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
RPA3_chr7_7631518_7723607	7679372	T T	TACATGTT others(393): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	85	0.0118	400	c.-75 others(419): Show c.-758+6457_-758+6458insTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAA ATATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTA TCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAA ATTAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATAT ATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAAT ATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATC TATAAACTAAATATATAAACATGT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	235955	T T	TTCAAATT others(393): Show TTCAAATTTGGGGTCGGCCGAGGCTCTGCACTAACAAGACGGATCCAGGG TTCAAAGCTGGGGTCGGCCGAGGCTCCGCAGTAACAAGACGGGTCCAGGG TTCAAAGCTGGGGTCGGCGGAGGCTCTACACTAACAAGACGGATCCAGGG TTCAAAGCTGGGGTCGGCGGAGGCTCCGCAGTAACAAGACGGGTCCAGGG TTCAAAGCTGGGGTCGGCGGAGGCTCCGCAGTAACAAGACGGGTCCAGGG TTCAAAGCTGGGGTCGGCGGAGGCTCCGCAGTAACAAGACGGGTCCCGGG TTCAAAGCTGGGGTCGGCGGAGGCTCCGCAGTAACAAGACGGGTCCAGGG TTCAAAGCTGGGGTCGGCCAAGGCTCCACACTAACGAGACGGGTCCATGG G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01978.hp2 HG02080.hp2 others(4): Show HG00280.hp2 HG01978.hp2 HG02080.hp2 NA18612.hp2 NA18999.hp2 NA19003.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0014 a0001c0001t0037	a0001c0001t0001g0065 a0001c0001t0002g0078 a0001c0001t0003g0052 others(4): Show a0001c0001t0001g0065 a0001c0001t0002g0078 a0001c0001t0003g0052 a0001c0001t0004g0039 a0001c0001t0012g0006 a0001c0001t0014g0023 a0001c0001t0037g0058	7	126	0.0556	400	c.613 others(419): Show c.613+11155_613+11156insCCCATGGACCCGTCTCGTTAGTGTGG AGCCTTGGCCGACCCCAGCTTTGAACCCTGGACCCGTCTTGTTACTGCGG AGCCTCCGCCGACCCCAGCTTTGAACCCGGGACCCGTCTTGTTACTGCGG AGCCTCCGCCGACCCCAGCTTTGAACCCTGGACCCGTCTTGTTACTGCGG AGCCTCCGCCGACCCCAGCTTTGAACCCTGGACCCGTCTTGTTACTGCGG AGCCTCCGCCGACCCCAGCTTTGAACCCTGGATCCGTCTTGTTAGTGTAG AGCCTCCGCCGACCCCAGCTTTGAACCCTGGACCCGTCTTGTTACTGCGG AGCCTCGGCCGACCCCAGCTTTGAACCCTGGATCCGTCTTGTTAGTGCAG AGCCTCGGCCGACCCCAAATTTGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	235955	T T	TTCAAATT others(393): Show TTCAAATTTGGGGTCGGCCGAGGCTCTGCACTGACAAGACGGATCCAGGG TTCAAAGCTGGGGTCGGCCGAGGCTCCGCAGTAACAAGACGGGTCCAGGG TTCAAAGCTGGGGTCGGCGGAGGCTCTACACTAACAAGACGGATCCAGGG TTCAAAGCTGGGGTCGGCGGAGGCTCCGCAGTAACAAGACGGGTCCAGGG TTCAAAGCTGGGGTCGGCGGAGGCTCCGCAGTAACAAGACGGGTCCAGGG TTCAAAGCTGGGGTCGGCGGAGGCTCCGCAGTAACAAGACGGGTCCCGGG TTCAAAGCTGGGGTCGGCGGAGGCTCCGCAGTAACAAGACGGGTCCAGGG TTCAAAGCTGGGGTCGGCCAAGGCTCCACACTAACGAGACGGGTCCATGG G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0005 a0002c0012t0005	a0002c0012t0005g0020 a0002c0012t0005g0020	1	120	0.0083	400	c.613 others(419): Show c.613+11155_613+11156insCCCATGGACCCGTCTCGTTAGTGTGG AGCCTTGGCCGACCCCAGCTTTGAACCCTGGACCCGTCTTGTTACTGCGG AGCCTCCGCCGACCCCAGCTTTGAACCCGGGACCCGTCTTGTTACTGCGG AGCCTCCGCCGACCCCAGCTTTGAACCCTGGACCCGTCTTGTTACTGCGG AGCCTCCGCCGACCCCAGCTTTGAACCCTGGACCCGTCTTGTTACTGCGG AGCCTCCGCCGACCCCAGCTTTGAACCCTGGATCCGTCTTGTTAGTGTAG AGCCTCCGCCGACCCCAGCTTTGAACCCTGGACCCGTCTTGTTACTGCGG AGCCTCGGCCGACCCCAGCTTTGAACCCTGGATCCGTCTTGTCAGTGCAG AGCCTCGGCCGACCCCAAATTTGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RXRA_chr9_134321455_134445585	134444377	C C	CCCTCCTT others(393): Show CCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCT CCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCT CCTTCCCCCTCCCTCCTTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCT CCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTT CCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTT CCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTT CCCTCTCCCTCCTTCCCCCTCCCTCCTCCCTTCCCCCTCCCTCTTCCCTT CCCCCTCCCTCCTCCCTTCCCCCCTCCTCCCTTCCCCCTCCCTCCTTCCT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01346.hp1 HG01978.hp1 others(1): Show HG00597.hp1 HG01346.hp1 HG01978.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0015 a0001c0001t0002g0045 a0001c0001t0021g0047 others(1): Show a0001c0001t0002g0015 a0001c0001t0002g0045 a0001c0001t0021g0047 a0001c0001t0021g0106	4	8	0.5000	400	c.77 others(411): Show c.7763_*7764insCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCC TCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCT TCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCCCTCCCTCCT TCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCT TCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCT TCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCC CCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTCCCTTCCC CCTCCCTCTTCCCTTCCCCCTCCCTCCTCCCTTCCCCCCTCCTCCCTTCC CCCTCCCTCCTTCCTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3793		chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78430208	T T	TATAAATA others(393): Show TATAAATACTGTGTTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACAGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACAGTATTTATAAATAAATACTGT ATTTATAAATAAATACAGTATTTATAAATAAATACAGTATTTATAAATAC A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02976.hp1 HG02922.hp1 HG02976.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0020 a0004c0005t0020 a0001c0001t0020 a0004c0005t0020	a0001c0001t0020g0325 a0004c0005t0020g0327 a0001c0001t0020g0325 a0004c0005t0020g0327	2	332	0.0060	400	c.632 others(417): Show c.632+8256_632+8257insTGTGTTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACAGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACAGTATTTAT AAATAAATACTGTATTTATAAATAAATACAGTATTTATAAATAAATACAG TATTTATAAATACAATAAATAC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCNN1D_chr1_1275436_1297025	1288867	T T	TCCCCCGT others(393): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG T	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0257 a0001c0001t0005g0257	1	251	0.0040	400	c.166 others(417): Show c.1662+833_1662+834insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289928	C C	CCCCGTGT others(393): Show CCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG T	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	259	0.0039	400	c.166 others(417): Show c.1663-330_1663-329insCCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444904	T T	TACACATA others(393): Show TACACATATATACGTACGAATATATATACACATATATACGTACGAATATA TATACACATATATACGTACGAATATATATACACATATATACGTACGAATA TATATACACATATATACGTACGAATATATATACACATATATTCGTACGAA TATATATACACATATATTCGTACGAATATATATACACATATATTCGTACG AATATACACACATATATTCGTACGAATATACACACATATATTCGTACGAA TATACACACATATATTCGTACGAATATACACACATATATTCGTACGAATA TACACACATATATTCGTACGAATATACACACATATATTCGTACGAATATA CACACATATATTCGTACGAATATACACACATATATTCGTACGAATATACA C	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0038 a0001c0002t0004g0038	1	248	0.0040	400	c.114 others(419): Show c.1140+1854_1140+1855insGTGTATATTCGTACGAATATATGTGT GTATATTCGTACGAATATATGTGTGTATATTCGTACGAATATATGTGTGT ATATTCGTACGAATATATGTGTGTATATTCGTACGAATATATGTGTGTAT ATTCGTACGAATATATGTGTGTATATTCGTACGAATATATGTGTGTATAT TCGTACGAATATATGTGTGTATATTCGTACGAATATATGTGTATATATAT TCGTACGAATATATGTGTATATATATTCGTACGAATATATGTGTATATAT ATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGTATAT ATATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGTAT ATATATTCGTACGTATATATGTGT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(393): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGC TGCCACGCAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGGGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGA GGCTGCCACGCAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGGGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGC T	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0030 a0030	a0030c0086 a0030c0086	a0030c0086t0046 a0030c0086t0046	a0030c0086t0046g0012 a0030c0086t0046g0012	1	63	0.0159	400	c.199 others(419): Show c.1994+2071_1994+2072insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGGGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGGGGGTCCTCCAGA GAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977201	C C	CCACACAG others(393): Show CCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGG CTGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCAGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0020 a0001c0027t0020	a0001c0027t0020g0087 a0001c0027t0020g0087	1	67	0.0149	400	c.199 others(419): Show c.1994+2656_1994+2657insCACACAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCAGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977201	C C	CCACGCAG others(393): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0005 a0005	a0005c0065 a0005c0065	a0005c0065t0037 a0005c0065t0037	a0005c0065t0037g0065 a0005c0065t0037g0065	1	67	0.0149	400	c.199 others(419): Show c.1994+2656_1994+2657insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977201	C C	CCACGCAG others(393): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGA GGCTGCCATGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGC T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0060 a0001c0010t0060	a0001c0010t0060g0017 a0001c0010t0060g0017	1	67	0.0149	400	c.199 others(419): Show c.1994+2656_1994+2657insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGATCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGGGGGTCCCGGGGCTGAGGCTGCCATGCAGAGGGTCCTCCAGAG AATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(393): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATTCCATATATATATATATTCCATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATTCCATATATATATATATTCCATATATATATATT CCATATATATATATTCCATATATATATATATTCCATATATATATATTCCA T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	230	0.0043	400	c.115 others(417): Show c.115-2573_115-2572insATGGAATATATATATATGGAATATATAT ATATATGGAATATATATATATGGAATATATATATATGGAATATATATATA TATGGAATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TGGAATATATATATATATGGAATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(393): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATTCCATATATATATATA TTCCATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATT CCATATATATATATATTCCATATATATATATTCCATATATATATATTCCA T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	230	0.0043	400	c.115 others(417): Show c.115-2573_115-2572insATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATATGGAATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATGGAATATATATATATATGGAATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SH3D19_chr4_151115281_151330605	151256047	A A	AGAGGGAG others(393): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	273	0.0037	400	c.113 others(419): Show c.113-29962_113-29961insCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTC	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	1/19			chr4	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	T T	TAGCAGGG others(393): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02040.hp2 HG04184.hp2 others(2): Show HG01081.hp2 HG02040.hp2 HG04184.hp2 NA19003.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0020 a0001c0001t0099 others(2): Show a0001c0001t0004 a0001c0001t0020 a0001c0001t0099 a0001c0002t0003 a0001c0002t0008	a0001c0001t0004g0217 a0001c0001t0020g0157 a0001c0001t0099g0367 others(2): Show a0001c0001t0004g0217 a0001c0001t0020g0157 a0001c0001t0099g0367 a0001c0002t0003g0218 a0001c0002t0008g0234	5	125	0.0400	400	c.-32 others(417): Show c.-32-1637_-32-1636insGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SLC12A7_chr5_1045384_1117063	1099388	A A	AGCAGGGC others(393): Show AGCAGGGCCCGACCCGGTCCACCTCCTCTGGGGCACGGACATCAACCCAG CCCCGACCCAGTCCACCTCCTCCGGGGGACGGCAGGGCCCGACCCGGTCC ACCTCCTCTGGGGCACGGACATCAACCCAGCCCCGACCCAGTCCACCTCC TCCGGGGGACGGCAGGGCCCGACCCGGTCCACCTCCTCTGGGGCACGGAC ATCAACCCAGCCCCGACCCAGTCCACCTCCTCCGGGGGACGGCAGGGCCC GACCCGGTCCACCTCCTCTGGGGCACGGACATCAACCCAGCCCCGAGCCA GTCCACCTCCTCCGGGGGACGGCAGGGCCCGACCCGGTCCACCTCCTCTG GGGCACGGACATCAACCCAGCCCCGACCCAGTCCACCTCCTCCGGGGGAC G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0004 a0002c0025t0004	a0002c0025t0004g0061 a0002c0025t0004g0061	1	58	0.0172	400	c.125 others(417): Show c.125-5141_125-5140insCGTCCCCCGGAGGAGGTGGACTGGGTCG GGGCTGGGTTGATGTCCGTGCCCCAGAGGAGGTGGACCGGGTCGGGCCCT GCCGTCCCCCGGAGGAGGTGGACTGGCTCGGGGCTGGGTTGATGTCCGTG CCCCAGAGGAGGTGGACCGGGTCGGGCCCTGCCGTCCCCCGGAGGAGGTG GACTGGGTCGGGGCTGGGTTGATGTCCGTGCCCCAGAGGAGGTGGACCGG GTCGGGCCCTGCCGTCCCCCGGAGGAGGTGGACTGGGTCGGGGCTGGGTT GATGTCCGTGCCCCAGAGGAGGTGGACCGGGTCGGGCCCTGCCGTCCCCC GGAGGAGGTGGACTGGGTCGGGGCTGGGTTGATGTCCGTGCCCCAGAGGA GGTGGACCGGGTCGGGCCCTGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422792	C C	CCACGCTG others(393): Show CCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACTGCCCAAGGTGCTGG GTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCT GCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCAGTGCTGCCC ACGCTGCTGGGTGCCCACCGATGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGC CCACAGTACTGCCCAAGGTGCTGGGTAACCACCGCTGCCCACAGTGCTGC T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	372	0.0027	400	c.654 others(415): Show c.654-779_654-778insAGCAGCACTGTGGGCAGCGGTGGTTACCCA GCACCTTGGGCAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCA GCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCA TCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGCACCCA GCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCA GCGGTGGGCACCCAGCACCGTGGGCAGCACTGGGCAGCGGTGGGTACCCA GCAGCGTGGGCAGCACTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGC ACTGTGGGCAGCGGTGGGCACCCAGCACCTTGGGCAGTACTGTGGGCAGC GGTGGGCACCCAGCAGCGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	92143358	C C	CATATATA others(393): Show CATATATATATTATATAATATATATATAAAATATATATATATTATATAAT ATATATATAAAATATATATATATTATATATAAAATATATATATTATATAA TATATATATAAAATATATATATTATATAATATATATATAAAATATATATA TTATATAATATATATATAAAATATATATATTATATAATATATATATAAAA TATATATATTATATAATATATGTAATATTATATATAATATATATATTATA TATATTATATATTATATATATTATATATATTATATATAATATATATTATA TATTATATATATTATATATATTATATATAATATATTATATATAATATATA TAATATATATAATATATATATTATATATAATATATATAATATATATAAAA A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0132 a0001c0001t0005g0132	1	25	0.0400	400	c.151 others(419): Show c.1513-3601_1513-3600insTAAAATATATATATATTATATAATAT ATATATAAAATATATATATATTATATATAAAATATATATATTATATAATA TATATATAAAATATATATATTATATAATATATATATAAAATATATATATT ATATAATATATATATAAAATATATATATTATATAATATATATATAAAATA TATATATTATATAATATATGTAATATTATATATAATATATATATTATATA TATTATATATTATATATATTATATATATTATATATAATATATATTATATA TTATATATATTATATATATTATATATAATATATTATATATAATATATATA ATATATATAATATATATATTATATATAATATATATAATATATATAAAAAA TATATATATTATATAATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD2_chr18_47803957_47935659	47850817	T T	TATTATAT others(393): Show TATTATATATTATATATATATTATATATATTATGTATAATATATATTATA TATTATATATATATTATATATATTATGTATAATATATATTATATATTATA TATATATTATATATATTATGTATAATATATATTATATATTATATATATAT TATATATATTATGTATAATATATATTATATATTATATATATATTATATAT ATTATGTATAATATATATTATATATTATATATATATTATATATATTATGT ATAATATATATTATATATTATATATATATTATATATATTATGTATAATAT ATATTATATATTATATATATATTATATATATTATGTATAATATATATTAT ATATTATATATATATTATATATATTATGTATAATATATATTATATATTAT A	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0129 a0001c0001t0129	a0001c0001t0129g0203 a0001c0001t0129g0203	1	191	0.0052	400	c.784 others(415): Show c.784+456_784+457insTATAATATATAATATATATTATACATAATA TATATAATATATATATAATATATAATATATATTATACATAATATATATAA TATATATATAATATATAATATATATTATACATAATATATATAATATATAT ATAATATATAATATATATTATACATAATATATATAATATATATATAATAT ATAATATATATTATACATAATATATATAATATATATATAATATATAATAT ATATTATACATAATATATATAATATATATATAATATATAATATATATTAT ACATAATATATATAATATATATATAATATATAATATATATTATACATAAT ATATATAATATATATATAATATATAATATATATTATACATAATATATATA ATATATATATAATATATAAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMIM36_chr17_55444856_55516452	55501102	A A	ATTATAAT others(393): Show ATTATAATATATAATATATATTATATTTTATATTATAATATATAATATAC ATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATGATATATAATATACATTATATTTTATGATATATA ATATACATTATATTTTATGATATATAATATACATTATATTTTATGATATA TAATATATATTATATTTTATGATATATAATATATATTATATTTTATGATA TATAATATATATTATATTTTATGATATATAATATATATTATATTTTATGA TATATATTATATATTATATTTTATGATATATAATATATTTTATATTTTAT G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02055.hp1 NA18974.hp2 others(1): Show HG01071.hp1 HG02055.hp1 NA18974.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009	a0001c0001t0003g0164 a0001c0001t0003g0178 a0001c0001t0004g0018 others(1): Show a0001c0001t0003g0164 a0001c0001t0003g0178 a0001c0001t0004g0018 a0001c0001t0009g0186	4	204	0.0196	400	c.17 others(419): Show c.174+9776_*174+9777insCATAAAATATAAAATATATTATATAT CATAAAATATAATATATAATATATATCATAAAATATAATATATATTATAT ATCATAAAATATAATATATATTATATATCATAAAATATAATATATATTAT ATATCATAAAATATAATATATATTATATATCATAAAATATAATGTATATT ATATATCATAAAATATAATGTATATTATATATCATAAAATATAATGTATA TTATATATCATAAAATATAATGTATATTATATATCATAAAATATAATGTA TATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAATG TATATTATATATCATAAAATATAATGTATATTATATATTATAATATAAAA TATAATATATATTATATATTATAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501102	A A	ATTATAAT others(393): Show ATTATAATATATAATATATATTATATTTTATATTATAATATATAATATAC ATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATGATATATAATATACATTATATTTTATGATATATA ATATACATTATATTTTATGATATATAATATATATTATATTTTATGATATA TAATATACATTATATTTTATGATATATAATATATATTATATTTTATGATA TATAATATATATTATATTTTATGATATATAATATATATTATATTTTATGA TATATATTATATATTATATTTTATGATATATAATATATTTTATATTTTAT G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	201	0.0050	400	c.17 others(419): Show c.174+9776_*174+9777insCATAAAATATAAAATATATTATATAT CATAAAATATAATATATAATATATATCATAAAATATAATATATATTATAT ATCATAAAATATAATATATATTATATATCATAAAATATAATATATATTAT ATATCATAAAATATAATGTATATTATATATCATAAAATATAATATATATT ATATATCATAAAATATAATGTATATTATATATCATAAAATATAATGTATA TTATATATCATAAAATATAATGTATATTATATATCATAAAATATAATGTA TATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAATG TATATTATATATCATAAAATATAATGTATATTATATATTATAATATAAAA TATAATATATATTATATATTATAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMOC2_chr6_168436184_168672992	168498733	G G	GGCCAGGG others(393): Show GGCCAGGGCCCATAGCCTGTCTACTGCACATGGAAACCCTGGGTCCTCCC AGCCCTACGAGTCAGAGTCTCTGGGGGGATGGCCAGGGCCCATAGCCTGT CTACTACACATGGAAACCCTGGGTCCTCCCAGCCCTACGAGTCAGAGTCT CTGGGGGGATGGCCAGGGCCCATAGCCTGTCTACTGCACATGGAAACCCT GGGTCCTCCCAGCCCTACGAGTCAGAGTCTCTGGGGGGATGGCCAGGGCC CATAGCCTGTCTACTACACATGGAAACCCTGGGTCCTCCCAGCCCTACGA GCCACAGTCTCTGGGGGGACAGCCAGGGCCCATAGCCTGTTTACTAAACA TGGAAACCCTGGGTCCTCCCAGCCCTACGAGCCACAGTCTCTGGGGGGAC A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01243.hp1 HG01891.hp2 others(21): Show HG00597.hp1 HG01243.hp1 HG01891.hp2 HG02083.hp2 HG02135.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02896.hp1 HG02970.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03834.hp1 NA18612.hp1 NA18941.hp1 NA18950.hp1 NA18951.hp2 NA19000.hp1 NA19000.hp2 NA19065.hp2 NA19068.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0010	a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0013 a0001c0004t0005 a0001c0007t0005 a0002c0010t0001	a0001c0001t0001g0095 a0001c0001t0001g0112 a0001c0001t0001g0159 others(21): Show a0001c0001t0001g0095 a0001c0001t0001g0112 a0001c0001t0001g0159 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0017 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0007g0053 a0001c0002t0013g0062 a0001c0004t0005g0048 a0001c0004t0005g0049 a0001c0004t0005g0051 a0001c0007t0005g0050 a0002c0010t0001g0130	24	138	0.1739	400	c.85- others(417): Show c.85-11042_85-11041insTCAGAGTCTCTGGGGGGATGGCCAGGGC CCATAGCCTGTCTACTGCACATGGAAACCCTGGGTCCTCCCAGCCCTACG AGTCAGAGTCTCTGGGGGGATGGCCAGGGCCCATAGCCTGTCTACTACAC ATGGAAACCCTGGGTCCTCCCAGCCCTACGAGCCACAGTCTCTGGGGGGA CAGCCAGGGCCCATAGCCTGTTTACTAAACATGGAAACCCTGGGTCCTCC CAGCCCTACGAGCCACAGTCTCTGGGGGGACAGCCAGGGCCCATAGCCTG TCTACTGCACATGGAAACCCTGGGTCCTCCCAGCCCTACGAGTCAGAGTC TCTGGGGGGATGGCCAGGGCCCATAGCCTGTCTACTACACATGGAAACCC TGGGTCCTCCCAGCCCTACGAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168498733	G G	GGCCAGGG others(393): Show GGCCAGGGCCCATAGCCTGTCTACTGCACATGGAAACCCTGGGTCCTCCC AGCCCTACGAGTCAGAGTCTCTGGGGGGATGGCCAGGGCCCATAGCCTGT CTACTACACATGGAAACCCTGGGTCCTCCCAGCCCTACGAGTCAGAGTCT CTGGGGGGATGGCCAGGGCCCATAGCCTGTCTACTGCACATGGAAACCCT GGGTCCTCCCAGCCCTACGAGTCAGAGTCTCTGGGGGGATGGCCAGGGCC CATAGCCTGTCTACTACACATGGAAACCCTGGGTCCTCCCAGCCCTATGA GCCACAGTCTCTGGGGGGACAGCCAGGGCCCATAGCCTGTTTACTAAACA TGGAAACCCTGGGTCCTCCCAGCCCTACGAGCCACAGTCTCTGGGGGGAC A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0005 a0001c0002t0014g0005	1	115	0.0087	400	c.85- others(417): Show c.85-11042_85-11041insTCAGAGTCTCTGGGGGGATGGCCAGGGC CCATAGCCTGTCTACTGCACATGGAAACCCTGGGTCCTCCCAGCCCTACG AGTCAGAGTCTCTGGGGGGATGGCCAGGGCCCATAGCCTGTCTACTACAC ATGGAAACCCTGGGTCCTCCCAGCCCTATGAGCCACAGTCTCTGGGGGGA CAGCCAGGGCCCATAGCCTGTTTACTAAACATGGAAACCCTGGGTCCTCC CAGCCCTACGAGCCACAGTCTCTGGGGGGACAGCCAGGGCCCATAGCCTG TCTACTGCACATGGAAACCCTGGGTCCTCCCAGCCCTACGAGTCAGAGTC TCTGGGGGGATGGCCAGGGCCCATAGCCTGTCTACTACACATGGAAACCC TGGGTCCTCCCAGCCCTACGAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	246072066	G G	GTTAGTTC others(393): Show GTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGAT GCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCAC TGTCGCTGCATCGTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCGCTG TGCTCACTGTCGCTGCATCGTGTTAGTTCTGGGGAGGGATTCGTGTGCTT TCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCG TGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAG GGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTC TGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTG T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03130.hp1 HG02717.hp1 HG03130.hp1	a0002 a0002	a0002c0008 a0002c0017 a0002c0008 a0002c0017	a0002c0008t0002 a0002c0017t0001 a0002c0008t0002 a0002c0017t0001	a0002c0008t0002g0142 a0002c0017t0001g0139 a0002c0008t0002g0142 a0002c0017t0001g0139	2	53	0.0377	400	c.532 others(421): Show c.532-142130_532-142129insACAGGAAGCATCCACAGTGAGCAC AGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAG TGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCA TCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACA GGAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGA ACTAACACGATGCAGCGACAGTGAGCACAGCGGAAAGCACACGAATCCCT CCCCAGAACTAACACGATGCAGCGACAGTGAGCACAGTGGAAAGCACACG AATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAA GCACACGAATCCCTCCCCAGAACTAA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1099589	C C	CAGTGAGG others(393): Show CAGTGAGGGCAGTGATGGTCAGGTCATCTGAAGGTGGGTGTGGTGAGGGC AGTGATGGTCAGGTCCTCTGAAGGTGGGTGTAGTGAGGGCAGTGATGGTC AGGTCCTCTGAAGGTGGGTGCAGTGAGGGCAGCGATGGTCAGGTCCTCTG AAGGTGGGTGTAGTGAGGGCAGTGATGGTCAGGTCCTCTGAAGGTGGGTG CGGTGAGGGCAGCGATGGTTCGGTCCTCTGAAGGTGGGTGCAGTGAGGGC AGTGATGGTCAGGTCCTCTAAAGGTGAGTGTGGTGAGGGCAGTGATGGTC AGGTCCTCTGAAGGTGGGTGTGGTGAGGGCAGTGATGGTCAGGTCCTCTG AAGGTGGGTGCAGTGAGGGCAGTGATGGTCAGGTCATCTGAAGGTGGGTG T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03453.hp2 HG03471.hp1 others(2): Show HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 NA20129.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0002 a0004c0014 a0005c0006 a0001c0002 a0004c0014 a0005c0006	a0001c0002t0001 a0001c0002t0002 a0004c0014t0002 others(1): Show a0001c0002t0001 a0001c0002t0002 a0004c0014t0002 a0005c0006t0002	a0001c0002t0001g0041 a0001c0002t0001g0069 a0001c0002t0002g0002 others(2): Show a0001c0002t0001g0041 a0001c0002t0001g0069 a0001c0002t0002g0002 a0004c0014t0002g0001 a0005c0006t0002g0003	5	44	0.1136	400	c.325 others(417): Show c.325+1203_325+1204insATCTGAAGGTGGGTGTGGTGAGGGCAGT GATGGTCAGGTCCTCTGAAGGTGGGTGTAGTGAGGGCAGTGATGGTCAGG TCCTCTGAAGGTGGGTGCAGTGAGGGCAGCGATGGTCAGGTCCTCTGAAG GTGGGTGTAGTGAGGGCAGTGATGGTCAGGTCCTCTGAAGGTGGGTGCGG TGAGGGCAGCGATGGTTCGGTCCTCTGAAGGTGGGTGCAGTGAGGGCAGT GATGGTCAGGTCCTCTAAAGGTGAGTGTGGTGAGGGCAGTGATGGTCAGG TCCTCTGAAGGTGGGTGTGGTGAGGGCAGTGATGGTCAGGTCCTCTGAAG GTGGGTGCAGTGAGGGCAGTGATGGTCAGGTCATCTGAAGGTGGGTGTAG TGAGGGCAGTGATGGTCAGGTC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1099590	A A	AGTGAGGG others(393): Show AGTGAGGGCAGTGATGGTCAGGTCATCTGAAGGTGGGTGTGGTGAGGGCA GTGATGGTCAGGTCCTCTGAAGGTGGGTGCAGTGAGGGCAGCGATGGTCA GGTCCTCTGAAGGTGGGTGTAGTGAGGGCAGTGATGGTCAGGTCCTCTGA AGGTGGGTGCGGTGAGGGCAGCGATGGTTCGGTCCTCTGAAGGTGGGTGC AGTGAGGGCAGTGATGGTCAGGTCCTCTAAAGGTGAGTGTGGTGAGGGCA GTGATGGTCAGGTCCTCTGAAGGTGGGTGTGGTGAGGGCAGTGATGGTCA GGTCCTCTGAAGGTGGGTGTGGTGAGGGCAGTGATGGTCAGGTCCTCTGA AGGTGGGTGCGGTGAGGGCAGTGATGGTCAGGTCCTCTGAAGGTGGGTGT G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG02922.hp2 others(2): Show HG01891.hp2 HG02559.hp2 HG02922.hp2 NA19030.hp1 NA19043.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0002c0033 a0003c0008 others(2): Show a0001c0001 a0002c0033 a0003c0008 a0005c0015 a0007c0016	a0001c0001t0001 a0002c0033t0001 a0003c0008t0001 others(2): Show a0001c0001t0001 a0002c0033t0001 a0003c0008t0001 a0005c0015t0001 a0007c0016t0001	a0001c0001t0001g0101 a0002c0033t0001g0126 a0003c0008t0001g0102 others(2): Show a0001c0001t0001g0101 a0002c0033t0001g0126 a0003c0008t0001g0102 a0005c0015t0001g0103 a0007c0016t0001g0005	5	158	0.0316	400	c.325 others(417): Show c.325+1203_325+1204insATCTGAAGGTGGGTGTGGTGAGGGCAGT GATGGTCAGGTCCTCTGAAGGTGGGTGCAGTGAGGGCAGCGATGGTCAGG TCCTCTGAAGGTGGGTGTAGTGAGGGCAGTGATGGTCAGGTCCTCTGAAG GTGGGTGCGGTGAGGGCAGCGATGGTTCGGTCCTCTGAAGGTGGGTGCAG TGAGGGCAGTGATGGTCAGGTCCTCTAAAGGTGAGTGTGGTGAGGGCAGT GATGGTCAGGTCCTCTGAAGGTGGGTGTGGTGAGGGCAGTGATGGTCAGG TCCTCTGAAGGTGGGTGTGGTGAGGGCAGTGATGGTCAGGTCCTCTGAAG GTGGGTGCGGTGAGGGCAGTGATGGTCAGGTCCTCTGAAGGTGGGTGTGG TGAGGGCAGTGATGGTCAGGTC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(393): Show AAGGGGAAGGGGGAAGGGGGGAGGGGGAGGTGGGAGGGGGAGGGGGAAGG GGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGGAGGGG GGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGGAACGGGGAGGGGAGATGGGGAGGGGGAG GGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGGAGG GGAGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGG AAGCGGGAACGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAG GGGGAACGGGGGAGGGGATATGGGGAGGGGGAGGGGGAGGGGGAAGCGGG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0027 a0003c0004t0027	a0003c0004t0027g0149 a0003c0004t0027g0149	1	12	0.0833	400	c.34 others(409): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATATCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCGTTCCCGCTTCCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCTC CCCCTCCCCCTCTCCCCTCCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCC CCTCCCCCTCCCCCCCTCCCCCTCCCCATCTCCCCTCCCCGTTCCCCGCT TCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCT CCCCCTCCCCCTCCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCGTTC CCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCC TTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPIRE2_chr16_89823475_89876319	89852352	C C	CCCGTCTT others(393): Show CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCATCC GTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCTTCTCTCTCACCCCCCGGATCCCATGA TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCTTCTCTCTCACCCCCCG GATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGA T	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0352	1	349	0.0029	400	c.645 others(417): Show c.645+1694_645+1695insGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGAT CCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCTTCTCTCT CACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCTTCTCTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCTCT CACCCCCCGGATCCCATGATCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852586	C C	CCCGTCTT others(393): Show CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCATCC GTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCTTCTCTCTCACCCCCCGGATCCCATGA T	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	321	0.0031	400	c.646 others(417): Show c.646-1698_646-1697insGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGAT CCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCTTCTCTCT CACCCCCCGGATCCCATGATCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852705	T T	TCCATCTT others(393): Show TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCTC TCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCC ATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	82	0.0122	400	c.646 others(417): Show c.646-1579_646-1578insATCTTCCATCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCA TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGGATCCCATGGCCCGTCTTCCGTCTTCTCTCTCACCCCCCGG ATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGGATCCCATGGCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852705	T T	TCCATCTT others(393): Show TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCTG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GCCCTCCCTCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTC TCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG CATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG C	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0278 a0002c0002t0002g0278	1	82	0.0122	400	c.646 others(417): Show c.646-1579_646-1578insATCTTCCATCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCTGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGCCCTCCCTCTCACCCCCCGGATCCCATGAT CCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGCATCCCATGGCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(393): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGGG GGGAGGGGGAGGGGGAGGGGGGGGAGGGGAGGGGAGGGAGGGGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGGAGGG GAGGGGGGGGAGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGA GGGGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGAGGGGGGGGAGGG GAGGGGAGGGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGGA G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0189 a0002c0002t0001g0189	1	6	0.1667	400	c.138 others(419): Show c.1384-5708_1384-5707insCTCCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCCTCTCCCCTCCCCC CCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTC CCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCTCCCCTCCCC TCCCCCCCCTCCCCCTCCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCC TCCCCTCCCCTCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SSH2_chr17_29620938_29935228	29895242	A A	ATTATATA others(393): Show ATTATATATACATTTTATATATGAAATATATAAAATATATTTTATATATA CATTTTATATATGAAATATATAAAATATATTTTATATATACATTTTATAT ATGAAATATATAAAATATATTTTATATATACATTTTATATATGAAATATA TAAAATATATTTTATATATACATTTTATATATGAAATATATAAAATATAT TTTATATATACATTTTATATATGAAATATATAAAATATATTTTATATATA CATTTTATATATGAAATATATAAAATATATTTTATATATACATTTTATAT ATGAAATATATAAAATATATTTTATATATACATTTTATATATGAAATATA TAAAATATATTTTATATATACATTTTATATATGAAATATATAAAATATAT T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01123.hp2 HG00099.hp1 HG01123.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0152 a0002c0002t0012g0154 a0002c0002t0012g0152 a0002c0002t0012g0154	2	104	0.0192	400	c.63+ others(417): Show c.63+34296_63+34695dupAATATATTTTATATATTTCATATATAAA ATGTATATATAAAATATATTTTATATATTTCATATATAAAATGTATATAT AAAATATATTTTATATATTTCATATATAAAATGTATATATAAAATATATT TTATATATTTCATATATAAAATGTATATATAAAATATATTTTATATATTT CATATATAAAATGTATATATAAAATATATTTTATATATTTCATATATAAA ATGTATATATAAAATATATTTTATATATTTCATATATAAAATGTATATAT AAAATATATTTTATATATTTCATATATAAAATGTATATATAAAATATATT TTATATATTTCATATATAAAATGTATATATAAAATATATTTTATATATTT CATATATAAAATGTATATATAA	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29895610	T T	TACATTTT others(393): Show TACATTTTATATATGAAATATATAAAATATATTTTATATATACATTTTAT ATATGAAATATATAAAATATATTTTATATATACATTTTATATATGAAATA TATAAAATATATTTTATATATACATTTTATATATGAAATATATAAAATAT ATTTTATATATACATTTTATATATGAAATATATAAAATATATTTTATATA TACATTTTATATATGAAATATATAAAATATATTTTATATATACATTTTAT ATATGAAATATATAAAATATATTTTATATATACATTTTATATATGAAATA TATAAAATATATTTTATATATACATTTTATATATGAAATATATAAAATAT ATTTTATATATACATTTTATATATGAAATATATAAAATATATTTTATATA C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0153 a0002c0002t0012g0153	1	122	0.0082	400	c.63+ others(417): Show c.63+34327_63+34328insGTATATAAAATATATTTTATATATTTCA TATATAAAATGTATATATAAAATATATTTTATATATTTCATATATAAAAT GTATATATAAAATATATTTTATATATTTCATATATAAAATGTATATATAA AATATATTTTATATATTTCATATATAAAATGTATATATAAAATATATTTT ATATATTTCATATATAAAATGTATATATAAAATATATTTTATATATTTCA TATATAAAATGTATATATAAAATATATTTTATATATTTCATATATAAAAT GTATATATAAAATATATTTTATATATTTCATATATAAAATGTATATATAA AATATATTTTATATATTTCATATATAAAATGTATATATAAAATATATTTT ATATATTTCATATATAAAATGT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
ST6GALNAC6_chr9_127880321_127904603	127882566	G G	GGAAAGGA others(393): Show GGAAAGGAAAGAAGGGAAAGGAAGGGAAGGGAAGGAAGCGGGGGGAGGGG AGGAGAGGGGAGGGAAGGGAGGGGGGGGGAAGAAGGGGAGGGGGAAGAAG GGGAAGGGAAGAAGGGAAGAAGGGAAAGGGAAGAGGGAAGGGAAGAGGGG AAGGGAACAAGGGAAGGAAAGAAGGGAAGGGAAGAAGGGAAGGGAAGGAA AGGGAAGGGAAGAGGGCGAGGGAAGGGAAGGAAAGAGGGGGAGGGAAGGG GGAAGAGGGGGAGGGAAGAGAGGGAGGGAAGAGGGAAGGGAAAAAAAGGA AGAGAAGAAGGGAAGGAAGAAGGAAAGAAGGGAAGGGAAGAAAGGAAGGG AAGAAGGGAAGGGAAGGAGGGAAGGGAAGGGAAGAAAGGAAGGGAAGAGA A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	14	0.0714	400	c.40 others(411): Show c.4032_*4033insTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCCCT CCTTCCCTTCCCTTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTTCCTTCT TCCTTCCCTTCTTCTCTTCCTTTTTTTCCCTTCCCTCTTCCCTCCCTCTC TTCCCTCCCCCTCTTCCCCCTTCCCTCCCCCTCTTTCCTTCCCTTCCCTC GCCCTCTTCCCTTCCCTTTCCTTCCCTTCCCTTCTTCCCTTCCCTTCTTT CCTTCCCTTGTTCCCTTCCCCTCTTCCCTTCCCTCTTCCCTTTCCCTTCT TCCCTTCTTCCCTTCCCCTTCTTCCCCCTCCCCTTCTTCCCCCCCCCTCC CTTCCCTCCCCTCTCCTCCCCTCCCCCCGCTTCCTTCCCTTCCCTTCCTT TCCCTTCTTTCCTTTC	ST6GALNAC6	ENSG00000160408.16	transcript	ENST00000373146.6	protein_coding		2754		chr9	TogoVar
STARD7_chr2_96179859_96213827	96197066	C C	CAAACTAA others(393): Show CAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC TAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC TAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC TAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC TAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC TAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC TAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC TAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC T	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0216 a0002c0002t0002g0216	1	138	0.0072	400	c.291 others(417): Show c.291-1518_291-1517insAGTTTAGTTTAGTTTAGTTTAGTTTAGT TTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGT TTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGT TTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGT TTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGT TTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGT TTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGT TTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGT TTAGTTTAGTTTAGTTTAGTTT	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
SVEP1_chr9_110360248_110584741	110390312	T T	TATATATA others(393): Show TATATATACTTATATATATACTTATATAAGTATATATATACTTATATATA TACTTATATAAGTATATATATACTTATATATATACTTATATAAGTATATA TATACTTATATATATACTTATATAAGTATATATATACTTATATATATACT TATATAAGTATATATATACTTATATATATACTTATATAAGTATATATATA CTTATATATATACTTATATAAGTATATATATACTTATATATATACTTATA TAAGTATATATATAAGTATATATATACTTATATATATACTTATATAAGTA TATATATACTTATATATATACTTATATAAGTATATATATACTTATATAAG TATATATATACTTATATATATACTTATATAAGTATATATATACTTATATA A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0033 a0033	a0033c0031 a0033c0031	a0033c0031t0004 a0033c0031t0004	a0033c0031t0004g0093 a0033c0031t0004g0093	1	353	0.0028	400	c.982 others(417): Show c.9823-726_9823-725insTTATATAAGTATATATATACTTATATAA GTATATATATAAGTATATATATACTTATATAAGTATATATATACTTATAT AAGTATATATATAAGTATATATATACTTATATAAGTATATATATAAGTAT ATATATACTTATATATATACTTATATAAGTATATATATAAGTATATATAT ACTTATATAAGTATATATATAAGTATATATATACTTATATAAGTATATAT ATAAGTATATATATACTTATATAAGTATATATATAAGTATATATATACTT ATATAAGTATATATATAAGTATATATATACTTATATAAGTATATATATAA GTATATATATACTTATATAAGTATATATATAAGTATATATATACTTATAT AAGTATATATATAAGTATATAT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(393): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG AGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGG GGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGG AGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGGGGGGAGAGAGAGGGGGAG G	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	170	0.0059	400	c.-18 others(419): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCTCCCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCC CCCTCCCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCCT CTCCCCCCTCCCTCCCCCTCTCTCCCCCCCTCCCCCTCTCTCCCCCTCCC TCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCTCCGCCTCCCCTTCTCT CTCTCCCTCCCCACTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCTC TCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TBC1D22A_chr22_46757650_47180693	46772316	T T	TACACATA others(393): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACACACATATATATGTATACACACACACATATATA TGTATACACACACATATATATGTATACACACACATATATATGTATACACA CACATATATATGTATACACACACATATATATGTATACACACATACATATA TATGTATACACACATACATATATATGTATACACACATACATATATATGTA TACACACATACATATATATGTATACACACATACATATATATGTATACACA C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	96	0.0104	400	c.62+ others(415): Show c.62+9469_62+9470insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACACACATATATATGTA TACACACACACATATATATGTATACACACACATATATATGTATACACACA CATATATATGTATACACACACATATATATGTATACACACACATATATATG TATACACACATACATATATATGTATACACACATACATATATATGTATACA CACATACATATATATGTATACACACATACATATATATGTATACACACATA CATATATATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46772364	T T	TACACATA others(393): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACACACATATATATGTATACACACACACATATATA TGTATACACACACATATATATGTATACACACACATATATATGTATACACA CACATATATATGTATACACACACATATATATGTATACACACATACATATA TATGTATACACACATACATATATATGTATACACACATACATATATATGTA TACACACATACATATATATGTATACACACATACATATATATGTATACACA C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0093 a0001c0001t0004g0093	1	104	0.0096	400	c.62+ others(415): Show c.62+9517_62+9518insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACACACATATATATGTA TACACACACACATATATATGTATACACACACATATATATGTATACACACA CATATATATGTATACACACACATATATATGTATACACACACATATATATG TATACACACATACATATATATGTATACACACATACATATATATGTATACA CACATACATATATATGTATACACACATACATATATATGTATACACACATA CATATATATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46772609	T T	TATATATG others(393): Show TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACACATATACATATATATGTATACACACATATACATATATA TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACACATATACATATATATGTATACACACATATACATATATATGTA TACACACATATACATATATATGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATACATATATATGTATACACA C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0028 a0002c0003t0003g0028	1	36	0.0278	400	c.62+ others(415): Show c.62+9766_62+9767insTGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATACATATATATGTATACACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATACATATATATGTATACACACATA TACATATATATGTATACACACATATACATATATATGTATACACACATATA CATATATATGTATACACACATATACATATATATGTATACACACATATACA TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(393): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCT CCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCT CTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCGTCCCCTCCTCTCCC CTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCCCC T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	165	0.0061	400	c.186 others(417): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCC CCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCC TCCCCCCTCCCCCCTCCCCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TMEM132D_chr12_129066726_129909025	129088024	C C	CATGACCG others(393): Show CATGACCGGGCGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCC TCCATGACCGGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTG TCCTCTATGACCGGGTGTCCTCCATGACCGGACGTCCTCCATGACCGGGC GTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCATGACCGG GGTGTCCTCCATGACCGGGCGTCCTCCATGACCGGGGTGTCCTCCATGAC CGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCTATG ACCGGGTGTCCTCTATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCTA TGACCGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGTCCTC T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG04204.hp1 NA20752.hp2 HG00099.hp1 HG04204.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0078 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0078	3	90	0.0333	400	c.144 others(419): Show c.1444-3323_1444-3322insAGAGGACACCCCGGTCATGGAGGACA CCCGGTCATGGAGGACACCCGGTCATAGAGGACACCCCGGTCATGGAGGA CACCCGGTCATAGAGGACACCCGGTCATAGAGGACACCCGGTCATGGAGG ACACCCCGGTCATGGAGGACACCCGGTCATGGAGGACACCCCGGTCATGG AGGACGCCCGGTCATGGAGGACACCCCGGTCATGGAGGACACCCGGTCAT GGAGGACATCCCGGTCATGGAGGACGCCCGGTCATGGAGGACGTCCGGTC ATGGAGGACACCCGGTCATAGAGGACACCCGGTCATGGAGGACACCCCGG TCATGGAGGACACCCCGGTCATGGAGGACACCCGGTCATGGAGGACATCC CGGTCATGGAGGACGCCCGGTCAT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMPRSS9_chr19_2355265_2431261	2377590	T T	TCCCCTCC others(393): Show TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTC CCCTTCTCTGTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCC TCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCC CTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCTCT CCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCC TCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCTCCCCTCTCCCC TTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCT CCCCTCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTCC C	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0057 a0004c0003t0003g0057	1	77	0.0130	400	c.-25 others(419): Show c.-25-12169_-25-12168insCCTCCCCTCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCTCCCCTCCCCTTCTCTGTCCTCCCCTCCTCTCTCTT CCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTC TCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCC TTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCT CTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCC TTCCCTCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTC CCCTCCCCTCTCCCCTTCCCTCCCCTCCCTCCCCTCTCCCCTTCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TNS3_chr7_47270154_47587111	47363043	C C	CACCATTA others(393): Show CACCATTACCACTATCAAGATCATTACCACCATCAACATCATCACCATCA TCACAGTCATCACCATCATCAGGGTCATCACCACCATCACCATGACCATC ATCACCATCAACATCATCACCACCTTCAACATCATCACCATCATCACTGT CACCATCACCATCACCAAACAATCATGACCATCATTATCATCACCATCAT CACCATCATCTCTGTCATCATCACCATCACCATCATCACCATCACCACTG TCATCACACCATCACCACCATCAACATCATCACAGTCATTATCACCATCA TCAGGGTCATCACCATCAACATCAGCACCACCATCACCATCATCACCATC ATCCCAGTCATCACCATCATCGCTGTCATCATCACCATCACCATCATCAC T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03209.hp2 HG03471.hp1 others(1): Show HG02922.hp1 HG03209.hp2 HG03471.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0009 a0001c0002t0026 others(1): Show a0001c0002t0008 a0001c0002t0009 a0001c0002t0026 a0001c0002t0042	a0001c0002t0008g0184 a0001c0002t0009g0182 a0001c0002t0026g0175 others(1): Show a0001c0002t0008g0184 a0001c0002t0009g0182 a0001c0002t0026g0175 a0001c0002t0042g0025	4	194	0.0206	400	c.228 others(419): Show c.2281+5321_2281+5322insAGTGATGATGGTGATGGTGATGATGA CAGCGATGATGGTGATGACTGGGATGATGGTGATGATGGTGATGGTGGTG CTGATGTTGATGGTGATGACCCTGATGATGGTGATAATGACTGTGATGAT GTTGATGGTGGTGATGGTGTGATGACAGTGGTGATGGTGATGATGGTGAT GGTGATGATGACAGAGATGATGGTGATGATGGTGATGATAATGATGGTCA TGATTGTTTGGTGATGGTGATGGTGACAGTGATGATGGTGATGATGTTGA AGGTGGTGATGATGTTGATGGTGATGATGGTCATGGTGATGGTGGTGATG ACCCTGATGATGGTGATGACTGTGATGATGGTGATGATGTTGATGGTGGT AATGATCTTGATAGTGGTAATGGT	TNS3	ENSG00000136205.18	transcript	ENST00000311160.14	protein_coding	17/30			chr7	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(393): Show ATATTATATATACATTATATATATATATATTATATATACATTATATATAT ATATATTATATATACATTATATATATATATTATATATACATTATATATAT ATATTATATATACATTATATATATATTATATATACATTATATATATATTA TATATACATTATATATATATATTATATATACATTATATATATATATTATA TATACATTATATATATTATATATTATATATACATTATATATATTATATAT TATATATACATTATATATATCATATATTATATATACATTATATATATCAT ATATTATATATACATTATATATATTATATATTATATATACATTATATATA TTATATATTATATATACATTATATATTATATATTATATATACATTATATA T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	149	0.0067	400	c.102 others(419): Show c.102+26610_102+26611insATATATAATGTATATATAATATATAA TATATAATGTATATATAATATATAATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATGATATATATAATGTATATATAAT ATATGATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATATATATAATGTATAT ATAATATATATATATAATGTATATATAATATATATATAATGTATATATAA TATATATATAATGTATATATAATATATATATATAATGTATATATAATATA TATATATAATGTATATATAATATATATATATATAATGTATATATAATATA TATATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930701	T T	TAGGGAGA others(393): Show TAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAG GGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGA CCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGGGT CAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGG GAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAG GCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCA GGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGACCAAGGGT C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0024	1	446	0.0022	400	c.48 others(411): Show c.4889_*4890insGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAAC CCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCG GCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCT AATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCTCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCT GACCCTTGGTCTCCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4668		chr11	TogoVar
TPD52L2_chr20_63860270_63896538	63879803	T T	TCCCATCC others(393): Show TCCCATCCCCACTCTTAGGGCACAAATGCAGGTGCAGCTTCCCCATCCCC ACTCTTAGGGCACAAATGCAGGTGCAGCTTCCCCATCCCCACTCTTAGGG CACAAATGCAGGTGCAGCTTCCCCATCCCCACTCTTTAGGCACAAATGCA GGTGCAGCTTCCCCATCCCCACTCTTTAGGCACAAATGCAGGTGCAGCTT CCCCATCCCCACTCTTAGGGCACAAATGCAGGTGCAGCTTCCCCATCCCC ACTCTTTAGGCACAAATGCAGGTGCAGCTTCCCCATCCCCACTCTTTAGG CACAAATGCAGGTGCAGCTTTCCCATCCCCACTCTTAGGGCACAAATGCA GGTGCAGCTTCCCCATCCCCACTCTTTAGGCACAAATGCAGGTGCAGCTT C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	366	0.0027	400	c.375 others(417): Show c.375-2820_375-2421dupAGGGCACAAATGCAGGTGCAGCTTCCCC ATCCCCACTCTTTAGGCACAAATGCAGGTGCAGCTTCCCCATCCCCACTC TTTAGGCACAAATGCAGGTGCAGCTTCCCCATCCCCACTCTTAGGGCACA AATGCAGGTGCAGCTTCCCCATCCCCACTCTTTAGGCACAAATGCAGGTG CAGCTTCCCCATCCCCACTCTTTAGGCACAAATGCAGGTGCAGCTTTCCC ATCCCCACTCTTAGGGCACAAATGCAGGTGCAGCTTCCCCATCCCCACTC TTTAGGCACAAATGCAGGTGCAGCTTCCCCATCCCCACTCTTAGGGCACA AATGCAGGTGCAGCTTCCCCATCCCCACTCTTAGGGCACAAATGCAGGTG CAGCTTCCCCATCCCCACTCTT	TPD52L2	ENSG00000101150.18	transcript	ENST00000346249.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
TPO_chr2_1408463_1548673	1489933	A A	AGGAGTCA others(393): Show AGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAATAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG AGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0008 a0004c0007t0008	a0004c0007t0008g0099 a0004c0007t0008g0099	1	117	0.0085	400	c.176 others(419): Show c.1768+1954_1768+1955insCAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGTGGG TCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGGGGAGTCACGACACAATAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGAGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGGGGAGTCACGACA	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

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