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
SHROOM3_chr4_76430229_76788253	76646225	A A	AATAAATA others(27): Show AATAAATAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0139 a0003c0002t0001g0139	1	31	0.0323	34	c.324 others(53): Show c.324-63928_324-63927insAATAAATATATATATATATATATATA TATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76646225	A A	AATAAATA others(27): Show AATAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA19002.hp2 HG01175.hp2 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0021 a0002c0003t0001 a0001c0001t0021 a0002c0003t0001	a0001c0001t0021g0048 a0002c0003t0001g0129 a0001c0001t0021g0048 a0002c0003t0001g0129	2	32	0.0625	34	c.324 others(53): Show c.324-63928_324-63927insAATATATATATATATATATATATATA TATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76681594	G G	GGGGTGTG others(27): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0034 a0005c0011t0034	a0005c0011t0034g0144 a0005c0011t0034g0144	1	181	0.0055	34	c.324 others(53): Show c.324-28561_324-28560insGGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76681625	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02074.hp2 HG02717.hp1 others(6): Show HG01255.hp2 HG02074.hp2 HG02717.hp1 HG03209.hp1 HG03540.hp1 NA18950.hp2 NA19064.hp1 NA19066.hp1 NA19070.hp2	a0001 a0003 a0017 a0001 a0003 a0017	a0001c0001 a0001c0019 a0003c0002 others(1): Show a0001c0001 a0001c0019 a0003c0002 a0017c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0019t0001 a0003c0002t0001 a0003c0002t0003 a0017c0026t0001	a0001c0001t0001g0174 a0001c0001t0002g0146 a0001c0001t0020g0067 others(6): Show a0001c0001t0001g0174 a0001c0001t0002g0146 a0001c0001t0020g0067 a0001c0019t0001g0030 a0003c0002t0001g0011 a0003c0002t0001g0164 a0003c0002t0003g0209 a0003c0002t0003g0212 a0017c0026t0001g0017	9	37	0.2432	34	c.324 others(53): Show c.324-28522_324-28521insGTGTGTGTGTGTGTGTGTGTATGTAT GTGTGTGT	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SIAH3_chr13_45772242_45856753	45843034	C C	CTCTCTGT others(27): Show CTCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18950.hp1 NA18972.hp2 others(5): Show NA18747.hp1 NA18950.hp1 NA18972.hp2 NA18974.hp2 NA18980.hp1 NA18992.hp1 NA19063.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0090 others(5): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0090 a0001c0001t0002g0076 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0092 a0001c0001t0005g0091	8	81	0.0988	34	c.135 others(51): Show c.135+8460_135+8461insCACACACACACACACACACACACACACA CAGAGA	SIAH3	ENSG00000215475.5	transcript	ENST00000400405.4	protein_coding	1/1			chr13	TogoVar
SIGIRR_chr11_400716_419999	401209	A A	ACCCGCCC others(27): Show ACCCGCCCCCGCACACCCCCGGCCCGCTCACCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0091 a0002c0002t0001g0091	1	219	0.0046	34	c.46 others(45): Show c.4686_*4687insGGGGGTGAGCGGGCCGGGGGTGTGCGGGGGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4506		chr11	TogoVar
SIGIRR_chr11_400716_419999	401240	A A	ACCCCCGC others(27): Show ACCCCCGCCCCGCTCACACCCCGGCCCCCGCTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	73	0.0137	34	c.46 others(45): Show c.4655_*4656insGTGAGCGGGGGCCGGGGTGTGAGCGGGGCGGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4475		chr11	TogoVar
SIGIRR_chr11_400716_419999	401240	A A	ACCCGCCC others(27): Show ACCCGCCCCGCTCACCCCCCGGCCCCCGCTCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	73	0.0137	34	c.46 others(45): Show c.4655_*4656insGGGTGAGCGGGGGCCGGGGGGTGAGCGGGGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4475		chr11	TogoVar
SIGIRR_chr11_400716_419999	403015	C C	CCCCGGGA others(27): Show CCCCGGGACCCCCGCTCACCCCCGCCCCACTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	152	0.0066	34	c.28 others(45): Show c.2880_*2881insTGTGAGTGGGGCGGGGGTGAGCGGGGGTCCCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2700		chr11	TogoVar
SIGLEC14_chr19_51634478_51651825	51645043	A A	AGAGACAG others(27): Show AGAGACAGAAAAAGTAGAATGGTGACTGCTCGGTG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0118 a0001c0001t0034g0118	1	298	0.0034	34	c.754 others(49): Show c.754+433_754+434insCACCGAGCAGTCACCATTCTACTTTTTCTG TCTC	SIGLEC14	ENSG00000254415.4	transcript	ENST00000360844.7	protein_coding	4/6			chr19	TogoVar
SIK3_chr11_116838402_117103428	116915124	A A	ATGTGTGT others(27): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0154	1	171	0.0058	34	c.616 others(53): Show c.616+12061_616+12094dupCACACACACACACACACACACACACA CACACACA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	4/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013901	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0130	1	320	0.0031	34	c.274 others(53): Show c.274-56838_274-56837insATACACACACACACACACACACACAC ACACACAC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013902	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0152	1	361	0.0028	34	c.274 others(53): Show c.274-56839_274-56838insTACACACACACACACACACACACACA CACACACA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013903	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0014	1	241	0.0041	34	c.274 others(53): Show c.274-56840_274-56839insACACACACACACACACACACACACAC ACACACAC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013904	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0003 a0018c0022t0003	a0018c0022t0003g0148 a0018c0022t0003g0148	1	358	0.0028	34	c.274 others(53): Show c.274-56841_274-56840insTACACACACACACACACACACACACA CACACACA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117020246	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp1 HG02818.hp2 HG01074.hp2 HG01243.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0001t0003 a0001c0002t0004	a0001c0001t0003g0147 a0001c0001t0003g0161 a0001c0002t0004g0048 a0001c0001t0003g0147 a0001c0001t0003g0161 a0001c0002t0004g0048	3	231	0.0130	34	c.274 others(53): Show c.274-63183_274-63182insGTGTATATATATATATATATATATAT ATATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117020246	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG03225.hp1 others(8): Show HG01891.hp1 HG02280.hp1 HG03225.hp1 HG03579.hp2 NA18948.hp2 NA18968.hp2 NA18973.hp1 NA18975.hp2 NA18989.hp2 NA18990.hp1 NA19064.hp1	a0001 a0018 a0001 a0018	a0001c0001 a0001c0002 a0018c0022 a0001c0001 a0001c0002 a0018c0022	a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 a0018c0022t0003	a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0003g0144 others(8): Show a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0003g0144 a0001c0001t0003g0162 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0002t0004g0046 a0001c0002t0004g0055 a0018c0022t0003g0148	11	239	0.0460	34	c.274 others(53): Show c.274-63183_274-63182insGTATATATATATATATATATATATAT ATATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117023621	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0025	1	199	0.0050	34	c.274 others(53): Show c.274-66558_274-66557insATATATATATATATATATATATATAT ATTTTTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIL1_chr5_138941724_139203368	139155448	T T	TGAGAGAG others(27): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00642.hp1 others(3): Show HG00323.hp2 HG00423.hp2 HG00642.hp1 HG01261.hp1 HG02132.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0061 others(3): Show a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0089	6	122	0.0492	34	c.-10 others(53): Show c.-10-27596_-10-27595insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9			chr5	TogoVar
SIM2_chr21_36694115_36754917	36737961	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0121 a0001c0002t0045g0121	1	163	0.0061	34	c.851 others(51): Show c.851-3735_851-3734insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
SIMC1_chr5_176233424_176350989	176306185	C C	CCAGCCGC others(27): Show CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	358	0.0028	34	c.173 others(53): Show c.1735-7486_1735-7485insGAGGTGGGGGGGGTCAGCCGCCCCGT CCGGGAGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SINHCAF_chr12_31275584_31331150	31328401	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0301 a0001c0001t0004g0301	1	247	0.0040	34	c.-23 others(45): Show c.-2399_-2398insATATATATATATATATTTTTTTTTTTTTTTTTTT	SINHCAF	ENSG00000139146.14	transcript	ENST00000337682.9	protein_coding		2252		chr12	TogoVar
SIPA1L2_chr1_232392965_232635133	232528102	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp1 HG02895.hp1 others(4): Show HG02257.hp1 HG02630.hp1 HG02895.hp1 HG03453.hp2 HG03491.hp1 NA18522.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0008 a0002c0012 others(1): Show a0001c0003 a0002c0008 a0002c0012 a0002c0023	a0001c0003t0001 a0001c0003t0003 a0001c0003t0006 others(3): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0006 a0002c0008t0026 a0002c0012t0003 a0002c0023t0002	a0001c0003t0001g0172 a0001c0003t0001g0174 a0001c0003t0003g0263 others(4): Show a0001c0003t0001g0172 a0001c0003t0001g0174 a0001c0003t0003g0263 a0001c0003t0006g0011 a0002c0008t0026g0292 a0002c0012t0003g0284 a0002c0023t0002g0071	7	69	0.1014	34	c.-26 others(55): Show c.-269-12495_-269-12494insGATATATATATATATATATATATA TATATATATA	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232528102	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATCTATC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0290 a0001c0005t0003g0290	1	63	0.0159	34	c.-26 others(55): Show c.-269-12495_-269-12494insGATAGATATATATATATATATATA TATATATATA	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SIPA1L3_chr19_37902208_38213369	37937741	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG03490.hp1 HG06807.hp2 HG01258.hp2 HG03490.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0022 a0002c0002t0003 a0001c0001t0001 a0001c0001t0022 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0022g0008 a0002c0002t0003g0017 a0001c0001t0001g0001 a0001c0001t0022g0008 a0002c0002t0003g0017	3	46	0.0652	34	c.-37 others(55): Show c.-379+30406_-379+30407insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38073696	A A	AAGGAAGC others(27): Show AAGGAAGCCCTGGAGGGAAGAAACCAGGGGTCCCC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0120 a0001c0003t0007g0120	1	162	0.0062	34	c.-31 others(53): Show c.-310-7557_-310-7524dupGAAGCCCTGGAGGGAAGAAACCAGGG GTCCCCAG	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIRPA_chr20_1890407_1945592	1944567	C C	CAGCCTCC others(27): Show CAGCCTCCTGCCAGTTTCTAAAATGAACCACAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0030 a0001c0001t0032g0030	1	416	0.0024	34	c.69 others(45): Show c.6999_*7000insAGCCTCCTGCCAGTTTCTAAAATGAACCACAGGA	SIRPA	ENSG00000198053.12	transcript	ENST00000358771.5	protein_coding		3976		chr20	TogoVar
SIRPG_chr20_1624152_1662779	1650002	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01975.hp1 HG02602.hp2 others(1): Show HG00621.hp2 HG01975.hp1 HG02602.hp2 NA18997.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0052 a0002c0002t0003g0121 a0002c0002t0003g0122 others(1): Show a0002c0002t0003g0052 a0002c0002t0003g0121 a0002c0002t0003g0122 a0002c0002t0003g0123	4	139	0.0288	34	c.74- others(47): Show c.74-595_74-594insTATATATATATATATATATATATATATATATA TA	SIRPG	ENSG00000089012.14	transcript	ENST00000303415.7	protein_coding	1/5			chr20	TogoVar
SIRPG_chr20_1624152_1662779	1650004	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0067 a0001c0004t0004g0067	1	71	0.0141	34	c.74- others(47): Show c.74-597_74-596insTATATATATATATATATATATATATATATATA TA	SIRPG	ENSG00000089012.14	transcript	ENST00000303415.7	protein_coding	1/5			chr20	TogoVar
SIRT6_chr19_4169109_4187563	4172439	A A	AGACAGAC others(27): Show AGACAGACAGACAGACACAGCCTGAAACAGACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00544.hp1 others(26): Show HG00280.hp2 HG00408.hp1 HG00544.hp1 HG00733.hp2 HG00738.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG02056.hp2 HG02074.hp1 HG02148.hp1 HG02735.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG04184.hp1 HG04204.hp2 NA18940.hp1 NA18957.hp1 NA18969.hp1 NA18978.hp1 NA18993.hp1 NA18999.hp2 NA19054.hp2 NA19067.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0001t0001 a0001c0001t0004 a0001c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0004g0056 a0001c0004t0001g0024	29	408	0.0711	34	c.21 others(45): Show c.2144_*2177dupCGGGTCTGTTTCAGGCTGTGTCTGTCTGTCTGTC	SIRT6	ENSG00000077463.15	transcript	ENST00000337491.7	protein_coding		1669		chr19	TogoVar
SIT1_chr9_35644295_35655931	35647667	T T	TGAGAGAG others(27): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18997.hp1 NA18979.hp2 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	23	0.0870	34	c.21 others(45): Show c.2180_*2181insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	SIT1	ENSG00000137078.10	transcript	ENST00000259608.8	protein_coding		1627		chr9	TogoVar
SI_chr3_164973898_165083496	165030072	T T	TATAACAG others(27): Show TATAACAGATGCATTTAGTTATTTGGTTATATTAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0003 a0005c0019t0003	a0005c0019t0003g0166 a0005c0019t0003g0166	1	264	0.0038	34	c.289 others(51): Show c.2892+606_2892+639dupTTAATATAACCAAATAACTAAATGCATC TGTTAT	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	25/47			chr3	TogoVar
SI_chr3_164973898_165083496	165065464	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03710.hp2 NA18975.hp1 others(2): Show HG00741.hp1 HG03710.hp2 NA18975.hp1 NA18978.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0021 a0001c0001 a0001c0010 a0001c0021	a0001c0001t0001 a0001c0010t0001 a0001c0021t0001 a0001c0001t0001 a0001c0010t0001 a0001c0021t0001	a0001c0001t0001g0035 a0001c0001t0001g0124 a0001c0001t0001g0150 others(2): Show a0001c0001t0001g0035 a0001c0001t0001g0124 a0001c0001t0001g0150 a0001c0010t0001g0034 a0001c0021t0001g0024	5	116	0.0431	34	c.636 others(47): Show c.636-33_636-32insATATATATATATATATATATATATATATATAT AT	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	6/47			chr3	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0216 a0002c0004t0001g0216	1	194	0.0052	34	c.46+ others(51): Show c.46+16551_46+16552insATATATATTTTTTTTTTTTTTTTTTTTT TTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01993.hp1 HG02040.hp2 others(6): Show HG01943.hp2 HG01993.hp1 HG02040.hp2 HG03492.hp2 NA18945.hp1 NA19005.hp2 NA19088.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0094 others(6): Show a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0094 a0001c0001t0001g0263 a0001c0001t0001g0319 a0001c0001t0002g0074 a0001c0001t0002g0330 a0001c0001t0003g0016 a0001c0001t0005g0018	9	103	0.0874	34	c.46 others(45): Show c.4676_*4709dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(27): Show TACATACATACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01167.hp1 HG00544.hp2 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0260 a0001c0001t0001g0235 a0001c0001t0001g0260	2	96	0.0208	34	c.47 others(45): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(27): Show TACATACATACACATACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	95	0.0105	34	c.47 others(45): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTATGTGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(27): Show TACATACATACATACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	95	0.0105	34	c.47 others(45): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTATGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(27): Show TACATACATACATATACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG02071.hp2 HG02132.hp1 others(7): Show HG00738.hp1 HG02071.hp2 HG02132.hp1 HG02723.hp1 HG03195.hp1 HG03209.hp2 HG03710.hp2 HG04184.hp2 NA19010.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0229 others(7): Show a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0229 a0001c0001t0001g0246 a0001c0001t0001g0254 a0001c0001t0001g0261 a0001c0001t0001g0293 a0001c0001t0001g0310 a0001c0001t0001g0326 a0001c0001t0012g0067	10	104	0.0962	34	c.47 others(45): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTATATGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36636623	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	286	0.0035	34	c.92- others(49): Show c.92-2035_92-2034insATATATATATATATATATATATATATATAT ATTT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	2/7			chr20	TogoVar
SLC10A6_chr4_86818468_86854384	86837312	A A	AGGGAGGG others(27): Show AGGGAGGGAGGGAGGGAGGAAGAGGAAGGAAGTAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0013 a0013	a0013c0009 a0013c0009	a0013c0009t0001 a0013c0009t0001	a0013c0009t0001g0057 a0013c0009t0001g0057	1	343	0.0029	34	c.378 others(51): Show c.378-3889_378-3888insCTACTTCCTTCCTCTTCCTCCCTCCCTC CCTCCC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86837320	A A	AGGGAGGG others(27): Show AGGGAGGGAGGGAGGGAGGAAGAGGAAGGAAGTAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0039 a0008c0008t0001g0039	1	347	0.0029	34	c.378 others(51): Show c.378-3897_378-3896insCTACTTCCTTCCTCTTCCTCCCTCCCTC CCTCCC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86837324	A A	AGGGAGGG others(27): Show AGGGAGGGAGGGAGGGAGGAAGAGGAAGGAAGTAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	348	0.0029	34	c.378 others(51): Show c.378-3901_378-3900insCTACTTCCTTCCTCTTCCTCCCTCCCTC CCTCCC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A7_chr4_146248981_146526940	146468467	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	240	0.0042	34	c.397 others(53): Show c.397-25647_397-25646insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	SLC10A7	ENSG00000120519.16	transcript	ENST00000335472.12	protein_coding	4/11			chr4	TogoVar
SLC12A1_chr15_48201302_48309078	48240030	C C	CATATATA others(27): Show CATATATATATATATATATATATATATCCATATAT	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	233	0.0043	34	c.121 others(53): Show c.1216-1467_1216-1466insATATATATCCATATATATATATATAT ATATATAT	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A2_chr5_128078766_128194677	128126966	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATAATTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02071.hp2 HG02615.hp2 others(1): Show HG01243.hp2 HG02071.hp2 HG02615.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0053 a0001c0002t0001 a0001c0002t0008 a0001c0002t0053	a0001c0002t0001g0023 a0001c0002t0001g0131 a0001c0002t0008g0022 others(1): Show a0001c0002t0001g0023 a0001c0002t0001g0131 a0001c0002t0008g0022 a0001c0002t0053g0134	4	77	0.0519	34	c.104 others(53): Show c.1049-4100_1049-4099insATATATATATATATATATATATATAT AATTTTTT	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A2_chr5_128078766_128194677	128126966	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0045 a0001c0002t0014g0045	1	74	0.0135	34	c.104 others(53): Show c.1049-4100_1049-4099insATATATATATATATATATATATATAT TTTTTTTT	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1085638	A A	AAGGGACG others(27): Show AAGGGACGGAGCCCGCGGGGGTCAGCGCACAGGCG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01192.hp1 HG01255.hp1 others(22): Show HG00733.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01993.hp2 HG02040.hp1 HG02055.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02683.hp2 HG02895.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp1 HG03710.hp2 HG04204.hp1 NA18954.hp2 NA18984.hp1 NA18984.hp2 NA19055.hp2 NA19074.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(5): Show a0001c0001 a0001c0005 a0001c0006 a0001c0013 a0001c0020 a0001c0029 a0001c0035 a0002c0011	a0001c0001t0001 a0001c0001t0007 a0001c0001t0023 others(9): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0023 a0001c0005t0002 a0001c0006t0001 a0001c0006t0021 a0001c0013t0003 a0001c0013t0007 a0001c0020t0001 a0001c0029t0007 a0001c0035t0001 a0002c0011t0002	a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0039 others(22): Show a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0094 a0001c0001t0007g0090 a0001c0001t0023g0033 a0001c0005t0002g0043 a0001c0005t0002g0044 a0001c0006t0001g0048 a0001c0006t0021g0104 a0001c0013t0003g0046 a0001c0013t0007g0101 a0001c0020t0001g0089 a0001c0029t0007g0012 a0001c0035t0001g0054 a0002c0011t0002g0030 a0002c0011t0002g0031 a0002c0011t0002g0034	25	96	0.2604	34	c.676 others(49): Show c.676-199_676-166dupCGCCTGTGCGCTGACCCCCGCGGGCTCCGT CCCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	6/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1085638	A A	AAGGGACG others(27): Show AAGGGACGGAGCCCGCGGGGGTCAGCGCACAGGTG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0047 a0001c0013t0003g0047	1	72	0.0139	34	c.676 others(49): Show c.676-166_676-165insCACCTGTGCGCTGACCCCCGCGGGCTCCGT CCCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	6/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1085663	C C	CGCACAGG others(27): Show CGCACAGGCGAGGGACGGAGCCCGCGGGGGTCAGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	118	0.0085	34	c.676 others(49): Show c.676-191_676-190insACTGACCCCCGCGGGCTCCGTCCCTCGCCT GTGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	6/23			chr5	TogoVar

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