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
SCGB1A1_chr11_62414033_62428195	62415764	G G	GTTTATTT others(17): Show GTTTATTTATTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01928.hp1 HG02129.hp1 others(13): Show HG00408.hp2 HG01928.hp1 HG02129.hp1 HG03688.hp1 HG03704.hp2 HG04199.hp2 NA18948.hp2 NA18960.hp2 NA18969.hp2 NA18980.hp1 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA19056.hp1 NA19079.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0002g0002	16	448	0.0357	24	c.-33 others(35): Show c.-3332_-3331insTTTATTTATTTATTTATTTATTTA	SCGB1A1	ENSG00000149021.7	transcript	ENST00000278282.3	protein_coding		3268		chr11	TogoVar
SCGB1A1_chr11_62414033_62428195	62415764	G G	GTTTGTTT others(17): Show GTTTGTTTGTTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	448	0.0022	24	c.-33 others(35): Show c.-3332_-3331insTTTGTTTGTTTATTTATTTATTTA	SCGB1A1	ENSG00000149021.7	transcript	ENST00000278282.3	protein_coding		3268		chr11	TogoVar
SCGB1C1_chr11_188078_199575	196571	G G	GGGGACAT others(17): Show GGGGACATGGGGGGGACCTTGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02809.hp2 HG03098.hp1 others(1): Show HG02109.hp1 HG02809.hp2 HG03098.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	4	354	0.0113	24	c.21 others(35): Show c.2121_*2122insGGGACATGGGGGGGACCTTGGTGA	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1997		chr11	TogoVar
SCGB1C2_chr17_132569_144067	140734	G G	GGGGACAT others(17): Show GGGGACATGGGGGGGACCTTGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	402	0.0025	24	c.17 others(35): Show c.1792_*1793insGGGACATGGGGGGGACCTTGGTGA	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1668		chr17	TogoVar
SCGB1C2_chr17_132569_144067	140989	A A	AGGGGACC others(17): Show AGGGGACCTGGTGAGGGGACATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0007 a0003c0008t0001g0007	1	402	0.0025	24	c.20 others(35): Show c.2047_*2048insGGGGACCTGGTGAGGGGACATGGG	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1923		chr17	TogoVar
SCGB1D1_chr11_62185216_62198539	62196439	A A	AATTATTA others(17): Show AATTATTATTATTATTATTATTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02273.hp1 HG03831.hp2 others(1): Show HG02040.hp1 HG02273.hp1 HG03831.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004	4	424	0.0094	24	c.30 others(35): Show c.3011_*3012insATTATTATTATTATTATTATTATT	SCGB1D1	ENSG00000168515.3	transcript	ENST00000306238.3	protein_coding		2901		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277883	C C	CCCCTCCC others(17): Show CCCCTCCCCCTCCCCCTCCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02976.hp2 HG02723.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	390	0.0051	24	c.48 others(35): Show c.4888_*4889insCCCTCCCCCTCCCCCTCCCCCTCT	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4724		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277909	C C	CCTCTCGC others(17): Show CCTCTCGCTCTCCGTCTCCCTCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03209.hp1 HG03098.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	390	0.0051	24	c.49 others(35): Show c.4914_*4915insCTCTCGCTCTCCGTCTCCCTCTCG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4750		chr11	TogoVar
SCGB2B2_chr19_34585644_34682159	34608660	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01106.hp1 HG01168.hp1 others(32): Show HG00408.hp2 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01943.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02165.hp1 HG02273.hp2 HG02486.hp1 HG02647.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03491.hp1 HG04115.hp2 NA18949.hp1 NA18953.hp1 NA18960.hp1 NA18969.hp2 NA18970.hp1 NA18974.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA19001.hp2 NA19065.hp2 NA19068.hp1 NA19079.hp2 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(19): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0037 a0001c0001t0044 a0001c0001t0071 a0001c0001t0098 a0001c0001t0110 a0001c0001t0118 a0005c0004t0078	a0001c0001t0002g0237 a0001c0001t0002g0254 a0001c0001t0002g0259 others(32): Show a0001c0001t0002g0237 a0001c0001t0002g0254 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0003g0270 a0001c0001t0003g0276 a0001c0001t0003g0282 a0001c0001t0003g0285 a0001c0001t0007g0134 a0001c0001t0008g0111 a0001c0001t0008g0140 a0001c0001t0012g0157 a0001c0001t0013g0102 a0001c0001t0013g0116 a0001c0001t0014g0308 a0001c0001t0014g0309 a0001c0001t0015g0158 a0001c0001t0016g0113 a0001c0001t0018g0243 a0001c0001t0020g0149 a0001c0001t0020g0151 a0001c0001t0026g0145 a0001c0001t0026g0147 a0001c0001t0026g0197 a0001c0001t0027g0105 a0001c0001t0028g0229 a0001c0001t0028g0252 a0001c0001t0033g0357 a0001c0001t0037g0168 a0001c0001t0044g0314 a0001c0001t0071g0096 a0001c0001t0098g0264 a0001c0001t0110g0303 a0001c0001t0118g0327 a0005c0004t0078g0109	35	370	0.0946	24	c.-20 others(47): Show c.-2031-12090_-2031-12067dupATATATATATATATATATATAT AT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34608684	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04184.hp1 NA21309.hp2 HG02735.hp2 HG04184.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0085 a0001c0001t0024 a0001c0001t0085	a0001c0001t0024g0344 a0001c0001t0024g0345 a0001c0001t0085g0176 a0001c0001t0024g0344 a0001c0001t0024g0345 a0001c0001t0085g0176	3	370	0.0081	24	c.-20 others(47): Show c.-2031-12091_-2031-12090insGTATATATATATATATATATAT AT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34669714	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG01123.hp1 others(42): Show HG00558.hp1 HG00609.hp1 HG01123.hp1 HG01255.hp2 HG01358.hp1 HG01496.hp1 HG01884.hp2 HG01943.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02895.hp2 HG02896.hp2 HG03098.hp2 HG03225.hp1 HG03491.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 NA18943.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18964.hp2 NA18969.hp1 NA18973.hp2 NA18974.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19072.hp1 NA19079.hp1 NA19085.hp2 NA19089.hp2 NA19090.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0004 a0001c0001 a0002c0002 a0005c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0019 a0001c0001t0025 a0001c0001t0035 a0001c0001t0041 a0001c0001t0045 a0001c0001t0059 a0001c0001t0080 a0001c0001t0083 a0001c0001t0101 a0001c0001t0103 a0001c0001t0105 a0001c0001t0108 a0002c0002t0004 a0005c0004t0078	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(41): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0300 a0001c0001t0005g0002 a0001c0001t0005g0020 a0001c0001t0005g0032 a0001c0001t0006g0094 a0001c0001t0006g0107 a0001c0001t0007g0118 a0001c0001t0008g0111 a0001c0001t0009g0121 a0001c0001t0010g0031 a0001c0001t0011g0108 a0001c0001t0011g0120 a0001c0001t0012g0119 a0001c0001t0013g0115 a0001c0001t0013g0116 a0001c0001t0016g0110 a0001c0001t0016g0113 a0001c0001t0019g0023 a0001c0001t0019g0030 a0001c0001t0025g0022 a0001c0001t0025g0024 a0001c0001t0035g0025 a0001c0001t0041g0295 a0001c0001t0041g0299 a0001c0001t0045g0317 a0001c0001t0059g0021 a0001c0001t0080g0117 a0001c0001t0083g0112 a0001c0001t0101g0265 a0001c0001t0103g0301 a0001c0001t0105g0296 a0001c0001t0108g0290 a0002c0002t0004g0114 a0005c0004t0078g0109	45	370	0.1216	24	c.-20 others(45): Show c.-2032+5915_-2032+5916insGTGTGTGTGTGTGTGTGTGTGTGT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGN_chr6_25647215_25706783	25657657	A A	ATATATAT others(17): Show ATATATATATAATATATATATTACG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0335 a0001c0001t0002g0335	1	368	0.0027	24	c.154 others(41): Show c.154-3893_154-3870dupATATATATAATATATATATTACGT	SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCHIP1_chr3_159268244_159902359	159668376	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0034 a0002c0003t0001g0034	1	100	0.0100	24	c.64- others(41): Show c.64-96047_64-96046insAAAAAAAAAAAAAAAAAAAAAAAA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159704417	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19043.hp2 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0049 a0001c0001t0001g0027 a0001c0001t0001g0049	2	100	0.0200	24	c.64- others(41): Show c.64-60022_64-59999dupAAAAAAAAAAAAAAAAAAAAAAAA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159815937	C C	CTATTTAT others(17): Show CTATTTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	100	0.0100	24	c.760 others(43): Show c.760-50220_760-50197dupATTTATTTATTTATTTATTTATTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIMP_chr17_5203920_5239860	5227292	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0109 a0001c0001t0020g0109	1	386	0.0026	24	c.22- others(39): Show c.22-3860_22-3837dupGTGTGTGTGTGTGTGTGTGTGTGT	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0273 a0002c0014t0273	a0002c0014t0273g0058 a0002c0014t0273g0058	1	372	0.0027	24	c.354 others(39): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTTT	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(17): Show ATATATATATATATATATTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0236 a0001c0001t0236	a0001c0001t0236g0109 a0001c0001t0236g0109	1	372	0.0027	24	c.48 others(35): Show c.4858_*4859insATATATATATATATATTTTTTTTT	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(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp1 others(25): Show HG00408.hp1 HG00423.hp1 HG00544.hp1 HG01106.hp2 HG01243.hp2 HG01981.hp1 HG02080.hp2 HG02523.hp2 HG02630.hp1 HG03471.hp1 HG03490.hp1 HG03831.hp1 HG03942.hp2 HG04199.hp2 NA18747.hp1 NA18945.hp2 NA18950.hp2 NA18977.hp2 NA18985.hp2 NA18995.hp2 NA18997.hp2 NA19003.hp1 NA19012.hp1 NA19063.hp2 NA19065.hp1 NA19086.hp2 NA19087.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0008 a0004c0013 others(1): Show a0001c0001 a0001c0008 a0004c0013 a0007c0014	a0001c0001t0001 a0001c0008t0001 a0004c0013t0001 others(1): Show a0001c0001t0001 a0001c0008t0001 a0004c0013t0001 a0007c0014t0001	a0001c0001t0001g0003 a0001c0001t0001g0191 a0001c0001t0001g0194 others(24): Show a0001c0001t0001g0003 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0008t0001g0214 a0004c0013t0001g0211 a0007c0014t0001g0123	28	288	0.0972	24	c.687 others(41): Show c.687-4573_687-4572insAAAAAAAAAAAAAAAAAAAAAAAA	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	9/20			chr4	TogoVar
SCMH1_chr1_41022202_41247306	41087937	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA19063.hp1 NA19083.hp2 NA18941.hp2 NA19063.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0012 a0001c0001t0001g0238 a0001c0001t0006g0168 a0001c0001t0001g0012 a0001c0001t0001g0238 a0001c0001t0006g0168	3	304	0.0099	24	c.746 others(43): Show c.746-12510_746-12487dupACACACACACACACACACACACAC	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	8/15			chr1	TogoVar
SCMH1_chr1_41022202_41247306	41244447	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19084.hp1 NA19003.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0257 a0001c0001t0005g0269 a0001c0001t0005g0257 a0001c0001t0005g0269	2	304	0.0066	24	c.-25 others(35): Show c.-2507_-2506insAAAAAAAAAAAAAAAAAAAAAAAA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding		2142		chr1	TogoVar
SCML4_chr6_107697154_107829313	107731309	T T	TAAACTGG others(17): Show TAAACTGGCATTTTACCTGGATTCA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	250	0.0040	24	c.683 others(43): Show c.683-10340_683-10317dupTGAATCCAGGTAAAATGCCAGTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	5/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107751572	A A	ATCTTTCT others(17): Show ATCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18994.hp2 NA19062.hp2 NA18944.hp1 NA18994.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0201 a0001c0001t0004g0204 a0001c0001t0006g0053 a0001c0001t0004g0201 a0001c0001t0004g0204 a0001c0001t0006g0053	3	250	0.0120	24	c.157 others(41): Show c.157-1783_157-1760dupAAGAAAGAAAGAAAGAAAGAAAGA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	2/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107759332	A A	AATACATA others(17): Show AATACATACATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0007 a0002c0007t0007	a0002c0007t0007g0040 a0002c0007t0007g0040	1	250	0.0040	24	c.157 others(41): Show c.157-9543_157-9520dupGTATGTATGTATGTATGTATGTAT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	2/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107802689	C C	CTCTCCCT others(17): Show CTCTCCCTCTCCCTCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0075 a0001c0001t0019g0075	1	250	0.0040	24	c.-60 others(43): Show c.-60+21436_-60+21437insAGAGGGAGAGGAGGGAGAGGGAGA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38736963	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0344 a0001c0008t0001g0344	1	372	0.0027	24	c.228 others(43): Show c.2280+2528_2280+2551dupAAAAAAAAAAAAAAAAAAAAAAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38737798	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01192.hp1 others(23): Show HG00741.hp2 HG01069.hp1 HG01192.hp1 HG01243.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG02257.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA19043.hp1 NA21309.hp2	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0018	a0001c0003 a0001c0005 a0001c0007 others(7): Show a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0018 a0002c0001 a0002c0012 a0002c0014 a0010c0026 a0018c0051	a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 others(9): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0005t0002 a0001c0007t0001 a0001c0008t0001 a0001c0018t0003 a0002c0001t0001 a0002c0012t0001 a0002c0014t0001 a0010c0026t0001 a0018c0051t0001	a0001c0003t0001g0025 a0001c0003t0001g0077 a0001c0003t0001g0078 others(23): Show a0001c0003t0001g0025 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0299 a0001c0003t0002g0080 a0001c0003t0004g0120 a0001c0005t0002g0013 a0001c0005t0002g0138 a0001c0005t0002g0139 a0001c0005t0002g0140 a0001c0005t0002g0155 a0001c0005t0002g0158 a0001c0007t0001g0049 a0001c0007t0001g0157 a0001c0008t0001g0114 a0001c0008t0001g0280 a0001c0008t0001g0281 a0001c0018t0003g0005 a0002c0001t0001g0195 a0002c0001t0001g0238 a0002c0012t0001g0083 a0002c0012t0001g0127 a0002c0014t0001g0106 a0002c0014t0001g0108 a0010c0026t0001g0109 a0018c0051t0001g0093	26	372	0.0699	24	c.228 others(43): Show c.2280+1693_2280+1716dupAAGAAAGAAAGAAAGAAAGAAAGA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38746100	T T	TATATATA others(17): Show TATATATATATATATATATATCTAG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02897.hp1 NA18982.hp2 HG01255.hp1 HG02897.hp1 NA18982.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0002 a0001c0007t0001 a0001c0003t0002 a0001c0007t0001	a0001c0003t0002g0102 a0001c0003t0002g0311 a0001c0007t0001g0012 a0001c0003t0002g0102 a0001c0003t0002g0311 a0001c0007t0001g0012	3	372	0.0081	24	c.186 others(43): Show c.1868-3572_1868-3571insCTAGATATATATATATATATATAT	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38929131	G G	GTGCGCGC others(17): Show GTGCGCGCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0309 a0001c0006t0003g0309	1	314	0.0032	24	c.489 others(41): Show c.489-2201_489-2200insTGTGTGTGTGTGTGCGCGCGCGCA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38945606	C C	CTGCAGGT others(17): Show CTGCAGGTGCATCTATCTTCTGACT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	314	0.0032	24	c.387 others(38): Show c.387-118_387-95dupAGTCAGAAGATAGATGCACCTGCA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	6/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38950064	C C	CCCACCCC others(17): Show CCCACCCCCCCCCCACCCCCCCCCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0293 a0001c0006t0006g0293	1	314	0.0032	24	c.267 others(37): Show c.267+31_267+32insTGGGGGGGGGTGGGGGGGGGGTGG	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	5/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38950067	C C	CACCCCCC others(17): Show CACCCCCCCCCCACCCCCCCCCCCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0298 a0001c0006t0003g0298	1	314	0.0032	24	c.267 others(37): Show c.267+28_267+29insTGGGGGGGGGGGTGGGGGGGGGGT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	5/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38995797	T T	TTGTCTAT others(17): Show TTGTCTATCTATCTATCTGTCTGTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03195.hp2 HG02622.hp2 HG03195.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0242 a0001c0005t0001g0253 a0001c0005t0001g0242 a0001c0005t0001g0253	2	314	0.0064	24	c.-27 others(45): Show c.-279-35375_-279-35374insGACAGACAGATAGATAGATAGACA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38995797	T T	TTGTCTAT others(17): Show TTGTCTATCTATCTGTCTGTCTGTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0247 a0001c0007t0010g0247	1	314	0.0032	24	c.-27 others(45): Show c.-279-35375_-279-35374insGACAGACAGACAGATAGATAGACA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38995799	G G	GTCTATCT others(17): Show GTCTATCTATCTATCTGTCTGTCTA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0197 a0001c0025t0001g0197	1	314	0.0032	24	c.-27 others(45): Show c.-279-35377_-279-35376insTAGACAGACAGATAGATAGATAGA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38995799	G G	GTCTATCT others(17): Show GTCTATCTATCTGTCTGTCTATCTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02257.hp1 HG00639.hp2 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0204 a0001c0002t0002g0205	2	314	0.0064	24	c.-27 others(45): Show c.-279-35377_-279-35376insTAGATAGACAGACAGATAGATAGA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38995819	G G	GTCTATCT others(17): Show GTCTATCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG02109.hp1 others(10): Show HG00323.hp2 HG00642.hp2 HG02109.hp1 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03471.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp1 NA18965.hp2 NA19055.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0017 a0002c0003 a0001c0002 a0001c0017 a0002c0003	a0001c0002t0001 a0001c0002t0004 a0001c0017t0001 others(1): Show a0001c0002t0001 a0001c0002t0004 a0001c0017t0001 a0002c0003t0001	a0001c0002t0001g0148 a0001c0002t0001g0154 a0001c0002t0001g0166 others(10): Show a0001c0002t0001g0148 a0001c0002t0001g0154 a0001c0002t0001g0166 a0001c0002t0001g0181 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0191 a0001c0002t0004g0195 a0001c0017t0001g0263 a0002c0003t0001g0008 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0034	13	314	0.0414	24	c.-27 others(45): Show c.-279-35420_-279-35397dupTAGATAGATAGATAGATAGATAGA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38995819	G G	GTCTGTCT others(17): Show GTCTGTCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0312 a0001c0001t0003g0312	1	314	0.0032	24	c.-27 others(45): Show c.-279-35397_-279-35396insTAGATAGATAGATAGATAGACAGA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166050613	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02486.hp2 HG02602.hp1 others(2): Show HG00558.hp1 HG02486.hp2 HG02602.hp1 HG02896.hp1 HG03579.hp2	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0001 a0001c0003 a0005c0018 others(1): Show a0001c0001 a0001c0003 a0005c0018 a0009c0009	a0001c0001t0001 a0001c0003t0020 a0001c0003t0088 others(2): Show a0001c0001t0001 a0001c0003t0020 a0001c0003t0088 a0005c0018t0007 a0009c0009t0045	a0001c0001t0001g0195 a0001c0003t0020g0342 a0001c0003t0088g0312 others(2): Show a0001c0001t0001g0195 a0001c0003t0020g0342 a0001c0003t0088g0312 a0005c0018t0007g0165 a0009c0009t0045g0250	5	356	0.0140	24	c.964 others(41): Show c.964+1082_964+1105dupTATATATATATATATATATATATA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	9/28			chr2	TogoVar
SCN1A_chr2_165980813_166133020	166072789	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02257.hp2 HG02559.hp2 others(8): Show HG00140.hp1 HG02257.hp2 HG02559.hp2 HG02622.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0006 a0001c0001t0021 a0001c0001t0049 others(1): Show a0001c0001t0006 a0001c0001t0021 a0001c0001t0049 a0001c0011t0006	a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0286 others(8): Show a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0286 a0001c0001t0006g0292 a0001c0001t0006g0299 a0001c0001t0006g0331 a0001c0001t0021g0157 a0001c0001t0021g0158 a0001c0001t0021g0162 a0001c0001t0049g0291 a0001c0011t0006g0298	11	356	0.0309	24	c.264 others(39): Show c.264+545_264+568dupGGAAGGAAGGAAGGAAGGAAGGAA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	4/28			chr2	TogoVar
SCN1A_chr2_165980813_166133020	166118298	G G	GCTTCTTT others(17): Show GCTTCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0287 a0001c0001t0069g0287	1	356	0.0028	24	c.-14 others(43): Show c.-142+8625_-142+8626insAAAAAAAAAAAAAAAAAAAAGAAG	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291525	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03139.hp1 HG02109.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0101 a0001c0001t0002g0102	2	358	0.0056	24	c.-51 others(41): Show c.-51-4221_-51-4198dupCCTTCCTTCCTTCCTTCCTTCCTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291575	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	358	0.0028	24	c.-51 others(41): Show c.-51-4196_-51-4173dupCTCTCTCTCTCTCTCTCTCTCTCT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2B_chr11_118157806_118181639	118162086	C C	CAGAGAGA others(17): Show CAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02965.hp2 HG02055.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0034 a0001c0001t0010 a0001c0001t0034	a0001c0001t0010g0030 a0001c0001t0034g0070 a0001c0001t0010g0030 a0001c0001t0034g0070	2	450	0.0044	24	c.48 others(35): Show c.4800_*4801insCTCTCTCTCTCTCTCTCTCTCTCT	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding		719		chr11	TogoVar
SCN2B_chr11_118157806_118181639	118178899	A A	ATTATTAT others(17): Show ATTATTATTATTATTATTATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0234 a0001c0001t0024g0234	1	450	0.0022	24	c.-24 others(35): Show c.-2469_-2468insAAAAAATAATAATAATAATAATAA	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding		2261		chr11	TogoVar
SCN4A_chr17_63933554_63977918	63939585	T T	TCTGGGCA others(17): Show TCTGGGCACAGCCTCTGCTCTCCAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG01099.hp2 HG01109.hp1 others(64): Show HG00639.hp1 HG01099.hp2 HG01109.hp1 HG01346.hp2 HG01891.hp1 HG01934.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0008 a0009 a0011 a0012 a0015 a0016 a0017 a0018	a0001c0005 a0001c0006 a0001c0010 others(30): Show a0001c0005 a0001c0006 a0001c0010 a0001c0013 a0001c0014 a0001c0017 a0001c0021 a0001c0022 a0001c0025 a0001c0026 a0001c0035 a0001c0038 a0001c0052 a0001c0063 a0001c0068 a0001c0070 a0001c0071 a0001c0072 a0001c0073 a0001c0074 a0002c0001 a0003c0003 a0003c0043 a0004c0045 a0004c0047 a0008c0081 a0009c0082 a0011c0083 a0012c0032 a0015c0053 a0016c0061 a0017c0031 a0018c0079	a0001c0005t0003 a0001c0006t0003 a0001c0006t0007 others(35): Show a0001c0005t0003 a0001c0006t0003 a0001c0006t0007 a0001c0006t0018 a0001c0006t0029 a0001c0010t0005 a0001c0013t0003 a0001c0013t0007 a0001c0014t0008 a0001c0017t0008 a0001c0017t0009 a0001c0021t0009 a0001c0022t0005 a0001c0025t0008 a0001c0026t0003 a0001c0035t0018 a0001c0038t0008 a0001c0052t0024 a0001c0063t0014 a0001c0068t0031 a0001c0070t0007 a0001c0071t0005 a0001c0072t0014 a0001c0073t0028 a0001c0074t0014 a0002c0001t0006 a0003c0003t0006 a0003c0043t0006 a0004c0045t0009 a0004c0047t0003 a0008c0081t0003 a0009c0082t0016 a0011c0083t0016 a0012c0032t0005 a0015c0053t0003 a0016c0061t0003 a0017c0031t0027 a0018c0079t0009	a0001c0005t0003g0010 a0001c0005t0003g0041 a0001c0005t0003g0118 others(54): Show a0001c0005t0003g0010 a0001c0005t0003g0041 a0001c0005t0003g0118 a0001c0005t0003g0129 a0001c0005t0003g0131 a0001c0005t0003g0220 a0001c0005t0003g0221 a0001c0005t0003g0224 a0001c0006t0003g0106 a0001c0006t0003g0144 a0001c0006t0003g0145 a0001c0006t0007g0022 a0001c0006t0007g0023 a0001c0006t0018g0138 a0001c0006t0029g0226 a0001c0010t0005g0037 a0001c0010t0005g0039 a0001c0010t0005g0256 a0001c0013t0003g0011 a0001c0013t0007g0260 a0001c0014t0008g0112 a0001c0017t0008g0115 a0001c0017t0009g0216 a0001c0021t0009g0107 a0001c0021t0009g0108 a0001c0022t0005g0048 a0001c0022t0005g0257 a0001c0025t0008g0259 a0001c0025t0008g0261 a0001c0026t0003g0033 a0001c0035t0018g0117 a0001c0038t0008g0215 a0001c0052t0024g0139 a0001c0063t0014g0128 a0001c0068t0031g0258 a0001c0070t0007g0142 a0001c0071t0005g0141 a0001c0072t0014g0248 a0001c0073t0028g0114 a0001c0074t0014g0143 a0002c0001t0006g0126 a0003c0003t0006g0031 a0003c0003t0006g0121 a0003c0003t0006g0122 a0003c0003t0006g0136 a0003c0003t0006g0137 a0003c0043t0006g0123 a0004c0045t0009g0120 a0004c0047t0003g0119 a0008c0081t0003g0279 a0009c0082t0016g0278 a0011c0083t0016g0281 a0012c0032t0005g0045 a0015c0053t0003g0134 a0016c0061t0003g0222 a0017c0031t0027g0044 a0018c0079t0009g0280	67	356	0.1882	24	c.11 others(35): Show c.1185_*1186insCTGGAGAGCAGAGGCTGTGCCCAG	SCN4A	ENSG00000007314.12	transcript	ENST00000435607.3	protein_coding	24/24	1185		chr17	TogoVar
SCN5A_chr3_38543062_38654687	38555159	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03041.hp2 HG03654.hp2 others(1): Show HG00738.hp1 HG03041.hp2 HG03654.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0014 a0001c0001 a0001c0004 a0001c0014	a0001c0001t0004 a0001c0004t0001 a0001c0014t0004 a0001c0001t0004 a0001c0004t0001 a0001c0014t0004	a0001c0001t0004g0144 a0001c0001t0004g0326 a0001c0004t0001g0082 others(1): Show a0001c0001t0004g0144 a0001c0001t0004g0326 a0001c0004t0001g0082 a0001c0014t0004g0275	4	340	0.0118	24	c.454 others(41): Show c.4542+473_4542+496dupGTGTGTGTGTGTGTGTGTGTGTGT	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38585662	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00738.hp2 others(60): Show HG00639.hp1 HG00639.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01361.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02723.hp2 HG02809.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03834.hp1 HG03942.hp2 NA18944.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18980.hp2 NA18982.hp1 NA18986.hp1 NA18990.hp1 NA19056.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0013 a0015 a0021	a0001c0001 a0001c0002 a0001c0003 others(26): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0012 a0001c0019 a0001c0039 a0001c0043 a0001c0044 a0001c0054 a0001c0055 a0001c0072 a0002c0005 a0002c0006 a0002c0015 a0003c0028 a0003c0077 a0003c0078 a0004c0011 a0004c0045 a0007c0017 a0007c0073 a0008c0021 a0009c0041 a0009c0042 a0013c0047 a0015c0076 a0021c0049	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(29): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 a0001c0002t0001 a0001c0003t0004 a0001c0004t0001 a0001c0008t0002 a0001c0012t0001 a0001c0019t0002 a0001c0039t0001 a0001c0043t0004 a0001c0044t0001 a0001c0054t0001 a0001c0055t0020 a0001c0072t0001 a0002c0005t0001 a0002c0006t0004 a0002c0015t0001 a0003c0028t0003 a0003c0077t0001 a0003c0078t0001 a0004c0011t0001 a0004c0045t0002 a0007c0017t0002 a0007c0073t0002 a0008c0021t0002 a0009c0041t0003 a0009c0042t0002 a0013c0047t0001 a0015c0076t0001 a0021c0049t0003	a0001c0001t0002g0004 a0001c0001t0002g0024 a0001c0001t0002g0106 others(59): Show a0001c0001t0002g0004 a0001c0001t0002g0024 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0003g0178 a0001c0001t0003g0273 a0001c0001t0003g0281 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0292 a0001c0001t0004g0314 a0001c0001t0019g0173 a0001c0002t0001g0161 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0242 a0001c0002t0001g0293 a0001c0003t0004g0090 a0001c0003t0004g0123 a0001c0003t0004g0124 a0001c0004t0001g0068 a0001c0004t0001g0097 a0001c0004t0001g0110 a0001c0004t0001g0114 a0001c0004t0001g0138 a0001c0008t0002g0009 a0001c0008t0002g0022 a0001c0008t0002g0025 a0001c0008t0002g0278 a0001c0008t0002g0279 a0001c0012t0001g0019 a0001c0012t0001g0280 a0001c0019t0002g0021 a0001c0019t0002g0042 a0001c0039t0001g0064 a0001c0043t0004g0189 a0001c0044t0001g0177 a0001c0054t0001g0160 a0001c0055t0020g0034 a0001c0072t0001g0148 a0002c0005t0001g0249 a0002c0005t0001g0250 a0002c0006t0004g0285 a0002c0006t0004g0334 a0002c0015t0001g0012 a0003c0028t0003g0218 a0003c0077t0001g0054 a0003c0078t0001g0291 a0004c0011t0001g0026 a0004c0011t0001g0027 a0004c0011t0001g0028 a0004c0011t0001g0030 a0004c0045t0002g0029 a0007c0017t0002g0043 a0007c0017t0002g0217 a0007c0073t0002g0031 a0008c0021t0002g0195 a0009c0041t0003g0055 a0009c0042t0002g0056 a0013c0047t0001g0045 a0015c0076t0001g0018 a0021c0049t0003g0261	63	340	0.1853	24	c.278 others(39): Show c.2787+28_2787+29insACACACACACACACACACACACAC	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	16/27			chr3	TogoVar
SCN7A_chr2_166398573_166499249	166413981	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp2 HG01071.hp1 others(11): Show HG00323.hp1 HG00733.hp2 HG01071.hp1 HG01106.hp2 HG02809.hp2 HG03130.hp1 HG03225.hp2 HG03471.hp1 HG03704.hp1 NA18747.hp2 NA19005.hp2 NA19011.hp1 NA19060.hp1 NA19090.hp2	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0026	a0001c0001 a0003c0003 a0008c0010 others(1): Show a0001c0001 a0003c0003 a0008c0010 a0026c0035	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0034 a0003c0003t0001 a0008c0010t0001 a0026c0035t0008	a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0315 others(11): Show a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0315 a0001c0001t0001g0329 a0001c0001t0001g0334 a0001c0001t0003g0348 a0001c0001t0004g0045 a0001c0001t0004g0047 a0001c0001t0012g0322 a0001c0001t0034g0338 a0003c0003t0001g0126 a0003c0003t0001g0144 a0008c0010t0001g0081 a0026c0035t0008g0372	14	394	0.0355	24	c.341 others(41): Show c.3415-861_3415-860insTATATATATATATATATATATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166413981	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	394	0.0025	24	c.341 others(41): Show c.3415-861_3415-860insTATATATATATATATATATATACA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar

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