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
STK39_chr2_167949022_168252595	168247544	C C	CCCGCCGC others(14): Show CCCGCCGCCGCCGCCGCCGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG01175.hp2 others(30): Show HG00280.hp1 HG00738.hp1 HG01175.hp2 HG01257.hp1 HG01433.hp2 HG01993.hp1 HG02056.hp1 HG02109.hp1 HG02486.hp2 HG02698.hp2 HG03453.hp1 HG03540.hp1 HG03704.hp1 HG04199.hp1 HG04204.hp1 NA18942.hp1 NA18947.hp1 NA18950.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp2 NA18963.hp1 NA18974.hp1 NA18984.hp2 NA18986.hp1 NA18993.hp2 NA19000.hp1 NA19007.hp1 NA19060.hp2 NA19067.hp2 NA19074.hp2 NA19086.hp1 NA19090.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0008 a0001c0001 a0002c0002 a0005c0008	a0001c0001t0003 a0001c0001t0025 a0001c0001t0036 others(3): Show a0001c0001t0003 a0001c0001t0025 a0001c0001t0036 a0002c0002t0012 a0002c0002t0024 a0005c0008t0003	a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 others(30): Show a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0025g0035 a0001c0001t0036g0267 a0002c0002t0012g0019 a0002c0002t0012g0020 a0002c0002t0012g0021 a0002c0002t0024g0022 a0005c0008t0003g0027	33	145	0.2276	21	c.-11 others(30): Show c.-110_-109insCGGCGGCGGCGGCGGCGGCGG	STK39	ENSG00000198648.12	transcript	ENST00000355999.5	protein_coding	1/18	110		chr2	TogoVar
STK3_chr8_98449633_98830688	98795103	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0167 a0001c0001t0003g0167	1	91	0.0110	21	c.27- others(38): Show c.27-20285_27-20284insATATATATATATTTTTTTTTT	STK3	ENSG00000104375.17	transcript	ENST00000419617.7	protein_coding	1/10			chr8	TogoVar
STK40_chr1_36334628_36390924	36345991	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	110	0.0091	21	c.740 others(38): Show c.740-1728_740-1727insAAAAAAAAAAATATATATATA	STK40	ENSG00000196182.11	transcript	ENST00000373132.4	protein_coding	7/10			chr1	TogoVar
STK40_chr1_36334628_36390924	36345991	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	110	0.0091	21	c.740 others(38): Show c.740-1728_740-1727insAAAAAAAAAAAAATATATATA	STK40	ENSG00000196182.11	transcript	ENST00000373132.4	protein_coding	7/10			chr1	TogoVar
STK4_chr20_44961512_45085021	44969546	A A	ATCTGTCT others(14): Show ATCTGTCTGCTCTATTAACTCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp1 HG01167.hp1 others(27): Show HG00741.hp1 HG01106.hp1 HG01167.hp1 HG01243.hp1 HG01358.hp2 HG02109.hp1 HG02257.hp1 HG02451.hp2 HG02615.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02886.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG06807.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0021 a0001c0001t0046 a0001c0001t0005 a0001c0001t0021 a0001c0001t0046	a0001c0001t0005g0005 a0001c0001t0005g0044 a0001c0001t0005g0045 others(27): Show a0001c0001t0005g0005 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0071 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0005g0076 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0005g0083 a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0021g0072 a0001c0001t0046g0082	30	326	0.0920	21	c.36- others(36): Show c.36-2531_36-2530insCTGTCTGCTCTATTAACTCCT	STK4	ENSG00000101109.13	transcript	ENST00000372806.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
STK4_chr20_44961512_45085021	45011730	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02280.hp1 HG00280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0147 a0002c0002t0003g0182 a0002c0002t0003g0147 a0002c0002t0003g0182	2	279	0.0072	21	c.114 others(42): Show c.1147+10377_1147+10378insATATATATATATATATATATA	STK4	ENSG00000101109.13	transcript	ENST00000372806.8	protein_coding	9/10			chr20	TogoVar
STKLD1_chr9_133371366_133411096	133373909	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0218 a0001c0003t0002g0218	1	130	0.0077	21	c.-25 others(32): Show c.-2565_-2564insAAAAAAAAAAAAAAAAAAAAA	STKLD1	ENSG00000198870.8	transcript	ENST00000371957.4	protein_coding		2456		chr9	TogoVar
STMND1_chr6_17097050_17136378	17126070	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	123	0.0081	21	c.412 others(38): Show c.412-3041_412-3040insATATATATATATATATTTTTT	STMND1	ENSG00000230873.9	transcript	ENST00000536551.6	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
STMP1_chr7_135657514_135681416	135658439	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG03540.hp2 HG02818.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0005 a0001c0001t0012g0005	2	49	0.0408	21	c.-41 others(32): Show c.-4141_-4140insAAAAAAAAAAAAAAAAAAAAA	STMP1	ENSG00000243317.8	transcript	ENST00000507606.3	protein_coding		4074		chr7	TogoVar
STOML3_chr13_38960925_38995831	38964412	A A	AAAAAAAA others(14): Show AAAAAAAAAAACACAAACAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19240.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0001t0004g0305 a0001c0001t0004g0306	2	394	0.0051	21	c.24 others(32): Show c.2412_*2413insGCTTGTTTGTGTTTTTTTTTT	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding		1512		chr13	TogoVar
STOML3_chr13_38960925_38995831	38977750	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	107	0.0093	21	c.53- others(34): Show c.53-974_53-954dupAAAAAAAAAAAAAAAAAAAAA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38987823	T T	TTATATAA others(14): Show TTATATAATATATTATATGTTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02809.hp2 HG02257.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0039 a0001c0001t0007g0247 a0001c0001t0001g0039 a0001c0001t0007g0247	2	393	0.0051	21	c.52+ others(36): Show c.52+2846_52+2847insTAACATATAATATATTATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988138	A A	ATATATTT others(14): Show ATATATTTTATATAAAATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	1	353	0.0028	21	c.52+ others(36): Show c.52+2531_52+2532insATATATTTTATATAAAATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988138	A A	ATATATTT others(14): Show ATATATTTTATATATAATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03453.hp2 HG02559.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0310 a0001c0001t0002g0277 a0001c0001t0001g0310 a0001c0001t0002g0277	2	354	0.0056	21	c.52+ others(36): Show c.52+2531_52+2532insATATATTATATATAAAATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988264	A A	ATATATTT others(14): Show ATATATTTTATATAAAATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0312 a0001c0001t0002g0312	1	393	0.0025	21	c.52+ others(36): Show c.52+2405_52+2406insATATATTTTATATAAAATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STON1_chr2_48525154_48603513	48564405	G G	GTCTTCTT others(14): Show GTCTTCTTCTTCTTCTTCCTCT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0137 a0001c0003t0014g0137	1	353	0.0028	21	c.-47 others(40): Show c.-47-16165_-47-16164insCTCTTCTTCTTCTTCTTCTTC	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STOX2_chr4_183900307_184028526	183932303	G G	GTGTATAC others(14): Show GTGTATACATACAGTATATGTA	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18942.hp1 HG03704.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0012 a0001c0001t0001 a0001c0002t0012	a0001c0001t0001g0197 a0001c0002t0012g0121 a0001c0001t0001g0197 a0001c0002t0012g0121	2	245	0.0082	21	c.166 others(40): Show c.166+25521_166+25541dupACATACAGTATATGTATGTAT	STOX2	ENSG00000173320.12	transcript	ENST00000308497.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
STRBP_chr9_123116617_123273586	123200734	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp2 NA18963.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0001 a0001c0001t0029	a0001c0001t0001g0235 a0001c0001t0029g0206 a0001c0001t0001g0235 a0001c0001t0029g0206	2	20	0.1000	21	c.-16 others(42): Show c.-164-16457_-164-16437dupAAAAAAAAAAAAAAAAAAAAA	STRBP	ENSG00000165209.19	transcript	ENST00000348403.10	protein_coding	2/18			chr9	TogoVar
STRIT1_chr3_155285227_155298683	155298036	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	196	0.0051	21	c.-44 others(32): Show c.-4405_-4404insCTTTCTTTCTTTCTTTCTTTC	STRIT1	ENSG00000240045.2	transcript	ENST00000489090.2	protein_coding		4354		chr3	TogoVar
STRN3_chr14_30888804_31031379	30929967	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAACAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0207 a0001c0010t0002g0207	1	161	0.0062	21	c.989 others(36): Show c.989-657_989-656insGTTTTTTTGTTTTTTTTTTTT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	7/17			chr14	TogoVar
STRN3_chr14_30888804_31031379	30967264	A A	AGGGGGGA others(14): Show AGGGGGGAAGAGAGGCAGAGAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0301 a0001c0001t0012g0301	1	362	0.0028	21	c.283 others(40): Show c.283-11043_283-11023dupCTCTCTGCCTCTCTTCCCCCC	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	1/17			chr14	TogoVar
STRN3_chr14_30888804_31031379	30967266	G G	GGGGGAAG others(14): Show GGGGGAAGAGAGGCAGAGAGGC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03195.hp2 HG02970.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0302 a0001c0001t0012g0303 a0001c0001t0012g0302 a0001c0001t0012g0303	2	362	0.0055	21	c.283 others(40): Show c.283-11025_283-11024insGCCTCTCTGCCTCTCTTCCCC	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	1/17			chr14	TogoVar
STX17_chr9_99901654_99979534	99904413	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0117	1	19	0.0526	21	c.-23 others(32): Show c.-2356_-2355insTTTTTTTTTTTTTTTTTTTTT	STX17	ENSG00000136874.11	transcript	ENST00000259400.11	protein_coding		2240		chr9	TogoVar
STX2_chr12_130784600_130844250	130818183	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0032 a0002c0002t0007g0032	1	370	0.0027	21	c.205 others(38): Show c.205+3505_205+3506insATATATATATATATATATATA	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATACATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0107 a0002c0002t0036g0107	1	213	0.0047	21	c.205 others(38): Show c.205+3503_205+3504insATATGTATTTTTTTTTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02970.hp2 HG02615.hp2 HG02970.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0063 a0003c0003t0003g0064 a0003c0003t0003g0063 a0003c0003t0003g0064	2	214	0.0093	21	c.205 others(38): Show c.205+3503_205+3504insATATATATATTTTTTTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0085 a0002c0002t0002g0085	1	213	0.0047	21	c.205 others(38): Show c.205+3503_205+3504insATATATATATATATATATTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130843004	A A	AGGAAGGA others(14): Show AGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0015 a0002c0002t0002g0078 a0002c0002t0002g0015 a0002c0002t0002g0078	2	329	0.0061	21	c.-39 others(32): Show c.-3906_-3905insCTTCCTTCCTTCCTTCCTTCC	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding		3755		chr12	TogoVar
STX3_chr11_59750376_59810878	59772974	A A	AAACACAC others(14): Show AAACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	71	0.0141	21	c.31- others(34): Show c.31-236_31-235insACACACACACACACACACACA	STX3	ENSG00000166900.17	transcript	ENST00000337979.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
STX6_chr1_180967725_181027870	181023050	C C	CTCTCTCT others(14): Show CTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 NA18993.hp1 HG04115.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0081 a0001c0001t0017g0063 a0001c0001t0001g0081 a0001c0001t0017g0063	2	259	0.0077	21	c.-37 others(30): Show c.-378_-377insAGAGAGAGAGAGAGAGAGAGA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		181		chr1	TogoVar
STX6_chr1_180967725_181027870	181023077	C C	CTCTCTCT others(14): Show CTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0288 a0001c0002t0002g0288	1	276	0.0036	21	c.-40 others(30): Show c.-405_-404insAGAGAGAGAGAGAGAGAGAGA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		208		chr1	TogoVar
STX8_chr17_9245471_9580820	9277364	T T	TAGTGAGG others(14): Show TAGTGAGGGCAGGGTCTCAATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0183 a0001c0008t0001g0183	1	184	0.0054	21	c.644 others(40): Show c.644-26740_644-26720dupCATTGAGACCCTGCCCTCACT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9471031	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02148.hp1 HG03195.hp2 others(2): Show HG02055.hp2 HG02148.hp1 HG03195.hp2 HG04184.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0009 a0001c0001 a0001c0003 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0009t0001	a0001c0001t0001g0101 a0001c0001t0002g0135 a0001c0001t0002g0171 others(2): Show a0001c0001t0001g0101 a0001c0001t0002g0135 a0001c0001t0002g0171 a0001c0003t0001g0071 a0002c0009t0001g0028	5	28	0.1786	21	c.541 others(40): Show c.541+20777_541+20797dupAAAAAAAAAAAAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9535424	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18982.hp1 NA19004.hp2 others(2): Show NA18959.hp2 NA18982.hp1 NA19004.hp2 NA19079.hp1 NA19090.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0078 a0001c0004t0001g0080 a0001c0004t0001g0081 others(2): Show a0001c0004t0001g0078 a0001c0004t0001g0080 a0001c0004t0001g0081 a0001c0004t0001g0089 a0001c0004t0002g0079	5	6	0.8333	21	c.323 others(38): Show c.323+9727_323+9747dupAAAAAAAAAAAAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9546590	G G	GTTTTTTG others(14): Show GTTTTTTGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	116	0.0086	21	c.213 others(38): Show c.213-1309_213-1308insAAAAAAAAAAAAAACAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	3/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9546590	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	116	0.0086	21	c.213 others(38): Show c.213-1309_213-1308insAAAAAAAAAAAAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	3/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9559760	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	7	0.1429	21	c.118 others(38): Show c.118-2233_118-2232insAAAAATATATATATATATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9559760	A A	ATATATTT others(14): Show ATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18906.hp2 HG03516.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0003 a0001c0002t0003g0188 a0001c0002t0002g0003 a0001c0002t0003g0188	2	8	0.2500	21	c.118 others(38): Show c.118-2233_118-2232insAAAAAAAAAAAAAAAAATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STXBP3_chr1_108741674_108814523	108771505	G G	GATATATA others(14): Show GATATATATATCTATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18522.hp1 HG04184.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0263 a0002c0003t0001g0231 a0001c0002t0001g0263 a0002c0003t0001g0231	2	240	0.0083	21	c.439 others(38): Show c.439-1153_439-1152insTATCTATATATATAATATATA	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771505	G G	GATATATA others(14): Show GATATATATCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	239	0.0042	21	c.439 others(38): Show c.439-1153_439-1152insTCTATATATATATAATATATA	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771558	G G	GATATATA others(14): Show GATATATATCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	229	0.0044	21	c.439 others(38): Show c.439-1100_439-1099insTCTATATATATATAATATATA	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP5L_chr3_120903205_121429761	120984632	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02897.hp1 NA20805.hp1 HG02886.hp1 HG02897.hp1 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0005 a0004c0004t0005 a0001c0001t0005 a0004c0004t0005	a0001c0001t0005g0263 a0001c0001t0005g0280 a0004c0004t0005g0275 a0001c0001t0005g0263 a0001c0001t0005g0280 a0004c0004t0005g0275	3	108	0.0278	21	c.287 others(40): Show c.287+29597_287+29617dupTTTTTTTTTTTTTTTTTTTTT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121312446	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04184.hp1 HG02735.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0281 a0001c0001t0003g0252 a0001c0001t0001g0281 a0001c0001t0003g0252	2	55	0.0364	21	c.211 others(40): Show c.2111-6017_2111-5997dupTTTTTTTTTTTTTTTTTTTTT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP6_chr14_24804454_25055147	25002359	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTCTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0148 a0001c0001t0066g0148	1	143	0.0070	21	c.-32 others(40): Show c.-32-27510_-32-27509insAAAAGAAAAAAAAAAAAAAAA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	1/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	25002359	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01192.hp1 others(1): Show HG01168.hp2 HG01169.hp1 HG01192.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0079 a0001c0001t0087 a0001c0001t0035 a0001c0001t0079 a0001c0001t0087	a0001c0001t0035g0158 a0001c0001t0035g0164 a0001c0001t0079g0159 others(1): Show a0001c0001t0035g0158 a0001c0001t0035g0164 a0001c0001t0079g0159 a0001c0001t0087g0157	4	146	0.0274	21	c.-32 others(40): Show c.-32-27510_-32-27509insAAAAAAAAAAAAAAAAAAAAA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	1/5			chr14	TogoVar
STYXL1_chr7_75991342_76053000	76017866	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01175.hp1 HG01243.hp1 others(38): Show HG00673.hp2 HG01175.hp1 HG01243.hp1 HG01433.hp1 HG01496.hp2 HG01943.hp1 HG01952.hp2 HG02135.hp1 HG02155.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02922.hp1 HG02976.hp2 HG03688.hp1 HG03688.hp2 HG03942.hp1 NA18522.hp1 NA18612.hp2 NA18940.hp1 NA18944.hp2 NA18953.hp1 NA18959.hp2 NA18961.hp1 NA18967.hp2 NA18973.hp1 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19068.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp2 NA19088.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0004 others(1): Show a0001c0002 a0001c0003 a0002c0004 a0003c0006	a0001c0002t0002 a0001c0003t0001 a0001c0003t0007 others(3): Show a0001c0002t0002 a0001c0003t0001 a0001c0003t0007 a0001c0003t0009 a0002c0004t0001 a0003c0006t0002	a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0046 others(38): Show a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0046 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0060 a0001c0002t0002g0069 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0126 a0001c0002t0002g0136 a0001c0003t0001g0165 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0281 a0001c0003t0001g0282 a0001c0003t0001g0283 a0001c0003t0001g0288 a0001c0003t0001g0293 a0001c0003t0001g0297 a0001c0003t0001g0299 a0001c0003t0001g0301 a0001c0003t0001g0302 a0001c0003t0001g0313 a0001c0003t0001g0316 a0001c0003t0001g0317 a0001c0003t0001g0320 a0001c0003t0001g0322 a0001c0003t0001g0323 a0001c0003t0001g0324 a0001c0003t0001g0325 a0001c0003t0001g0326 a0001c0003t0001g0346 a0001c0003t0007g0003 a0001c0003t0009g0349 a0002c0004t0001g0201 a0003c0006t0002g0039	41	53	0.7736	21	c.308 others(38): Show c.308-3980_308-3979insTTTTTTTTTTTTTTTTTTTTT	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	4/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76017866	C C	CAAAAGAA others(14): Show CAAAAGAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0086 a0001c0010t0002g0086	1	13	0.0769	21	c.308 others(38): Show c.308-3980_308-3979insTTTTTTTTTTTTTTTTCTTTT	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	4/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76042390	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0180 a0002c0004t0001g0180	1	22	0.0455	21	c.-5+ others(36): Show c.-5+5251_-5+5271dupAAAAAAAAAAAAAAAAAAAAA	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8			chr7	TogoVar
SUB1_chr5_32580557_32609079	32590762	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	83	0.0120	21	c.73- others(34): Show c.73-798_73-778dupTTTTTTTTTTTTTTTTTTTTT	SUB1	ENSG00000113387.12	transcript	ENST00000265073.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
SUCLG2_chr3_67369719_67659612	67422473	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18968.hp2 HG02809.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0206 a0001c0001t0004g0086 a0001c0001t0001g0206 a0001c0001t0004g0086	2	36	0.0556	21	c.106 others(42): Show c.1063-21643_1063-21623dupTTTTTTTTTTTTTTTTTTTTT	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar

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