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
SCNN1D_chr1_1275436_1297025	1288457	C C	CCGTGTCT others(99): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0068	1	290	0.0035	106	c.166 others(123): Show c.1662+421_1662+422insGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288549	C C	CCGTGTCT others(99): Show CCGTGTCTCTGCTCTGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0002 a0005c0016t0002	a0005c0016t0002g0288 a0005c0016t0002g0288	1	290	0.0035	106	c.166 others(123): Show c.1662+513_1662+514insGTGTCTCTGCTCTGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288549	C C	CGTGTCCC others(99): Show CGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCC GTCCCCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCTCT GCTCCGT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0005 a0001c0017t0005	a0001c0017t0005g0224 a0001c0017t0005g0224	1	290	0.0035	106	c.166 others(123): Show c.1662+512_1662+513insGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCCGTGTCTCTGCTCCGTCCCGTG TCTGCTCCGTCCCGTGTCTCTGCTCCGT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289035	C C	CCGTGTCT others(99): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0012 a0012	a0012c0062 a0012c0062	a0012c0062t0001 a0012c0062t0001	a0012c0062t0001g0029 a0012c0062t0001g0029	1	290	0.0035	106	c.166 others(124): Show c.1662+999_1662+1000insGTGTCTCTGCCCCGTCCCGTGTCTCTG CCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTC TCTGCCCCGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289073	C C	CCGTGTCT others(99): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTC CATCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0101 a0002c0003t0002g0101	1	290	0.0035	106	c.166 others(125): Show c.1662+1037_1662+1038insGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCCCTGCTCCATCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289263	C C	CCGTGTCT others(99): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	290	0.0035	106	c.166 others(125): Show c.1663-1007_1663-1006insGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289679	C C	CTGCTCCG others(99): Show CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGT GTCCCTGCCCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0042 a0042	a0042c0064 a0042c0064	a0042c0064t0001 a0042c0064t0001	a0042c0064t0001g0109 a0042c0064t0001g0109	1	290	0.0035	106	c.166 others(123): Show c.1663-591_1663-590insGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCCCGTGTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289928	C C	CCGTGTCT others(99): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	290	0.0035	106	c.166 others(123): Show c.1663-342_1663-341insGTGTCTCTGCTCCGTCCCCCGTGTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDF2L1_chr22_21637302_21649299	21646678	T T	TGAAAGTC others(99): Show TGAAAGTCTCAATGAGAGCTTGCAGTGAGCCGAGATCCCGCCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0008 a0003c0004t0001g0008	1	430	0.0023	106	c.25 others(117): Show c.2503_*2504insGAAAGTCTCAATGAGAGCTTGCAGTGAGCCGAGA TCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA	SDF2L1	ENSG00000128228.5	transcript	ENST00000248958.5	protein_coding		2380		chr22	TogoVar
SEPTIN9_chr17_77276499_77505593	77485007	T T	TGATGGTG others(99): Show TGATGGTGGCGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTG GTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGTG ATGGGGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0014 a0002c0002t0004g0014	1	150	0.0067	106	c.914 others(123): Show c.914-2409_914-2408insCGATTGTGATGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGG GGTGATGGTGGTGATGGGGCGATGGTGG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485007	T T	TGATGGTG others(99): Show TGATGGTGGCGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTG GTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGTG ATGGGGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0085 a0002c0002t0003g0085	1	158	0.0063	106	c.860 others(123): Show c.860-2409_860-2408insCGATTGTGATGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGG GGTGATGGTGGTGATGGGGCGATGGTGG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERAC1_chr6_158104519_158173262	158169637	A A	ATATAATG others(99): Show ATATAATGTATATTATATAATATATTGTATATTATATAATATATTGTATA TTGTATATTATATATAATATATTGTATATTATATATAATATATTGTATAT TATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	366	0.0027	106	c.-15 others(117): Show c.-1500_-1499insATATATAATATACAATATATTATATATAATATAC AATATATTATATATAATATACAATATACAATATATTATATAATATACAAT ATATTATATAATATACATTATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1376		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169751	A A	AATATATA others(99): Show AATATATAATATACAATATATTATATAATATATAATATACAATATATTAT ATATTATATAATATATTGTATATTATATATTATATATTATATAATATATT GTATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	366	0.0027	106	c.-16 others(117): Show c.-1614_-1613insAATATACAATATATTATATAATATATAATATATA ATATACAATATATTATATAATATATAATATATTGTATATTATATATTATA TAATATATTGTATATTATATAT	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1490		chr6	TogoVar
SERPINB9_chr6_2882270_2908309	2893191	T T	TATATATA others(99): Show TATATATATATATATTATATATACGTATATATATATAATATATATATATT ATATATACGTATATATATACGTATATATAATATATATATTATATATACGT ATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0120 a0001c0001t0120	a0001c0001t0120g0295 a0001c0001t0120g0295	1	462	0.0022	106	c.567 others(121): Show c.567+219_567+220insTATATATACGTATATATAATATATATATTA TATATACGTATATATATACGTATATATAATATATATATATTATATATATA TACGTATATATAATATATATATATAT	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding	5/6			chr6	TogoVar
SFTPD_chr10_79932740_79954105	79951044	T T	TGTTTGTA others(99): Show TGTTTGTATATTTTTTGCTCTATCTCTTGTTGTAAGATTTTGTTGGCATT AATGATCCTGTATTATTTTCTGTTCCTTGGTAGTTTTTGACTAAGTTTCA CTCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0007 a0004c0004t0001g0007	1	424	0.0024	106	c.-19 others(117): Show c.-1983_-1982insTATAGAGTGAAACTTAGTCAAAAACTACCAAGGA ACAGAAAATAATACAGGATCATTAATGCCAACAAAATCTTACAACAAGAG ATAGAGCAAAAAATATACAAAC	SFTPD	ENSG00000133661.17	transcript	ENST00000372292.8	protein_coding		1940		chr10	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAAGAAAG others(99): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGGAGGGAGGGAGGGA GGGAGGG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	302	0.0033	106	c.75- others(121): Show c.75-2165_75-2164insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAGGGAGGGAGGGAGGGAGGGAGGGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHANK1_chr19_50654255_50724802	50678902	G G	GATGGGAA others(99): Show GATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGA TGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTC AGTGTGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02129.hp1 HG02523.hp1 others(1): Show HG00639.hp2 HG02129.hp1 HG02523.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009	a0001c0002t0002g0258 a0001c0002t0003g0056 a0001c0002t0009g0099 others(1): Show a0001c0002t0002g0258 a0001c0002t0003g0056 a0001c0002t0009g0099 a0001c0002t0009g0171	4	316	0.0127	106	c.257 others(125): Show c.2578-6789_2578-6788insTCACACTGACCCCTCTCCATCACACT GACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCT GTAATGCTTGTAACCCTGACCCCTTCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHC2_chr19_411589_466033	458609	C C	CGGGGAGG others(99): Show CGGGGAGGCGGACGCGGGTTCCGCGGAGGCGGAAGCCGGTCTTGGGGAGG CGGAAGTGGGTTCCGGGGAGGGGGGAAGCGGGTTCCGGGGAGGCGGAAGC GGGTCTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0029 a0001c0001t0005g0029	1	212	0.0047	106	c.468 others(123): Show c.468+1919_468+1920insAAGACCCGCTTCCGCCTCCCCGGAACCC GCTTCCCCCCTCCCCGGAACCCACTTCCGCCTCCCCAAGACCGGCTTCCG CCTCCGCGGAACCCGCGTCCGCCTCCCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(99): Show TTTCCCTTCCCTTCCTTTCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCC	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18941.hp1 HG04228.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0067 a0001c0001t0057 a0001c0001t0067	a0001c0001t0057g0093 a0001c0001t0067g0015 a0001c0001t0057g0093 a0001c0001t0067g0015	2	214	0.0094	106	c.691 others(125): Show c.691+99150_691+99151insTTTCCCTTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015953	T T	TCCCTTCC others(99): Show TCCCTTCCCTTCCTTTCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02647.hp2 HG03486.hp2 HG02293.hp2 HG02647.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013	a0001c0001t0004g0041 a0001c0001t0010g0130 a0001c0001t0013g0122 a0001c0001t0004g0041 a0001c0001t0010g0130 a0001c0001t0013g0122	3	214	0.0140	106	c.691 others(125): Show c.691+99150_691+99151insTTTCCCTTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHROOM2_chrX_9781429_9954443	9920018	C C	CACTATAA others(99): Show CACTATAACTCAGACATCTCAAATCACTACAACTCATCAGACATCTCAAC TCACTATAACTCAGACAGACATCTCAACTCACTACAACTCATCAGACATC TCAACTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02886.hp1 HG03195.hp1 others(1): Show HG02559.hp1 HG02886.hp1 HG03195.hp1 NA19030.hp1	a0001 a0002 a0030 a0001 a0002 a0030	a0001c0007 a0002c0010 a0002c0013 others(1): Show a0001c0007 a0002c0010 a0002c0013 a0030c0080	a0001c0007t0001 a0002c0010t0005 a0002c0013t0033 others(1): Show a0001c0007t0001 a0002c0010t0005 a0002c0013t0033 a0030c0080t0001	a0001c0007t0001g0130 a0002c0010t0005g0241 a0002c0013t0033g0197 others(1): Show a0001c0007t0001g0130 a0002c0010t0005g0241 a0002c0013t0033g0197 a0030c0080t0001g0144	4	256	0.0156	106	c.289 others(127): Show c.2892-12142_2892-12141insTCTCAAATCACTACAACTCATCAG ACATCTCAACTCACTATAACTCAGACAGACATCTCAACTCACTACAACTC ATCAGACATCTCAACTTACTATAACTCAGACA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM3_chr4_76430229_76788253	76608663	T T	TAGCATAG others(99): Show TAGCATAGCATTGGACAGAGATGGTATAGCATAGCATAGCATAGCATAGC ATAGCACAGCATAGCATAGCACAGCACAGCACAGCACAGCACAGCACAGC ACAGCAC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0209 a0003c0002t0003g0209	1	218	0.0046	106	c.323 others(125): Show c.323+52904_323+52905insTAGCATTGGACAGAGATGGTATAGCA TAGCATAGCATAGCATAGCATAGCACAGCATAGCATAGCACAGCACAGCA CAGCACAGCACAGCACAGCACAGCACAGCA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86842876	T T	TTCTTTCT others(99): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	350	0.0029	106	c.377 others(123): Show c.377+5862_377+5863insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC22A24_chr11_63074940_63149221	63113155	T T	TATATATA others(99): Show TATATATACATATATATATACACATATATATATACATATATATACACACA TATATATACATATATATATACACATATATATACATATATATATACACATA TATATAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0002 a0011c0015t0002	a0011c0015t0002g0012 a0011c0015t0002g0012	1	366	0.0027	106	c.830 others(123): Show c.830+5756_830+5757insGTATATATATGTGTATATATATATGTAT ATATATGTGTATATATATATGTATATATATGTGTGTATATATATGTATAT ATATATGTGTATATATATATGTATATAT	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	4/9			chr11	TogoVar
SLC23A3_chr2_219156465_219175029	219159526	C C	CATATATA others(99): Show CATATATATATGCATATATATATGCATATATATATATGCATATATATATA TGCATATATATATGCATATATATATATGCATATATATATGCATATATATA TATGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	434	0.0023	106	c.23 others(117): Show c.2382_*2383insATGCATATATATATATGCATATATATATGCATAT ATATATATGCATATATATATGCATATATATATATGCATATATATATATGC ATATATATATGCATATATATAT	SLC23A3	ENSG00000213901.11	transcript	ENST00000409878.8	protein_coding		1938		chr2	TogoVar
SLC28A1_chr15_84879662_84950798	84928543	T T	TTTCTTTC others(99): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0001 a0006c0016t0001	a0006c0016t0001g0329 a0006c0016t0001g0329	1	396	0.0025	106	c.108 others(125): Show c.1083+4477_1083+4478insCTCTCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC2A4RG_chr20_63734776_63749050	63747498	T T	TCGGGGGG others(99): Show TCGGGGGGGCAGGGGGTGAGCAGGGCCTGGTGGGTGGGGGGGGCGGGGCA GGGGGTGAGCAGGGCCTGGTGGGTGGGGGGGGCAGGGGGTGAGCAGGGCC TGGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0006 a0001c0001t0008g0006	1	416	0.0024	106	c.45 others(117): Show c.4508_*4509insCGGGGGGGCAGGGGGTGAGCAGGGCCTGGTGGGT GGGGGGGGCGGGGCAGGGGGTGAGCAGGGCCTGGTGGGTGGGGGGGGCAG GGGGTGAGCAGGGCCTGGTGGG	SLC2A4RG	ENSG00000125520.14	transcript	ENST00000266077.5	protein_coding		3449		chr20	TogoVar
SLC35F1_chr6_117902264_118322671	117923718	C C	CATATACG others(99): Show CATATACGTATATGTACATATGTACATATACACATATACATATGTATATA CATATATGTACACATGTACATATACATATGTATATATGTACATATGTACA TATATGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02965.hp1 HG03130.hp1 HG01884.hp2 HG02965.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0020 a0001c0001t0008 a0001c0001t0020	a0001c0001t0008g0017 a0001c0001t0020g0033 a0001c0001t0020g0034 a0001c0001t0008g0017 a0001c0001t0020g0033 a0001c0001t0020g0034	3	182	0.0165	106	c.173 others(125): Show c.173+15824_173+15825insCGTATATGTACATATGTACATATACA CATATACATATGTATATACATATATGTACACATGTACATATACATATGTA TATATGTACATATGTACATATATGTATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923794	C C	CATATATA others(99): Show CATATATACATATGCACATACATATGTACATATATACATATGCACATACA TATGTATATATACATATGCACATACATATGTATATATACATATACACATA CATATGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA20300.hp1 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0054 a0001c0001t0025 a0001c0001t0054	a0001c0001t0025g0157 a0001c0001t0054g0156 a0001c0001t0025g0157 a0001c0001t0054g0156	2	182	0.0110	106	c.173 others(125): Show c.173+15907_173+15908insGCACATACATATGTACATATATACAT ATGCACATACATATGTATATATACATATGCACATACATATGTATATATAC ATATACACATACATATGTATATATACATAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923794	C C	CATATATA others(99): Show CATATATACATATGCACATACATATGTACATATATACATATGCACATACA TATGTATATATACATATGCACATACATATGTATATATACATATGCACATA CATATGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp2 HG02818.hp2 others(1): Show HG02717.hp2 HG02723.hp2 HG02818.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0024 a0001c0001t0033 others(1): Show a0001c0001t0007 a0001c0001t0024 a0001c0001t0033 a0001c0001t0052	a0001c0001t0007g0008 a0001c0001t0024g0110 a0001c0001t0033g0122 others(1): Show a0001c0001t0007g0008 a0001c0001t0024g0110 a0001c0001t0033g0122 a0001c0001t0052g0109	4	182	0.0220	106	c.173 others(125): Show c.173+15907_173+15908insGCACATACATATGTACATATATACAT ATGCACATACATATGTATATATACATATGCACATACATATGTATATATAC ATATGCACATACATATGTATATATACATAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC41A3_chr3_126001357_126089124	126059263	G G	GAAAGAAA others(99): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAGAGAGAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	370	0.0027	106	c.274 others(123): Show c.274-8214_274-8213insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTCTTTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTT	SLC41A3	ENSG00000114544.17	transcript	ENST00000360370.9	protein_coding	2/10			chr3	TogoVar
SLC45A4_chr8_141202174_141313288	141203284	A A	AGAGAGAG others(99): Show AGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGG AGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	188	0.0053	106	c.82 others(117): Show c.8287_*8288insCCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCCACGGTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCCACGGTCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3889		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203522	G G	GAGGGAGA others(99): Show GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGAGGGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGA GGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0165 a0001c0003t0003g0165	1	188	0.0053	106	c.80 others(117): Show c.8049_*8050insTCTCCCCTCCCTCTCTCCCTCTCTCCCTCTCTCC CTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCT	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3651		chr8	TogoVar
SLC47A2_chr17_19673317_19721584	19721111	C C	CTGGTTTT others(99): Show CTGGTTTTGGGGTTTGCATTGGGGTGGTTTGGGTTGGTGGGGGTGTGGGG TTTTGTTGTTGGGGGTGTTGGTTTTGGGGGGTTGGTTGGGTTGGGGGGTG GGGTGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0256 a0001c0002t0001g0256	1	366	0.0027	106	c.-45 others(117): Show c.-4557_-4556insACCACCCCACCCCCCAACCCAACCAACCCCCCAA AACCAACACCCCCAACAACAAAACCCCACACCCCCACCAACCCAAACCAC CCCAATGCAAACCCCAAAACCA	SLC47A2	ENSG00000180638.19	transcript	ENST00000433844.4	protein_coding		4528		chr17	TogoVar
SLC8A1_chr2_40092270_40457090	40200222	T T	TTATATAT others(99): Show TTATATATATATATAAATATATATATATATTTATATATATATAAATATAT ATATATATTTATATATATATATAAATATATATATATATATATATATAAAT ATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0172 a0001c0001t0172	a0001c0001t0172g0091 a0001c0001t0172g0091	1	236	0.0042	106	c.180 others(127): Show c.1809-21730_1809-21729insTATATATATTTATATATATATATA TATATATATTTATATATATATATAAATATATATATATATTTATATATATA TAAATATATATATATATTTATATATATATATA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLCO1A2_chr12_21259600_21339917	21311819	G G	GGGAGGCT others(99): Show GGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAACGGTTGCAG TGAGCTGAGATCATGCTAGCCGGGCGTGGTGGTAGACGCCCATAATCCCA GCTACTT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	310	0.0032	106	c.335 others(123): Show c.335+2729_335+2730insAAGTAGCTGGGATTATGGGCGTCTACCA CCACGCCCGGCTAGCATGATCTCAGCTCACTGCAACCGTTGCCTCCTGGG TTCAAGTGATTCTCCTGCCTCAGCCTCC	SLCO1A2	ENSG00000084453.17	transcript	ENST00000683939.1	protein_coding	4/14			chr12	TogoVar
SLIT2_chr4_20246905_20625561	20472250	A A	ATATATCT others(99): Show ATATATCTATATATATAGATATATATATCTATATATATCTATATATATAT ATATATATCTATATATCTATATATATAGATATATATCTATATATATAGAT ATATATC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0149 a0001c0004t0009g0149	1	230	0.0044	106	c.467 others(123): Show c.467+4431_467+4432insTCTATATATATAGATATATATATCTATA TATATCTATATATATATATATATATCTATATATCTATATATATAGATATA TATCTATATATATAGATATATATCTATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMOC2_chr6_168436184_168672992	168668970	C C	CGTCCCCC others(99): Show CGTCCCCCTCCCCCACACCCTACGCCCCCCCCACGCCCCACGTCCCCCCT CCCCCACACCCCAGGTCCCCCTCCCCCACACCCTGCATCCCCTCCCCCAC GCCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02109.hp1 HG02572.hp1 others(7): Show HG02074.hp2 HG02109.hp1 HG02572.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03139.hp1 HG03516.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0001c0013	a0001c0001t0001 a0001c0002t0002 a0001c0008t0002 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0008t0002 a0001c0013t0002	a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 others(7): Show a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0124 a0001c0001t0001g0142 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0002t0002g0044 a0001c0008t0002g0042 a0001c0013t0002g0033	10	180	0.0556	106	c.25 others(117): Show c.2532_*2533insGTCCCCCTCCCCCACACCCTACGCCCCCCCCACG CCCCACGTCCCCCCTCCCCCACACCCCAGGTCCCCCTCCCCCACACCCTG CATCCCCTCCCCCACGCCTGCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding		979		chr6	TogoVar
SNTG2_chr2_945849_1372613	1222117	C C	CTCTGTCT others(99): Show CTCTGTCTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCT CTGTCTCTGCCTATCTCTGTCTCTGTTTCTCTCTGTCTCTGTCTCTGTCT CTCTCTG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0060 a0003c0008t0001g0060	1	190	0.0053	106	c.719 others(125): Show c.719+12890_719+12891insGTCTCTCTCTCTGTCTCTGTCTCTCT CTGTCTCTCTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTTTCT CTCTGTCTCTGTCTCTGTCTCTCTCTGTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX6_chr14_34556093_34635148	34557555	T T	TCTTCTTC others(99): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTTT CTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0070 a0001c0002t0002g0070	1	322	0.0031	106	c.55 others(117): Show c.5566_*5567insGAAGAAGAAAGGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAG	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3537		chr14	TogoVar
SNX9_chr6_157818246_157950077	157827182	T T	TTATAGTT others(99): Show TTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATAAACATATAGTTTATATAATAT ATAAACA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0272 a0001c0003t0003g0272	1	302	0.0033	106	c.12+ others(121): Show c.12+3822_12+3823insGTTTATATAATATATAAACATATAGTTTAT ATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOX5_chr12_23524504_23954670	23837279	T T	TTATATTT others(99): Show TTATATTTATATAATATATAATATATATTTATATTTATATAATATATAAG ATATATTTATATTTATATAATATATAAGATATATTTATATTTATATAATA TATAAGA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01993.hp1 HG01928.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0008 a0001c0001t0009	a0001c0001t0008g0037 a0001c0001t0009g0017 a0001c0001t0008g0037 a0001c0001t0009g0017	2	212	0.0094	106	c.481 others(123): Show c.481+8703_481+8704insTCTTATATATTATATAAATATAAATATA TCTTATATATTATATAAATATAAATATATCTTATATATTATATAAATATA AATATATATTATATATTATATAAATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23837279	T T	TTATATTT others(99): Show TTATATTTATATAATATATAATATATATTTATATTTATATAATATATAAT ATATATTTATATTTATATAATATATAAGATATATTTATATTTATATAATA TATAAGA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0055 a0001c0001t0099g0055	1	212	0.0047	106	c.481 others(123): Show c.481+8703_481+8704insTCTTATATATTATATAAATATAAATATA TCTTATATATTATATAAATATAAATATATATTATATATTATATAAATATA AATATATATTATATATTATATAAATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SPAAR_chr9_35904490_35916686	35913914	T T	TAGTGTGT others(99): Show TAGTGTGTGTATTTTTTTATGCTGTAGTGTGTGTAAGTTGTATGTGTGTA GTGTGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTG TGTAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	420	0.0024	106	c.32 others(117): Show c.3223_*3224insAGTGTGTGTATTTTTTTATGCTGTAGTGTGTGTA AGTTGTATGTGTGTAGTGTGTGTGTGTGTTTTTGTATGCTGTGGTGTGTG TGTAAGTTGTATGTGTGTAGTG	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2229		chr9	TogoVar
SPATA13_chr13_24155720_24312069	24189953	T T	TTATATAT others(99): Show TTATATATAATTATATATAATATATTACGTAATATATTATATATAATTAT ATAATATATTACGTAATATATTATATATAATTATATAATATATTACGTAA TATATTA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03195.hp1 HG03516.hp2 HG02630.hp2 HG03195.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0024 a0002c0007 a0002c0008 a0001c0024 a0002c0007 a0002c0008	a0001c0024t0100 a0002c0007t0031 a0002c0008t0095 a0001c0024t0100 a0002c0007t0031 a0002c0008t0095	a0001c0024t0100g0350 a0002c0007t0031g0214 a0002c0008t0095g0155 a0001c0024t0100g0350 a0002c0007t0031g0214 a0002c0008t0095g0155	3	356	0.0084	106	c.-11 others(127): Show c.-112+29027_-112+29028insTAATTATATATAATATATTACGTA ATATATTATATATAATTATATAATATATTACGTAATATATTATATATAAT TATATAATATATTACGTAATATATTATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SREBF1_chr17_17806334_17841986	17809578	C C	CGCCCACC others(99): Show CGCCCACCCCCAGGAGCCCCCGCCGCCGTCCAGCTCAGGTCCCTGTCCAC TTGCGCGCCGCCGCCGCCGAAAACCCGCAGGCGTCGGGGCATGGGCAGCC AGGGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	352	0.0028	106	c.29 others(117): Show c.2938_*3043dupAGCCCCTGGCTGCCCATGCCCCGACGCCTGCGGG TTTTCGGCGGCGGCGGCGCGCAAGTGGACAGGGACCTGAGCTGGACGGCG GCGGGGGCTCCTGGGGGTGGGC	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding		1755		chr17	TogoVar
SRRM3_chr7_76196896_76292287	76266232	A A	AATATATA others(99): Show AATATATATAAATATTTATATATTTAATATATATAAATATTTATATATTT AATATATATATAAATATTTATATATTTAATATATATATAAATATTTATAT ATTTAAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0322 a0007c0012t0001g0322	1	324	0.0031	106	c.830 others(121): Show c.830+795_830+796insATAAATATTTATATATTTAATATATATATA AATATTTATATATTTAATATATATATAAATATTTATATATTTAATATATA TATAAATATTTATATATTTAATATAT	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST3GAL3_chr1_43702536_43936159	43817597	C C	CCCCTCTC others(99): Show CCCCTCTCCTTCTCCTCCTTCTCCTCCTCCCTTCTCCTCCTCCTTCTCCT CCTCCTCCTTCTCCTTCTTCTCCTTCTTCCTTCTCCTTCCTTCTTCTTCT CCTTCTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18522.hp2 HG02055.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0159 a0001c0001t0001g0134 a0001c0001t0001g0159	2	274	0.0073	106	c.209 others(123): Show c.209+2666_209+2667insCTCTCCTTCTCCTCCTTCTCCTCCTCCC TTCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTTCTTCTCCTTCTTCCT TCTCCTTCCTTCTTCTTCTCCTTCTTCC	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43905162	C C	CCTCTCCG others(99): Show CCTCTCCGTCCTCCTGTTCCCCTTCCCACCACTCTTCCTCTCCGTCCTCC TGTTCCCCTTCCTGTCACTTTTCCTCCCCCTCCTTCTGCTCCTATTCCTG CCACTGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	274	0.0037	106	c.744 others(123): Show c.744+5435_744+5436insCTCTCCGTCCTCCTGTTCCCCTTCCCAC CACTCTTCCTCTCCGTCCTCCTGTTCCCCTTCCTGTCACTTTTCCTCCCC CTCCTTCTGCTCCTATTCCTGCCACTGT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11			chr1	TogoVar
STAP2_chr19_4319043_4343827	4334809	T T	TCATCCAT others(99): Show TCATCCATCCATTCATCTATCCATCCACCCACTGTCCATCATCCATCCAC CCACTCATCCATCCATCCACCCATCCATCCACCCACTCATCCATCCACCC ACTCATC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0143	1	388	0.0026	106	c.103 others(121): Show c.103-766_103-765insGATGAGTGGGTGGATGGATGAGTGGGTGGA TGGATGGGTGGATGGATGGATGAGTGGGTGGATGGATGATGGACAGTGGG TGGATGGATAGATGAATGGATGGATG	STAP2	ENSG00000178078.12	transcript	ENST00000594605.6	protein_coding	1/12			chr19	TogoVar

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