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
RTP5_chr2_241864729_241878823	241877986	C C	CCCTCTCC others(308): Show CCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCCCT CTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCCACCCCCATCCCTCTCCTC GCTCCCCTCCCTCTCCCGGCCCCCCCACCCCTTCCCTCTCTCCTCGCTCC CCTCCCTCTCCCGGCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCT CTCCTGGCCGTCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCC TGGCCGCCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGC CGCCCCCCAACCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	365	0.0027	315	c.47 others(326): Show c.4712_*4713insCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCC CCCAACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCCACC CCCATCCCTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCCACCCCTTCC CTCTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCCACCCCATCCCTCTC CTCGCTCCCCTCCCTCTCCTGGCCGTCCCCCACCCCCATCCCTCTCCTCG CTCCCCTCCCTCTCCTGGCCGCCCCCCCCACCCCATCCCTCTCCTCGCTC CCCTCCCTCTCCTGCCGCCCCCCAACCCCAT	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4164		chr2	TogoVar
RUFY2_chr10_68338408_68412277	68405658	T T	TAAAATAC others(308): Show TAAAATACACTGACAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18906.hp1 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0257 a0001c0001t0022g0258 a0001c0001t0022g0257 a0001c0001t0022g0258	2	276	0.0073	315	c.5-8 others(326): Show c.5-815_5-814insTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCCTGTCAGTGTATTTT	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	1/17			chr10	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(308): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	210	0.0048	315	c.899 others(330): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SAMD4A_chr14_54562128_54798312	54709298	C C	CAAAAAAC others(308): Show CAAAAAACAGAAGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGTTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	262	0.0038	315	c.715 others(332): Show c.715+6732_715+6733insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGTTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAACAGAAGAA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SARDH_chr9_133658560_133743352	133669058	T T	TCTCTCTC others(308): Show TCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTC CCTCACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCC CTCACCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCT CACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCATCCTCCCTCTCCCTC ACCCTCCCTCTCCCCTTACCCTCCCTCTTCCCTTACCCTCCCCCTCCCTC TCCCTCACCTTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCCTCTC CCTCACCCTCCATCTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG03139.hp2 HG01891.hp1 HG02280.hp2 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0033 a0001c0048 a0003c0013 a0001c0033 a0001c0048 a0003c0013	a0001c0033t0001 a0001c0048t0002 a0003c0013t0004 a0001c0033t0001 a0001c0048t0002 a0003c0013t0004	a0001c0033t0001g0146 a0001c0048t0002g0244 a0003c0013t0004g0050 a0001c0033t0001g0146 a0001c0048t0002g0244 a0003c0013t0004g0050	3	262	0.0115	315	c.249 others(334): Show c.2495+1525_2495+1526insGAGATGGAGGGTGAGGGAGAGGGAGG GTGAGGGAGAGGGAGGGTAGGGGAGAGGGAAGGTGAGGGAGAGGGAGGGG GAGGGTAAGGGAAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGAGG GAGGATGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGG AAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGTGAGGGAGAGGGAG GGTAAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTGAGGGAGAGGGAAG GTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGAGAGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669169	T T	TCTCCCTC others(308): Show TCTCCCTCACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCT CTCCCCTCATCCTCCCTCACCCTCCCTCTCCCTCACCTTCCCTCTCCCTC ACCTTCCCTCTCCCTTACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTA CCCTCCCTCTCCCTCACCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACC TTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCC TCCCTCTCCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCC TCCCTCTCCCCTCATC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0004 a0003c0022t0004	a0003c0022t0004g0254 a0003c0022t0004g0254	1	262	0.0038	315	c.249 others(334): Show c.2495+1414_2495+1415insGATGAGGGGAGAGGGAGGGTGAGGGA GAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGG AGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAAGGTGAGGGAG AGGGAGGGTAAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGGAGA GGGAGGGTGAGGGAGATGGAGGGTAAGGGAGAGGGAAGGTGAGGGAGAGG GAAGGTGAGGGAGAGGGAGGGTGAGGGAGGATGAGGGGAGAGGGAGGGTA AGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTGAGGGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SASS6_chr1_100078570_100137930	100086087	C C	CAAATTAA others(308): Show CAAATTAATACAAATGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG02486.hp2 others(6): Show HG01884.hp1 HG02451.hp1 HG02486.hp2 HG02622.hp2 HG02723.hp2 HG02970.hp2 HG02976.hp2 HG03209.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 others(6): Show a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218	9	304	0.0296	315	c.177 others(332): Show c.1773-458_1773-457insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCCTCATTTGTATTAATTT	SASS6	ENSG00000156876.10	transcript	ENST00000287482.6	protein_coding	15/16			chr1	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(308): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAA CTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTAGACAGGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCAC AATCATGGCTCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCA CCCCAGCCTCCAAGGT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0265 a0002c0002t0005g0265	1	414	0.0024	315	c.678 others(330): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATT ACAAATAATAAATAATTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCT GTCACCTAGGCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCC AGCTCCTGGGCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(308): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAAC TGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTAGACAGGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCAC AATCATGGCTCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCA CCCCAGCCTCCAAGGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0011 a0003c0005t0011	a0003c0005t0011g0327 a0003c0005t0011g0327	1	414	0.0024	315	c.678 others(330): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACAT TACAAATAATAAATAATTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCT GTCACCTAGGCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCC AGCTCCTGGGCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCML4_chr6_107697154_107829313	107742094	T T	TAAAAAAA others(308): Show TAAAAAAAATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0071 a0001c0001t0006g0071	1	250	0.0040	315	c.682 others(332): Show c.682+2854_682+2855insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGATTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	5/7			chr6	TogoVar
SCTR_chr2_119434843_119529483	119510698	C C	CAAGAGCT others(308): Show CAAGAGCTATTCGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0237	1	290	0.0035	315	c.72+ others(332): Show c.72+13456_72+13457insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCGAATAGCTCTT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	1/12			chr2	TogoVar
SENP5_chr3_196862920_196939714	196874213	T T	TAAAATGT others(308): Show TAAAATGTGTCTGCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02572.hp2 HG03453.hp2 HG02056.hp2 HG02572.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0144 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0001g0144 a0001c0001t0004g0101 a0001c0001t0004g0102	3	306	0.0098	315	c.-32 others(332): Show c.-32+6155_-32+6156insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAAACAGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAATGTGTCTGCTT	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEPTIN12_chr16_4772606_4793345	4779162	A A	AATAATAC others(308): Show AATAATACATCAGGGGCGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGTGGGCGGATCACAAAGTCAGGAGATCAAGAC CATCCTGGCCAACATGATGAAACCCCGTCTCTATTAAAAGTACAAAAATT AGCTGGGCGTAGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGGGA TTGTGCCACTGCACTCCAGCCTGGTGACAGAGCGGGACTCCACCTCAAAA AAAAAAAATAAAAATT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0162 a0001c0004t0002g0162	1	422	0.0024	315	c.823 others(330): Show c.823+527_823+528insAATTTTTATTTTTTTTTTTTGAGGTGGAGT CCCGCTCTGTCACCAGGCTGGAGTGCAGTGGCACAATCCCGGCTCACTGC AACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGATTACAGGCGTGCGCCACTACGCCCAGCTAATTTTTGTACTTT TAATAGAGACGGGGTTTCATCATGTTGGCCAGGATGGTCTTGATCTCCTG ACTTTGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACTGCGCCCGGCCGCCCCTGATGTATTAT	SEPTIN12	ENSG00000140623.14	transcript	ENST00000268231.13	protein_coding	8/9			chr16	TogoVar
SEPTIN9_chr17_77276499_77505593	77484808	G G	GTGATTGT others(308): Show GTGATTGTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGT GGTGATTGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGA AGGGGGTGATGCTGGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGG GGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTG GTGGTGAAGGGGGTGA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp2 HG03017.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0054 a0001c0001t0006 a0001c0001t0054	a0001c0001t0006g0066 a0001c0001t0054g0004 a0001c0001t0006g0066 a0001c0001t0054g0004	2	150	0.0133	315	c.913 others(332): Show c.913+2475_913+2476insATTGTGATGGTTGTGATTGTGATGGTGG TGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATG CTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATGGTGGTGAAGGG GGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77484808	G G	GTGATTGT others(308): Show GTGATTGTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGT GGTGATTGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGA AGGGGGTGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGG GGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTG GTGGTGAAGGGGGTGA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0097 a0005c0006t0001g0097	1	150	0.0067	315	c.913 others(332): Show c.913+2475_913+2476insATTGTGATGGTTGTGATTGTGATGGTGG TGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATG CTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGTGAAGGG GGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484808	G G	GTGATTGT others(308): Show GTGATTGTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGT GGTGATTGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGA AGGGGGTGATGCTGGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGG GGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTG GTGGTGAAGGGGGTGA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp2 HG03017.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0042 a0001c0001t0005 a0001c0001t0042	a0001c0001t0005g0028 a0001c0001t0042g0082 a0001c0001t0005g0028 a0001c0001t0042g0082	2	158	0.0127	315	c.859 others(332): Show c.859+2475_859+2476insATTGTGATGGTTGTGATTGTGATGGTGG TGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATG CTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATGGTGGTGAAGGG GGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484808	G G	GTGATTGT others(308): Show GTGATTGTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGT GGTGATTGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGA AGGGGGTGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGG GGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTG GTGGTGAAGGGGGTGA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0110 a0005c0007t0001g0110	1	158	0.0063	315	c.859 others(332): Show c.859+2475_859+2476insATTGTGATGGTTGTGATTGTGATGGTGG TGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATG CTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGTGAAGGG GGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERINC2_chr1_31408213_31439678	31432128	A A	ATAGGGTG others(308): Show ATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGATAGGGTGGGTAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTA GGGTGGATAGGGTGGT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0268 a0001c0003t0004g0268	1	376	0.0027	315	c.101 others(332): Show c.1014-831_1014-830insTTAGGGTGGATAGGGTGGTTAGGGTGGA TAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGATAGGGTGGGTAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTG GATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERPINA4_chr14_94556442_94574906	94558268	A A	ACAAGGAC others(308): Show ACAAGGACAGCCTTTTTTTTTTTTTTTTTTTTTTTTGAGAGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00741.hp1 HG01109.hp1 others(15): Show HG00639.hp2 HG00741.hp1 HG01109.hp1 HG01496.hp2 HG02132.hp1 HG02738.hp2 HG02965.hp2 HG02970.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp2 HG03688.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp1 NA18906.hp2 NA18988.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0008 a0001c0003t0001g0003 a0001c0003t0001g0011 a0001c0001t0001g0008 a0001c0003t0001g0003 a0001c0003t0001g0011	18	428	0.0421	315	c.-32 others(326): Show c.-3244_-3243insCAAGGACAGCCTTTTTTTTTTTTTTTTTTTTTTT TGAGAGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCC	SERPINA4	ENSG00000100665.12	transcript	ENST00000557004.6	protein_coding		3173		chr14	TogoVar
SERPINF2_chr17_1737871_1760265	1739538	A A	AGCCTGAT others(308): Show AGCCTGATTCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGC AGGGAGTGAGGAGCCGTACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCA GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACA GTCAGGGTGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	445	0.0023	315	c.-33 others(326): Show c.-3375_-3374insGCCTGATTCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGG GAGGCGGCCTGATGCAGGGAGTGAGGAGCCGTACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCCGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGC AGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAGCAGGACAGTCAGGGTGGGAGGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3332		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739649	A A	AGCCGGAC others(308): Show AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAGGTGGCCTGATGCAGGGAGTGAGGAGCCGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCG GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	445	0.0023	315	c.-32 others(326): Show c.-3264_-3263insGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGTGGCCTGATGCAGGGAG TGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAG TGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGC	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3221		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739829	C C	CACAGGAC others(308): Show CACAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGG AGGCGGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCG GCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	445	0.0023	315	c.-30 others(326): Show c.-3084_-3083insACAGGACAGTGAGGGTGGGAAGTGGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCAGGACAG TGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGA	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3041		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1740541	G G	GAGTGAGG others(308): Show GAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTG AGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAG CCGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGA CAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACACTG AGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGT GGGAAGGGGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAA GGGGCCTGATGCAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0011	1	445	0.0023	315	c.-23 others(326): Show c.-2372_-2371insAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGC CTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGAT GCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGG GAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTG AGGAGCCGGACACTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCG CAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCAGGA CAGTGAGGGTGGGAAGGGGCCTGATGCAGAA	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2329		chr17	TogoVar
SF3A3_chr1_37951975_37995022	37967099	T T	TAGAAAAA others(308): Show TAGAAAAATTAGACCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTT TGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCGAGACCATTCT GGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAAATAGCT GGGCGTGGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAATGAGGCAGG AGAATGGCGTGAACCCGGGAGGTGGAGCGTGCAGTGAGCCAAGATCGCGC CACTGCACTCCAGCCTGGGGACAGAGCGACACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03704.hp1 NA19085.hp2 HG01975.hp1 HG03704.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0145 a0001c0001t0001g0181 a0001c0001t0022g0180 a0001c0001t0001g0145 a0001c0001t0001g0181 a0001c0001t0022g0180	3	400	0.0075	315	c.137 others(332): Show c.1372+944_1372+945insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTGTCGCTCTGTCCCCAGGCTGGAGTGCAGTGGCGCGATCTTGG CTCACTGCACGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCATTC CCGAGTAGCTGGGACTGCAGGCGCCCGCCACCACGCCCAGCTATTTTTTT TGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGAATGGTCTCG ATCTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAAAGTGCTAGGAT TACAGGCGTGAGCCACCGCGCCCGGTCTAATTTTTCT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	15/16			chr1	TogoVar
SIGIRR_chr11_400716_419999	412565	G G	GGGGGGGT others(308): Show GGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGAGGGGTGC CCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCA TGTCTGGATACAGTCGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGATG CAGTCGGTGGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGGGGAG GGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGC TCTGACCATGTCTGGATACAGTCGGGCGGGGGGGGTGCTCAGCTCTGACC ATGTCTGGATGCAGTC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	242	0.0041	315	c.-15 others(334): Show c.-154+2257_-154+2258insGACTGCATCCAGACATGGTCAGAGCT GAGCACCCCCCCCGCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACC CCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGACT GCATTCAGACATGGTCAGAGCTGGGCACCCCCACCGACTGCATCCAGACA TGGTCAGAGCTGGGCACCCCCCCCCGACTGTATCCAGACATGGTCAGAGC TGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCTCC CCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	412565	G G	GGTGGGGT others(308): Show GGTGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGAGGGGTGC CCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCA TGTCTGGATACAGTCGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGATG CAGTCGGCGGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGGGGAG GGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGC TCTGACCATGTCTGGATACAGTCGGGCGGGGGGGGTGCTCAGCTCTGACC ATGTCTGGATGCAGTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02027.hp2 HG02056.hp2 others(5): Show HG01243.hp1 HG02027.hp2 HG02056.hp2 HG02717.hp1 HG02895.hp2 HG02897.hp2 HG03834.hp2 NA18995.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0001c0006 a0004c0008 a0001c0003 a0001c0006 a0004c0008	a0001c0003t0001 a0001c0006t0001 a0004c0008t0001 a0001c0003t0001 a0001c0006t0001 a0004c0008t0001	a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(5): Show a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0006t0001g0105 a0001c0006t0001g0106 a0001c0006t0001g0109 a0001c0006t0001g0115 a0004c0008t0001g0029	8	242	0.0331	315	c.-15 others(334): Show c.-154+2257_-154+2258insGACTGCATCCAGACATGGTCAGAGCT GAGCACCCCCCCCGCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACC CCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGACT GCATTCAGACATGGTCAGAGCTGGGCACCCCCGCCGACTGCATCCAGACA TGGTCAGAGCTGGGCACCCCCCCCCGACTGTATCCAGACATGGTCAGAGC TGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCTCC CCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCAC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SKAP1_chr17_48128442_48435214	48427627	T T	TAAAAGCA others(308): Show TAAAAGCACACACAGGCCGGGCGCGGTGGCTCACGTCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0052 a0001c0003t0001g0052	1	292	0.0034	315	c.46+ others(330): Show c.46+2447_46+2448insTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG ACGTGAGCCACCGCGCCCGGCCTGTGTGTGCTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SLAIN1_chr13_77692687_77769229	77704003	C C	CATATGTT others(308): Show CATATGTTTTATAAGTGTATATATACACATATAAAATATATATACATATG TTTTATATGTGTATATATACACATATAAAATATATACATATGTTTTATAT GTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTAT ATATACATATAAAACATATGTATATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTCTATGTATATATACA TAGAAAATATGTACAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	300	0.0033	315	c.626 others(332): Show c.626+5466_626+5467insATGTTTTATAAGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAAT ATATACATATGTTTTATATGTGTATATATACACATATAAAATATATATAC ATATGTTTTATATGTGTATATATACATATAAAACATATGTATATAAAATA TATATACATATGTTTTATATGTGTATATATACACATATAAAATATATATA CATATGTTTTATATGTGTATATATACACATATAAAATATATATACATATG TTTTCTATGTATATATACATAGAAAATATGTACATAT	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77704003	C C	CATGTTTT others(308): Show CATGTTTTATAAGTGTATATATACACATATAAAATATATATACATATGTT TTATATGTGTATATATACACATATAAAATATATATACATATGTTTTATAT GTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTAT ATATACATATAAAACATATGTATATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTCTATGTATATATACA TAGAAAATATGTACAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	300	0.0033	315	c.626 others(332): Show c.626+5474_626+5475insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATATGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTT TATATGTGTATATATACATATAAAACATATGTATATAAAATATATATACA TATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTT TTATATGTGTATATATACACATATAAAATATATATACATATGTTTTCTAT GTATATATACATAGAAAATATGTACATATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC10A7_chr4_146248981_146526940	146430027	C C	CAAAAATT others(308): Show CAAAAATTAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp1 HG02622.hp2 others(1): Show HG01243.hp2 HG02451.hp1 HG02622.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0175 a0001c0001t0006g0177 a0001c0001t0006g0178 others(1): Show a0001c0001t0006g0175 a0001c0001t0006g0177 a0001c0001t0006g0178 a0001c0001t0006g0179	4	244	0.0164	315	c.435 others(334): Show c.435+12755_435+12756insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCCTTAATTTTT	SLC10A7	ENSG00000120519.16	transcript	ENST00000335472.12	protein_coding	5/11			chr4	TogoVar
SLC22A9_chr11_63364785_63415294	63378230	A A	AGAAAAAA others(308): Show AGAAAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp2 HG02818.hp1 others(7): Show HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02965.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp1 HG03516.hp1 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0032 a0001c0001t0033 others(5): Show a0001c0001t0003 a0001c0001t0032 a0001c0001t0033 a0001c0002t0014 a0001c0002t0028 a0001c0002t0045 a0001c0002t0047 a0001c0002t0050	a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0032g0010 others(6): Show a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0032g0010 a0001c0001t0033g0061 a0001c0002t0014g0166 a0001c0002t0028g0082 a0001c0002t0045g0065 a0001c0002t0047g0081 a0001c0002t0050g0080	10	346	0.0289	315	c.954 others(332): Show c.954+2474_954+2475insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCGAAAAAAATTTT	SLC22A9	ENSG00000149742.10	transcript	ENST00000279178.4	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC25A16_chr10_68472998_68532523	68524362	T T	TAAAACTT others(308): Show TAAAACTTCGTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CTTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTAG CCGGGCGTGTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCACTCCAACCTGGGAGACACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAACA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0292 a0001c0001t0009g0292	1	312	0.0032	315	c.130 others(332): Show c.130+2883_130+2884insTGTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTGTGTCTCCCAGGTTGGAGTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCAACACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAAACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGAGACGAAGTTTT	SLC25A16	ENSG00000122912.15	transcript	ENST00000609923.6	protein_coding	1/8			chr10	TogoVar
SLC25A21_chr14_36672921_37177606	36789817	A A	ATTTATAT others(308): Show ATTTATATATATATTTATATATATTTATATATTTATATATATTTATATAT ATATTTATATATATTTATATATTTATATATATTTATATATAATATATTTT TATTATATATATATTTATATATATATAATATAATATATATATTATATATA TAATATATATAAATATATTATATATATTATATATATAATATATTTATATA TATTTATATATTATATATATAATATATTTATATATATATATTATATATAT AATATATTTATATATATTTATATATTTATATATAATATATTTTTATATAT TTTTATATAAATTTAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	164	0.0061	315	c.203 others(334): Show c.203+24100_203+24101insATAAATTTATATAAAAATATATAAAA ATATATTATATATAAATATATAAATATATATAAATATATTATATATATAA TATATATATATAAATATATTATATATATAATATATAAATATATATAAATA TATTATATATATAATATATATAATATATTTATATATATTATATATATAAT ATATATATTATATTATATATATATAAATATATATATAATAAAAATATATT ATATATAAATATATATAAATATATAAATATATATAAATATATATATAAAT ATATATAAATATATAAATATATATAAATATATATATAAA	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(308): Show CAGTCAAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAAAGTGCTGGGATT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01934.hp2 HG02257.hp1 others(2): Show HG01081.hp2 HG01934.hp2 HG02257.hp1 HG02258.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0039 a0001c0001t0040 others(2): Show a0001c0001t0005 a0001c0001t0039 a0001c0001t0040 a0001c0001t0058 a0001c0001t0062	a0001c0001t0005g0046 a0001c0001t0039g0148 a0001c0001t0040g0011 others(2): Show a0001c0001t0005g0046 a0001c0001t0039g0148 a0001c0001t0040g0011 a0001c0001t0058g0174 a0001c0001t0062g0001	5	182	0.0275	315	c.100 others(334): Show c.1003-9029_1003-9028insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTAGTCAAAGATCTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC39A8_chr4_102256666_102350482	102324488	T T	TTCTTTTT others(308): Show TTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTG CCCAGGCCGGACTGCGGACTGCAATGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	266	0.0038	315	c.220 others(332): Show c.220-8659_220-8658insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGTGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCATTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGA	SLC39A8	ENSG00000138821.14	transcript	ENST00000356736.5	protein_coding	2/8			chr4	TogoVar
SLC44A3_chr1_94815357_94900246	94877129	T T	TAAAAAAA others(308): Show TAAAAAAAAGGTCGGGGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGC GCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0339 a0001c0001t0001g0339	1	360	0.0028	315	c.148 others(334): Show c.1482+9728_1482+9729insTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTCGGGG	SLC44A3	ENSG00000143036.17	transcript	ENST00000271227.11	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC9A3_chr5_465456_529449	495377	G G	GCTCCCCG others(308): Show GCTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCACCATC ACCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCAACCCTCCCCAC GCTCCACTCCCCACGCCATCGCCGACCCTCCCCACGCTCCACTCCCCACG CCATCGCCGACCCTCCCCACGCTCCACTCCCCACGCCATCGCCGACCCTC CCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCC CCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGA CCCTCCCCACGCTCCA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	218	0.0046	315	c.212 others(332): Show c.212-3307_212-3306insTGGAGCGTGGGGAGGGTCGGCGATGGCG CGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGT GGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGTGGGGAGGGTCGGCGA TGGCGTGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGTGGGGAGTGG AGCGTGGGGAGGGTCGGCGATGGCGTGGGGAGTGGAGCGTGGGGAGGGTT GGCGATGGCGCGGGGAGTGGAGCGTGGGGAGGGTCGGTGATGGTGCGGGG AGTGGAGCGTGGGGAGGGTCGGCGATGGCGCGGGGAG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	502844	T T	TGACACAG others(308): Show TGACACAGACGGGTGCTCAAAGCCGCCGTAACGACACAGACGGGCGCTGT GTTCCAGTGAAACTTTACCACTCACTACCAGTGAGGCCGAAAGCTGCCGT AACGACACAGATGGGCGCTGTGTTCCAGTGAAACTTTACCACTCACTACC ACTGAGGCCGAAAGCTGCCGTAACGACACAGATGGGCGCTGTGTTCCAGT GAAACTTTACCACTCACTACCACTGAGGCCGAAAGCCGCTGTAACGACAC AGATGGGCGCTGTGTTCCAGTGAAACTTTACCACTCACTACCAGTGAGGC CGAAAGCCGCCGTAAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0152 a0001c0003t0008g0152	1	218	0.0046	315	c.212 others(334): Show c.212-10774_212-10773insGTTACGGCGGCTTTCGGCCTCACTGG TAGTGAGTGGTAAAGTTTCACTGGAACACAGCGCCCATCTGTGTCGTTAC AGCGGCTTTCGGCCTCAGTGGTAGTGAGTGGTAAAGTTTCACTGGAACAC AGCGCCCATCTGTGTCGTTACGGCAGCTTTCGGCCTCAGTGGTAGTGAGT GGTAAAGTTTCACTGGAACACAGCGCCCATCTGTGTCGTTACGGCAGCTT TCGGCCTCACTGGTAGTGAGTGGTAAAGTTTCACTGGAACACAGCGCCCG TCTGTGTCGTTACGGCGGCTTTGAGCACCCGTCTGTGTC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	502893	G G	GTGAGGCC others(308): Show GTGAGGCCGAAAGCCGCCGTAACGACACAGACGGGCGCCGAAAGCCGCCG TAATGACACAGATGGGCGCTGTGTTCCAGTGAAACTTTACCACTCACTAC CAGTGAGGCCGAAAGCCGCCGTAACGACACAGATGGGCGCTGTGTTCCAG TGAAACTTTACCACTCACTACCACTGAGGCCGAAAGCCGCCGTAACGACA CAGATGGGCGCTGTGTTCCAGTGAAACTTTACCACTCACTACCACTGAGG CCGAAAGCCGCCGTAACGACACAGATGGGCGCTGTGTTCCAGTGAAACTT TACCACTCACTACCAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	218	0.0046	315	c.212 others(334): Show c.212-10823_212-10822insGTGGTAGTGAGTGGTAAAGTTTCACT GGAACACAGCGCCCATCTGTGTCGTTACGGCGGCTTTCGGCCTCAGTGGT AGTGAGTGGTAAAGTTTCACTGGAACACAGCGCCCATCTGTGTCGTTACG GCGGCTTTCGGCCTCAGTGGTAGTGAGTGGTAAAGTTTCACTGGAACACA GCGCCCATCTGTGTCGTTACGGCGGCTTTCGGCCTCACTGGTAGTGAGTG GTAAAGTTTCACTGGAACACAGCGCCCATCTGTGTCATTACGGCGGCTTT CGGCGCCCGTCTGTGTCGTTACGGCGGCTTTCGGCCTCA	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A9_chr3_143260222_143853468	143476000	T T	TAAAAGAT others(308): Show TAAAAGATTTAATACAGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01109.hp1 HG02886.hp1 others(2): Show HG01069.hp1 HG01109.hp1 HG02886.hp1 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0005t0012	a0001c0001t0001g0016 a0001c0001t0004g0007 a0001c0002t0001g0027 others(2): Show a0001c0001t0001g0016 a0001c0001t0004g0007 a0001c0002t0001g0027 a0001c0002t0001g0064 a0001c0005t0012g0097	5	108	0.0463	315	c.131 others(334): Show c.1316-8811_1316-8810insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCGACTGTATTAAATCTTTT	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	11/15			chr3	TogoVar
SLCO1A2_chr12_21259600_21339917	21277270	T T	TGGCATTT others(308): Show TGGCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG02615.hp2 others(4): Show HG00741.hp2 HG01069.hp2 HG02615.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp2 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0008 a0001c0008t0027 a0001c0008t0028 a0001c0005t0008 a0001c0008t0027 a0001c0008t0028	a0001c0005t0008g0138 a0001c0005t0008g0139 a0001c0005t0008g0140 others(4): Show a0001c0005t0008g0138 a0001c0005t0008g0139 a0001c0005t0008g0140 a0001c0005t0008g0141 a0001c0005t0008g0143 a0001c0008t0027g0145 a0001c0008t0028g0144	7	310	0.0226	315	c.161 others(334): Show c.1611-1847_1611-1846insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGCC	SLCO1A2	ENSG00000084453.17	transcript	ENST00000683939.1	protein_coding	12/14			chr12	TogoVar
SLIT3_chr5_168656740_169306139	168718163	C C	CAAAAGTG others(308): Show CAAAAGTGGAATAGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0060 a0001c0004t0006g0060	1	132	0.0076	315	c.248 others(334): Show c.2483+4092_2483+4093insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCTCTATTCCACTTTT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	23/35			chr5	TogoVar
SMAD2_chr18_47803957_47935659	47850548	A A	AATATATA others(308): Show AATATATATTATGTATAATATATATTATATATTATATATATATTATATAT ATTATGTATATTATATATTATATATATATTATATATATTATGTATACTAT ATATTATATATTATATATATTATGTATAATATATATTATATATTATATAT ATATTATATATATTATGTATACTATATATTATATATTATATATATTATGT ATAATATATATTATATATTATATATATATTATATATATTATGTATAATAT ATATTATATATTATATATATATTATATATATTATGTATAATATATATTAT ATATTATATATATATT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0261 a0001c0001t0068g0261	1	310	0.0032	315	c.784 others(330): Show c.784+725_784+726insAATATATATATAATATATAATATATATTAT ACATAATATATATAATATATATATAATATATAATATATATTATACATAAT ATATATAATATATATATAATATATAATATATATTATACATAATATATATA ATATATAATATATAGTATACATAATATATATAATATATATATAATATATA ATATATATTATACATAATATATATAATATATAATATATAGTATACATAAT ATATATAATATATATATAATATATAATATACATAATATATATAATATATA TATAATATATAATATATATTATACATAATATATAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850548	A A	AATATATA others(308): Show AATATATATTATGTATAATATATATTATATATTATATATATATTATATAT ATTATGTATATTATATATTATATATATATTATATATATTATGTATACTAT ATATTATATATTATATATATTATGTATAATATATATTATATATTATATAT ATATTATATATATTATGTATACTATATATTATATATTATATATATTATGT ATACTATATATTATATATTATATATATATTATATATATTATGTATAATAT ATATTATATATTATATATATATTATATATATTATGTATAATATATATTAT ATATTATATATATATT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0262 a0001c0001t0033g0262	1	310	0.0032	315	c.784 others(330): Show c.784+725_784+726insAATATATATATAATATATAATATATATTAT ACATAATATATATAATATATATATAATATATAATATATATTATACATAAT ATATATAATATATATATAATATATAATATATAGTATACATAATATATATA ATATATAATATATAGTATACATAATATATATAATATATATATAATATATA ATATATATTATACATAATATATATAATATATAATATATAGTATACATAAT ATATATAATATATATATAATATATAATATACATAATATATATAATATATA TATAATATATAATATATATTATACATAATATATAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMYD3_chr1_245744347_246512279	246298727	A A	AACAGCTC others(308): Show AACAGCTCTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTA ATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0148 a0002c0003t0001g0148	1	150	0.0067	315	c.531 others(334): Show c.531+28473_531+28474insCACGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCT AACAAGGTGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCG CGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCAC TGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTAGAGCTGT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNRPA1_chr15_101276510_101300248	101282976	C C	CAAGAATG others(308): Show CAAGAATGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	442	0.0023	315	c.710 others(332): Show c.710-1195_710-1194insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCTGCATTCTT	SNRPA1	ENSG00000131876.18	transcript	ENST00000254193.11	protein_coding	8/8			chr15	TogoVar
SNTG2_chr2_945849_1372613	1281234	G G	GTGTATTG others(308): Show GTGTATTGTGTGGTGTGTGGTGTGGTGTGTGTATGTGGTATGGTGTGTGT GCTTGTATATTTGGTGTTTATGCTGTATGTGGTGTGTGGAGTGTGTGTAT GTGGTGTGTGGTGTGGTGTGTGTGTTTGTGTGGTGTGTGTGTGTATGTGG CGTGTGTGTGCTTGTGTATTTGGTGTTTATGGTGTATGTGGTGTGGTGTG TGTTTATGTGGTGTATTGTGTGGTGTGTGTGTTTGTGTGGTGTGTGTATA TGTGGTGGTGTGTGTGTGCTTGTGTATTTGGTATTTATGGTGTATGTGGT GTGTGGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp2 HG01169.hp2 others(41): Show HG00642.hp1 HG00673.hp2 HG01169.hp2 HG01361.hp1 HG02015.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG04184.hp1 NA18522.hp1 NA18961.hp1 NA18970.hp1 NA18970.hp2 NA18983.hp2 NA18984.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp2 NA21309.hp1	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0005 a0006 a0009 a0012 a0013 a0018	a0001c0002 a0003c0008 a0003c0026 others(11): Show a0001c0002 a0003c0008 a0003c0026 a0004c0004 a0004c0014 a0005c0006 a0005c0015 a0006c0009 a0006c0010 a0006c0028 a0009c0012 a0012c0019 a0013c0018 a0018c0035	a0001c0002t0002 a0003c0008t0001 a0003c0008t0002 others(15): Show a0001c0002t0002 a0003c0008t0001 a0003c0008t0002 a0003c0026t0001 a0004c0004t0001 a0004c0004t0002 a0004c0014t0001 a0004c0014t0002 a0005c0006t0001 a0005c0006t0002 a0005c0015t0001 a0006c0009t0001 a0006c0010t0001 a0006c0028t0001 a0009c0012t0001 a0012c0019t0001 a0013c0018t0001 a0018c0035t0001	a0001c0002t0002g0076 a0003c0008t0001g0100 a0003c0008t0002g0072 others(41): Show a0001c0002t0002g0076 a0003c0008t0001g0100 a0003c0008t0002g0072 a0003c0026t0001g0097 a0004c0004t0001g0040 a0004c0004t0001g0065 a0004c0004t0001g0134 a0004c0004t0001g0144 a0004c0004t0001g0149 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0169 a0004c0004t0001g0177 a0004c0004t0001g0180 a0004c0004t0001g0181 a0004c0004t0002g0074 a0004c0014t0001g0036 a0004c0014t0001g0054 a0004c0014t0002g0001 a0005c0006t0001g0079 a0005c0006t0001g0081 a0005c0006t0001g0082 a0005c0006t0001g0083 a0005c0006t0001g0085 a0005c0006t0001g0086 a0005c0006t0002g0003 a0005c0015t0001g0037 a0006c0009t0001g0011 a0006c0009t0001g0049 a0006c0009t0001g0050 a0006c0009t0001g0094 a0006c0009t0001g0121 a0006c0009t0001g0163 a0006c0010t0001g0009 a0006c0010t0001g0012 a0006c0010t0001g0043 a0006c0010t0001g0162 a0006c0028t0001g0117 a0009c0012t0001g0066 a0012c0019t0001g0122 a0012c0019t0001g0159 a0013c0018t0001g0045 a0013c0018t0001g0046 a0018c0035t0001g0071	44	190	0.2316	315	c.128 others(336): Show c.1284+13666_1284+13667insATTGTGTGGTGTGTGGTGTGGTGT GTGTATGTGGTATGGTGTGTGTGCTTGTATATTTGGTGTTTATGCTGTAT GTGGTGTGTGGAGTGTGTGTATGTGGTGTGTGGTGTGGTGTGTGTGTTTG TGTGGTGTGTGTGTGTATGTGGCGTGTGTGTGCTTGTGTATTTGGTGTTT ATGGTGTATGTGGTGTGGTGTGTGTTTATGTGGTGTATTGTGTGGTGTGT GTGTTTGTGTGGTGTGTGTATATGTGGTGGTGTGTGTGTGCTTGTGTATT TGGTATTTATGGTGTATGTGGTGTGTGGTGTGTGTGTTTGT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1281234	G G	GTGTATTG others(308): Show GTGTATTGTGTGGTGTGTGGTGTGGTGTGTGTATGTGGTATGGTGTGTGT GCTTGTATATTTGGTGTTTATGCTGTATGTGGTGTGTGGAGTGTGTGTAT GTGGTGTGTGGTGTGGTGTGTGTGTTTGTGTGGTGTGTGTGTGTATGTGG CGTGTGTGTGCTTGTGTATTTGGTGTTTATGGTGTATGTGGTGTGGTGTG TGTTTATGTGGTGTATTGTGTGGTGTGTGTGTTTGTGTGGTGTGTGTATA TGTGGTGGTGTGTGTGTGCTTGTGTATTTGGTGTTTATGGTGTATGTGGT GTGTGGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0015 a0015	a0015c0025 a0015c0025	a0015c0025t0001 a0015c0025t0001	a0015c0025t0001g0034 a0015c0025t0001g0034	1	190	0.0053	315	c.128 others(336): Show c.1284+13666_1284+13667insATTGTGTGGTGTGTGGTGTGGTGT GTGTATGTGGTATGGTGTGTGTGCTTGTATATTTGGTGTTTATGCTGTAT GTGGTGTGTGGAGTGTGTGTATGTGGTGTGTGGTGTGGTGTGTGTGTTTG TGTGGTGTGTGTGTGTATGTGGCGTGTGTGTGCTTGTGTATTTGGTGTTT ATGGTGTATGTGGTGTGGTGTGTGTTTATGTGGTGTATTGTGTGGTGTGT GTGTTTGTGTGGTGTGTGTATATGTGGTGGTGTGTGTGTGCTTGTGTATT TGGTGTTTATGGTGTATGTGGTGTGTGGTGTGTGTGTTTGT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX4_chr3_125441650_125525202	125495537	T T	TTCAAATA others(308): Show TTCAAATACTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGC TGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG02451.hp1 others(7): Show HG00735.hp1 HG01074.hp1 HG02451.hp1 HG02572.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG03225.hp1 HG03453.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 others(7): Show a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154	10	360	0.0278	315	c.597 others(332): Show c.597+1803_597+1804insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGT CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAGTATTTGA	SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	5/13			chr3	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(308): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCT GGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03453.hp2 NA18522.hp1 HG03195.hp2 HG03453.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0142 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0142	3	380	0.0079	315	c.-13 others(332): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCC TCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar

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