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
SLC9A9_chr3_143260222_143853468	143449697	T T	TAATTATA others(23): Show TAATTATATAATTATATAAAATATAATTATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0062 a0001c0001t0010g0062	1	12	0.0833	30	c.146 others(51): Show c.1469+17339_1469+17340insTATAATTATATTTTATATAATTAT ATAATT	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SLC9C1_chr3_112135898_112299216	112271393	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03579.hp2 NA18939.hp2 others(4): Show HG02523.hp1 HG03579.hp2 NA18939.hp2 NA18981.hp1 NA19003.hp2 NA19009.hp2 NA19065.hp1	a0001 a0017 a0001 a0017	a0001c0002 a0017c0022 a0001c0002 a0017c0022	a0001c0002t0001 a0001c0002t0009 a0017c0022t0001 a0001c0002t0001 a0001c0002t0009 a0017c0022t0001	a0001c0002t0001g0043 a0001c0002t0001g0069 a0001c0002t0001g0073 others(4): Show a0001c0002t0001g0043 a0001c0002t0001g0069 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0087 a0001c0002t0009g0142 a0017c0022t0001g0094	7	153	0.0458	30	c.614 others(47): Show c.614-1317_614-1316insTATATATATATATATATATATATATATA TA	SLC9C1	ENSG00000172139.15	transcript	ENST00000305815.10	protein_coding	6/28			chr3	TogoVar
SLC9C2_chr1_173495460_173608072	173550872	A A	AAGAGAGA others(23): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0024 a0003c0003t0002g0024	1	78	0.0128	30	c.129 others(49): Show c.1298-2350_1298-2321dupCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	SLC9C2	ENSG00000162753.13	transcript	ENST00000367714.4	protein_coding	11/27			chr1	TogoVar
SLCO1B3_chr12_20805705_20921911	20918434	G G	GTATGTGT others(23): Show GTATGTGTGTGTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(66): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01978.hp1 HG02027.hp1 HG02056.hp2 HG02129.hp1 HG02155.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02630.hp1 HG02735.hp1 HG02970.hp1 HG03041.hp2 HG03139.hp1 HG03490.hp1 HG03688.hp1 HG03834.hp2 NA18942.hp1 NA18947.hp1 NA18951.hp2 NA18954.hp1 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18970.hp2 NA18982.hp2 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA19002.hp1 NA19003.hp1 NA19012.hp1 NA19054.hp1 NA19056.hp2 NA19062.hp2 NA19070.hp1 NA19080.hp2 NA19083.hp1 NA19088.hp2 NA19091.hp2 NA20905.hp2	a0001 a0002 a0012 others(1): Show a0001 a0002 a0012 a0013	a0001c0001 a0001c0004 a0002c0003 others(2): Show a0001c0001 a0001c0004 a0002c0003 a0012c0016 a0013c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0004t0005 a0002c0003t0001 a0012c0016t0001 a0013c0014t0001	a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0031 others(64): Show a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0087 a0001c0001t0001g0113 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0002g0175 a0001c0001t0003g0244 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0001t0005g0005 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0233 a0001c0001t0005g0251 a0001c0001t0005g0268 a0001c0001t0005g0272 a0001c0001t0005g0273 a0001c0001t0005g0275 a0001c0001t0007g0045 a0001c0001t0007g0046 a0001c0001t0007g0049 a0001c0001t0007g0126 a0001c0001t0011g0248 a0001c0004t0005g0247 a0002c0003t0001g0042 a0002c0003t0001g0043 a0002c0003t0001g0069 a0012c0016t0001g0223 a0013c0014t0001g0019	69	138	0.5000	30	c.21 others(41): Show c.2187_*2188insTATGTGTGTGTATATATATATATATATATA	SLCO1B3	ENSG00000111700.13	transcript	ENST00000381545.8	protein_coding		1524		chr12	TogoVar
SLCO1B3_chr12_20805705_20921911	20918434	G G	GTATGTGT others(23): Show GTATGTGTGTGTGTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03669.hp2 HG03490.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0201 a0001c0001t0001g0057 a0001c0001t0001g0201	2	71	0.0282	30	c.21 others(41): Show c.2187_*2188insTATGTGTGTGTGTATATATATATATATATA	SLCO1B3	ENSG00000111700.13	transcript	ENST00000381545.8	protein_coding		1524		chr12	TogoVar
SLCO1B3_chr12_20805705_20921911	20918436	G G	GTGTGTGT others(23): Show GTGTGTGTGTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	69	0.0145	30	c.21 others(41): Show c.2189_*2190insTGTGTGTGTATATATATATATATATATATA	SLCO1B3	ENSG00000111700.13	transcript	ENST00000381545.8	protein_coding		1526		chr12	TogoVar
SLCO3A1_chr15_91848708_92170903	91926596	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0030 a0001c0001t0046g0030	1	65	0.0154	30	c.646 others(49): Show c.646+10139_646+10140insTGTGTGTGTGTGTGTGCGCGCGCGCG CGCG	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	91926596	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	65	0.0154	30	c.646 others(49): Show c.646+10139_646+10140insTGTGTGTGTGTGTGTGTGTGTGCGCG CGCG	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	91971394	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02615.hp2 HG01496.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0045 a0001c0002t0002 a0001c0004t0045	a0001c0002t0002g0147 a0001c0004t0045g0034 a0001c0002t0002g0147 a0001c0004t0045g0034	2	42	0.0476	30	c.646 others(49): Show c.646+54952_646+54953insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92016254	T T	TAGATAGA others(23): Show TAGATAGATAGATTAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0079 a0001c0002t0002g0079	1	96	0.0104	30	c.647 others(49): Show c.647-78627_647-78626insAGATAGATAGATTAGATAGATAGATA GATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92016254	T T	TAGATAGA others(23): Show TAGATAGATTAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01256.hp1 HG02258.hp1 others(9): Show HG01070.hp2 HG01256.hp1 HG02258.hp1 HG02258.hp2 HG02602.hp2 HG03239.hp1 HG04184.hp2 HG04199.hp2 NA18941.hp2 NA18980.hp2 NA19007.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0017 a0001c0001t0018 a0001c0002t0001 a0001c0004t0004 a0001c0009t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0032	a0001c0001t0002g0151 a0001c0001t0003g0123 a0001c0001t0005g0152 others(9): Show a0001c0001t0002g0151 a0001c0001t0003g0123 a0001c0001t0005g0152 a0001c0001t0007g0005 a0001c0001t0017g0066 a0001c0001t0018g0077 a0001c0002t0001g0092 a0001c0004t0004g0095 a0001c0009t0001g0059 a0002c0003t0001g0128 a0002c0003t0002g0100 a0002c0003t0032g0076	12	107	0.1122	30	c.647 others(49): Show c.647-78627_647-78626insAGATAGATTAGATAGATAGATAGATA GATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92016254	T T	TAGATTAG others(23): Show TAGATTAGATAGATAGATAGATAGATATAGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0162 a0001c0001t0059g0162	1	96	0.0104	30	c.647 others(49): Show c.647-78627_647-78626insAGATTAGATAGATAGATAGATAGATA TAGA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92016254	T T	TAGATTGA others(23): Show TAGATTGATTAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0048 a0001c0001t0005g0048	1	96	0.0104	30	c.647 others(49): Show c.647-78627_647-78626insAGATTGATTAGATAGATAGATAGATA GATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SLCO4A1_chr20_62637503_62677293	62666114	C C	CGCCCCCC others(23): Show CGCCCCCCCGCCCCCCCGCCCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02976.hp2 HG02818.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0042 a0001c0001t0026g0042 a0001c0001t0001g0042 a0001c0001t0026g0042	2	422	0.0047	30	c.127 others(47): Show c.1277-266_1277-265insGCCCCCCCGCCCCCCCGCCCCCCTTCCC CT	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11			chr20	TogoVar
SLCO5A1_chr8_69662046_69839978	69765401	T T	TATATATA others(23): Show TATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02559.hp2 others(1): Show HG01884.hp2 HG02145.hp1 HG02559.hp2 HG03139.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0011 a0002c0002 a0004c0011	a0002c0002t0016 a0002c0002t0050 a0004c0011t0004 a0002c0002t0016 a0002c0002t0050 a0004c0011t0004	a0002c0002t0016g0223 a0002c0002t0050g0177 a0004c0011t0004g0083 others(1): Show a0002c0002t0016g0223 a0002c0002t0050g0177 a0004c0011t0004g0083 a0004c0011t0004g0085	4	274	0.0146	30	c.908 others(47): Show c.908-3527_908-3526insGTGTGTGTGTGTGTATATATATATATAT AT	SLCO5A1	ENSG00000137571.11	transcript	ENST00000260126.9	protein_coding	2/9			chr8	TogoVar
SLCO5A1_chr8_69662046_69839978	69772563	A A	AGAAAGGA others(23): Show AGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0095 a0002c0012t0095	a0002c0012t0095g0268 a0002c0012t0095g0268	1	69	0.0145	30	c.908 others(49): Show c.908-10718_908-10689dupCTTTCCTTTCCTTTCCTTTCCTTTCC TTTC	SLCO5A1	ENSG00000137571.11	transcript	ENST00000260126.9	protein_coding	2/9			chr8	TogoVar
SLCO6A1_chr5_102366774_102504001	102383094	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG01884.hp1 HG02257.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0019 a0004c0005t0001g0009 a0001c0001t0001g0019 a0004c0005t0001g0009	2	115	0.0174	30	c.201 others(49): Show c.2017+5593_2017+5594insTATATATATATATATATATATATATA CACA	SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding	12/13			chr5	TogoVar
SLCO6A1_chr5_102366774_102504001	102383094	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	114	0.0088	30	c.201 others(49): Show c.2017+5593_2017+5594insTATATATATATATATATATACACACA CACA	SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding	12/13			chr5	TogoVar
SLFN14_chr17_35538985_35565819	35561745	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0011 a0002c0012t0011	a0002c0012t0011g0009 a0002c0012t0011g0009	1	197	0.0051	30	c.-11 others(41): Show c.-1103_-1102insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		927		chr17	TogoVar
SLIT1_chr10_96993038_97190959	97166569	G G	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0148	1	95	0.0105	30	c.198 others(47): Show c.198-1680_198-1679insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	SLIT1	ENSG00000187122.17	transcript	ENST00000266058.9	protein_coding	1/36			chr10	TogoVar
SLIT1_chr10_96993038_97190959	97166569	G G	GAGAGAGA others(23): Show GAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	95	0.0105	30	c.198 others(47): Show c.198-1680_198-1679insTTCTTTCTTTCTTTCTTTCTTTCTCTCT CT	SLIT1	ENSG00000187122.17	transcript	ENST00000266058.9	protein_coding	1/36			chr10	TogoVar
SLIT2_chr4_20246905_20625561	20417436	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0156 a0001c0002t0029g0156	1	140	0.0071	30	c.396 others(49): Show c.396-50294_396-50293insTATATATATATATATATATATATATA TATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20423405	C C	CTATAATT others(23): Show CTATAATTTATAATTTCAGGAAATTATAAAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02976.hp2 NA19060.hp2 others(1): Show HG02818.hp1 HG02976.hp2 NA19060.hp2 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0008 a0001c0011 others(1): Show a0001c0001 a0001c0008 a0001c0011 a0005c0017	a0001c0001t0021 a0001c0008t0032 a0001c0011t0080 others(1): Show a0001c0001t0021 a0001c0008t0032 a0001c0011t0080 a0005c0017t0001	a0001c0001t0021g0034 a0001c0008t0032g0021 a0001c0011t0080g0093 others(1): Show a0001c0001t0021g0034 a0001c0008t0032g0021 a0001c0011t0080g0093 a0005c0017t0001g0040	4	228	0.0175	30	c.396 others(49): Show c.396-44331_396-44302dupCAGGAAATTATAAATTATAATTTATA ATTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT3_chr5_168656740_169306139	168884549	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0015 a0015	a0015c0028 a0015c0028	a0015c0028t0006 a0015c0028t0006	a0015c0028t0006g0014 a0015c0028t0006g0014	1	5	0.2000	30	c.414 others(47): Show c.414-1243_414-1214dupATATATATATATATATATATATATATAT AT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168897646	G G	GCGCGCAC others(23): Show GCGCGCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0006 a0001c0015t0006	a0001c0015t0006g0070 a0001c0015t0006g0070	1	42	0.0238	30	c.414 others(49): Show c.414-14311_414-14310insTGTGTGTGTGTGTGTGTGTGTGTGTG CGCG	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168897646	G G	GCGCGCGC others(23): Show GCGCGCGCGCGCGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02129.hp1 NA19007.hp2 others(1): Show HG00735.hp1 HG02129.hp1 NA19007.hp2 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0001c0037 a0001c0058 others(1): Show a0001c0009 a0001c0037 a0001c0058 a0002c0008	a0001c0009t0003 a0001c0037t0001 a0001c0058t0009 others(1): Show a0001c0009t0003 a0001c0037t0001 a0001c0058t0009 a0002c0008t0002	a0001c0009t0003g0117 a0001c0037t0001g0021 a0001c0058t0009g0097 others(1): Show a0001c0009t0003g0117 a0001c0037t0001g0021 a0001c0058t0009g0097 a0002c0008t0002g0042	4	45	0.0889	30	c.414 others(49): Show c.414-14311_414-14310insTGTGTGTGTGTGTGTGCGCGCGCGCG CGCG	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168897646	G G	GCGTGCAC others(23): Show GCGTGCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01496.hp1 HG01081.hp1 HG01496.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0061 a0001c0010 a0002c0061	a0001c0010t0008 a0002c0061t0011 a0001c0010t0008 a0002c0061t0011	a0001c0010t0008g0071 a0002c0061t0011g0051 a0001c0010t0008g0071 a0002c0061t0011g0051	2	43	0.0465	30	c.414 others(49): Show c.414-14311_414-14310insTGTGTGTGTGTGTGTGTGTGTGTGTG CACG	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168907979	T T	TATAGAGA others(23): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0006 a0001c0015t0006	a0001c0015t0006g0070 a0001c0015t0006g0070	1	34	0.0294	30	c.414 others(49): Show c.414-24644_414-24643insCTCTCTCTCTCTCTCTCTCTCTCTCT CTAT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168907979	T T	TATATATA others(23): Show TATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	34	0.0294	30	c.414 others(49): Show c.414-24644_414-24643insCTCTCTCTCTCTCTCTATATATATAT ATAT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168972337	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0020 a0001c0050t0020	a0001c0050t0020g0003 a0001c0050t0020g0003	1	4	0.2500	30	c.414 others(49): Show c.414-89031_414-89002dupCACACACACACACACACACACACACA CACA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	169002322	C C	CAAAAAAA others(23): Show CAAAAAAATAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0102 a0001c0004t0018g0102	1	42	0.0238	30	c.414 others(51): Show c.414-118987_414-118986insTTTTTTTTTTTTTTTTTTTTTTAT TTTTTT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLITRK3_chr3_165181720_165201384	165196897	G G	GTCTCTCT others(23): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 NA18944.hp2 HG03491.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0014 a0001c0001t0002 a0001c0003t0014	a0001c0001t0002g0001 a0001c0003t0014g0034 a0001c0001t0002g0001 a0001c0003t0014g0034	2	54	0.0370	30	c.-13 others(41): Show c.-1369_-1340dupGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	SLITRK3	ENSG00000121871.4	transcript	ENST00000475390.2	protein_coding		514		chr3	TogoVar
SLMAP_chr3_57751309_57935003	57869630	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	63	0.0159	30	c.123 others(49): Show c.1238-2005_1238-1976dupTATATATATATATATATATATATATA TATA	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(23): Show CTTTTTTTTCTTTTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0180 a0001c0001t0011g0180	1	241	0.0041	30	c.150 others(49): Show c.1502-1576_1502-1575insCTTTTCTTTTTTTTTTTTTTTTTTTT TTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(23): Show CTTTTTTTTCTTTTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	241	0.0041	30	c.150 others(49): Show c.1502-1576_1502-1575insCTTTTTCTTTTTTTTTTTTTTTTTTT TTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906310	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03669.hp2 HG06807.hp1 HG00408.hp1 HG03669.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0198 a0001c0002t0001g0255 a0001c0002t0001g0268 a0001c0002t0001g0198 a0001c0002t0001g0255 a0001c0002t0001g0268	3	122	0.0246	30	c.150 others(49): Show c.1502-1552_1502-1551insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLN_chr11_107702378_107717056	107703787	T T	TGGGTGGG others(23): Show TGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	408	0.0025	30	c.40 others(41): Show c.4047_*4048insCCCCCCCCCCCCCCCCCCCCCCCCCCACCC	SLN	ENSG00000170290.4	transcript	ENST00000305991.3	protein_coding		3590		chr11	TogoVar
SLPI_chr20_45247239_45259564	45258267	T T	TATAGATA others(23): Show TATAGATAGATAGATATAGATAGATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01167.hp2 HG01243.hp1 others(4): Show HG01106.hp2 HG01167.hp2 HG01243.hp1 HG01243.hp2 HG02647.hp1 HG03486.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	7	381	0.0184	30	c.-37 others(41): Show c.-3725_-3724insCTATCTATCTATCTATATCTATCTATCTAT	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3704		chr20	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01433.hp2 HG02071.hp2 others(4): Show HG01261.hp2 HG01433.hp2 HG02071.hp2 HG02559.hp2 HG02886.hp1 NA19002.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0287 a0001c0001t0002g0299 a0001c0001t0002g0346 others(4): Show a0001c0001t0002g0287 a0001c0001t0002g0299 a0001c0001t0002g0346 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0189 a0001c0002t0001g0190	7	37	0.1892	30	c.299 others(49): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLURP1_chr8_142735949_142747406	142743971	T T	TGGATGGA others(23): Show TGGATGGATGGGTGGATGGATGGGTGGATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	30	c.-15 others(41): Show c.-1587_-1586insCCATCCACCCATCCATCCACCCATCCATCC	SLURP1	ENSG00000126233.2	transcript	ENST00000246515.2	protein_coding		1566		chr8	TogoVar
SLX4IP_chr20_10430305_10633030	10452680	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0206 a0001c0001t0052g0206	1	38	0.0263	30	c.-29 others(47): Show c.-29-5495_-29-5494insAATATATATATATATATATATATATATA TA	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMAD1_chr4_145476853_145564176	145477915	G G	GTATATAT others(23): Show GTATATATACACATGTACATATGTATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	306	0.0033	30	c.-43 others(41): Show c.-4300_-4299insTATATATACACATGTACATATGTATATACA	SMAD1	ENSG00000170365.10	transcript	ENST00000302085.9	protein_coding		3937		chr4	TogoVar
SMAD1_chr4_145476853_145564176	145477926	T T	TATGTACA others(23): Show TATGTACATGTGTATATACATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0023 a0001c0001t0009g0023	1	273	0.0037	30	c.-42 others(41): Show c.-4289_-4288insATGTACATGTGTATATACATATATATACAC	SMAD1	ENSG00000170365.10	transcript	ENST00000302085.9	protein_coding		3926		chr4	TogoVar
SMAD2_chr18_47803957_47935659	47850506	A A	ATATATAA others(23): Show ATATATAACATATATTATGTATAATATATGT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0128 a0001c0001t0128	a0001c0001t0128g0235 a0001c0001t0128g0235	1	301	0.0033	30	c.784 others(45): Show c.784+767_784+768insACATATATTATACATAATATATGTTATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850608	A A	ATATATAT others(23): Show ATATATATTATATATTATATATATTATGTAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA20752.hp2 HG00741.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0109 a0001c0001t0020 a0001c0001t0109	a0001c0001t0020g0233 a0001c0001t0109g0234 a0001c0001t0020g0233 a0001c0001t0109g0234	2	308	0.0065	30	c.784 others(45): Show c.784+665_784+666insATACATAATATATATAATATATAATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02132.hp2 HG03491.hp1 HG01081.hp1 HG02132.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0019 a0001c0001t0144 a0001c0001t0017 a0001c0001t0019 a0001c0001t0144	a0001c0001t0017g0289 a0001c0001t0019g0284 a0001c0001t0144g0287 a0001c0001t0017g0289 a0001c0001t0019g0284 a0001c0001t0144g0287	3	42	0.0714	30	c.237 others(49): Show c.237-11478_237-11477insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMAD3_chr15_67060602_67200169	67183031	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18989.hp2 NA18941.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0046 a0001c0001t0008g0047 a0001c0001t0008g0046 a0001c0001t0008g0047	2	126	0.0159	30	c.871 others(47): Show c.871+1579_871+1580insATATATATATATATATATATATATATAT TT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD4_chr18_51025213_51090042	51042600	T T	TCCTTTGT others(23): Show TCCTTTGTTGCCAGGCTGGTCCTGGCAACCG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	300	0.0033	30	c.-12 others(49): Show c.-127-4320_-127-4319insCCTTTGTTGCCAGGCTGGTCCTGGCA ACCG	SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding	1/11			chr18	TogoVar
SMAD4_chr18_51025213_51090042	51062851	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0278 a0001c0001t0005g0278	1	124	0.0081	30	c.956 others(47): Show c.956-2548_956-2547insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMAD7_chr18_48914853_48955965	48929569	T T	TCTCTCTC others(23): Show TCTCTCTCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	84	0.0119	30	c.743 others(47): Show c.743-7660_743-7659insTGTGTGTGTGTGTGTGTGTGTGTGAGAG AG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar

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