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
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(289): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCGCCCCGCCCCGCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA19002.hp1 NA18967.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	9	0.2222	296	c.31 others(307): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGC CACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(289): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCTTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCGCCCCGCCCCGCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	8	0.1250	296	c.31 others(307): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCAAGGGGCCGGGGGCAGC CACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795610	C C	CCCCCGGC others(289): Show CCCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCC CCCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCTCCC CGCCCCGCCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18975.hp1 NA18747.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	415	0.0048	296	c.31 others(307): Show c.3108_*3109insACAGCCACACGGGCAGCGCGGGGGGGGGGGAGGG GAGGGGCGGGGCGGGGAGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGGTTGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTG GGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAG AAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGC ACGGGGCCGGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2430		chr16	TogoVar
GPC5_chr13_91393621_92872237	92162054	T T	TAAGATTT others(289): Show TAAGATTTTTTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCAGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGT GTGAACCCAGAAGGCGGAGCTTGCAGTGAGCGGAGATGGCGCCACAGCAC TCCTGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG01891.hp2 HG02280.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0018 a0002c0002t0003g0026 a0001c0001t0001g0018 a0002c0002t0003g0026	2	39	0.0513	296	c.156 others(317): Show c.1561+17078_1561+17079insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CTGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGTGTGAACCCAGAAGGCGGAGCTTGCAGTGAGCGGAGATG GCGCCACAGCACTCCTGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAA AAAAAAAAAAAGATTTTTTGTC	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPIHBP1_chr8_143208218_143222170	143218109	C C	CCCCCAAC others(289): Show CCCCCAACACCACCCCAACACCACCCCCAACACCACCCAACACCACCCAC CACCACCCACCACCACCCACCACAAGGCCCAACACCACCCACAACTCCAC CCCCCACACCACCCCCCCACACCACCCCCCACACCACCCCCAACACCACC CCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCA ACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACAC CACCCCAACACCACCCCAACACCACCCCAACACCACCCCCAACACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	94	0.0106	296	c.25 others(307): Show c.2591_*2592insCCCCAACACCACCCCAACACCACCCCCAACACCA CCCAACACCACCCACCACCACCCACCACCACCCACCACAAGGCCCAACAC CACCCACAACTCCACCCCCCACACCACCCCCCCACACCACCCCCCACACC ACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCC CCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCA ACACCACCCCAACACCACCCCAACACCACCCCAACACCACCCCAACACCA CCCCCAACACCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		940		chr8	TogoVar
GPR173_chrX_53043789_53085615	53073916	T T	TATATATT others(289): Show TATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATATATATATATAAATATATA TATTTATATATATATATAAATATATATATTTATATTTATTTATATATATA AATATATATATTTATATTTATTTATATATATATAAATATATATATTTATA TTTATATTTATATATTTATATTTATATATATAAATATATATATTTATATT TATTTATATATATAAATATATATATTAATATATATTTATATATATAA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0078 a0001c0001t0035g0078	1	206	0.0049	296	c.-97 others(313): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074457	A A	AATATATA others(289): Show AATATATATAAATATATATAAATATATATTTATATTTATTTGTAAATAAA TATATATAAATATATATAAATATATATTTATATTTATTTATAAATAAATA TATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATA TATTTATATTTATTTATATATAAATATATAAATATATATTTATATTTATT TATATATAAATATATAAATATATATTTATAGTTATTTATATATAAATATA TAAATATATATTTATAGTTATTTATATATAAATATATAAATCTATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0056 a0001c0002t0009g0056	1	140	0.0071	296	c.-97 others(313): Show c.-97-2068_-97-2067insATATATATAAATATATATAAATATATAT TTATATTTATTTGTAAATAAATATATATAAATATATATAAATATATATTT ATATTTATTTATAAATAAATATATATAAATATATATTTATATTTATTTAT AAATAAATATATATAAATATATATTTATATTTATTTATATATAAATATAT AAATATATATTTATATTTATTTATATATAAATATATAAATATATATTTAT AGTTATTTATATATAAATATATAAATATATATTTATAGTTATTTATATAT AAATATATAAATCTATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1			chrX	TogoVar
GRTP1_chr13_113319163_113369130	113346521	A A	ACAGTGGA others(289): Show ACAGTGGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACC TCTGTGGCTGAGAACAGACCCAGGAGGACCTCTGTGGCCGAGAGCAGACC CAGGAGCACCTCTGTGGCTGAGCGGATCCGGGAGGACCTCTGTGGCTGAC AGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGACCTC TGTGGCCGAGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAGCAGACCTG GGAGGACCTCTGTGGCCGAGAGCGGACCCAGGAGCACCTCTGTGGCT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	279	0.0036	296	c.466 others(313): Show c.466-1563_466-1562insAGCCACAGAGGTGCTCCTGGGTCCGCTC TCGGCCACAGAGGTCCTCCCAGGTCTGCTCTCGGCCACAGAGGTCCTCCC GGGTCTGCTCTCGGCCACAGAGGTCCTCCCGGGTCTGCTCTCAGCCACAG AGGTCCTCCCGGGTCCACTGTCAGCCACAGAGGTCCTCCCGGATCCGCTC AGCCACAGAGGTGCTCCTGGGTCTGCTCTCGGCCACAGAGGTCCTCCTGG GTCTGTTCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAG GTCCTCCCGGGTCCACTG	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346907	T T	TGAGAACA others(289): Show TGAGAACAGACCCGGGAGGACCTCTGTGGCCGAGAACAGATCCGGGAGGA CCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGCGGATC TGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCG AGAACAGATCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACC TCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCTGAGAACAGACCCG GGAGGACCTCTGTGGCCGAGAACAGATCCGGGAGGACCTCTGAAGCC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	187	0.0053	296	c.466 others(313): Show c.466-1949_466-1948insGGCTTCAGAGGTCCTCCCGGATCTGTTC TCGGCCACAGAGGTCCTCCCGGGTCTGTTCTCAGCCACAGAGGTCCTCCC AGATCCGCTCAGCCACAGAGGTCCTCCCGGGTCCGCTCTCAGCCACAGAG GTCCTCCCGGATCTGTTCTCGGCCACAGAGGTCCTCCCGGGTCTGCTCTC TGCCACAGAGGTCCTCCCAGATCCGCTCAGCCACAGAGGTCCTCCTGGGT CTGCTCTCGGCCACAGAGGTCCTCCCGGATCTGTTCTCGGCCACAGAGGT CCTCCCGGGTCTGTTCTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GUCY1A2_chr11_106669019_107023476	106709684	A A	ATTATATA others(289): Show ATTATATACACGTATAGAATATATAGTTATATACACGTATAGAATATATA GTTATATACACGTATAGAATATATAGTTATATACACGTATAGAATATATA GTTATATATTATATACACGTATAGAATATATAGTTATATACACGTATAGA ATATATAGTTATATACACGTATAGAATATATAGTTATATATTATATACAC GTATAGAATATATAGTTATATACACGTATAGAATATATAGTTATATACAC GTATAGAATATATAGTTATATATTATATACACGTATAGAATATATAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00597.hp1 others(35): Show HG00438.hp2 HG00544.hp2 HG00597.hp1 HG01192.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG02080.hp1 HG02293.hp2 HG02683.hp1 HG03017.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03942.hp2 NA18747.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18964.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA19003.hp1 NA19010.hp2 NA19064.hp1 NA19079.hp1 NA19090.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0001c0014 a0001c0015	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(11): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0023 a0001c0001t0024 a0001c0001t0030 a0001c0001t0063 a0001c0001t0064 a0001c0002t0001 a0001c0004t0001 a0001c0004t0023 a0001c0009t0001 a0001c0014t0001 a0001c0015t0068	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 others(35): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0085 a0001c0001t0001g0102 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0007g0010 a0001c0001t0007g0149 a0001c0001t0011g0123 a0001c0001t0011g0136 a0001c0001t0011g0137 a0001c0001t0011g0141 a0001c0001t0023g0012 a0001c0001t0024g0153 a0001c0001t0024g0166 a0001c0001t0030g0168 a0001c0001t0063g0134 a0001c0001t0064g0147 a0001c0002t0001g0192 a0001c0004t0001g0190 a0001c0004t0023g0225 a0001c0009t0001g0135 a0001c0014t0001g0255 a0001c0015t0068g0256	38	240	0.1583	296	c.183 others(315): Show c.1837-1019_1837-1018insCTATATATTCTATACGTGTATATAAT ATATAACTATATATTCTATACGTGTATATAACTATATATTCTATACGTGT ATATAACTATATATTCTATACGTGTATATAATATATAACTATATATTCTA TACGTGTATATAACTATATATTCTATACGTGTATATAACTATATATTCTA TACGTGTATATAATATATAACTATATATTCTATACGTGTATATAACTATA TATTCTATACGTGTATATAACTATATATTCTATACGTGTATATAACTATA TATTCTATACGTGTATATAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106709765	T T	TACACGTA others(289): Show TACACGTATAGAATATATAGTTATATATTATATACACGTATAGAATATAT AGTTATATACACGTATAGAATATATAGTTATATACACGTATAGAATATAT AGTTATATATTATATACACGTATAGAATATATAGTTATATACACGTATAG AATATATAGTTATATACACGTATAGAATATATAGTTATATATTATATACA CGTATAGAATATATAGTTATATACACGTATAGAATATATAGTTATATACA CGTATAGAATATATAGTTATATACACGTATAGAATATATAGTTATAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0011 a0001c0001t0065g0011	1	254	0.0039	296	c.183 others(315): Show c.1837-1100_1837-1099insTTATAACTATATATTCTATACGTGTA TATAACTATATATTCTATACGTGTATATAACTATATATTCTATACGTGTA TATAACTATATATTCTATACGTGTATATAATATATAACTATATATTCTAT ACGTGTATATAACTATATATTCTATACGTGTATATAACTATATATTCTAT ACGTGTATATAATATATAACTATATATTCTATACGTGTATATAACTATAT ATTCTATACGTGTATATAACTATATATTCTATACGTGTATATAATATATA ACTATATATTCTATACGTGT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	107022930	T T	TAAAATCA others(289): Show TAAAATCACAATGTGACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAACAGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 NA18906.hp1 HG02109.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0014 a0001c0003t0003 a0001c0003t0014	a0001c0003t0003g0240 a0001c0003t0014g0245 a0001c0003t0003g0240 a0001c0003t0014g0245	2	226	0.0088	296	c.-48 others(307): Show c.-4876_-4875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTGTTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTCA CATTGTGATTTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding		4455		chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	107022930	T T	TAAAATCA others(289): Show TAAAATCACAATGTGACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAACAGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0230 a0001c0003t0026g0230	1	225	0.0044	296	c.-48 others(307): Show c.-4876_-4875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTGTTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTCA CATTGTGATTTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding		4455		chr11	TogoVar
GXYLT2_chr3_72883046_72981915	72885449	C C	CACCCAAG others(289): Show CACCCAAGGCCCTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02809.hp2 HG02970.hp2 others(1): Show HG02451.hp1 HG02809.hp2 HG02970.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0084 a0001c0001t0003g0082 a0001c0001t0003g0083 others(1): Show a0001c0001t0001g0084 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0101	4	294	0.0136	296	c.-27 others(307): Show c.-2785_-2784insACCCAAGGCCCTCTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATT	GXYLT2	ENSG00000172986.13	transcript	ENST00000389617.9	protein_coding		2596		chr3	TogoVar
HCN1_chr5_45249948_45701380	45257948	C C	CAGTATGA others(289): Show CAGTATGAGTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG02559.hp1 HG03130.hp2 HG01109.hp2 HG02559.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0198 a0001c0001t0006g0205 a0001c0001t0006g0064 a0001c0001t0006g0198 a0001c0001t0006g0205	3	218	0.0138	296	c.39 others(307): Show c.3972_*3973insAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGT AGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA GGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AGTACTCATACT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	8/8	3972		chr5	TogoVar
HDLBP_chr2_241222291_241320672	241264041	T T	TAAGAAAG others(289): Show TAAGAAAGAACAGCGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	331	0.0030	296	c.234 others(311): Show c.234+406_234+407insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCG CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCT CCCGCTGTTCTTTCTT	HDLBP	ENSG00000115677.18	transcript	ENST00000310931.10	protein_coding	4/27			chr2	TogoVar
HEATR6_chr17_60036008_60083921	60042602	T T	TGTCAGCA others(289): Show TGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCTC GCGTCCTGTGCGGCTGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGCGG CTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACCG TCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACCGTCAGCATCCTCGC GTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGGCT GTGAGGCACCGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	201	0.0050	296	c.96 others(305): Show c.960_*961insGGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGA CGGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGACAGTGCCTCACAG CCGCACAGGACGCGAGGATGCTGACGGTGCCTCACAGCCGCACAGGACGC GAGGATGCTGACGGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGACA GTGCCTCACAGCCGCACAGGACGCGAGGATGCTGACGGTGCCTCACAGCC GCACAGGACGCGAGGATGCTGACAGTGCCTCACAGCCGCACAGGACGCGA GGATGCTGAC	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20	960		chr17	TogoVar
HS3ST2_chr16_22809162_22921338	22818803	T T	TCCCTCCC others(289): Show TCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCGTCCTT CCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCATTCCTTCCTCCCTTCCTTCCTTCCCTCCTTCCTTCCTT CCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCC TTCCCTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCATT CCTTCCTCCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0004 a0001c0005t0002g0004	1	280	0.0036	296	c.485 others(313): Show c.485+3708_485+3709insCCCTCCCTTCCTTCCTTCCTTCCTTCCT TCATTCCTTCCTTCCGTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTCCCTTCCT TCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCC CTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCT TCCTTCCTTCCTTCCTTCATTCCTTCCTCCCTTCCTTCCTTCCCTCCTTC CTTCCTTCCTTCCTTCCC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1			chr16	TogoVar
HS3ST3A1_chr17_13489032_13606929	13533514	T T	TGAAGTTA others(289): Show TGAAGTTATTAATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	256	0.0039	296	c.600 others(315): Show c.600-36697_600-36696insGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTA GTGGCGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAATTAATAACTTC	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HSF1_chr8_144286604_144319720	144313788	G G	GCGCCGCC others(289): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCTCC CCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCG CGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCC CGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTC CCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTC CCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	28	0.0357	296	c.124 others(311): Show c.1249-57_1249-56insGCCGCCTCCCCGCGCCGCCTCCCCGCGCCG CGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCT CCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGC CTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCC GCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCC TCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTC CCCGCCTCCCCGCCTC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
INO80_chr15_40973880_41121280	41031591	G G	GAGGAAGG others(289): Show GAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAA GGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAA GGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGG GAGGAAGGGAGGAAAGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0269 a0001c0001t0023g0269	1	254	0.0039	296	c.290 others(315): Show c.2908-3856_2908-3855insTTCTCCCTCCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCTTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTC CTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCT TCCTCCCTTCCTCCCTTCCT	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
IZUMO3_chr9_24537952_24550897	24546511	T T	TCTTTTCT others(289): Show TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	1	322	0.0031	296	c.-86 others(305): Show c.-863_-862insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		615		chr9	TogoVar
KALRN_chr3_124028369_124731325	124110267	T T	TATATATA others(289): Show TATATATATGACATATATGTCATACTTTGATATATATATGACATATATGT CATACTTTGATATATATATGACATATATGTCATACTTTGATATATATATG ACATATATGTCATACTTTGATATATATATGACATATATGTCATACTTTGA TATATATATGACATATATGTCATACTTTGATATATATATGACATATATGT CATACTTTGATATATATATGACATATATGTCATACTTTGATATATATATG ACATATATGTCATACTTTGATATATATGACATATATGTCATACTTTG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0070 a0001c0008t0002g0070	1	101	0.0099	296	c.73+ others(313): Show c.73+76531_73+76532insGTCATACTTTGATATATATATGACATAT ATGTCATACTTTGATATATATATGACATATATGTCATACTTTGATATATA TATGACATATATGTCATACTTTGATATATATATGACATATATGTCATACT TTGATATATATATGACATATATGTCATACTTTGATATATATATGACATAT ATGTCATACTTTGATATATATGACATATATGTCATACTTTGATATATATG ACATATATGTCATACTTTGATATATATATGACATATATGTCATACTTTGA TATATATATGACATATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124110267	T T	TATATATA others(289): Show TATATATATGACATATATGTCATACTTTGATATATATATGACATATATGT CATACTTTGATATATATGACATATATGTCATACTTTGATATATATATGAC ATATATGTCATACTTTGATATATATATGACATATATGTCATACTTTGATA TATATATGACATATATGTCATACTTTGATATATATATGACATATATGTCA TACTTTGATATATATATGACATATATGTCATACTTTGATATATATATGAC ATATATGTCATACTTTGATATATATATGACATATATGTCATACTTTG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0066 a0001c0066	a0001c0066t0001 a0001c0066t0001	a0001c0066t0001g0055 a0001c0066t0001g0055	1	101	0.0099	296	c.73+ others(313): Show c.73+76520_73+76521insGACATATATGTCATACTTTGATATATAT ATGACATATATGTCATACTTTGATATATATATGACATATATGTCATACTT TGATATATATATGACATATATGTCATACTTTGATATATATATGACATATA TGTCATACTTTGATATATATATGACATATATGTCATACTTTGATATATAT ATGACATATATGTCATACTTTGATATATATATGACATATATGTCATACTT TGATATATATGACATATATGTCATACTTTGATATATATATGACATATATG TCATACTTTGATATATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758165	G G	GATATATA others(289): Show GATATATATATATATATATATATCCAAGAGGATATATATATATATATATA TATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATA TATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGGATATATATATATATATATATATC CAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATATA TATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	63	0.0159	296	c.-67 others(315): Show c.-67-49162_-67-49161insATATATCCAAGAGGATATATATATAT ATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGAT ATATATATATATATATATCCAAGAGGATATATATATATATATATATCCAA GAGGATATATATATATATATATATATCCAAGAGGATATATATATATATAT ATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATAT ATATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGG ATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758241	G G	GATATATA others(289): Show GATATATATATATATATATATCCAAGAGGATATATATATATATATATATC CAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATA TATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATATA TATATATCCAAGAGGATATATATATATCCAAGAGGATATATATATATATA TATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATC TATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	106	0.0094	296	c.-67 others(315): Show c.-67-49088_-67-49087insATATATCCAAGAGGATATATATATAT ATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATAT ATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATAT ATATATATATATATATCCAAGAGGATATATATATATCCAAGAGGATATAT ATATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGG ATATATATCTATATATATCCAAGAGGATATATATATATATATATCCAAGA GGATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758767	G G	GAGATATA others(289): Show GAGATATATATATATATATCTCCTCTAGGAGAGATATATATATATATATA TATATCTCCAAGAGGAGATATATATATATATATATATATCTCCTCTAGGA GATATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAG GAGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAG AGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATATATA TCTCCAAGAGGAGATATATATATATATATATATCTCCAAGAGGGATA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	80	0.0125	296	c.-67 others(315): Show c.-67-48576_-67-48575insAGATATATATATATATATCTCCTCTA GGAGAGATATATATATATATATATATATCTCCAAGAGGAGATATATATAT ATATATATATATCTCCTCTAGGAGATATATATATATATCTCCAAGAGGAG ATATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGG AGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGA GGAGATATATATATATATATATATCTCCAAGAGGAGATATATATATATAT ATATATCTCCAAGAGGGATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KIF25_chr6_167992671_168050091	167997208	G G	GGGGCGAC others(289): Show GGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATG GGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTG GGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0335 a0003c0004t0005g0335	1	304	0.0033	296	c.-22 others(307): Show c.-2261_-2260insGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGG GAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGA ATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		462		chr6	TogoVar
KNDC1_chr10_133155219_133231412	133155584	A A	AACTGTGG others(289): Show AACTGTGGAATATTGATGTCATTGGAAAGAGAACCTCAACTGTGGGGTAT TGACGTCATTGGAAAGAGAACCTCAACCGTGGAGTATTGACATCATTGGA AAGAGAACCTCAACTGTGGGGTATTGACGTCATTGGAAAGAGAGCCTCAA CTGTGGAATATTGATGTCATTGGAAAGAGAACCTCAACTGTGGGGTATTG ACGTCATTGGAAAGAGAACCTCAACCGTGGAGTATTGACATCATTGGAAA GAGAACCTCAACTGTGGGGTATTGACGTCGTTGGAAAGAGAACCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02451.hp1 NA20300.hp1 HG02145.hp1 HG02451.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0011 a0001c0001 a0003c0011	a0001c0001t0004 a0003c0011t0001 a0001c0001t0004 a0003c0011t0001	a0001c0001t0004g0157 a0003c0011t0001g0145 a0003c0011t0001g0146 a0001c0001t0004g0157 a0003c0011t0001g0145 a0003c0011t0001g0146	3	330	0.0091	296	c.-48 others(307): Show c.-4884_-4883insACTGTGGAATATTGATGTCATTGGAAAGAGAACC TCAACTGTGGGGTATTGACGTCATTGGAAAGAGAACCTCAACCGTGGAGT ATTGACATCATTGGAAAGAGAACCTCAACTGTGGGGTATTGACGTCATTG GAAAGAGAGCCTCAACTGTGGAATATTGATGTCATTGGAAAGAGAACCTC AACTGTGGGGTATTGACGTCATTGGAAAGAGAACCTCAACCGTGGAGTAT TGACATCATTGGAAAGAGAACCTCAACTGTGGGGTATTGACGTCGTTGGA AAGAGAACCTCC	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		4634		chr10	TogoVar
KNDC1_chr10_133155219_133231412	133155658	A A	AACCGTGG others(289): Show AACCGTGGAGTATTGACATCATTGGAAAGAGAACCTCAACTGTGGGGTAT TGACGTCGTTGGAAAGAGAACCTCCACTGTGGAGTATTGACGTCATTGGA AAGAGAACCTCAACTGTGGGGTATTGACGTCATTGGAAAGAGAACCTCAA CTGTGGAGTATTGATGTCATTGGAAAGAGAACCTCAACTGTGGAGTATTG ACGTCATTGGAAAGAGAACCTCAACTGTGGAGTATTGACATCATTGGAAA GAGAACCTCAACTGTGGGGTATTGACGTCGTTGGAAAGAGAACCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0209 a0003c0011t0001g0209	1	266	0.0038	296	c.-48 others(307): Show c.-4810_-4809insACCGTGGAGTATTGACATCATTGGAAAGAGAACC TCAACTGTGGGGTATTGACGTCGTTGGAAAGAGAACCTCCACTGTGGAGT ATTGACGTCATTGGAAAGAGAACCTCAACTGTGGGGTATTGACGTCATTG GAAAGAGAACCTCAACTGTGGAGTATTGATGTCATTGGAAAGAGAACCTC AACTGTGGAGTATTGACGTCATTGGAAAGAGAACCTCAACTGTGGAGTAT TGACATCATTGGAAAGAGAACCTCAACTGTGGGGTATTGACGTCGTTGGA AAGAGAACCTCC	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		4560		chr10	TogoVar
KNDC1_chr10_133155219_133231412	133155843	C C	CACTGTGG others(289): Show CACTGTGGAGTATTGACGTCATTGGAAAGAGAACCTCAACTGTGGGGTAT TGACGTCATTGGAAAGAGAACCTCAACTGTGGAGTATTGATGTCATTGGA AAGAGAACCTCAACTGTGGAGTATTGACGTCATTGGAAAGAGAACCTCAA CTGTGGAGTATTGACATCATTGGAAAGAGAACCTCAACTGTGGGGTATTG ACGTCGTTGGAAAGAGAACCTCCACTGTGGAGTATTGACGTCATTGGAAA GAGAACCTCAACTGTGGGGTATTGACGTCATTGGAAAGAGAACCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 NA19043.hp1 HG03453.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	2	189	0.0106	296	c.-46 others(307): Show c.-4625_-4624insACTGTGGAGTATTGACGTCATTGGAAAGAGAACC TCAACTGTGGGGTATTGACGTCATTGGAAAGAGAACCTCAACTGTGGAGT ATTGATGTCATTGGAAAGAGAACCTCAACTGTGGAGTATTGACGTCATTG GAAAGAGAACCTCAACTGTGGAGTATTGACATCATTGGAAAGAGAACCTC AACTGTGGGGTATTGACGTCGTTGGAAAGAGAACCTCCACTGTGGAGTAT TGACGTCATTGGAAAGAGAACCTCAACTGTGGGGTATTGACGTCATTGGA AAGAGAACCTCA	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		4375		chr10	TogoVar
KNDC1_chr10_133155219_133231412	133222094	C C	CAACAGGG others(289): Show CAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATTGGTTGAACCCGGGAGGCGGAGGCTGCAGTGAGTTGAGATCGCGCCA CTGCCCTCCAGCCTGGGTGAAGAGAGTGAAACAGTGTCTTAAAAAAAAAA AAAAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTGTGAGAGG CCGAGGCAGGCGGATCACAAGGTCAGGAGATCGAGACCATCCCGGCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02109.hp2 HG02572.hp2 others(2): Show HG00735.hp2 HG02109.hp2 HG02572.hp2 HG02615.hp1 NA18906.hp2	a0001 a0003 a0022 a0001 a0003 a0022	a0001c0001 a0003c0015 a0003c0049 others(1): Show a0001c0001 a0003c0015 a0003c0049 a0022c0055	a0001c0001t0002 a0003c0015t0002 a0003c0015t0022 others(2): Show a0001c0001t0002 a0003c0015t0002 a0003c0015t0022 a0003c0049t0002 a0022c0055t0002	a0001c0001t0002g0246 a0003c0015t0002g0237 a0003c0015t0022g0110 others(2): Show a0001c0001t0002g0246 a0003c0015t0002g0237 a0003c0015t0022g0110 a0003c0049t0002g0111 a0022c0055t0002g0240	5	282	0.0177	296	c.501 others(315): Show c.5018+1986_5018+1987insGGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATTGGTTGAACCCGGGAGGCGGAGGCTGCA GTGAGTTGAGATCGCGCCACTGCCCTCCAGCCTGGGTGAAGAGAGTGAAA CAGTGTCTTAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCATGCCTGTA ATCCCAGCACTGTGAGAGGCCGAGGCAGGCGGATCACAAGGTCAGGAGAT CGAGACCATCCCGGCTAACA	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KPNA1_chr3_122416902_122519939	122439505	C C	CAAAAGAG others(289): Show CAAAAGAGTTCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18747.hp2 NA18969.hp2 HG02015.hp2 NA18747.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0301 a0001c0001t0003g0317 a0001c0001t0003g0333 a0001c0001t0003g0301 a0001c0001t0003g0317 a0001c0001t0003g0333	3	356	0.0084	296	c.997 others(313): Show c.997-2211_997-2210insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTAC CACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGAACTCTTTT	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	10/13			chr3	TogoVar
KRT82_chr12_52388931_52411335	52409043	C C	CCTCCTCT others(289): Show CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCCTCTCCCTCACTCTCCTCTCCCTCACTCTCCCTCTCCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	85	0.0118	296	c.-27 others(307): Show c.-2767_-2766insTGAGGGAGAGGGAGAGTGAGGGAGAGGAGAGTGA GGGAGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2709		chr12	TogoVar
LHPP_chr10_124456823_124619141	124471560	A A	ATATATTT others(289): Show ATATATTTATATATATTTATATATATTTATATATATATTTTTATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATTTATATAT ATATTTATATATATATTTATATATATATTTATATATATTTATATATATAT ATTTTTATATATATTTATATATATTTTTATATATAGTTATATATATTTAT ATATAGTTATATATATTTATATATAGTTATGTATAGTTATATATAGTTAT ATATATAGTTATATATAGTTATATATATAGTTATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	216	0.0046	296	c.125 others(313): Show c.125+9578_125+9579insTTATATATATTTATATATATTTATATAT ATATTTTTATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATTTATATATATATTTATATATATATTTATATATATATTTATAT ATATTTATATATATATATTTTTATATATATTTATATATATTTTTATATAT AGTTATATATATTTATATATAGTTATATATATTTATATATAGTTATGTAT AGTTATATATAGTTATATATATAGTTATATATAGTTATATATATAGTTAT ATATATATATTTTTATAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507458	A A	ATAGGGAG others(289): Show ATAGGGAGTATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGG TAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGAT AGGGAGTATTTCAGGTGGGGAGGGTAGACAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	107	0.0093	296	c.624 others(313): Show c.624+9337_624+9338insTATTTCAGGTGTGGAGGGTAGACAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATT TCAGGTGGGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATT TCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAGACAGGATTT CAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTC AGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCA GGTGGGGAGGGTAGGGAG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364445	A A	ACACCCAC others(289): Show ACACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCAC ACTTACACTCATGCTTACATCTACCTCCACACCCGCGCTTACACCCACGC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	252	0.0040	296	c.129 others(313): Show c.1290-969_1290-968insTACACCCACGCTTACATCTACCTCCACA CCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCA CACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTC CACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACC TCCACGCCCACACTTACACTCATGCTTACATCTACCTCCACACCCGCGCT TACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACA CTTACACCCACCCACACT	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC37A3_chr17_64849130_64924478	64912240	T T	TATGCAGA others(289): Show TATGCAGATATACATCTACATACATACACAATGTATGCATGTAGATATAC ATCTACATACATACACAATGTATGCATGTAGATATACATCTACATACATA CACAATGTATGCATGTAGATATACATCTACATACATACACAATGTATGCA TGTAGATATACATCTACATACATACACAATGTATGCATGTAGATATACAT CTACATACATACACAATGTATGCATGTAGATATACATCTACATACATACA CAATGTATGCATGTAGATATACATCTACATACATACACAATGTATGC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0119 a0003c0003t0001g0119	1	37	0.0270	296	c.-49 others(315): Show c.-496+6509_-496+6510insGCATACATTGTGTATGTATGTAGATG TATATCTACATGCATACATTGTGTATGTATGTAGATGTATATCTACATGC ATACATTGTGTATGTATGTAGATGTATATCTACATGCATACATTGTGTAT GTATGTAGATGTATATCTACATGCATACATTGTGTATGTATGTAGATGTA TATCTACATGCATACATTGTGTATGTATGTAGATGTATATCTACATGCAT ACATTGTGTATGTATGTAGATGTATATCTACATGCATACATTGTGTATGT ATGTAGATGTATATCTGCAT	LRRC37A3	ENSG00000176809.11	transcript	ENST00000584306.6	protein_coding	2/14			chr17	TogoVar
LRRC37A3_chr17_64849130_64924478	64912240	T T	TATGTAGA others(289): Show TATGTAGATATACATCTACATACATACACAATGTATGCATGTAGATATAC ATCTACATACATACACAATGTATGCATGTAGATATACATCTACATACATA CACAATGTATGCATGTAGATATACATCTACATACATACACAATGTATGCA TGTAGATATACATCTACATACATACACAATGTATGCATGTAGATATACAT CTACATACATACACAATGTATGCATGTAGATATACATCTACATACATACA CAATGTATGCATGTAGATATACATCTACATACATACACAATGTATGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0022 a0022	a0022c0018 a0022c0018	a0022c0018t0003 a0022c0018t0003	a0022c0018t0003g0131 a0022c0018t0003g0131	1	37	0.0270	296	c.-49 others(315): Show c.-496+6509_-496+6510insGCATACATTGTGTATGTATGTAGATG TATATCTACATGCATACATTGTGTATGTATGTAGATGTATATCTACATGC ATACATTGTGTATGTATGTAGATGTATATCTACATGCATACATTGTGTAT GTATGTAGATGTATATCTACATGCATACATTGTGTATGTATGTAGATGTA TATCTACATGCATACATTGTGTATGTATGTAGATGTATATCTACATGCAT ACATTGTGTATGTATGTAGATGTATATCTACATGCATACATTGTGTATGT ATGTAGATGTATATCTACAT	LRRC37A3	ENSG00000176809.11	transcript	ENST00000584306.6	protein_coding	2/14			chr17	TogoVar
LTBP1_chr2_32941953_33404509	33179655	T T	TAGAAATT others(289): Show TAGAAATTTAATTAGCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATG AGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGG AGCCTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0011 a0001c0013t0011	a0001c0013t0011g0067 a0001c0013t0011g0067	1	149	0.0067	296	c.120 others(315): Show c.1202-7187_1202-7186insCCAGCACTTTGGGAGGCCGAGGCGGG TGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAAGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGT CCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAGAAATTTAATTAG	LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr2	TogoVar
LUZP2_chr11_24492053_25087638	25052750	A A	ACTTAATT others(289): Show ACTTAATTTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACAGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTC GGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	114	0.0088	296	c.858 others(313): Show c.858+2637_858+2638insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACAGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAA TCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTTAATTTCATTTTTTT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LYAR_chr4_4262701_4295154	4281315	A A	AAGAACTT others(289): Show AAGAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAACTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	425	0.0024	296	c.237 others(311): Show c.237+467_237+468insCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCG GGCGCCTGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAGTTCT	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding	4/9			chr4	TogoVar
LYAR_chr4_4262701_4295154	4281315	A A	AAGAACTT others(289): Show AAGAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0157 a0005c0011t0001g0157	1	425	0.0024	296	c.237 others(311): Show c.237+467_237+468insCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCG GGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAGTTCT	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding	4/9			chr4	TogoVar
MACROD2_chr20_13990516_16058197	15158678	G G	GAAAATCT others(289): Show GAAAATCTCATACTCAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	1	24	0.0417	296	c.419 others(315): Show c.419-71247_419-71246insATCCCAGCACTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGG CGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAATCTCATACTCA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MALRD1_chr10_19043801_19739478	19497366	C C	CAAGAAGC others(289): Show CAAGAAGCAATAGATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGT GGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTC CGGCCTGGGCGACAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0018 a0018	a0018c0026 a0018c0026	a0018c0026t0001 a0018c0026t0001	a0018c0026t0001g0055 a0018c0026t0001g0055	1	98	0.0102	296	c.515 others(315): Show c.5159-1105_5159-1104insCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAA GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAG TCCGCAGTCCGGCCTGGGCGACAAAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAGAAGCAATAGAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	30/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAML2_chr11_95971598_96348195	96042529	T T	TAAAATCC others(289): Show TAAAATCCCAATTTCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0223 a0001c0002t0011g0223	1	225	0.0044	296	c.213 others(317): Show c.2139+49362_2139+49363insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGAAATTGGGATTTT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MED15_chr22_20502610_20592619	20521096	T T	TTTTTTTT others(289): Show TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TTTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01070.hp1 others(9): Show HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01258.hp2 HG01515.hp1 HG01517.hp1 HG03491.hp2 HG03654.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0006 a0005c0007 a0001c0001 a0001c0006 a0005c0007	a0001c0001t0001 a0001c0001t0006 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0006t0001 a0005c0007t0001	a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0276 others(9): Show a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0290 a0001c0001t0006g0278 a0001c0001t0006g0282 a0001c0006t0001g0133 a0001c0006t0001g0136 a0005c0007t0001g0277 a0005c0007t0001g0279	12	340	0.0353	296	c.68+ others(313): Show c.68+13365_68+13366insGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCTTTTTTTTTTTTTTT	MED15	ENSG00000099917.17	transcript	ENST00000263205.11	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr22	TogoVar
METRNL_chr17_83074609_83100122	83090485	A A	ACCCCCGC others(289): Show ACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCA CACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCAC ACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCC CACCCCCCGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCACACACAC ACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCC CCGCCCCAGGGTGGGAGCCACACACACACCCCGCCCCACACACACAC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0062 a0001c0015t0001g0062	1	259	0.0039	296	c.557 others(313): Show c.557-2651_557-2650insGCCCCAGGGTGGGAGCCACACACCCCCG CCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCACACACACACAC CCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGC CCCAGGGTGGGAGCCACACACACCCCCGCCCCACACACACACACCCCCGC CCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGG GTGGGAGCCACACACACACCCCGCCCCACACACACACCCCCCGCCCCACA CACACACACCCCCGCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MPPED1_chr22_43407014_43512848	43432640	A A	AGGGAGGA others(289): Show AGGGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAG GAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	64	0.0156	296	c.225 others(313): Show c.225-2393_225-2392insGGAGGAGAGAGAGGGAAAGAGAGAGAGA AGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAG AGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED2_chr11_30405224_30591353	30557225	A A	AATATATA others(289): Show AATATATATATATTATATATATTATATAATAAATATATATATAATATATA TATAATATATATATTATATATATTATATATAATATATATTATATATATAA TATATATATAATATATATATTATATATATATAATATATATATTATATATA TTATATATAATATATATTATATATATAATATATATATAATATATATATTA TATATATATAATATATATATTATATATATTATATATAATATATATTATAT ATATAATATATATATAATATATATATTATATATATAATATATATATT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0152 a0001c0001t0007g0152	1	235	0.0043	296	c.129 others(315): Show c.129-21051_129-21050insAATATATATATTATATATATAATATA TATATTATATATATATTATATATATAATATATATTATATATAATATATAT AATATATATATTATATATATATAATATATATATTATATATATATTATATA TATAATATATATTATATATAATATATATAATATATATATTATATATATAT AATATATATATTATATATATATTATATATATAATATATATTATATATAAT ATATATAATATATATATTATATATATATTATATATATATTTATTATATAA TATATATAATATATATATAT	MPPED2	ENSG00000066382.17	transcript	ENST00000358117.10	protein_coding	2/6			chr11	TogoVar

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