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
SCFD1_chr14_30617319_30740850	30625599	TTATAGGT others(13): Show TTATAGGTATAGGTATACCTA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG00738.hp1 others(3): Show HG00323.hp2 HG00733.hp2 HG00738.hp1 HG01109.hp2 HG01175.hp2 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 others(3): Show a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0321	6	326	0.0184	-20	c.62- others(35): Show c.62-2593_62-2574delCCTATATAGGTATAGGTATA	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCFD1_chr14_30617319_30740850	30659622	TAAACAGC others(13): Show TAAACAGCTCTGCTTTAATAA	T T	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	326	0.0031	-20	c.855 others(37): Show c.855+6038_855+6057delCAGCTCTGCTTTAATAAAAA	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	10/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCFD1_chr14_30617319_30740850	30703910	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA20752.hp2 HG02004.hp1 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0224 a0002c0002t0001g0264 a0002c0002t0001g0224 a0002c0002t0001g0264	2	232	0.0086	-20	c.149 others(39): Show c.1490+1569_1490+1588delTATATATATATATATATATA	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCFD1_chr14_30617319_30740850	30703944	TATATATA others(13): Show TATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	326	0.0031	-20	c.149 others(39): Show c.1490+1573_1490+1592delTATATATATATATATAAATA	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCFD2_chr4_52867982_53371061	52875802	CTATATAT others(13): Show CTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0051 a0001c0004t0003g0051	1	20	0.0500	-20	c.196 others(39): Show c.1963-1761_1963-1742delTATATATATATATATATATA	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	8/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	52913196	GGGATCCC others(13): Show GGGATCCCCAACCCCAGGCCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02602.hp2 NA20905.hp2 HG00140.hp1 HG02602.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0102 a0002c0002t0001g0118 a0002c0002t0001g0119	3	162	0.0185	-20	c.170 others(39): Show c.1708-5625_1708-5606delTGGCCTGGGGTTGGGGATCC	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	6/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53254805	TTTTTATT others(13): Show TTTTTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	28	0.0357	-20	c.131 others(41): Show c.1311+19001_1311+19020delTAAAATAAAATAAAATAAAA	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51704240	CATACATA others(13): Show CATACATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0298 a0001c0002t0009g0298	1	317	0.0032	-20	c.120 others(39): Show c.1207+3000_1207+3019delCATATATATATATATATATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32663032	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02040.hp1 HG02258.hp1 others(11): Show HG02027.hp2 HG02040.hp1 HG02258.hp1 HG02622.hp2 HG06807.hp1 NA18950.hp2 NA18991.hp2 NA18992.hp1 NA19030.hp2 NA19062.hp1 NA19064.hp1 NA19082.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0022 a0001c0001t0001g0179 a0001c0001t0001g0196 others(11): Show a0001c0001t0001g0022 a0001c0001t0001g0179 a0001c0001t0001g0196 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0307 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0323 a0001c0001t0001g0331 a0001c0001t0001g0376 a0001c0002t0003g0375	14	128	0.1094	-20	c.227 others(39): Show c.227-16706_227-16687delTATATATATATATATATATA	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB2A1_chr11_62203673_62218943	62213069	TACATATA others(13): Show TACATATATACACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03195.hp1 HG02717.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	2	412	0.0049	-20	c.244 others(35): Show c.244-647_244-628delCACATATATACACATATATA	SCGB2A1	ENSG00000124939.6	transcript	ENST00000244930.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB2B2_chr19_34585644_34682159	34645525	GACACACA others(13): Show GACACACACAGACACAGACAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00558.hp2 others(113): Show HG00140.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00733.hp1 HG00741.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18941.hp2 NA18944.hp1 NA18948.hp2 NA18956.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp2 NA19000.hp1 NA19001.hp2 NA19004.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19064.hp1 NA19065.hp2 NA19072.hp2 NA19077.hp2 NA19078.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0005 others(1): Show a0001c0001 a0002c0002 a0004c0005 a0005c0003	a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 others(36): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0027 a0001c0001t0033 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0134 a0002c0002t0004 a0004c0005t0076 a0005c0003t0078	a0001c0001t0006g0099 a0001c0001t0006g0112 a0001c0001t0006g0146 others(110): Show a0001c0001t0006g0099 a0001c0001t0006g0112 a0001c0001t0006g0146 a0001c0001t0006g0153 a0001c0001t0006g0156 a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0168 a0001c0001t0006g0170 a0001c0001t0006g0176 a0001c0001t0007g0123 a0001c0001t0007g0127 a0001c0001t0007g0130 a0001c0001t0007g0131 a0001c0001t0007g0143 a0001c0001t0007g0149 a0001c0001t0007g0169 a0001c0001t0007g0171 a0001c0001t0007g0173 a0001c0001t0007g0192 a0001c0001t0008g0100 a0001c0001t0008g0103 a0001c0001t0008g0104 a0001c0001t0008g0116 a0001c0001t0008g0136 a0001c0001t0008g0140 a0001c0001t0008g0166 a0001c0001t0009g0126 a0001c0001t0009g0129 a0001c0001t0009g0133 a0001c0001t0009g0134 a0001c0001t0009g0196 a0001c0001t0009g0205 a0001c0001t0009g0206 a0001c0001t0011g0113 a0001c0001t0011g0125 a0001c0001t0011g0181 a0001c0001t0011g0194 a0001c0001t0011g0195 a0001c0001t0011g0198 a0001c0001t0012g0124 a0001c0001t0012g0135 a0001c0001t0012g0148 a0001c0001t0012g0165 a0001c0001t0012g0193 a0001c0001t0012g0202 a0001c0001t0013g0108 a0001c0001t0013g0109 a0001c0001t0013g0110 a0001c0001t0013g0111 a0001c0001t0013g0120 a0001c0001t0013g0121 a0001c0001t0015g0161 a0001c0001t0015g0175 a0001c0001t0015g0188 a0001c0001t0015g0199 a0001c0001t0016g0102 a0001c0001t0016g0115 a0001c0001t0016g0118 a0001c0001t0016g0128 a0001c0001t0016g0147 a0001c0001t0017g0263 a0001c0001t0020g0157 a0001c0001t0020g0182 a0001c0001t0020g0184 a0001c0001t0021g0142 a0001c0001t0021g0155 a0001c0001t0021g0167 a0001c0001t0021g0183 a0001c0001t0026g0150 a0001c0001t0026g0152 a0001c0001t0026g0200 a0001c0001t0027g0105 a0001c0001t0027g0106 a0001c0001t0027g0107 a0001c0001t0033g0351 a0001c0001t0033g0352 a0001c0001t0033g0353 a0001c0001t0037g0172 a0001c0001t0038g0139 a0001c0001t0038g0154 a0001c0001t0041g0297 a0001c0001t0071g0101 a0001c0001t0072g0097 a0001c0001t0073g0137 a0001c0001t0074g0203 a0001c0001t0075g0141 a0001c0001t0077g0145 a0001c0001t0079g0098 a0001c0001t0080g0122 a0001c0001t0081g0174 a0001c0001t0082g0185 a0001c0001t0083g0117 a0001c0001t0084g0144 a0001c0001t0085g0180 a0001c0001t0086g0186 a0001c0001t0087g0158 a0001c0001t0088g0191 a0001c0001t0089g0179 a0001c0001t0134g0350 a0002c0002t0004g0001 a0002c0002t0004g0006 a0002c0002t0004g0119 a0002c0002t0004g0162 a0002c0002t0004g0163 a0002c0002t0004g0164 a0002c0002t0004g0178 a0002c0002t0004g0187 a0002c0002t0004g0189 a0002c0002t0004g0190 a0002c0002t0004g0197 a0004c0005t0076g0204 a0005c0003t0078g0114	116	361	0.3213	-20	c.-20 others(43): Show c.-2032+30085_-2032+30104delGTGTCTGTGTCTGTGTGTGT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB3A1_chr5_180585105_180596499	180594847	TGGGTGTG others(13): Show TGGGTGTGTGGGTGTGTGTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03579.hp2 HG03098.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	2	468	0.0043	-20	c.-34 others(31): Show c.-3405_-3386delCCACACACACCCACACACCC	SCGB3A1	ENSG00000161055.4	transcript	ENST00000292641.4	protein_coding		3349		chr5	TogoVar
SCHIP1_chr3_159268244_159902359	159432327	TGTGTGTG others(13): Show TGTGTGTGTGTGTGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp1 HG00642.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0066 a0001c0001t0001g0067	2	100	0.0200	-20	c.63+ others(39): Show c.63+158446_63+158465delTGTGTGTGTGTGAGAGAGAG	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159626171	TCTATCTA others(13): Show TCTATCTATCTAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp1 HG02622.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0031 a0001c0002t0002g0047 a0001c0001t0001g0031 a0001c0002t0002g0047	2	93	0.0215	-20	c.64- others(39): Show c.64-138271_64-138252delCTATCTATCTAGATAGATAG	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7			chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159694537	CAAGAAAG others(13): Show CAAGAAAGAAAGAAAGAAAGA	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02717.hp2 HG02886.hp1 others(8): Show HG01169.hp1 HG02717.hp2 HG02886.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03654.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0027 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0005g0080 a0001c0002t0001g0058 a0001c0002t0001g0086 a0001c0002t0002g0047	11	33	0.3333	-20	c.64- others(37): Show c.64-69854_64-69835delAAAGAAAGAAAGAAAGAAAG	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159704888	CTTTCTTT others(13): Show CTTTCTTTCTTTCTTTCTTTA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	100	0.0100	-20	c.64- others(37): Show c.64-59535_64-59516delATTTCTTTCTTTCTTTCTTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159713233	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA20300.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0085 a0001c0002t0001g0079 a0001c0002t0001g0085	2	28	0.0714	-20	c.64- others(37): Show c.64-51175_64-51156delGAAAGAAAGAAAGAAAGAAA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159750257	GTGTGTGT others(13): Show GTGTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00642.hp1 others(27): Show HG00438.hp1 HG00438.hp2 HG00642.hp1 HG00642.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01891.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02698.hp2 HG02717.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 NA18747.hp1 NA18747.hp2 NA19240.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(27): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0004g0059 a0001c0002t0001g0024 a0001c0002t0001g0054 a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0001g0082 a0001c0002t0001g0086 a0003c0005t0001g0053	30	76	0.3947	-20	c.64- others(37): Show c.64-14184_64-14165delGTGTGTATATATATATATAT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159828411	ATATATAC others(13): Show ATATATACGTATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01106.hp1 HG02698.hp2 others(1): Show HG00438.hp2 HG01106.hp1 HG02698.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0067 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0067 a0001c0001t0004g0059	4	100	0.0400	-20	c.760 others(39): Show c.760-37745_760-37726delCGTATATATATACGTATATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159891397	GGAGGGAG others(13): Show GGAGGGAGGGAGGAAGGGAGC	G G	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	100	0.0100	-20	c.131 others(37): Show c.1319-687_1319-668delAAGGGAGCGAGGGAGGGAGG	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIN_chr7_12565720_12665182	12632083	CATTTTAT others(13): Show CATTTTATTTTATTTTATTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00621.hp2 others(23): Show HG00544.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp2 HG01891.hp1 HG02015.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02723.hp2 HG02965.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03579.hp1 NA18906.hp2 NA19002.hp2 NA19030.hp1 NA19240.hp1 NA20129.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0008c0009	a0001c0001t0121 a0001c0001t0124 a0002c0002t0001 others(18): Show a0001c0001t0121 a0001c0001t0124 a0002c0002t0001 a0002c0002t0005 a0002c0002t0026 a0002c0002t0069 a0002c0002t0155 a0002c0002t0174 a0002c0002t0180 a0002c0003t0006 a0002c0003t0014 a0002c0003t0015 a0002c0003t0017 a0002c0003t0036 a0002c0003t0046 a0002c0003t0059 a0002c0003t0143 a0002c0003t0144 a0002c0003t0146 a0002c0003t0165 a0008c0009t0110	a0001c0001t0121g0201 a0001c0001t0124g0185 a0002c0002t0001g0276 others(22): Show a0001c0001t0121g0201 a0001c0001t0124g0185 a0002c0002t0001g0276 a0002c0002t0005g0262 a0002c0002t0026g0352 a0002c0002t0069g0269 a0002c0002t0155g0307 a0002c0002t0174g0324 a0002c0002t0180g0245 a0002c0003t0006g0063 a0002c0003t0006g0234 a0002c0003t0014g0069 a0002c0003t0015g0065 a0002c0003t0015g0342 a0002c0003t0017g0231 a0002c0003t0017g0233 a0002c0003t0036g0006 a0002c0003t0046g0061 a0002c0003t0046g0064 a0002c0003t0059g0362 a0002c0003t0143g0232 a0002c0003t0144g0072 a0002c0003t0146g0062 a0002c0003t0165g0068 a0008c0009t0110g0240	26	99	0.2626	-20	c.131 others(39): Show c.1319+2908_1319+2927delTTTTATTTTATTTTATTTTA	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCLT1_chr4_128878993_129098539	128894363	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18949.hp2 NA18961.hp1 others(8): Show NA18945.hp1 NA18949.hp2 NA18961.hp1 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18985.hp1 NA19010.hp2 NA19081.hp1 NA19087.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0079 a0001c0002t0001g0080 others(8): Show a0001c0002t0001g0042 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0092	11	18	0.6111	-20	c.183 others(39): Show c.1830-3246_1830-3227delGTGTGTGTGTGTGTGTGTGT	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	18/20			chr4	TogoVar
SCML4_chr6_107697154_107829313	107751572	ATCTTTCT others(13): Show ATCTTTCTTTCTTTCTTTCTT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02895.hp1 HG02897.hp1 others(3): Show HG02155.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03516.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0002t0001	a0001c0001t0004g0117 a0001c0001t0006g0187 a0001c0001t0006g0192 others(3): Show a0001c0001t0004g0117 a0001c0001t0006g0187 a0001c0001t0006g0192 a0001c0001t0013g0119 a0001c0001t0013g0121 a0001c0002t0001g0153	6	59	0.1017	-20	c.157 others(37): Show c.157-1779_157-1760delAAGAAAGAAAGAAAGAAAGA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	2/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02896.hp2 HG01167.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0015 a0001c0001t0001 a0001c0003t0015	a0001c0001t0001g0159 a0001c0003t0015g0162 a0001c0001t0001g0159 a0001c0003t0015g0162	2	175	0.0114	-20	c.-59 others(37): Show c.-59-5856_-59-5837delATATATATATATATATATAT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107813369	ATTATATA others(13): Show ATTATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18973.hp2 NA18992.hp1 NA18957.hp2 NA18973.hp2 NA18992.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0009 a0001c0005t0011 a0001c0005t0030 a0001c0002t0009 a0001c0005t0011 a0001c0005t0030	a0001c0002t0009g0079 a0001c0005t0011g0082 a0001c0005t0030g0080 a0001c0002t0009g0079 a0001c0005t0011g0082 a0001c0005t0030g0080	3	238	0.0126	-20	c.-60 others(39): Show c.-60+10737_-60+10756delATATATATATATATATATAA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107813405	TATATATA others(13): Show TATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG01358.hp1 others(15): Show HG00140.hp1 HG00544.hp2 HG01358.hp1 HG01516.hp2 HG01934.hp2 HG01952.hp1 HG02132.hp2 HG02155.hp2 HG02738.hp1 HG02738.hp2 HG03704.hp2 HG03710.hp2 NA18948.hp1 NA18950.hp1 NA18964.hp1 NA18971.hp1 NA18977.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004 a0002c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0002t0005 a0001c0005t0005 a0002c0004t0006 a0002c0004t0021 a0002c0006t0005	a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0179 others(15): Show a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0179 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0234 a0001c0001t0003g0190 a0001c0001t0006g0187 a0001c0001t0006g0189 a0001c0001t0006g0221 a0001c0001t0008g0184 a0001c0002t0005g0181 a0001c0002t0005g0183 a0001c0002t0005g0244 a0001c0005t0005g0182 a0002c0004t0006g0185 a0002c0004t0021g0242 a0002c0006t0005g0180	18	223	0.0807	-20	c.-60 others(39): Show c.-60+10701_-60+10720delTTATATATATATATATATAT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107824462	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0078	1	3	0.3333	-20	c.-41 others(29): Show c.-416_-397delCACACACACACACACACACA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding		150		chr6	TogoVar
SCN11A_chr3_38840764_39056944	38877094	GTATATAT others(13): Show GTATATATATGGTGTATATAC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02723.hp1 HG02145.hp1 HG02145.hp2 HG02723.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 a0001c0001 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0006t0003 a0002c0003t0001 a0001c0001t0001 a0001c0006t0003 a0002c0003t0001	a0001c0001t0001g0142 a0001c0006t0003g0288 a0002c0003t0001g0031 a0001c0001t0001g0142 a0001c0006t0003g0288 a0002c0003t0001g0031	3	312	0.0096	-20	c.339 others(39): Show c.3393+2836_3393+2855delGTATATACACCATATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38889802	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp1 HG01175.hp2 others(13): Show HG00642.hp1 HG01109.hp1 HG01175.hp2 HG02071.hp2 HG02559.hp2 HG02922.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03486.hp2 HG03540.hp1 HG03654.hp2 NA18945.hp1 NA18999.hp2 NA19060.hp1 NA20905.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0015 a0008c0017	a0001c0001t0003 a0001c0001t0019 a0001c0002t0001 others(3): Show a0001c0001t0003 a0001c0001t0019 a0001c0002t0001 a0001c0007t0005 a0001c0015t0003 a0008c0017t0015	a0001c0001t0003g0278 a0001c0001t0003g0310 a0001c0001t0019g0081 others(13): Show a0001c0001t0003g0278 a0001c0001t0003g0310 a0001c0001t0019g0081 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0168 a0001c0002t0001g0181 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0007t0005g0301 a0001c0007t0005g0302 a0001c0007t0005g0304 a0001c0007t0005g0309 a0001c0015t0003g0285 a0001c0015t0003g0286 a0008c0017t0015g0208	16	77	0.2078	-20	c.283 others(39): Show c.2836-3584_2836-3565delATTTTATTTTATTTTATTTT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	19/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38907347	TATCTATA others(13): Show TATCTATATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp2 HG02559.hp1 HG02818.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0011 a0001c0011t0011	a0001c0011t0011g0256 a0001c0011t0011g0257 a0001c0011t0011g0256 a0001c0011t0011g0257	2	311	0.0064	-20	c.147 others(37): Show c.1473+582_1473+601delGTGTGTGTGTATATATAGAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	14/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938509	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0202 a0001c0009t0007g0202	1	254	0.0039	-20	c.488 others(37): Show c.488+6882_488+6901delATATATATATATATATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166123223	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	10	0.1000	-20	c.-14 others(39): Show c.-142+3681_-142+3700delTTTTTTTTTTTTTTTTTTTT	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291345	GTCGTTCG others(13): Show GTCGTTCGTTCCTTCCTTCCT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp1 HG01074.hp1 others(7): Show HG00639.hp1 HG01071.hp1 HG01074.hp1 HG01515.hp2 HG01517.hp1 HG02004.hp2 HG02572.hp1 HG02572.hp2 NA18943.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007	a0001c0001t0002 a0001c0001t0016 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0016 a0001c0002t0001 a0001c0006t0002 a0001c0007t0002	a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 others(7): Show a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0272 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0016g0304 a0001c0002t0001g0314 a0001c0006t0002g0045 a0001c0007t0002g0133	10	265	0.0377	-20	c.-51 others(37): Show c.-51-4425_-51-4406delGTTCGTTCCTTCCTTCCTTC	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291348	GTTCGTTC others(13): Show GTTCGTTCCTTCCTTCCTTCC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18945.hp2 NA18959.hp2 others(1): Show HG02055.hp2 NA18945.hp2 NA18959.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0147 a0001c0001t0002g0149 others(1): Show a0001c0001t0002g0038 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0356	4	246	0.0163	-20	c.-51 others(37): Show c.-51-4421_-51-4402delGTTCCTTCCTTCCTTCCTTC	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291436	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18959.hp2 NA19009.hp1 others(1): Show NA18945.hp2 NA18959.hp2 NA19009.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0147 a0001c0001t0002g0149 others(1): Show a0001c0001t0002g0038 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0248	4	271	0.0148	-20	c.-51 others(37): Show c.-51-4299_-51-4280delCTTTCTTTCTTTCTTTCTTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291475	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01884.hp1 HG02109.hp2 others(2): Show HG01099.hp1 HG01884.hp1 HG02109.hp2 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0269 a0001c0001t0001g0286 others(2): Show a0001c0001t0001g0256 a0001c0001t0001g0269 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0348	5	356	0.0140	-20	c.-51 others(37): Show c.-51-4295_-51-4276delCTTTCTTTCTTTCTTTTCTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165306504	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG00738.hp2 others(4): Show HG00140.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01934.hp2 HG01975.hp2 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0001 a0002c0003t0001 a0001c0005t0001 a0002c0003t0001	a0001c0005t0001g0186 a0001c0005t0001g0350 a0002c0003t0001g0003 others(4): Show a0001c0005t0001g0186 a0001c0005t0001g0350 a0002c0003t0001g0003 a0002c0003t0001g0135 a0002c0003t0001g0307 a0002c0003t0001g0308 a0002c0003t0001g0309	7	19	0.3684	-20	c.387 others(37): Show c.387-1314_387-1295delGTGTGTGTGTGTGTGTGTGT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165375022	TTTCTTCC others(13): Show TTTCTTCCTCATAATGAGATA	T T	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0227 a0001c0002t0001g0227	1	356	0.0028	-20	c.425 others(35): Show c.4254+58_4254+77delTCTTCCTCATAATGAGATAT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN3A_chr2_165082526_165209050	165201499	AAGGAGGT others(13): Show AAGGAGGTTCGTAATCATGTT	A A	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0070 a0001c0001t0015g0070	1	312	0.0032	-20	c.-24 others(39): Show c.-248+2304_-248+2323delAACATGATTACGAACCTCCT	SCN3A	ENSG00000153253.20	transcript	ENST00000283254.12	protein_coding	1/27			chr2	TogoVar
SCN3B_chr11_123624188_123659624	123644800	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02257.hp1 HG02257.hp2 others(13): Show HG01257.hp2 HG02257.hp1 HG02257.hp2 HG02559.hp2 HG02615.hp2 HG02647.hp2 HG02895.hp2 HG02897.hp2 HG03098.hp2 HG03225.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0047 a0001c0001t0053 a0001c0001t0064 a0001c0002t0004 a0001c0004t0026	a0001c0001t0001g0021 a0001c0001t0001g0147 a0001c0001t0004g0213 others(8): Show a0001c0001t0001g0021 a0001c0001t0001g0147 a0001c0001t0004g0213 a0001c0001t0007g0049 a0001c0001t0009g0048 a0001c0001t0013g0306 a0001c0001t0047g0073 a0001c0001t0053g0307 a0001c0001t0064g0193 a0001c0002t0004g0305 a0001c0004t0026g0066	16	262	0.0611	-20	c.219 others(35): Show c.219+767_219+786delATATATATATATATATATAT	SCN3B	ENSG00000166257.10	transcript	ENST00000299333.8	protein_coding	3/6			chr11	TogoVar
SCN4A_chr17_63933554_63977918	63935848	CAATTTTA others(13): Show CAATTTTATCTTTTCAAAGAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0021 a0021	a0021c0052 a0021c0052	a0021c0052t0020 a0021c0052t0020	a0021c0052t0020g0199 a0021c0052t0020g0199	1	354	0.0028	-20	c.49 others(31): Show c.4903_*4922delTTCTTTGAAAAGATAAAATT	SCN4A	ENSG00000007314.12	transcript	ENST00000435607.3	protein_coding		2705		chr17	TogoVar
SCN7A_chr2_166398573_166499249	166414265	CACACACA others(13): Show CACACACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0282 a0004c0004t0005g0282	1	318	0.0031	-20	c.341 others(39): Show c.3415-1164_3415-1145delATATATATATATATGTGTGT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166414295	TATATATA others(13): Show TATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00673.hp2 others(38): Show HG00438.hp1 HG00544.hp2 HG00673.hp2 HG01346.hp2 HG01928.hp2 HG01943.hp1 HG01981.hp1 HG02027.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02135.hp1 HG02148.hp1 HG02300.hp2 HG02735.hp1 HG03654.hp1 HG04204.hp1 NA18941.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18979.hp1 NA18980.hp2 NA18987.hp2 NA18988.hp2 NA18993.hp1 NA19000.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19064.hp1 NA19068.hp2 NA19072.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp2	a0001 a0007 a0021 others(2): Show a0001 a0007 a0021 a0028 a0029	a0001c0001 a0007c0007 a0021c0022 others(2): Show a0001c0001 a0007c0007 a0021c0022 a0028c0023 a0029c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0017 a0001c0001t0027 a0007c0007t0002 a0021c0022t0002 a0028c0023t0002 a0029c0026t0002	a0001c0001t0001g0262 a0001c0001t0002g0015 a0001c0001t0002g0216 others(36): Show a0001c0001t0001g0262 a0001c0001t0002g0015 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0230 a0001c0001t0002g0234 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0261 a0001c0001t0004g0247 a0001c0001t0007g0014 a0001c0001t0007g0227 a0001c0001t0007g0228 a0001c0001t0007g0229 a0001c0001t0007g0233 a0001c0001t0007g0235 a0001c0001t0007g0257 a0001c0001t0007g0260 a0001c0001t0017g0256 a0001c0001t0027g0224 a0007c0007t0002g0225 a0007c0007t0002g0238 a0007c0007t0002g0239 a0007c0007t0002g0240 a0007c0007t0002g0241 a0007c0007t0002g0242 a0007c0007t0002g0244 a0007c0007t0002g0245 a0007c0007t0002g0250 a0007c0007t0002g0258 a0007c0007t0002g0263 a0021c0022t0002g0226 a0028c0023t0002g0246 a0029c0026t0002g0243	41	391	0.1049	-20	c.341 others(39): Show c.3415-1194_3415-1175delGTGTATATATATATATATAT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN8A_chr12_51586233_51817864	51640212	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0199 a0001c0005t0014g0200 a0001c0005t0014g0199 a0001c0005t0014g0200	2	7	0.2857	-20	c.-54 others(39): Show c.-54-22530_-54-22511delTTTTTTTTTTTTTTTTTTTT	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN8A_chr12_51586233_51817864	51677056	GTTTTATT others(13): Show GTTTTATTTTATTTTATTTTA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA19240.hp2 NA21309.hp2 HG04204.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0018 a0001c0001t0003 a0001c0001t0017 a0001c0001t0018	a0001c0001t0003g0145 a0001c0001t0017g0111 a0001c0001t0018g0110 a0001c0001t0003g0145 a0001c0001t0017g0111 a0001c0001t0018g0110	3	75	0.0400	-20	c.277 others(37): Show c.277-7082_277-7063delTTTTATTTTATTTTATTTTA	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN9A_chr2_166190185_166380944	166191681	ACACACAC others(13): Show ACACACACATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG01256.hp1 others(8): Show HG00639.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG02040.hp1 HG02129.hp2 HG02698.hp1 HG03239.hp1 NA18968.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0003t0002 a0001c0005t0002	a0001c0001t0001g0042 a0001c0001t0002g0090 a0001c0001t0002g0101 others(8): Show a0001c0001t0001g0042 a0001c0001t0002g0090 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0179 a0001c0001t0017g0111 a0001c0001t0017g0112 a0001c0003t0002g0105 a0001c0003t0002g0284 a0001c0005t0002g0166	11	294	0.0374	-20	c.69 others(31): Show c.6971_*6990delCATATATATATATGTGTGTG	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding		3503		chr2	TogoVar
SCN9A_chr2_166190185_166380944	166191682	CACACACA others(13): Show CACACACATATATATATATGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01099.hp1 HG00544.hp1 HG01099.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0025 a0006c0010t0002 a0001c0001t0025 a0006c0010t0002	a0001c0001t0025g0103 a0006c0010t0002g0113 a0001c0001t0025g0103 a0006c0010t0002g0113	2	267	0.0075	-20	c.69 others(31): Show c.6970_*6989delACATATATATATATGTGTGT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding		3502		chr2	TogoVar
SCN9A_chr2_166190185_166380944	166199975	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02896.hp1 HG02897.hp1 others(1): Show HG02615.hp2 HG02896.hp1 HG02897.hp1 NA20129.hp1	a0001 a0013 a0001 a0013	a0001c0003 a0001c0018 a0013c0032 a0001c0003 a0001c0018 a0013c0032	a0001c0003t0013 a0001c0018t0033 a0013c0032t0013 a0001c0003t0013 a0001c0018t0033 a0013c0032t0013	a0001c0003t0013g0289 a0001c0018t0033g0291 a0013c0032t0013g0082 others(1): Show a0001c0003t0013g0289 a0001c0018t0033g0291 a0013c0032t0013g0082 a0013c0032t0013g0183	4	23	0.1739	-20	c.477 others(37): Show c.4775-131_4775-112delAAAAAAAAAAAAAAAAAAAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166311329	CCTATATA others(13): Show CCTATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp1 NA18906.hp1 HG00741.hp2 HG01243.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002	a0001c0002t0001g0201 a0001c0003t0001g0254 a0001c0003t0002g0105 a0001c0002t0001g0201 a0001c0003t0001g0254 a0001c0003t0002g0105	3	158	0.0190	-20	c.258 others(35): Show c.258+150_258+169delATATATATATATATATATAG	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	2/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166340541	CCTTTCTT others(13): Show CCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0063 a0001c0063	a0001c0063t0029 a0001c0063t0029	a0001c0063t0029g0049 a0001c0063t0029g0049	1	146	0.0068	-20	c.-50 others(39): Show c.-50-28755_-50-28736delAAAGAAAGAAAGAAAGAAAG	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar

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