Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SCIN_chr7_12565720_12665182	12632083	CATTTTAT others(3): Show CATTTTATTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00621.hp1 others(24): Show HG00099.hp1 HG00438.hp2 HG00621.hp1 HG01167.hp1 HG01169.hp2 HG01433.hp1 HG02055.hp1 HG02080.hp2 HG02135.hp2 HG02165.hp2 HG02622.hp1 HG02630.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03098.hp1 HG03098.hp2 HG03540.hp1 NA18747.hp2 NA18954.hp1 NA18965.hp1 NA18980.hp1 NA18982.hp2 NA19057.hp2 NA19079.hp2 NA19088.hp1 NA19090.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0009 a0011	a0001c0001 a0002c0002 a0002c0003 others(4): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0004c0005 a0009c0011 a0011c0013	a0001c0001t0008 a0001c0001t0018 a0001c0001t0019 others(19): Show a0001c0001t0008 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0032 a0001c0001t0052 a0001c0001t0104 a0001c0001t0112 a0001c0001t0147 a0001c0001t0149 a0001c0001t0170 a0001c0001t0262 a0002c0002t0001 a0002c0002t0007 a0002c0002t0118 a0002c0003t0059 a0003c0004t0013 a0004c0005t0231 a0009c0011t0027 a0009c0011t0129 a0011c0013t0043	a0001c0001t0008g0025 a0001c0001t0008g0090 a0001c0001t0008g0154 others(22): Show a0001c0001t0008g0025 a0001c0001t0008g0090 a0001c0001t0008g0154 a0001c0001t0018g0027 a0001c0001t0019g0114 a0001c0001t0020g0013 a0001c0001t0020g0041 a0001c0001t0023g0046 a0001c0001t0032g0091 a0001c0001t0052g0350 a0001c0001t0104g0042 a0001c0001t0112g0086 a0001c0001t0147g0079 a0001c0001t0149g0089 a0001c0001t0170g0219 a0001c0001t0262g0012 a0002c0002t0001g0253 a0002c0002t0007g0280 a0002c0002t0118g0279 a0002c0003t0059g0361 a0003c0004t0013g0001 a0004c0005t0231g0204 a0009c0011t0027g0005 a0009c0011t0129g0005 a0011c0013t0043g0238	27	372	0.0726	-10	c.131 others(29): Show c.1319+2918_1319+2927delTTTTATTTTA	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12635611	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02976.hp1 HG02040.hp2 HG02976.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0011 a0001c0001 a0009c0011	a0001c0001t0204 a0009c0011t0178 a0001c0001t0204 a0009c0011t0178	a0001c0001t0204g0165 a0009c0011t0178g0354 a0001c0001t0204g0165 a0009c0011t0178g0354	2	372	0.0054	-10	c.132 others(27): Show c.1320-412_1320-403delAAAAAAAAAA	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCLT1_chr4_128878993_129098539	128894363	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02572.hp2 others(4): Show HG02055.hp1 HG02258.hp1 HG02572.hp2 HG02723.hp2 HG02886.hp1 HG04115.hp1 NA18747.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0270 a0001c0001t0004g0281 a0001c0001t0004g0282 others(4): Show a0001c0001t0001g0270 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0004t0001g0019 a0001c0004t0001g0028 a0001c0004t0001g0037 a0002c0003t0001g0181	7	288	0.0243	-10	c.183 others(29): Show c.1830-3236_1830-3227delGTGTGTGTGT	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	18/20			chr4	TogoVar
SCLT1_chr4_128878993_129098539	129039898	GCGCACAC others(3): Show GCGCACACACA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp1 HG02280.hp1 others(4): Show HG01109.hp2 HG02109.hp1 HG02280.hp1 HG02895.hp1 HG02897.hp2 HG03516.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0260 others(4): Show a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264	7	288	0.0243	-10	c.235 others(25): Show c.235-812_235-803delTGTGTGTGCG	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	4/20			chr4	TogoVar
SCLT1_chr4_128878993_129098539	129039900	GCACACAC others(3): Show GCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp1 HG02451.hp1 others(3): Show HG01192.hp2 HG01243.hp1 HG02451.hp1 HG02896.hp1 NA18983.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0185 a0001c0002t0001g0094 a0001c0002t0001g0095 others(3): Show a0001c0001t0001g0185 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0278 a0002c0003t0001g0154	6	288	0.0208	-10	c.235 others(25): Show c.235-814_235-805delTGTGTGTGTG	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	4/20			chr4	TogoVar
SCLT1_chr4_128878993_129098539	129085728	CTGGAGAC others(3): Show CTGGAGACCAT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0093	1	288	0.0035	-10	c.35- others(25): Show c.35-3365_35-3356delATGGTCTCCA	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	1/20			chr4	TogoVar
SCLT1_chr4_128878993_129098539	129098415	ATGTGGTA others(3): Show ATGTGGTATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0012 a0002c0003t0002g0012	1	288	0.0035	-10	c.-53 others(21): Show c.-5322_-5313delAAATACCACA	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding		4877		chr4	TogoVar
SCLY_chr2_238056001_238104413	238061517	AGCCTTAT others(3): Show AGCCTTATGGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00544.hp2 others(79): Show HG00323.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01515.hp2 HG01516.hp2 HG01928.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02080.hp2 HG02083.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02723.hp1 HG02738.hp2 HG03491.hp2 HG03654.hp1 HG03688.hp1 HG03831.hp2 HG04184.hp2 HG06807.hp1 NA18939.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18953.hp2 NA18956.hp2 NA18961.hp2 NA18965.hp1 NA18968.hp1 NA18972.hp1 NA18974.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18985.hp1 NA18990.hp2 NA18993.hp1 NA18995.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19057.hp1 NA19059.hp1 NA19060.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19076.hp1 NA19079.hp1 NA19085.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0002c0014 a0006c0011 a0002c0002 a0002c0014 a0006c0011	a0002c0002t0001 a0002c0002t0008 a0002c0002t0014 others(36): Show a0002c0002t0001 a0002c0002t0008 a0002c0002t0014 a0002c0002t0017 a0002c0002t0021 a0002c0002t0035 a0002c0002t0036 a0002c0002t0037 a0002c0002t0039 a0002c0002t0060 a0002c0002t0063 a0002c0002t0064 a0002c0002t0065 a0002c0002t0066 a0002c0002t0068 a0002c0002t0069 a0002c0002t0070 a0002c0002t0071 a0002c0002t0073 a0002c0002t0074 a0002c0002t0075 a0002c0002t0076 a0002c0002t0077 a0002c0002t0078 a0002c0002t0088 a0002c0002t0090 a0002c0002t0118 a0002c0002t0123 a0002c0002t0157 a0002c0002t0160 a0002c0002t0165 a0002c0002t0166 a0002c0002t0169 a0002c0002t0171 a0002c0002t0180 a0002c0002t0181 a0002c0014t0151 a0006c0011t0048 a0006c0011t0067	a0002c0002t0001g0006 a0002c0002t0001g0009 a0002c0002t0001g0032 others(70): Show a0002c0002t0001g0006 a0002c0002t0001g0009 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0206 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0220 a0002c0002t0001g0222 a0002c0002t0001g0232 a0002c0002t0001g0235 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0008g0002 a0002c0002t0008g0211 a0002c0002t0008g0212 a0002c0002t0008g0231 a0002c0002t0008g0243 a0002c0002t0014g0002 a0002c0002t0014g0192 a0002c0002t0014g0228 a0002c0002t0014g0236 a0002c0002t0017g0214 a0002c0002t0021g0002 a0002c0002t0021g0223 a0002c0002t0021g0234 a0002c0002t0035g0016 a0002c0002t0036g0226 a0002c0002t0036g0227 a0002c0002t0037g0002 a0002c0002t0037g0032 a0002c0002t0039g0196 a0002c0002t0039g0239 a0002c0002t0060g0006 a0002c0002t0060g0225 a0002c0002t0063g0216 a0002c0002t0064g0191 a0002c0002t0065g0002 a0002c0002t0066g0213 a0002c0002t0068g0031 a0002c0002t0069g0210 a0002c0002t0070g0209 a0002c0002t0071g0002 a0002c0002t0073g0016 a0002c0002t0074g0244 a0002c0002t0075g0215 a0002c0002t0076g0204 a0002c0002t0077g0202 a0002c0002t0078g0002 a0002c0002t0088g0242 a0002c0002t0090g0233 a0002c0002t0118g0205 a0002c0002t0123g0031 a0002c0002t0157g0006 a0002c0002t0160g0219 a0002c0002t0165g0221 a0002c0002t0166g0208 a0002c0002t0169g0207 a0002c0002t0171g0006 a0002c0002t0180g0240 a0002c0002t0181g0241 a0002c0014t0151g0203 a0006c0011t0048g0229 a0006c0011t0048g0230 a0006c0011t0067g0224	82	392	0.2092	-10	c.89+ others(23): Show c.89+379_89+388delTATGGGGCCT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238079068	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0052 a0001c0003t0052	a0001c0003t0052g0177 a0001c0003t0052g0177	1	392	0.0026	-10	c.485 others(27): Show c.485-2624_485-2615delTTTTTTTTTT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238097158	AGGGCTGG others(3): Show AGGGCTGGGGC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01175.hp1 HG00140.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0068 a0001c0001t0041g0069 a0001c0001t0041g0068 a0001c0001t0041g0069	2	392	0.0051	-10	c.118 others(27): Show c.1184+292_1184+301delCGGGCTGGGG	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCMH1_chr1_41022202_41247306	41087937	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0261 a0001c0001t0004g0261	1	304	0.0033	-10	c.746 others(29): Show c.746-12496_746-12487delACACACACAC	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	8/15			chr1	TogoVar
SCMH1_chr1_41022202_41247306	41121188	ACACTGCC others(3): Show ACACTGCCTGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00639.hp1 others(39): Show HG00140.hp1 HG00323.hp2 HG00639.hp1 HG00642.hp1 HG01109.hp1 HG01109.hp2 HG01255.hp1 HG01346.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02027.hp1 HG02602.hp1 HG02698.hp2 HG02738.hp2 HG03017.hp2 HG03669.hp1 NA18941.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18967.hp1 NA18968.hp2 NA18971.hp2 NA18980.hp2 NA18986.hp2 NA18993.hp2 NA18999.hp2 NA19011.hp2 NA19056.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19070.hp2 NA19074.hp1 NA19085.hp1 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0003 a0001c0001 a0005c0003	a0001c0001t0002 a0005c0003t0002 a0001c0001t0002 a0005c0003t0002	a0001c0001t0002g0007 a0001c0001t0002g0067 a0001c0001t0002g0068 others(39): Show a0001c0001t0002g0007 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0005c0003t0002g0102	42	304	0.1382	-10	c.413 others(27): Show c.413-4188_413-4179delCCAGGCAGTG	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	6/15			chr1	TogoVar
SCMH1_chr1_41022202_41247306	41192815	GATGCACA others(3): Show GATGCACACTT	G G	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18973.hp1 NA18967.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0052 a0001c0001t0001g0027 a0001c0001t0001g0052	2	304	0.0066	-10	c.-11 others(29): Show c.-117-6575_-117-6566delAAGTGTGCAT	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	1/15			chr1	TogoVar
SCMH1_chr1_41022202_41247306	41235569	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02630.hp1 others(1): Show HG01243.hp1 HG01891.hp1 HG02630.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 others(1): Show a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0014g0153	4	304	0.0132	-10	c.-11 others(29): Show c.-118+6480_-118+6489delTTTTTTTTTT	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	1/15			chr1	TogoVar
SCML1_chrX_17732493_17759985	17737422	GCCCCCCC others(3): Show GCCCCCCCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01069.hp1 HG02258.hp1 others(4): Show HG00099.hp2 HG01069.hp1 HG02258.hp1 HG02897.hp1 HG02965.hp1 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0001 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0010 a0001c0001t0003g0016 a0001c0001t0003g0067 others(1): Show a0001c0001t0001g0010 a0001c0001t0003g0016 a0001c0001t0003g0067 a0001c0001t0009g0008	7	281	0.0249	-10	c.-37 others(19): Show c.-374_-365delCCCCCCCCCC	SCML1	ENSG00000047634.15	transcript	ENST00000380041.8	protein_coding		70		chrX	TogoVar
SCML2_chrX_18234313_18359688	18264431	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02559.hp2 HG03098.hp1 others(4): Show HG01070.hp2 HG02559.hp2 HG03098.hp1 HG06807.hp2 NA18985.hp1 NA18992.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0110 a0001c0001t0001g0136 a0001c0001t0001g0143 others(4): Show a0001c0001t0001g0110 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0183 a0001c0002t0001g0092 a0001c0002t0001g0147	7	247	0.0283	-10	c.948 others(27): Show c.948+1144_948+1153delCACACACACA	SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	8/14			chrX	TogoVar
SCML2_chrX_18234313_18359688	18331259	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	247	0.0041	-10	c.23- others(23): Show c.23-614_23-605delTTTTTTTTTT	SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	2/14			chrX	TogoVar
SCML2_chrX_18234313_18359688	18347723	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01257.hp2 HG00323.hp1 HG01257.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0149 a0004c0006t0001g0150 a0001c0001t0001g0149 a0004c0006t0001g0150	2	247	0.0081	-10	c.-25 others(27): Show c.-25+6859_-25+6868delTTTTTTTTTT	SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	1/14			chrX	TogoVar
SCML4_chr6_107697154_107829313	107751638	CTTTCTTT others(3): Show CTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0163 a0001c0002t0010g0163	1	250	0.0040	-10	c.157 others(27): Show c.157-1835_157-1826delAAGAAAGAAA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	2/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107813370	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	250	0.0040	-10	c.-60 others(29): Show c.-60+10746_-60+10755delTATATATATA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107813415	TATATATA others(3): Show TATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01884.hp2 HG01978.hp1 others(5): Show HG01099.hp1 HG01884.hp2 HG01978.hp1 HG02129.hp1 HG02965.hp2 HG03139.hp1 NA18945.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0002c0007	a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 others(4): Show a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0002t0005 a0001c0005t0018 a0001c0008t0001 a0002c0007t0007	a0001c0001t0002g0211 a0001c0001t0008g0213 a0001c0002t0001g0153 others(5): Show a0001c0001t0002g0211 a0001c0001t0008g0213 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0005g0210 a0001c0005t0018g0212 a0001c0008t0001g0069 a0002c0007t0007g0018	8	250	0.0320	-10	c.-60 others(29): Show c.-60+10701_-60+10710delTTATATATAT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107824462	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG00639.hp1 others(20): Show HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00741.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp2 HG01433.hp2 HG01978.hp2 HG02004.hp2 HG02145.hp1 HG02145.hp2 HG02572.hp1 HG03209.hp2 HG03225.hp2 HG03540.hp1 HG03704.hp1 HG03927.hp2 HG06807.hp1 NA18971.hp2 NA19043.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004 a0002c0007 a0003c0015 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0024 a0001c0002t0001 a0001c0005t0017 a0002c0004t0009 a0002c0004t0028 a0002c0007t0007 a0003c0015t0009 a0004c0013t0006	a0001c0001t0001g0091 a0001c0001t0002g0093 a0001c0001t0003g0021 others(20): Show a0001c0001t0001g0091 a0001c0001t0002g0093 a0001c0001t0003g0021 a0001c0001t0003g0029 a0001c0001t0003g0043 a0001c0001t0003g0092 a0001c0001t0006g0046 a0001c0001t0006g0094 a0001c0001t0006g0101 a0001c0001t0006g0115 a0001c0001t0006g0138 a0001c0001t0008g0223 a0001c0001t0014g0125 a0001c0001t0024g0088 a0001c0002t0001g0031 a0001c0002t0001g0087 a0001c0005t0017g0195 a0002c0004t0009g0095 a0002c0004t0009g0096 a0002c0004t0028g0086 a0002c0007t0007g0035 a0003c0015t0009g0001 a0004c0013t0006g0037	23	250	0.0920	-10	c.-40 others(19): Show c.-406_-397delCACACACACA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding		150		chr6	TogoVar
SCML4_chr6_107697154_107829313	107825936	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0115 a0001c0001t0006g0115	1	250	0.0040	-10	c.-18 others(21): Show c.-1880_-1871delTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding		1624		chr6	TogoVar
SCN10A_chr3_38691807_38821217	38719367	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03540.hp1 NA19009.hp2 HG02738.hp1 HG03540.hp1 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0002 a0002c0001t0001 a0001c0003t0002 a0002c0001t0001	a0001c0003t0002g0100 a0002c0001t0001g0234 a0002c0001t0001g0348 a0001c0003t0002g0100 a0002c0001t0001g0234 a0002c0001t0001g0348	3	372	0.0081	-10	c.350 others(27): Show c.3508-551_3508-542delAAAAAAAAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	20/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38736361	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00597.hp1 others(39): Show HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00741.hp1 HG01081.hp2 HG01255.hp2 HG02027.hp1 HG02080.hp2 HG02129.hp1 HG02258.hp2 HG02280.hp2 HG02698.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18947.hp1 NA18948.hp2 NA18952.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp2 NA18970.hp2 NA18972.hp2 NA18974.hp1 NA18982.hp1 NA18987.hp1 NA19005.hp1 NA19043.hp2 NA19057.hp2 NA19058.hp2 NA19064.hp1 NA19065.hp2 NA19080.hp2 NA19087.hp2 NA19088.hp2	a0002 a0004 a0005 others(4): Show a0002 a0004 a0005 a0006 a0015 a0030 a0031	a0002c0001 a0004c0005 a0004c0020 others(11): Show a0002c0001 a0004c0005 a0004c0020 a0004c0033 a0004c0062 a0005c0009 a0005c0011 a0005c0013 a0005c0025 a0005c0045 a0006c0016 a0015c0046 a0030c0061 a0031c0064	a0002c0001t0002 a0004c0005t0001 a0004c0020t0001 others(12): Show a0002c0001t0002 a0004c0005t0001 a0004c0020t0001 a0004c0020t0002 a0004c0033t0001 a0004c0062t0001 a0005c0009t0002 a0005c0011t0001 a0005c0013t0001 a0005c0025t0001 a0005c0045t0001 a0006c0016t0001 a0015c0046t0001 a0030c0061t0001 a0031c0064t0001	a0002c0001t0002g0278 a0004c0005t0001g0021 a0004c0005t0001g0067 others(39): Show a0002c0001t0002g0278 a0004c0005t0001g0021 a0004c0005t0001g0067 a0004c0005t0001g0068 a0004c0005t0001g0069 a0004c0005t0001g0070 a0004c0005t0001g0073 a0004c0005t0001g0168 a0004c0005t0001g0172 a0004c0005t0001g0174 a0004c0005t0001g0175 a0004c0005t0001g0186 a0004c0005t0001g0192 a0004c0005t0001g0212 a0004c0005t0001g0213 a0004c0005t0001g0214 a0004c0005t0001g0215 a0004c0005t0001g0216 a0004c0005t0001g0217 a0004c0005t0001g0218 a0004c0005t0001g0323 a0004c0020t0001g0167 a0004c0020t0002g0171 a0004c0020t0002g0176 a0004c0033t0001g0165 a0004c0033t0001g0173 a0004c0062t0001g0242 a0005c0009t0002g0044 a0005c0009t0002g0059 a0005c0011t0001g0045 a0005c0011t0001g0052 a0005c0013t0001g0060 a0005c0013t0001g0074 a0005c0013t0001g0076 a0005c0025t0001g0304 a0005c0045t0001g0303 a0006c0016t0001g0031 a0006c0016t0001g0051 a0006c0016t0001g0053 a0015c0046t0001g0046 a0030c0061t0001g0211 a0031c0064t0001g0237	42	372	0.1129	-10	c.228 others(29): Show c.2280+3144_2280+3153delCACACACACA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38772726	AAAACAAA others(3): Show AAAACAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0144 a0001c0007t0001g0144	1	372	0.0027	-10	c.471 others(27): Show c.471-1329_471-1320delGTTTTTGTTT	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	4/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38772730	CAAAAACA others(3): Show CAAAAACAAAA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0333 a0001c0007t0001g0333	1	372	0.0027	-10	c.471 others(27): Show c.471-1333_471-1324delTTTTGTTTTT	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	4/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38889802	AAAAATAA others(3): Show AAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01168.hp1 HG01169.hp2 others(24): Show HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02148.hp1 HG02148.hp2 HG02572.hp1 HG02622.hp2 HG02723.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03540.hp2 NA18947.hp1 NA18965.hp1 NA18986.hp1 NA19060.hp2 NA20129.hp1 NA20905.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0005 a0001c0006 others(3): Show a0001c0001 a0001c0005 a0001c0006 a0001c0012 a0003c0004 a0006c0022	a0001c0001t0002 a0001c0005t0001 a0001c0006t0003 others(3): Show a0001c0001t0002 a0001c0005t0001 a0001c0006t0003 a0001c0012t0001 a0003c0004t0001 a0006c0022t0001	a0001c0001t0002g0059 a0001c0001t0002g0087 a0001c0001t0002g0097 others(24): Show a0001c0001t0002g0059 a0001c0001t0002g0087 a0001c0001t0002g0097 a0001c0005t0001g0240 a0001c0005t0001g0241 a0001c0005t0001g0242 a0001c0005t0001g0243 a0001c0005t0001g0244 a0001c0005t0001g0245 a0001c0005t0001g0246 a0001c0005t0001g0253 a0001c0005t0001g0254 a0001c0005t0001g0255 a0001c0005t0001g0256 a0001c0005t0001g0257 a0001c0006t0003g0290 a0001c0012t0001g0260 a0001c0012t0001g0261 a0003c0004t0001g0063 a0003c0004t0001g0064 a0003c0004t0001g0209 a0003c0004t0001g0216 a0003c0004t0001g0219 a0003c0004t0001g0221 a0003c0004t0001g0222 a0003c0004t0001g0230 a0006c0022t0001g0198	27	314	0.0860	-10	c.283 others(29): Show c.2836-3574_2836-3565delATTTTATTTT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	19/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38907310	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp2 HG01109.hp2 others(24): Show HG00733.hp2 HG01074.hp2 HG01109.hp2 HG01192.hp2 HG01361.hp1 HG02027.hp1 HG02080.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02886.hp2 HG03098.hp1 HG03139.hp1 HG03831.hp2 NA18952.hp2 NA18967.hp2 NA18989.hp2 NA19002.hp1 NA19003.hp2 NA19063.hp1 NA19085.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0010c0023	a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 others(2): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0005t0001 a0010c0023t0004	a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 others(24): Show a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0289 a0001c0002t0001g0151 a0001c0002t0004g0040 a0001c0002t0004g0042 a0001c0002t0004g0043 a0001c0002t0004g0044 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0005t0001g0243 a0001c0005t0001g0244 a0001c0005t0001g0245 a0001c0005t0001g0253 a0010c0023t0004g0039	27	314	0.0860	-10	c.147 others(27): Show c.1473+629_1473+638delCACACACACA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	14/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38907357	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 NA19240.hp2 others(1): Show HG02572.hp2 HG02630.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 others(1): Show a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0284	4	314	0.0127	-10	c.147 others(27): Show c.1473+582_1473+591delGTGTGTGTGT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	14/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38929164	CACACACA others(3): Show CACACACACAT	C C	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	314	0.0032	-10	c.489 others(27): Show c.489-2243_489-2234delATGTGTGTGT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938509	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp2 HG00642.hp2 others(16): Show HG00280.hp2 HG00621.hp2 HG00642.hp2 HG01192.hp2 HG01891.hp2 HG02040.hp2 HG02071.hp2 HG02738.hp1 HG03516.hp1 NA18941.hp1 NA18949.hp2 NA18957.hp1 NA18964.hp2 NA18965.hp2 NA18975.hp2 NA18978.hp2 NA19086.hp2 NA19088.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0016 a0002c0003t0008 a0001c0002t0001 a0001c0002t0016 a0002c0003t0008	a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 others(16): Show a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0172 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0192 a0001c0002t0001g0194 a0001c0002t0016g0184 a0002c0003t0008g0005 a0002c0003t0008g0006 a0002c0003t0008g0024	19	314	0.0605	-10	c.488 others(27): Show c.488+6892_488+6901delATATATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938542	ATATATAT others(3): Show ATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02056.hp2 HG02145.hp2 others(6): Show HG00597.hp2 HG02056.hp2 HG02145.hp2 HG02602.hp2 HG02809.hp2 HG03139.hp2 HG03654.hp1 NA18939.hp1 NA19005.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0003 a0005c0017 a0001c0002 a0002c0003 a0005c0017	a0001c0002t0001 a0002c0003t0001 a0005c0017t0015 a0001c0002t0001 a0002c0003t0001 a0005c0017t0015	a0001c0002t0001g0155 a0001c0002t0001g0165 a0001c0002t0001g0173 others(6): Show a0001c0002t0001g0155 a0001c0002t0001g0165 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0182 a0001c0002t0001g0185 a0001c0002t0001g0238 a0002c0003t0001g0033 a0005c0017t0015g0208	9	314	0.0287	-10	c.488 others(27): Show c.488+6859_488+6868delAATATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938544	ATATATAT others(3): Show ATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02896.hp2 HG02897.hp1 others(1): Show HG02258.hp2 HG02896.hp2 HG02897.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0163 a0002c0003t0001g0028 a0002c0003t0001g0029 others(1): Show a0001c0002t0001g0163 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030	4	314	0.0127	-10	c.488 others(27): Show c.488+6857_488+6866delAAAATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938546	ATATATTT others(3): Show ATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG02486.hp1 others(3): Show HG01516.hp2 HG01517.hp2 HG02486.hp1 HG02886.hp2 HG03139.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0006t0003 a0001c0006t0006 a0001c0001t0003 a0001c0006t0003 a0001c0006t0006	a0001c0001t0003g0280 a0001c0001t0003g0286 a0001c0001t0003g0289 others(3): Show a0001c0001t0003g0280 a0001c0001t0003g0286 a0001c0001t0003g0289 a0001c0006t0003g0291 a0001c0006t0003g0292 a0001c0006t0006g0297	6	314	0.0191	-10	c.488 others(27): Show c.488+6855_488+6864delAAAAAATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938548	ATATTTTT others(3): Show ATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0296 a0001c0006t0006g0296	1	314	0.0032	-10	c.488 others(27): Show c.488+6853_488+6862delAAAAAAAATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38987301	TCTCACAC others(3): Show TCTCACACACA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00558.hp2 others(19): Show HG00140.hp1 HG00280.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG01192.hp2 HG01981.hp2 HG02040.hp2 HG02056.hp2 HG02109.hp1 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG03130.hp1 NA18941.hp1 NA18947.hp2 NA18959.hp2 NA18964.hp2 NA18975.hp2 NA18978.hp2 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0012 a0001c0016 a0001c0002 a0001c0012 a0001c0016	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0012t0001 a0001c0016t0001	a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 others(19): Show a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0157 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0190 a0001c0002t0001g0196 a0001c0002t0002g0156 a0001c0002t0004g0195 a0001c0012t0001g0260 a0001c0012t0001g0261 a0001c0016t0001g0263	22	314	0.0701	-10	c.-27 others(31): Show c.-279-26888_-279-26879delTGTGTGTGAG	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38987303	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02071.hp2 HG02602.hp2 others(11): Show HG00621.hp2 HG02071.hp2 HG02602.hp2 HG02738.hp1 NA18939.hp1 NA18945.hp1 NA18949.hp2 NA18957.hp1 NA18993.hp2 NA19005.hp1 NA19060.hp1 NA19080.hp2 NA19086.hp2 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0016 a0001c0002t0001 a0001c0002t0016	a0001c0002t0001g0155 a0001c0002t0001g0166 a0001c0002t0001g0175 others(11): Show a0001c0002t0001g0155 a0001c0002t0001g0166 a0001c0002t0001g0175 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0189 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0016g0184	14	314	0.0446	-10	c.-27 others(31): Show c.-279-26890_-279-26881delTGTGTGTGTG	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	165989059	TGTGTGTG others(3): Show TGTGTGTGTGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(67): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01884.hp2 HG01928.hp1 HG01978.hp1 HG01993.hp1 HG02074.hp1 HG02135.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02683.hp2 HG02738.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03492.hp2 HG03516.hp2 HG03688.hp1 HG03710.hp1 HG04199.hp1 HG04204.hp1 NA18939.hp1 NA18941.hp2 NA18947.hp1 NA18952.hp2 NA18974.hp2 NA18980.hp2 NA18981.hp2 NA18988.hp1 NA18990.hp2 NA18993.hp1 NA19001.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp1 NA19090.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0023 a0002c0002 others(1): Show a0001c0001 a0001c0023 a0002c0002 a0011c0013	a0001c0001t0001 a0001c0001t0012 a0001c0001t0023 others(13): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0023 a0001c0001t0028 a0001c0001t0035 a0001c0001t0046 a0001c0001t0048 a0001c0001t0050 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0023t0023 a0002c0002t0052 a0002c0002t0054 a0011c0013t0053	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 others(67): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0124 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0171 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0224 a0001c0001t0001g0263 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0012g0003 a0001c0001t0012g0004 a0001c0001t0012g0006 a0001c0001t0012g0009 a0001c0001t0012g0010 a0001c0001t0012g0012 a0001c0001t0023g0146 a0001c0001t0023g0252 a0001c0001t0028g0008 a0001c0001t0028g0011 a0001c0001t0035g0082 a0001c0001t0035g0083 a0001c0001t0046g0352 a0001c0001t0046g0353 a0001c0001t0048g0005 a0001c0001t0050g0249 a0001c0001t0064g0106 a0001c0001t0065g0066 a0001c0001t0066g0203 a0001c0001t0067g0184 a0001c0023t0023g0176 a0002c0002t0052g0307 a0002c0002t0054g0306 a0011c0013t0053g0305	70	356	0.1966	-10	c.21 others(21): Show c.2176_*2185delGCACACACAC	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	29/29	2176		chr2	TogoVar
SCN1A_chr2_165980813_166133020	165989065	TGTGCGCG others(3): Show TGTGCGCGCGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0199 a0001c0001t0057g0199	1	356	0.0028	-10	c.21 others(21): Show c.2170_*2179delGCGCGCGCAC	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	29/29	2170		chr2	TogoVar
SCN1A_chr2_165980813_166133020	165993202	TGTGTGTG others(3): Show TGTGTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	356	0.0028	-10	c.485 others(27): Show c.4853-790_4853-781delTCACACACAC	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	28/28			chr2	TogoVar
SCN1A_chr2_165980813_166133020	166090029	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01891.hp1 HG02559.hp2 others(4): Show HG00140.hp1 HG01891.hp1 HG02559.hp2 HG02886.hp1 HG03471.hp1 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0049 a0001c0001t0068 others(1): Show a0001c0001t0006 a0001c0001t0049 a0001c0001t0068 a0001c0001t0069	a0001c0001t0006g0286 a0001c0001t0006g0289 a0001c0001t0006g0290 others(4): Show a0001c0001t0006g0286 a0001c0001t0006g0289 a0001c0001t0006g0290 a0001c0001t0006g0292 a0001c0001t0049g0291 a0001c0001t0068g0288 a0001c0001t0069g0287	7	356	0.0197	-10	c.-14 others(31): Show c.-141-12238_-141-12229delAAAAAAAAAA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28			chr2	TogoVar
SCN1A_chr2_165980813_166133020	166120596	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02922.hp1 HG02922.hp2 others(4): Show HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03195.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0006 a0001c0001t0021 a0001c0003t0020 others(1): Show a0001c0001t0006 a0001c0001t0021 a0001c0003t0020 a0002c0002t0077	a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0021g0157 others(4): Show a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0021g0157 a0001c0001t0021g0158 a0001c0001t0021g0162 a0001c0003t0020g0163 a0002c0002t0077g0161	7	356	0.0197	-10	c.-14 others(29): Show c.-142+6318_-142+6327delAAAAAAAAAA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28			chr2	TogoVar
SCN1B_chr19_35025470_35045449	35026539	TGGGGAGG others(3): Show TGGGGAGGGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	404	0.0025	-10	c.-42 others(21): Show c.-4281_-4272delGGGGAGGGGA	SCN1B	ENSG00000105711.14	transcript	ENST00000262631.11	protein_coding		3930		chr19	TogoVar
SCN1B_chr19_35025470_35045449	35028744	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG01074.hp1 others(43): Show HG00140.hp2 HG00280.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp2 HG01361.hp2 HG01433.hp1 HG01981.hp2 HG02027.hp1 HG02132.hp2 HG02615.hp2 HG02698.hp1 HG02738.hp1 HG03453.hp2 HG03492.hp2 HG03654.hp2 HG03831.hp1 HG03927.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18747.hp1 NA18941.hp2 NA18955.hp1 NA18959.hp1 NA18962.hp2 NA18967.hp2 NA18968.hp2 NA18978.hp1 NA18989.hp2 NA18992.hp2 NA18994.hp2 NA18997.hp1 NA19003.hp2 NA19009.hp1 NA19060.hp2 NA19064.hp1 NA19070.hp2 NA19080.hp1 NA19082.hp1 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0002g0003 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0024 a0001c0001t0002g0047 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0099 a0001c0001t0003g0004 a0001c0001t0003g0054 a0001c0001t0005g0045 a0001c0001t0009g0065 a0001c0001t0012g0024 a0001c0001t0014g0003	46	404	0.1139	-10	c.-20 others(21): Show c.-2076_-2067delTTTTTTTTTT	SCN1B	ENSG00000105711.14	transcript	ENST00000262631.11	protein_coding		1725		chr19	TogoVar
SCN1B_chr19_35025470_35045449	35029542	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	-10	c.-12 others(21): Show c.-1278_-1269delAAAAAAAAAA	SCN1B	ENSG00000105711.14	transcript	ENST00000262631.11	protein_coding		927		chr19	TogoVar
SCN1B_chr19_35025470_35045449	35033892	TGCCCACT others(3): Show TGCCCACTCCA	T T	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	404	0.0025	-10	c.448 others(25): Show c.448+156_448+165delCCACTCCAGC	SCN1B	ENSG00000105711.14	transcript	ENST00000262631.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
SCN2A_chr2_165234414_165397304	165272764	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp1 HG01192.hp2 others(4): Show HG00639.hp2 HG01099.hp1 HG01192.hp2 HG01346.hp2 HG01496.hp1 HG04115.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0343 others(4): Show a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0348	7	358	0.0196	-10	c.-51 others(29): Show c.-51-22976_-51-22967delCACACACACA	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165306504	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp2 others(88): Show HG00099.hp1 HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02273.hp1 HG02293.hp2 HG02523.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02965.hp1 HG03017.hp1 HG03239.hp1 HG03669.hp2 HG03831.hp1 HG04115.hp1 HG04228.hp1 NA18612.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18971.hp2 NA18973.hp2 NA18981.hp2 NA18984.hp1 NA18992.hp1 NA18993.hp2 NA19002.hp1 NA19003.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA20905.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0001c0016 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0009t0001 a0001c0016t0002 a0005c0011t0002	a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0202 others(87): Show a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0228 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0331 a0001c0001t0002g0002 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0038 a0001c0001t0002g0076 a0001c0001t0002g0087 a0001c0001t0002g0098 a0001c0001t0002g0113 a0001c0001t0002g0122 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0255 a0001c0001t0002g0295 a0001c0001t0002g0302 a0001c0001t0002g0310 a0001c0001t0002g0329 a0001c0001t0002g0334 a0001c0001t0008g0265 a0001c0001t0009g0212 a0001c0001t0009g0230 a0001c0001t0010g0165 a0001c0001t0010g0253 a0001c0001t0011g0338 a0001c0002t0001g0032 a0001c0002t0001g0172 a0001c0009t0001g0041 a0001c0016t0002g0240 a0005c0011t0002g0116	91	358	0.2542	-10	c.387 others(27): Show c.387-1304_387-1295delGTGTGTGTGT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165350460	CTTTCTTT others(3): Show CTTTCTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02630.hp2 others(6): Show HG01891.hp1 HG02451.hp2 HG02630.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 others(1): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0004t0004	a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0008g0265 others(6): Show a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0008g0265 a0001c0001t0013g0040 a0001c0004t0004g0158 a0001c0004t0004g0185 a0001c0004t0004g0226 a0001c0004t0004g0283 a0001c0004t0004g0284	9	358	0.0251	-10	c.292 others(29): Show c.2920-3728_2920-3719delCTTTTTTTTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	16/26		INFO_REALIGN_3_PRIME	chr2	TogoVar

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