Joint Open Genome and Omics Platform (JoGo)

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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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
SATB2_chr2_199264505_199462939	199321507	C C	CACGTATA others(31): Show CACGTATATACACACATATACATATATACATATATGTGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	254	0.0039	38	c.154 others(57): Show c.1542+2295_1542+2296insACACATATATGTATATATGTATATGT GTGTATATACGT	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	9/10			chr2	TogoVar
SATB2_chr2_199264505_199462939	199355342	G G	GTATCTAT others(31): Show GTATCTATATATATATATATCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0010 a0001c0001t0024g0010	1	254	0.0039	38	c.701 others(55): Show c.701-6170_701-6169insTATATATATATATATATAGATATATATA TATATAGATA	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	6/10			chr2	TogoVar
SAXO1_chr9_18922650_19038209	18938828	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0174 a0003c0003t0009g0174	1	364	0.0028	38	c.421 others(55): Show c.421+2808_421+2809insTACACACACACACACACACACACATACA CACACACACA	SAXO1	ENSG00000155875.15	transcript	ENST00000380534.9	protein_coding	3/3			chr9	TogoVar
SBF2_chr11_9773668_10299219	9989055	T T	TATATATA others(31): Show TATATATATATATACACACACACACATATGCATACATAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02895.hp1 HG02897.hp1 HG02615.hp1 HG02895.hp1 HG02897.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0010 a0001c0003 a0004c0010	a0001c0003t0002 a0004c0010t0001 a0001c0003t0002 a0004c0010t0001	a0001c0003t0002g0184 a0004c0010t0001g0169 a0004c0010t0001g0183 a0001c0003t0002g0184 a0004c0010t0001g0169 a0004c0010t0001g0183	3	224	0.0134	38	c.139 others(55): Show c.1395+441_1395+442insGTATGTATGCATATGTGTGTGTGTGTAT ATATATATAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	13/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9989055	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0162 a0001c0003t0005g0162	1	224	0.0045	38	c.139 others(55): Show c.1395+441_1395+442insGTATATATATATATATATATATATATAT ATATATATAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	13/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9994577	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0187 a0001c0001t0005g0187	1	224	0.0045	38	c.976 others(53): Show c.976-580_976-579insATATATATATATATATATATATATATATAT ATATATAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	9/39			chr11	TogoVar
SBK2_chr19_55523611_55542133	55536340	A A	AAGGGAGG others(31): Show AAGGGAGGAGGGGACTGGGGGTCTGGACTCCTGGGTCTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03195.hp2 HG03486.hp2 HG01361.hp1 HG03195.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0004t0004 a0001c0001t0001 a0001c0001t0003 a0001c0004t0004	a0001c0001t0001g0299 a0001c0001t0003g0211 a0001c0004t0004g0136 a0001c0001t0001g0299 a0001c0001t0003g0211 a0001c0004t0004g0136	3	434	0.0069	38	c.-2- others(49): Show c.-2-82_-2-45dupCAGACCCAGGAGTCCAGACCCCCAGTCCCCTCCT CCCT	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	1/3			chr19	TogoVar
SBK2_chr19_55523611_55542133	55537456	G G	GTCCAGGC others(31): Show GTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	434	0.0023	38	c.-40 others(47): Show c.-406_-405insACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTG GA	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		324		chr19	TogoVar
SBK2_chr19_55523611_55542133	55538121	A A	AGGAGGGG others(31): Show AGGAGGGGGTTGAGGACCTGGACTCCTGGGCCTGAGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02809.hp1 others(4): Show HG02109.hp1 HG02451.hp1 HG02809.hp1 HG02896.hp1 HG02970.hp1 HG03098.hp2 HG03209.hp1	a0000 a0001 a0000 a0001	a0000c0003 a0001c0001 a0000c0003 a0001c0001	a0000c0003t0014 a0000c0003t0041 a0001c0001t0004 others(2): Show a0000c0003t0014 a0000c0003t0041 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014	a0000c0003t0014g0203 a0000c0003t0041g0202 a0001c0001t0004g0200 others(3): Show a0000c0003t0014g0203 a0000c0003t0041g0202 a0001c0001t0004g0200 a0001c0001t0005g0201 a0001c0001t0014g0045 a0001c0001t0014g0132	7	434	0.0161	38	c.-10 others(49): Show c.-1071_-1070insACCCTCAGGCCCAGGAGTCCAGGTCCTCAACCCC CTCC	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		989		chr19	TogoVar
SBK3_chr19_55535656_55550543	55536340	A A	AAGGGAGG others(31): Show AAGGGAGGAGGGGACTGGGGGTCTGGACTCCTGGGTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG03486.hp1 HG01361.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0005 a0001c0013t0001g0039 a0001c0001t0001g0005 a0001c0013t0001g0039	2	438	0.0046	38	c.44 others(49): Show c.4468_*4505dupCAGACCCAGGAGTCCAGACCCCCAGTCCCCTCCT CCCT	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		4315		chr19	TogoVar
SBK3_chr19_55535656_55550543	55538121	A A	AGGAGGGG others(31): Show AGGAGGGGGTTGAGGACCTGGACTCCTGGGCCTGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02451.hp2 HG02809.hp1 others(4): Show HG02109.hp1 HG02451.hp2 HG02809.hp1 HG02896.hp2 HG02970.hp1 HG03098.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0046 a0001c0001t0001g0010 a0001c0001t0001g0046	7	438	0.0160	38	c.27 others(49): Show c.2724_*2725insACCCTCAGGCCCAGGAGTCCAGGTCCTCAACCCC CTCC	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		2534		chr19	TogoVar
SBNO1_chr12_123284109_123369847	123297400	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0049 a0001c0005t0049	a0001c0005t0049g0107 a0001c0005t0049g0107	1	260	0.0039	38	c.403 others(55): Show c.4039+577_4039+578insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	31/31			chr12	TogoVar
SBNO2_chr19_1102638_1179268	1134138	C C	CCACAGCT others(31): Show CCACAGCTCACGGGTGGACTCACAGCTCACGGGTGGACT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01081.hp1 HG01346.hp2 others(3): Show HG00733.hp2 HG01081.hp1 HG01346.hp2 HG01496.hp1 NA19005.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0028 a0001c0001 a0001c0002 a0001c0028	a0001c0001t0001 a0001c0002t0001 a0001c0028t0001 a0001c0001t0001 a0001c0002t0001 a0001c0028t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0190 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0002t0001g0079 a0001c0028t0001g0192	6	203	0.0296	38	c.280 others(55): Show c.280-6411_280-6374dupAGTCCACCCGTGAGCTGTGAGTCCACCC GTGAGCTGTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1150481	T T	TGCCCCCA others(31): Show TGCCCCCACGGTCACGGGGGAGACCCTGCCGTCACGGAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01891.hp2 HG02451.hp1 others(7): Show HG01106.hp2 HG01891.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02809.hp1 HG02922.hp2 HG03130.hp2 HG03579.hp2 NA19030.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0004 a0001c0007 a0001c0010 others(3): Show a0001c0004 a0001c0007 a0001c0010 a0001c0011 a0003c0012 a0009c0031	a0001c0004t0001 a0001c0004t0011 a0001c0007t0001 others(4): Show a0001c0004t0001 a0001c0004t0011 a0001c0007t0001 a0001c0010t0001 a0001c0011t0001 a0003c0012t0007 a0009c0031t0001	a0001c0004t0001g0001 a0001c0004t0001g0036 a0001c0004t0001g0038 others(7): Show a0001c0004t0001g0001 a0001c0004t0001g0036 a0001c0004t0001g0038 a0001c0004t0001g0159 a0001c0004t0011g0194 a0001c0007t0001g0177 a0001c0010t0001g0022 a0001c0011t0001g0037 a0003c0012t0007g0195 a0009c0031t0001g0196	10	203	0.0493	38	c.94- others(53): Show c.94-1077_94-1040dupGTCCGTGACGGCAGGGTCTCCCCCGTGACC GTGGGGGC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	2/31			chr19	TogoVar
SBSN_chr19_35518367_35533311	35520356	C C	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0033 a0001c0003t0001g0033	1	450	0.0022	38	c.31 others(49): Show c.3153_*3154insTATATATATATATATATATATATATATATATATA TATA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3010		chr19	TogoVar
SBSN_chr19_35518367_35533311	35520356	C C	CTCTATAT others(31): Show CTCTATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0031 a0002c0001t0001g0031	1	450	0.0022	38	c.31 others(49): Show c.3153_*3154insTATATATATATATATATATATATATATATATATA TAGA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3010		chr19	TogoVar
SBSN_chr19_35518367_35533311	35520373	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 NA19043.hp2 others(1): Show HG01168.hp1 HG01169.hp1 NA19043.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0001 a0001c0003t0001 a0002c0001t0001	a0001c0003t0001g0091 a0002c0001t0001g0001 a0001c0003t0001g0091 a0002c0001t0001g0001	4	450	0.0089	38	c.31 others(49): Show c.3136_*3137insGTATATATATATATATATATATATATATATATAT ATAT	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		2993		chr19	TogoVar
SBSPON_chr8_73059543_73098172	73067589	C C	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0022 a0004c0006t0022	a0004c0006t0022g0083 a0004c0006t0022g0083	1	414	0.0024	38	c.678 others(53): Show c.678-132_678-131insTATATATATATATATATATATATATATATA TATATATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAF11_chr12_45914131_45995574	45972927	T T	TATATAGA others(31): Show TATATAGATATATAGATATATATATAGATATATATATAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02922.hp1 HG03225.hp2 HG02630.hp1 HG02922.hp1 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0129 a0001c0004t0003g0270 a0001c0004t0003g0271 a0001c0004t0003g0129 a0001c0004t0003g0270 a0001c0004t0003g0271	3	344	0.0087	38	c.-21 others(55): Show c.-21-8740_-21-8739insCTATATATATATCTATATATATATCTAT ATATCTATAT	SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	1/14			chr12	TogoVar
SCAF11_chr12_45914131_45995574	45973029	G G	GATATAGA others(31): Show GATATAGATATATAGATATATATATAGATATATAGATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0284 a0001c0004t0003g0284	1	344	0.0029	38	c.-21 others(55): Show c.-21-8842_-21-8841insATATCTATATATCTATATATATATCTAT ATATCTATAT	SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	1/14			chr12	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(31): Show TACACACACACACACATATACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	382	0.0026	38	c.15 others(49): Show c.1585_*1586insACACACACACACACATATACACACACACACACAC ACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(31): Show TACACACACACACATATACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG03017.hp1 HG04115.hp1 HG01975.hp1 HG03017.hp1 HG04115.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0002 a0003c0004t0002 a0001c0002t0002 a0003c0004t0002	a0001c0002t0002g0009 a0001c0002t0002g0059 a0003c0004t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0059 a0003c0004t0002g0006	3	382	0.0079	38	c.15 others(49): Show c.1585_*1586insACACACACACACATATACACACACACACACACAC ACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAMP1_chr5_78355617_78485739	78439337	T T	TTGCAGTG others(31): Show TTGCAGTGGCTGGTACTGGTTGTTTTTTTCCATGTTTAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02723.hp1 HG02818.hp1 others(2): Show HG02109.hp2 HG02723.hp1 HG02818.hp1 HG02895.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0004 a0001c0001t0010g0005 a0001c0001t0010g0061 others(2): Show a0001c0001t0010g0004 a0001c0001t0010g0005 a0001c0001t0010g0061 a0001c0001t0010g0062 a0001c0001t0010g0063	5	332	0.0151	38	c.633 others(57): Show c.633-10592_633-10555dupAGTGGCTGGTACTGGTTGTTTTTTTC CATGTTTAGTGC	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(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 NA18952.hp2 HG01358.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0194 a0001c0001t0001g0102 a0001c0001t0001g0194	2	370	0.0054	38	c.-47 others(49): Show c.-4728_-4727insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCAPER_chr15_76342904_76910340	76428866	C C	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0292 a0002c0002t0002g0292	1	312	0.0032	38	c.331 others(57): Show c.3311+5211_3311+5212insTATATATATATATATATATATATATA TATATATATATA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652371	C C	CACACACA others(31): Show CACACACACACACACACACACACACACACATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0288 a0002c0002t0002g0288	1	312	0.0032	38	c.264 others(59): Show c.2645+13281_2645+13282insATATATATATGTGTGTGTGTGTGT GTGTGTGTGTGTGT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCARF1_chr17_1628858_1650732	1643238	T T	TCCCCGCC others(31): Show TCCCCGCCCACCGGTGTCCGCCCCGCCCACCGGTGTCCG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01952.hp1 HG02258.hp1 HG01167.hp1 HG01952.hp1 HG02258.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0002 a0003c0003t0002 a0001c0001t0001 a0002c0002t0002 a0003c0003t0002	a0001c0001t0001g0185 a0002c0002t0002g0187 a0003c0003t0002g0186 a0001c0001t0001g0185 a0002c0002t0002g0187 a0003c0003t0002g0186	3	401	0.0075	38	c.791 others(53): Show c.791+203_791+204insCGGACACCGGTGGGCGGGGCGGACACCGGT GGGCGGGG	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	4/10			chr17	TogoVar
SCART1_chr10_133448945_133474760	133460471	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0008 a0004c0019t0008	a0004c0019t0008g0134 a0004c0019t0008g0134	1	434	0.0023	38	c.196 others(55): Show c.1969+319_1969+320insATATATATATATATATATATATATATAT ATATATATAT	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(31): Show ATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0003 a0004c0021t0003	a0004c0021t0003g0099 a0004c0021t0003g0099	1	434	0.0023	38	c.196 others(55): Show c.1969+327_1969+328insATATATATATATATATATATATATATAT ATATATATTT	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(31): Show ATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0003 a0003c0024t0003	a0003c0024t0003g0102 a0003c0024t0003g0102	1	434	0.0023	38	c.196 others(55): Show c.1969+327_1969+328insATATATATATATATATATATATATATAT ATATATTTTT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCD5_chr4_82624539_82803796	82626118	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG02109.hp2 HG00642.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0157 a0001c0001t0001g0129 a0001c0001t0001g0157	2	210	0.0095	38	c.52 others(49): Show c.5208_*5209insTTCTTTCTTTCTCTCTCTCTTTCTTTCTTTCTTT CTTT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding		3420		chr4	TogoVar
SCFD2_chr4_52867982_53371061	53140392	A A	AAAATATA others(31): Show AAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01106.hp1 HG02129.hp1 others(3): Show HG00558.hp2 HG01106.hp1 HG02129.hp1 HG02717.hp2 HG03017.hp1 HG03225.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0007 a0003c0015 others(1): Show a0001c0001 a0001c0007 a0003c0015 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0007t0001 a0003c0015t0003 a0004c0012t0001	a0001c0001t0001g0052 a0001c0001t0002g0040 a0001c0001t0012g0116 others(3): Show a0001c0001t0001g0052 a0001c0001t0002g0040 a0001c0001t0012g0116 a0001c0007t0001g0035 a0003c0015t0003g0147 a0004c0012t0001g0004	6	162	0.0370	38	c.156 others(57): Show c.1561+4940_1561+4941insATATATATATATATATATATATATAT ATATATATATTT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51704764	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20300.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0243 a0001c0001t0001g0245	2	402	0.0050	38	c.120 others(57): Show c.1207+3551_1207+3552insTATATATATATATATATATATATATA TATATATATATA	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(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0395 a0001c0001t0001g0395	1	415	0.0024	38	c.226 others(57): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATAT	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(31): Show ATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG06807.hp1 homoSapiens_chm13v2.hp1 HG01934.hp1 HG06807.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0002t0003g0382 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0002t0003g0382	3	415	0.0072	38	c.226 others(57): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATGTAT	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(31): Show ATATATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	415	0.0024	38	c.226 others(57): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATGTATGTAT	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(31): Show ATATATATATATATATGTATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	415	0.0024	38	c.226 others(57): Show c.226+13394_226+13395insATATATATATATGTATATATATATAT ATATATATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C1_chr11_188078_199575	196045	A A	AGGACATG others(31): Show AGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00741.hp2 HG01070.hp1 others(18): Show HG00423.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG02451.hp1 HG02602.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18951.hp2 NA18952.hp1 NA18964.hp1 NA18967.hp2 NA18977.hp1 NA18981.hp1 NA18983.hp1 NA18999.hp1 NA19009.hp1 NA19055.hp1 NA20805.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0006 a0002c0001t0002g0001 a0002c0001t0002g0006	21	354	0.0593	38	c.15 others(49): Show c.1595_*1596insGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGG	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1471		chr11	TogoVar
SCGB1C1_chr11_188078_199575	196351	G G	GGGGACCT others(31): Show GGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	354	0.0028	38	c.19 others(49): Show c.1901_*1902insGGGACCTGGTGAGGAGGACATGGGGGGGACCTTG GTGA	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1777		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277869	T T	TCCCCCCC others(31): Show TCCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	390	0.0026	38	c.48 others(49): Show c.4874_*4875insCCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCC CCTC	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4710		chr11	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(31): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03492.hp1 NA19080.hp1 others(1): Show HG03195.hp2 HG03492.hp1 NA19080.hp1 NA20905.hp2	a0001 a0002 a0018 a0001 a0002 a0018	a0001c0001 a0002c0002 a0018c0022 a0001c0001 a0002c0002 a0018c0022	a0001c0001t0135 a0002c0002t0044 a0002c0002t0234 others(1): Show a0001c0001t0135 a0002c0002t0044 a0002c0002t0234 a0018c0022t0033	a0001c0001t0135g0031 a0002c0002t0044g0329 a0002c0002t0234g0330 others(1): Show a0001c0001t0135g0031 a0002c0002t0044g0329 a0002c0002t0234g0330 a0018c0022t0033g0282	4	372	0.0108	38	c.354 others(53): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCML2_chrX_18234313_18359688	18315303	G G	GCAGGGAG others(31): Show GCAGGGAGTGGCATCCCTAAATTTGATCACACAGGACCT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0147 a0001c0002t0001g0147	1	247	0.0041	38	c.486 others(55): Show c.486+4991_486+5028dupAGGTCCTGTGTGATCAAATTTAGGGATG CCACTCCCTG	SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	6/14			chrX	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	250	0.0040	38	c.-59 others(55): Show c.-59-5837_-59-5836insATATATATATATATATATATTTTTTTTT TTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38737830	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0019 a0001c0027t0001g0019	1	372	0.0027	38	c.228 others(57): Show c.2280+1684_2280+1685insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38737832	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18953.hp2 HG02027.hp1 NA18953.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0170 a0004c0005t0001g0174 a0004c0005t0001g0170 a0004c0005t0001g0174	2	372	0.0054	38	c.228 others(57): Show c.2280+1682_2280+1683insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38746063	G G	GTGTATAT others(31): Show GTGTATATATATATGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02809.hp2 HG02129.hp2 HG02809.hp2	a0002 a0002	a0002c0001 a0002c0039 a0002c0001 a0002c0039	a0002c0001t0001 a0002c0039t0001 a0002c0001t0001 a0002c0039t0001	a0002c0001t0001g0066 a0002c0039t0001g0143 a0002c0001t0001g0066 a0002c0039t0001g0143	2	372	0.0054	38	c.186 others(57): Show c.1868-3535_1868-3534insTATATATATATATATATACACACACA TATATATATACA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38746100	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATCTAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03098.hp2 HG03540.hp1 HG02615.hp1 HG03098.hp2 HG03540.hp1	a0001 a0029 a0001 a0029	a0001c0003 a0029c0047 a0001c0003 a0029c0047	a0001c0003t0002 a0029c0047t0001 a0001c0003t0002 a0029c0047t0001	a0001c0003t0002g0096 a0001c0003t0002g0100 a0029c0047t0001g0107 a0001c0003t0002g0096 a0001c0003t0002g0100 a0029c0047t0001g0107	3	372	0.0081	38	c.186 others(57): Show c.1868-3572_1868-3571insCTAGATATATATATATATATATATAT ATATATATATAT	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN2B_chr11_118157806_118181639	118165380	G G	GCCTCTTG others(31): Show GCCTCTTGCTCCTTCTCTCAGGCCTAATCAATTTCCATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0224 a0001c0001t0054g0224	1	450	0.0022	38	c.14 others(49): Show c.1469_*1506dupAATGGAAATTGATTAGGCCTGAGAGAAGGAGCAA GAGG	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding	4/4	1506		chr11	TogoVar
SCN7A_chr2_166398573_166499249	166414103	T T	TTATATAT others(31): Show TTATATATAAATATATATAATATATTATATATATGTAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02809.hp1 HG01123.hp1 HG02809.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0174 a0003c0003t0001g0134 a0002c0002t0001g0174 a0003c0003t0001g0134	2	394	0.0051	38	c.341 others(56): Show c.3415-1020_3415-983dupTTTACATATATATAATATATTATATAT ATTTATATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23343609	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0291 a0001c0008t0001g0291	1	306	0.0033	38	c.-8- others(53): Show c.-8-4981_-8-4944dupGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar

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