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
STRIT1_chr3_155285227_155298683	155298036	A A	AAAAAGAA others(25): Show AAAAAGAAAGAAAAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0042 a0001c0001t0016g0042	1	196	0.0051	32	c.-44 others(43): Show c.-4405_-4404insCTTTCTTTCTTTCTTTCTTTTTTCTTTCTTTT	STRIT1	ENSG00000240045.2	transcript	ENST00000489090.2	protein_coding		4354		chr3	TogoVar
STRIT1_chr3_155285227_155298683	155298074	A A	AAGAAAGA others(25): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	442	0.0023	32	c.-44 others(43): Show c.-4443_-4442insCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	STRIT1	ENSG00000240045.2	transcript	ENST00000489090.2	protein_coding		4392		chr3	TogoVar
STRIT1_chr3_155285227_155298683	155298078	A A	AAGAAAGA others(25): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG02148.hp2 NA19066.hp1 HG00408.hp2 HG02148.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	3	400	0.0075	32	c.-44 others(43): Show c.-4447_-4446insCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	STRIT1	ENSG00000240045.2	transcript	ENST00000489090.2	protein_coding		4396		chr3	TogoVar
STRN_chr2_36832698_36971536	36963845	T T	TACTTGGG others(25): Show TACTTGGGAGGCTGAGGCAGAAGGATTGCTTAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0049 a0001c0001t0079g0049	1	299	0.0033	32	c.234 others(49): Show c.234+2353_234+2384dupTTAAGCAATCCTTCTGCCTCAGCCTCCC AAGT	STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding	1/17			chr2	TogoVar
STX18_chr4_4413968_4547048	4527792	A A	ATATATAT others(25): Show ATATATATATATGTTTTTATATATATATAATTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03225.hp1 NA18522.hp1 HG01255.hp2 HG03225.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0008 a0001c0001t0002 a0001c0006t0008	a0001c0001t0002g0060 a0001c0006t0008g0232 a0001c0006t0008g0233 a0001c0001t0002g0060 a0001c0006t0008g0232 a0001c0006t0008g0233	3	244	0.0123	32	c.168 others(51): Show c.168+13973_168+14004dupAAATTATATATATATAAAAACATATA TATATA	STX18	ENSG00000168818.10	transcript	ENST00000306200.7	protein_coding	1/10			chr4	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA21309.hp1 HG03540.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0019 a0002c0002t0002 a0002c0002t0019	a0002c0002t0002g0071 a0002c0002t0019g0329 a0002c0002t0002g0071 a0002c0002t0019g0329	2	214	0.0093	32	c.205 others(49): Show c.205+3503_205+3504insATATATATATATATATTTTTTTTTTTTT TTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0073 a0002c0002t0002g0073	1	213	0.0047	32	c.205 others(49): Show c.205+3503_205+3504insATATATATATATATATATTTTTTTTTTT TTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0015 a0002c0002t0002g0015	1	213	0.0047	32	c.205 others(49): Show c.205+3503_205+3504insATATATATATATATATATATTTTTTTTT TTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03579.hp2 NA18954.hp1 HG02976.hp2 HG03579.hp2 NA18954.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0030 a0002c0002t0002 a0002c0002t0030	a0002c0002t0002g0003 a0002c0002t0002g0301 a0002c0002t0030g0327 a0002c0002t0002g0003 a0002c0002t0002g0301 a0002c0002t0030g0327	3	215	0.0140	32	c.205 others(49): Show c.205+3503_205+3504insATATATATATATATATATATATATATTT TTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX6_chr1_180967725_181027870	181023028	A A	ATATATCT others(25): Show ATATATCTCTCTCTCTCTCTCCTCTCTCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 NA20752.hp1 HG00323.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0281 a0001c0001t0001g0282	2	279	0.0072	32	c.-35 others(41): Show c.-356_-355insGAGGAGAGAGAGGAGAGAGAGAGAGAGATATA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		159		chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771710	T T	TATATATG others(25): Show TATATATGATATCTATCTATATATCATATATAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp1 HG01993.hp1 others(1): Show HG00621.hp1 HG00673.hp1 HG01993.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0047 a0001c0001t0002g0075 a0001c0001t0002g0076 others(1): Show a0001c0001t0002g0047 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0005g0197	4	332	0.0120	32	c.439 others(47): Show c.439-932_439-931insCATATATAAATATATGATATCTATCTATAT AT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771727	T T	TATATATC others(25): Show TATATATCATATATAAATATATATGATATATAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	211	0.0047	32	c.439 others(47): Show c.439-932_439-931insCATATATAAATATATATGATATATAGATAT AT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771737	A A	ATATAAAT others(25): Show ATATAAATATATATGATATCTATCTATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01981.hp1 HG02300.hp2 HG00280.hp1 HG01981.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306	3	332	0.0090	32	c.439 others(47): Show c.439-924_439-923insAATATATATGATATCTATCTATATATATTA TA	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP5_chr6_147199417_147395473	147213477	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0015 a0003c0005t0015	a0003c0005t0015g0180 a0003c0005t0015g0180	1	174	0.0057	32	c.248 others(49): Show c.248+7410_248+7411insTGTGTGTGTGTGTGTGTGTGTGTGTGTG CGCG	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STYXL1_chr7_75991342_76053000	75999943	G G	GCCCCCCC others(25): Show GCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0327 a0001c0003t0001g0327	1	354	0.0028	32	c.810 others(47): Show c.810+946_810+947insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GG	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	8/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76005872	A A	AGAGGAGG others(25): Show AGAGGAGGAAGAGAGAGGAGGAGAGAGGAGGAG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	350	0.0029	32	c.454 others(47): Show c.454-469_454-468insCTCCTCCTCTCTCCTCCTCTCTCTTCCTCC TC	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	5/8			chr7	TogoVar
SUCLA2_chr13_47937656_48006273	47943764	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0191 a0002c0002t0001g0191	1	103	0.0097	32	c.131 others(49): Show c.1318-320_1318-319insTATATATATATATATATATATATATATA TATA	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	10/10			chr13	TogoVar
SUGT1_chr13_52647836_52705909	52701802	G G	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG02040.hp2 NA19064.hp1 HG01099.hp2 HG02040.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	3	13	0.2308	32	c.13 others(45): Show c.13967_*13968insACACACACACACACACACACACACACACACAC	SUGT1	ENSG00000165416.15	transcript	ENST00000310528.9	protein_coding		894		chr13	TogoVar
SUN2_chr22_38729734_38760998	38731010	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	60	0.0167	32	c.52 others(43): Show c.5225_*5256dupCACACACACACACACACACACACACACACACA	SUN2	ENSG00000100242.16	transcript	ENST00000689035.1	protein_coding		3723		chr22	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATATATAT others(25): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	214	0.0047	32	c.-14 others(43): Show c.-1456_-1455insTATATATATATTTTTTTTTTTTTTTTTTTTTT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUPT20HL1_chrX_24355639_24372839	24357596	T T	TCCAATTT others(25): Show TCCAATTTGTAAGTGAAGAAACAGGCACACAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	314	0.0032	32	c.-51 others(43): Show c.-5165_-5164insCCAATTTGTAAGTGAAGAAACAGGCACACAAA	SUPT20HL1	ENSG00000223731.4	transcript	ENST00000686983.1	protein_coding		3042		chrX	TogoVar
SUPT3H_chr6_44821726_45382934	44928882	C C	CAAAATAA others(25): Show CAAAATAAATAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	106	0.0094	32	c.912 others(49): Show c.912+3770_912+3771insTTTTTTTTTTTTTTTTTTTTTTTATTTA TTTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	10/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45158298	A A	ATATATAT others(25): Show ATATATATATATATATATATATATAATTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG04199.hp2 HG02109.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0056 a0001c0001t0009g0057 a0001c0001t0009g0056 a0001c0001t0009g0057	2	66	0.0303	32	c.102 others(51): Show c.102-52293_102-52292insAAAAAAATTATATATATATATATATA TATATA	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45230660	G G	GCCTATAT others(25): Show GCCTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03453.hp2 HG04204.hp1 others(1): Show HG00621.hp2 HG03453.hp2 HG04204.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0088 others(1): Show a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0091	4	124	0.0323	32	c.102 others(53): Show c.102-124655_102-124654insTATATATATATATATATATATATA TATATAGG	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45230686	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0084 a0001c0001t0018g0084	1	214	0.0047	32	c.102 others(53): Show c.102-124681_102-124680insAAAATATATATATATATATATATA TATATATA	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45253848	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG00642.hp2 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0204 a0001c0001t0001g0210	2	29	0.0690	32	c.101 others(53): Show c.101+111352_101+111353insATATATATATATATATATATATAT ATATATAT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45253872	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	242	0.0041	32	c.101 others(53): Show c.101+111328_101+111329insGTATATATATATATATATATATAT ATATATAT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT6H_chr17_28657205_28707679	28663828	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18941.hp1 NA18982.hp1 HG03225.hp2 NA18941.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0157 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0001t0002g0157 a0001c0003t0001g0155 a0001c0003t0001g0156	3	5	0.6000	32	c.-32 others(49): Show c.-32+1503_-32+1504insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SUPT6H	ENSG00000109111.15	transcript	ENST00000314616.11	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr17	TogoVar
SURF6_chr9_133323776_133341188	133333952	T T	TGGGGGGG others(25): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0037 a0002c0002t0002g0037	1	408	0.0025	32	c.305 others(47): Show c.305-147_305-146insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CC	SURF6	ENSG00000148296.7	transcript	ENST00000372022.6	protein_coding	2/4			chr9	TogoVar
SUSD1_chr9_112035783_112180297	112165942	G G	GAAAGAAG others(25): Show GAAAGAAGAAAGAAAGAAAGGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	47	0.0213	32	c.104 others(49): Show c.104-8330_104-8329insTCTTTCTTTCTTCCTTTCTTTCTTTCTT CTTT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	1/16			chr9	TogoVar
SUSD1_chr9_112035783_112180297	112165942	G G	GAAAGAAG others(25): Show GAAAGAAGAAAGGAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	47	0.0213	32	c.104 others(49): Show c.104-8330_104-8329insTCTTTCTTTCTTTCTTTCTTCCTTTCTT CTTT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	1/16			chr9	TogoVar
SUSD4_chr1_223215831_223369176	223268011	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0108 a0006c0013t0001g0108	1	99	0.0101	32	c.535 others(47): Show c.535+490_535+491insTATATATATATATATATATATATATATATA TA	SUSD4	ENSG00000143502.16	transcript	ENST00000366878.9	protein_coding	4/8			chr1	TogoVar
SUSD4_chr1_223215831_223369176	223268013	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18965.hp2 NA18987.hp1 others(1): Show NA18612.hp2 NA18965.hp2 NA18987.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0070 a0001c0001t0001g0103 others(1): Show a0001c0001t0001g0037 a0001c0001t0001g0070 a0001c0001t0001g0103 a0001c0001t0001g0107	4	16	0.2500	32	c.535 others(47): Show c.535+488_535+489insTATATATATATATATATATATATATATATA TA	SUSD4	ENSG00000143502.16	transcript	ENST00000366878.9	protein_coding	4/8			chr1	TogoVar
SUZ12_chr17_31932007_32006038	31957895	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	178	0.0056	32	c.456 others(49): Show c.456-8227_456-8226insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SUZ12	ENSG00000178691.11	transcript	ENST00000322652.10	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
SV2C_chr5_76078383_76338956	76197707	C C	CAGATAGA others(25): Show CAGATAGATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp1 HG01891.hp1 others(10): Show HG00735.hp2 HG01074.hp1 HG01891.hp1 HG02145.hp2 HG02258.hp2 HG03209.hp1 HG03704.hp1 HG04199.hp1 NA18952.hp2 NA18975.hp1 NA19001.hp1 NA19001.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0003c0005	a0001c0001t0023 a0001c0001t0048 a0001c0001t0053 others(10): Show a0001c0001t0023 a0001c0001t0048 a0001c0001t0053 a0001c0001t0054 a0001c0001t0117 a0001c0001t0136 a0001c0001t0138 a0001c0002t0114 a0002c0003t0085 a0003c0004t0045 a0003c0004t0069 a0003c0005t0113 a0003c0005t0116	a0001c0001t0023g0102 a0001c0001t0048g0049 a0001c0001t0053g0045 others(10): Show a0001c0001t0023g0102 a0001c0001t0048g0049 a0001c0001t0053g0045 a0001c0001t0054g0063 a0001c0001t0117g0012 a0001c0001t0136g0095 a0001c0001t0138g0150 a0001c0002t0114g0125 a0002c0003t0085g0215 a0003c0004t0045g0050 a0003c0004t0069g0022 a0003c0005t0113g0140 a0003c0005t0116g0126	13	15	0.8667	32	c.761 others(49): Show c.761+2637_761+2638insGATAGATAGATAGATAGATAGATAGATA GATA	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SVEP1_chr9_110360248_110584741	110392133	T T	TTTTATAT others(25): Show TTTTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0005 a0005	a0005c0094 a0005c0094	a0005c0094t0001 a0005c0094t0001	a0005c0094t0001g0177 a0005c0094t0001g0177	1	217	0.0046	32	c.982 others(51): Show c.9823-2547_9823-2546insTATATATATATATATATATATATATA TATAAA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110392151	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0211 a0001c0002t0004g0211	1	353	0.0028	32	c.982 others(51): Show c.9823-2565_9823-2564insGATATATATATATATATATATATATA TATATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110572789	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0178 a0005c0007t0001g0178	1	52	0.0192	32	c.531 others(49): Show c.531+6223_531+6224insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	1/47			chr9	TogoVar
SVIP_chr11_22813927_22834801	22824461	C C	CATATATA others(25): Show CATATATATACGTATATATATATGTATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0096 a0001c0001t0006g0096	1	404	0.0025	32	c.220 others(49): Show c.220-1329_220-1328insATATATATACATATATATATACGTATAT ATAT	SVIP	ENSG00000198168.9	transcript	ENST00000354193.5	protein_coding	3/3			chr11	TogoVar
SVOP_chr12_108902741_109026068	108903287	G G	GAGAAAGG others(25): Show GAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00597.hp2 others(20): Show HG00408.hp1 HG00597.hp1 HG00597.hp2 HG00741.hp2 HG01070.hp2 HG01175.hp2 HG01516.hp2 HG02717.hp2 HG02738.hp1 HG02965.hp2 HG03195.hp2 HG03579.hp1 HG03704.hp2 HG04199.hp1 NA18612.hp1 NA18954.hp2 NA18983.hp1 NA18984.hp1 NA19065.hp1 NA19066.hp1 NA19084.hp2 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 others(12): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0019 a0001c0001t0058 a0001c0001t0076 a0001c0001t0077 a0001c0002t0002 a0001c0002t0006 a0001c0002t0015 a0001c0002t0021 a0001c0002t0024 a0001c0002t0072 a0001c0002t0079 a0001c0002t0082	a0001c0001t0002g0058 a0001c0001t0002g0138 a0001c0001t0002g0143 others(20): Show a0001c0001t0002g0058 a0001c0001t0002g0138 a0001c0001t0002g0143 a0001c0001t0003g0028 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0039 a0001c0001t0003g0050 a0001c0001t0017g0061 a0001c0001t0017g0103 a0001c0001t0019g0056 a0001c0001t0058g0221 a0001c0001t0076g0125 a0001c0001t0077g0074 a0001c0002t0002g0248 a0001c0002t0006g0270 a0001c0002t0015g0150 a0001c0002t0015g0160 a0001c0002t0021g0272 a0001c0002t0024g0237 a0001c0002t0072g0233 a0001c0002t0079g0269 a0001c0002t0082g0216	23	128	0.1797	32	c.92 others(43): Show c.9247_*9248insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCT	SVOP	ENSG00000166111.10	transcript	ENST00000610966.5	protein_coding		4453		chr12	TogoVar
SVOP_chr12_108902741_109026068	108903287	G G	GAGGAAGG others(25): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02723.hp1 HG02970.hp1 others(1): Show HG02055.hp2 HG02723.hp1 HG02970.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0057 a0001c0003t0016 a0001c0004t0016 a0001c0002t0057 a0001c0003t0016 a0001c0004t0016	a0001c0002t0057g0153 a0001c0003t0016g0232 a0001c0003t0016g0236 others(1): Show a0001c0002t0057g0153 a0001c0003t0016g0232 a0001c0003t0016g0236 a0001c0004t0016g0165	4	109	0.0367	32	c.92 others(43): Show c.9247_*9248insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	SVOP	ENSG00000166111.10	transcript	ENST00000610966.5	protein_coding		4453		chr12	TogoVar
SVOP_chr12_108902741_109026068	108904374	A A	AAGAGATT others(25): Show AAGAGATTTTCCTGCCTCAGTCTCTCAAGTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0229 a0001c0002t0001g0229	1	286	0.0035	32	c.81 others(43): Show c.8160_*8161insATTACTTGAGAGACTGAGGCAGGAAAATCTCT	SVOP	ENSG00000166111.10	transcript	ENST00000610966.5	protein_coding		3366		chr12	TogoVar
SWAP70_chr11_9659077_9757993	9671552	A A	ATATATAA others(25): Show ATATATAAATATATTTATATATAAATATATTTC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0264 a0002c0004t0001g0264	1	290	0.0034	32	c.99+ others(47): Show c.99+7280_99+7281insAATATATTTATATATAAATATATTTCTATA TA	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9671675	A A	AATAGAAA others(25): Show AATAGAAATATATAAATATATTTCTATGTATAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(22): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG01070.hp2 HG01106.hp2 HG01175.hp2 HG01258.hp1 HG01433.hp2 HG01515.hp1 HG01928.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02055.hp2 HG02145.hp2 HG02148.hp1 HG02273.hp2 HG02615.hp2 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG02970.hp2 HG02976.hp2 HG03225.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0007 others(2): Show a0001c0002 a0001c0003 a0001c0007 a0002c0001 a0002c0004	a0001c0002t0002 a0001c0002t0011 a0001c0002t0028 others(7): Show a0001c0002t0002 a0001c0002t0011 a0001c0002t0028 a0001c0003t0003 a0001c0003t0010 a0001c0007t0002 a0002c0001t0001 a0002c0001t0005 a0002c0001t0006 a0002c0004t0001	a0001c0002t0002g0106 a0001c0002t0011g0046 a0001c0002t0028g0193 others(22): Show a0001c0002t0002g0106 a0001c0002t0011g0046 a0001c0002t0028g0193 a0001c0003t0003g0196 a0001c0003t0003g0197 a0001c0003t0003g0198 a0001c0003t0003g0199 a0001c0003t0003g0200 a0001c0003t0003g0201 a0001c0003t0003g0240 a0001c0003t0010g0013 a0001c0007t0002g0037 a0001c0007t0002g0039 a0002c0001t0001g0088 a0002c0001t0001g0101 a0002c0001t0005g0045 a0002c0001t0005g0250 a0002c0001t0006g0038 a0002c0001t0006g0040 a0002c0001t0006g0041 a0002c0001t0006g0042 a0002c0001t0006g0043 a0002c0001t0006g0044 a0002c0001t0006g0104 a0002c0004t0001g0014	25	151	0.1656	32	c.99+ others(47): Show c.99+7441_99+7472dupTAAATATATTTCTATGTATACATAGAAATA TA	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9671743	G G	GAAATATA others(25): Show GAAATATATAAATATATTTCTATTTATAAATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA21309.hp1 HG02615.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0027 a0002c0004t0001 a0001c0003t0027 a0002c0004t0001	a0001c0003t0027g0031 a0002c0004t0001g0191 a0001c0003t0027g0031 a0002c0004t0001g0191	2	172	0.0116	32	c.99+ others(47): Show c.99+7472_99+7473insTAAATATATTTCTATTTATAAATATAAATA TA	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9725569	A A	ATATATTT others(25): Show ATATATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0097 a0002c0004t0005g0097	1	236	0.0042	32	c.642 others(47): Show c.642+685_642+686insATATTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SYCE1L_chr16_77194408_77218215	77200274	G G	GTGTGTAT others(25): Show GTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0008 a0006c0008t0008	a0006c0008t0008g0187 a0006c0008t0008g0187	1	260	0.0038	32	c.61+ others(45): Show c.61+763_61+764insGTGTATATATATATATATATATATATATATAT	SYCE1L	ENSG00000205078.6	transcript	ENST00000378644.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
SYCE1L_chr16_77194408_77218215	77200291	T T	TATATATA others(25): Show TATATATACATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp1 NA20129.hp1 HG02615.hp1 HG02630.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0063 a0001c0001t0003g0049 a0001c0001t0003g0063	3	200	0.0150	32	c.61+ others(45): Show c.61+780_61+781insTATATACATATATATATATATATATATATACA	SYCE1L	ENSG00000205078.6	transcript	ENST00000378644.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
SYCE1L_chr16_77194408_77218215	77215054	G G	GTGAAGAC others(25): Show GTGAAGACTTCCCAGGCAGCTGTCAATTATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	440	0.0023	32	c.21 others(43): Show c.2123_*2124insTGAAGACTTCCCAGGCAGCTGTCAATTATTTC	SYCE1L	ENSG00000205078.6	transcript	ENST00000378644.5	protein_coding		1840		chr16	TogoVar
SYCE3_chr22_50546112_50567919	50561535	G G	GGGAGGAG others(25): Show GGGAGGAGCGTGGGGCGGGAGGGGCGTGGGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01884.hp2 others(28): Show HG00140.hp2 HG00639.hp2 HG01884.hp2 HG01891.hp2 HG02109.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02895.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03239.hp2 HG03486.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03834.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0001g0172 others(16): Show a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0180 a0002c0002t0001g0016 a0002c0002t0001g0018 a0002c0002t0001g0028 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0178 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183	31	410	0.0756	32	c.-1+ others(47): Show c.-1+1322_-1+1323insGGCCCCACGCCCCTCCCGCCCCACGCTCCT CC	SYCE3	ENSG00000217442.4	transcript	ENST00000406915.4	protein_coding	1/2			chr22	TogoVar

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