGGAGATATATATATATATATATATATCTCCTC TAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCC AAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCT CCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATAT ATATATCTCCAAGAGGAGATATATATATATATATATCTCCAAGAGGGATA TATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIAA0825_chr5_94145851_94623604	94608474	A A	ATATTATA others(282): Show ATATTATATATATAATATATATTATATATATAATATATATAATATATATA AAATATATATATTATATATATAATATATATTATATATATAATATATATAT TTTATATATATTATATATATAAAATATATATATTATATATATAATATATA TTATATATATAATATATATATTTTATATATATAATATATATTATATATAT AATATATATATTATATATATAATATATATTATATATATAAAATATATATA TTATATATATAATATATATTATATATATAATATATATATT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0005 a0004c0012t0005	a0004c0012t0005g0034 a0004c0012t0005g0034	1	32	0.0313	289	c.-15 others(310): Show c.-153+10025_-153+10026insAATATATATATTATATATATAATA TATATTATATATATAATATATATATTTTATATATATAATATATATTATAT ATATAATATATATATTATATATATAATATATATTATATATATAAAATATA TATATTATATATATAATATATATTATATATATAATATATATATTTTATAT ATATAATATATATAAAATATATATATTATATATATAATATATATTATATA TATAATATATATATTTTATATATATTATATATATTATATATATAATATAT ATTATATATATAATA	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	1/20			chr5	TogoVar
KIAA1549_chr7_138826381_138986389	138878761	C C	CAAAAAAA others(282): Show CAAAAAAAAATATTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATTCCGCCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0010 a0003c0006t0010	a0003c0006t0010g0111 a0003c0006t0010g0111	1	188	0.0053	289	c.434 others(306): Show c.4345+776_4345+777insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGGC GGAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA TATTTTTTTTT	KIAA1549	ENSG00000122778.10	transcript	ENST00000422774.2	protein_coding	12/19			chr7	TogoVar
KIF26B_chr1_245149985_245714432	245600127	T T	TTCCCGGG others(282): Show TTCCCGGGTTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTATAGAG GGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCCCGACCTCAGATG ATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAGGCTATTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTG GAGCGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0013 a0001c0044t0013	a0001c0044t0013g0106 a0001c0044t0013g0106	1	76	0.0132	289	c.135 others(308): Show c.1351-2439_1351-2438insACCGATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATT TTTAGTATAGAGGGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCC CGACCTCAGATGATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAG GCTATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTG TCGCCCAGGCTGGAGCGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCG CCTCCCGGGTTCA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245600127	T T	TTCCCGGG others(282): Show TTCCCGGGTTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTATAGAG GGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCCCGACCTCAGATG ATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAGGCTATTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTG GAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03139.hp2 HG03041.hp1 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0038 a0003c0008 a0001c0038 a0003c0008	a0001c0038t0006 a0003c0008t0004 a0001c0038t0006 a0003c0008t0004	a0001c0038t0006g0097 a0003c0008t0004g0087 a0001c0038t0006g0097 a0003c0008t0004g0087	2	77	0.0260	289	c.135 others(308): Show c.1351-2439_1351-2438insACCGATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATT TTTAGTATAGAGGGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCC CGACCTCAGATGATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAG GCTATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCG CCTCCCGGGTTCA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245600127	T T	TTCCCGGG others(282): Show TTCCCGGGTTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTATAGAG GGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCCCGACCTCAGATG ATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAGGCTATTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTG GAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02647.hp2 HG02809.hp2 others(1): Show HG02055.hp1 HG02647.hp2 HG02809.hp2 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0003c0008 a0001c0001 a0003c0003 a0003c0008	a0001c0001t0012 a0001c0001t0029 a0003c0003t0070 others(1): Show a0001c0001t0012 a0001c0001t0029 a0003c0003t0070 a0003c0008t0006	a0001c0001t0012g0003 a0001c0001t0029g0094 a0003c0003t0070g0065 others(1): Show a0001c0001t0012g0003 a0001c0001t0029g0094 a0003c0003t0070g0065 a0003c0008t0006g0095	4	79	0.0506	289	c.135 others(308): Show c.1351-2439_1351-2438insACCGATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATT TTTAGTATAGAGGGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCC CGACCTCAGATGATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAG GCTATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTG TCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCG CCTCCCGGGTTCA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
LUC7L_chr16_183990_234449	187155	G G	GGGAGGAA others(282): Show GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGTCACGGGAGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACG GGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	282	0.0035	289	c.20 others(300): Show c.2042_*2043insTCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCT CCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTG TTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTG TCGCTGTTCCTCCCGTGACGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCC GTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTT CCTCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1834		chr16	TogoVar
LUZP2_chr11_24492053_25087638	25052750	A A	ACTTAATT others(282): Show ACTTAATTTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACA GAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02970.hp1 HG01109.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0038 a0001c0001t0003 a0001c0001t0038	a0001c0001t0003g0036 a0001c0001t0038g0034 a0001c0001t0003g0036 a0001c0001t0038g0034	2	115	0.0174	289	c.858 others(306): Show c.858+2637_858+2638insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACAGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGC TCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTTAAT TTCATTTTTTT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
MALRD1_chr10_19043801_19739478	19238498	A A	ATTATATA others(282): Show ATTATATATTATATATATTATACATTATATATAATGTATATTATATATTA TATATATTATACATTATATATAATGTATAATATATATTATATATAATATA CATTATATATAATGTATAATATATATTATATATTATACATTATATATAAT GTATAATATATATTATATATTATACATTATATATAATGTATAATATATAT TATATATAATATACATTATATATAATGTATAATATATATTATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0076 a0076	a0076c0034 a0076c0034	a0076c0034t0003 a0076c0034t0003	a0076c0034t0003g0112 a0076c0034t0003g0112	1	112	0.0089	289	c.299 others(310): Show c.2992-19186_2992-19185insTTATATATTATATATATTATACAT TATATATAATGTATATTATATATTATATATATTATACATTATATATAATG TATAATATATATTATATATAATATACATTATATATAATGTATAATATATA TTATATATTATACATTATATATAATGTATAATATATATTATATATTATAC ATTATATATAATGTATAATATATATTATATATAATATACATTATATATAA TGTATAATATATATTATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39			chr10	TogoVar
MBD5_chr2_148016091_148521971	148019816	T T	TAAATCCT others(282): Show TAAATCCTTTCTTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCA CGAGGTCAAGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGAGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0030 a0001c0001t0005g0030	1	186	0.0054	289	c.-27 others(300): Show c.-2793_-2792insAAATCCTTTCTTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCTAACAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCAC TCCAGCCTGGGAGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding		1274		chr2	TogoVar
MPG_chr16_73225_90846	82225	T T	TCTCCGGG others(282): Show TCTCCGGGAAGCCCTCCTGAATACTCCCCCGGCGCTGACCCCTTCTTCCC ACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGACCCCT TCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATACTCCCCCGGCG CTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCT CCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCT GAATACTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	72	0.0139	289	c.301 others(304): Show c.301-806_301-805insACTCCCCCGGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATACTCCCCCGGCGCT GACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCC CCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGA ATACTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCC CTCCTGAAT	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MROH1_chr8_144143016_144266926	144203090	G G	GGGGGGGG others(282): Show GGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGGGGGCGGGGGGGGGGAGC GCCCGCTGTCTGTGGAGGGGCGGGGGGGGGAAGCGCCCGCTGTCTGTGGA GGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCGCC CGCTCTCTGTGGAGGGGCGGGGGGGGGAAGCGCCCGCTGTCTGTGGAGGG GCGGGGGGGGGAAGCGCCCGCTGTCTGTGGAGGGGGGGAGCGCCCGCTGT CTGTGGAGGGGCGGGGGGGGGAGCGCCCGCTGTCTGTGGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0016 a0002c0006t0001g0016	1	131	0.0076	289	c.114 others(308): Show c.1141+2580_1141+2581insGGGGCGGGGGGGGGGAGCGCCCGCTG TCTGTGGAGGGGCGGGGGGGGGAAGCGCCCGCTGTCTGTGGAGGGGGGGG GGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCGCCCGCTCTCT GTGGAGGGGCGGGGGGGGGAAGCGCCCGCTGTCTGTGGAGGGGCGGGGGG GGGAAGCGCCCGCTGTCTGTGGAGGGGGGGAGCGCCCGCTGTCTGTGGAG GGGCGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGGGGGAGCGCCCGCT GTCTGTGGAGGGG	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSH4_chr1_75791882_75918242	75886338	T T	TATTATAT others(282): Show TATTATATATAGCATGTATAGTATATATGATGTATTATATATAGCATGTA TAGTATATATGATGTATTATATATAGCATGTATAGTATATATGATGTATT ATATATAGCATGTATAGTATATATGATGTATTATATATAGCATGTATAGT ATATATGATGTATTATATATAGTGTATAGTATATATGGTATATATGATGT ATTATATATTATATATAATATATATGATGTATTATATATTATATATAATA TATATGATGTATTATATATTATATATAATATATATGATGC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0307 a0001c0002t0001g0307	1	327	0.0031	289	c.210 others(308): Show c.2107+2526_2107+2527insAGCATGTATAGTATATATGATGTATT ATATATAGCATGTATAGTATATATGATGTATTATATATAGCATGTATAGT ATATATGATGTATTATATATAGCATGTATAGTATATATGATGTATTATAT ATAGCATGTATAGTATATATGATGTATTATATATAGTGTATAGTATATAT GGTATATATGATGTATTATATATTATATATAATATATATGATGTATTATA TATTATATATAATATATATGATGTATTATATATTATATATAATATATATG ATGCATTATATAT	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(282): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATTTTATATATTATTTTATATAATATATATTATATAATATAATA TATATTATATATAATATATATTATATATAATATAATATATATTTTATATA ATATATATTATATATAATATAATATATATTTTATATAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0079 a0001c0005t0001g0079	1	117	0.0085	289	c.51 others(300): Show c.5159_*5160insATATAATAATATATATTTTATATAATATATATTA TATATAATATAATATATATTATATAAAATATATATTATATTATATATAAT ATATATTATATAAAATATATATTATATTATATATAATATATATTATATAT AATATATATTATATTATATAATATATATTATATAAAATAATATATAAAAT AATATATATTTTATATAATATATATTATATATAATATAATATATATTTTA TATAATATATATTATATATAATATAATATATATTATATATAATATATATT ATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
NCAPG2_chr7_158626169_158709804	158668342	A A	AACTGGGT others(282): Show AACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTGTGGCCCTCC ACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCGACCCTGGGT CCCTCCGCCCCCCCTTACCCACTACTGGGTCCCTCTGCCCTCCTTACCTA CCTTGTGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTC CCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0312 a0001c0001t0002g0312	1	292	0.0034	289	c.147 others(308): Show c.1479+3171_1479+3172insAGTGGGTAAGGAGGGCGGAGGGACCC AGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGC GGAGGGACACAAGGTAGGTAAGGAGGGCAGAGGGACCCAGTAGTGGGTAA GGGGGGGCGGAGGGACCCAGGGTCGGTAAGGAAGGCGGAGGGACCCAGTA GTGGGTAAGAGGGTGGAGGGCCACAGGGTAGGTAAGGAGGGCGGAGGGAC CCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGC GGAGGGACCCAGT	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NDST4_chr4_114822763_115118620	114976961	T T	TGGGAGGC others(282): Show TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GTGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0158 a0002c0007t0001g0158	1	183	0.0055	289	c.106 others(306): Show c.1066+225_1066+226insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCT GGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCACCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCC	NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding	3/13			chr4	TogoVar
NDUFB1_chr14_92111123_92126706	92120589	G G	GTCCGCCC others(282): Show GTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAT CACGCCCGGCTCTTTTTTTTTTTTTTTTTCTCTCTGTGGCCCAGGCTGGA GTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC CACCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGACACAGGGTTTCA CCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00438.hp2 others(118): Show HG00140.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03490.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03834.hp2 HG04184.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18945.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18979.hp2 NA18981.hp1 NA18984.hp1 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19074.hp1 NA19077.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0011 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078	121	297	0.4074	289	c.-6+ others(304): Show c.-6+1052_-6+1053insTCACGAGGTCAGGAGATCAAGACCATCCTG GCTAACATGGTGAAACCCTGTGTCTACTAAAAATACAAAAAAAATTAGCT GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGC GCCACTGCACTCCAGCCTGGGCCACAGAGAGAAAAAAAAAAAAAAAAAGA GCCGGGCGTGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAG GCGGGCGGA	NDUFB1	ENSG00000183648.11	transcript	ENST00000605997.6	protein_coding	1/2			chr14	TogoVar
NEK7_chr1_198151998_198327420	198274158	T T	TTCTAGTT others(282): Show TTCTAGTTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02809.hp2 others(2): Show HG02258.hp1 HG02280.hp2 HG02809.hp2 HG03139.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 others(2): Show a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0200	5	257	0.0195	289	c.373 others(306): Show c.373-3791_373-3790insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGT CTAGTTCTCTT	NEK7	ENSG00000151414.15	transcript	ENST00000367385.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NEU4_chr2_241804193_241822413	241805865	C C	CCCTCCCC others(282): Show CCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCC TCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0103 a0002c0003t0002g0103	1	315	0.0032	289	c.-34 others(300): Show c.-3413_-3412insCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCT CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGAC CTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3327		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807572	T T	TCCCCCCT others(282): Show TCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGC CCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	292	0.0034	289	c.-17 others(300): Show c.-1706_-1705insCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCC TCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCA GGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1620		chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(282): Show CTGTATATATGTACAGTATGTATACTGTATATATGTACAGTATGTATACT GTATACAGTATGTATACTGTATACAGCATGTATACTGTATACAGCATGTA TACTGTATACAGCATGTATACTGTATATATGTACAGTATGTATACCGTAT ACAGCATGTATACTGTATATATGTACAGTATGTATACCGTATACAGTATG TATACCGTATACATATACAGTATGTATACCGTATACAGTATGTATACCGT ATATATACACAGTATGTATACCGTATATATATACACAGTA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	118	0.0085	289	c.-75 others(308): Show c.-75+17711_-75+17712insTACTGTGTATATATATACGGTATACA TACTGTGTATATATACGGTATACATACTGTATACGGTATACATACTGTAT ATGTATACGGTATACATACTGTATACGGTATACATACTGTACATATATAC AGTATACATGCTGTATACGGTATACATACTGTACATATATACAGTATACA TGCTGTATACAGTATACATGCTGTATACAGTATACATGCTGTATACAGTA TACATACTGTATACAGTATACATACTGTACATATATACAGTATACATACT GTACATATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar

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