Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SCAP_chr3_47408681_47480941	47473080	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp2 HG02630.hp1 others(4): Show HG02080.hp1 HG02080.hp2 HG02630.hp1 HG04228.hp1 NA19010.hp1 NA19055.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0047 a0001c0001t0001g0175 a0001c0001t0001g0176 others(4): Show a0001c0001t0001g0047 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0271 a0001c0001t0001g0282 a0001c0001t0003g0272 a0001c0001t0003g0273	7	33	0.2121	27	c.-99 others(44): Show c.-99+2718_-99+2719insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	1/22			chr3	TogoVar
SCARA5_chr8_27864883_27997673	27918902	G G	GAGGAGGA others(20): Show GAGGAGGAGGAAGATGAGGAGGAGGTGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03195.hp1 HG02145.hp1 HG03195.hp1	a0001 a0003 a0001 a0003	a0001c0009 a0003c0011 a0001c0009 a0003c0011	a0001c0009t0011 a0003c0011t0034 a0001c0009t0011 a0003c0011t0034	a0001c0009t0011g0123 a0003c0011t0034g0139 a0001c0009t0011g0123 a0003c0011t0034g0139	2	312	0.0064	27	c.916 others(44): Show c.916+2668_916+2669insTCACCTCCTCCTCATCTTCCTCCTCCT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918940	G G	GGGGAAGG others(20): Show GGGGAAGGAGGAGGGGAAGGAGGAGGAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01261.hp1 HG00738.hp2 HG01261.hp1	a0001 a0003 a0001 a0003	a0001c0007 a0003c0014 a0001c0007 a0003c0014	a0001c0007t0001 a0003c0014t0029 a0001c0007t0001 a0003c0014t0029	a0001c0007t0001g0118 a0003c0014t0029g0018 a0001c0007t0001g0118 a0003c0014t0029g0018	2	298	0.0067	27	c.916 others(44): Show c.916+2630_916+2631insTTCCTCCTCCTTCCCCTCCTCCTTCCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918942	G G	GGAAGGAG others(20): Show GGAAGGAGGAGGGGAAGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02015.hp2 HG01192.hp1 HG02015.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0010 a0001c0004 a0002c0010	a0001c0004t0003 a0002c0010t0055 a0001c0004t0003 a0002c0010t0055	a0001c0004t0003g0212 a0002c0010t0055g0246 a0001c0004t0003g0212 a0002c0010t0055g0246	2	177	0.0113	27	c.916 others(44): Show c.916+2628_916+2629insTCCTCCTCCTCCTTCCCCTCCTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCEL_chr13_77530706_77650263	77633442	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01891.hp1 NA18983.hp1 others(1): Show HG00544.hp1 HG01891.hp1 NA18983.hp1 NA19088.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0005 a0002c0001 a0003c0005	a0002c0001t0001 a0002c0001t0003 a0003c0005t0002 a0002c0001t0001 a0002c0001t0003 a0003c0005t0002	a0002c0001t0001g0006 a0002c0001t0003g0299 a0003c0005t0002g0042 a0002c0001t0001g0006 a0002c0001t0003g0299 a0003c0005t0002g0042	4	105	0.0381	27	c.169 others(44): Show c.1692-913_1692-912insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCFD2_chr4_52867982_53371061	52959897	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	96	0.0104	27	c.156 others(48): Show c.1562-39028_1562-39027insGTGTGTGTGTGTGTGTGTGTGTGT GTG	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCGB1C1_chr11_188078_199575	196578	C C	CTGGTGAG others(20): Show CTGGTGAGGGGACATGGTGAGGGGAGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02486.hp1 HG02559.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0001 a0001c0004t0002g0001	2	350	0.0057	27	c.21 others(38): Show c.2128_*2129insTGGTGAGGGGACATGGTGAGGGGAGCA	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		2004		chr11	TogoVar
SCGB1C2_chr17_132569_144067	140958	T T	TTGGTGAG others(20): Show TTGGTGAGGGGACCTGGTGAGGAGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02523.hp2 HG03942.hp1 others(2): Show HG02451.hp2 HG02523.hp2 HG03942.hp1 NA18951.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0004 a0001c0001t0002g0008	5	246	0.0203	27	c.20 others(38): Show c.2016_*2017insTGGTGAGGGGACCTGGTGAGGAGGACC	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1892		chr17	TogoVar
SCGB1C2_chr17_132569_144067	141484	C C	CTGGTGAG others(20): Show CTGGTGAGGAGGACATGGGGGGGGACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02523.hp2 HG02056.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0006 a0001c0001t0002g0008	2	72	0.0278	27	c.25 others(38): Show c.2542_*2543insTGGTGAGGAGGACATGGGGGGGGACCT	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2418		chr17	TogoVar
SCHIP1_chr3_159268244_159902359	159842997	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03540.hp2 HG03471.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0055 a0001c0001t0001g0073	2	81	0.0247	27	c.760 others(46): Show c.760-23163_760-23162insTTTTTTTTTTTTTTTTTTTTTTTTTT T	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159843001	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03130.hp2 NA19058.hp1 HG02886.hp2 HG03130.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0007 a0001c0001t0001g0081 a0001c0001t0001g0088	3	7	0.4286	27	c.760 others(46): Show c.760-23160_760-23134dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159867970	G G	GTGATTTA others(20): Show GTGATTTATATATATATATATAAATCAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01978.hp2 HG02027.hp2 others(5): Show HG01167.hp1 HG01978.hp2 HG02027.hp2 HG02965.hp2 HG02976.hp2 HG03579.hp1 NA19007.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0065 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0098 a0001c0001t0005g0080 a0001c0002t0001g0086 a0002c0003t0001g0091	8	100	0.0800	27	c.878 others(44): Show c.878+1707_878+1733dupTATAAATCAATGATTTATATATATATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03516.hp2 NA19030.hp2 others(1): Show HG02630.hp1 HG03516.hp2 NA19030.hp2 NA20300.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0002c0003 a0011c0013 a0002c0002 a0002c0003 a0011c0013	a0002c0002t0002 a0002c0002t0020 a0002c0003t0089 others(1): Show a0002c0002t0002 a0002c0002t0020 a0002c0003t0089 a0011c0013t0014	a0002c0002t0002g0247 a0002c0002t0020g0246 a0002c0003t0089g0235 others(1): Show a0002c0002t0002g0247 a0002c0002t0020g0246 a0002c0003t0089g0235 a0011c0013t0014g0238	4	169	0.0237	27	c.354 others(42): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657572	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01993.hp2 HG03688.hp1 HG01993.hp2 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0008 a0002c0003t0002 a0002c0002t0008 a0002c0003t0002	a0002c0002t0008g0271 a0002c0003t0002g0255 a0002c0002t0008g0271 a0002c0003t0002g0255	2	183	0.0109	27	c.48 others(38): Show c.4858_*4859insATATATATATATATATATATTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCLT1_chr4_128878993_129098539	128975040	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	78	0.0128	27	c.687 others(44): Show c.687-4573_687-4572insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	9/20			chr4	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0019 a0002c0004t0004g0019	1	174	0.0057	27	c.-59 others(44): Show c.-59-5837_-59-5836insATATTTTTTTTTTTTTTTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0129 a0001c0001t0014g0129	1	174	0.0057	27	c.-59 others(44): Show c.-59-5837_-59-5836insATATATATATATATATATATATTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN11A_chr3_38840764_39056944	38950064	C C	CCCCACCC others(20): Show CCCCACCCCCCCCCCCACCCCCCCCCCA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0290 a0001c0006t0006g0290	1	310	0.0032	27	c.267 others(40): Show c.267+31_267+32insTGGGGGGGGGGTGGGGGGGGGGGTGGG	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	5/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	39047018	G G	GCCCCCCA others(20): Show GCCCCCCACCCCCCACCCCCACCCCCAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02257.hp1 HG00639.hp2 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0204 a0001c0002t0002g0205	2	310	0.0065	27	c.-40 others(46): Show c.-404+4816_-404+4842dupATGGGGGTGGGGGTGGGGGGTGGGGG G	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	1/29			chr3	TogoVar
SCN1B_chr19_35025470_35045449	35042575	C C	CTTTGCTT others(20): Show CTTTGCTTGCTAGCGCCCTCGTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	402	0.0025	27	c.27 others(38): Show c.2784_*2785insTTTGCTTGCTAGCGCCCTCGTCCTTCT	SCN1B	ENSG00000105711.14	transcript	ENST00000262631.11	protein_coding		2127		chr19	TogoVar
SCN8A_chr12_51586233_51817864	51811297	A A	ATCCCCAC others(20): Show ATCCCCACTCACCCATTGCATGTGGCAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0155 a0001c0001t0019g0155	1	200	0.0050	27	c.38 others(38): Show c.3877_*3903dupCACCCATTGCATGTGGCATTCCCCACT	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	27/27	3904	INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN9A_chr2_166190185_166380944	166313008	T T	TTAAATAA others(20): Show TTAAATAATATAGTTATTTAATTTTCTG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02615.hp1 HG02976.hp2 others(7): Show HG02523.hp2 HG02615.hp1 HG02976.hp2 HG03139.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18973.hp2 NA19005.hp1 NA19011.hp2	a0001 a0005 a0022 a0001 a0005 a0022	a0001c0002 a0001c0003 a0001c0007 others(2): Show a0001c0002 a0001c0003 a0001c0007 a0005c0027 a0022c0047	a0001c0002t0010 a0001c0002t0021 a0001c0003t0010 others(5): Show a0001c0002t0010 a0001c0002t0021 a0001c0003t0010 a0001c0003t0014 a0001c0003t0015 a0001c0007t0005 a0005c0027t0020 a0022c0047t0005	a0001c0002t0010g0007 a0001c0002t0021g0011 a0001c0003t0010g0003 others(7): Show a0001c0002t0010g0007 a0001c0002t0021g0011 a0001c0003t0010g0003 a0001c0003t0010g0004 a0001c0003t0010g0008 a0001c0003t0014g0009 a0001c0003t0015g0063 a0001c0007t0005g0073 a0005c0027t0020g0005 a0022c0047t0005g0072	10	154	0.0649	27	c.-50 others(44): Show c.-50-1203_-50-1202insCAGAAAATTAAATAACTATATTATTTA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23365620	A A	AGAAAGAG others(20): Show AGAAAGAGAGAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	179	0.0056	27	c.777 others(44): Show c.777-2236_777-2235insGAAAGAGAGAGAAAGAAAGAAAGAAAG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	4/12			chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23365620	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02602.hp1 others(1): Show HG01168.hp1 HG01169.hp1 HG02602.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0183 others(1): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0183 a0001c0002t0001g0142	4	182	0.0220	27	c.777 others(44): Show c.777-2236_777-2235insGAGAGAGAGAGAAAGAAAGAAAGAAAG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	4/12			chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1289847	G G	GTCTCTGC others(20): Show GTCTCTGCTCCGTCCCCCGTGTCTCTGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0070 a0002c0003t0001g0070	1	227	0.0044	27	c.166 others(44): Show c.1663-422_1663-421insTCTGCTCCGTCCCCCGTGTCTCTGCTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289848	T T	TCTCTGCC others(20): Show TCTCTGCCCCGTCCCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA19081.hp2 HG02004.hp1 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0042 a0002c0002t0001g0025 a0002c0002t0001g0042	2	240	0.0083	27	c.166 others(44): Show c.1663-422_1663-421insTCTGCCCCGTCCCCCGTGTCTCTGCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23180597	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 NA18956.hp2 HG02738.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0232 a0001c0001t0001g0127 a0001c0001t0001g0232	2	56	0.0357	27	c.-22 others(38): Show c.-2261_-2260insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding		2147		chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23181635	G G	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0299 a0001c0002t0004g0299	1	318	0.0031	27	c.-12 others(38): Show c.-1223_-1222insAAAGAAAGAAAGAAAGAAAGAAAGAAA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding		1109		chr16	TogoVar
SCUBE1_chr22_43192280_43348372	43280490	T T	TCCTCCTG others(20): Show TCCTCCTGTCCCTTCCCCTCACCCATCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01123.hp1 others(10): Show HG00642.hp1 HG00735.hp2 HG01123.hp1 HG01123.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01928.hp1 HG01978.hp1 HG01993.hp1 HG02148.hp2 HG03017.hp2 HG04115.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0003c0001 a0004c0047 a0001c0003 a0003c0001 a0004c0047	a0001c0003t0003 a0003c0001t0001 a0004c0047t0060 a0001c0003t0003 a0003c0001t0001 a0004c0047t0060	a0001c0003t0003g0034 a0001c0003t0003g0039 a0001c0003t0003g0053 others(10): Show a0001c0003t0003g0034 a0001c0003t0003g0039 a0001c0003t0003g0053 a0001c0003t0003g0054 a0001c0003t0003g0076 a0001c0003t0003g0212 a0001c0003t0003g0215 a0001c0003t0003g0227 a0003c0001t0001g0046 a0003c0001t0001g0047 a0003c0001t0001g0204 a0003c0001t0001g0213 a0004c0047t0060g0055	13	275	0.0473	27	c.484 others(46): Show c.484+10555_484+10556insGGATGGGTGAGGGGAAGGGACAGGAG G	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280494	C C	CCTGTCCC others(20): Show CCTGTCCCTTCCCCTCACCCATCCCCCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0048 a0003c0001t0048	a0003c0001t0048g0141 a0003c0001t0048g0141	1	50	0.0200	27	c.484 others(46): Show c.484+10551_484+10552insAGGGGGATGGGTGAGGGGAAGGGACA G	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281195	C C	CTTGGCCA others(20): Show CTTGGCCACCCTCCTGTCACCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0088 a0003c0001t0001g0090 a0003c0001t0001g0088 a0003c0001t0001g0090	2	265	0.0075	27	c.484 others(44): Show c.484+9850_484+9851insAGAGGGAGGTGACAGGAGGGTGGCCAA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281514	A A	AGCCATCC others(20): Show AGCCATCCTCCTGTCACCTCCCTCTTTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01192.hp1 HG01496.hp2 HG00099.hp1 HG01192.hp1 HG01496.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0003c0001 a0001c0003 a0002c0002 a0003c0001	a0001c0003t0003 a0002c0002t0002 a0003c0001t0001 a0001c0003t0003 a0002c0002t0002 a0003c0001t0001	a0001c0003t0003g0134 a0002c0002t0002g0068 a0003c0001t0001g0142 a0001c0003t0003g0134 a0002c0002t0002g0068 a0003c0001t0001g0142	3	268	0.0112	27	c.484 others(44): Show c.484+9531_484+9532insCAAAGAGGGAGGTGACAGGAGGATGGC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0093	1	121	0.0083	27	c.120 others(44): Show c.1208-967_1208-966insAAATATATATATATATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02523.hp1 HG03017.hp2 HG00558.hp2 HG02523.hp1 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0002c0001t0004 a0001c0002t0001 a0001c0002t0002 a0002c0001t0004	a0001c0002t0001g0085 a0001c0002t0002g0060 a0002c0001t0004g0266 a0001c0002t0001g0085 a0001c0002t0002g0060 a0002c0001t0004g0266	3	123	0.0244	27	c.120 others(44): Show c.1208-967_1208-966insAAAAATATATATATATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18985.hp2 HG02922.hp1 NA18985.hp2	a0006 a0009 a0006 a0009	a0006c0031 a0009c0017 a0006c0031 a0009c0017	a0006c0031t0005 a0009c0017t0004 a0006c0031t0005 a0009c0017t0004	a0006c0031t0005g0210 a0009c0017t0004g0293 a0006c0031t0005g0210 a0009c0017t0004g0293	2	122	0.0164	27	c.120 others(44): Show c.1208-967_1208-966insAAAAAAATATATATATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054726	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0022 a0001c0002t0002g0022	1	352	0.0028	27	c.120 others(44): Show c.1208-968_1208-967insTATATATATATATATATATATATATAT	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCYL1_chr11_65520083_65543704	65524863	G G	GCCCCCCC others(20): Show GCCCCCCCCATCCCCGCCCCTCCCTAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	267	0.0037	27	c.-29 others(36): Show c.-291_-290insCCCCCCCCATCCCCGCCCCTCCCTAGC	SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding		219		chr11	TogoVar
SDAD1_chr4_75944915_75995945	75978982	G G	GAAAAAAA others(20): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	34	0.0294	27	c.295 others(44): Show c.295-1253_295-1227dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding	3/21			chr4	TogoVar
SDC2_chr8_96488813_96616790	96565097	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0137 a0002c0002t0001g0137	1	306	0.0033	27	c.61- others(44): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTGTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC3_chr1_30864466_30913758	30897590	C C	CCCAGCAA others(20): Show CCCAGCAAGGCCTGATTGGCCCTACATT	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA19060.hp2 HG02129.hp2 NA19060.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0005 a0001c0001t0002 a0003c0003t0005	a0001c0001t0002g0253 a0003c0003t0005g0043 a0001c0001t0002g0253 a0003c0003t0005g0043	2	384	0.0052	27	c.138 others(46): Show c.138+10832_138+10858dupAATGTAGGGCCAATCAGGCCTTGCTG G	SDC3	ENSG00000162512.16	transcript	ENST00000339394.7	protein_coding	1/4			chr1	TogoVar
SDHAF1_chr19_35990188_36001312	35990823	G G	GGAAGGAG others(20): Show GGAAGGAGGAAGGAGGAAGAAGGAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA19001.hp1 NA18940.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	203	0.0099	27	c.-44 others(38): Show c.-4452_-4451insGAAGGAGGAAGGAGGAAGAAGGAGGAA	SDHAF1	ENSG00000205138.4	transcript	ENST00000378887.4	protein_coding		4364		chr19	TogoVar
SDHAF3_chr7_97112698_97186763	97183901	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG03942.hp2 HG04184.hp1 others(2): Show HG02698.hp2 HG03942.hp2 HG04184.hp1 NA18966.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0210 a0001c0001t0001g0257 a0001c0001t0001g0277 others(2): Show a0001c0001t0001g0210 a0001c0001t0001g0257 a0001c0001t0001g0277 a0001c0001t0001g0329 a0001c0001t0002g0035	5	40	0.1250	27	c.26 others(38): Show c.2686_*2687insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding		2139		chr7	TogoVar
SDHC_chr1_161309381_161368206	161339662	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	56	0.0179	27	c.180 others(42): Show c.180-930_180-904dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3299677	A A	AGCTGCTG others(20): Show AGCTGCTGCTGCTGCTGCTGCTGCTGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01361.hp2 others(18): Show HG01109.hp1 HG01243.hp1 HG01361.hp2 HG01891.hp1 HG01891.hp2 HG02145.hp1 HG02622.hp2 HG02630.hp1 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03491.hp2 HG03540.hp2 HG03688.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0007 a0012 a0015 a0020 a0031 a0034	a0001c0002 a0001c0008 a0001c0011 others(16): Show a0001c0002 a0001c0008 a0001c0011 a0001c0014 a0001c0036 a0001c0049 a0001c0060 a0002c0030 a0002c0041 a0002c0043 a0003c0047 a0005c0058 a0005c0065 a0007c0006 a0012c0015 a0015c0074 a0020c0063 a0031c0069 a0034c0052	a0001c0002t0040 a0001c0008t0007 a0001c0011t0039 others(16): Show a0001c0002t0040 a0001c0008t0007 a0001c0011t0039 a0001c0014t0018 a0001c0036t0033 a0001c0049t0036 a0001c0060t0041 a0002c0030t0034 a0002c0041t0007 a0002c0043t0035 a0003c0047t0038 a0005c0058t0012 a0005c0065t0037 a0007c0006t0012 a0012c0015t0017 a0015c0074t0042 a0020c0063t0007 a0031c0069t0069 a0034c0052t0032	a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0011t0039g0061 others(18): Show a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0011t0039g0061 a0001c0014t0018g0060 a0001c0014t0018g0062 a0001c0036t0033g0116 a0001c0049t0036g0109 a0001c0060t0041g0080 a0002c0030t0034g0083 a0002c0041t0007g0108 a0002c0043t0035g0079 a0003c0047t0038g0082 a0005c0058t0012g0063 a0005c0065t0037g0065 a0007c0006t0012g0115 a0012c0015t0017g0059 a0012c0015t0017g0066 a0015c0074t0042g0081 a0020c0063t0007g0106 a0031c0069t0069g0064 a0034c0052t0032g0107	21	37	0.5676	27	c.-19 others(38): Show c.-1910_-1909insGCTGCTGCTGCTGCTGCTGCTGCTGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding		1574		chr7	TogoVar
SDK1_chr7_3296252_4274000	3403855	A A	ATATTATA others(20): Show ATATTATATATATAATATATATATATTG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0030 a0030	a0030c0086 a0030c0086	a0030c0086t0046 a0030c0086t0046	a0030c0086t0046g0012 a0030c0086t0046g0012	1	110	0.0091	27	c.298 others(48): Show c.298+101974_298+101975insTATATATATAATATATATATATTG TAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4263723	G G	GGGGAGGC others(20): Show GGGGAGGCCACGTAGACCTCTCCTGAGT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0047 a0003c0047	a0003c0047t0038 a0003c0047t0038	a0003c0047t0038g0082 a0003c0047t0038g0082	1	46	0.0217	27	c.638 others(46): Show c.6382-1401_6382-1400insGGGAGGCCACGTAGACCTCTCCTGAG T	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	4263921	G G	GGGGAGGC others(20): Show GGGGAGGCCACGTAGACCTCTCCTGAGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG00738.hp1 others(2): Show HG00558.hp2 HG00639.hp1 HG00738.hp1 HG01175.hp2 HG03209.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0010 a0001c0048 a0002c0054 others(2): Show a0001c0010 a0001c0048 a0002c0054 a0003c0001 a0003c0033	a0001c0010t0002 a0001c0048t0001 a0002c0054t0002 others(2): Show a0001c0010t0002 a0001c0048t0001 a0002c0054t0002 a0003c0001t0063 a0003c0033t0002	a0001c0010t0002g0085 a0001c0048t0001g0029 a0002c0054t0002g0101 others(2): Show a0001c0010t0002g0085 a0001c0048t0001g0029 a0002c0054t0002g0101 a0003c0001t0063g0033 a0003c0033t0002g0103	5	89	0.0562	27	c.638 others(46): Show c.6382-1203_6382-1202insGGGAGGCCACGTAGACCTCTCCTGAG T	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	4264207	G G	GGGGAGGC others(20): Show GGGGAGGCCACGTAGACCTCTCCTGAGT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0032 a0032	a0032c0075 a0032c0075	a0032c0075t0008 a0032c0075t0008	a0032c0075t0008g0015 a0032c0075t0008g0015	1	115	0.0087	27	c.638 others(44): Show c.6382-914_6382-913insAGGCCACGTAGACCTCTCCTGAGTGGG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4264207	G G	GGGGAGGC others(20): Show GGGGAGGCCGCGTAGACCTCTCCTGAGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0018 a0018	a0018c0024 a0018c0024	a0018c0024t0061 a0018c0024t0061	a0018c0024t0061g0013 a0018c0024t0061g0013	1	115	0.0087	27	c.638 others(44): Show c.6382-914_6382-913insAGGCCGCGTAGACCTCTCCTGAGTGGG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0051 a0001c0003t0051	a0001c0003t0051g0047 a0001c0003t0051g0047	1	52	0.0192	27	c.559 others(46): Show c.5594-2538_5594-2537insAAAAATATATATATATATATATATAT A	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar

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