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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
RORA_chr15_60483284_61234302	60826765	CCCTCTCT others(24): Show CCCTCTCTCTCTCTCTCTCTCTCTCTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01099.hp2 HG01891.hp1 others(1): Show HG00280.hp1 HG01099.hp2 HG01891.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010	a0001c0001t0002g0042 a0001c0001t0005g0073 a0001c0001t0009g0043 others(1): Show a0001c0001t0002g0042 a0001c0001t0005g0073 a0001c0001t0009g0043 a0001c0001t0010g0048	4	118	0.0339	-31	c.167 others(52): Show c.167-148110_167-148080delAAAAAAAGAGAGAGAGAGAGAGAG AGAGAGG	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORB_chr9_74492335_74698177	74689049	ATATGCCC others(24): Show ATATGCCCGTACTGTCCATGACTCAACTAATC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0198 a0001c0001t0063g0198	1	226	0.0044	-31	c.34 others(42): Show c.3433_*3463delATGCCCGTACTGTCCATGACTCAACTAATCT	RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	10/10	3433	INFO_REALIGN_3_PRIME	chr9	TogoVar
RPA2_chr1_27886524_27919575	27916996	CTTCCTCC others(24): Show CTTCCTCCTTCCTTCCTCCCTCCCTCCCTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	364	0.0028	-31	c.-25 others(42): Show c.-2584_-2554delAGGAGGGAGGGAGGGAGGAAGGAAGGAGGAA	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2422		chr1	TogoVar
RPH3AL_chr17_207389_357807	295108	GGCAGAGG others(24): Show GGCAGAGGGAATGCACATCAGTGTGGGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0103 a0001c0002t0029g0103	1	133	0.0075	-31	c.352 others(50): Show c.352-13285_352-13255delTCCCTCCCACACTGATGTGCATTCCC TCTGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	316768	AAGTCCCT others(24): Show AAGTCCCTGTGCCCCCACCTCCATTGACCTGT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG02572.hp2 others(3): Show HG01243.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02895.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0031 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0031 a0001c0003t0001 a0001c0003t0030	a0001c0001t0001g0119 a0001c0001t0003g0084 a0001c0001t0031g0067 others(3): Show a0001c0001t0001g0119 a0001c0001t0003g0084 a0001c0001t0031g0067 a0001c0003t0001g0068 a0001c0003t0001g0075 a0001c0003t0030g0122	6	133	0.0451	-31	c.351 others(48): Show c.351+2621_351+2651delACAGGTCAATGGAGGTGGGGGCACAGGG ACT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	317484	ACACCTCC others(24): Show ACACCTCCATTGACCTGTAGTCCCTGTGCCCC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0064 a0001c0003t0036g0064	1	133	0.0075	-31	c.351 others(48): Show c.351+1905_351+1935delGGGGCACAGGGACTACAGGTCAATGGAG GTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPL26_chr17_8372516_8388193	8373167	GTCTCCGT others(24): Show GTCTCCGTCTCCACGGTCTCCCTCTCCCTCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02258.hp1 HG02280.hp1 others(3): Show HG01243.hp1 HG02258.hp1 HG02280.hp1 HG02615.hp2 HG02630.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0008 a0001c0001t0005g0073 a0001c0001t0001g0008 a0001c0001t0005g0073	6	422	0.0142	-31	c.43 others(42): Show c.4366_*4396delGAGAGGGAGAGGGAGACCGTGGAGACGGAGA	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		4348		chr17	TogoVar
RPL8_chr8_144784769_144797390	144796635	GTCTTGTG others(24): Show GTCTTGTGACCCTGACACATCCCCCTCTCAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	-31	c.-45 others(42): Show c.-4537_-4507delTCTGAGAGGGGGATGTGTCAGGGTCACAAGA	RPL8	ENSG00000161016.18	transcript	ENST00000528957.6	protein_coding		4246		chr8	TogoVar
RPS24_chr10_78028863_78045697	78031542	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATAGATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	430	0.0023	-31	c.-23 others(42): Show c.-2359_-2329delAAAAAATATATATATATATATATATAGATAT	RPS24	ENSG00000138326.21	transcript	ENST00000372360.9	protein_coding		2320		chr10	TogoVar
RPS6KA5_chr14_90842861_91065641	91062559	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG03130.hp2 HG01106.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0050 a0001c0001t0005 a0001c0001t0050	a0001c0001t0005g0298 a0001c0001t0050g0299 a0001c0001t0005g0298 a0001c0001t0050g0299	2	306	0.0065	-31	c.-21 others(42): Show c.-2156_-2126delATATATATATATATATATATATATATATATA	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding		1919		chr14	TogoVar
RPS6KA5_chr14_90842861_91065641	91062580	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0272 a0001c0001t0095g0272	1	306	0.0033	-31	c.-21 others(42): Show c.-2177_-2147delTATATATATATATATATATATATATATATAT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding		1940		chr14	TogoVar
RPS6KB1_chr17_59888121_59955574	59909226	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01346.hp1 HG03654.hp1 others(1): Show HG01256.hp2 HG01346.hp1 HG03654.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0142 a0001c0001t0001g0174 a0001c0001t0001g0176 others(1): Show a0001c0001t0001g0142 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0004g0292	4	304	0.0132	-31	c.142 others(48): Show c.142-1307_142-1277delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RPS6KB1	ENSG00000108443.14	transcript	ENST00000225577.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80799714	CCCCTCCC others(24): Show CCCCTCCCTGGCGGCCGCCCTGCACACCCCTT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02922.hp1 others(1): Show HG01168.hp1 HG01169.hp1 HG02922.hp1 HG02922.hp2	a0001 a0001	a0001c0009 a0001c0012 a0001c0053 a0001c0009 a0001c0012 a0001c0053	a0001c0009t0006 a0001c0012t0003 a0001c0053t0007 a0001c0009t0006 a0001c0012t0003 a0001c0053t0007	a0001c0009t0006g0142 a0001c0012t0003g0121 a0001c0012t0003g0123 others(1): Show a0001c0009t0006g0142 a0001c0012t0003g0121 a0001c0012t0003g0123 a0001c0053t0007g0122	4	196	0.0204	-31	c.890 others(48): Show c.890+8213_890+8243delTGGCGGCCGCCCTGCACACCCCTTCCCT CCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RREB1_chr6_7102961_7256980	7103275	TATATTAT others(24): Show TATATTATATGTTAATTAACATATAATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0148 a0002c0004t0003g0148	1	292	0.0034	-31	c.-50 others(42): Show c.-5069_-5039delATATTATATGTTAATTAACATATAATATATA	RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding		4685		chr6	TogoVar
RSPH14_chr22_23054415_23146990	23130096	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	314	0.0032	-31	c.421 others(48): Show c.421+3899_421+3929delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RSPO2_chr8_107894316_108088620	108003293	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG02896.hp1 others(1): Show HG02258.hp1 HG02647.hp1 HG02896.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0129 a0001c0001t0002g0130 others(1): Show a0001c0001t0002g0059 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131	4	240	0.0167	-31	c.95- others(48): Show c.95-14080_95-14050delAAAAAAAAAAAAATATATATATATATAT ATA	RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5			chr8	TogoVar
RSPO2_chr8_107894316_108088620	108003295	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	240	0.0042	-31	c.95- others(48): Show c.95-14082_95-14052delAAAAAAAAAAAAAAATATATATATATAT ATA	RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5			chr8	TogoVar
RSPO4_chr20_953452_1007311	1004728	AGGTCATT others(24): Show AGGTCATTCCCTTCCCCACTACCCCCAGTACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0041 a0001c0001t0019g0041	1	376	0.0027	-31	c.-25 others(42): Show c.-2595_-2565delAGTACTGGGGGTAGTGGGGAAGGGAATGACC	RSPO4	ENSG00000101282.9	transcript	ENST00000217260.9	protein_coding		2418		chr20	TogoVar
RSRC1_chr3_158105089_158550730	158119619	TGTGTGTA others(24): Show TGTGTGTATAATATACACACATACATATGTGG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0250 a0001c0001t0006g0250	1	276	0.0036	-31	c.-2- others(46): Show c.-2-2481_-2-2451delGTGTATAATATACACACATACATATGTGGG T	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158399123	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0066 a0001c0001t0008g0066	1	276	0.0036	-31	c.583 others(50): Show c.583+44234_583+44264delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RUNDC3B_chr7_87623398_87837296	87703885	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01081.hp2 HG01123.hp1 others(37): Show HG00423.hp1 HG01081.hp2 HG01123.hp1 HG01192.hp1 HG01358.hp1 HG01496.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02129.hp1 HG02258.hp2 HG02559.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02895.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03654.hp1 HG04199.hp1 NA18522.hp2 NA18906.hp1 NA18940.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18994.hp2 NA19001.hp2 NA19005.hp2 NA19030.hp2 NA19056.hp1 NA19063.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 others(18): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0029 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0048 a0001c0001t0050 a0001c0001t0052 a0001c0001t0077 a0001c0001t0079 a0002c0002t0002 a0002c0002t0017	a0001c0001t0002g0027 a0001c0001t0002g0137 a0001c0001t0002g0162 others(37): Show a0001c0001t0002g0027 a0001c0001t0002g0137 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0176 a0001c0001t0002g0202 a0001c0001t0012g0152 a0001c0001t0013g0030 a0001c0001t0013g0149 a0001c0001t0013g0171 a0001c0001t0017g0170 a0001c0001t0017g0173 a0001c0001t0018g0172 a0001c0001t0018g0174 a0001c0001t0018g0175 a0001c0001t0020g0034 a0001c0001t0020g0036 a0001c0001t0021g0029 a0001c0001t0021g0032 a0001c0001t0022g0179 a0001c0001t0022g0180 a0001c0001t0029g0178 a0001c0001t0029g0181 a0001c0001t0038g0182 a0001c0001t0040g0161 a0001c0001t0041g0183 a0001c0001t0042g0148 a0001c0001t0044g0033 a0001c0001t0048g0028 a0001c0001t0050g0168 a0001c0001t0052g0038 a0001c0001t0077g0169 a0001c0001t0079g0177 a0002c0002t0002g0026 a0002c0002t0002g0031 a0002c0002t0017g0140	40	202	0.1980	-31	c.372 others(48): Show c.372+3356_372+3386delTTTGGTTTTTTTTTTTTTTTTTTTTTTT TTT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNX1T1_chr8_91949972_92108385	91952437	ATCTCCCC others(24): Show ATCTCCCCCACCCTTAAGAAGGTACTTTGTAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02486.hp1 others(11): Show HG01891.hp1 HG02109.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03225.hp2 HG03453.hp2 HG06807.hp1 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0001c0001t0032 a0001c0001t0039 a0001c0001t0050 a0001c0001t0057 a0001c0001t0065 a0001c0001t0087	a0001c0001t0002g0110 a0001c0001t0004g0095 a0001c0001t0004g0096 others(11): Show a0001c0001t0002g0110 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0006g0015 a0001c0001t0006g0052 a0001c0001t0012g0008 a0001c0001t0012g0010 a0001c0001t0015g0075 a0001c0001t0032g0009 a0001c0001t0039g0017 a0001c0001t0050g0018 a0001c0001t0057g0088 a0001c0001t0065g0104 a0001c0001t0087g0114	14	132	0.1061	-31	c.77 others(42): Show c.7774_*7804delCTACAAAGTACCTTCTTAAGGGTGGGGGAGA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding		2534		chr8	TogoVar
RYR3_chr15_33305967_33871102	33336443	AGAGAGAG others(24): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0127 a0001c0004t0001g0127	1	154	0.0065	-31	c.51+ others(48): Show c.51+25348_51+25378delGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAG	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103			chr15	TogoVar
SAMD10_chr20_63969116_63984642	63970910	CCCTCCCT others(24): Show CCCTCCCTTCTTCCTTCCTTTCCTTCCTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	342	0.0029	-31	c.45 others(42): Show c.4569_*4599delAAGAAGGAAGGAAAGGAAGGAAGAAGGGAGG	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		3205		chr20	TogoVar
SAMD10_chr20_63969116_63984642	63970914	CCCTTCTT others(24): Show CCCTTCTTCCTTCCTTTCCTTCCTTCTTCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0041 a0001c0002t0004g0041	1	342	0.0029	-31	c.45 others(42): Show c.4565_*4595delAAGGAAGAAGGAAGGAAAGGAAGGAAGAAGG	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		3201		chr20	TogoVar
SAMD11_chr1_918923_949574	934550	GCTCCGTT others(24): Show GCTCCGTTACAGGTGGGCGGGGGAGGCTGCTC	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01358.hp1 HG01255.hp2 HG01358.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0022 a0002c0003t0004g0022	2	434	0.0046	-31	c.843 others(48): Show c.843-1220_843-1190delTCCGTTACAGGTGGGCGGGGGAGGCTGC TCC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD15_chr14_77372379_77397163	77372932	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0013	1	314	0.0032	-31	c.-44 others(42): Show c.-4486_-4456delTATATATATATATATATATATTTTTTTTTTT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4446		chr14	TogoVar
SAMD4B_chr19_39337421_39390700	39373446	TGCAAGAG others(24): Show TGCAAGAGGGAGGCTAGTGAGGAGGGCAGCAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00621.hp1 others(71): Show HG00140.hp2 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG01070.hp2 HG01109.hp1 HG01123.hp2 HG01192.hp2 HG01433.hp1 HG01496.hp2 HG02056.hp2 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG04115.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18983.hp1 NA18993.hp1 NA18999.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19065.hp2 NA19074.hp1 NA19081.hp1 NA19082.hp1 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0023 a0001c0004t0002 a0001c0005t0007	a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0009 others(53): Show a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0086 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0122 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0171 a0001c0001t0003g0007 a0001c0001t0003g0020 a0001c0001t0003g0024 a0001c0001t0003g0110 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0112 a0001c0001t0004g0139 a0001c0001t0008g0025 a0001c0001t0008g0146 a0001c0001t0009g0099 a0001c0001t0010g0019 a0001c0001t0013g0009 a0001c0001t0014g0025 a0001c0001t0016g0123 a0001c0001t0018g0121 a0001c0001t0023g0104 a0001c0004t0002g0100 a0001c0004t0002g0101 a0001c0005t0007g0029	74	232	0.3190	-31	c.668 others(48): Show c.668-2170_668-2140delAAGAGGGAGGCTAGTGAGGAGGGCAGCA AGC	SAMD4B	ENSG00000179134.16	transcript	ENST00000610417.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SAMD7_chr3_169906572_169944175	169939926	GCTCTCTC others(24): Show GCTCTCTCTCTCTCTCTGGATTTCTCACTCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	-31	c.14 others(42): Show c.1421_*1451delCTCTCTCTCTCTCTCTGGATTTCTCACTCTT	SAMD7	ENSG00000187033.9	transcript	ENST00000335556.7	protein_coding		752		chr3	TogoVar
SARDH_chr9_133658560_133743352	133669094	CTCACCCT others(24): Show CTCACCCTCCCTCTCCCTCACCCTCCCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0002 a0004c0023t0002	a0004c0023t0002g0236 a0004c0023t0002g0236	1	262	0.0038	-31	c.249 others(50): Show c.2495+1459_2495+1489delAGAGAGGGAGGGTGAGGGAGAGGGAG GGTGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669108	CCCTCACC others(24): Show CCCTCACCCTCCCTCTCTCTCTCCTTCCCTCT	C C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0003 a0003	a0003c0028 a0003c0028	a0003c0028t0001 a0003c0028t0001	a0003c0028t0001g0085 a0003c0028t0001g0085	1	262	0.0038	-31	c.249 others(50): Show c.2495+1445_2495+1475delAGAGGGAAGGAGAGAGAGAGGGAGGG TGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669172	CCCTCACC others(24): Show CCCTCACCTTCCCTCTCCCTCACCCTCCATCT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA19005.hp1 NA19070.hp1 NA18747.hp2 NA19005.hp1 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0012 a0001c0001 a0001c0006 a0002c0012	a0001c0001t0002 a0001c0006t0002 a0002c0012t0001 a0001c0001t0002 a0001c0006t0002 a0002c0012t0001	a0001c0001t0002g0211 a0001c0006t0002g0217 a0002c0012t0001g0111 a0001c0001t0002g0211 a0001c0006t0002g0217 a0002c0012t0001g0111	3	262	0.0115	-31	c.249 others(50): Show c.2495+1381_2495+1411delAGATGGAGGGTGAGGGAGAGGGAAGG TGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SBK1_chr16_28287525_28328849	28292384	CGGGCGCG others(24): Show CGGGCGCGCGGCGGGTGAGCGCGCTTGCGCGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0113 a0001c0001t0016g0113	1	384	0.0026	-31	c.-92 others(40): Show c.-923_-893delGGGCGCGCGGCGGGTGAGCGCGCTTGCGCGA	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding		140		chr16	TogoVar
SCAF11_chr12_45914131_45995574	45949181	AACTAGAT others(24): Show AACTAGATCTTAAAAGAAAGCTCTTAAGATAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	344	0.0029	-31	c.298 others(46): Show c.298-675_298-645delCTATCTTAAGAGCTTTCTTTTAAGATCTAG T	SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	4/14			chr12	TogoVar
SCAMP1_chr5_78355617_78485739	78392015	GAGGGAGA others(24): Show GAGGGAGAGAGAGGGAGAGGGAGACCGTGGAA	G G	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	-31	c.135 others(48): Show c.135+3104_135+3134delGGAGAGAGAGGGAGAGGGAGACCGTGGA AAG	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78433778	TAGGGGTG others(24): Show TAGGGGTGGAGGATATTCTTGTTCTGGTTCAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	332	0.0030	-31	c.632 others(50): Show c.632+11819_632+11849delAGGGGTGGAGGATATTCTTGTTCTGG TTCAG	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8			chr5	TogoVar
SCARB1_chr12_124771856_124868864	124837563	GAAAAGAA others(24): Show GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03540.hp2 HG01069.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0003 a0001c0001t0006 a0001c0002t0003	a0001c0001t0006g0035 a0001c0002t0003g0075 a0001c0001t0006g0035 a0001c0002t0003g0075	2	356	0.0056	-31	c.127 others(50): Show c.127-19887_127-19857delTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCFD1_chr14_30617319_30740850	30629533	TGTATTTG others(24): Show TGTATTTGATAGACTAAGTCTATCAAATACTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	328	0.0031	-31	c.133 others(46): Show c.133-943_133-913delGTATTTGATAGACTAAGTCTATCAAATACT C	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	2/24			chr14	TogoVar
SCG3_chr15_51676503_51726026	51709675	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	402	0.0025	-31	c.120 others(50): Show c.1208-3656_1208-3626delATATATATATATATATATATATATAT TTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCIN_chr7_12565720_12665182	12588807	GTGGGGGG others(24): Show GTGGGGGGGGGGGGGTGCGGGGGCGGGTGGGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03471.hp1 HG03579.hp2 others(1): Show HG02109.hp1 HG03471.hp1 HG03579.hp2 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0121 a0002c0003t0190 a0002c0003t0007 a0002c0003t0121 a0002c0003t0190	a0002c0003t0007g0341 a0002c0003t0007g0343 a0002c0003t0121g0340 others(1): Show a0002c0003t0007g0341 a0002c0003t0007g0343 a0002c0003t0121g0340 a0002c0003t0190g0342	4	372	0.0108	-31	c.516 others(48): Show c.516+7587_516+7617delTGGGGGGGGGGGGGTGCGGGGGCGGGTG GGA	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	3/15			chr7	TogoVar
SCLY_chr2_238056001_238104413	238096600	GTGCAGCC others(24): Show GTGCAGCCAAGGGAGAAAGGAAGCGTTTTCTT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0072 a0002c0002t0072	a0002c0002t0072g0187 a0002c0002t0072g0187	1	392	0.0026	-31	c.110 others(48): Show c.1109-200_1109-170delTGCAGCCAAGGGAGAAAGGAAGCGTTTT CTT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	10/11			chr2	TogoVar
SCML4_chr6_107697154_107829313	107778211	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0002 a0001c0002t0008g0002	1	250	0.0040	-31	c.-59 others(48): Show c.-59-5856_-59-5826delATATATATATATATATATATTTTTTTTT TTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN11A_chr3_38840764_39056944	38877021	GTATATAT others(24): Show GTATATATATGGTATATATATGGTGTATATAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp2 others(98): Show HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00597.hp1 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01081.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01361.hp1 HG01517.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02735.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03704.hp2 HG03834.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18959.hp1 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18975.hp1 NA18982.hp2 NA18989.hp2 NA18991.hp1 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19070.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0010	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0009 a0002c0003 a0002c0014 a0003c0008 a0008c0019 a0010c0023	a0001c0001t0002 a0001c0001t0013 a0001c0001t0018 others(10): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0002t0004 a0001c0005t0001 a0001c0006t0006 a0001c0009t0007 a0002c0003t0001 a0002c0014t0001 a0003c0008t0001 a0008c0019t0002 a0010c0023t0004	a0001c0001t0002g0017 a0001c0001t0002g0054 a0001c0001t0002g0055 others(98): Show a0001c0001t0002g0017 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0013g0001 a0001c0001t0018g0096 a0001c0001t0019g0080 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0043 a0001c0002t0004g0044 a0001c0002t0004g0046 a0001c0002t0004g0048 a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0005t0001g0240 a0001c0005t0001g0241 a0001c0005t0001g0242 a0001c0005t0001g0243 a0001c0005t0001g0244 a0001c0005t0001g0245 a0001c0005t0001g0246 a0001c0005t0001g0248 a0001c0005t0001g0249 a0001c0005t0001g0250 a0001c0005t0001g0251 a0001c0005t0001g0252 a0001c0005t0001g0253 a0001c0005t0001g0254 a0001c0005t0001g0255 a0001c0005t0001g0256 a0001c0005t0001g0257 a0001c0006t0006g0293 a0001c0006t0006g0294 a0001c0009t0007g0200 a0001c0009t0007g0201 a0001c0009t0007g0202 a0001c0009t0007g0203 a0002c0003t0001g0008 a0002c0003t0001g0013 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0023 a0002c0003t0001g0037 a0002c0014t0001g0226 a0002c0014t0001g0236 a0003c0008t0001g0134 a0003c0008t0001g0135 a0008c0019t0002g0101 a0010c0023t0004g0039	101	314	0.3217	-31	c.339 others(50): Show c.3393+2898_3393+2928delGTATATACACCATATATATACCATAT ATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877320	CTATATAT others(24): Show CTATATATGGTATATATATGGTGTATATACTA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG01517.hp1 others(11): Show HG00408.hp2 HG00597.hp1 HG01517.hp1 HG01978.hp2 HG02083.hp2 HG02109.hp2 HG02451.hp2 HG02622.hp1 HG02965.hp1 HG03704.hp2 HG03834.hp2 NA18612.hp1 NA18950.hp2 NA18999.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0020 a0008c0019 a0001c0001 a0001c0020 a0008c0019	a0001c0001t0002 a0001c0020t0002 a0008c0019t0002 a0001c0001t0002 a0001c0020t0002 a0008c0019t0002	a0001c0001t0002g0062 a0001c0001t0002g0076 a0001c0001t0002g0083 others(11): Show a0001c0001t0002g0062 a0001c0001t0002g0076 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0128 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0020t0002g0094 a0008c0019t0002g0101	14	314	0.0446	-31	c.339 others(50): Show c.3393+2599_3393+2629delTAGTATATACACCATATATATACCAT ATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938534	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp2 HG02895.hp2 others(6): Show HG02572.hp1 HG02622.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03225.hp2 HG03516.hp2 HG03540.hp2 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0240 a0001c0005t0001g0244 a0001c0005t0001g0245 others(6): Show a0001c0005t0001g0240 a0001c0005t0001g0244 a0001c0005t0001g0245 a0001c0005t0001g0250 a0001c0005t0001g0253 a0001c0005t0001g0254 a0001c0005t0001g0255 a0001c0005t0001g0256 a0001c0005t0001g0257	9	314	0.0287	-31	c.488 others(48): Show c.488+6846_488+6876delAAAAAAAAAAAAAAATATATATATATAT ATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938536	ATATATAT others(24): Show ATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03195.hp2 HG03486.hp1 others(2): Show HG01891.hp1 HG03195.hp2 HG03486.hp1 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0001 a0001c0007t0005 a0001c0007t0010 a0001c0005t0001 a0001c0007t0005 a0001c0007t0010	a0001c0005t0001g0242 a0001c0007t0005g0300 a0001c0007t0005g0301 others(2): Show a0001c0005t0001g0242 a0001c0007t0005g0300 a0001c0007t0005g0301 a0001c0007t0005g0302 a0001c0007t0010g0314	5	314	0.0159	-31	c.488 others(48): Show c.488+6844_488+6874delAAAAAAAAAAAAAAAAATATATATATAT ATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938538	ATATATAT others(24): Show ATATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0303 a0001c0007t0005g0303	1	314	0.0032	-31	c.488 others(48): Show c.488+6842_488+6872delAAAAAAAAAAAAAAAAAAATATATATAT ATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCNN1D_chr1_1275436_1297025	1289828	TGTCTCTG others(24): Show TGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19004.hp2 NA19072.hp2 NA18969.hp2 NA19004.hp2 NA19072.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0005 a0002c0002t0001 a0002c0003t0005	a0002c0002t0001g0035 a0002c0002t0001g0059 a0002c0003t0005g0002 a0002c0002t0001g0035 a0002c0002t0001g0059 a0002c0003t0005g0002	3	290	0.0103	-31	c.166 others(48): Show c.1663-434_1663-404delCCCGTCCCGTGTCCGTCCCCCGAGTCTC TGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCT_chr11_621309_632181	627866	GTTCTCAG others(24): Show GTTCTCAGACTCTTCCGTCCTCCAAAAATCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	411	0.0024	-31	c.-75 others(40): Show c.-754_-724delTGGATTTTTGGAGGACGGAAGAGTCTGAGAA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		686		chr11	TogoVar
SCT_chr11_621309_632181	627958	TGTTCACA others(24): Show TGTTCACAGACGCTCCCGTCCTCCCAAAATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	411	0.0024	-31	c.-84 others(40): Show c.-846_-816delGGATTTTGGGAGGACGGGAGCGTCTGTGAAC	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		778		chr11	TogoVar

Search by Variant

Search

Search Results (Total: 2615 hits)