Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SIMC1_chr5_176233424_176350989	176306031	T T	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0350 a0002c0003t0001g0350	1	360	0.0028	50	c.173 others(69): Show c.1735-7660_1735-7659insGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9			chr5	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACACACA others(43): Show TACACACACACACACACACACACACACACACACACACACACACACACACA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	360	0.0028	50	c.47 others(61): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(43): Show TACATACACACACACACACACACACACACACACACACACACACACACACA C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	360	0.0028	50	c.47 others(61): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(43): Show TACATACATACACACACACACACACACACACACACACACACACACACACA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	360	0.0028	50	c.47 others(61): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLC10A6_chr4_86818468_86854384	86837300	A A	AGGAAGGA others(43): Show AGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGAGGAAGGAAGTA G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02056.hp2 HG00609.hp1 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0201 a0001c0001t0001g0106 a0001c0001t0001g0201	2	350	0.0057	50	c.378 others(67): Show c.378-3877_378-3876insCTACTTCCTTCCTCTTCCTCCCTCCCTC CCTCCCTCCCTTCCTTCCTTCC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86837304	A A	AGGAAGGA others(43): Show AGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGAGGAAGGAAGTA G	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG02148.hp1 HG01516.hp2 HG01517.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0079 a0001c0001t0001g0104 a0001c0001t0001g0108	3	350	0.0086	50	c.378 others(67): Show c.378-3881_378-3880insCTACTTCCTTCCTCTTCCTCCCTCCCTC CCTCCCTTCCTTCCTTCCTTCC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86837308	A A	AGGAAGGA others(43): Show AGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGAGGAAGGAAGTA G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01978.hp2 NA18943.hp1 others(3): Show HG00642.hp1 HG01978.hp2 NA18943.hp1 NA18964.hp1 NA19070.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0001g0068 others(3): Show a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0102 a0001c0001t0001g0225	6	350	0.0171	50	c.378 others(67): Show c.378-3885_378-3884insCTACTTCCTTCCTCTTCCTCCCTCCCTC CCTCCCTTCCTTCCTTCCTTCC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC12A7_chr5_1045384_1117063	1063716	G G	GCCACAGC others(43): Show GCCACAGCCCTCCCGATCTCCACTTCCCCCTCCACCCCCACCTCACGAGG C	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18906.hp2 HG01884.hp2 NA18906.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0058 a0001c0014t0003g0059 a0001c0014t0003g0058 a0001c0014t0003g0059	2	118	0.0170	50	c.273 others(66): Show c.2739+78_2739+127dupGCCTCGTGAGGTGGGGGTGGAGGGGGAAG TGGAGATCGGGAGGGCTGTGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071950	C C	CCCCAGTG others(43): Show CCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCA G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0038 a0002c0038	a0002c0038t0014 a0002c0038t0014	a0002c0038t0014g0118 a0002c0038t0014g0118	1	118	0.0085	50	c.224 others(69): Show c.2241+1682_2241+1683insCTGCATAAGTGTGATGCCGTGTGCTG GGGGCTCACTGGGGGCTCACTGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC14A2_chr18_45610476_45688688	45645619	A A	ATATATAC others(43): Show ATATATACATATATATATATATATATATATACATATATATATATATATAT T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02148.hp2 HG02258.hp1 others(10): Show HG01358.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02683.hp2 HG02735.hp2 HG02886.hp1 HG03130.hp2 HG03942.hp1 HG03942.hp2 NA19062.hp1 NA20129.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009	a0001c0023 a0002c0001 a0003c0006 others(5): Show a0001c0023 a0002c0001 a0003c0006 a0004c0003 a0005c0008 a0006c0007 a0008c0011 a0009c0012	a0001c0023t0003 a0002c0001t0002 a0002c0001t0020 others(7): Show a0001c0023t0003 a0002c0001t0002 a0002c0001t0020 a0003c0006t0002 a0004c0003t0005 a0005c0008t0004 a0006c0007t0003 a0006c0007t0004 a0008c0011t0001 a0009c0012t0002	a0001c0023t0003g0018 a0002c0001t0002g0175 a0002c0001t0020g0180 others(10): Show a0001c0023t0003g0018 a0002c0001t0002g0175 a0002c0001t0020g0180 a0003c0006t0002g0190 a0004c0003t0005g0207 a0005c0008t0004g0075 a0006c0007t0003g0025 a0006c0007t0003g0056 a0006c0007t0003g0057 a0006c0007t0003g0167 a0006c0007t0004g0074 a0008c0011t0001g0076 a0009c0012t0002g0140	13	402	0.0323	50	c.135 others(69): Show c.1351+1463_1351+1464insTACATATATATATATATATATATATA CATATATATATATATATATTTATA	SLC14A2	ENSG00000132874.15	transcript	ENST00000255226.11	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr18	TogoVar
SLC14A2_chr18_45610476_45688688	45645619	A A	ATATATAC others(43): Show ATATATACATATATATATATATATATATATATACATATATATATATATAT T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0018 a0003c0005t0018	a0003c0005t0018g0051 a0003c0005t0018g0051	1	402	0.0025	50	c.135 others(69): Show c.1351+1463_1351+1464insTACATATATATATATATATATATATA TACATATATATATATATATTTATA	SLC14A2	ENSG00000132874.15	transcript	ENST00000255226.11	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr18	TogoVar
SLC17A2_chr6_25907754_25935691	25932367	A A	AAAAGAAA others(43): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	1	380	0.0026	50	c.-21 others(61): Show c.-2175_-2174insCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT CTTTCTTTCTTTCTTT	SLC17A2	ENSG00000112337.11	transcript	ENST00000377850.8	protein_coding		1677		chr6	TogoVar
SLC17A2_chr6_25907754_25935691	25932367	A A	AAAAGAAA others(43): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0048 a0001c0002t0002g0048	2	380	0.0053	50	c.-21 others(61): Show c.-2175_-2174insCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	SLC17A2	ENSG00000112337.11	transcript	ENST00000377850.8	protein_coding		1677		chr6	TogoVar
SLC17A5_chr6_73588379_73658992	73601441	G G	GCCCTGTC others(43): Show GCCCTGTCCGGGAGGGAGGTGGGGGGGGTCAGCACCCCGCCTGGCCAGCC A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	324	0.0031	50	c.126 others(69): Show c.1260-1001_1260-1000insTGGCTGGCCAGGCGGGGTGCTGACCC CCCCCACCTCCCTCCCGGACAGGG	SLC17A5	ENSG00000119899.13	transcript	ENST00000355773.6	protein_coding	9/10			chr6	TogoVar
SLC17A5_chr6_73588379_73658992	73654879	A A	AGTCCCCC others(43): Show AGTCCCCCCCCCCCACCCCCCCCCCCCCCCGGTCCCCCCCCCCCCCCCCC C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	324	0.0031	50	c.-99 others(59): Show c.-994_-993insGGGGGGGGGGGGGGGGGGACCGGGGGGGGGGGGGGG TGGGGGGGGGGGAC	SLC17A5	ENSG00000119899.13	transcript	ENST00000355773.6	protein_coding		888		chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792356	G G	GAAAGAAG others(43): Show GAAAGAAGGAAAGAAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAG A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0012 a0002c0004t0005g0012	1	304	0.0033	50	c.184 others(67): Show c.184-2085_184-2084insTCTTTCTTTCTCTTTCTTTCTCTTTCTT TCTTTCTTTTCTTTCCTTCTTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC20A2_chr8_42411475_42506231	42505109	C C	CTGGCATA others(43): Show CTGGCATAGTAACTGAACATGCCTTTTTTTTTTTTTTTTTTTTTTTTTTT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0191 a0002c0002t0001g0191	1	238	0.0042	50	c.-43 others(61): Show c.-4344_-4343insAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCATG TTCAGTTACTATGCCA	SLC20A2	ENSG00000168575.10	transcript	ENST00000520262.6	protein_coding		3879		chr8	TogoVar
SLC22A24_chr11_63074940_63149221	63092529	C C	CATGGTAC others(43): Show CATGGTACTGATATATATATATATATATGGAACAGAACAGAGACCTCAGA A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0136	1	366	0.0027	50	c.107 others(69): Show c.1070+3461_1070+3462insTTCTGAGGTCTCTGTTCTGTTCCATA TATATATATATATATCAGTACCAT	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	6/9			chr11	TogoVar
SLC22A25_chr11_63153437_63248599	63177839	G G	GTATATAT others(43): Show GTATATATATAATGTATATATATAATATATATATATAATGTATATATATA A	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	344	0.0029	50	c.107 others(69): Show c.1070+2820_1070+2821insTTATATATATACATTATATATATATA TTATATATATACATTATATATATA	SLC22A25	ENSG00000196600.13	transcript	ENST00000306494.11	protein_coding	9/11			chr11	TogoVar
SLC23A3_chr2_219156465_219175029	219159540	T T	TATATATA others(43): Show TATATATATGCATATATATATATGCATATATATATATGCATATATATATG C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03239.hp1 HG03688.hp2 others(4): Show HG03017.hp2 HG03239.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG04115.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	7	434	0.0161	50	c.23 others(61): Show c.2368_*2369insGCATATATATATGCATATATATATATGCATATAT ATATATGCATATATAT	SLC23A3	ENSG00000213901.11	transcript	ENST00000409878.8	protein_coding		1924		chr2	TogoVar
SLC23A3_chr2_219156465_219175029	219159552	C C	CATATATA others(43): Show CATATATATGCATATATATATATGCATATATATATGCATATATATATGCA T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	434	0.0023	50	c.23 others(61): Show c.2356_*2357insATGCATATATATATGCATATATATATGCATATAT ATATATGCATATATAT	SLC23A3	ENSG00000213901.11	transcript	ENST00000409878.8	protein_coding		1912		chr2	TogoVar
SLC25A13_chr7_96115220_96327098	96134793	T T	TTATATAT others(43): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	276	0.0036	50	c.145 others(69): Show c.1453-2913_1453-2912insTATATATATATATATATATATATATA TATATATATATATATATATATATA	SLC25A13	ENSG00000004864.14	transcript	ENST00000265631.10	protein_coding	14/17			chr7	TogoVar
SLC25A13_chr7_96115220_96327098	96147054	T T	TCGTATCC others(43): Show TCGTATCCAAATGAGGAGACACAGAACGTATCCAAATGAGGAGACACAGA A	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	276	0.0036	50	c.131 others(67): Show c.1312-408_1312-359dupTTCTGTGTCTCCTCATTTGGATACGTTC TGTGTCTCCTCATTTGGATACG	SLC25A13	ENSG00000004864.14	transcript	ENST00000265631.10	protein_coding	13/17			chr7	TogoVar
SLC25A36_chr3_140936836_140985995	140983578	T T	TATATATA others(43): Show TATATATATATATATATATATATATGTATATATATATATATATATATACA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG02300.hp1 HG01928.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0038 a0001c0001t0005g0035 a0001c0001t0005g0038	2	270	0.0074	50	c.71 others(61): Show c.7125_*7126insATATATATATATATATATATATATGTATATATAT ATATATATATATACAC	SLC25A36	ENSG00000114120.14	transcript	ENST00000324194.12	protein_coding		2584		chr3	TogoVar
SLC27A2_chr15_50177196_50241385	50238334	A A	ACATTGTG others(43): Show ACATTGTGCAATTGTGTTACCTGGAATCTTGTCAAAGGAGAAGGTTGTCA G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0261 a0002c0012t0002g0261	1	362	0.0028	50	c.22 others(61): Show c.2238_*2239insCATTGTGCAATTGTGTTACCTGGAATCTTGTCAA AGGAGAAGGTTGTCAG	SLC27A2	ENSG00000140284.11	transcript	ENST00000267842.10	protein_coding		1950		chr15	TogoVar
SLC2A8_chr9_127392169_127412898	127409299	T T	TGGGGAGG others(43): Show TGGGGAGGTGGGGGAGATGATGGGGAGGTGGAGGAAGATGATGGGGAGGT G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	418	0.0024	50	c.20 others(61): Show c.2050_*2051insGGGGAGGTGGGGGAGATGATGGGGAGGTGGAGGA AGATGATGGGGAGGTG	SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding		1402		chr9	TogoVar
SLC2A9_chr4_9821224_10026497	9931913	A A	ACTCTCTC others(43): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCAA T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0205 a0002c0006t0001g0205	1	336	0.0030	50	c.814 others(68): Show c.814+9999_814+10000insATTGAGAGAGAGAGAGATTGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAG	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	6/11			chr4	TogoVar
SLC2A9_chr4_9821224_10026497	9931916	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCA A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03098.hp1 HG02976.hp1 HG03098.hp1	a0002 a0002	a0002c0006 a0002c0008 a0002c0006 a0002c0008	a0002c0006t0001 a0002c0008t0001 a0002c0006t0001 a0002c0008t0001	a0002c0006t0001g0336 a0002c0008t0001g0222 a0002c0006t0001g0336 a0002c0008t0001g0222	2	336	0.0060	50	c.814 others(67): Show c.814+9996_814+9997insTTGAGAGAGAGAGAGATTGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGA	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	6/11			chr4	TogoVar
SLC2A9_chr4_9821224_10026497	9931957	T T	TATATATA others(43): Show TATATATATATATATATATATACATATATATATATATATATATATATATA C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	336	0.0030	50	c.814 others(67): Show c.814+9955_814+9956insGTATATATATATATATATATATATATAT GTATATATATATATATATATAT	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	6/11			chr4	TogoVar
SLC2A9_chr4_9821224_10026497	9931962	C C	CAATCTCT others(43): Show CAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATAT A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0225 a0002c0008t0001g0225	1	336	0.0030	50	c.814 others(67): Show c.814+9950_814+9951insTATATATATAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGATT	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	6/11			chr4	TogoVar
SLC2A9_chr4_9821224_10026497	9931962	C C	CAATCTCT others(43): Show CAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTAT A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0227 a0002c0008t0001g0227	1	336	0.0030	50	c.814 others(67): Show c.814+9950_814+9951insTATAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGATT	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	6/11			chr4	TogoVar
SLC30A5_chr5_69089014_69136069	69118311	G G	GTGTGTAT others(43): Show GTGTGTATATATATATATATATATATATGTGTATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA19004.hp1 NA19012.hp2 NA18994.hp2 NA19004.hp1 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0232 a0001c0002t0001g0234 a0001c0002t0001g0236 a0001c0002t0001g0232 a0001c0002t0001g0234 a0001c0002t0001g0236	3	408	0.0074	50	c.144 others(67): Show c.1440-187_1440-186insGTGTATATATATATATATATATATATGT GTATATATATATATATATATAT	SLC30A5	ENSG00000145740.20	transcript	ENST00000396591.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC30A7_chr1_100891090_100986757	100964259	A A	AATATAGG others(43): Show AATATAGGTTATATAACCTATAACCTATATAGGTTATATAACCTATAACC T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0144 a0001c0001t0043g0144	1	222	0.0045	50	c.934 others(67): Show c.934-1505_934-1504insGGTTATATAACCTATAACCTATATAGGT TATATAACCTATAACCTATATA	SLC30A7	ENSG00000162695.12	transcript	ENST00000357650.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC30A7_chr1_100891090_100986757	100964265	T T	TGTTATAT others(43): Show TGTTATATAACCTATAACCTATATAGGTTATATAACCTATAACCTATATA G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG01099.hp2 others(24): Show HG00099.hp2 HG00408.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG02132.hp1 HG02615.hp2 HG02683.hp1 HG03239.hp1 HG03704.hp1 HG03834.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18948.hp2 NA18955.hp2 NA18969.hp1 NA18970.hp1 NA18985.hp1 NA18988.hp2 NA18994.hp1 NA19043.hp1 NA19058.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0038 others(1): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0038 a0001c0001t0040	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 others(22): Show a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0112 a0001c0001t0002g0120 a0001c0001t0002g0147 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0016g0007 a0001c0001t0016g0174 a0001c0001t0038g0148 a0001c0001t0040g0149	27	222	0.1216	50	c.934 others(67): Show c.934-1487_934-1486insCTATATAGGTTATATAACCTATAACCTA TATAGGTTATATAACCTATAAC	SLC30A7	ENSG00000162695.12	transcript	ENST00000357650.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC35D1_chr1_66994350_67059148	67013157	G G	GATATATA others(43): Show GATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0132 a0001c0001t0004g0132	1	310	0.0032	50	c.877 others(67): Show c.877-3991_877-3990insATATATATATATATATATATATATATAT ATATATATATATATATATATAT	SLC35D1	ENSG00000116704.8	transcript	ENST00000235345.6	protein_coding	10/11			chr1	TogoVar
SLC35F1_chr6_117902264_118322671	117923648	T T	TATATACA others(43): Show TATATACATATACATATGTACATATACACATATACATATGTACATATGTA C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG04204.hp2 HG01081.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0035 a0001c0001t0002 a0001c0001t0035	a0001c0001t0002g0141 a0001c0001t0035g0146 a0001c0001t0002g0141 a0001c0001t0035g0146	2	182	0.0110	50	c.173 others(69): Show c.173+15751_173+15752insATACATATACATATGTACATATACAC ATATACATATGTACATATGTACAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F3_chr1_233899676_234329511	234108184	A A	ATATATAT others(43): Show ATATATATATAAAAGATATATATATTTATATATATAAAAGATATATATAT T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02922.hp1 HG03453.hp2 HG02622.hp1 HG02922.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0001t0001 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0032 a0001c0002t0002g0152 a0001c0004t0001g0051 a0001c0001t0001g0032 a0001c0002t0002g0152 a0001c0004t0001g0051	3	158	0.0190	50	c.284 others(71): Show c.284-123185_284-123136dupATTTATATATATAAAAGATATATA TATTTATATATATAAAAGATATATAT	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC35F3_chr1_233899676_234329511	234108433	G G	GATATATA others(43): Show GATATATATTATTTATATATAAAAGATATATATAAATGATATATATTATT T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0112 a0001c0001t0013g0112	1	158	0.0063	50	c.284 others(71): Show c.284-122976_284-122975insTATTTATATATAAAAGATATATAT AAATGATATATATTATTTATATATAT	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC36A1_chr5_151442603_151497379	151458356	T T	TACATACA others(43): Show TACATACACTTGTATATATATATATATATATATATATATATATATACACA C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0130 a0001c0001t0009g0130	1	404	0.0025	50	c.-5- others(63): Show c.-5-429_-5-428insTACACTTGTATATATATATATATATATATATA TATATATATACACACACA	SLC36A1	ENSG00000123643.14	transcript	ENST00000243389.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC38A6_chr14_60976245_61057630	61052744	C C	CAGTTTCC others(43): Show CAGTTTCCCCTATTAACTCTACGTACAGAGTGCTACAATTCGTTACCAAT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0003 a0008c0011t0003	a0008c0011t0003g0202 a0008c0011t0003g0202	1	320	0.0031	50	c.31 others(59): Show c.315_*316insAGTTTCCCCTATTAACTCTACGTACAGAGTGCTACA ATTCGTTACCAATA	SLC38A6	ENSG00000139974.17	transcript	ENST00000267488.9	protein_coding		115		chr14	TogoVar
SLC38A9_chr5_55620848_55717324	55696001	G G	GGGGCGGC others(43): Show GGGGCGGCTGGCCGGGCGGGGAGCTGACCCCCCCCACCTCCCTCCCGGAC T	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18977.hp2 HG02738.hp1 NA18977.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0226 a0002c0002t0001g0262 a0002c0002t0001g0226 a0002c0002t0001g0262	2	350	0.0057	50	c.113 others(67): Show c.113+1844_113+1845insAGTCCGGGAGGGAGGTGGGGGGGGTCAG CTCCCCGCCCGGCCAGCCGCCC	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC38A9_chr5_55620848_55717324	55696274	C C	CGGGGCGG others(43): Show CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCTCACCTCCCTCCCGGAC G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03453.hp2 HG03486.hp2 HG02280.hp2 HG03453.hp2 HG03486.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0007 a0002c0005t0002g0008 a0002c0005t0002g0009 a0002c0005t0002g0007 a0002c0005t0002g0008 a0002c0005t0002g0009	3	350	0.0086	50	c.113 others(67): Show c.113+1571_113+1572insCGTCCGGGAGGGAGGTGAGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCC	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC38A9_chr5_55620848_55717324	55696276	G G	GGGCGGCT others(43): Show GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGG A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0004 a0002c0003t0004g0004	1	350	0.0029	50	c.113 others(67): Show c.113+1569_113+1570insTCCGTCTGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCC	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC39A11_chr17_72640949_73097688	73004232	A A	AAAGAAAG others(43): Show AAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAAGAAA G	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0111 a0001c0005t0001g0111	1	180	0.0056	50	c.306 others(69): Show c.306+27323_306+27324insCTTTCTTTTCTTTCTTTCTTTCTTTC TTTCCTTTCTTTCTTTCCTTTCTT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	4/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	73004232	A A	AAAGGAAA others(43): Show AAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18979.hp1 HG02280.hp1 NA18979.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0002g0023 a0003c0003t0001g0140 a0001c0001t0002g0023 a0003c0003t0001g0140	2	180	0.0111	50	c.306 others(69): Show c.306+27323_306+27324insCTTTCTTTCTTTTCTTTCTTTCTTTC TTTCTTTCCTTTCTTTCTTTCCTT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	4/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	73026187	G G	GAGAGAAG others(43): Show GAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01433.hp1 HG02083.hp1 others(3): Show HG01074.hp1 HG01433.hp1 HG02083.hp1 NA18971.hp2 NA19012.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0006t0001	a0001c0001t0001g0049 a0001c0001t0001g0096 a0001c0001t0001g0139 others(3): Show a0001c0001t0001g0049 a0001c0001t0001g0096 a0001c0001t0001g0139 a0001c0001t0008g0163 a0001c0001t0010g0162 a0001c0006t0001g0106	6	180	0.0333	50	c.306 others(67): Show c.306+5368_306+5369insTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCTTCTCTTCTCTTCTCT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	4/9			chr17	TogoVar
SLC39A6_chr18_36103531_36134340	36106261	C C	CTTTTTTT others(43): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	410	0.0024	50	c.33 others(61): Show c.3331_*3332insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	SLC39A6	ENSG00000141424.13	transcript	ENST00000269187.10	protein_coding		2269		chr18	TogoVar
SLC41A3_chr3_126001357_126089124	126059263	G G	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAGAGAGAGAAAGAAGAAAGAAAGAAAGAAAGAAAG A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0113 a0001c0002t0002g0113	1	370	0.0027	50	c.274 others(67): Show c.274-8214_274-8213insTCTTTCTTTCTTTCTTTCTTTCTTCTTT CTCTCTCTTTCTTTCTTTCTTT	SLC41A3	ENSG00000114544.17	transcript	ENST00000360370.9	protein_coding	2/10			chr3	TogoVar
SLC43A3_chr11_57401954_57432121	57403532	G G	GAAGAAGA others(43): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	330	0.0030	50	c.42 others(61): Show c.4259_*4260insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTT	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3421		chr11	TogoVar
SLC45A4_chr8_141202174_141313288	141203235	G G	GGGAGAGG others(43): Show GGGAGAGGGAGAGGGAGACCGTGGAGAGAGGGAGAGGGAGAGGGAGACCG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0057 a0001c0003t0001g0057	1	188	0.0053	50	c.83 others(61): Show c.8336_*8337insACGGTCTCCCTCTCCCTCTCCCTCTCTCCACGGT CTCCCTCTCCCTCTCC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3938		chr8	TogoVar