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
SCIMP_chr17_5203920_5239860	5209123	GTTTATTT others(1): Show GTTTATTTA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp1 HG02615.hp2 HG02717.hp2 others(2): Show HG02615.hp1 HG02615.hp2 HG02717.hp2 HG03041.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0008 a0001c0002t0017 a0001c0001t0008 a0001c0002t0008 a0001c0002t0017	a0001c0001t0008g0080 a0001c0001t0008g0342 a0001c0002t0008g0031 others(2): Show a0001c0001t0008g0080 a0001c0001t0008g0342 a0001c0002t0008g0031 a0001c0002t0008g0265 a0001c0002t0017g0264	5	386	0.0130	-8	c.16 others(19): Show c.1670_*1677delTAAATAAA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	5/5	1670		chr17	TogoVar
SCIN_chr7_12565720_12665182	12569183	GACACACA others(1): Show GACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01109.hp1 HG01257.hp1 others(34): Show HG00597.hp2 HG01109.hp1 HG01257.hp1 HG01258.hp1 HG02027.hp2 HG02135.hp1 HG02145.hp1 HG02165.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02630.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03130.hp2 HG03831.hp2 NA18747.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18949.hp2 NA18954.hp2 NA18964.hp2 NA18970.hp2 NA18971.hp2 NA18981.hp1 NA18983.hp2 NA19000.hp2 NA19009.hp2 NA19057.hp1 NA19064.hp1 NA19079.hp1 NA19080.hp1 NA19088.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0014	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0007c0007 a0014c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0021 a0001c0001t0025 a0001c0001t0034 a0001c0001t0043 a0001c0001t0077 a0001c0001t0082 a0001c0001t0105 a0001c0001t0135 a0001c0001t0137 a0001c0001t0160 a0001c0001t0227 a0001c0001t0251 a0001c0001t0252 a0001c0001t0255 a0001c0001t0264 a0002c0002t0029 a0002c0002t0173 a0002c0002t0174 a0002c0003t0058 a0002c0003t0059 a0002c0003t0060 a0002c0003t0061 a0002c0003t0062 a0002c0003t0063 a0002c0003t0065 a0007c0007t0003 a0007c0007t0050 a0007c0007t0090 a0007c0007t0271 a0014c0015t0155	a0001c0001t0001g0028 a0001c0001t0002g0036 a0001c0001t0003g0015 others(33): Show a0001c0001t0001g0028 a0001c0001t0002g0036 a0001c0001t0003g0015 a0001c0001t0008g0025 a0001c0001t0009g0009 a0001c0001t0018g0027 a0001c0001t0021g0033 a0001c0001t0025g0022 a0001c0001t0034g0032 a0001c0001t0043g0019 a0001c0001t0077g0021 a0001c0001t0082g0035 a0001c0001t0105g0038 a0001c0001t0135g0031 a0001c0001t0137g0029 a0001c0001t0160g0026 a0001c0001t0227g0034 a0001c0001t0251g0024 a0001c0001t0252g0030 a0001c0001t0255g0023 a0001c0001t0264g0016 a0002c0002t0029g0269 a0002c0002t0173g0006 a0002c0002t0174g0006 a0002c0003t0058g0359 a0002c0003t0059g0361 a0002c0003t0060g0362 a0002c0003t0061g0363 a0002c0003t0062g0357 a0002c0003t0063g0360 a0002c0003t0065g0358 a0007c0007t0003g0336 a0007c0007t0050g0008 a0007c0007t0090g0337 a0007c0007t0271g0339 a0014c0015t0155g0037	37	372	0.0995	-8	c.-16 others(19): Show c.-1603_-1596delACACACAC	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding		1536		chr7	TogoVar
SCIN_chr7_12565720_12665182	12599370	AGTGTGTG others(1): Show AGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01106.hp2 HG01167.hp2 others(43): Show HG00544.hp2 HG01106.hp2 HG01167.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp2 HG01515.hp1 HG01517.hp1 HG01952.hp2 HG02004.hp1 HG02040.hp1 HG02083.hp2 HG02132.hp1 HG02165.hp1 HG02300.hp2 HG02451.hp1 HG02602.hp1 HG02622.hp1 HG02723.hp1 HG02922.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG04184.hp1 HG04184.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18952.hp1 NA18965.hp2 NA18983.hp1 NA18991.hp1 NA18992.hp2 NA18993.hp2 NA19004.hp1 NA19062.hp1 NA19068.hp1 NA19080.hp2 NA19088.hp2 NA20129.hp2 NA20805.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0012	a0001c0001 a0002c0002 a0002c0003 others(4): Show a0001c0001 a0002c0002 a0002c0003 a0002c0010 a0002c0019 a0005c0008 a0012c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0034 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0034 a0001c0001t0042 a0001c0001t0049 a0001c0001t0054 a0001c0001t0068 a0001c0001t0081 a0001c0001t0096 a0001c0001t0100 a0001c0001t0114 a0001c0001t0119 a0001c0001t0127 a0001c0001t0130 a0001c0001t0157 a0001c0001t0163 a0001c0001t0168 a0001c0001t0170 a0001c0001t0180 a0001c0001t0183 a0001c0001t0184 a0001c0001t0201 a0001c0001t0202 a0001c0001t0205 a0001c0001t0248 a0002c0002t0008 a0002c0002t0024 a0002c0002t0025 a0002c0002t0027 a0002c0002t0073 a0002c0002t0094 a0002c0002t0122 a0002c0002t0140 a0002c0002t0186 a0002c0002t0188 a0002c0002t0261 a0002c0003t0036 a0002c0003t0061 a0002c0003t0158 a0002c0003t0159 a0002c0003t0233 a0002c0010t0072 a0002c0010t0172 a0002c0019t0066 a0005c0008t0002 a0012c0017t0145	a0001c0001t0001g0123 a0001c0001t0002g0052 a0001c0001t0034g0170 others(43): Show a0001c0001t0001g0123 a0001c0001t0002g0052 a0001c0001t0034g0170 a0001c0001t0042g0178 a0001c0001t0049g0080 a0001c0001t0054g0348 a0001c0001t0068g0044 a0001c0001t0081g0174 a0001c0001t0096g0173 a0001c0001t0100g0014 a0001c0001t0114g0155 a0001c0001t0119g0039 a0001c0001t0127g0124 a0001c0001t0130g0181 a0001c0001t0157g0056 a0001c0001t0163g0177 a0001c0001t0168g0171 a0001c0001t0170g0219 a0001c0001t0180g0082 a0001c0001t0183g0176 a0001c0001t0184g0189 a0001c0001t0201g0175 a0001c0001t0202g0122 a0001c0001t0205g0103 a0001c0001t0248g0073 a0002c0002t0008g0267 a0002c0002t0024g0335 a0002c0002t0025g0317 a0002c0002t0027g0286 a0002c0002t0073g0270 a0002c0002t0094g0260 a0002c0002t0122g0334 a0002c0002t0140g0259 a0002c0002t0186g0295 a0002c0002t0188g0303 a0002c0002t0261g0299 a0002c0003t0036g0070 a0002c0003t0061g0363 a0002c0003t0158g0250 a0002c0003t0159g0251 a0002c0003t0233g0256 a0002c0010t0072g0263 a0002c0010t0172g0264 a0002c0019t0066g0355 a0005c0008t0002g0118 a0012c0017t0145g0216	46	372	0.1237	-8	c.517 others(25): Show c.517-5123_517-5116delGTGTGTGT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12628032	CGTGTGTG others(1): Show CGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01433.hp1 HG03834.hp2 others(1): Show HG00099.hp1 HG01433.hp1 HG03834.hp2 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0125 a0001c0001t0262 a0002c0002t0001 others(1): Show a0001c0001t0125 a0001c0001t0262 a0002c0002t0001 a0002c0002t0258	a0001c0001t0125g0163 a0001c0001t0262g0012 a0002c0002t0001g0253 others(1): Show a0001c0001t0125g0163 a0001c0001t0262g0012 a0002c0002t0001g0253 a0002c0002t0258g0252	4	372	0.0108	-8	c.119 others(27): Show c.1198-1042_1198-1035delGTGTGTGT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCLT1_chr4_128878993_129098539	128894363	AACACACA others(1): Show AACACACAC	A A	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18974.hp2 NA18997.hp1 NA18948.hp2 NA18974.hp2 NA18997.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0003 a0003c0005 a0001c0004 a0002c0003 a0003c0005	a0001c0004t0001 a0002c0003t0001 a0003c0005t0001 a0001c0004t0001 a0002c0003t0001 a0003c0005t0001	a0001c0004t0001g0029 a0002c0003t0001g0208 a0003c0005t0001g0160 a0001c0004t0001g0029 a0002c0003t0001g0208 a0003c0005t0001g0160	3	288	0.0104	-8	c.183 others(27): Show c.1830-3234_1830-3227delGTGTGTGT	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	18/20			chr4	TogoVar
SCLT1_chr4_128878993_129098539	129039900	GCACACAC others(1): Show GCACACACA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18522.hp1 NA19240.hp2 others(1): Show HG02280.hp2 NA18522.hp1 NA19240.hp2 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0001c0011 a0006c0012 a0001c0002 a0001c0011 a0006c0012	a0001c0002t0001 a0001c0011t0010 a0006c0012t0001 a0001c0002t0001 a0001c0011t0010 a0006c0012t0001	a0001c0002t0001g0055 a0001c0002t0001g0060 a0001c0011t0010g0284 others(1): Show a0001c0002t0001g0055 a0001c0002t0001g0060 a0001c0011t0010g0284 a0006c0012t0001g0033	4	288	0.0139	-8	c.235 others(23): Show c.235-812_235-805delTGTGTGTG	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	4/20			chr4	TogoVar
SCLT1_chr4_128878993_129098539	129086313	GTATATAT others(1): Show GTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(179): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp2 HG02602.hp2 HG02630.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0011 a0002c0003 a0002c0006 a0002c0007 a0002c0009 a0003c0005 a0004c0014 a0005c0013	a0001c0001t0001 a0001c0002t0001 a0001c0002t0007 others(11): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0007 a0001c0004t0001 a0001c0008t0001 a0001c0011t0010 a0002c0003t0001 a0002c0003t0002 a0002c0006t0001 a0002c0007t0001 a0002c0009t0001 a0003c0005t0001 a0004c0014t0002 a0005c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(176): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0123 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0007g0277 a0001c0004t0001g0037 a0001c0004t0001g0109 a0001c0004t0001g0110 a0001c0004t0001g0111 a0001c0004t0001g0112 a0001c0004t0001g0113 a0001c0004t0001g0114 a0001c0004t0001g0116 a0001c0004t0001g0117 a0001c0004t0001g0118 a0001c0004t0001g0119 a0001c0008t0001g0198 a0001c0008t0001g0214 a0001c0011t0010g0284 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0124 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0128 a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0136 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0143 a0002c0003t0001g0144 a0002c0003t0001g0145 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0152 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0156 a0002c0003t0001g0157 a0002c0003t0001g0158 a0002c0003t0001g0159 a0002c0003t0001g0162 a0002c0003t0001g0163 a0002c0003t0001g0164 a0002c0003t0001g0165 a0002c0003t0001g0166 a0002c0003t0001g0167 a0002c0003t0001g0168 a0002c0003t0001g0169 a0002c0003t0001g0170 a0002c0003t0001g0171 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0176 a0002c0003t0001g0177 a0002c0003t0001g0179 a0002c0003t0001g0180 a0002c0003t0001g0181 a0002c0003t0001g0199 a0002c0003t0001g0208 a0002c0003t0002g0008 a0002c0003t0002g0009 a0002c0003t0002g0010 a0002c0003t0002g0011 a0002c0003t0002g0012 a0002c0003t0002g0013 a0002c0003t0002g0014 a0002c0003t0002g0015 a0002c0006t0001g0182 a0002c0006t0001g0183 a0002c0007t0001g0115 a0002c0009t0001g0184 a0003c0005t0001g0141 a0003c0005t0001g0142 a0003c0005t0001g0149 a0003c0005t0001g0150 a0003c0005t0001g0151 a0003c0005t0001g0153 a0003c0005t0001g0160 a0003c0005t0001g0161 a0003c0005t0001g0174 a0003c0005t0001g0175 a0004c0014t0002g0007 a0005c0013t0001g0211	182	288	0.6319	-8	c.35- others(23): Show c.35-3948_35-3941delTATATATA	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	1/20			chr4	TogoVar
SCMH1_chr1_41022202_41247306	41073618	TCATCCAT others(1): Show TCATCCATC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02280.hp2 HG02559.hp1 HG01168.hp1 HG02280.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0003g0114 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0003g0114	3	304	0.0099	-8	c.978 others(25): Show c.978+1593_978+1600delGATGGATG	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	9/15			chr1	TogoVar
SCMH1_chr1_41022202_41247306	41073680	ACCTACCC others(1): Show ACCTACCCT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02809.hp1 others(1): Show HG02055.hp1 HG02257.hp2 HG02809.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0176 others(1): Show a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0240	4	304	0.0132	-8	c.978 others(25): Show c.978+1531_978+1538delAGGGTAGG	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	9/15			chr1	TogoVar
SCML1_chrX_17732493_17759985	17737422	GCCCCCCC others(1): Show GCCCCCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01109.hp1 HG01433.hp1 others(18): Show HG00673.hp1 HG01109.hp1 HG01433.hp1 HG01515.hp1 HG02055.hp1 HG02080.hp2 HG02109.hp2 HG02148.hp1 HG02559.hp2 HG02886.hp1 HG02976.hp2 HG04199.hp1 NA18612.hp1 NA18997.hp1 NA18997.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19070.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0002g0002 a0001c0001t0003g0068 a0001c0001t0003g0075 a0001c0001t0005g0069 a0001c0001t0008g0001 a0003c0003t0001g0002	21	281	0.0747	-8	c.-37 others(17): Show c.-374_-367delCCCCCCCC	SCML1	ENSG00000047634.15	transcript	ENST00000380041.8	protein_coding		70		chrX	TogoVar
SCML1_chrX_17732493_17759985	17745828	GTCAGTTT others(1): Show GTCAGTTTT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	281	0.0036	-8	c.118 others(23): Show c.118-186_118-179delGTTTTTCA	SCML1	ENSG00000047634.15	transcript	ENST00000380041.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SCML2_chrX_18234313_18359688	18264431	TTGTGTGT others(1): Show TTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02132.hp1 HG02622.hp2 others(6): Show HG01884.hp1 HG02132.hp1 HG02622.hp2 HG02886.hp2 HG02895.hp1 HG03130.hp1 HG03579.hp1 NA18943.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0100 a0001c0001t0001g0111 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0100 a0001c0001t0001g0111 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0203 a0001c0004t0001g0006	9	247	0.0364	-8	c.948 others(25): Show c.948+1146_948+1153delCACACACA	SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	8/14			chrX	TogoVar
SCML2_chrX_18234313_18359688	18313000	TGTGTGTG others(1): Show TGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	247	0.0041	-8	c.486 others(25): Show c.486+7324_486+7331delGCACACAC	SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	6/14			chrX	TogoVar
SCML4_chr6_107697154_107829313	107751572	ATCTTTCT others(1): Show ATCTTTCTT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00735.hp2 HG01081.hp2 others(27): Show HG00544.hp2 HG00735.hp2 HG01081.hp2 HG01169.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02451.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02738.hp1 HG02896.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03492.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 NA18522.hp2 NA18992.hp1 NA20752.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0002c0006 a0002c0007 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0019 a0001c0002t0005 a0001c0002t0010 a0001c0003t0007 a0001c0003t0012 a0001c0005t0011 a0001c0008t0001 a0001c0008t0008 a0002c0006t0005 a0002c0006t0009 a0002c0007t0007 a0004c0013t0006	a0001c0001t0001g0117 a0001c0001t0001g0159 a0001c0001t0002g0187 others(27): Show a0001c0001t0001g0117 a0001c0001t0001g0159 a0001c0001t0002g0187 a0001c0001t0002g0199 a0001c0001t0003g0036 a0001c0001t0004g0110 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0006g0077 a0001c0001t0008g0244 a0001c0001t0014g0125 a0001c0001t0019g0075 a0001c0001t0019g0137 a0001c0002t0005g0197 a0001c0002t0010g0008 a0001c0002t0010g0129 a0001c0003t0007g0100 a0001c0003t0012g0107 a0001c0003t0012g0131 a0001c0003t0012g0135 a0001c0005t0011g0081 a0001c0008t0001g0003 a0001c0008t0001g0069 a0001c0008t0008g0111 a0002c0006t0005g0179 a0002c0006t0009g0016 a0002c0006t0009g0023 a0002c0007t0007g0033 a0002c0007t0007g0035 a0004c0013t0006g0037	30	250	0.1200	-8	c.157 others(25): Show c.157-1767_157-1760delAAGAAAGA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	2/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107787396	TCACTCAG others(1): Show TCACTCAGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG02886.hp2 others(2): Show HG01891.hp2 HG02280.hp1 HG02886.hp2 HG03041.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0011 a0001c0001 a0001c0008 a0001c0011	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0008t0001 a0001c0011t0001	a0001c0001t0001g0070 a0001c0001t0006g0071 a0001c0001t0013g0068 others(2): Show a0001c0001t0001g0070 a0001c0001t0006g0071 a0001c0001t0013g0068 a0001c0008t0001g0069 a0001c0011t0001g0072	5	250	0.0200	-8	c.-59 others(27): Show c.-59-15018_-59-15011delGCTGAGTG	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107802576	GAGGGAGG others(1): Show GAGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01099.hp1 HG02572.hp1 others(10): Show HG00438.hp2 HG01099.hp1 HG02572.hp1 NA18951.hp1 NA18957.hp2 NA18971.hp1 NA18973.hp2 NA18985.hp2 NA18992.hp1 NA19056.hp2 NA19062.hp2 NA19090.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0002c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0002t0009 a0001c0003t0016 a0001c0005t0005 a0001c0005t0011 a0001c0005t0030 a0001c0009t0006 a0002c0007t0007	a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0004g0054 others(10): Show a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0004g0054 a0001c0001t0006g0053 a0001c0002t0009g0078 a0001c0003t0016g0007 a0001c0003t0016g0052 a0001c0005t0005g0181 a0001c0005t0011g0081 a0001c0005t0030g0079 a0001c0009t0006g0066 a0002c0007t0007g0018 a0002c0007t0007g0035	13	250	0.0520	-8	c.-60 others(27): Show c.-60+21542_-60+21549delTCCTCCCT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107813417	TATATATA others(1): Show TATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02257.hp1 HG02451.hp1 others(7): Show HG02165.hp2 HG02257.hp1 HG02451.hp1 HG02895.hp2 HG03130.hp2 HG03139.hp2 NA18942.hp2 NA18948.hp2 NA18992.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0002c0004 a0002c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0027 a0001c0002t0005 a0001c0002t0008 a0001c0008t0001 a0002c0004t0014 a0002c0007t0007	a0001c0001t0002g0214 a0001c0001t0004g0215 a0001c0001t0006g0157 others(7): Show a0001c0001t0002g0214 a0001c0001t0004g0215 a0001c0001t0006g0157 a0001c0001t0027g0143 a0001c0002t0005g0174 a0001c0002t0005g0216 a0001c0002t0008g0145 a0001c0008t0001g0003 a0002c0004t0014g0019 a0002c0007t0007g0033	10	250	0.0400	-8	c.-60 others(27): Show c.-60+10701_-60+10708delTTATATAT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107824462	CTGTGTGT others(1): Show CTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00639.hp2 HG00642.hp2 others(43): Show HG00558.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01175.hp1 HG01358.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG02109.hp2 HG02129.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp2 HG02698.hp1 HG02738.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03130.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp1 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18945.hp1 NA18950.hp1 NA18965.hp2 NA18967.hp2 NA18992.hp2 NA19060.hp1 NA19062.hp1 NA19079.hp2 NA20300.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0012 a0002c0004 a0002c0006 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 a0001c0002t0010 a0001c0003t0007 a0001c0003t0012 a0001c0005t0017 a0001c0005t0018 a0001c0012t0002 a0002c0004t0002 a0002c0004t0004 a0002c0006t0009 a0002c0007t0007	a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0147 others(43): Show a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0002g0178 a0001c0001t0002g0202 a0001c0001t0002g0211 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0003g0026 a0001c0001t0004g0188 a0001c0001t0004g0215 a0001c0001t0004g0222 a0001c0001t0004g0233 a0001c0001t0006g0025 a0001c0001t0006g0157 a0001c0001t0008g0169 a0001c0001t0008g0176 a0001c0001t0008g0190 a0001c0001t0008g0244 a0001c0001t0027g0143 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0002g0247 a0001c0002t0005g0192 a0001c0002t0005g0209 a0001c0002t0005g0210 a0001c0002t0005g0245 a0001c0002t0005g0248 a0001c0002t0009g0104 a0001c0002t0010g0148 a0001c0003t0007g0047 a0001c0003t0012g0130 a0001c0003t0012g0132 a0001c0003t0012g0136 a0001c0005t0017g0224 a0001c0005t0018g0212 a0001c0012t0002g0227 a0001c0012t0002g0228 a0002c0004t0002g0237 a0002c0004t0004g0225 a0002c0006t0009g0032 a0002c0007t0007g0040	46	250	0.1840	-8	c.-40 others(17): Show c.-404_-397delCACACACA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding		150		chr6	TogoVar
SCN10A_chr3_38691807_38821217	38736361	CTGTGTGT others(1): Show CTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18953.hp2 NA18991.hp2 others(2): Show HG01261.hp1 NA18953.hp2 NA18991.hp2 NA19240.hp1 NA21309.hp1	a0004 a0005 a0004 a0005	a0004c0005 a0004c0063 a0005c0011 others(1): Show a0004c0005 a0004c0063 a0005c0011 a0005c0025	a0004c0005t0001 a0004c0063t0001 a0005c0011t0001 others(1): Show a0004c0005t0001 a0004c0063t0001 a0005c0011t0001 a0005c0025t0001	a0004c0005t0001g0170 a0004c0063t0001g0314 a0005c0011t0001g0141 others(2): Show a0004c0005t0001g0170 a0004c0063t0001g0314 a0005c0011t0001g0141 a0005c0011t0001g0142 a0005c0025t0001g0305	5	372	0.0134	-8	c.228 others(27): Show c.2280+3146_2280+3153delCACACACA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38737765	CCTCCCTC others(1): Show CCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00673.hp1 others(28): Show HG00639.hp1 HG00642.hp1 HG00673.hp1 HG01070.hp2 HG01071.hp2 HG01934.hp1 HG01981.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02300.hp2 HG02809.hp1 HG03654.hp2 HG03688.hp2 HG03942.hp1 NA18948.hp1 NA18954.hp2 NA18960.hp2 NA18969.hp2 NA18974.hp2 NA18975.hp2 NA18978.hp2 NA18984.hp1 NA19000.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19055.hp2 NA19090.hp2	a0001 a0007 a0016 others(1): Show a0001 a0007 a0016 a0018	a0001c0004 a0001c0031 a0001c0032 others(5): Show a0001c0004 a0001c0031 a0001c0032 a0001c0057 a0007c0049 a0007c0056 a0016c0059 a0018c0058	a0001c0004t0001 a0001c0004t0006 a0001c0031t0002 others(6): Show a0001c0004t0001 a0001c0004t0006 a0001c0031t0002 a0001c0032t0001 a0001c0057t0001 a0007c0049t0001 a0007c0056t0001 a0016c0059t0001 a0018c0058t0001	a0001c0004t0001g0007 a0001c0004t0001g0009 a0001c0004t0001g0017 others(27): Show a0001c0004t0001g0007 a0001c0004t0001g0009 a0001c0004t0001g0017 a0001c0004t0001g0027 a0001c0004t0001g0028 a0001c0004t0001g0029 a0001c0004t0001g0030 a0001c0004t0001g0032 a0001c0004t0001g0058 a0001c0004t0001g0121 a0001c0004t0001g0312 a0001c0004t0001g0335 a0001c0004t0001g0338 a0001c0004t0001g0341 a0001c0004t0001g0351 a0001c0004t0001g0352 a0001c0004t0001g0354 a0001c0004t0001g0355 a0001c0004t0001g0356 a0001c0004t0001g0357 a0001c0004t0001g0361 a0001c0004t0006g0337 a0001c0031t0002g0002 a0001c0032t0001g0363 a0001c0032t0001g0370 a0001c0057t0001g0362 a0007c0049t0001g0047 a0007c0056t0001g0008 a0016c0059t0001g0353 a0018c0058t0001g0301	31	372	0.0833	-8	c.228 others(27): Show c.2280+1742_2280+1749delAGAGGGAG	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38741289	AACACACA others(1): Show AACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00673.hp1 others(33): Show HG00639.hp1 HG00642.hp1 HG00673.hp1 HG01070.hp2 HG01071.hp2 HG01934.hp1 HG01981.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02080.hp1 HG02300.hp2 HG02622.hp2 HG02717.hp1 HG02809.hp1 HG03041.hp1 HG03225.hp2 HG03486.hp1 HG03654.hp2 HG03688.hp2 NA18948.hp1 NA18954.hp2 NA18960.hp2 NA18969.hp2 NA18974.hp2 NA18975.hp2 NA18978.hp2 NA18984.hp1 NA19000.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19055.hp2 NA19090.hp2	a0001 a0007 a0016 others(1): Show a0001 a0007 a0016 a0018	a0001c0003 a0001c0004 a0001c0031 others(6): Show a0001c0003 a0001c0004 a0001c0031 a0001c0032 a0001c0057 a0007c0049 a0007c0056 a0016c0059 a0018c0058	a0001c0003t0002 a0001c0004t0001 a0001c0004t0006 others(7): Show a0001c0003t0002 a0001c0004t0001 a0001c0004t0006 a0001c0031t0002 a0001c0032t0001 a0001c0057t0001 a0007c0049t0001 a0007c0056t0001 a0016c0059t0001 a0018c0058t0001	a0001c0003t0002g0251 a0001c0004t0001g0007 a0001c0004t0001g0009 others(32): Show a0001c0003t0002g0251 a0001c0004t0001g0007 a0001c0004t0001g0009 a0001c0004t0001g0017 a0001c0004t0001g0027 a0001c0004t0001g0028 a0001c0004t0001g0029 a0001c0004t0001g0030 a0001c0004t0001g0032 a0001c0004t0001g0058 a0001c0004t0001g0082 a0001c0004t0001g0101 a0001c0004t0001g0105 a0001c0004t0001g0110 a0001c0004t0001g0111 a0001c0004t0001g0121 a0001c0004t0001g0312 a0001c0004t0001g0335 a0001c0004t0001g0338 a0001c0004t0001g0341 a0001c0004t0001g0351 a0001c0004t0001g0352 a0001c0004t0001g0354 a0001c0004t0001g0355 a0001c0004t0001g0356 a0001c0004t0001g0357 a0001c0004t0001g0361 a0001c0004t0006g0337 a0001c0031t0002g0002 a0001c0032t0001g0370 a0001c0057t0001g0362 a0007c0049t0001g0047 a0007c0056t0001g0008 a0016c0059t0001g0353 a0018c0058t0001g0301	36	372	0.0968	-8	c.210 others(26): Show c.2106+994_2106+1001delGTGTGTGT	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	14/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38743249	CCTGGTAT others(1): Show CCTGGTATT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00597.hp1 others(53): Show HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG01081.hp2 HG01169.hp1 HG01255.hp2 HG01261.hp1 HG02027.hp1 HG02080.hp2 HG02129.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02818.hp1 HG02970.hp2 HG03098.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18947.hp1 NA18948.hp2 NA18952.hp1 NA18953.hp2 NA18961.hp1 NA18964.hp1 NA18965.hp2 NA18970.hp2 NA18972.hp2 NA18974.hp1 NA18982.hp1 NA18987.hp1 NA18987.hp2 NA18991.hp2 NA19005.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp2 NA19058.hp2 NA19064.hp1 NA19065.hp2 NA19080.hp2 NA19087.hp2 NA19088.hp2 NA19240.hp1 NA21309.hp1	a0002 a0004 a0005 others(4): Show a0002 a0004 a0005 a0006 a0015 a0030 a0031	a0002c0001 a0004c0005 a0004c0020 others(11): Show a0002c0001 a0004c0005 a0004c0020 a0004c0033 a0004c0062 a0004c0063 a0005c0009 a0005c0011 a0005c0013 a0005c0025 a0006c0016 a0015c0046 a0030c0061 a0031c0064	a0002c0001t0001 a0004c0005t0001 a0004c0020t0001 others(14): Show a0002c0001t0001 a0004c0005t0001 a0004c0020t0001 a0004c0020t0002 a0004c0033t0001 a0004c0062t0001 a0004c0063t0001 a0005c0009t0001 a0005c0009t0002 a0005c0009t0003 a0005c0011t0001 a0005c0013t0001 a0005c0025t0001 a0006c0016t0001 a0015c0046t0001 a0030c0061t0001 a0031c0064t0001	a0002c0001t0001g0063 a0004c0005t0001g0021 a0004c0005t0001g0067 others(53): Show a0002c0001t0001g0063 a0004c0005t0001g0021 a0004c0005t0001g0067 a0004c0005t0001g0068 a0004c0005t0001g0069 a0004c0005t0001g0070 a0004c0005t0001g0073 a0004c0005t0001g0168 a0004c0005t0001g0170 a0004c0005t0001g0172 a0004c0005t0001g0174 a0004c0005t0001g0175 a0004c0005t0001g0186 a0004c0005t0001g0192 a0004c0005t0001g0212 a0004c0005t0001g0213 a0004c0005t0001g0214 a0004c0005t0001g0215 a0004c0005t0001g0216 a0004c0005t0001g0217 a0004c0005t0001g0218 a0004c0005t0001g0323 a0004c0020t0001g0167 a0004c0020t0002g0171 a0004c0020t0002g0176 a0004c0033t0001g0165 a0004c0033t0001g0173 a0004c0062t0001g0242 a0004c0063t0001g0314 a0005c0009t0001g0055 a0005c0009t0002g0044 a0005c0009t0002g0059 a0005c0009t0002g0104 a0005c0009t0002g0149 a0005c0009t0002g0150 a0005c0009t0002g0152 a0005c0009t0002g0153 a0005c0009t0003g0003 a0005c0011t0001g0045 a0005c0011t0001g0052 a0005c0011t0001g0087 a0005c0011t0001g0141 a0005c0011t0001g0142 a0005c0011t0001g0145 a0005c0013t0001g0060 a0005c0013t0001g0074 a0005c0013t0001g0076 a0005c0013t0001g0079 a0005c0025t0001g0304 a0005c0025t0001g0305 a0006c0016t0001g0031 a0006c0016t0001g0051 a0006c0016t0001g0053 a0015c0046t0001g0046 a0030c0061t0001g0211 a0031c0064t0001g0237	56	372	0.1505	-8	c.186 others(25): Show c.1868-728_1868-721delAATACCAG	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38761837	TGAGAGAG others(1): Show TGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00673.hp1 others(39): Show HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01123.hp1 HG01256.hp1 HG01516.hp2 HG01517.hp1 HG01981.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02300.hp2 HG02622.hp2 HG02717.hp1 HG03041.hp1 HG03239.hp1 HG03486.hp1 HG03491.hp2 HG03654.hp2 HG03688.hp2 HG03942.hp1 NA18948.hp1 NA18954.hp2 NA18960.hp2 NA18969.hp2 NA18974.hp2 NA18975.hp2 NA18978.hp2 NA18984.hp1 NA19000.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19055.hp2 NA19090.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 others(3): Show a0001 a0003 a0007 a0009 a0016 a0018	a0001c0004 a0001c0008 a0001c0031 others(7): Show a0001c0004 a0001c0008 a0001c0031 a0001c0032 a0001c0057 a0003c0002 a0007c0056 a0009c0022 a0016c0059 a0018c0058	a0001c0004t0001 a0001c0004t0006 a0001c0008t0001 others(8): Show a0001c0004t0001 a0001c0004t0006 a0001c0008t0001 a0001c0031t0002 a0001c0032t0001 a0001c0057t0001 a0003c0002t0002 a0007c0056t0001 a0009c0022t0001 a0016c0059t0001 a0018c0058t0001	a0001c0004t0001g0007 a0001c0004t0001g0009 a0001c0004t0001g0017 others(38): Show a0001c0004t0001g0007 a0001c0004t0001g0009 a0001c0004t0001g0017 a0001c0004t0001g0027 a0001c0004t0001g0028 a0001c0004t0001g0029 a0001c0004t0001g0030 a0001c0004t0001g0032 a0001c0004t0001g0082 a0001c0004t0001g0101 a0001c0004t0001g0110 a0001c0004t0001g0111 a0001c0004t0001g0312 a0001c0004t0001g0335 a0001c0004t0001g0338 a0001c0004t0001g0341 a0001c0004t0001g0351 a0001c0004t0001g0352 a0001c0004t0001g0354 a0001c0004t0001g0355 a0001c0004t0001g0356 a0001c0004t0001g0357 a0001c0004t0001g0361 a0001c0004t0006g0337 a0001c0008t0001g0360 a0001c0031t0002g0002 a0001c0032t0001g0363 a0001c0032t0001g0370 a0001c0057t0001g0362 a0003c0002t0002g0248 a0003c0002t0002g0308 a0003c0002t0002g0309 a0003c0002t0002g0340 a0003c0002t0002g0342 a0003c0002t0002g0343 a0003c0002t0002g0350 a0007c0056t0001g0008 a0009c0022t0001g0358 a0009c0022t0001g0359 a0016c0059t0001g0353 a0018c0058t0001g0301	42	372	0.1129	-8	c.692 others(23): Show c.692-462_692-455delTCTCTCTC	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	6/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38772718	CAACAACA others(1): Show CAACAACAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02622.hp1 others(1): Show HG01109.hp1 HG01884.hp1 HG02622.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0012 a0001c0003 a0002c0012	a0001c0003t0002 a0002c0012t0001 a0001c0003t0002 a0002c0012t0001	a0001c0003t0002g0098 a0001c0003t0002g0099 a0001c0003t0002g0131 others(1): Show a0001c0003t0002g0098 a0001c0003t0002g0099 a0001c0003t0002g0131 a0002c0012t0001g0094	4	372	0.0108	-8	c.471 others(25): Show c.471-1319_471-1312delTTGTTGTT	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	4/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38772722	AACAAAAA others(1): Show AACAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03195.hp2 HG03225.hp1 HG02922.hp2 HG03195.hp2 HG03225.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0364 a0001c0007t0001g0365 a0001c0007t0001g0366 a0001c0007t0001g0364 a0001c0007t0001g0365 a0001c0007t0001g0366	3	372	0.0081	-8	c.471 others(25): Show c.471-1323_471-1316delGTTTTTGT	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	4/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38907310	ATGTGTGT others(1): Show ATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00558.hp2 others(46): Show HG00280.hp2 HG00323.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG01175.hp2 HG01243.hp2 HG01257.hp2 HG01981.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02486.hp2 HG02602.hp2 HG02735.hp2 HG02738.hp1 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03239.hp1 HG03540.hp2 HG03654.hp1 HG04115.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18957.hp1 NA18959.hp2 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18975.hp2 NA18989.hp1 NA18993.hp2 NA18999.hp2 NA19010.hp1 NA19055.hp1 NA19060.hp1 NA19066.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0016 a0001c0005t0001	a0001c0001t0003g0283 a0001c0002t0001g0148 a0001c0002t0001g0149 others(46): Show a0001c0001t0003g0283 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0155 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0196 a0001c0002t0002g0156 a0001c0002t0004g0041 a0001c0002t0004g0045 a0001c0002t0016g0184 a0001c0005t0001g0248 a0001c0005t0001g0249 a0001c0005t0001g0254 a0001c0005t0001g0255 a0001c0005t0001g0256 a0001c0005t0001g0257	49	314	0.1561	-8	c.147 others(25): Show c.1473+631_1473+638delCACACACA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	14/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38907357	TACACACA others(1): Show TACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(139): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00733.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01517.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18957.hp2 NA18959.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18968.hp1 NA18975.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19010.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009	a0001c0001 a0001c0015 a0001c0020 others(7): Show a0001c0001 a0001c0015 a0001c0020 a0002c0003 a0003c0008 a0003c0010 a0004c0013 a0007c0021 a0008c0019 a0009c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0015t0003 a0001c0020t0002 a0002c0003t0001 a0002c0003t0003 a0002c0003t0008 a0003c0008t0001 a0003c0010t0009 a0004c0013t0001 a0007c0021t0003 a0008c0019t0002 a0009c0018t0002	a0001c0001t0001g0100 a0001c0001t0001g0131 a0001c0001t0001g0132 others(139): Show a0001c0001t0001g0100 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0207 a0001c0001t0001g0215 a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0038 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0289 a0001c0001t0017g0060 a0001c0001t0018g0096 a0001c0001t0019g0080 a0001c0001t0020g0264 a0001c0015t0003g0287 a0001c0015t0003g0288 a0001c0020t0002g0094 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0010 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0014 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0023 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0074 a0002c0003t0001g0091 a0002c0003t0001g0107 a0002c0003t0001g0125 a0002c0003t0003g0305 a0002c0003t0008g0005 a0002c0003t0008g0006 a0002c0003t0008g0024 a0003c0008t0001g0134 a0003c0008t0001g0135 a0003c0008t0001g0136 a0003c0008t0001g0139 a0003c0010t0009g0002 a0003c0010t0009g0003 a0004c0013t0001g0133 a0004c0013t0001g0141 a0007c0021t0003g0267 a0008c0019t0002g0101 a0009c0018t0002g0025	142	314	0.4522	-8	c.147 others(25): Show c.1473+584_1473+591delGTGTGTGT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	14/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938509	CATATATA others(1): Show CATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02129.hp1 NA18945.hp2 HG00140.hp1 HG02129.hp1 NA18945.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0002 a0001c0002t0001 a0003c0004t0001 a0001c0001t0002 a0001c0002t0001 a0003c0004t0001	a0001c0001t0002g0121 a0001c0002t0001g0157 a0003c0004t0001g0233 a0001c0001t0002g0121 a0001c0002t0001g0157 a0003c0004t0001g0233	3	314	0.0096	-8	c.488 others(25): Show c.488+6894_488+6901delATATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38963424	GATATATA others(1): Show GATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01516.hp2 HG01517.hp2 others(12): Show HG01192.hp1 HG01516.hp2 HG01517.hp2 HG02257.hp2 HG02280.hp1 HG02647.hp2 HG02723.hp1 HG02970.hp1 HG03239.hp2 HG03453.hp2 HG03831.hp1 HG06807.hp1 NA18981.hp2 NA18998.hp2 NA19068.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0003 a0001c0006t0006 a0001c0006t0001 a0001c0006t0003 a0001c0006t0006	a0001c0006t0001g0313 a0001c0006t0003g0290 a0001c0006t0003g0291 others(12): Show a0001c0006t0001g0313 a0001c0006t0003g0290 a0001c0006t0003g0291 a0001c0006t0003g0292 a0001c0006t0003g0298 a0001c0006t0003g0299 a0001c0006t0003g0308 a0001c0006t0003g0309 a0001c0006t0003g0310 a0001c0006t0006g0293 a0001c0006t0006g0294 a0001c0006t0006g0295 a0001c0006t0006g0296 a0001c0006t0006g0297 a0001c0006t0006g0307	15	314	0.0478	-8	c.-27 others(27): Show c.-279-3009_-279-3002delATATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38981537	TTGTGTGT others(1): Show TTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02258.hp1 HG02280.hp2 others(8): Show HG01934.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02630.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02976.hp2 HG03130.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0011 others(2): Show a0001c0002 a0001c0009 a0001c0011 a0001c0012 a0001c0016	a0001c0002t0004 a0001c0002t0014 a0001c0009t0007 others(3): Show a0001c0002t0004 a0001c0002t0014 a0001c0009t0007 a0001c0011t0011 a0001c0012t0001 a0001c0016t0001	a0001c0002t0004g0262 a0001c0002t0014g0199 a0001c0009t0007g0200 others(8): Show a0001c0002t0004g0262 a0001c0002t0014g0199 a0001c0009t0007g0200 a0001c0009t0007g0201 a0001c0009t0007g0202 a0001c0009t0007g0203 a0001c0011t0011g0258 a0001c0011t0011g0259 a0001c0012t0001g0260 a0001c0012t0001g0261 a0001c0016t0001g0263	11	314	0.0350	-8	c.-27 others(29): Show c.-279-21122_-279-21115delCACACACA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38987301	TCTCACAC others(1): Show TCTCACACA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03654.hp1 NA18950.hp1 HG02630.hp1 HG03654.hp1 NA18950.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0004 a0002c0003t0001 a0001c0002t0001 a0001c0002t0004 a0002c0003t0001	a0001c0002t0001g0165 a0001c0002t0004g0262 a0002c0003t0001g0008 a0001c0002t0001g0165 a0001c0002t0004g0262 a0002c0003t0001g0008	3	314	0.0096	-8	c.-27 others(29): Show c.-279-26886_-279-26879delTGTGTGAG	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38987303	TCACACAC others(1): Show TCACACACA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp2 HG01109.hp1 others(53): Show HG00642.hp1 HG01074.hp2 HG01109.hp1 HG01891.hp2 HG01978.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02145.hp2 HG02258.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03834.hp1 NA18940.hp2 NA18959.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18968.hp1 NA18980.hp2 NA18995.hp2 NA18998.hp1 NA19062.hp2 NA19068.hp1 NA19070.hp1 NA19080.hp1 NA19083.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0002 a0001c0015 others(3): Show a0001c0001 a0001c0002 a0001c0015 a0002c0003 a0003c0010 a0009c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 a0001c0002t0001 a0001c0015t0003 a0002c0003t0001 a0002c0003t0008 a0003c0010t0003 a0009c0018t0002	a0001c0001t0001g0215 a0001c0001t0002g0004 a0001c0001t0002g0017 others(53): Show a0001c0001t0001g0215 a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0289 a0001c0001t0003g0312 a0001c0001t0020g0264 a0001c0002t0001g0188 a0001c0015t0003g0287 a0001c0015t0003g0288 a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0003t0001g0010 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0014 a0002c0003t0001g0016 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0008g0005 a0002c0003t0008g0006 a0003c0010t0003g0268 a0009c0018t0002g0025	56	314	0.1783	-8	c.-27 others(29): Show c.-279-26888_-279-26881delTGTGTGTG	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	39025968	GACAAAAA others(1): Show GACAAAAAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG01081.hp1 others(5): Show HG00140.hp2 HG00323.hp1 HG01081.hp1 HG01243.hp1 HG01975.hp1 HG02055.hp1 HG02683.hp2 HG02698.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0008 a0004c0013 a0001c0001 a0003c0008 a0004c0013	a0001c0001t0002 a0003c0008t0001 a0004c0013t0001 a0001c0001t0002 a0003c0008t0001 a0004c0013t0001	a0001c0001t0002g0130 a0001c0001t0002g0137 a0001c0001t0002g0138 others(5): Show a0001c0001t0002g0130 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0140 a0003c0008t0001g0136 a0003c0008t0001g0139 a0004c0013t0001g0133 a0004c0013t0001g0141	8	314	0.0255	-8	c.-28 others(27): Show c.-280+6404_-280+6411delATTTTTGT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	165989028	CTGTGTGT others(1): Show CTGTGTGTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG02622.hp2 others(13): Show HG02257.hp2 HG02559.hp2 HG02622.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 NA18522.hp2 NA18960.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0002c0002 a0001c0001 a0001c0011 a0002c0002	a0001c0001t0006 a0001c0001t0021 a0001c0001t0061 others(2): Show a0001c0001t0006 a0001c0001t0021 a0001c0001t0061 a0001c0011t0006 a0002c0002t0076	a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0286 others(13): Show a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0286 a0001c0001t0006g0289 a0001c0001t0006g0290 a0001c0001t0006g0292 a0001c0001t0006g0296 a0001c0001t0006g0299 a0001c0001t0006g0331 a0001c0001t0006g0344 a0001c0001t0021g0157 a0001c0001t0021g0158 a0001c0001t0021g0162 a0001c0001t0061g0337 a0001c0011t0006g0298 a0002c0002t0076g0143	16	356	0.0449	-8	c.22 others(19): Show c.2209_*2216delCACACACA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	29/29	2209		chr2	TogoVar
SCN1A_chr2_165980813_166133020	165989061	TGTGTGTG others(1): Show TGTGTGTGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00609.hp2 others(24): Show HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00673.hp1 HG00735.hp2 HG01074.hp1 HG01106.hp1 HG01255.hp2 HG02055.hp2 HG02155.hp2 HG02258.hp2 HG02280.hp1 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp2 HG02976.hp1 HG03225.hp2 HG03540.hp1 NA18940.hp2 NA18953.hp2 NA18964.hp1 NA18994.hp1 NA19057.hp2 NA19062.hp2 NA19078.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0002c0017 others(1): Show a0001c0001 a0002c0002 a0002c0017 a0008c0016	a0001c0001t0017 a0001c0001t0019 a0001c0001t0047 others(6): Show a0001c0001t0017 a0001c0001t0019 a0001c0001t0047 a0001c0001t0073 a0002c0002t0009 a0002c0002t0015 a0002c0002t0030 a0002c0017t0042 a0008c0016t0042	a0001c0001t0017g0018 a0001c0001t0017g0028 a0001c0001t0017g0056 others(24): Show a0001c0001t0017g0018 a0001c0001t0017g0028 a0001c0001t0017g0056 a0001c0001t0017g0322 a0001c0001t0019g0035 a0001c0001t0019g0103 a0001c0001t0019g0150 a0001c0001t0019g0243 a0001c0001t0047g0007 a0001c0001t0073g0050 a0002c0002t0009g0304 a0002c0002t0009g0308 a0002c0002t0009g0309 a0002c0002t0009g0310 a0002c0002t0009g0311 a0002c0002t0009g0313 a0002c0002t0009g0351 a0002c0002t0015g0166 a0002c0002t0015g0330 a0002c0002t0015g0332 a0002c0002t0015g0333 a0002c0002t0015g0335 a0002c0002t0015g0336 a0002c0002t0030g0039 a0002c0002t0030g0316 a0002c0017t0042g0339 a0008c0016t0042g0340	27	356	0.0758	-8	c.21 others(19): Show c.2176_*2183delGCACACAC	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	29/29	2176		chr2	TogoVar
SCN1A_chr2_165980813_166133020	165993206	TGTGTGAG others(1): Show TGTGTGAGA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02486.hp2 HG02723.hp1 others(6): Show HG01496.hp2 HG02486.hp2 HG02723.hp1 HG02896.hp1 HG02922.hp2 HG03041.hp2 HG03225.hp1 HG03516.hp1 HG03579.hp2	a0001 a0010 a0001 a0010	a0001c0003 a0001c0010 a0010c0009 a0001c0003 a0001c0010 a0010c0009	a0001c0003t0020 a0001c0003t0034 a0001c0003t0087 others(3): Show a0001c0003t0020 a0001c0003t0034 a0001c0003t0087 a0001c0003t0088 a0001c0010t0045 a0010c0009t0045	a0001c0003t0020g0163 a0001c0003t0020g0342 a0001c0003t0020g0345 others(6): Show a0001c0003t0020g0163 a0001c0003t0020g0342 a0001c0003t0020g0345 a0001c0003t0034g0069 a0001c0003t0034g0070 a0001c0003t0087g0328 a0001c0003t0088g0312 a0001c0010t0045g0327 a0010c0009t0045g0250	9	356	0.0253	-8	c.485 others(25): Show c.4853-792_4853-785delTCTCACAC	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	28/28			chr2	TogoVar
SCN1A_chr2_165980813_166133020	165994650	AAAACAAA others(1): Show AAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00544.hp2 others(72): Show HG00140.hp1 HG00323.hp2 HG00544.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01168.hp1 HG01255.hp1 HG01261.hp2 HG01358.hp1 HG01884.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02293.hp1 HG02735.hp2 HG03017.hp1 HG03492.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18991.hp2 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp2 NA19006.hp2 NA19063.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19091.hp2 NA20905.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0008 a0001c0021 others(2): Show a0001c0001 a0001c0008 a0001c0021 a0001c0024 a0009c0022	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0001c0001t0022 a0001c0001t0049 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0092 a0001c0008t0003 a0001c0021t0003 a0001c0024t0003 a0009c0022t0013	a0001c0001t0002g0105 a0001c0001t0003g0013 a0001c0001t0003g0094 others(71): Show a0001c0001t0002g0105 a0001c0001t0003g0013 a0001c0001t0003g0094 a0001c0001t0003g0122 a0001c0001t0003g0175 a0001c0001t0003g0179 a0001c0001t0003g0183 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0204 a0001c0001t0003g0208 a0001c0001t0003g0212 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0242 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0277 a0001c0001t0003g0294 a0001c0001t0005g0170 a0001c0001t0005g0185 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0196 a0001c0001t0005g0211 a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0217 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0005g0228 a0001c0001t0005g0230 a0001c0001t0005g0300 a0001c0001t0008g0001 a0001c0001t0008g0180 a0001c0001t0008g0202 a0001c0001t0008g0205 a0001c0001t0008g0206 a0001c0001t0008g0207 a0001c0001t0008g0223 a0001c0001t0008g0233 a0001c0001t0013g0173 a0001c0001t0013g0174 a0001c0001t0013g0182 a0001c0001t0013g0215 a0001c0001t0013g0295 a0001c0001t0016g0177 a0001c0001t0016g0210 a0001c0001t0016g0229 a0001c0001t0016g0235 a0001c0001t0016g0267 a0001c0001t0022g0209 a0001c0001t0022g0216 a0001c0001t0022g0244 a0001c0001t0049g0291 a0001c0001t0058g0297 a0001c0001t0059g0247 a0001c0001t0060g0350 a0001c0001t0092g0354 a0001c0008t0003g0061 a0001c0008t0003g0225 a0001c0021t0003g0191 a0001c0024t0003g0014 a0009c0022t0013g0172	75	356	0.2107	-8	c.458 others(25): Show c.4582-242_4582-235delGTTTGTTT	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	27/28			chr2	TogoVar
SCN1A_chr2_165980813_166133020	166054006	AAAGGAAA others(1): Show AAAGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(82): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02155.hp1 HG02257.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG03942.hp1 HG04228.hp2 NA18522.hp2 NA18944.hp2 NA18947.hp2 NA18951.hp2 NA18959.hp2 NA18962.hp2 NA18972.hp2 NA18973.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19007.hp2 NA19009.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19074.hp1 NA19079.hp1 NA19081.hp1 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0001c0011 others(1): Show a0001c0001 a0001c0006 a0001c0011 a0004c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0019 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0049 a0001c0001t0061 a0001c0001t0070 a0001c0001t0072 a0001c0001t0073 a0001c0001t0086 a0001c0006t0041 a0001c0011t0006 a0004c0020t0040	a0001c0001t0001g0124 a0001c0001t0001g0147 a0001c0001t0002g0002 others(81): Show a0001c0001t0001g0124 a0001c0001t0001g0147 a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0026 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0138 a0001c0001t0002g0154 a0001c0001t0002g0168 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0268 a0001c0001t0002g0274 a0001c0001t0002g0320 a0001c0001t0002g0348 a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0286 a0001c0001t0006g0289 a0001c0001t0006g0290 a0001c0001t0006g0292 a0001c0001t0006g0296 a0001c0001t0006g0299 a0001c0001t0006g0331 a0001c0001t0006g0344 a0001c0001t0019g0103 a0001c0001t0019g0150 a0001c0001t0019g0243 a0001c0001t0021g0157 a0001c0001t0021g0158 a0001c0001t0021g0162 a0001c0001t0025g0073 a0001c0001t0025g0087 a0001c0001t0025g0088 a0001c0001t0026g0080 a0001c0001t0026g0081 a0001c0001t0036g0284 a0001c0001t0036g0285 a0001c0001t0038g0156 a0001c0001t0038g0222 a0001c0001t0039g0128 a0001c0001t0039g0255 a0001c0001t0040g0321 a0001c0001t0049g0291 a0001c0001t0061g0337 a0001c0001t0070g0074 a0001c0001t0072g0318 a0001c0001t0073g0050 a0001c0001t0086g0107 a0001c0006t0041g0095 a0001c0006t0041g0248 a0001c0011t0006g0298 a0004c0020t0040g0135	85	356	0.2388	-8	c.602 others(23): Show c.602+624_602+631delCTTTCCTT	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	7/28			chr2	TogoVar
SCN1A_chr2_165980813_166133020	166103449	TTAAATAA others(1): Show TTAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02257.hp1 HG03041.hp2 others(3): Show HG01123.hp2 HG02257.hp1 HG03041.hp2 HG06807.hp2 NA19043.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0014	a0001c0001t0031 a0001c0003t0087 a0002c0002t0010 others(1): Show a0001c0001t0031 a0001c0003t0087 a0002c0002t0010 a0002c0014t0078	a0001c0001t0031g0346 a0001c0001t0031g0347 a0001c0003t0087g0328 others(3): Show a0001c0001t0031g0346 a0001c0001t0031g0347 a0001c0003t0087g0328 a0002c0002t0010g0325 a0002c0002t0010g0326 a0002c0014t0078g0319	6	356	0.0169	-8	c.-14 others(29): Show c.-142+23467_-142+23474delTTTATTTA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28			chr2	TogoVar
SCN1A_chr2_165980813_166133020	166120596	CTTTTTTT others(1): Show CTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00423.hp1 others(55): Show HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00735.hp1 HG00741.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01261.hp1 HG02027.hp1 HG02027.hp2 HG02074.hp2 HG02080.hp1 HG02523.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02735.hp1 HG02809.hp1 HG03017.hp2 HG03704.hp2 HG03942.hp1 HG04228.hp2 HG06807.hp1 NA18940.hp1 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18962.hp2 NA18972.hp1 NA18973.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18989.hp1 NA18991.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19009.hp1 NA19054.hp2 NA19056.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19079.hp1 NA19081.hp1 NA19085.hp1 NA19090.hp1 NA19091.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0002c0002 a0004c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0019 a0001c0001t0022 a0001c0001t0025 a0001c0001t0039 a0001c0001t0064 a0001c0001t0070 a0001c0001t0082 a0001c0001t0086 a0001c0004t0032 a0001c0006t0041 a0002c0002t0007 a0004c0020t0040	a0001c0001t0001g0124 a0001c0001t0002g0002 a0001c0001t0002g0085 others(54): Show a0001c0001t0001g0124 a0001c0001t0002g0002 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0168 a0001c0001t0002g0348 a0001c0001t0003g0094 a0001c0001t0003g0122 a0001c0001t0004g0121 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0014g0125 a0001c0001t0019g0103 a0001c0001t0019g0243 a0001c0001t0022g0244 a0001c0001t0025g0073 a0001c0001t0025g0087 a0001c0001t0025g0088 a0001c0001t0039g0128 a0001c0001t0064g0106 a0001c0001t0070g0074 a0001c0001t0082g0104 a0001c0001t0086g0107 a0001c0004t0032g0089 a0001c0006t0041g0095 a0002c0002t0007g0092 a0004c0020t0040g0135	58	356	0.1629	-8	c.-14 others(27): Show c.-142+6320_-142+6327delAAAAAAAA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165265471	CTATATAT others(1): Show CTATATATA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01256.hp2 HG01515.hp2 others(7): Show HG01106.hp2 HG01256.hp2 HG01515.hp2 HG01517.hp1 HG02015.hp2 HG02895.hp1 HG02897.hp1 HG03669.hp1 NA18944.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0017 a0002c0003	a0001c0001t0002 a0001c0002t0001 a0001c0004t0004 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0004t0004 a0001c0017t0001 a0002c0003t0001	a0001c0001t0002g0193 a0001c0001t0002g0266 a0001c0001t0002g0267 others(7): Show a0001c0001t0002g0193 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0300 a0001c0002t0001g0130 a0001c0004t0004g0226 a0001c0004t0004g0283 a0001c0004t0004g0284 a0001c0017t0001g0196 a0002c0003t0001g0316	10	358	0.0279	-8	c.-52 others(27): Show c.-52+25869_-52+25876delATATATAT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291345	GTCGTTCG others(1): Show GTCGTTCGT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02559.hp1 others(1): Show HG02280.hp1 HG02451.hp2 HG02559.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0325 others(1): Show a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0325 a0001c0001t0013g0040	4	358	0.0112	-8	c.-51 others(25): Show c.-51-4425_-51-4418delGTTCGTTC	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291348	GTTCGTTC others(1): Show GTTCGTTCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00733.hp2 others(64): Show HG00099.hp1 HG00438.hp1 HG00733.hp2 HG00738.hp2 HG01070.hp1 HG01099.hp1 HG01123.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02155.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02622.hp2 HG02647.hp1 HG02818.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03195.hp2 HG03471.hp2 HG03491.hp2 HG03669.hp2 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18956.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18973.hp2 NA18981.hp2 NA18995.hp1 NA19003.hp2 NA19011.hp2 NA19056.hp2 NA19068.hp1 NA19072.hp1 NA19082.hp1 NA19085.hp1 NA19090.hp1 NA20129.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0008 others(2): Show a0001c0001 a0001c0007 a0001c0008 a0001c0016 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0007t0001 a0001c0008t0001 a0001c0016t0002 a0002c0003t0001 a0002c0003t0015	a0001c0001t0001g0024 a0001c0001t0001g0042 a0001c0001t0001g0246 others(64): Show a0001c0001t0001g0024 a0001c0001t0001g0042 a0001c0001t0001g0246 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0348 a0001c0001t0002g0076 a0001c0001t0002g0087 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0167 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0189 a0001c0001t0002g0194 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0234 a0001c0001t0002g0241 a0001c0001t0002g0250 a0001c0001t0002g0302 a0001c0001t0002g0310 a0001c0001t0003g0028 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0330 a0001c0001t0003g0351 a0001c0001t0003g0354 a0001c0001t0006g0034 a0001c0001t0010g0165 a0001c0001t0010g0253 a0001c0001t0011g0338 a0001c0001t0012g0341 a0001c0007t0001g0179 a0001c0008t0001g0296 a0001c0016t0002g0240 a0002c0003t0001g0003 a0002c0003t0001g0012 a0002c0003t0001g0037 a0002c0003t0001g0048 a0002c0003t0001g0090 a0002c0003t0001g0097 a0002c0003t0001g0115 a0002c0003t0001g0132 a0002c0003t0001g0138 a0002c0003t0001g0258 a0002c0003t0001g0289 a0002c0003t0001g0308 a0002c0003t0001g0316 a0002c0003t0015g0257	67	358	0.1872	-8	c.-51 others(25): Show c.-51-4421_-51-4414delGTTCCTTC	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291352	GTTCCTTC others(1): Show GTTCCTTCC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01081.hp2 HG01255.hp2 others(9): Show HG00423.hp2 HG01081.hp2 HG01255.hp2 HG02145.hp2 HG03239.hp2 HG03942.hp1 NA18747.hp1 NA18941.hp2 NA18961.hp1 NA18980.hp2 NA18993.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0039 a0001c0002t0001g0043 a0001c0002t0001g0054 others(9): Show a0001c0002t0001g0039 a0001c0002t0001g0043 a0001c0002t0001g0054 a0001c0002t0001g0078 a0001c0002t0001g0143 a0001c0002t0001g0278 a0001c0002t0001g0281 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0005g0046 a0001c0002t0005g0170 a0001c0002t0005g0209	12	358	0.0335	-8	c.-51 others(25): Show c.-51-4363_-51-4356delTCCTTCCT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291486	CTTTCTTT others(1): Show CTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18959.hp1 NA18993.hp1 others(2): Show NA18951.hp2 NA18959.hp1 NA18993.hp1 NA19010.hp1 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0009 others(1): Show a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0009 a0001c0002t0001g0278	5	358	0.0140	-8	c.-51 others(25): Show c.-51-4286_-51-4279delTTTCTTTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291487	TTTCTTTT others(1): Show TTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp1 HG01074.hp2 others(9): Show HG00438.hp1 HG00741.hp1 HG01074.hp2 HG01993.hp2 HG02622.hp2 HG02818.hp2 HG02895.hp2 HG02976.hp1 HG03195.hp2 HG03471.hp1 HG04199.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0001c0019 others(1): Show a0001c0001 a0001c0008 a0001c0019 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0008t0001 a0001c0019t0001 a0002c0003t0001	a0001c0001t0001g0083 a0001c0001t0001g0297 a0001c0001t0001g0322 others(9): Show a0001c0001t0001g0083 a0001c0001t0001g0297 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0002g0127 a0001c0001t0003g0028 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0354 a0001c0008t0001g0337 a0001c0019t0001g0203 a0002c0003t0001g0090	12	358	0.0335	-8	c.-51 others(25): Show c.-51-4283_-51-4276delCTTTTCTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291525	TTTCCTTC others(1): Show TTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG01071.hp1 others(31): Show HG00642.hp1 HG00733.hp1 HG01071.hp1 HG01081.hp2 HG01361.hp1 HG01517.hp1 HG01981.hp1 HG01993.hp2 HG02040.hp1 HG02056.hp1 HG02258.hp1 HG02300.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG03209.hp2 HG03490.hp2 HG03942.hp1 HG04204.hp1 NA18522.hp2 NA18950.hp1 NA18992.hp2 NA19002.hp2 NA19007.hp2 NA19074.hp1 NA19079.hp1 NA19086.hp2 NA19088.hp1 NA19091.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0002t0005 a0001c0006t0002 a0001c0007t0001 a0001c0007t0002	a0001c0001t0001g0166 a0001c0001t0001g0202 a0001c0001t0001g0333 others(31): Show a0001c0001t0001g0166 a0001c0001t0001g0202 a0001c0001t0001g0333 a0001c0001t0001g0347 a0001c0001t0002g0027 a0001c0001t0002g0105 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0198 a0001c0001t0002g0231 a0001c0001t0002g0249 a0001c0001t0002g0254 a0001c0001t0002g0267 a0001c0001t0002g0272 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0008g0265 a0001c0002t0001g0033 a0001c0002t0001g0053 a0001c0002t0001g0067 a0001c0002t0001g0084 a0001c0002t0001g0088 a0001c0002t0001g0275 a0001c0002t0005g0046 a0001c0002t0005g0209 a0001c0002t0005g0326 a0001c0006t0002g0355 a0001c0007t0001g0179 a0001c0007t0002g0133	34	358	0.0950	-8	c.-51 others(25): Show c.-51-4205_-51-4198delCCTTCCTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291571	TCCTTTCT others(1): Show TCCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18945.hp2 NA18959.hp2 others(1): Show HG00673.hp2 NA18945.hp2 NA18959.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0145 a0001c0001t0002g0147 others(1): Show a0001c0001t0002g0038 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0149	4	358	0.0112	-8	c.-51 others(25): Show c.-51-4201_-51-4194delCCTTTCTC	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165306504	TTGTGTGT others(1): Show TTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp2 HG01496.hp2 others(9): Show HG00408.hp1 HG00673.hp2 HG01496.hp2 HG02040.hp2 HG02145.hp2 HG02622.hp1 HG04228.hp2 NA18612.hp1 NA18973.hp1 NA18995.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0002 a0001c0002t0001 a0001c0010t0001 a0001c0001t0002 a0001c0002t0001 a0001c0010t0001	a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0161 others(9): Show a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0161 a0001c0001t0002g0191 a0001c0001t0002g0280 a0001c0002t0001g0014 a0001c0002t0001g0068 a0001c0002t0001g0074 a0001c0002t0001g0171 a0001c0002t0001g0279 a0001c0002t0001g0281 a0001c0010t0001g0260	12	358	0.0335	-8	c.387 others(25): Show c.387-1302_387-1295delGTGTGTGT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165353911	ATATTTAT others(1): Show ATATTTATC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG01070.hp1 others(3): Show HG00140.hp2 HG00733.hp2 HG01070.hp1 HG02293.hp2 HG03669.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0129 a0001c0001t0002g0189 a0001c0001t0002g0190 others(3): Show a0001c0001t0002g0129 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0213 a0001c0001t0002g0302 a0001c0001t0011g0338	6	358	0.0168	-8	c.292 others(25): Show c.2920-279_2920-272delATTTATCT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	16/26		INFO_REALIGN_3_PRIME	chr2	TogoVar

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