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
SCHIP1_chr3_159268244_159902359	159842997	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02622.hp1 HG02717.hp1 others(3): Show HG01978.hp1 HG02622.hp1 HG02717.hp1 HG03195.hp2 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0001g0035 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0071	6	100	0.0600	11	c.760 others(30): Show c.760-23163_760-23162insTTTTTTTTTTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159843001	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01884.hp2 HG01978.hp2 others(3): Show HG01255.hp2 HG01884.hp2 HG01978.hp2 HG02027.hp2 HG02145.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0037 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0100	6	100	0.0600	11	c.760 others(30): Show c.760-23144_760-23134dupTTTTTTTTTTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0131 a0002c0002t0131	a0002c0002t0131g0278 a0002c0002t0131g0278	1	372	0.0027	11	c.354 others(26): Show c.354+696_354+706dupTTTTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12635611	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG02080.hp2 others(11): Show HG00423.hp1 HG00558.hp1 HG02080.hp2 HG02132.hp2 HG02135.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18956.hp2 NA18966.hp1 NA18977.hp1 NA19004.hp2 NA19068.hp2 NA19079.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0019	a0001c0001 a0002c0002 a0007c0008 others(1): Show a0001c0001 a0002c0002 a0007c0008 a0019c0025	a0001c0001t0005 a0001c0001t0016 a0001c0001t0019 others(11): Show a0001c0001t0005 a0001c0001t0016 a0001c0001t0019 a0001c0001t0032 a0001c0001t0103 a0001c0001t0147 a0001c0001t0149 a0001c0001t0208 a0001c0001t0209 a0001c0001t0246 a0002c0002t0216 a0007c0008t0217 a0007c0008t0247 a0019c0025t0107	a0001c0001t0005g0152 a0001c0001t0016g0160 a0001c0001t0019g0114 others(11): Show a0001c0001t0005g0152 a0001c0001t0016g0160 a0001c0001t0019g0114 a0001c0001t0032g0091 a0001c0001t0103g0168 a0001c0001t0147g0079 a0001c0001t0149g0089 a0001c0001t0208g0209 a0001c0001t0209g0095 a0001c0001t0246g0094 a0002c0002t0216g0306 a0007c0008t0217g0119 a0007c0008t0247g0136 a0019c0025t0107g0191	14	372	0.0376	11	c.132 others(28): Show c.1320-413_1320-403dupAAAAAAAAAAA	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657572	A A	ATATATAT others(4): Show ATATATATATTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0242 a0002c0002t0242	a0002c0002t0242g0248 a0002c0002t0242g0248	1	372	0.0027	11	c.48 others(22): Show c.4858_*4859insATATATATTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657572	A A	ATATATAT others(4): Show ATATATATTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp1 NA18975.hp2 HG00423.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0146 a0001c0001t0103 a0001c0001t0146	a0001c0001t0103g0168 a0001c0001t0146g0144 a0001c0001t0103g0168 a0001c0001t0146g0144	2	372	0.0054	11	c.48 others(22): Show c.4858_*4859insATATATTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657572	A A	ATATATTT others(4): Show ATATATTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0227 a0001c0001t0227	a0001c0001t0227g0034 a0001c0001t0227g0034	1	372	0.0027	11	c.48 others(22): Show c.4858_*4859insATATTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657572	A A	ATATTTTT others(4): Show ATATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18959.hp1 NA18991.hp2 NA18959.hp1 NA18991.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0024 a0002c0002 a0007c0024	a0002c0002t0166 a0007c0024t0218 a0002c0002t0166 a0007c0024t0218	a0002c0002t0166g0255 a0007c0024t0218g0099 a0002c0002t0166g0255 a0007c0024t0218g0099	2	372	0.0054	11	c.48 others(22): Show c.4858_*4859insATTTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657573	T T	TATATATA others(4): Show TATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01515.hp1 HG01928.hp1 HG01928.hp2 others(3): Show HG01515.hp1 HG01928.hp1 HG01928.hp2 HG02132.hp2 NA18952.hp1 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0016 a0001c0001t0205 a0002c0002t0016 others(2): Show a0001c0001t0016 a0001c0001t0205 a0002c0002t0016 a0002c0002t0140 a0002c0003t0064	a0001c0001t0016g0160 a0001c0001t0016g0213 a0001c0001t0205g0103 others(3): Show a0001c0001t0016g0160 a0001c0001t0016g0213 a0001c0001t0205g0103 a0002c0002t0016g0274 a0002c0002t0140g0259 a0002c0003t0064g0356	6	372	0.0161	11	c.48 others(22): Show c.4858_*4859insATATATATATA	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859		chr7	TogoVar
SCLT1_chr4_128878993_129098539	128912574	G G	GGGATACA others(4): Show GGGATACAATTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG02717.hp1 others(1): Show HG02280.hp2 HG02630.hp2 HG02717.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0001c0011	a0001c0001t0009 a0001c0002t0007 a0001c0010t0001 others(1): Show a0001c0001t0009 a0001c0002t0007 a0001c0010t0001 a0001c0011t0010	a0001c0001t0009g0280 a0001c0002t0007g0277 a0001c0010t0001g0061 others(1): Show a0001c0001t0009g0280 a0001c0002t0007g0277 a0001c0010t0001g0061 a0001c0011t0010g0284	4	288	0.0139	11	c.183 others(32): Show c.1830-21448_1830-21438dupGAATTGTATCC	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	18/20			chr4	TogoVar
SCLT1_chr4_128878993_129098539	129065611	C C	CATTAGAT others(4): Show CATTAGATAGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(89): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG01070.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02273.hp2 HG02280.hp1 HG02523.hp2 HG02630.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp2 NA18747.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18954.hp2 NA18963.hp2 NA18965.hp1 NA18970.hp1 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18990.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19003.hp1 NA19005.hp2 NA19010.hp1 NA19012.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA20300.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0008 a0002c0003 others(2): Show a0001c0001 a0001c0008 a0002c0003 a0004c0013 a0007c0014	a0001c0001t0001 a0001c0008t0001 a0002c0003t0001 others(3): Show a0001c0001t0001 a0001c0008t0001 a0002c0003t0001 a0002c0003t0002 a0004c0013t0001 a0007c0014t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(86): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 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 a0001c0008t0001g0198 a0001c0008t0001g0214 a0002c0003t0001g0138 a0002c0003t0001g0208 a0002c0003t0002g0011 a0004c0013t0001g0211 a0007c0014t0001g0123	92	288	0.3194	11	c.102 others(30): Show c.102+16694_102+16695insCTCTATCTAAT	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	2/20			chr4	TogoVar
SCMH1_chr1_41022202_41247306	41058378	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show HG00323.hp1 HG00558.hp2 HG00597.hp1 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01261.hp2 HG01433.hp1 HG01975.hp2 HG01993.hp2 HG02071.hp2 HG02074.hp1 HG02155.hp2 HG02735.hp1 HG04228.hp1 NA18940.hp1 NA18942.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18969.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp2 NA19054.hp2 NA19068.hp1 NA19079.hp1 NA19080.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010	a0001c0001t0004g0246 a0001c0001t0004g0248 a0001c0001t0004g0249 others(26): Show a0001c0001t0004g0246 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0271 a0001c0001t0004g0288 a0001c0001t0004g0291 a0001c0001t0004g0294 a0001c0001t0004g0296 a0001c0001t0005g0253 a0001c0001t0005g0265 a0001c0001t0005g0268 a0001c0001t0005g0270 a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0280 a0001c0001t0005g0283 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0292 a0001c0001t0005g0298 a0001c0001t0010g0006	29	304	0.0954	11	c.110 others(30): Show c.1106-9499_1106-9489dupAAAAAAAAAAA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	10/15			chr1	TogoVar
SCMH1_chr1_41022202_41247306	41089787	C C	CTCTTTTT others(4): Show CTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp2 HG01192.hp1 others(3): Show HG00735.hp2 HG01175.hp2 HG01192.hp1 HG02486.hp2 HG02622.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 others(3): Show a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189	6	304	0.0197	11	c.746 others(30): Show c.746-14337_746-14336insAAAAAAAAAGA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	8/15			chr1	TogoVar
SCMH1_chr1_41022202_41247306	41089787	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp1 HG01168.hp2 others(13): Show HG00099.hp1 HG01069.hp1 HG01168.hp2 HG01256.hp1 HG01515.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02809.hp1 HG02976.hp2 HG03490.hp1 HG03669.hp2 NA19005.hp2 NA19062.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0147 a0001c0001t0001g0156 others(13): Show a0001c0001t0001g0008 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0237	16	304	0.0526	11	c.746 others(30): Show c.746-14347_746-14337dupAAAAAAAAAAA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	8/15			chr1	TogoVar
SCMH1_chr1_41022202_41247306	41244447	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01975.hp1 HG02698.hp2 others(4): Show HG00323.hp2 HG01975.hp1 HG02698.hp2 NA18946.hp2 NA18968.hp2 NA18973.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0081 a0001c0001t0002g0083 others(4): Show a0001c0001t0002g0075 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0099 a0001c0001t0002g0105	7	304	0.0230	11	c.-25 others(22): Show c.-2507_-2506insAAAAAAAAAAA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding		2142		chr1	TogoVar
SCML2_chrX_18234313_18359688	18354389	A A	AGGGGCGT others(4): Show AGGGGCGTCCGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	247	0.0041	11	c.-25 others(26): Show c.-25+202_-25+203insGCGGACGCCCC	SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	1/14			chrX	TogoVar
SCML4_chr6_107697154_107829313	107701607	A A	ACACACAC others(4): Show ACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	250	0.0040	11	c.35 others(22): Show c.3592_*3593insGTGTGTGTGTG	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding		546		chr6	TogoVar
SCML4_chr6_107697154_107829313	107726532	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG06807.hp2 HG02145.hp1 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0013 a0001c0001 a0003c0013	a0001c0001t0001 a0003c0013t0006 a0001c0001t0001 a0003c0013t0006	a0001c0001t0001g0010 a0003c0013t0006g0037 a0001c0001t0001g0010 a0003c0013t0006g0037	2	250	0.0080	11	c.683 others(28): Show c.683-5550_683-5540dupTTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	5/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107743983	T T	TATTTCTC others(4): Show TATTTCTCAAAA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18977.hp1 NA19077.hp1 others(3): Show NA18944.hp2 NA18977.hp1 NA19077.hp1 NA19079.hp1 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0009 a0001c0010 a0001c0009 a0001c0010	a0001c0009t0001 a0001c0009t0006 a0001c0010t0007 a0001c0009t0001 a0001c0009t0006 a0001c0010t0007	a0001c0009t0001g0139 a0001c0009t0006g0063 a0001c0009t0006g0066 others(3): Show a0001c0009t0001g0139 a0001c0009t0006g0063 a0001c0009t0006g0066 a0001c0010t0007g0044 a0001c0010t0007g0140 a0001c0010t0007g0141	6	250	0.0240	11	c.682 others(26): Show c.682+965_682+966insTTTTGAGAAAT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	5/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107751647	T T	TTTCTTTC others(4): Show TTTCTTTCTTTA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0067 a0001c0002t0009g0067	1	250	0.0040	11	c.157 others(28): Show c.157-1835_157-1834insTAAAGAAAGAA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	2/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778214	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0049 a0001c0002t0010g0049	1	250	0.0040	11	c.-59 others(28): Show c.-59-5829_-59-5828insATATATATATA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(4): Show AAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0155	1	250	0.0040	11	c.-59 others(28): Show c.-59-5837_-59-5836insATATTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAATAT others(4): Show AAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18957.hp1 HG01891.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0005t0011 a0001c0001t0006 a0001c0005t0011	a0001c0001t0006g0071 a0001c0005t0011g0098 a0001c0001t0006g0071 a0001c0005t0011g0098	2	250	0.0080	11	c.-59 others(28): Show c.-59-5837_-59-5836insATATATATTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107817620	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0135 a0001c0003t0012g0135	1	250	0.0040	11	c.-60 others(28): Show c.-60+6495_-60+6505dupTTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107822508	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18957.hp2 NA18973.hp2 HG00544.hp1 NA18957.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0003 a0001c0002t0009 a0001c0005t0030 a0001c0001t0003 a0001c0002t0009 a0001c0005t0030	a0001c0001t0003g0080 a0001c0002t0009g0078 a0001c0005t0030g0079 a0001c0001t0003g0080 a0001c0002t0009g0078 a0001c0005t0030g0079	3	250	0.0120	11	c.-60 others(28): Show c.-60+1607_-60+1617dupAAAAAAAAAAA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38736963	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp1 HG02922.hp2 others(2): Show HG01243.hp2 HG02486.hp1 HG02922.hp2 HG02965.hp1 HG03195.hp2	a0001 a0018 a0001 a0018	a0001c0003 a0001c0007 a0018c0051 a0001c0003 a0001c0007 a0018c0051	a0001c0003t0002 a0001c0007t0001 a0018c0051t0001 a0001c0003t0002 a0001c0007t0001 a0018c0051t0001	a0001c0003t0002g0080 a0001c0007t0001g0103 a0001c0007t0001g0364 others(2): Show a0001c0003t0002g0080 a0001c0007t0001g0103 a0001c0007t0001g0364 a0001c0007t0001g0366 a0018c0051t0001g0093	5	372	0.0134	11	c.228 others(30): Show c.2280+2541_2280+2551dupAAAAAAAAAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38737832	C C	CTTTTCTT others(4): Show CTTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0005 a0005	a0005c0025 a0005c0025	a0005c0025t0001 a0005c0025t0001	a0005c0025t0001g0305 a0005c0025t0001g0305	1	372	0.0027	11	c.228 others(30): Show c.2280+1682_2280+1683insAAGAAAGAAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38798786	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0370 a0001c0032t0001g0370	1	372	0.0027	11	c.-32 others(28): Show c.-32-4755_-32-4745dupAAAAAAAAAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	1/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877114	C C	CCATATAT others(4): Show CCATATATACGG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0265	1	314	0.0032	11	c.339 others(30): Show c.3393+2835_3393+2836insCCGTATATATG	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877114	C C	CCATATAT others(4): Show CCATATATATGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03540.hp1 HG01109.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0003 a0001c0015t0003 a0001c0001t0003 a0001c0015t0003	a0001c0001t0003g0312 a0001c0015t0003g0288 a0001c0001t0003g0312 a0001c0015t0003g0288	2	314	0.0064	11	c.339 others(30): Show c.3393+2835_3393+2836insCCATATATATG	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877114	C C	CTATATAT others(4): Show CTATATATATGG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02523.hp2 HG04204.hp2 others(4): Show HG01993.hp2 HG02523.hp2 HG04204.hp2 NA18940.hp2 NA19066.hp1 NA19083.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0004 a0001c0001t0002g0038 a0001c0001t0002g0070 others(4): Show a0001c0001t0002g0004 a0001c0001t0002g0038 a0001c0001t0002g0070 a0001c0001t0002g0075 a0001c0001t0002g0097 a0002c0003t0001g0010 a0002c0003t0001g0026	7	314	0.0223	11	c.339 others(30): Show c.3393+2825_3393+2835dupCCATATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877116	A A	ATATATAT others(4): Show ATATATATGGTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG06807.hp1 HG03453.hp2 HG06807.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0308 a0001c0006t0003g0309 a0001c0006t0003g0308 a0001c0006t0003g0309	2	314	0.0064	11	c.339 others(30): Show c.3393+2823_3393+2833dupCACCATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38889802	A A	AAAAAATA others(4): Show AAAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	314	0.0032	11	c.283 others(30): Show c.2836-3565_2836-3564insATTTTATTTTT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	19/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166050650	T T	TGTATGTA others(4): Show TGTATGTATGTA	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0010 a0010	a0010c0026 a0010c0026	a0010c0026t0043 a0010c0026t0043	a0010c0026t0043g0038 a0010c0026t0043g0038	1	356	0.0028	11	c.964 others(28): Show c.964+1068_964+1069insTACATACATAC	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	9/28			chr2	TogoVar
SCN1A_chr2_165980813_166133020	166118298	G G	GCTTCTTT others(4): Show GCTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01496.hp2 HG01891.hp2 others(6): Show HG01175.hp2 HG01496.hp2 HG01891.hp2 HG01928.hp1 HG02155.hp2 HG02976.hp2 HG03225.hp1 HG04199.hp1 NA18947.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0007	a0001c0001t0001 a0001c0001t0017 a0001c0003t0034 others(3): Show a0001c0001t0001 a0001c0001t0017 a0001c0003t0034 a0002c0002t0037 a0002c0002t0054 a0003c0007t0044	a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 others(6): Show a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0017g0056 a0001c0003t0034g0069 a0001c0003t0034g0070 a0002c0002t0037g0055 a0002c0002t0054g0306 a0003c0007t0044g0317	9	356	0.0253	11	c.-14 others(30): Show c.-142+8625_-142+8626insAAAAAAAGAAG	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28			chr2	TogoVar
SCN1A_chr2_165980813_166133020	166123223	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02155.hp1 HG02723.hp1 HG00673.hp1 HG02155.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0017 a0001c0001t0040 a0001c0003t0020 a0001c0001t0017 a0001c0001t0040 a0001c0003t0020	a0001c0001t0017g0322 a0001c0001t0040g0321 a0001c0003t0020g0345 a0001c0001t0017g0322 a0001c0001t0040g0321 a0001c0003t0020g0345	3	356	0.0084	11	c.-14 others(30): Show c.-142+3690_-142+3700dupTTTTTTTTTTT	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28			chr2	TogoVar
SCN1B_chr19_35025470_35045449	35026284	A A	ACCACGGA others(4): Show ACCACGGAATCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01169.hp1 HG01169.hp2 others(3): Show HG00323.hp1 HG01169.hp1 HG01169.hp2 HG01952.hp2 HG01975.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005	6	404	0.0149	11	c.-45 others(22): Show c.-4537_-4536insCCACGGAATCC	SCN1B	ENSG00000105711.14	transcript	ENST00000262631.11	protein_coding		4185		chr19	TogoVar
SCN2A_chr2_165234414_165397304	165291491	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01515.hp1 HG02886.hp1 others(3): Show HG01257.hp1 HG01515.hp1 HG02886.hp1 HG03195.hp1 HG03491.hp2 NA18947.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0014 a0002c0003 a0001c0001 a0001c0014 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0014t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0014t0002 a0002c0003t0001	a0001c0001t0001g0229 a0001c0001t0002g0200 a0001c0014t0002g0104 others(3): Show a0001c0001t0001g0229 a0001c0001t0002g0200 a0001c0014t0002g0104 a0002c0003t0001g0012 a0002c0003t0001g0115 a0002c0003t0001g0132	6	358	0.0168	11	c.-51 others(28): Show c.-51-4280_-51-4279insCTTTCTTTCTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291528	C C	CTTTCTTT others(4): Show CTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00597.hp2 others(10): Show HG00140.hp2 HG00408.hp2 HG00597.hp2 HG01081.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01975.hp1 HG01981.hp2 HG02273.hp1 HG02293.hp2 NA18612.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0002 a0001c0001t0002g0122 a0001c0001t0002g0178 others(9): Show a0001c0001t0002g0002 a0001c0001t0002g0122 a0001c0001t0002g0178 a0001c0001t0002g0190 a0001c0001t0002g0195 a0001c0001t0002g0213 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0310 a0001c0001t0010g0253	13	358	0.0363	11	c.-51 others(28): Show c.-51-4245_-51-4244insTTTCTTTCTTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165303270	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18959.hp2 NA18945.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0149 a0001c0001t0002g0038 a0001c0001t0002g0149	2	358	0.0056	11	c.387 others(28): Show c.387-4565_387-4555dupTTTTTTTTTTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165392742	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG02280.hp1 HG02559.hp1 others(1): Show HG01496.hp2 HG02280.hp1 HG02559.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0262 a0001c0001t0002g0263 others(1): Show a0001c0001t0002g0025 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0280	4	358	0.0112	11	c.29 others(22): Show c.2918_*2919insAAAAAAAAAAA	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding		439		chr2	TogoVar
SCN2B_chr11_118157806_118181639	118174091	C C	CTTTTGTT others(4): Show CTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18943.hp1 HG03579.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0189 a0001c0001t0024g0233 a0001c0001t0001g0189 a0001c0001t0024g0233	2	450	0.0044	11	c.70+ others(26): Show c.70+2270_70+2271insAAAAAACAAAA	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding	1/3			chr11	TogoVar
SCN2B_chr11_118157806_118181639	118179408	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0218 a0001c0001t0011g0218	1	450	0.0022	11	c.-29 others(22): Show c.-2978_-2977insAAAAAAAAAAA	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding		2770		chr11	TogoVar
SCN3A_chr2_165082526_165209050	165086861	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 NA18906.hp2 HG02965.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0027 a0001c0001 a0001c0027	a0001c0001t0002 a0001c0027t0012 a0001c0001t0002 a0001c0027t0012	a0001c0001t0002g0041 a0001c0027t0012g0022 a0001c0001t0002g0041 a0001c0027t0012g0022	2	314	0.0064	11	c.32 others(22): Show c.3288_*3289insAAAAAAAAAAA	SCN3A	ENSG00000153253.20	transcript	ENST00000283254.12	protein_coding		664		chr2	TogoVar
SCN3A_chr2_165082526_165209050	165153987	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01891.hp1 others(11): Show HG00639.hp2 HG01074.hp1 HG01891.hp1 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02922.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG04199.hp1 NA18977.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0008 a0001c0026 others(2): Show a0001c0001 a0001c0008 a0001c0026 a0002c0015 a0009c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0008t0002 a0001c0026t0001 a0002c0015t0001 a0009c0016t0005	a0001c0001t0001g0068 a0001c0001t0001g0148 a0001c0001t0001g0149 others(10): Show a0001c0001t0001g0068 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0002g0024 a0001c0001t0003g0006 a0001c0001t0003g0280 a0001c0001t0003g0299 a0001c0008t0002g0032 a0001c0026t0001g0165 a0002c0015t0001g0206 a0009c0016t0005g0303	14	314	0.0446	11	c.138 others(28): Show c.1380+454_1380+464dupAAAAAAAAAAA	SCN3A	ENSG00000153253.20	transcript	ENST00000283254.12	protein_coding	11/27			chr2	TogoVar
SCN3B_chr11_123624188_123659624	123642197	A A	AGAGCTCA others(4): Show AGAGCTCATTCT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0039 a0002c0005t0039	a0002c0005t0039g0075 a0002c0005t0039g0075	1	450	0.0022	11	c.445 others(26): Show c.445+238_445+248dupAGAATGAGCTC	SCN3B	ENSG00000166257.10	transcript	ENST00000299333.8	protein_coding	4/6			chr11	TogoVar
SCN4B_chr11_118128377_118157823	118136092	A A	AGGGGGAG others(4): Show AGGGGGAGAAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00733.hp1 others(91): Show HG00099.hp1 HG00438.hp1 HG00733.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02080.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02738.hp1 HG02809.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp2 NA18940.hp2 NA18942.hp1 NA18944.hp1 NA18952.hp2 NA18957.hp1 NA18960.hp2 NA18963.hp2 NA18965.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18980.hp1 NA18981.hp1 NA18985.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19058.hp1 NA19072.hp1 NA19078.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20805.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0011 a0001c0001 a0001c0002 a0004c0011	a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 others(4): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0001t0023 a0001c0001t0048 a0001c0002t0047 a0004c0011t0003	a0001c0001t0003g0003 a0001c0001t0003g0042 a0001c0001t0003g0046 others(44): Show a0001c0001t0003g0003 a0001c0001t0003g0042 a0001c0001t0003g0046 a0001c0001t0003g0050 a0001c0001t0003g0053 a0001c0001t0003g0098 a0001c0001t0003g0114 a0001c0001t0003g0135 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0172 a0001c0001t0003g0178 a0001c0001t0003g0182 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0199 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0217 a0001c0001t0003g0222 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0005g0006 a0001c0001t0005g0041 a0001c0001t0005g0048 a0001c0001t0005g0057 a0001c0001t0005g0074 a0001c0001t0005g0121 a0001c0001t0005g0155 a0001c0001t0005g0161 a0001c0001t0005g0177 a0001c0001t0005g0180 a0001c0001t0005g0190 a0001c0001t0005g0220 a0001c0001t0005g0223 a0001c0001t0005g0227 a0001c0001t0014g0013 a0001c0001t0014g0147 a0001c0001t0023g0183 a0001c0001t0023g0188 a0001c0001t0048g0195 a0001c0002t0047g0088 a0004c0011t0003g0186	94	446	0.2108	11	c.92 others(20): Show c.924_*934dupGCTTCTCCCCC	SCN4B	ENSG00000177098.9	transcript	ENST00000324727.9	protein_coding	5/5	934		chr11	TogoVar
SCN5A_chr3_38543062_38654687	38555101	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0280 a0001c0012t0001g0280	1	340	0.0029	11	c.454 others(28): Show c.4543-553_4543-552insAAAAAAAAAAA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38555103	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0040 a0001c0012t0001g0040	1	340	0.0029	11	c.454 others(28): Show c.4542+552_4542+553insAAAAAAAAAAA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38555105	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0184 a0001c0002t0001g0184	1	340	0.0029	11	c.454 others(28): Show c.4542+550_4542+551insAAATATATATA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar

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