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
SCML1_chrX_17732493_17759985	17737422	GCCCCCCC others(5): Show GCCCCCCCCCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	281	0.0036	-12	c.-37 others(21): Show c.-374_-363delCCCCCCCCCCCC	SCML1	ENSG00000047634.15	transcript	ENST00000380041.8	protein_coding		70		chrX	TogoVar
SCML2_chrX_18234313_18359688	18251309	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01928.hp1 others(3): Show HG01081.hp2 HG01099.hp1 HG01928.hp1 HG01952.hp1 NA18986.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 others(3): Show a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0200	6	247	0.0243	-12	c.145 others(31): Show c.1457-3439_1457-3428delTTTTTTTTTTTT	SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	11/14			chrX	TogoVar
SCML2_chrX_18234313_18359688	18257958	AAAGGGAA others(5): Show AAAGGGAAGGGGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00597.hp1 others(82): Show HG00323.hp2 HG00544.hp1 HG00597.hp1 HG00673.hp1 HG00733.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01358.hp1 HG01361.hp1 HG01517.hp1 HG01884.hp2 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02109.hp2 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02738.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03516.hp2 HG03704.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18747.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18992.hp1 NA18994.hp1 NA18999.hp1 NA19001.hp1 NA19007.hp1 NA19010.hp1 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0003c0005t0002	a0001c0001t0001g0138 a0001c0001t0001g0164 a0001c0001t0001g0206 others(82): Show a0001c0001t0001g0138 a0001c0001t0001g0164 a0001c0001t0001g0206 a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0147 a0001c0002t0002g0005 a0003c0005t0002g0004	85	247	0.3441	-12	c.127 others(27): Show c.1273+74_1273+85delCCCCCTTCCCTT	SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	10/14			chrX	TogoVar
SCML2_chrX_18234313_18359688	18262540	CATGTTGG others(5): Show CATGTTGGCCAGG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02451.hp1 others(11): Show HG01891.hp1 HG02109.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02970.hp1 HG03453.hp2 HG03540.hp2 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 others(11): Show a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239	14	247	0.0567	-12	c.949 others(29): Show c.949-2261_949-2250delCCTGGCCAACAT	SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	8/14			chrX	TogoVar
SCML2_chrX_18234313_18359688	18264431	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00597.hp1 others(68): Show HG00323.hp2 HG00544.hp1 HG00597.hp1 HG00673.hp1 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01168.hp1 HG01169.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01517.hp1 HG02004.hp2 HG02015.hp1 HG02109.hp2 HG02155.hp1 HG02257.hp1 HG02615.hp1 HG02738.hp1 HG02818.hp2 HG02922.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03704.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18982.hp1 NA18984.hp1 NA18988.hp1 NA18989.hp1 NA18992.hp1 NA18994.hp1 NA19001.hp1 NA19007.hp1 NA19010.hp1 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0002c0007t0001	a0001c0001t0001g0164 a0001c0001t0001g0206 a0001c0001t0001g0223 others(68): Show a0001c0001t0001g0164 a0001c0001t0001g0206 a0001c0001t0001g0223 a0001c0001t0003g0224 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0077 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0220 a0001c0002t0001g0221 a0002c0007t0001g0219	71	247	0.2875	-12	c.948 others(29): Show c.948+1142_948+1153delCACACACACACA	SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	8/14			chrX	TogoVar
SCML2_chrX_18234313_18359688	18347723	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02717.hp1 NA18945.hp1 others(2): Show HG02132.hp1 HG02717.hp1 NA18945.hp1 NA19000.hp1 NA19009.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0003 a0001c0001 a0005c0003	a0001c0001t0001 a0005c0003t0001 a0001c0001t0001 a0005c0003t0001	a0001c0001t0001g0104 a0001c0001t0001g0148 a0001c0001t0001g0208 others(2): Show a0001c0001t0001g0104 a0001c0001t0001g0148 a0001c0001t0001g0208 a0001c0001t0001g0222 a0005c0003t0001g0207	5	247	0.0202	-12	c.-25 others(29): Show c.-25+6857_-25+6868delTTTTTTTTTTTT	SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	1/14			chrX	TogoVar
SCML4_chr6_107697154_107829313	107751572	ATCTTTCT others(5): Show ATCTTTCTTTCTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01884.hp2 HG02056.hp1 others(10): Show HG01167.hp2 HG01884.hp2 HG02056.hp1 HG02602.hp2 HG02886.hp1 HG03098.hp2 HG03225.hp1 HG03471.hp2 HG03540.hp1 HG03831.hp1 NA19076.hp1 NA19076.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0023 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0023 a0001c0002t0001 a0001c0002t0010 a0001c0002t0029 a0001c0003t0007 a0002c0006t0005	a0001c0001t0002g0168 a0001c0001t0002g0177 a0001c0001t0002g0206 others(10): Show a0001c0001t0002g0168 a0001c0001t0002g0177 a0001c0001t0002g0206 a0001c0001t0003g0014 a0001c0001t0023g0112 a0001c0002t0001g0031 a0001c0002t0001g0153 a0001c0002t0010g0049 a0001c0002t0010g0148 a0001c0002t0029g0151 a0001c0003t0007g0048 a0001c0003t0007g0051 a0002c0006t0005g0249	13	250	0.0520	-12	c.157 others(29): Show c.157-1771_157-1760delAAGAAAGAAAGA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	2/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107784889	GAGCAGAC others(5): Show GAGCAGACCAGCA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp2 HG02922.hp1 others(8): Show HG02055.hp1 HG02630.hp2 HG02922.hp1 HG02965.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03516.hp2 HG04184.hp1 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0002t0010 a0001c0003t0007 a0001c0008t0001	a0001c0001t0001g0076 a0001c0001t0006g0077 a0001c0001t0013g0011 others(8): Show a0001c0001t0001g0076 a0001c0001t0006g0077 a0001c0001t0013g0011 a0001c0001t0014g0009 a0001c0001t0019g0137 a0001c0001t0021g0013 a0001c0002t0010g0008 a0001c0002t0010g0134 a0001c0003t0007g0048 a0001c0003t0007g0051 a0001c0008t0001g0250	11	250	0.0440	-12	c.-59 others(31): Show c.-59-12515_-59-12504delTGCTGGTCTGCT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107802576	GAGGGAGG others(5): Show GAGGGAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02818.hp1 HG02717.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0109 a0001c0001t0006g0116 a0001c0001t0001g0109 a0001c0001t0006g0116	2	250	0.0080	-12	c.-60 others(31): Show c.-60+21538_-60+21549delTCCTTCCTCCCT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107802666	TCTCCCTC others(5): Show TCTCCCTCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01167.hp2 HG01257.hp2 others(23): Show HG01099.hp1 HG01167.hp2 HG01257.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01952.hp2 HG02083.hp2 HG02132.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02698.hp1 HG03540.hp1 HG04115.hp2 HG04199.hp2 HG06807.hp1 NA18747.hp1 NA18951.hp2 NA18987.hp1 NA18994.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0004 others(5): Show a0001c0001 a0001c0002 a0002c0004 a0002c0006 a0002c0007 a0002c0014 a0002c0016 a0003c0015	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(12): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0002c0004t0001 a0002c0004t0003 a0002c0004t0006 a0002c0004t0009 a0002c0004t0014 a0002c0006t0009 a0002c0006t0022 a0002c0007t0007 a0002c0014t0011 a0002c0016t0011 a0003c0015t0009	a0001c0001t0003g0014 a0001c0001t0003g0021 a0001c0001t0003g0026 others(23): Show a0001c0001t0003g0014 a0001c0001t0003g0021 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0036 a0001c0001t0004g0201 a0001c0001t0006g0022 a0001c0001t0006g0025 a0001c0002t0001g0031 a0002c0004t0001g0020 a0002c0004t0003g0034 a0002c0004t0006g0028 a0002c0004t0009g0175 a0002c0004t0014g0019 a0002c0006t0009g0016 a0002c0006t0009g0023 a0002c0006t0009g0030 a0002c0006t0009g0032 a0002c0006t0022g0015 a0002c0007t0007g0017 a0002c0007t0007g0018 a0002c0007t0007g0033 a0002c0007t0007g0035 a0002c0014t0011g0027 a0002c0016t0011g0024 a0003c0015t0009g0001	26	250	0.1040	-12	c.-60 others(31): Show c.-60+21448_-60+21459delGAGAGGAGGGAG	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107813413	TATATATA others(5): Show TATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03041.hp2 NA18949.hp2 others(2): Show HG02886.hp2 HG03041.hp2 NA18949.hp2 NA18965.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0004 a0001c0001t0013 a0001c0002t0005 others(1): Show a0001c0001t0004 a0001c0001t0013 a0001c0002t0005 a0001c0011t0001	a0001c0001t0004g0208 a0001c0001t0013g0068 a0001c0002t0005g0209 others(2): Show a0001c0001t0004g0208 a0001c0001t0013g0068 a0001c0002t0005g0209 a0001c0002t0005g0230 a0001c0011t0001g0072	5	250	0.0200	-12	c.-60 others(31): Show c.-60+10701_-60+10712delTTATATATATAT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107824462	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00735.hp2 HG01099.hp1 others(20): Show HG00609.hp2 HG00735.hp2 HG01099.hp1 HG01257.hp2 HG01346.hp2 HG01934.hp1 HG01952.hp2 HG02132.hp1 HG02280.hp2 HG02451.hp1 HG02602.hp1 HG02630.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03492.hp2 HG03516.hp2 HG04199.hp2 NA18747.hp1 NA18973.hp1 NA19091.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004 a0002c0006 a0002c0007	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(13): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0019 a0001c0001t0021 a0001c0002t0005 a0001c0003t0007 a0001c0003t0016 a0001c0005t0011 a0001c0005t0018 a0002c0004t0001 a0002c0004t0003 a0002c0004t0014 a0002c0006t0009 a0002c0006t0022 a0002c0007t0007	a0001c0001t0001g0109 a0001c0001t0006g0022 a0001c0001t0013g0118 others(20): Show a0001c0001t0001g0109 a0001c0001t0006g0022 a0001c0001t0013g0118 a0001c0001t0013g0120 a0001c0001t0013g0124 a0001c0001t0019g0075 a0001c0001t0021g0013 a0001c0002t0005g0197 a0001c0003t0007g0100 a0001c0003t0016g0052 a0001c0005t0011g0061 a0001c0005t0018g0205 a0002c0004t0001g0020 a0002c0004t0003g0034 a0002c0004t0014g0019 a0002c0006t0009g0016 a0002c0006t0009g0023 a0002c0006t0009g0030 a0002c0006t0009g0041 a0002c0006t0022g0015 a0002c0007t0007g0017 a0002c0007t0007g0018 a0002c0007t0007g0033	23	250	0.0920	-12	c.-40 others(21): Show c.-408_-397delCACACACACACA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding		150		chr6	TogoVar
SCN10A_chr3_38691807_38821217	38719367	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00544.hp2 others(49): Show HG00323.hp1 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00741.hp1 HG01081.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01496.hp2 HG01516.hp1 HG02015.hp2 HG02040.hp1 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02523.hp1 HG02602.hp1 HG02683.hp2 HG03017.hp1 HG03195.hp1 HG03239.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18975.hp1 NA18979.hp1 NA18982.hp1 NA18984.hp2 NA18989.hp1 NA18990.hp2 NA19000.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19062.hp1 NA19070.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19090.hp1 NA20752.hp1	a0002 a0006 a0007 others(4): Show a0002 a0006 a0007 a0014 a0027 a0028 a0032	a0002c0001 a0002c0015 a0002c0023 others(9): Show a0002c0001 a0002c0015 a0002c0023 a0002c0024 a0002c0030 a0002c0067 a0006c0016 a0007c0056 a0014c0060 a0027c0043 a0028c0037 a0032c0065	a0002c0001t0001 a0002c0001t0002 a0002c0015t0001 others(10): Show a0002c0001t0001 a0002c0001t0002 a0002c0015t0001 a0002c0023t0001 a0002c0024t0001 a0002c0030t0001 a0002c0067t0001 a0006c0016t0001 a0007c0056t0001 a0014c0060t0004 a0027c0043t0001 a0028c0037t0001 a0032c0065t0001	a0002c0001t0001g0050 a0002c0001t0001g0063 a0002c0001t0001g0064 others(49): Show a0002c0001t0001g0050 a0002c0001t0001g0063 a0002c0001t0001g0064 a0002c0001t0001g0065 a0002c0001t0001g0066 a0002c0001t0001g0126 a0002c0001t0001g0154 a0002c0001t0001g0166 a0002c0001t0001g0169 a0002c0001t0001g0181 a0002c0001t0001g0182 a0002c0001t0001g0188 a0002c0001t0001g0191 a0002c0001t0001g0196 a0002c0001t0001g0198 a0002c0001t0001g0199 a0002c0001t0001g0201 a0002c0001t0001g0207 a0002c0001t0001g0210 a0002c0001t0001g0219 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0229 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0235 a0002c0001t0001g0239 a0002c0001t0001g0243 a0002c0001t0001g0247 a0002c0001t0001g0275 a0002c0001t0001g0345 a0002c0001t0001g0346 a0002c0001t0001g0347 a0002c0001t0001g0349 a0002c0001t0002g0194 a0002c0001t0002g0202 a0002c0001t0002g0278 a0002c0015t0001g0178 a0002c0015t0001g0317 a0002c0023t0001g0062 a0002c0023t0001g0200 a0002c0024t0001g0206 a0002c0030t0001g0249 a0002c0067t0001g0236 a0006c0016t0001g0031 a0006c0016t0001g0051 a0006c0016t0001g0053 a0007c0056t0001g0008 a0014c0060t0004g0162 a0027c0043t0001g0185 a0028c0037t0001g0204 a0032c0065t0001g0226	52	372	0.1398	-12	c.350 others(29): Show c.3508-553_3508-542delAAAAAAAAAAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	20/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38736361	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01169.hp1 HG02257.hp1 others(4): Show HG00639.hp2 HG01169.hp1 HG02257.hp1 HG02818.hp1 HG02970.hp2 NA18906.hp1 NA19030.hp1	a0005 a0005	a0005c0009 a0005c0011 a0005c0009 a0005c0011	a0005c0009t0002 a0005c0009t0003 a0005c0011t0001 a0005c0009t0002 a0005c0009t0003 a0005c0011t0001	a0005c0009t0002g0104 a0005c0009t0002g0149 a0005c0009t0002g0150 others(4): Show a0005c0009t0002g0104 a0005c0009t0002g0149 a0005c0009t0002g0150 a0005c0009t0002g0152 a0005c0009t0002g0153 a0005c0009t0003g0003 a0005c0011t0001g0087	7	372	0.0188	-12	c.228 others(31): Show c.2280+3142_2280+3153delCACACACACACA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38746063	GTATATAT others(5): Show GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03453.hp1 HG02896.hp1 HG02897.hp2 HG03453.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0085 a0002c0014t0001g0106 a0002c0014t0001g0108 a0002c0014t0001g0085 a0002c0014t0001g0106 a0002c0014t0001g0108	3	372	0.0081	-12	c.186 others(31): Show c.1868-3546_1868-3535delTATATATATATA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38761854	GAGAGAGA others(5): Show GAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0130 a0001c0003t0001g0130	1	372	0.0027	-12	c.692 others(27): Show c.692-483_692-472delTTCTCTCTCTCT	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	6/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38907310	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0157	1	314	0.0032	-12	c.147 others(29): Show c.1473+627_1473+638delCACACACACACA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	14/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38907332	GTGTGTGT others(5): Show GTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02109.hp1 HG02630.hp1 others(2): Show HG00733.hp1 HG02109.hp1 HG02630.hp1 NA18941.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0001t0002 a0001c0002t0001 a0001c0002t0004	a0001c0001t0002g0147 a0001c0002t0001g0152 a0001c0002t0001g0153 others(2): Show a0001c0001t0002g0147 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0004g0195 a0001c0002t0004g0262	5	314	0.0159	-12	c.147 others(29): Show c.1473+605_1473+616delTACACACACACA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	14/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38907334	GTGTGTGT others(5): Show GTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0015 a0005c0017t0015	a0005c0017t0015g0208 a0005c0017t0015g0208	1	314	0.0032	-12	c.147 others(29): Show c.1473+603_1473+614delTATACACACACA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	14/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938509	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0160 a0001c0002t0001g0160	1	314	0.0032	-12	c.488 others(29): Show c.488+6890_488+6901delATATATATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938542	ATATATAT others(5): Show ATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03453.hp2 HG00558.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0003 a0001c0002t0001 a0001c0006t0003	a0001c0002t0001g0176 a0001c0006t0003g0308 a0001c0002t0001g0176 a0001c0006t0003g0308	2	314	0.0064	-12	c.488 others(29): Show c.488+6857_488+6868delAAAATATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938548	ATATTTTT others(5): Show ATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	314	0.0032	-12	c.488 others(29): Show c.488+6851_488+6862delAAAAAAAAAATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38963352	GATATATA others(5): Show GATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0308 a0001c0006t0003g0308	1	314	0.0032	-12	c.-27 others(31): Show c.-279-2941_-279-2930delATATATATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38987299	TCTCTCAC others(5): Show TCTCTCACACACA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01257.hp2 NA20805.hp2 others(1): Show HG01175.hp2 HG01257.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(1): Show a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0170	4	314	0.0127	-12	c.-27 others(33): Show c.-279-26888_-279-26877delTGTGTGTGAGAG	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38988030	GGCGCCCG others(5): Show GGCGCCCGGTGCA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02258.hp1 HG02280.hp2 others(11): Show HG01934.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 NA19043.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0009 others(5): Show a0001c0001 a0001c0002 a0001c0009 a0001c0011 a0001c0012 a0001c0016 a0003c0004 a0005c0017	a0001c0001t0001 a0001c0002t0004 a0001c0002t0014 others(6): Show a0001c0001t0001 a0001c0002t0004 a0001c0002t0014 a0001c0009t0007 a0001c0011t0011 a0001c0012t0001 a0001c0016t0001 a0003c0004t0001 a0005c0017t0015	a0001c0001t0001g0207 a0001c0002t0004g0262 a0001c0002t0014g0199 others(11): Show a0001c0001t0001g0207 a0001c0002t0004g0262 a0001c0002t0014g0199 a0001c0009t0007g0200 a0001c0009t0007g0201 a0001c0009t0007g0202 a0001c0009t0007g0203 a0001c0011t0011g0258 a0001c0011t0011g0259 a0001c0012t0001g0260 a0001c0012t0001g0261 a0001c0016t0001g0263 a0003c0004t0001g0206 a0005c0017t0015g0208	14	314	0.0446	-12	c.-27 others(33): Show c.-279-27619_-279-27608delTGCACCGGGCGC	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38995807	ATCTATCT others(5): Show ATCTATCTATCTG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0285 a0001c0001t0003g0285	1	314	0.0032	-12	c.-27 others(33): Show c.-279-35396_-279-35385delCAGATAGATAGA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	39012416	CTCTTTCT others(5): Show CTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02809.hp2 HG02723.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0238 a0001c0002t0001g0239	2	314	0.0064	-12	c.-28 others(33): Show c.-280+19952_-280+19963delAAGAAAGAAAGA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	165989028	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02647.hp1 HG02109.hp2 HG02647.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0041 a0001c0006t0041	a0001c0006t0041g0095 a0001c0006t0041g0248 a0001c0006t0041g0095 a0001c0006t0041g0248	2	356	0.0056	-12	c.22 others(23): Show c.2205_*2216delCACACACACACA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	29/29	2205		chr2	TogoVar
SCN1A_chr2_165980813_166133020	165989063	TGTGTGCG others(5): Show TGTGTGCGCGCGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01358.hp1 HG02040.hp2 HG02735.hp2 others(1): Show HG01358.hp1 HG02040.hp2 HG02735.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0058 a0001c0001t0022 a0001c0001t0058	a0001c0001t0022g0209 a0001c0001t0022g0216 a0001c0001t0022g0244 others(1): Show a0001c0001t0022g0209 a0001c0001t0022g0216 a0001c0001t0022g0244 a0001c0001t0058g0297	4	356	0.0112	-12	c.21 others(23): Show c.2170_*2181delGCGCGCGCACAC	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	29/29	2170		chr2	TogoVar
SCN1A_chr2_165980813_166133020	166103449	TTAAATAA others(5): Show TTAAATAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00642.hp1 HG01069.hp2 others(28): Show HG00423.hp2 HG00642.hp1 HG01069.hp2 HG01081.hp1 HG01167.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01884.hp1 HG01934.hp1 HG01975.hp1 HG02004.hp1 HG02040.hp1 HG02148.hp1 HG02293.hp2 HG02523.hp1 HG02572.hp2 HG02630.hp1 NA18939.hp2 NA18942.hp1 NA18969.hp1 NA18977.hp2 NA18987.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA19001.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19083.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0025 a0001c0001 a0002c0002 a0005c0025	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0016 a0001c0001t0023 a0001c0001t0043 a0001c0001t0050 a0001c0001t0079 a0001c0001t0080 a0001c0001t0090 a0001c0001t0091 a0002c0002t0015 a0005c0025t0011	a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0268 others(28): Show a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0268 a0001c0001t0003g0277 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0261 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0011g0253 a0001c0001t0011g0258 a0001c0001t0011g0264 a0001c0001t0011g0265 a0001c0001t0011g0282 a0001c0001t0016g0267 a0001c0001t0023g0252 a0001c0001t0043g0038 a0001c0001t0050g0249 a0001c0001t0079g0273 a0001c0001t0080g0251 a0001c0001t0090g0272 a0001c0001t0091g0266 a0002c0002t0015g0166 a0005c0025t0011g0254	31	356	0.0871	-12	c.-14 others(33): Show c.-142+23463_-142+23474delTTTATTTATTTA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28			chr2	TogoVar
SCN1B_chr19_35025470_35045449	35028744	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00438.hp1 others(72): Show HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01175.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01516.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02083.hp1 HG02083.hp2 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02683.hp1 HG02698.hp2 HG03492.hp1 HG03540.hp1 HG03831.hp2 HG04184.hp1 HG04228.hp1 NA18939.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18955.hp2 NA18962.hp1 NA18966.hp1 NA18968.hp1 NA18971.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18997.hp2 NA18998.hp2 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19081.hp1 NA19087.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 a0001c0002t0001 a0001c0002t0019 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0010 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0053 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0094 a0001c0001t0004g0001 a0001c0001t0007g0013 a0001c0001t0013g0005 a0001c0001t0015g0001 a0001c0002t0001g0001 a0001c0002t0001g0067 a0001c0002t0001g0070 a0001c0002t0001g0085 a0001c0002t0019g0001 a0001c0005t0001g0001	75	404	0.1856	-12	c.-20 others(23): Show c.-2076_-2065delTTTTTTTTTTTT	SCN1B	ENSG00000105711.14	transcript	ENST00000262631.11	protein_coding		1725		chr19	TogoVar
SCN1B_chr19_35025470_35045449	35029542	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	404	0.0025	-12	c.-12 others(23): Show c.-1278_-1267delAAAAAAAAAAAA	SCN1B	ENSG00000105711.14	transcript	ENST00000262631.11	protein_coding		927		chr19	TogoVar
SCN1B_chr19_35025470_35045449	35030437	GGCCGCCG others(5): Show GGCCGCCGCCGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG03710.hp1 HG06807.hp1 HG01168.hp2 HG03710.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0091 a0001c0001t0001g0002 a0001c0001t0001g0091	3	404	0.0074	-12	c.-38 others(21): Show c.-383_-372delGCCGCCGCCGCC	SCN1B	ENSG00000105711.14	transcript	ENST00000262631.11	protein_coding		32		chr19	TogoVar
SCN1B_chr19_35025470_35045449	35036732	CTATTATT others(5): Show CTATTATTATTAT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	404	0.0025	-12	c.449 others(29): Show c.449-2362_449-2351delATTATTATTATT	SCN1B	ENSG00000105711.14	transcript	ENST00000262631.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
SCN2A_chr2_165234414_165397304	165265468	GATCTATA others(5): Show GATCTATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	358	0.0028	-12	c.-52 others(31): Show c.-52+25831_-52+25842delCTATATATATAT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165265471	CTATATAT others(5): Show CTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18943.hp2 NA18946.hp2 others(2): Show HG03209.hp2 NA18943.hp2 NA18946.hp2 NA18985.hp1 NA18991.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0084 a0001c0002t0001g0227 others(2): Show a0001c0002t0001g0023 a0001c0002t0001g0084 a0001c0002t0001g0227 a0001c0002t0001g0233 a0001c0002t0001g0236	5	358	0.0140	-12	c.-52 others(31): Show c.-52+25865_-52+25876delATATATATATAT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165272764	TCACACAC others(5): Show TCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00741.hp1 HG02132.hp2 others(25): Show HG00673.hp1 HG00741.hp1 HG02132.hp2 HG02257.hp1 HG02523.hp1 HG02630.hp1 HG02647.hp1 HG02738.hp2 HG02818.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 NA18612.hp1 NA18940.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18959.hp1 NA18995.hp2 NA18999.hp1 NA19010.hp1 NA19054.hp1 NA19058.hp1 NA19066.hp2 NA19080.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0019 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0005 a0001c0004t0004 a0001c0008t0001 a0001c0019t0001 a0002c0003t0001	a0001c0001t0001g0036 a0001c0001t0002g0199 a0001c0001t0002g0301 others(24): Show a0001c0001t0001g0036 a0001c0001t0002g0199 a0001c0001t0002g0301 a0001c0001t0003g0330 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0008g0265 a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0032 a0001c0002t0005g0326 a0001c0004t0004g0226 a0001c0008t0001g0296 a0001c0008t0001g0337 a0001c0019t0001g0203 a0002c0003t0001g0012	28	358	0.0782	-12	c.-51 others(31): Show c.-51-22978_-51-22967delCACACACACACA	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291345	GTCGTTCG others(5): Show GTCGTTCGTTCCT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0187 a0001c0001t0007g0187	1	358	0.0028	-12	c.-51 others(29): Show c.-51-4425_-51-4414delGTTCGTTCCTTC	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291348	GTTCGTTC others(5): Show GTTCGTTCCTTCC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp2 others(22): Show HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG01516.hp1 HG01517.hp2 HG01943.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02109.hp1 HG02145.hp1 HG02717.hp1 HG02723.hp1 HG02886.hp2 HG03139.hp2 HG03209.hp1 NA18950.hp2 NA19010.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0002c0003t0001	a0001c0001t0001g0166 a0001c0001t0001g0202 a0001c0001t0001g0206 others(22): Show a0001c0001t0001g0166 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0228 a0001c0001t0001g0331 a0001c0001t0001g0335 a0001c0001t0002g0101 a0001c0001t0002g0140 a0001c0001t0002g0164 a0001c0001t0002g0168 a0001c0001t0002g0177 a0001c0001t0002g0191 a0001c0001t0002g0219 a0001c0001t0002g0248 a0001c0001t0002g0255 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0349 a0001c0001t0006g0282 a0001c0001t0009g0212 a0002c0003t0001g0305 a0002c0003t0001g0306 a0002c0003t0001g0315	25	358	0.0698	-12	c.-51 others(29): Show c.-51-4421_-51-4410delGTTCCTTCCTTC	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291352	GTTCCTTC others(5): Show GTTCCTTCCTTCC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01192.hp1 HG01243.hp1 others(19): Show HG00673.hp1 HG01192.hp1 HG01243.hp1 HG01943.hp2 HG02004.hp1 HG02074.hp2 HG02273.hp2 HG04228.hp2 NA18940.hp2 NA18951.hp2 NA18952.hp1 NA18959.hp1 NA18963.hp2 NA18988.hp1 NA18998.hp1 NA18999.hp1 NA19010.hp1 NA19043.hp2 NA19054.hp1 NA19066.hp2 NA19072.hp2 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0010 a0001c0002 a0001c0009 a0001c0010	a0001c0002t0001 a0001c0009t0001 a0001c0010t0001 a0001c0002t0001 a0001c0009t0001 a0001c0010t0001	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0005 others(18): Show a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0064 a0001c0002t0001g0069 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0091 a0001c0002t0001g0096 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0299 a0001c0009t0001g0041 a0001c0010t0001g0260	22	358	0.0615	-12	c.-51 others(29): Show c.-51-4367_-51-4356delTCCTTCCTTCCT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291482	CTTTCTTT others(5): Show CTTTCTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18952.hp1 NA18998.hp1 others(3): Show NA18940.hp2 NA18952.hp1 NA18998.hp1 NA19054.hp1 NA19066.hp2 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0007 others(3): Show a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0016	6	358	0.0168	-12	c.-51 others(29): Show c.-51-4290_-51-4279delTTTCTTTCTTTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291483	TTTCTTTC others(5): Show TTTCTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01346.hp2 HG01496.hp1 others(6): Show HG00642.hp1 HG01346.hp2 HG01496.hp1 HG02145.hp1 HG02602.hp1 HG02647.hp1 HG02738.hp1 HG03098.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0008t0001	a0001c0001t0001g0042 a0001c0001t0001g0285 a0001c0001t0001g0288 others(6): Show a0001c0001t0001g0042 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0298 a0001c0001t0001g0343 a0001c0001t0002g0249 a0001c0001t0003g0109 a0001c0001t0012g0341 a0001c0008t0001g0296	9	358	0.0251	-12	c.-51 others(29): Show c.-51-4287_-51-4276delCTTTCTTTTCTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291525	TTTCCTTC others(5): Show TTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00735.hp1 others(7): Show HG00099.hp2 HG00639.hp1 HG00735.hp1 HG01169.hp1 HG01256.hp2 HG01358.hp1 HG01516.hp2 NA18943.hp1 NA18945.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0002 a0001c0002t0001 a0001c0006t0002 a0001c0001t0002 a0001c0002t0001 a0001c0006t0002	a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0002g0082 others(7): Show a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0002g0082 a0001c0001t0002g0313 a0001c0001t0002g0332 a0001c0002t0001g0130 a0001c0002t0001g0134 a0001c0002t0001g0274 a0001c0002t0001g0314 a0001c0006t0002g0045	10	358	0.0279	-12	c.-51 others(29): Show c.-51-4209_-51-4198delCCTTCCTTCCTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291567	TCCTTCCT others(5): Show TCCTTCCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	358	0.0028	-12	c.-51 others(29): Show c.-51-4205_-51-4194delCCTTCCTTTCTC	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165306504	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02109.hp1 HG02451.hp2 others(4): Show HG01261.hp2 HG02109.hp1 HG02451.hp2 HG02630.hp2 HG02723.hp2 HG03139.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0015 a0001c0001 a0001c0006 a0001c0015	a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 others(2): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0006t0002 a0001c0015t0001	a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0007g0187 others(4): Show a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0013g0040 a0001c0006t0002g0045 a0001c0015t0001g0086	7	358	0.0196	-12	c.387 others(29): Show c.387-1306_387-1295delGTGTGTGTGTGT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165380119	TATTTATA others(5): Show TATTTATATGTTA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp1 HG02897.hp1 others(2): Show HG01891.hp1 HG02895.hp1 HG02897.hp1 HG03041.hp1 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0158 a0001c0004t0004g0185 a0001c0004t0004g0226 others(2): Show a0001c0004t0004g0158 a0001c0004t0004g0185 a0001c0004t0004g0226 a0001c0004t0004g0283 a0001c0004t0004g0284	5	358	0.0140	-12	c.430 others(29): Show c.4309-470_4309-459delTTATATGTTAAT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	23/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2B_chr11_118157806_118181639	118162074	GAGACAGA others(5): Show GAGACAGACAGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp1 others(195): Show HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp2 HG03017.hp1 HG03017.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18991.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(11): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0025 a0001c0001t0029 a0001c0001t0042 a0001c0001t0046 a0001c0001t0049 a0001c0001t0054 a0001c0001t0055 a0001c0001t0059	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(94): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0006g0036 a0001c0001t0006g0048 a0001c0001t0006g0092 a0001c0001t0006g0109 a0001c0001t0006g0118 a0001c0001t0006g0145 a0001c0001t0006g0163 a0001c0001t0006g0193 a0001c0001t0006g0205 a0001c0001t0009g0041 a0001c0001t0009g0055 a0001c0001t0009g0111 a0001c0001t0009g0119 a0001c0001t0009g0157 a0001c0001t0009g0164 a0001c0001t0014g0047 a0001c0001t0014g0175 a0001c0001t0014g0186 a0001c0001t0015g0042 a0001c0001t0015g0081 a0001c0001t0015g0106 a0001c0001t0017g0087 a0001c0001t0017g0095 a0001c0001t0017g0143 a0001c0001t0025g0184 a0001c0001t0029g0084 a0001c0001t0042g0094 a0001c0001t0046g0144 a0001c0001t0049g0168 a0001c0001t0054g0224 a0001c0001t0055g0141 a0001c0001t0059g0147	198	450	0.4400	-12	c.48 others(23): Show c.4801_*4812delGTCTGTCTGTCT	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding		731		chr11	TogoVar
SCN2B_chr11_118157806_118181639	118172509	GGCAGGCC others(5): Show GGCAGGCCCGCCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18747.hp2 NA18952.hp2 others(1): Show HG00408.hp2 NA18747.hp2 NA18952.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0194 a0001c0001t0001g0029 a0001c0001t0001g0194	4	450	0.0089	-12	c.71- others(27): Show c.71-3770_71-3759delTGGCGGGCCTGC	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding	1/3			chr11	TogoVar
SCN2B_chr11_118157806_118181639	118178896	ATTATTTT others(5): Show ATTATTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	450	0.0022	-12	c.-24 others(23): Show c.-2477_-2466delAAAAAAAAATAA	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding		2258		chr11	TogoVar
SCN2B_chr11_118157806_118181639	118179405	ATTCTTTT others(5): Show ATTCTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0230 a0001c0001t0007g0230	1	450	0.0022	-12	c.-29 others(23): Show c.-2986_-2975delAAAAAAAAAGAA	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding		2767		chr11	TogoVar

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