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
SCG5_chr15_32636710_32702092	32657199	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19010.hp1 NA18998.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	373	0.0054	30	c.226 others(49): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp1 HG02647.hp2 others(4): Show HG02280.hp1 HG02615.hp1 HG02647.hp2 HG02717.hp1 HG02922.hp1 HG03516.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0096 a0001c0001t0001g0222 a0001c0001t0001g0232 others(4): Show a0001c0001t0001g0096 a0001c0001t0001g0222 a0001c0001t0001g0232 a0001c0001t0001g0279 a0001c0001t0001g0364 a0001c0001t0001g0370 a0001c0001t0007g0036	7	54	0.1296	30	c.226 others(49): Show c.226+13394_226+13395insATATATATATATATATATATATATAT GTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C2_chr17_132569_144067	140948	T T	TGGTGAGG others(23): Show TGGTGAGGGGACATGGTGAGGGGAGCATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01070.hp2 others(41): Show HG00639.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01516.hp2 HG01884.hp1 HG02027.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03139.hp2 HG03195.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp2 HG03834.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18940.hp2 NA18961.hp2 NA18982.hp2 NA19030.hp1 NA19030.hp2 NA19066.hp1 NA19068.hp2 NA19072.hp2 NA19079.hp2 NA19090.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0013 a0002c0002t0001g0027 a0002c0002t0001g0003 a0002c0002t0001g0013 a0002c0002t0001g0027	44	384	0.1146	30	c.20 others(41): Show c.2006_*2007insGGTGAGGGGACATGGTGAGGGGAGCATGGG	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1882		chr17	TogoVar
SCGB2A1_chr11_62203673_62218943	62213089	C C	CATATATA others(23): Show CATATATACACATATATACACATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	393	0.0025	30	c.244 others(45): Show c.244-636_244-635insTATATACACATATATACACATATATATATA	SCGB2A1	ENSG00000124939.6	transcript	ENST00000244930.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB2A1_chr11_62203673_62218943	62213106	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	48	0.0208	30	c.244 others(45): Show c.244-619_244-618insATATATATATATATATATATATATATTTTT	SCGB2A1	ENSG00000124939.6	transcript	ENST00000244930.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB2B2_chr19_34585644_34682159	34608660	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18941.hp2 NA18939.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0100 a0001c0001t0027 a0001c0001t0100	a0001c0001t0027g0105 a0001c0001t0100g0254 a0001c0001t0027g0105 a0001c0001t0100g0254	2	23	0.0870	30	c.-20 others(53): Show c.-2031-12067_-2031-12066insATATATATATATATATATATAT ATATATAT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34608684	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG04199.hp2 HG03669.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0123 a0001c0001t0050 a0001c0001t0123	a0001c0001t0050g0342 a0001c0001t0123g0328 a0001c0001t0050g0342 a0001c0001t0123g0328	2	356	0.0056	30	c.-20 others(53): Show c.-2031-12091_-2031-12090insGTATATATATATATATATATAT ATATATAT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34669714	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp1 HG00741.hp2 others(32): Show HG00140.hp2 HG00621.hp1 HG00741.hp2 HG01099.hp1 HG01099.hp2 HG01891.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03540.hp1 HG03579.hp1 HG03927.hp1 NA18522.hp1 NA18956.hp2 NA18961.hp2 NA18975.hp1 NA19030.hp1 NA19043.hp1 NA19077.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(15): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0033 a0001c0001t0066 a0001c0001t0081 a0001c0001t0082 a0001c0001t0085 a0001c0001t0086 a0001c0001t0088 a0001c0001t0089 a0002c0002t0004	a0001c0001t0001g0088 a0001c0001t0006g0176 a0001c0001t0007g0192 others(29): Show a0001c0001t0001g0088 a0001c0001t0006g0176 a0001c0001t0007g0192 a0001c0001t0009g0196 a0001c0001t0009g0206 a0001c0001t0011g0181 a0001c0001t0011g0194 a0001c0001t0011g0195 a0001c0001t0011g0198 a0001c0001t0012g0193 a0001c0001t0015g0175 a0001c0001t0015g0188 a0001c0001t0020g0182 a0001c0001t0020g0184 a0001c0001t0021g0183 a0001c0001t0033g0351 a0001c0001t0033g0352 a0001c0001t0033g0353 a0001c0001t0066g0087 a0001c0001t0081g0174 a0001c0001t0082g0185 a0001c0001t0085g0180 a0001c0001t0086g0186 a0001c0001t0088g0191 a0001c0001t0089g0179 a0002c0002t0004g0001 a0002c0002t0004g0006 a0002c0002t0004g0178 a0002c0002t0004g0187 a0002c0002t0004g0189 a0002c0002t0004g0190 a0002c0002t0004g0197	35	104	0.3365	30	c.-20 others(51): Show c.-2032+5915_-2032+5916insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCHIP1_chr3_159268244_159902359	159828399	A A	ATATATAC others(23): Show ATATATACGTATATATATACGTATATATACG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp1 HG02630.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0056 a0001c0001t0001g0003 a0001c0001t0001g0056	2	100	0.0200	30	c.760 others(49): Show c.760-37758_760-37757insCGTATATATATACGTATATATACGTA TATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIMP_chr17_5203920_5239860	5227631	T T	TGAAGGCT others(23): Show TGAAGGCTTGAGGAGGCACTAAGTTCATTCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0299 a0001c0003t0005g0299	1	384	0.0026	30	c.22- others(45): Show c.22-4176_22-4175insGGAATGAACTTAGTGCCTCCTCAAGCCTTC	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCIMP_chr17_5203920_5239860	5229875	C C	CTCCTCTC others(23): Show CTCCTCTCCTCTCCACTCCTCTCCTCTCCGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0156 a0001c0002t0007g0156	1	384	0.0026	30	c.21+ others(45): Show c.21+4830_21+4859dupCCGGAGAGGAGAGGAGTGGAGAGGAGAGGA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01496.hp2 HG02895.hp2 others(8): Show HG00408.hp1 HG01496.hp2 HG02895.hp2 HG03130.hp2 HG03669.hp1 HG03710.hp2 HG04184.hp2 NA18939.hp1 NA18975.hp1 NA18978.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 others(8): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0045 a0001c0001t0074 a0001c0001t0090 a0001c0001t0096 a0001c0001t0123 a0001c0001t0127 a0001c0001t0153 a0001c0001t0181	a0001c0001t0003g0054 a0001c0001t0006g0016 a0001c0001t0007g0051 others(8): Show a0001c0001t0003g0054 a0001c0001t0006g0016 a0001c0001t0007g0051 a0001c0001t0045g0053 a0001c0001t0074g0052 a0001c0001t0090g0015 a0001c0001t0096g0050 a0001c0001t0123g0057 a0001c0001t0127g0044 a0001c0001t0153g0018 a0001c0001t0181g0017	11	176	0.0625	30	c.354 others(45): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12632083	C C	CATTTTAT others(23): Show CATTTTATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 NA18970.hp2 HG01515.hp1 HG01517.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0073 a0001c0001t0005 a0001c0001t0073	a0001c0001t0005g0139 a0001c0001t0005g0158 a0001c0001t0073g0036 a0001c0001t0005g0139 a0001c0001t0005g0158 a0001c0001t0073g0036	3	76	0.0395	30	c.131 others(49): Show c.1319+2898_1319+2927dupTTTTATTTTATTTTATTTTATTTTAT TTTA	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCMH1_chr1_41022202_41247306	41162886	A A	ATCTTGCT others(23): Show ATCTTGCTCACCCTCCACTTGTCTGCGTACC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	302	0.0033	30	c.14- others(45): Show c.14-1484_14-1455dupGGTACGCAGACAAGTGGAGGGTGAGCAAGA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	2/15			chr1	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0011 a0002c0016t0011	a0002c0016t0011g0018 a0002c0016t0011g0018	1	174	0.0057	30	c.-59 others(47): Show c.-59-5837_-59-5836insATATATATTTTTTTTTTTTTTTTTTTTT TT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38737832	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG04199.hp1 NA18942.hp1 others(6): Show HG03688.hp1 HG04199.hp1 NA18942.hp1 NA18972.hp2 NA18974.hp1 NA18987.hp1 NA19043.hp2 NA19065.hp2 NA19087.hp2	a0004 a0005 a0004 a0005	a0004c0005 a0004c0020 a0005c0009 others(2): Show a0004c0005 a0004c0020 a0005c0009 a0005c0011 a0005c0013	a0004c0005t0001 a0004c0020t0001 a0004c0020t0002 others(3): Show a0004c0005t0001 a0004c0020t0001 a0004c0020t0002 a0005c0009t0002 a0005c0011t0001 a0005c0013t0001	a0004c0005t0001g0071 a0004c0005t0001g0075 a0004c0005t0001g0177 others(6): Show a0004c0005t0001g0071 a0004c0005t0001g0075 a0004c0005t0001g0177 a0004c0020t0001g0169 a0004c0020t0002g0173 a0005c0009t0002g0061 a0005c0011t0001g0047 a0005c0013t0001g0078 a0005c0013t0001g0081	9	285	0.0316	30	c.228 others(49): Show c.2280+1682_2280+1683insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38746063	G G	GTGTATAT others(23): Show GTGTATATATATATGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp2 HG03834.hp1 others(6): Show HG02165.hp1 HG02165.hp2 HG03834.hp1 NA18964.hp2 NA18975.hp1 NA18979.hp1 NA18991.hp1 NA19010.hp2 NA19058.hp1	a0002 a0022 a0002 a0022	a0002c0001 a0002c0023 a0022c0045 a0002c0001 a0002c0023 a0022c0045	a0002c0001t0001 a0002c0001t0002 a0002c0023t0001 others(1): Show a0002c0001t0001 a0002c0001t0002 a0002c0023t0001 a0022c0045t0001	a0002c0001t0001g0205 a0002c0001t0001g0209 a0002c0001t0001g0211 others(6): Show a0002c0001t0001g0205 a0002c0001t0001g0209 a0002c0001t0001g0211 a0002c0001t0001g0226 a0002c0001t0001g0236 a0002c0001t0001g0346 a0002c0001t0002g0208 a0002c0023t0001g0201 a0022c0045t0001g0073	9	183	0.0492	30	c.186 others(49): Show c.1868-3535_1868-3534insTATATATATACACACACATATATATA TACA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38746100	T T	TATATATA others(23): Show TATATATATATATATATATATATATATCTAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03453.hp2 HG02622.hp1 HG03453.hp2	a0001 a0010 a0001 a0010	a0001c0003 a0010c0026 a0001c0003 a0010c0026	a0001c0003t0002 a0010c0026t0001 a0001c0003t0002 a0010c0026t0001	a0001c0003t0002g0134 a0010c0026t0001g0111 a0001c0003t0002g0134 a0010c0026t0001g0111	2	111	0.0180	30	c.186 others(49): Show c.1868-3572_1868-3571insCTAGATATATATATATATATATATAT ATAT	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877394	T T	TATATATG others(23): Show TATATATGGTGTATATACTATATATATGGTA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18964.hp2 NA18945.hp1 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0168 a0001c0002t0001g0174 a0001c0002t0001g0168 a0001c0002t0001g0174	2	312	0.0064	30	c.339 others(49): Show c.3393+2526_3393+2555dupTACCATATATATAGTATATACACCAT ATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877456	T T	TATATATG others(23): Show TATATATGGTGTATATACTATATATATGGTA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0154	1	312	0.0032	30	c.339 others(49): Show c.3393+2464_3393+2493dupTACCATATATATAGTATATACACCAT ATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166050613	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02145.hp2 NA18747.hp1 HG02129.hp1 HG02145.hp2 NA18747.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0004 a0001c0004t0014 a0002c0002t0005 a0001c0001t0004 a0001c0004t0014 a0002c0002t0005	a0001c0001t0004g0282 a0001c0004t0014g0137 a0002c0002t0005g0152 a0001c0001t0004g0282 a0001c0004t0014g0137 a0002c0002t0005g0152	3	133	0.0226	30	c.964 others(47): Show c.964+1105_964+1106insTATATATATATATATATATATATATATA TA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	9/28			chr2	TogoVar
SCN1A_chr2_165980813_166133020	166050629	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02970.hp1 HG02622.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0337 a0001c0001t0019g0340 a0001c0001t0019g0337 a0001c0001t0019g0340	2	353	0.0057	30	c.964 others(47): Show c.964+1089_964+1090insCATATATATATATATATATATATATATA TA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	9/28			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291528	C C	CTTTCTTT others(23): Show CTTTCTTTTCTTTCTTTCTTTCTTTCTTCCT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	280	0.0036	30	c.-51 others(47): Show c.-51-4245_-51-4244insTTTCTTTTCTTTCTTTCTTTCTTTCTTC CT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291528	C C	CTTTTCTT others(23): Show CTTTTCTTTCTTTCTTTCTTTCTTTCTTCCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01255.hp1 HG01261.hp1 others(13): Show HG00423.hp1 HG01255.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01993.hp1 HG02040.hp2 HG03239.hp1 HG03669.hp2 HG03831.hp1 HG04115.hp1 NA18962.hp2 NA18984.hp1 NA18995.hp1 NA19011.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0002 a0001c0016t0002 a0001c0001t0002 a0001c0016t0002	a0001c0001t0002g0025 a0001c0001t0002g0113 a0001c0001t0002g0129 others(13): Show a0001c0001t0002g0025 a0001c0001t0002g0113 a0001c0001t0002g0129 a0001c0001t0002g0139 a0001c0001t0002g0161 a0001c0001t0002g0177 a0001c0001t0002g0182 a0001c0001t0002g0191 a0001c0001t0002g0204 a0001c0001t0002g0218 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0016t0002g0240	16	295	0.0542	30	c.-51 others(47): Show c.-51-4245_-51-4244insTTTTCTTTCTTTCTTTCTTTCTTTCTTC CT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCN3B_chr11_123624188_123659624	123625973	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0265 a0001c0001t0005g0265	1	368	0.0027	30	c.78 others(41): Show c.7825_*7826insGATCTCTCTCTCTCTCTCTCTCTCTCTCTC	SCN3B	ENSG00000166257.10	transcript	ENST00000299333.8	protein_coding		3214		chr11	TogoVar
SCN5A_chr3_38543062_38654687	38585662	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp2 HG01167.hp1 others(24): Show HG01074.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01256.hp1 HG02055.hp1 HG02055.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG03486.hp1 HG03688.hp2 NA18522.hp2 NA18906.hp1 NA18947.hp2 NA18967.hp2 NA18971.hp2 NA18984.hp1 NA18999.hp1 NA19030.hp1 NA19068.hp1 NA19068.hp2 NA19084.hp2 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0021	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0022 a0002c0005 a0002c0006 a0002c0009 a0002c0013 a0002c0015 a0002c0071 a0003c0028 a0005c0029 a0005c0030 a0021c0056	a0001c0001t0004 a0001c0002t0001 a0001c0003t0004 others(14): Show a0001c0001t0004 a0001c0002t0001 a0001c0003t0004 a0001c0004t0001 a0001c0022t0006 a0002c0005t0001 a0002c0006t0004 a0002c0009t0002 a0002c0009t0007 a0002c0013t0001 a0002c0015t0001 a0002c0071t0001 a0003c0028t0004 a0005c0029t0020 a0005c0029t0022 a0005c0030t0008 a0021c0056t0001	a0001c0001t0004g0154 a0001c0001t0004g0188 a0001c0002t0001g0263 others(24): Show a0001c0001t0004g0154 a0001c0001t0004g0188 a0001c0002t0001g0263 a0001c0003t0004g0107 a0001c0003t0004g0114 a0001c0003t0004g0115 a0001c0004t0001g0076 a0001c0004t0001g0118 a0001c0004t0001g0141 a0001c0022t0006g0302 a0002c0005t0001g0150 a0002c0005t0001g0327 a0002c0006t0004g0059 a0002c0006t0004g0232 a0002c0009t0002g0017 a0002c0009t0002g0018 a0002c0009t0007g0015 a0002c0009t0007g0035 a0002c0013t0001g0092 a0002c0015t0001g0126 a0002c0071t0001g0039 a0003c0028t0004g0045 a0005c0029t0020g0049 a0005c0029t0022g0050 a0005c0030t0008g0051 a0005c0030t0008g0216 a0021c0056t0001g0016	27	44	0.6136	30	c.278 others(45): Show c.2787+28_2787+29insACACACACACACACACACACACACACACAC	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	16/27			chr3	TogoVar
SCN7A_chr2_166398573_166499249	166413981	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18987.hp1 NA19065.hp2 HG03486.hp2 NA18987.hp1 NA19065.hp2	a0003 a0009 a0003 a0009	a0003c0003 a0009c0011 a0003c0003 a0009c0011	a0003c0003t0001 a0009c0011t0001 a0003c0003t0001 a0009c0011t0001	a0003c0003t0001g0139 a0009c0011t0001g0105 a0009c0011t0001g0118 a0003c0003t0001g0139 a0009c0011t0001g0105 a0009c0011t0001g0118	3	144	0.0208	30	c.341 others(47): Show c.3415-861_3415-860insTATATATATATATATATATATATATATA TA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166475080	G G	GTATATAT others(23): Show GTATATATATATATACGTATATATGTATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02818.hp2 NA18522.hp1 others(1): Show HG02257.hp2 HG02818.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0365 a0001c0001t0008g0366 a0001c0001t0008g0367 others(1): Show a0001c0001t0008g0365 a0001c0001t0008g0366 a0001c0001t0008g0367 a0001c0001t0008g0368	4	363	0.0110	30	c.235 others(45): Show c.235-737_235-736insTATATACATATATACGTATATATATATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	3/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166475080	G G	GTATATAT others(23): Show GTATATATATATATATATACGTATATATGTA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp1 HG03139.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0355 a0001c0001t0015g0356 a0001c0001t0015g0355 a0001c0001t0015g0356	2	361	0.0055	30	c.235 others(45): Show c.235-737_235-736insTACATATATACGTATATATATATATATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	3/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166475104	G G	GTATATAT others(23): Show GTATATATATATATACATATATACGTATATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03041.hp2 HG04115.hp2 HG01255.hp1 HG03041.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0294 a0001c0001t0001g0325 a0001c0001t0020g0361 a0001c0001t0001g0294 a0001c0001t0001g0325 a0001c0001t0020g0361	3	270	0.0111	30	c.235 others(45): Show c.235-761_235-760insTATATACGTATATATGTATATATATATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	3/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166475122	A A	ATATATAC others(23): Show ATATATACGTATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02074.hp2 HG02559.hp2 others(14): Show HG01258.hp2 HG02074.hp2 HG02559.hp2 HG02886.hp1 NA18964.hp2 NA18985.hp2 NA19000.hp2 NA19001.hp1 NA19056.hp2 NA19062.hp2 NA19063.hp1 NA19068.hp1 NA19083.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0028 a0001c0001 a0001c0009 a0001c0028	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0016 a0001c0009t0002 a0001c0028t0003	a0001c0001t0001g0290 a0001c0001t0001g0342 a0001c0001t0001g0354 others(14): Show a0001c0001t0001g0290 a0001c0001t0001g0342 a0001c0001t0001g0354 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0345 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0003g0353 a0001c0001t0003g0360 a0001c0001t0010g0359 a0001c0001t0016g0351 a0001c0001t0016g0352 a0001c0009t0002g0344 a0001c0028t0003g0343	17	332	0.0512	30	c.235 others(45): Show c.235-779_235-778insCGTATATATATATATATATATACGTATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	3/25			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166313008	T T	TTAAATAA others(23): Show TTAAATAATATAGTTATTATTTAATTTTCTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00597.hp2 others(108): Show HG00323.hp2 HG00544.hp2 HG00597.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01358.hp1 HG01496.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03942.hp2 HG04184.hp1 HG04228.hp2 NA18906.hp1 NA18939.hp2 NA18946.hp2 NA18948.hp1 NA18952.hp2 NA18953.hp1 NA18960.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18994.hp1 NA19000.hp2 NA19006.hp1 NA19009.hp1 NA19030.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19082.hp2 NA19086.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0012 a0015 a0019 a0021 a0023 a0024	a0001c0002 a0001c0003 a0001c0007 others(26): Show a0001c0002 a0001c0003 a0001c0007 a0001c0012 a0001c0017 a0001c0018 a0001c0026 a0001c0054 a0002c0009 a0002c0020 a0002c0036 a0003c0013 a0003c0052 a0004c0008 a0004c0038 a0005c0027 a0006c0010 a0007c0019 a0007c0034 a0007c0051 a0008c0021 a0008c0044 a0012c0025 a0015c0035 a0015c0045 a0019c0039 a0021c0043 a0023c0037 a0024c0046	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(48): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0016 a0001c0002t0028 a0001c0002t0031 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0012 a0001c0003t0013 a0001c0007t0001 a0001c0007t0005 a0001c0007t0012 a0001c0007t0024 a0001c0012t0001 a0001c0012t0002 a0001c0012t0014 a0001c0017t0001 a0001c0018t0005 a0001c0018t0033 a0001c0018t0034 a0001c0026t0008 a0001c0054t0001 a0002c0009t0004 a0002c0020t0007 a0002c0036t0007 a0003c0013t0003 a0003c0052t0003 a0004c0008t0001 a0004c0008t0006 a0004c0008t0011 a0004c0008t0019 a0004c0008t0022 a0004c0038t0009 a0005c0027t0003 a0006c0010t0001 a0006c0010t0002 a0007c0019t0004 a0007c0034t0004 a0007c0051t0004 a0008c0021t0001 a0008c0044t0001 a0012c0025t0001 a0015c0035t0005 a0015c0045t0005 a0019c0039t0003 a0021c0043t0007 a0023c0037t0001 a0024c0046t0018	a0001c0002t0001g0017 a0001c0002t0001g0091 a0001c0002t0001g0099 others(108): Show a0001c0002t0001g0017 a0001c0002t0001g0091 a0001c0002t0001g0099 a0001c0002t0001g0115 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0125 a0001c0002t0001g0128 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0175 a0001c0002t0001g0184 a0001c0002t0001g0188 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0201 a0001c0002t0001g0250 a0001c0002t0001g0280 a0001c0002t0002g0075 a0001c0002t0002g0116 a0001c0002t0002g0131 a0001c0002t0002g0135 a0001c0002t0002g0170 a0001c0002t0005g0107 a0001c0002t0005g0255 a0001c0002t0005g0256 a0001c0002t0006g0269 a0001c0002t0016g0199 a0001c0002t0028g0253 a0001c0002t0031g0132 a0001c0003t0001g0092 a0001c0003t0001g0094 a0001c0003t0001g0133 a0001c0003t0001g0254 a0001c0003t0001g0258 a0001c0003t0001g0278 a0001c0003t0001g0279 a0001c0003t0001g0286 a0001c0003t0002g0079 a0001c0003t0002g0081 a0001c0003t0002g0105 a0001c0003t0002g0205 a0001c0003t0002g0265 a0001c0003t0002g0284 a0001c0003t0006g0078 a0001c0003t0006g0274 a0001c0003t0006g0275 a0001c0003t0012g0261 a0001c0003t0013g0289 a0001c0007t0001g0030 a0001c0007t0001g0060 a0001c0007t0001g0266 a0001c0007t0005g0259 a0001c0007t0005g0260 a0001c0007t0012g0018 a0001c0007t0024g0051 a0001c0012t0001g0264 a0001c0012t0002g0117 a0001c0012t0002g0178 a0001c0012t0014g0006 a0001c0017t0001g0127 a0001c0017t0001g0288 a0001c0018t0005g0097 a0001c0018t0033g0291 a0001c0018t0034g0290 a0001c0026t0008g0124 a0001c0026t0008g0267 a0001c0054t0001g0016 a0002c0009t0004g0093 a0002c0009t0004g0282 a0002c0009t0004g0283 a0002c0009t0004g0285 a0002c0020t0007g0207 a0002c0020t0007g0257 a0002c0020t0007g0287 a0002c0036t0007g0240 a0003c0013t0003g0158 a0003c0013t0003g0159 a0003c0013t0003g0160 a0003c0052t0003g0130 a0004c0008t0001g0198 a0004c0008t0001g0203 a0004c0008t0001g0204 a0004c0008t0001g0276 a0004c0008t0006g0077 a0004c0008t0011g0206 a0004c0008t0019g0002 a0004c0008t0022g0010 a0004c0038t0009g0281 a0005c0027t0003g0119 a0006c0010t0001g0100 a0006c0010t0001g0110 a0006c0010t0001g0114 a0006c0010t0001g0249 a0006c0010t0002g0113 a0007c0019t0004g0200 a0007c0019t0004g0251 a0007c0019t0004g0252 a0007c0034t0004g0293 a0007c0051t0004g0263 a0008c0021t0001g0262 a0008c0044t0001g0182 a0012c0025t0001g0080 a0012c0025t0001g0181 a0015c0035t0005g0292 a0015c0045t0005g0197 a0019c0039t0003g0268 a0021c0043t0007g0277 a0023c0037t0001g0239 a0024c0046t0018g0019	111	255	0.4353	30	c.-50 others(47): Show c.-50-1203_-50-1202insCAGAAAATTAAATAATAACTATATTATT TA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGTGTTG others(23): Show GGGTGTTGGGTGAGGGGTTGGGGTTGGGTGA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0126 a0001c0012t0001g0130 a0001c0012t0001g0126 a0001c0012t0001g0130	2	165	0.0121	30	c.464 others(43): Show c.464+83_464+84insTGTTGGGTGAGGGGTTGGGGTTGGGTGAGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23180597	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	55	0.0182	30	c.-22 others(41): Show c.-2261_-2260insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding		2147		chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204304	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0170 a0001c0001t0005g0170	1	318	0.0031	30	c.107 others(49): Show c.1078-5417_1078-5416insCATATATATATATATATATATATATA TATA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204332	T T	TACATATA others(23): Show TACATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0234 a0001c0001t0005g0234	1	151	0.0066	30	c.107 others(49): Show c.1078-5417_1078-5416insCATATATATATATATATATATATAGA GAGA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204332	T T	TACATATA others(23): Show TACATATATATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0128 a0001c0001t0005g0128	1	151	0.0066	30	c.107 others(49): Show c.1078-5417_1078-5416insCATATATATATATATATATATATATA GAGA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204334	T T	TATATATA others(23): Show TATATATATATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0164 a0001c0001t0005g0164	1	100	0.0100	30	c.107 others(49): Show c.1078-5415_1078-5414insTATATATATATATATATATATATATA GAGA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCP2_chr1_52922276_53056698	52945744	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03139.hp1 HG03471.hp2 others(1): Show HG02451.hp2 HG03139.hp1 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0006 a0001c0003t0001 a0001c0002t0006 a0001c0003t0001	a0001c0002t0006g0045 a0001c0002t0006g0046 a0001c0003t0001g0169 others(1): Show a0001c0002t0006g0045 a0001c0002t0006g0046 a0001c0003t0001g0169 a0001c0003t0001g0277	4	261	0.0153	30	c.128 others(47): Show c.128-2249_128-2248insATATATATATATATATATATATATATAT AT	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCRG1_chr4_173379701_173404116	173399465	A A	AGTGTGTG others(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0128 a0001c0001t0011g0128	1	23	0.0435	30	c.-41 others(39): Show c.-413_-412insACACACACACACACACACACACACACACAC	SCRG1	ENSG00000164106.8	transcript	ENST00000296506.8	protein_coding		350		chr4	TogoVar
SCTR_chr2_119434843_119529483	119512340	C C	CCCTTCCC others(23): Show CCCTTCCCCTTCCCCTTCTCCTTCTCCTTCT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0078 a0001c0002t0004g0078	1	190	0.0053	30	c.72+ others(47): Show c.72+11814_72+11815insAGAAGGAGAAGGAGAAGGGGAAGGGGAA GG	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	1/12			chr2	TogoVar
SCT_chr11_621309_632181	627743	C C	CCGTTCAC others(23): Show CCGTTCACAGACGCTCCCGTCCTCCCAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02559.hp1 HG03471.hp2 others(1): Show HG02080.hp1 HG02559.hp1 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0001 a0001c0001t0001g0010	4	323	0.0124	30	c.-60 others(39): Show c.-601_-600insATTTTGGGAGGACGGGAGCGTCTGTGAACG	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		563		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43192578	G G	GTATATAT others(23): Show GTATATATACACGTATATATATATATACGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0089 a0001c0003t0003g0089	1	271	0.0037	30	c.11 others(43): Show c.11418_*11419insTACGTATATATATATATACGTGTATATATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4701		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43192578	G G	GTATATAT others(23): Show GTATATATATACGTATATATATATATACGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01070.hp1 HG01071.hp2 others(1): Show HG00642.hp2 HG01070.hp1 HG01071.hp2 HG03669.hp1	a0001 a0001	a0001c0003 a0001c0055 a0001c0003 a0001c0055	a0001c0003t0003 a0001c0055t0003 a0001c0003t0003 a0001c0055t0003	a0001c0003t0003g0001 a0001c0003t0003g0085 a0001c0055t0003g0138 a0001c0003t0003g0001 a0001c0003t0003g0085 a0001c0055t0003g0138	4	274	0.0146	30	c.11 others(43): Show c.11418_*11419insTACGTATATATATATATACGTATATATATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4701		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43192591	C C	CGTATATA others(23): Show CGTATATATATATACGTATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0158 a0002c0002t0002g0158	1	197	0.0051	30	c.11 others(43): Show c.11405_*11406insATATATATATATATACGTATATATATATAC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4688		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43192591	C C	CGTATATA others(23): Show CGTATATATATATATACGTATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01192.hp1 HG02055.hp2 others(3): Show HG00099.hp2 HG01192.hp1 HG02055.hp2 HG02129.hp2 HG02258.hp2 NA18950.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0007 a0002c0002 a0003c0007	a0002c0002t0002 a0002c0002t0011 a0002c0002t0062 others(1): Show a0002c0002t0002 a0002c0002t0011 a0002c0002t0062 a0003c0007t0002	a0002c0002t0002g0068 a0002c0002t0002g0115 a0002c0002t0011g0011 others(3): Show a0002c0002t0002g0068 a0002c0002t0002g0115 a0002c0002t0011g0011 a0002c0002t0011g0012 a0002c0002t0062g0184 a0003c0007t0002g0067	6	202	0.0297	30	c.11 others(43): Show c.11405_*11406insATATATATATATACGTATATATATATATAC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4688		chr22	TogoVar
SCYGR1_chr2_227382683_227392949	227389878	T T	TTTTTCTT others(23): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 NA21309.hp2 HG03453.hp2 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0001 a0004c0005 a0002c0001 a0004c0005	a0002c0001t0001 a0004c0005t0001 a0002c0001t0001 a0004c0005t0001	a0002c0001t0001g0000 a0004c0005t0001g0000 a0002c0001t0001g0000 a0004c0005t0001g0000	2	238	0.0084	30	c.-19 others(41): Show c.-1930_-1929insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		1930		chr2	TogoVar
SCYGR8_chr2_227740894_227751220	227750651	C C	CAATAAAA others(23): Show CAATAAAATAAAATAAAATAAAATAAAATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02559.hp2 HG03239.hp2 others(1): Show HG02165.hp1 HG02559.hp2 HG03239.hp2 NA18945.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0001c0001t0001 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0004c0004t0001g0000 a0001c0001t0001g0000 a0002c0002t0001g0000 a0004c0004t0001g0000	4	51	0.0784	30	c.44 others(41): Show c.4431_*4432insAATAAAATAAAATAAAATAAAATAAAATAA	SCYGR8	ENSG00000284635.2	transcript	ENST00000641981.2	protein_coding		4432		chr2	TogoVar
SCYL3_chr1_169844631_169898896	169850980	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0089 a0001c0001t0052g0089	1	300	0.0033	30	c.27 others(41): Show c.2732_*2733insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13	2732		chr1	TogoVar
SDAD1_chr4_75944915_75995945	75994045	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0096 a0001c0002t0002g0096	1	72	0.0139	30	c.-32 others(41): Show c.-3205_-3204insATATATATATATATATATATATATATATTT	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding		3101		chr4	TogoVar

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