JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SCAMP1_chr5_78355617_78485739	78430165	T T	TTATAAAT others(23): Show TTATAAATACTGTATTTATTTATAAATACAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0138 a0001c0001t0025g0138	1	332	0.0030	30	c.632 others(47): Show c.632+8208_632+8209insAAATACTGTATTTATTTATAAATACAGT AT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430222	T T	TTATAAAT others(23): Show TTATAAATACAGTATTTATTTATAAATACAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0171 a0002c0003t0007g0171	1	332	0.0030	30	c.632 others(47): Show c.632+8265_632+8266insAAATACAGTATTTATTTATAAATACAGT AT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430222	T T	TTATTTAT others(23): Show TTATTTATAAATACTGTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03516.hp2 HG01891.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0194 a0001c0001t0015g0195 a0001c0001t0015g0194 a0001c0001t0015g0195	2	332	0.0060	30	c.632 others(47): Show c.632+8275_632+8276insTGTATTTATAAATACTGTATTTATAAAT AC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78447973	C C	CCTCCTCC others(23): Show CCTCCTCCCCCGTCCTCTCCTCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03195.hp2 HG03041.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0139 a0001c0001t0018g0140 a0001c0001t0018g0139 a0001c0001t0018g0140	2	332	0.0060	30	c.633 others(47): Show c.633-1952_633-1923dupCCCGTCCTCTCCTCCTCCCTCCTCTCCT CC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0002 a0001c0001t0019g0002	1	370	0.0027	30	c.-47 others(41): Show c.-4728_-4727insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCAPER_chr15_76342904_76910340	76428866	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03654.hp1 HG04184.hp2 others(6): Show HG02809.hp1 HG03654.hp1 HG04184.hp2 NA18950.hp2 NA18973.hp1 NA19043.hp2 NA19065.hp1 NA19077.hp1 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0016	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0006 a0016c0019	a0001c0001t0001 a0002c0002t0002 a0003c0003t0002 others(2): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0002 a0004c0006t0001 a0016c0019t0001	a0001c0001t0001g0013 a0002c0002t0002g0224 a0002c0002t0002g0230 others(6): Show a0001c0001t0001g0013 a0002c0002t0002g0224 a0002c0002t0002g0230 a0002c0002t0002g0256 a0002c0002t0002g0309 a0003c0003t0002g0206 a0004c0006t0001g0125 a0004c0006t0001g0139 a0016c0019t0001g0127	9	312	0.0289	30	c.331 others(49): Show c.3311+5211_3311+5212insTATATATATATATATATATATATATA TATA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652371	C C	CACACACA others(23): Show CACACACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	312	0.0032	30	c.264 others(51): Show c.2645+13281_2645+13282insATATATATATATATATATATATGT GTGTGT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652371	C C	CACACACA others(23): Show CACACACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0223 a0002c0002t0002g0223	1	312	0.0032	30	c.264 others(51): Show c.2645+13281_2645+13282insATATATATATATATATATATATAT GTGTGT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76726124	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18948.hp2 HG03195.hp2 NA18948.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0013 a0001c0001 a0009c0013	a0001c0001t0003 a0009c0013t0003 a0001c0001t0003 a0009c0013t0003	a0001c0001t0003g0156 a0009c0013t0003g0123 a0001c0001t0003g0156 a0009c0013t0003g0123	2	312	0.0064	30	c.216 others(49): Show c.2165+2441_2165+2470dupATATATATATATATATATATATATAT ATAT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	17/31			chr15	TogoVar
SCARA5_chr8_27864883_27997673	27918944	A A	AAGGAGGA others(23): Show AAGGAGGAGGGGAAGGAGGAGGAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp2 HG01168.hp1 others(6): Show HG00438.hp1 HG00741.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp1 HG01496.hp1 HG02040.hp2 HG02056.hp2 HG02523.hp2	a0004 a0006 a0004 a0006	a0004c0012 a0004c0028 a0006c0026 others(1): Show a0004c0012 a0004c0028 a0006c0026 a0006c0027	a0004c0012t0002 a0004c0012t0005 a0004c0012t0007 others(5): Show a0004c0012t0002 a0004c0012t0005 a0004c0012t0007 a0004c0012t0030 a0004c0012t0061 a0004c0028t0004 a0006c0026t0008 a0006c0027t0003	a0004c0012t0002g0074 a0004c0012t0005g0137 a0004c0012t0005g0139 others(6): Show a0004c0012t0002g0074 a0004c0012t0005g0137 a0004c0012t0005g0139 a0004c0012t0007g0040 a0004c0012t0030g0038 a0004c0012t0061g0162 a0004c0028t0004g0201 a0006c0026t0008g0268 a0006c0027t0003g0295	9	314	0.0287	30	c.916 others(47): Show c.916+2626_916+2627insCCTTCTCCTCCTCCTCCTTCCCCTCCTC CT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARB1_chr12_124771856_124868864	124781775	G G	GTTTGTTT others(23): Show GTTTGTTTGTTTGTGCTCAATCTGGCAATCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01106.hp1 HG01496.hp1 others(1): Show HG01099.hp1 HG01106.hp1 HG01496.hp1 HG02293.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0001c0002 a0002c0008	a0001c0002t0009 a0002c0008t0009 a0001c0002t0009 a0002c0008t0009	a0001c0002t0009g0051 a0001c0002t0009g0054 a0001c0002t0009g0055 others(1): Show a0001c0002t0009g0051 a0001c0002t0009g0054 a0001c0002t0009g0055 a0002c0008t0009g0016	4	356	0.0112	30	c.153 others(47): Show c.1530+878_1530+907dupGGATTGCCAGATTGAGCACAAACAAACA AA	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	12/12			chr12	TogoVar
SCART1_chr10_133448945_133474760	133460471	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0166 a0004c0005t0005g0166	1	434	0.0023	30	c.196 others(47): Show c.1969+319_1969+320insATATATATATATATATATATATATATAT AT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCART1_chr10_133448945_133474760	133460496	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0003 a0003c0024t0003	a0003c0024t0003g0106 a0003c0024t0003g0106	1	434	0.0023	30	c.196 others(47): Show c.1969+327_1969+328insATATATATATATATATATATATATATTT TT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCD5_chr4_82624539_82803796	82670642	C C	CATATCAA others(23): Show CATATCAATTCCATATCAATTGATATGGCAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG00673.hp2 others(71): Show HG00558.hp1 HG00642.hp1 HG00673.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01261.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02132.hp1 HG02165.hp1 HG02280.hp2 HG02486.hp2 HG02615.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG04199.hp1 HG06807.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18955.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18968.hp1 NA18986.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA19007.hp1 NA19060.hp2 NA19077.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0030 a0001c0001t0033	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0103 others(71): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0103 a0001c0001t0001g0152 a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0002g0013 a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0122 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0001t0003g0012 a0001c0001t0003g0048 a0001c0001t0003g0073 a0001c0001t0003g0078 a0001c0001t0003g0094 a0001c0001t0003g0111 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0004g0018 a0001c0001t0004g0027 a0001c0001t0004g0100 a0001c0001t0004g0155 a0001c0001t0004g0164 a0001c0001t0004g0169 a0001c0001t0004g0173 a0001c0001t0009g0193 a0001c0001t0010g0196 a0001c0001t0010g0199 a0001c0001t0011g0004 a0001c0001t0011g0010 a0001c0001t0012g0092 a0001c0001t0012g0181 a0001c0001t0016g0192 a0001c0001t0018g0001 a0001c0001t0019g0003 a0001c0001t0022g0182 a0001c0001t0024g0051 a0001c0001t0030g0203 a0001c0001t0033g0210	74	210	0.3524	30	c.569 others(49): Show c.569+10035_569+10064dupTTGCCATATCAATTGATATGGAATTG ATAT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82670716	A A	ATCAATTG others(23): Show ATCAATTGATATGGCAAATATCAATTCCATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp1 HG02486.hp1 others(5): Show HG01243.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02897.hp1 HG02976.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0029	a0001c0001t0001g0075 a0001c0001t0002g0072 a0001c0001t0005g0065 others(5): Show a0001c0001t0001g0075 a0001c0001t0002g0072 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0071 a0001c0001t0005g0077 a0001c0002t0029g0207	8	210	0.0381	30	c.569 others(47): Show c.569+9961_569+9990dupCATGGAATTGATATTTGCCATATCAATT GA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82670725	T T	TATGGCAA others(23): Show TATGGCAAATATCAATTCCATGTCAATTGAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	210	0.0048	30	c.569 others(47): Show c.569+9981_569+9982insGTCAATTGACATGGAATTGATATTTGCC AT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCEL_chr13_77530706_77650263	77532794	T T	TTGTTGTT others(23): Show TTGTTGTTTATTCTGAATTTTGCTGTGAACC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0128 a0001c0004t0002g0128	1	356	0.0028	30	c.-30 others(41): Show c.-3050_-3049insTGTTGTTTATTCTGAATTTTGCTGTGAACC	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding		2911		chr13	TogoVar
SCEL_chr13_77530706_77650263	77633442	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19084.hp1 NA19066.hp2 NA19084.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0301 a0002c0001t0001g0302 a0002c0001t0001g0301 a0002c0001t0001g0302	2	356	0.0056	30	c.169 others(47): Show c.1692-913_1692-912insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCFD2_chr4_52867982_53371061	53140392	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02735.hp1 HG02258.hp1 HG02451.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0081 a0001c0001t0002g0057 a0001c0001t0010g0061 a0001c0001t0001g0081 a0001c0001t0002g0057 a0001c0001t0010g0061	3	162	0.0185	30	c.156 others(49): Show c.1561+4940_1561+4941insATATATATATATATATATATATATAT ATTT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51704764	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01515.hp2 HG01993.hp2 others(3): Show HG00323.hp1 HG01515.hp2 HG01993.hp2 HG02735.hp2 HG03041.hp1 NA18982.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0003c0004t0001	a0001c0001t0001g0235 a0001c0001t0001g0309 a0001c0001t0003g0027 others(3): Show a0001c0001t0001g0235 a0001c0001t0001g0309 a0001c0001t0003g0027 a0001c0001t0003g0039 a0001c0001t0005g0078 a0003c0004t0001g0272	6	402	0.0149	30	c.120 others(49): Show c.1207+3522_1207+3551dupTATATATATATATATATATATATATA TATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657199	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19010.hp1 NA18998.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0107 a0001c0001t0001g0108	2	415	0.0048	30	c.226 others(49): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp1 HG02647.hp2 others(4): Show HG02280.hp1 HG02615.hp1 HG02647.hp2 HG02717.hp1 HG02922.hp1 HG03516.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0093 a0001c0001t0001g0223 a0001c0001t0001g0233 others(4): Show a0001c0001t0001g0093 a0001c0001t0001g0223 a0001c0001t0001g0233 a0001c0001t0001g0279 a0001c0001t0001g0371 a0001c0001t0001g0377 a0001c0001t0007g0031	7	415	0.0169	30	c.226 others(49): Show c.226+13394_226+13395insATATATATATATATATATATATATAT GTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C2_chr17_132569_144067	140948	T T	TGGTGAGG others(23): Show TGGTGAGGGGACATGGTGAGGGGAGCATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01070.hp2 others(41): Show HG00639.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01516.hp2 HG01884.hp1 HG02027.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03139.hp2 HG03195.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp2 HG03834.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18940.hp2 NA18961.hp2 NA18982.hp2 NA19030.hp1 NA19030.hp2 NA19066.hp1 NA19068.hp2 NA19072.hp2 NA19079.hp2 NA19090.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0013 a0002c0002t0001g0027 a0002c0002t0001g0003 a0002c0002t0001g0013 a0002c0002t0001g0027	44	402	0.1095	30	c.20 others(41): Show c.2006_*2007insGGTGAGGGGACATGGTGAGGGGAGCATGGG	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1882		chr17	TogoVar
SCGB2A1_chr11_62203673_62218943	62213089	C C	CATATATA others(23): Show CATATATACACATATATACACATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	442	0.0023	30	c.244 others(45): Show c.244-636_244-635insTATATACACATATATACACATATATATATA	SCGB2A1	ENSG00000124939.6	transcript	ENST00000244930.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB2A1_chr11_62203673_62218943	62213106	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	442	0.0023	30	c.244 others(45): Show c.244-619_244-618insATATATATATATATATATATATATATTTTT	SCGB2A1	ENSG00000124939.6	transcript	ENST00000244930.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB2B2_chr19_34585644_34682159	34608660	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18941.hp2 NA18939.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0100 a0001c0001t0027 a0001c0001t0100	a0001c0001t0027g0100 a0001c0001t0100g0246 a0001c0001t0027g0100 a0001c0001t0100g0246	2	370	0.0054	30	c.-20 others(53): Show c.-2031-12067_-2031-12066insATATATATATATATATATATAT ATATATAT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34608684	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG04199.hp2 HG03669.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0123 a0001c0001t0050 a0001c0001t0123	a0001c0001t0050g0347 a0001c0001t0123g0334 a0001c0001t0050g0347 a0001c0001t0123g0334	2	370	0.0054	30	c.-20 others(53): Show c.-2031-12091_-2031-12090insGTATATATATATATATATATAT ATATATAT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34669714	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp1 HG00741.hp2 others(33): Show HG00140.hp2 HG00621.hp1 HG00741.hp2 HG01099.hp1 HG01099.hp2 HG01891.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03540.hp1 HG03579.hp1 HG03927.hp1 NA18522.hp1 NA18956.hp2 NA18961.hp2 NA18975.hp1 NA19030.hp1 NA19043.hp1 NA19077.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(15): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0033 a0001c0001t0066 a0001c0001t0081 a0001c0001t0082 a0001c0001t0085 a0001c0001t0086 a0001c0001t0088 a0001c0001t0089 a0002c0002t0004	a0001c0001t0001g0083 a0001c0001t0006g0171 a0001c0001t0007g0188 others(31): Show a0001c0001t0001g0083 a0001c0001t0006g0171 a0001c0001t0007g0188 a0001c0001t0009g0192 a0001c0001t0009g0202 a0001c0001t0011g0177 a0001c0001t0011g0191 a0001c0001t0011g0193 a0001c0001t0011g0194 a0001c0001t0012g0189 a0001c0001t0015g0170 a0001c0001t0015g0175 a0001c0001t0015g0182 a0001c0001t0020g0172 a0001c0001t0020g0181 a0001c0001t0021g0178 a0001c0001t0033g0357 a0001c0001t0033g0358 a0001c0001t0033g0359 a0001c0001t0066g0082 a0001c0001t0081g0169 a0001c0001t0082g0179 a0001c0001t0085g0176 a0001c0001t0086g0180 a0001c0001t0088g0187 a0001c0001t0089g0174 a0002c0002t0004g0005 a0002c0002t0004g0006 a0002c0002t0004g0173 a0002c0002t0004g0183 a0002c0002t0004g0184 a0002c0002t0004g0185 a0002c0002t0004g0186 a0002c0002t0004g0190	36	370	0.0973	30	c.-20 others(51): Show c.-2032+5915_-2032+5916insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCHIP1_chr3_159268244_159902359	159828399	A A	ATATATAC others(23): Show ATATATACGTATATATATACGTATATATACG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp1 HG02630.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0056 a0001c0001t0001g0003 a0001c0001t0001g0056	2	100	0.0200	30	c.760 others(49): Show c.760-37758_760-37757insCGTATATATATACGTATATATACGTA TATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIMP_chr17_5203920_5239860	5227631	T T	TGAAGGCT others(23): Show TGAAGGCTTGAGGAGGCACTAAGTTCATTCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0310 a0001c0003t0005g0310	1	386	0.0026	30	c.22- others(45): Show c.22-4176_22-4175insGGAATGAACTTAGTGCCTCCTCAAGCCTTC	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCIMP_chr17_5203920_5239860	5229875	C C	CTCCTCTC others(23): Show CTCCTCTCCTCTCCACTCCTCTCCTCTCCGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0157 a0001c0002t0007g0157	1	386	0.0026	30	c.21+ others(45): Show c.21+4830_21+4859dupCCGGAGAGGAGAGGAGTGGAGAGGAGAGGA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01496.hp2 HG02895.hp2 others(8): Show HG00408.hp1 HG01496.hp2 HG02895.hp2 HG03130.hp2 HG03669.hp1 HG03710.hp2 HG04184.hp2 NA18939.hp1 NA18975.hp1 NA18978.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0047 a0001c0001t0083 a0001c0001t0100 a0001c0001t0106 a0001c0001t0157 a0001c0001t0171 a0001c0001t0199 a0001c0001t0264	a0001c0001t0002g0052 a0001c0001t0003g0015 a0001c0001t0005g0049 others(8): Show a0001c0001t0002g0052 a0001c0001t0003g0015 a0001c0001t0005g0049 a0001c0001t0047g0051 a0001c0001t0083g0050 a0001c0001t0100g0014 a0001c0001t0106g0053 a0001c0001t0157g0056 a0001c0001t0171g0043 a0001c0001t0199g0017 a0001c0001t0264g0016	11	372	0.0296	30	c.354 others(45): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12632083	C C	CATTTTAT others(23): Show CATTTTATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 NA18970.hp2 HG01515.hp1 HG01517.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0202 a0001c0001t0205 a0001c0001t0082 a0001c0001t0202 a0001c0001t0205	a0001c0001t0082g0035 a0001c0001t0202g0122 a0001c0001t0205g0103 a0001c0001t0082g0035 a0001c0001t0202g0122 a0001c0001t0205g0103	3	372	0.0081	30	c.131 others(49): Show c.1319+2898_1319+2927dupTTTTATTTTATTTTATTTTATTTTAT TTTA	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCMH1_chr1_41022202_41247306	41162886	A A	ATCTTGCT others(23): Show ATCTTGCTCACCCTCCACTTGTCTGCGTACC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	304	0.0033	30	c.14- others(45): Show c.14-1484_14-1455dupGGTACGCAGACAAGTGGAGGGTGAGCAAGA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	2/15			chr1	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0011 a0002c0016t0011	a0002c0016t0011g0024 a0002c0016t0011g0024	1	250	0.0040	30	c.-59 others(47): Show c.-59-5837_-59-5836insATATATATTTTTTTTTTTTTTTTTTTTT TT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38737832	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG04199.hp1 NA18942.hp1 others(6): Show HG03688.hp1 HG04199.hp1 NA18942.hp1 NA18972.hp2 NA18974.hp1 NA18987.hp1 NA19043.hp2 NA19065.hp2 NA19087.hp2	a0004 a0005 a0004 a0005	a0004c0005 a0004c0020 a0005c0009 others(2): Show a0004c0005 a0004c0020 a0005c0009 a0005c0011 a0005c0013	a0004c0005t0001 a0004c0020t0001 a0004c0020t0002 others(3): Show a0004c0005t0001 a0004c0020t0001 a0004c0020t0002 a0005c0009t0002 a0005c0011t0001 a0005c0013t0001	a0004c0005t0001g0069 a0004c0005t0001g0073 a0004c0005t0001g0175 others(6): Show a0004c0005t0001g0069 a0004c0005t0001g0073 a0004c0005t0001g0175 a0004c0020t0001g0167 a0004c0020t0002g0171 a0005c0009t0002g0059 a0005c0011t0001g0045 a0005c0013t0001g0076 a0005c0013t0001g0079	9	372	0.0242	30	c.228 others(49): Show c.2280+1682_2280+1683insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38746063	G G	GTGTATAT others(23): Show GTGTATATATATATGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp2 HG03834.hp1 others(6): Show HG02165.hp1 HG02165.hp2 HG03834.hp1 NA18964.hp2 NA18975.hp1 NA18979.hp1 NA18991.hp1 NA19010.hp2 NA19058.hp1	a0002 a0023 a0002 a0023	a0002c0001 a0002c0023 a0023c0044 a0002c0001 a0002c0023 a0023c0044	a0002c0001t0001 a0002c0001t0002 a0002c0023t0001 others(1): Show a0002c0001t0001 a0002c0001t0002 a0002c0023t0001 a0023c0044t0001	a0002c0001t0001g0203 a0002c0001t0001g0207 a0002c0001t0001g0209 others(6): Show a0002c0001t0001g0203 a0002c0001t0001g0207 a0002c0001t0001g0209 a0002c0001t0001g0224 a0002c0001t0001g0232 a0002c0001t0001g0347 a0002c0001t0002g0205 a0002c0023t0001g0200 a0023c0044t0001g0071	9	372	0.0242	30	c.186 others(49): Show c.1868-3535_1868-3534insTATATATATACACACACATATATATA TACA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38746100	T T	TATATATA others(23): Show TATATATATATATATATATATATATATCTAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03453.hp2 HG02622.hp1 HG03453.hp2	a0001 a0011 a0001 a0011	a0001c0003 a0011c0026 a0001c0003 a0011c0026	a0001c0003t0002 a0011c0026t0001 a0001c0003t0002 a0011c0026t0001	a0001c0003t0002g0131 a0011c0026t0001g0109 a0001c0003t0002g0131 a0011c0026t0001g0109	2	372	0.0054	30	c.186 others(49): Show c.1868-3572_1868-3571insCTAGATATATATATATATATATATAT ATAT	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877394	T T	TATATATG others(23): Show TATATATGGTGTATATACTATATATATGGTA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18964.hp2 NA18945.hp1 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0180 a0001c0002t0001g0166 a0001c0002t0001g0180	2	314	0.0064	30	c.339 others(49): Show c.3393+2526_3393+2555dupTACCATATATATAGTATATACACCAT ATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877456	T T	TATATATG others(23): Show TATATATGGTGTATATACTATATATATGGTA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0154	1	314	0.0032	30	c.339 others(49): Show c.3393+2464_3393+2493dupTACCATATATATAGTATATACACCAT ATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166050613	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02145.hp2 NA18747.hp1 HG02129.hp1 HG02145.hp2 NA18747.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0043 a0001c0004t0055 a0002c0002t0027 a0001c0001t0043 a0001c0004t0055 a0002c0002t0027	a0001c0001t0043g0283 a0001c0004t0055g0136 a0002c0002t0027g0151 a0001c0001t0043g0283 a0001c0004t0055g0136 a0002c0002t0027g0151	3	356	0.0084	30	c.964 others(47): Show c.964+1105_964+1106insTATATATATATATATATATATATATATA TA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	9/28			chr2	TogoVar
SCN1A_chr2_165980813_166133020	166050629	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02970.hp1 HG02622.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0338 a0001c0001t0024g0341 a0001c0001t0024g0338 a0001c0001t0024g0341	2	356	0.0056	30	c.964 others(47): Show c.964+1089_964+1090insCATATATATATATATATATATATATATA TA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	9/28			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291528	C C	CTTTCTTT others(23): Show CTTTCTTTTCTTTCTTTCTTTCTTTCTTCCT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	358	0.0028	30	c.-51 others(47): Show c.-51-4245_-51-4244insTTTCTTTTCTTTCTTTCTTTCTTTCTTC CT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291528	C C	CTTTTCTT others(23): Show CTTTTCTTTCTTTCTTTCTTTCTTTCTTCCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01255.hp1 HG01261.hp1 others(13): Show HG00423.hp1 HG01255.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01993.hp1 HG02040.hp2 HG03239.hp1 HG03669.hp2 HG03831.hp1 HG04115.hp1 NA18962.hp2 NA18984.hp1 NA18995.hp1 NA19011.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0002 a0001c0016t0002 a0001c0001t0002 a0001c0016t0002	a0001c0001t0002g0025 a0001c0001t0002g0113 a0001c0001t0002g0129 others(13): Show a0001c0001t0002g0025 a0001c0001t0002g0113 a0001c0001t0002g0129 a0001c0001t0002g0139 a0001c0001t0002g0161 a0001c0001t0002g0177 a0001c0001t0002g0182 a0001c0001t0002g0191 a0001c0001t0002g0204 a0001c0001t0002g0218 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0016t0002g0240	16	358	0.0447	30	c.-51 others(47): Show c.-51-4245_-51-4244insTTTTCTTTCTTTCTTTCTTTCTTTCTTC CT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCN3B_chr11_123624188_123659624	123625973	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0333 a0001c0001t0005g0333	1	450	0.0022	30	c.78 others(41): Show c.7825_*7826insGATCTCTCTCTCTCTCTCTCTCTCTCTCTC	SCN3B	ENSG00000166257.10	transcript	ENST00000299333.8	protein_coding		3214		chr11	TogoVar
SCN5A_chr3_38543062_38654687	38585662	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp2 HG01167.hp1 others(24): Show HG01074.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01256.hp1 HG02055.hp1 HG02055.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG03486.hp1 HG03688.hp2 NA18522.hp2 NA18906.hp1 NA18947.hp2 NA18967.hp2 NA18971.hp2 NA18984.hp1 NA18999.hp1 NA19030.hp1 NA19068.hp1 NA19068.hp2 NA19084.hp2 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0018	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0022 a0002c0005 a0002c0006 a0002c0009 a0002c0013 a0002c0015 a0002c0071 a0003c0028 a0005c0029 a0005c0030 a0018c0056	a0001c0001t0004 a0001c0002t0001 a0001c0003t0004 others(14): Show a0001c0001t0004 a0001c0002t0001 a0001c0003t0004 a0001c0004t0001 a0001c0022t0006 a0002c0005t0001 a0002c0006t0004 a0002c0009t0002 a0002c0009t0007 a0002c0013t0001 a0002c0015t0001 a0002c0071t0001 a0003c0028t0004 a0005c0029t0021 a0005c0029t0023 a0005c0030t0008 a0018c0056t0001	a0001c0001t0004g0151 a0001c0001t0004g0156 a0001c0002t0001g0269 others(24): Show a0001c0001t0004g0151 a0001c0001t0004g0156 a0001c0002t0001g0269 a0001c0003t0004g0104 a0001c0003t0004g0111 a0001c0003t0004g0112 a0001c0004t0001g0075 a0001c0004t0001g0115 a0001c0004t0001g0139 a0001c0022t0006g0306 a0002c0005t0001g0147 a0002c0005t0001g0331 a0002c0006t0004g0058 a0002c0006t0004g0238 a0002c0009t0002g0016 a0002c0009t0002g0017 a0002c0009t0007g0014 a0002c0009t0007g0036 a0002c0013t0001g0091 a0002c0015t0001g0125 a0002c0071t0001g0038 a0003c0028t0004g0044 a0005c0029t0021g0048 a0005c0029t0023g0049 a0005c0030t0008g0050 a0005c0030t0008g0219 a0018c0056t0001g0015	27	340	0.0794	30	c.278 others(45): Show c.2787+28_2787+29insACACACACACACACACACACACACACACAC	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	16/27			chr3	TogoVar
SCN7A_chr2_166398573_166499249	166413981	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18987.hp1 NA19065.hp2 HG03486.hp2 NA18987.hp1 NA19065.hp2	a0003 a0009 a0003 a0009	a0003c0003 a0009c0011 a0003c0003 a0009c0011	a0003c0003t0001 a0009c0011t0001 a0003c0003t0001 a0009c0011t0001	a0003c0003t0001g0139 a0009c0011t0001g0105 a0009c0011t0001g0118 a0003c0003t0001g0139 a0009c0011t0001g0105 a0009c0011t0001g0118	3	394	0.0076	30	c.341 others(47): Show c.3415-861_3415-860insTATATATATATATATATATATATATATA TA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166475080	G G	GTATATAT others(23): Show GTATATATATATATACGTATATATGTATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02818.hp2 NA18522.hp1 others(1): Show HG02257.hp2 HG02818.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0373 a0001c0001t0008g0374 a0001c0001t0008g0375 others(1): Show a0001c0001t0008g0373 a0001c0001t0008g0374 a0001c0001t0008g0375 a0001c0001t0008g0376	4	394	0.0102	30	c.235 others(45): Show c.235-737_235-736insTATATACATATATACGTATATATATATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	3/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166475080	G G	GTATATAT others(23): Show GTATATATATATATATATACGTATATATGTA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp1 HG03139.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0363 a0001c0001t0015g0364 a0001c0001t0015g0363 a0001c0001t0015g0364	2	394	0.0051	30	c.235 others(45): Show c.235-737_235-736insTACATATATACGTATATATATATATATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	3/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166475104	G G	GTATATAT others(23): Show GTATATATATATATACATATATACGTATATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03041.hp2 HG04115.hp2 HG01255.hp1 HG03041.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0302 a0001c0001t0001g0333 a0001c0001t0020g0369 a0001c0001t0001g0302 a0001c0001t0001g0333 a0001c0001t0020g0369	3	394	0.0076	30	c.235 others(45): Show c.235-761_235-760insTATATACGTATATATGTATATATATATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	3/25			chr2	TogoVar

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