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
SH3BGR_chr21_39446970_39520504	39510408	CACACACA others(47): Show CACACACACACACACTGTAGCTACACACACACACACACACACACACACTG TAGCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG02630.hp1 others(1): Show HG00642.hp1 HG00735.hp2 HG02630.hp1 HG02717.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0239 a0003c0003t0004g0241 a0003c0003t0004g0277 others(1): Show a0003c0003t0004g0239 a0003c0003t0004g0241 a0003c0003t0004g0277 a0003c0003t0004g0278	4	300	0.0133	-54	c.436 others(71): Show c.436-1257_436-1204delTGTAGCTACACACACACACACACACACA CACACTGTAGCTACACACACACACAC	SH3BGR	ENSG00000185437.16	transcript	ENST00000333634.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368472	ATATATAT others(47): Show ATATATATATAAAATATATATATATTATATATATATATATAAAATATATA TATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0007 a0001c0001t0034g0007	1	277	0.0036	-54	c.427 others(71): Show c.427+5264_427+5317delATATATATATATTTTATATATATATATA TAATATATATATATTTTATATATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SHC2_chr19_411589_466033	431421	TTAGAGGA others(47): Show TTAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTG AGAGA	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02055.hp1 HG02258.hp2 HG01978.hp1 HG02055.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0181 a0001c0001t0003g0005 a0001c0001t0003g0181	3	203	0.0148	-54	c.111 others(71): Show c.1111-728_1111-675delTCTCTCACTCACGATCTCACTCACGATG AAGCGCCATCTGCCCGGCCTCCTCTA	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432874	TAGATGGC others(47): Show TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGC CGGGC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0069 a0001c0001t0016g0069	1	210	0.0048	-54	c.111 others(73): Show c.1110+1781_1110+1834delGCCCGGCCTCCTCTAACTCTCACTCA CGATCTCACTCACGATGAAGCGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	433504	TAGATGGC others(47): Show TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGC CGGGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01978.hp1 HG02055.hp1 others(4): Show HG01891.hp2 HG01978.hp1 HG02055.hp1 HG02258.hp2 HG02622.hp2 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0018 a0001c0001 a0001c0013 a0001c0018	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0013t0005 a0001c0018t0006	a0001c0001t0002g0035 a0001c0001t0003g0005 a0001c0001t0003g0181 others(3): Show a0001c0001t0002g0035 a0001c0001t0003g0005 a0001c0001t0003g0181 a0001c0001t0005g0102 a0001c0013t0005g0006 a0001c0018t0006g0180	7	209	0.0335	-54	c.111 others(73): Show c.1110+1151_1110+1204delGCCCGGCCTCCTCTAACTCTCACTCA CGATCTCACTCACGATGAAGCGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHISA9_chr16_12896598_13245416	12943312	TGTGTGTG others(47): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01496.hp1 HG02559.hp1 others(2): Show HG01167.hp2 HG01496.hp1 HG02559.hp1 HG03710.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0027 others(2): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0027 a0001c0001t0039 a0001c0001t0096	a0001c0001t0004g0006 a0001c0001t0008g0129 a0001c0001t0027g0014 others(2): Show a0001c0001t0004g0006 a0001c0001t0008g0129 a0001c0001t0027g0014 a0001c0001t0039g0158 a0001c0001t0096g0103	5	191	0.0262	-54	c.691 others(73): Show c.691+26499_691+26552delTGTGTGTGTGTGTGTGTGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SIGIRR_chr11_400716_419999	401733	ACCCCCGA others(47): Show ACCCCCGACCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGCTCACCC CCGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	168	0.0060	-54	c.41 others(65): Show c.4109_*4162delGTCGGGGGTGAGCGGGGCGGGGGTGAGCGGGGCG GGGGTGAGCGGGGTCGGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3982		chr11	TogoVar
SIGIRR_chr11_400716_419999	401987	CACCCCCG others(47): Show CACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCAC CCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	239	0.0042	-54	c.38 others(65): Show c.3855_*3908delCGGGGGTGAGCGGGGTCCGGGGTGAGCGGGGCCG GGGTCAGTGGAGCCGGGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3728		chr11	TogoVar
SIGIRR_chr11_400716_419999	402392	CCCCGGAC others(47): Show CCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCC ACTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0189 a0001c0006t0001g0189	1	240	0.0042	-54	c.34 others(65): Show c.3450_*3503delTCAGTGGAGCCGGGGGTGAGCGGGGCCGGGGGTC GGGGGTGAGCGGGGTCCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3323		chr11	TogoVar
SIGIRR_chr11_400716_419999	402462	CCCCGGAC others(47): Show CCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCC ACTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02027.hp2 HG01243.hp1 HG02027.hp2	a0001 a0004 a0001 a0004	a0001c0006 a0004c0008 a0001c0006 a0004c0008	a0001c0006t0001 a0004c0008t0001 a0001c0006t0001 a0004c0008t0001	a0001c0006t0001g0096 a0004c0008t0001g0047 a0001c0006t0001g0096 a0004c0008t0001g0047	2	184	0.0109	-54	c.33 others(65): Show c.3380_*3433delTCAGTGGAGCCGGGGGTGAGCGGGGCCGGGGGTC GGGGGTGAGCGGGGTCCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3253		chr11	TogoVar
SIGIRR_chr11_400716_419999	402483	GACCCCCG others(47): Show GACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCAC CCCGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0191 a0001c0004t0001g0191	1	237	0.0042	-54	c.33 others(65): Show c.3359_*3412delTCGGGGTGAGCGGGGCCGGGGTCAGTGGAGCCGG GGGTGAGCGGGGCCGGGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3232		chr11	TogoVar
SIM1_chr6_100380009_100469921	100412583	GAAAGAAA others(47): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAGGAAAGAAAG AAAGA	G G	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02602.hp1 HG03831.hp2 others(1): Show HG02300.hp2 HG02602.hp1 HG03831.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0002c0002t0001 a0002c0002t0006 a0002c0002t0007	a0002c0002t0001g0272 a0002c0002t0001g0315 a0002c0002t0006g0192 others(1): Show a0002c0002t0001g0272 a0002c0002t0001g0315 a0002c0002t0006g0192 a0002c0002t0007g0099	4	314	0.0127	-54	c.116 others(73): Show c.1167+8153_1167+8206delTCTTTCTTTCTTTCCTTCTTTCTTTC CTTTCTTTCTTTCTTTCTTTCTTTCTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIM2_chr21_36694115_36754917	36736752	CCTCCCTC others(47): Show CCTCCCTCCCTCCCTTTCTTCTTTCTTTCTTTTCCTTCTTTCTTTTTCTT TCTGT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0346 a0001c0001t0046g0346	1	408	0.0025	-54	c.851 others(71): Show c.851-4962_851-4909delCCCTCCCTCCCTTTCTTCTTTCTTTCTT TTCCTTCTTTCTTTTTCTTTCTGTCT	SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
SIPA1L1_chr14_71315476_71746209	71543814	TGTATGTG others(47): Show TGTATGTGTATATATACATATATCATATGTATGTGTATATATACATATAT CATAC	T T	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19056.hp2 NA19007.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0168 a0001c0002t0001g0135 a0001c0001t0004g0168 a0001c0002t0001g0135	2	172	0.0116	-54	c.-30 others(75): Show c.-303+14471_-303+14524delTGTATGTGTATATATACATATATC ATACGTATGTGTATATATACATATATCATA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SLA2_chr20_36607318_36651196	36609165	ACACACAC others(47): Show ACACACACACACACACACACACACACACACGCACACACGCACACACGCAC ACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0026 a0001c0001t0009g0026	1	358	0.0028	-54	c.46 others(65): Show c.4647_*4700delCGTGTGTGCGTGTGTGCGTGTGTGCGTGTGTGTG TGTGTGTGTGTGTGTGTGTG	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3152		chr20	TogoVar
SLC10A6_chr4_86818468_86854384	86842816	TTCTTTCT others(47): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0198 a0007c0012t0001g0198	1	348	0.0029	-54	c.377 others(71): Show c.377+5869_377+5922delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC12A7_chr5_1045384_1117063	1069994	GCCCCCAG others(47): Show GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAG TGAGC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0004 a0004	a0004c0033 a0004c0033	a0004c0033t0004 a0004c0033t0004	a0004c0033t0004g0072 a0004c0033t0004g0072	1	113	0.0088	-54	c.224 others(73): Show c.2241+3585_2241+3638delGCTCACTGGGGGCTGCATAAGTGTGA TGCCCGTGTGCTGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070017	CGGGCATC others(47): Show CGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGC ACACG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03927.hp2 HG04204.hp1 HG01255.hp2 HG03927.hp2 HG04204.hp1	a0001 a0001	a0001c0006 a0001c0030 a0001c0035 a0001c0006 a0001c0030 a0001c0035	a0001c0006t0001 a0001c0030t0001 a0001c0035t0001 a0001c0006t0001 a0001c0030t0001 a0001c0035t0001	a0001c0006t0001g0048 a0001c0030t0001g0105 a0001c0035t0001g0054 a0001c0006t0001g0048 a0001c0030t0001g0105 a0001c0035t0001g0054	3	95	0.0316	-54	c.224 others(73): Show c.2241+3562_2241+3615delCGTGTGCTGGGGGCTCACTGGGGGCT CACTGGGGGCTGCATAAGTGTGATGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072314	GCCCCCAG others(47): Show GCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATCACACTTAT GCAGC	G G	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0031 a0002c0011t0002g0031	1	103	0.0097	-54	c.224 others(73): Show c.2241+1265_2241+1318delGCTGCATAAGTGTGATGCCAGTGTGC TGGGGGCTCACTGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072431	CGGGCATC others(47): Show CGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGC ACACG	C C	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0034 a0002c0011t0002g0034	1	110	0.0091	-54	c.224 others(73): Show c.2241+1148_2241+1201delCGTGTGCTGGGGGCTCACTGGGGGCT CACTGGGGGCTGCATAAGTGTGATGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072630	CGGGCATC others(47): Show CGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGC ACACT	C C	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0033 a0001c0001t0023g0033	1	96	0.0104	-54	c.224 others(72): Show c.2241+949_2241+1002delAGTGTGCTGGGGGCTCACTGGGGGCTC ACTGGGGGCTGCATAAGTGTGATGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072649	GCCCCCAG others(47): Show GCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATCACACTTAT GCAGC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0009 a0006c0019t0009	a0006c0019t0009g0013 a0006c0019t0009g0013	1	101	0.0099	-54	c.224 others(71): Show c.2241+930_2241+983delGCTGCATAAGTGTGATGCCAGTGTGCTG GGGGCTCACTGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072913	CGGGCATC others(47): Show CGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGC ACACG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0020 a0001c0018t0020	a0001c0018t0020g0076 a0001c0018t0020g0076	1	109	0.0092	-54	c.224 others(71): Show c.2241+666_2241+719delCGTGTGCTGGGGGCTCACTGGGGGCTCA CTGGGGGCTGCATAAGTGTGATGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073122	GCCCCCAG others(47): Show GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAG TGAGC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA19011.hp1 HG00741.hp1 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0023 a0001c0009 a0002c0023	a0001c0009t0002 a0002c0023t0004 a0001c0009t0002 a0002c0023t0004	a0001c0009t0002g0114 a0002c0023t0004g0010 a0001c0009t0002g0114 a0002c0023t0004g0010	2	106	0.0189	-54	c.224 others(71): Show c.2241+457_2241+510delGCTCACTGGGGGCTGCATAAGTGTGATG CCCGTGTGCTGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073145	CGGGCATC others(47): Show CGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGC ACACG	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0077 a0001c0005t0013g0077	1	108	0.0093	-54	c.224 others(71): Show c.2241+434_2241+487delCGTGTGCTGGGGGCTCACTGGGGGCTCA CTGGGGGCTGCATAAGTGTGATGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073164	GCCCCCAG others(47): Show GCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAT GCAGC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0014 a0001c0003t0003g0014	1	105	0.0095	-54	c.224 others(71): Show c.2241+415_2241+468delGCTGCATAAGTGTGATGCCCGTGTGCTG GGGGCTCACTGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC16A3_chr17_82224042_82245086	82224250	AGTCACCT others(47): Show AGTCACCTGTGCAGACACACCCCTACACCCGTGCAGACACACCCCTACAC CTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0096 a0001c0001t0011g0096	1	401	0.0025	-54	c.-48 others(65): Show c.-4882_-4829delGTCACCTGTGCAGACACACCCCTACACCCGTGCA GACACACCCCTACACCTGTG	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		4791		chr17	TogoVar
SLC17A9_chr20_62947709_62974585	62957819	ATGGGCAT others(47): Show ATGGGCATGCCCGCGTGCATGCGTGCACCTGTGCGTGTGCGTGTGCAAGT GTGTG	A A	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18980.hp1 NA18939.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0194 a0001c0001t0001g0128 a0001c0001t0001g0194	2	430	0.0047	-54	c.397 others(69): Show c.397+241_397+294delGGGCATGCCCGCGTGCATGCGTGCACCTGT GCGTGTGCGTGTGCAAGTGTGTGT	SLC17A9	ENSG00000101194.18	transcript	ENST00000370351.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC22A31_chr16_89190761_89205537	89193055	TCCGCCTC others(47): Show TCCGCCTCCTCCCTAACCCCGCCCCCTCATTACCAGCCACGCCCCTTCTC CACTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0001 a0006c0023t0001	a0006c0023t0001g0062 a0006c0023t0001g0062	1	426	0.0023	-54	c.28 others(65): Show c.2890_*2943delCAGTGGAGAAGGGGCGTGGCTGGTAATGAGGGGG CGGGGTTAGGGAGGAGGCGG	SLC22A31	ENSG00000259803.8	transcript	ENST00000682282.1	protein_coding		2705		chr16	TogoVar
SLC24A3_chr20_19207642_19727926	19346217	TATATGTA others(47): Show TATATGTATATATGGTATATATATATGGTGTATATATATATGGTATATAT ATATG	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02615.hp1 HG02723.hp1 others(3): Show HG01361.hp2 HG02615.hp1 HG02723.hp1 HG03195.hp2 HG03540.hp1 NA20752.hp2	a0001 a0001	a0001c0004 a0001c0009 a0001c0023 a0001c0004 a0001c0009 a0001c0023	a0001c0004t0001 a0001c0004t0003 a0001c0009t0007 others(1): Show a0001c0004t0001 a0001c0004t0003 a0001c0009t0007 a0001c0023t0001	a0001c0004t0001g0074 a0001c0004t0001g0086 a0001c0004t0001g0105 others(3): Show a0001c0004t0001g0074 a0001c0004t0001g0086 a0001c0004t0001g0105 a0001c0004t0003g0115 a0001c0009t0007g0146 a0001c0023t0001g0149	6	160	0.0375	-54	c.271 others(73): Show c.271+65131_271+65184delATATGTATATATGGTATATATATATG GTGTATATATATATGGTATATATATATG	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	2/16			chr20	TogoVar
SLC28A1_chr15_84879662_84950798	84906535	TCTTTCTT others(47): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTCCTTCCTT CCTTC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0373 a0001c0012t0004g0374 a0001c0012t0004g0375 a0001c0012t0004g0373 a0001c0012t0004g0374 a0001c0012t0004g0375	3	381	0.0079	-54	c.717 others(69): Show c.717+887_717+940delTCTTTCTTTCTTTCTTTCTTTCTTTCTCTT TCTTTCTTCCTTCCTTCCTTCCTT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84906539	TCTTTCTT others(47): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTCCTTCCTTCCTT CCTTC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0044 a0001c0004t0003g0044	1	386	0.0026	-54	c.717 others(69): Show c.717+891_717+944delTCTTTCTTTCTTTCTTTCTTTCTCTTTCTT TCTTCCTTCCTTCCTTCCTTCCTT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC2A12_chr6_133982581_134057624	134032414	ATATATAT others(47): Show ATATATATATATTTATATATATATATATATATATAAATATATATATATAT ATTTT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0185 a0001c0001t0004g0185	1	336	0.0030	-54	c.104 others(71): Show c.104-2747_104-2694delAAAATATATATATATATATTTATATATA TATATATATATATAAATATATATATA	SLC2A12	ENSG00000146411.6	transcript	ENST00000275230.6	protein_coding	1/4			chr6	TogoVar
SLC2A14_chr12_7807514_7877915	7874920	TATATATT others(47): Show TATATATTTATATATAATTTATATATAAATATATTTATATATAAATTATA TATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(166): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18962.hp1 NA18969.hp1 NA18970.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19054.hp2 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0002 a0001c0003 a0001c0004 others(11): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0016 a0002c0001 a0002c0009 a0002c0010 a0002c0013 a0003c0012 a0005c0017	a0001c0002t0003 a0001c0003t0001 a0001c0003t0010 others(19): Show a0001c0002t0003 a0001c0003t0001 a0001c0003t0010 a0001c0003t0013 a0001c0004t0001 a0001c0005t0005 a0001c0005t0006 a0001c0006t0004 a0001c0006t0009 a0001c0006t0017 a0001c0007t0004 a0001c0007t0007 a0001c0007t0009 a0001c0008t0001 a0001c0016t0008 a0002c0001t0001 a0002c0001t0002 a0002c0009t0002 a0002c0010t0002 a0002c0013t0002 a0003c0012t0011 a0005c0017t0002	a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0082 others(165): Show a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0082 a0001c0002t0003g0085 a0001c0002t0003g0087 a0001c0002t0003g0088 a0001c0002t0003g0090 a0001c0002t0003g0091 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0003g0094 a0001c0002t0003g0099 a0001c0002t0003g0104 a0001c0002t0003g0114 a0001c0002t0003g0117 a0001c0002t0003g0118 a0001c0002t0003g0121 a0001c0002t0003g0135 a0001c0002t0003g0137 a0001c0002t0003g0138 a0001c0002t0003g0139 a0001c0002t0003g0141 a0001c0002t0003g0143 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0163 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0263 a0001c0003t0001g0083 a0001c0003t0001g0095 a0001c0003t0001g0108 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0177 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0244 a0001c0003t0010g0098 a0001c0003t0013g0164 a0001c0004t0001g0096 a0001c0004t0001g0097 a0001c0004t0001g0115 a0001c0004t0001g0119 a0001c0004t0001g0120 a0001c0004t0001g0122 a0001c0004t0001g0134 a0001c0004t0001g0140 a0001c0004t0001g0144 a0001c0004t0001g0166 a0001c0004t0001g0183 a0001c0004t0001g0184 a0001c0004t0001g0236 a0001c0004t0001g0237 a0001c0004t0001g0248 a0001c0004t0001g0262 a0001c0004t0001g0266 a0001c0004t0001g0267 a0001c0004t0001g0268 a0001c0004t0001g0348 a0001c0005t0005g0126 a0001c0005t0005g0136 a0001c0005t0005g0167 a0001c0005t0005g0168 a0001c0005t0005g0213 a0001c0005t0005g0224 a0001c0005t0005g0229 a0001c0005t0005g0249 a0001c0005t0006g0157 a0001c0005t0006g0158 a0001c0005t0006g0159 a0001c0005t0006g0161 a0001c0005t0006g0165 a0001c0005t0006g0172 a0001c0005t0006g0173 a0001c0005t0006g0252 a0001c0006t0004g0123 a0001c0006t0004g0124 a0001c0006t0004g0127 a0001c0006t0004g0150 a0001c0006t0004g0152 a0001c0006t0004g0156 a0001c0006t0004g0207 a0001c0006t0004g0212 a0001c0006t0004g0220 a0001c0006t0004g0233 a0001c0006t0004g0246 a0001c0006t0009g0081 a0001c0006t0017g0181 a0001c0007t0004g0089 a0001c0007t0004g0203 a0001c0007t0004g0204 a0001c0007t0004g0230 a0001c0007t0007g0209 a0001c0007t0007g0211 a0001c0007t0007g0234 a0001c0007t0007g0269 a0001c0007t0009g0291 a0001c0008t0001g0084 a0001c0008t0001g0110 a0001c0008t0001g0201 a0001c0008t0001g0238 a0001c0008t0001g0239 a0001c0008t0001g0240 a0001c0008t0001g0242 a0001c0016t0008g0106 a0002c0001t0001g0232 a0002c0001t0002g0001 a0002c0001t0002g0086 a0002c0001t0002g0100 a0002c0001t0002g0101 a0002c0001t0002g0103 a0002c0001t0002g0105 a0002c0001t0002g0111 a0002c0001t0002g0112 a0002c0001t0002g0113 a0002c0001t0002g0116 a0002c0001t0002g0130 a0002c0001t0002g0133 a0002c0001t0002g0142 a0002c0001t0002g0151 a0002c0001t0002g0154 a0002c0001t0002g0155 a0002c0001t0002g0160 a0002c0001t0002g0162 a0002c0001t0002g0169 a0002c0001t0002g0178 a0002c0001t0002g0180 a0002c0001t0002g0208 a0002c0001t0002g0210 a0002c0001t0002g0214 a0002c0001t0002g0215 a0002c0001t0002g0216 a0002c0001t0002g0217 a0002c0001t0002g0223 a0002c0001t0002g0227 a0002c0001t0002g0228 a0002c0001t0002g0231 a0002c0001t0002g0241 a0002c0001t0002g0245 a0002c0001t0002g0247 a0002c0001t0002g0250 a0002c0001t0002g0251 a0002c0001t0002g0255 a0002c0001t0002g0259 a0002c0001t0002g0265 a0002c0001t0002g0302 a0002c0009t0002g0109 a0002c0009t0002g0174 a0002c0009t0002g0264 a0002c0010t0002g0153 a0002c0013t0002g0182 a0003c0012t0011g0125 a0005c0017t0002g0131	169	347	0.4870	-54	c.-22 others(65): Show c.-2225_-2172delTTATATATAATTTATATATAAATATATTTATATA TAAATTATATATAAATATAT	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding		2006		chr12	TogoVar
SLC34A1_chr5_177379434_177403848	177396461	GCTCTCCC others(47): Show GCTCTCCCAGTGCCCCCGCGGAGGTCCTCTCTCCCAGTGCCCCCGCGGAG GTCCT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp2 HG02717.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0151 a0001c0001t0003g0056 a0001c0001t0003g0151	2	414	0.0048	-54	c.117 others(76): Show c.1175-272_1175-218delGCTCTCCCAGTGCCCCCGCGGAGGTCCT CTCTCCCAGTGCCCCCGCGGAGGTCCTinsA	SLC34A1	ENSG00000131183.11	transcript	ENST00000324417.6	protein_coding	10/12			chr5	TogoVar
SLC35E3_chr12_68741176_68786468	68781069	GTGGATGT others(47): Show GTGGATGTCTTTGGGGAAGAAAAATTCAGGATGAGTTTATTGAGAGCATT ATTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp2 HG01167.hp1 HG01361.hp1 others(31): Show HG01069.hp2 HG01167.hp1 HG01361.hp1 HG01891.hp1 HG02055.hp1 HG02257.hp1 HG02257.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03516.hp2 HG06807.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0037 a0001c0001t0038 others(25): Show a0001c0001t0027 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0074 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0001t0154 a0001c0001t0164 a0001c0001t0165 a0001c0001t0166 a0001c0001t0167 a0001c0001t0170 a0001c0001t0173 a0001c0001t0174 a0001c0001t0175 a0001c0001t0176 a0001c0001t0293	a0001c0001t0027g0117 a0001c0001t0027g0118 a0001c0001t0037g0012 others(30): Show a0001c0001t0027g0117 a0001c0001t0027g0118 a0001c0001t0037g0012 a0001c0001t0037g0169 a0001c0001t0038g0012 a0001c0001t0038g0050 a0001c0001t0039g0041 a0001c0001t0040g0053 a0001c0001t0040g0182 a0001c0001t0041g0178 a0001c0001t0041g0181 a0001c0001t0057g0037 a0001c0001t0058g0037 a0001c0001t0059g0073 a0001c0001t0074g0183 a0001c0001t0147g0012 a0001c0001t0148g0173 a0001c0001t0149g0012 a0001c0001t0150g0012 a0001c0001t0151g0172 a0001c0001t0152g0168 a0001c0001t0153g0012 a0001c0001t0154g0050 a0001c0001t0164g0180 a0001c0001t0165g0186 a0001c0001t0166g0179 a0001c0001t0167g0185 a0001c0001t0170g0233 a0001c0001t0173g0232 a0001c0001t0174g0102 a0001c0001t0175g0127 a0001c0001t0176g0231 a0001c0001t0293g0191	34	434	0.0783	-54	c.16 others(67): Show c.16182_*16235delGATGTCTTTGGGGAAGAAAAATTCAGGATGAG TTTATTGAGAGCATTATTTTTG	SLC35E3	ENSG00000175782.11	transcript	ENST00000398004.4	protein_coding	5/5	16182	INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC38A10_chr17_81239811_81300307	81253715	CCATCATC others(47): Show CCATCATCACCATCTCCATCCCTACCACCATCACCATCATCATCACCGTC ACCAT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0012 a0001c0003t0001g0012	1	210	0.0048	-54	c.128 others(71): Show c.1289-529_1289-476delATGGTGACGGTGATGATGATGGTGATGG TGGTAGGGATGGAGATGGTGATGATG	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	11/15			chr17	TogoVar
SLC38A10_chr17_81239811_81300307	81253737	TACCACCA others(47): Show TACCACCATCACCATCATCATCACCGTCACCATCATCACCATCTCCATCC CTACC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01081.hp1 HG01106.hp1 others(9): Show HG00323.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01993.hp2 HG02280.hp2 HG03017.hp2 NA18947.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0033 others(1): Show a0001c0003 a0001c0008 a0001c0033 a0001c0034	a0001c0003t0001 a0001c0008t0001 a0001c0033t0001 others(1): Show a0001c0003t0001 a0001c0008t0001 a0001c0033t0001 a0001c0034t0001	a0001c0003t0001g0032 a0001c0003t0001g0069 a0001c0003t0001g0070 others(9): Show a0001c0003t0001g0032 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0008t0001g0033 a0001c0008t0001g0034 a0001c0008t0001g0035 a0001c0008t0001g0037 a0001c0008t0001g0038 a0001c0008t0001g0039 a0001c0008t0001g0080 a0001c0033t0001g0036 a0001c0034t0001g0040	12	212	0.0566	-54	c.128 others(71): Show c.1289-551_1289-498delGGTAGGGATGGAGATGGTGATGATGGTG ACGGTGATGATGATGGTGATGGTGGT	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	11/15			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	72669879	CACGTATA others(47): Show CACGTATAGATGTATATACACATATATATACGTATAGATGTATATACACA TATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp1 HG01074.hp1 others(39): Show HG00438.hp2 HG00738.hp1 HG01074.hp1 HG01346.hp1 HG01433.hp1 HG01891.hp1 HG02015.hp2 HG02040.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp2 HG03453.hp1 HG03486.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG04115.hp1 HG06807.hp1 NA18747.hp2 NA18983.hp2 NA18999.hp2 NA19012.hp2 NA19057.hp2 NA19064.hp2 NA19065.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0008 others(7): Show a0001c0001 a0001c0006 a0001c0008 a0001c0010 a0001c0019 a0001c0020 a0002c0002 a0002c0004 a0003c0003 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0010t0003 a0001c0019t0003 a0001c0020t0001 a0002c0002t0001 a0002c0002t0002 a0002c0004t0002 a0002c0004t0003 a0002c0004t0007 a0002c0004t0013 a0003c0003t0001 a0003c0003t0006 a0003c0007t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(39): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0139 a0001c0001t0001g0167 a0001c0001t0002g0022 a0001c0001t0002g0031 a0001c0001t0002g0147 a0001c0001t0003g0029 a0001c0001t0004g0177 a0001c0001t0005g0088 a0001c0001t0005g0145 a0001c0001t0006g0012 a0001c0001t0011g0075 a0001c0001t0016g0086 a0001c0001t0017g0078 a0001c0001t0020g0154 a0001c0006t0001g0079 a0001c0006t0001g0106 a0001c0006t0002g0040 a0001c0008t0001g0117 a0001c0010t0003g0021 a0001c0019t0003g0002 a0001c0020t0001g0024 a0002c0002t0001g0126 a0002c0002t0002g0035 a0002c0004t0002g0032 a0002c0004t0003g0168 a0002c0004t0007g0115 a0002c0004t0013g0077 a0003c0003t0001g0098 a0003c0003t0001g0109 a0003c0003t0006g0006 a0003c0007t0001g0014	42	176	0.2386	-54	c.672 others(73): Show c.672-20665_672-20612delATATATGTGTATATACATCTATACGT ATATATATGTGTATATACATCTATACGT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	7/9			chr17	TogoVar
SLC4A11_chr20_3222422_3244190	3228014	CCCTCCTG others(47): Show CCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCT GGGCT	C C	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0103 a0001c0004t0001g0103	1	442	0.0023	-54	c.255 others(71): Show c.2558+191_2559-159delAGCCCAGCCTAGAGGTGGAGAGTGGGCG GGCTGGGGTGGGTGGTGGGCAGGAGG	SLC4A11	ENSG00000088836.14	transcript	ENST00000642402.1	protein_coding	19/19			chr20	TogoVar
SLC4A11_chr20_3222422_3244190	3228032	ACCCCAGC others(47): Show ACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCC AGCCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01099.hp1 others(4): Show HG00099.hp1 HG00323.hp1 HG01099.hp1 HG01496.hp2 HG02015.hp2 HG02074.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0018 a0001c0001 a0001c0003 a0001c0018	a0001c0001t0001 a0001c0003t0001 a0001c0018t0001 a0001c0001t0001 a0001c0003t0001 a0001c0018t0001	a0001c0001t0001g0140 a0001c0003t0001g0029 a0001c0003t0001g0175 others(1): Show a0001c0001t0001g0140 a0001c0003t0001g0029 a0001c0003t0001g0175 a0001c0018t0001g0035	7	399	0.0175	-54	c.255 others(71): Show c.2558+173_2559-177delAGGCTGGCGGGCAGGAGGAGCCCAGCCT AGAGGTGGAGAGTGGGCGGGCTGGGG	SLC4A11	ENSG00000088836.14	transcript	ENST00000642402.1	protein_coding	19/19			chr20	TogoVar
SLC4A2_chr7_151054589_151081523	151078657	CCAGGAGC others(47): Show CCAGGAGCACCATCACGTGGGGAGTCAGTTCCTCTGGCCTTGCCTCTGTG AAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0001 a0003c0018t0001	a0003c0018t0001g0032 a0003c0018t0001g0032	1	404	0.0025	-54	c.22 others(65): Show c.2291_*2344delCAGGAGCACCATCACGTGGGGAGTCAGTTCCTCT GGCCTTGCCTCTGTGAAGAG	SLC4A2	ENSG00000164889.15	transcript	ENST00000413384.7	protein_coding		2135		chr7	TogoVar
SLC6A20_chr3_45750449_45801536	45789559	TCAAAAAA others(47): Show TCAAAAAATATTACATGATTTTGGAAAGGATTAAAATAAGTTAATTTTGA AAAAG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(172): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0014 a0001c0015 a0001c0017 a0002c0002 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0040 a0001c0001t0044 a0001c0001t0045 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0062 a0001c0001t0063 a0001c0003t0002 a0001c0003t0009 a0001c0003t0035 a0001c0003t0066 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0032 a0001c0006t0013 a0001c0007t0001 a0001c0007t0014 a0001c0014t0005 a0001c0015t0067 a0001c0017t0005 a0002c0002t0007 a0002c0002t0019 a0002c0002t0026 a0003c0008t0001 a0003c0008t0004	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 others(153): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0096 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0298 a0001c0001t0001g0307 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0002g0013 a0001c0001t0002g0134 a0001c0001t0002g0149 a0001c0001t0002g0160 a0001c0001t0002g0205 a0001c0001t0002g0321 a0001c0001t0002g0324 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0340 a0001c0001t0002g0344 a0001c0001t0003g0005 a0001c0001t0003g0017 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0142 a0001c0001t0003g0145 a0001c0001t0003g0147 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0173 a0001c0001t0003g0183 a0001c0001t0003g0225 a0001c0001t0003g0333 a0001c0001t0004g0153 a0001c0001t0004g0171 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0274 a0001c0001t0004g0306 a0001c0001t0005g0097 a0001c0001t0005g0179 a0001c0001t0005g0193 a0001c0001t0005g0223 a0001c0001t0005g0300 a0001c0001t0006g0021 a0001c0001t0006g0338 a0001c0001t0006g0339 a0001c0001t0006g0341 a0001c0001t0006g0342 a0001c0001t0008g0157 a0001c0001t0008g0159 a0001c0001t0008g0170 a0001c0001t0008g0172 a0001c0001t0008g0181 a0001c0001t0008g0185 a0001c0001t0011g0155 a0001c0001t0011g0174 a0001c0001t0011g0208 a0001c0001t0011g0317 a0001c0001t0011g0322 a0001c0001t0012g0151 a0001c0001t0016g0132 a0001c0001t0016g0219 a0001c0001t0018g0006 a0001c0001t0018g0301 a0001c0001t0019g0026 a0001c0001t0021g0303 a0001c0001t0021g0318 a0001c0001t0021g0319 a0001c0001t0022g0162 a0001c0001t0022g0182 a0001c0001t0022g0299 a0001c0001t0023g0320 a0001c0001t0023g0323 a0001c0001t0028g0166 a0001c0001t0029g0136 a0001c0001t0029g0178 a0001c0001t0030g0302 a0001c0001t0033g0156 a0001c0001t0033g0351 a0001c0001t0040g0027 a0001c0001t0044g0161 a0001c0001t0045g0177 a0001c0001t0049g0209 a0001c0001t0051g0218 a0001c0001t0052g0189 a0001c0001t0056g0180 a0001c0001t0058g0190 a0001c0001t0059g0140 a0001c0001t0060g0191 a0001c0001t0062g0158 a0001c0001t0063g0167 a0001c0003t0002g0143 a0001c0003t0009g0200 a0001c0003t0009g0229 a0001c0003t0009g0230 a0001c0003t0009g0336 a0001c0003t0035g0137 a0001c0003t0066g0141 a0001c0004t0001g0304 a0001c0004t0001g0310 a0001c0004t0001g0311 a0001c0004t0002g0231 a0001c0004t0002g0309 a0001c0004t0003g0312 a0001c0004t0004g0227 a0001c0004t0004g0228 a0001c0004t0004g0305 a0001c0004t0005g0007 a0001c0004t0005g0128 a0001c0004t0005g0232 a0001c0004t0032g0343 a0001c0006t0013g0114 a0001c0007t0001g0146 a0001c0007t0014g0011 a0001c0007t0014g0175 a0001c0014t0005g0226 a0001c0015t0067g0313 a0001c0017t0005g0091 a0002c0002t0007g0008 a0002c0002t0019g0055 a0002c0002t0026g0029 a0002c0002t0026g0054 a0003c0008t0001g0202 a0003c0008t0004g0138 a0003c0008t0004g0308	175	396	0.4419	-54	c.121 others(71): Show c.121+6686_121+6739delCTTTTTCAAAATTAACTTATTTTAATCC TTTCCAAAATCATGTAATATTTTTTG	SLC6A20	ENSG00000163817.17	transcript	ENST00000358525.9	protein_coding	1/10			chr3	TogoVar
SLIT2_chr4_20246905_20625561	20624716	TATTTTGG others(47): Show TATTTTGGTTTGAAAAAATGCCCATGAATAGCACTCACTTTCCCAATAAA AATGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0209 a0001c0002t0012g0209	1	228	0.0044	-54	c.57 others(65): Show c.5708_*5761delATTTTGGTTTGAAAAAATGCCCATGAATAGCACT CACTTTCCCAATAAAAATGC	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding		4156		chr4	TogoVar
SLX9_chr21_44935029_44981973	44981919	GGGGCCTG others(47): Show GGGGCCTGGACGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCACGGGG GACAG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	332	0.0030	-54	c.51 others(65): Show c.5117_*5170delGGGCCTGGACGGGCCCTGCACACAGAGCCTGCGT GTGGTGTTCACGGGGGACAG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		4947		chr21	TogoVar
SMC2_chr9_104089309_104146419	104139878	ATTTTAAT others(47): Show ATTTTAATGATACATGAATATCATGTTCCTATACGCTTAATAATTGGTCT CTACG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18961.hp1 NA19074.hp2 NA18961.hp1 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0001 a0001c0002t0013g0001	2	276	0.0072	-54	c.61 others(63): Show c.618_*671delTTTTAATGATACATGAATATCATGTTCCTATACGCT TAATAATTGGTCTCTACG	SMC2	ENSG00000136824.19	transcript	ENST00000374793.8	protein_coding	25/25	618	INFO_REALIGN_3_PRIME	chr9	TogoVar
SMC6_chr2_17658812_17758810	17739825	CACACACA others(47): Show CACACACACACACACACACAGACACACACACACACACACACAGAGAATAT GGTAA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19001.hp2 NA19043.hp1 HG03098.hp1 NA19001.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0031 a0001c0001t0004g0040 a0001c0001t0004g0027 a0001c0001t0004g0031 a0001c0001t0004g0040	3	252	0.0119	-54	c.239 others(71): Show c.239-1553_239-1500delTTACCATATTCTCTGTGTGTGTGTGTGT GTGTGTCTGTGTGTGTGTGTGTGTGT	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	4/27			chr2	TogoVar
SMOC2_chr6_168436184_168672992	168592424	ATCTTTCT others(47): Show ATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAG GGGCC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18941.hp2 NA19091.hp1 HG00558.hp2 NA18941.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0156 a0001c0002t0002g0029 a0001c0002t0002g0058 a0001c0001t0001g0156 a0001c0002t0002g0029 a0001c0002t0002g0058	3	177	0.0169	-54	c.638 others(71): Show c.638-6376_638-6323delCGAGCTCCTCCTCCTTCCTGAGGCCTCA CGAGGGGCCTCTTTCTAGAGGATCGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168592967	CCTCCTTC others(47): Show CCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCC TCCTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02970.hp1 HG02109.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0007 a0001c0013t0002 a0001c0002t0007 a0001c0013t0002	a0001c0002t0007g0053 a0001c0013t0002g0033 a0001c0002t0007g0053 a0001c0013t0002g0033	2	177	0.0113	-54	c.638 others(71): Show c.638-5848_638-5795delCCTTCCTGAGGCCTCACGGGCATCTTTC TAGAGGATCTCCGAGCTCCTCCTTCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593318	GCTCCTCC others(47): Show GCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCG AGCTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG01081.hp1 others(19): Show HG00099.hp2 HG00597.hp1 HG01081.hp1 HG01243.hp2 HG01516.hp1 HG01516.hp2 HG02109.hp2 HG02602.hp1 HG02896.hp1 HG03139.hp2 HG03195.hp1 HG03654.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18941.hp1 NA18951.hp2 NA18960.hp2 NA18963.hp1 NA19000.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0016 a0001c0004t0005	a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0131 others(19): Show a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0131 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0004g0122 a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0030 a0001c0002t0002g0039 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0068 a0001c0002t0016g0046 a0001c0004t0005g0048	22	157	0.1401	-54	c.638 others(71): Show c.638-5491_638-5438delCCTTCCTGAGGCCTCACGGGCATCTTTC TAGAGGATCTCCGAGCTCCTCCTCCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar

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