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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⚠️ 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
SCAF1_chr19_49637209_49663642	49659996	C C	CATATACA others(93): Show CATATACACACACACACACACACCCCTGCTGTAACTGAACCATAGGCCTA GGGCTGCTGGGAGTTGTAGTTTTACACACACACACATATACACACACACA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG02258.hp1 HG03209.hp1 others(1): Show HG00735.hp1 HG02258.hp1 HG03209.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0038 a0001c0002t0002g0005 a0001c0002t0002g0038	4	382	0.0105	100	c.15 others(111): Show c.1597_*1598insATATACACACACACACACACACCCCTGCTGTAAC TGAACCATAGGCCTAGGGCTGCTGGGAGTTGTAGTTTTACACACACACAC ATATACACACACACAT	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1355		chr19	TogoVar
SCD5_chr4_82624539_82803796	82712252	A A	ATATATAC others(93): Show ATATATACATATGTATATATATATATATATATATACATATATATATATAT ATACATATATATATATATATACGTATATATATATACATATATATATATAC G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0007 a0001c0001t0006g0008	2	210	0.0095	100	c.233 others(117): Show c.233-6840_233-6839insCGTATATATATATATGTATATATATATA CGTATATATATATATATATGTATATATATATATATATGTATATATATATA TATATATATACATATGTATATA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712256	A A	ATACATAT others(93): Show ATACATATATATATATATATATATATATATACGTATATATATATATATAC ACATATATATATATATATACGTATATATATACATATATATATATATATAC G	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	210	0.0048	100	c.233 others(117): Show c.233-6844_233-6843insCGTATATATATATATATATGTATATATA TACGTATATATATATATATATGTGTATATATATATATATACGTATATATA TATATATATATATATATATGTA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712258	A A	ACATATAT others(93): Show ACATATATATATATATATATATATATATACATATATATATATATATATAT ACATATATATATATATACGTATATATATATACATATATATATATATATAC G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	210	0.0048	100	c.233 others(117): Show c.233-6846_233-6845insCGTATATATATATATATATGTATATATA TATACGTATATATATATATATGTATATATATATATATATATATGTATATA TATATATATATATATATATATG	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712258	A A	ACATATAT others(93): Show ACATATATATATATATATATATATATATATACATATATATATATATATAT ACATATATATATATATATACGTATATATATATACATATATATATATATAC G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0066 a0001c0001t0005g0066	1	210	0.0048	100	c.233 others(117): Show c.233-6846_233-6845insCGTATATATATATATATGTATATATATA TACGTATATATATATATATATGTATATATATATATATATATGTATATATA TATATATATATATATATATATG	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712281	T T	TATATACA others(93): Show TATATACATATATATATATATATACACATATATATATATATATACGTATA TATATACATATATATATATATATACGTATATATATATATATATATATACA C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	210	0.0048	100	c.233 others(117): Show c.233-6869_233-6868insGTGTATATATATATATATATATATACGT ATATATATATATATATGTATATATATACGTATATATATATATATATGTGT ATATATATATATATATGTATAT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712283	T T	TACATATA others(93): Show TACATATATATATATATATATATACATATATATATATATATATACGTATA TATATATACATATATATATATATATACGTGTATATATATATATATATATA C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	210	0.0048	100	c.233 others(117): Show c.233-6871_233-6870insGTATATATATATATATATATACACGTAT ATATATATATATATGTATATATATATACGTATATATATATATATATATGT ATATATATATATATATATATGT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCNN1D_chr1_1275436_1297025	1288309	T T	TCCCCCGT others(93): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCCCGAGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTC C	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0032 a0002c0003t0002g0032	1	290	0.0035	100	c.166 others(117): Show c.1662+275_1662+276insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGAGTCTCTGCCCCGTCCC CCGTGTCTCTGCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288719	T T	TCCCCCGT others(93): Show TCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTC C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0083 a0002c0003t0002g0083	1	290	0.0035	100	c.166 others(117): Show c.1662+685_1662+686insCCGTGTCCCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCCCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289317	T T	TCCCCCGT others(93): Show TCCCCCGTGTCTCTGCCCCGTCCCCCGAGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC C	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0063 a0002c0003t0001g0063	1	290	0.0035	100	c.166 others(117): Show c.1663-951_1663-950insCCGTGTCTCTGCCCCGTCCCCCGAGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289579	T T	TCCCGTGT others(93): Show TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTC C	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	290	0.0035	100	c.166 others(117): Show c.1663-679_1663-678insCCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444880	C C	CACATATA others(93): Show CACATATATACGTATGTATATATATACACATATATACGTATGTATATATA TACACATATATACGTATGTATATATATACATATATACGTATGAATATATA T	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	290	0.0035	100	c.114 others(119): Show c.1140+1878_1140+1879insATATATATTCATACGTATATATGTAT ATATATACATACGTATATATGTGTATATATATACATACGTATATATGTGT ATATATATACATACGTATATATGT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43280396	C C	CGTCCCTT others(93): Show CGTCCCTTCCCCTCACCCATCCCCCTGTCCCTTCCCCTCACCCATCCTCC CGTCCCTTCCCCTCACCCATCCCCCTGTCCCTTCCCCTCACCCATCCTGC T	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18943.hp1 HG02165.hp2 NA18943.hp1	a0003 a0003	a0003c0001 a0003c0007 a0003c0001 a0003c0007	a0003c0001t0001 a0003c0007t0001 a0003c0001t0001 a0003c0007t0001	a0003c0001t0001g0179 a0003c0007t0001g0226 a0003c0001t0001g0179 a0003c0007t0001g0226	2	280	0.0071	100	c.484 others(119): Show c.484+10649_484+10650insAGCAGGATGGGTGAGGGGAAGGGACA GGGGGATGGGTGAGGGGAAGGGACGGGAGGATGGGTGAGGGGAAGGGACA GGGGGATGGGTGAGGGGAAGGGAC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280396	C C	CGTCCCTT others(93): Show CGTCCCTTCCCCTCACCCATCCTCCTGTCCCTTCCCCTCACCCATCCCCC TGTCCCTTCCCCTCACCCATCCCCCTGTCCCTTCCCCTCACCCATCCTGC T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00558.hp1 others(24): Show HG00099.hp2 HG00544.hp2 HG00558.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01081.hp2 HG01109.hp2 HG01515.hp1 HG01517.hp2 HG02004.hp2 HG02015.hp1 HG02258.hp1 HG02451.hp2 HG02615.hp1 HG02735.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 NA18950.hp1 NA18966.hp2 NA18990.hp1 NA19007.hp1 NA19064.hp1 NA19068.hp1 NA19083.hp1 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0016	a0001c0003 a0001c0004 a0001c0010 others(13): Show a0001c0003 a0001c0004 a0001c0010 a0001c0012 a0001c0013 a0001c0018 a0001c0039 a0001c0044 a0002c0002 a0002c0005 a0002c0009 a0002c0046 a0003c0001 a0004c0011 a0006c0015 a0016c0036	a0001c0003t0003 a0001c0004t0004 a0001c0004t0037 others(19): Show a0001c0003t0003 a0001c0004t0004 a0001c0004t0037 a0001c0004t0088 a0001c0010t0092 a0001c0012t0043 a0001c0013t0004 a0001c0018t0008 a0001c0039t0040 a0001c0044t0035 a0002c0002t0002 a0002c0002t0010 a0002c0002t0024 a0002c0002t0068 a0002c0005t0001 a0002c0005t0048 a0002c0009t0090 a0002c0046t0069 a0003c0001t0001 a0004c0011t0006 a0006c0015t0007 a0016c0036t0002	a0001c0003t0003g0090 a0001c0004t0004g0181 a0001c0004t0037g0249 others(24): Show a0001c0003t0003g0090 a0001c0004t0004g0181 a0001c0004t0037g0249 a0001c0004t0088g0276 a0001c0010t0092g0274 a0001c0012t0043g0161 a0001c0013t0004g0099 a0001c0018t0008g0257 a0001c0039t0040g0134 a0001c0044t0035g0212 a0002c0002t0002g0153 a0002c0002t0010g0147 a0002c0002t0024g0182 a0002c0002t0068g0186 a0002c0005t0001g0094 a0002c0005t0001g0185 a0002c0005t0048g0128 a0002c0009t0090g0270 a0002c0046t0069g0192 a0003c0001t0001g0087 a0003c0001t0001g0088 a0003c0001t0001g0243 a0003c0001t0001g0244 a0003c0001t0001g0245 a0004c0011t0006g0237 a0006c0015t0007g0092 a0016c0036t0002g0136	27	280	0.0964	100	c.484 others(119): Show c.484+10649_484+10650insAGCAGGATGGGTGAGGGGAAGGGACA GGGGGATGGGTGAGGGGAAGGGACAGGGGGATGGGTGAGGGGAAGGGACA GGAGGATGGGTGAGGGGAAGGGAC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280396	C C	CGTCCCTT others(93): Show CGTCCCTTCCCCTCACCCATCCTCCTGTCCCTTCCCCTCACCCATCCTCC CGTCCCTTCCCCTCACCCATCCCCCTGTCCCTTCCCCTCACCCATCCTGC T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02976.hp1 NA18522.hp2 HG01891.hp1 HG02976.hp1 NA18522.hp2	a0002 a0013 a0002 a0013	a0002c0002 a0002c0042 a0013c0057 a0002c0002 a0002c0042 a0013c0057	a0002c0002t0005 a0002c0042t0012 a0013c0057t0077 a0002c0002t0005 a0002c0042t0012 a0013c0057t0077	a0002c0002t0005g0241 a0002c0042t0012g0246 a0013c0057t0077g0149 a0002c0002t0005g0241 a0002c0042t0012g0246 a0013c0057t0077g0149	3	280	0.0107	100	c.484 others(119): Show c.484+10649_484+10650insAGCAGGATGGGTGAGGGGAAGGGACA GGGGGATGGGTGAGGGGAAGGGACGGGAGGATGGGTGAGGGGAAGGGACA GGAGGATGGGTGAGGGGAAGGGAC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280444	C C	CCTGTCCC others(93): Show CCTGTCCCTTCCCCTCACCCATCCTGCTGTCCCTTCCCCTCACCCATCCT CCTGTCCCTTCCCCTCACCCATCCCCCTGTCCCTTCCCCTCACCCATCCT G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG04204.hp1 NA20129.hp1 HG01981.hp1 HG04204.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0010 a0001c0003 a0001c0008 a0001c0010	a0001c0003t0003 a0001c0008t0009 a0001c0010t0076 a0001c0003t0003 a0001c0008t0009 a0001c0010t0076	a0001c0003t0003g0127 a0001c0008t0009g0200 a0001c0010t0076g0040 a0001c0003t0003g0127 a0001c0008t0009g0200 a0001c0010t0076g0040	3	280	0.0107	100	c.484 others(119): Show c.484+10601_484+10602insCAGGATGGGTGAGGGGAAGGGACAGG GGGATGGGTGAGGGGAAGGGACAGGAGGATGGGTGAGGGGAAGGGACAGC AGGATGGGTGAGGGGAAGGGACAG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SDF2_chr17_28643346_28666906	28654763	A A	AACACAGT others(93): Show AACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAATTAGC CAGGTGTGGTGGCACACGCCTGTAGTCCCAGCCACTCGGGCGGCTGAGAC T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	398	0.0025	100	c.348 others(115): Show c.348+523_348+524insAGTCTCAGCCGCCCGAGTGGCTGGGACTAC AGGCGTGTGCCACCACACCTGGCTAATTTTTTTTTTTTGTATTTTTAGTA GAGATGGGGTTTCACTGTGT	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding	2/2			chr17	TogoVar
SEC14L3_chr22_30454229_30477017	30454724	A A	AATATATA others(93): Show AATATATAATATATAATAATATTATTATATATAATATATAATAATATTAT TATATATAATATATAATAATATTATTATATATAATATATAATAATATTAT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 NA19030.hp1 HG03041.hp2 NA19030.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0058 a0006c0006t0001g0058	2	454	0.0044	100	c.52 others(111): Show c.5296_*5297insAATAATATTATTATATATTATATATAATAATATT ATTATATATTATATATAATAATATTATTATATATTATATATAATAATATT ATTATATATTATATAT	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4504		chr22	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(93): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAAAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02615.hp1 NA19011.hp2 HG00735.hp1 HG02615.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017	a0001c0001t0007g0269 a0001c0001t0011g0107 a0001c0001t0017g0007 a0001c0001t0007g0269 a0001c0001t0011g0107 a0001c0001t0017g0007	3	276	0.0109	100	c.453 others(119): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCCTTCC TTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(93): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAGAAAGAAAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18612.hp2 NA18942.hp1 HG04204.hp2 NA18612.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0001t0001 a0001c0001t0003 a0001c0001t0018	a0001c0001t0001g0202 a0001c0001t0003g0132 a0001c0001t0018g0003 a0001c0001t0001g0202 a0001c0001t0003g0132 a0001c0001t0018g0003	3	276	0.0109	100	c.453 others(119): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCTTTCC TTCCTTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(93): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAAAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA19070.hp2 HG02273.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0257 a0001c0001t0001g0176 a0001c0001t0001g0257	2	276	0.0073	100	c.453 others(119): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTCCTTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(93): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0168 a0001c0003t0020g0170 a0001c0003t0020g0168 a0001c0003t0020g0170	2	276	0.0073	100	c.453 others(119): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCCTTCCTTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80863846	A A	ATATCACA others(93): Show ATATCACATATGTATGTGATATGTGATATATATATATCACATATCACATA TATATGTATCACATATATATGTATCACATATATATGTATCACATATATAT G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00558.hp1 others(15): Show HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18953.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18972.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA19060.hp2 NA19063.hp1 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0013t0002 a0002c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0060 a0001c0001t0001g0073 others(15): Show a0001c0001t0001g0003 a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0101 a0001c0002t0001g0041 a0001c0002t0001g0059 a0001c0002t0001g0072 a0001c0002t0001g0078 a0001c0002t0001g0081 a0001c0002t0001g0084 a0001c0003t0002g0001 a0001c0003t0002g0002 a0001c0013t0002g0083 a0002c0005t0001g0077	18	244	0.0738	100	c.104 others(119): Show c.104-35102_104-35101insCATATATATGTGATACATATATATGT GATACATATATATGTGATACATATATATGTGATATGTGATATATATATAT CACATATCACATACATATGTGATA	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SEPTIN5_chr22_19709503_19728319	19726364	A A	ACGCTGTG others(93): Show ACGCTGTGGACGCCGTGAGGACGCTGTCGGGGCCGTGAGGACGCTGTCGG GGCGGTGAGGACGCTGTCGGGACGGTGAGGGCGCTGTGGACGCGGTGAGG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG03710.hp2 NA18942.hp1 others(1): Show HG02809.hp1 HG03710.hp2 NA18942.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	384	0.0104	100	c.38 others(111): Show c.3880_*3881insCGCTGTGGACGCCGTGAGGACGCTGTCGGGGCCG TGAGGACGCTGTCGGGGCGGTGAGGACGCTGTCGGGACGGTGAGGGCGCT GTGGACGCGGTGAGGG	SEPTIN5	ENSG00000184702.20	transcript	ENST00000455784.7	protein_coding		3046		chr22	TogoVar
SERAC1_chr6_158104519_158173262	158127371	T T	TGGGGGGG others(93): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCTTCCGGGAGGGAGGTG G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	366	0.0027	100	c.101 others(117): Show c.1015+736_1015+737insCCACCTCCCTCCCGGAAGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCC	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	10/16			chr6	TogoVar
SFMBT2_chr10_7153624_7416034	7378215	T T	TGGATGGA others(93): Show TGGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGG TGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGT G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG03225.hp1 others(1): Show HG01243.hp1 HG02451.hp2 HG03225.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0001t0032 a0001c0002t0004 a0001c0001t0017 a0001c0001t0032 a0001c0002t0004	a0001c0001t0017g0021 a0001c0001t0017g0048 a0001c0001t0032g0071 others(1): Show a0001c0001t0017g0021 a0001c0001t0017g0048 a0001c0001t0032g0071 a0001c0002t0004g0042	4	144	0.0278	100	c.100 others(117): Show c.100+3583_100+3584insCACCCATCCACACATACACCCACACACA CCCACACTCACACCCATCCATCACCCATCCACACATACACCCACACACAC CCACACTCACACCCATCCATCC	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	2/20			chr10	TogoVar
SGCD_chr5_156322164_156772788	156423327	T T	TTATTATA others(93): Show TTATTATAATATAATATATTTTATTATAATATAATATATTTTATTATAAT ATAATATATTTTATTATAATATAATATATTTTATTATAATATAATATATT A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02698.hp2 HG03098.hp1 others(1): Show HG01071.hp2 HG02698.hp2 HG03098.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0026 a0001c0002t0002 a0001c0002t0004 others(1): Show a0001c0001t0026 a0001c0002t0002 a0001c0002t0004 a0001c0002t0023	a0001c0001t0026g0016 a0001c0002t0002g0061 a0001c0002t0004g0113 others(1): Show a0001c0001t0026g0016 a0001c0002t0002g0061 a0001c0002t0004g0113 a0001c0002t0023g0112	4	150	0.0267	100	c.192 others(119): Show c.192+78669_192+78670insTTATTATAATATAATATATTTTATTA TAATATAATATATTTTATTATAATATAATATATTTTATTATAATATAATA TATTATATTATAATATAATATATT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGIP1_chr1_66529153_66756139	66630849	A A	AAGAAAGA others(93): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAGAGAGAGAGAGAGAA AGAAAGAAAGAAAGAAAGAAAGAGAAGAAAGAAAGAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0033 a0002c0003t0033	a0002c0003t0033g0262 a0002c0003t0033g0262	1	302	0.0033	100	c.75- others(115): Show c.75-2189_75-2188insGAGAGAGAGAGAGAGAAAGAAAGAAAGAAA GAAAGAAAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGSM2_chr17_2332501_2386054	2355198	A A	ACCCCATA others(93): Show ACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGCAGGG GCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGCAGGG G	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02083.hp1 HG02132.hp1 others(15): Show HG02056.hp1 HG02083.hp1 HG02132.hp1 HG02602.hp2 HG02717.hp1 HG03579.hp1 NA18522.hp1 NA18942.hp2 NA18946.hp2 NA18952.hp2 NA18979.hp2 NA18981.hp1 NA18992.hp1 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19067.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0003 a0004c0011 others(1): Show a0001c0001 a0001c0003 a0004c0011 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0004c0011t0001 a0005c0009t0002	a0001c0001t0001g0081 a0001c0001t0001g0122 a0001c0001t0001g0123 others(15): Show a0001c0001t0001g0081 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0332 a0001c0001t0001g0349 a0001c0001t0002g0382 a0001c0003t0001g0194 a0001c0003t0001g0294 a0001c0003t0001g0338 a0001c0003t0001g0360 a0001c0003t0001g0362 a0001c0003t0001g0387 a0001c0003t0002g0380 a0004c0011t0001g0155 a0004c0011t0001g0385 a0005c0009t0002g0378 a0005c0009t0002g0383 a0005c0009t0002g0384	18	422	0.0427	100	c.134 others(117): Show c.134-6345_134-6344insCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355202	C C	CATATCTT others(93): Show CATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGCAGGGGCCC CATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGCAGGGGCCC T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03471.hp1 HG02976.hp2 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0002 a0001c0005t0002 a0001c0003t0002 a0001c0005t0002	a0001c0003t0002g0274 a0001c0005t0002g0272 a0001c0003t0002g0274 a0001c0005t0002g0272	2	422	0.0047	100	c.134 others(117): Show c.134-6345_134-6344insCAGGGGCCCTATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH3BP5_chr3_15249353_15337586	15265512	T T	TCACACAC others(93): Show TCACACACACACACACACACACACACACACACACACACACACACACACAC ACACACACACACACACACACACACACACACACACACACACACACACACAC A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0149 a0001c0002t0017g0149	1	376	0.0027	100	c.496 others(117): Show c.496-3224_496-3223insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTG	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	4/8			chr3	TogoVar
SH3GL2_chr9_17574066_17802124	17700051	C C	CAAGAAGA others(93): Show CAAGAAGAAAATTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTC CGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00673.hp2 others(14): Show HG00408.hp2 HG00438.hp2 HG00673.hp2 HG01243.hp1 HG02015.hp1 HG02040.hp1 HG02145.hp1 HG02630.hp1 HG06807.hp1 NA18939.hp1 NA18943.hp1 NA18989.hp2 NA19002.hp1 NA19030.hp1 NA19064.hp1 NA19079.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0019	a0001c0001t0001g0043 a0001c0001t0001g0068 a0001c0001t0001g0089 others(14): Show a0001c0001t0001g0043 a0001c0001t0001g0068 a0001c0001t0001g0089 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0136 a0001c0001t0001g0166 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0002g0241 a0001c0001t0009g0009 a0001c0001t0009g0181 a0001c0001t0019g0220	17	260	0.0654	100	c.46- others(117): Show c.46-47004_46-47003insTGCAGTGAGCCGAGATTGCGCCACTGCA GTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAGAAGAAAAT	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SHC2_chr19_411589_466033	432344	G G	GGGGCAGA others(93): Show GGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTA GAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGAGATAGAGGAGGC C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0010 a0001c0005t0006g0010	1	212	0.0047	100	c.111 others(119): Show c.1111-1598_1111-1597insGGCCTCCTCTATCTCTCACTCACGAT GAAGCGCCATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCA CGATGAAGCGCCATCTATCTGCCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(93): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGGAAAAGA A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0245 a0002c0002t0002g0245	1	256	0.0039	100	c.165 others(117): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGGAAAAGAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM3_chr4_76430229_76788253	76598835	T T	TAGTGACA others(93): Show TAGTGACAAAATCGGACTTGTGCTTACGAAAGACCATTCTGGCTGCATTT TGGGAGGTGGTTTTCAAGATGTTAAGTCTGAAGGAAAAGAAACTAGTGAG A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0205 a0002c0002t0003g0205	1	218	0.0046	100	c.323 others(119): Show c.323+43074_323+43173dupGTGACAAAATCGGACTTGTGCTTACG AAAGACCATTCTGGCTGCATTTTGGGAGGTGGTTTTCAAGATGTTAAGTC TGAAGGAAAAGAAACTAGTGAGAA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC15A4_chr12_128788194_128828958	128814214	C C	CGTATGAT others(93): Show CGTATGATGGACCTGACCGCCGTATGATGGACCTGACCACCGTATGATGG ACCTGACCACTGTATGATGGACCTGAGCGCCGTATGATGGACCTGACCGC T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0137 a0001c0004t0001g0137	1	418	0.0024	100	c.842 others(115): Show c.842+560_842+561insAGCGGTCAGGTCCATCATACGGCGCTCAGG TCCATCATACAGTGGTCAGGTCCATCATACGGTGGTCAGGTCCATCATAC GGCGGTCAGGTCCATCATAC	SLC15A4	ENSG00000139370.12	transcript	ENST00000266771.10	protein_coding	2/7			chr12	TogoVar
SLC15A4_chr12_128788194_128828958	128814214	C C	CGTATGAT others(93): Show CGTATGATGGACCTGACCGCCGTATGATGGACCTGACCACCGTATGATGG ACCTGACCGCTGTATGATGGACCTGAGCGCCGTATGATGGACCTGACCGC T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00438.hp1 others(100): Show HG00099.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01943.hp2 HG01981.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02293.hp1 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02886.hp2 HG03098.hp1 HG03139.hp1 HG03239.hp1 HG03453.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18962.hp2 NA18965.hp2 NA18969.hp2 NA18973.hp1 NA18979.hp2 NA18981.hp1 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18999.hp2 NA19002.hp2 NA19006.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19083.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0008 a0009 others(3): Show a0001 a0008 a0009 a0012 a0013 a0014	a0001c0001 a0001c0004 a0001c0005 others(7): Show a0001c0001 a0001c0004 a0001c0005 a0001c0017 a0001c0020 a0008c0015 a0009c0018 a0012c0012 a0013c0025 a0014c0010	a0001c0001t0001 a0001c0001t0014 a0001c0001t0023 others(9): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0023 a0001c0004t0001 a0001c0005t0002 a0001c0017t0001 a0001c0020t0020 a0008c0015t0001 a0009c0018t0001 a0012c0012t0001 a0013c0025t0001 a0014c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 others(66): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0070 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0014g0139 a0001c0001t0023g0126 a0001c0004t0001g0012 a0001c0004t0001g0127 a0001c0004t0001g0128 a0001c0004t0001g0131 a0001c0004t0001g0132 a0001c0005t0002g0019 a0001c0005t0002g0140 a0001c0005t0002g0141 a0001c0017t0001g0118 a0001c0020t0020g0120 a0008c0015t0001g0109 a0009c0018t0001g0143 a0012c0012t0001g0065 a0013c0025t0001g0282 a0014c0010t0001g0063	103	418	0.2464	100	c.842 others(115): Show c.842+560_842+561insAGCGGTCAGGTCCATCATACGGCGCTCAGG TCCATCATACAGCGGTCAGGTCCATCATACGGTGGTCAGGTCCATCATAC GGCGGTCAGGTCCATCATAC	SLC15A4	ENSG00000139370.12	transcript	ENST00000266771.10	protein_coding	2/7			chr12	TogoVar
SLC15A4_chr12_128788194_128828958	128814214	C C	CGTATGAT others(93): Show CGTATGATGGACCTGACCGCCGTATGATGGACCTGACCGCCGTATGATGG ACCTGACCGCTGTATGATGGACCTGAGCGCCGTATGATGGACCTGACCGC T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	418	0.0024	100	c.842 others(115): Show c.842+560_842+561insAGCGGTCAGGTCCATCATACGGCGCTCAGG TCCATCATACAGCGGTCAGGTCCATCATACGGCGGTCAGGTCCATCATAC GGCGGTCAGGTCCATCATAC	SLC15A4	ENSG00000139370.12	transcript	ENST00000266771.10	protein_coding	2/7			chr12	TogoVar
SLC22A24_chr11_63074940_63149221	63092529	C C	CATGGTAC others(93): Show CATGGTACTGATATATATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATGGAACAGAACAGAGACCTCAGA A	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18955.hp2 NA19086.hp2 HG02293.hp1 NA18955.hp2 NA19086.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0001 a0003c0003t0002 a0004c0004t0001 a0001c0001t0001 a0003c0003t0002 a0004c0004t0001	a0001c0001t0001g0290 a0003c0003t0002g0029 a0004c0004t0001g0124 a0001c0001t0001g0290 a0003c0003t0002g0029 a0004c0004t0001g0124	3	366	0.0082	100	c.107 others(119): Show c.1070+3461_1070+3462insTTCTGAGGTCTCTGTTCTGTTCCATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATCAGTACCAT	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	6/9			chr11	TogoVar
SLC28A1_chr15_84879662_84950798	84928527	G G	GTTCGTTC others(93): Show GTTCGTTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC C	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0108 a0009c0013t0001g0108	1	396	0.0025	100	c.108 others(119): Show c.1083+4420_1083+4421insGTTCGTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTCTCTCTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928527	G G	GTTCGTTC others(93): Show GTTCGTTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC C	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02135.hp2 NA18961.hp1 others(1): Show HG02129.hp1 HG02135.hp2 NA18961.hp1 NA18961.hp2	a0002 a0004 a0018 a0002 a0004 a0018	a0002c0014 a0004c0003 a0018c0052 a0002c0014 a0004c0003 a0018c0052	a0002c0014t0001 a0004c0003t0001 a0004c0003t0016 others(1): Show a0002c0014t0001 a0004c0003t0001 a0004c0003t0016 a0018c0052t0001	a0002c0014t0001g0306 a0004c0003t0001g0357 a0004c0003t0016g0359 others(1): Show a0002c0014t0001g0306 a0004c0003t0001g0357 a0004c0003t0016g0359 a0018c0052t0001g0084	4	396	0.0101	100	c.108 others(119): Show c.1083+4420_1083+4421insGTTCGTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928527	G G	GTTCGTTC others(93): Show GTTCGTTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTCTCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC C	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA19058.hp1 HG02155.hp1 NA19058.hp1	a0004 a0013 a0004 a0013	a0004c0003 a0013c0030 a0004c0003 a0013c0030	a0004c0003t0001 a0013c0030t0001 a0004c0003t0001 a0013c0030t0001	a0004c0003t0001g0050 a0013c0030t0001g0300 a0004c0003t0001g0050 a0013c0030t0001g0300	2	396	0.0051	100	c.108 others(119): Show c.1083+4420_1083+4421insGTTCGTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928527	G G	GTTCGTTC others(93): Show GTTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0145 a0002c0001t0001g0145	1	396	0.0025	100	c.108 others(119): Show c.1083+4420_1083+4421insGTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTCTCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928539	T T	TTTCTTTC others(93): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0009 a0009	a0009c0057 a0009c0057	a0009c0057t0001 a0009c0057t0001	a0009c0057t0001g0393 a0009c0057t0001g0393	1	396	0.0025	100	c.108 others(119): Show c.1083+4469_1083+4470insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928539	T T	TTTCTTTC others(93): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC C	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18522.hp2 NA18972.hp2 HG02809.hp1 NA18522.hp2 NA18972.hp2	a0001 a0008 a0013 a0001 a0008 a0013	a0001c0004 a0008c0010 a0013c0060 a0001c0004 a0008c0010 a0013c0060	a0001c0004t0001 a0008c0010t0002 a0013c0060t0001 a0001c0004t0001 a0008c0010t0002 a0013c0060t0001	a0001c0004t0001g0014 a0008c0010t0002g0189 a0013c0060t0001g0260 a0001c0004t0001g0014 a0008c0010t0002g0189 a0013c0060t0001g0260	3	396	0.0076	100	c.108 others(119): Show c.1083+4473_1083+4474insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928539	T T	TTTCTTTC others(93): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC C	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19080.hp1 NA21309.hp1 NA18971.hp1 NA19080.hp1 NA21309.hp1	a0001 a0006 a0025 a0001 a0006 a0025	a0001c0008 a0006c0016 a0025c0053 a0001c0008 a0006c0016 a0025c0053	a0001c0008t0001 a0006c0016t0001 a0025c0053t0001 a0001c0008t0001 a0006c0016t0001 a0025c0053t0001	a0001c0008t0001g0051 a0006c0016t0001g0327 a0025c0053t0001g0271 a0001c0008t0001g0051 a0006c0016t0001g0327 a0025c0053t0001g0271	3	396	0.0076	100	c.108 others(119): Show c.1083+4477_1083+4478insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928543	T T	TTTCTTTC others(93): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0122 a0004c0003t0001g0122	1	396	0.0025	100	c.108 others(119): Show c.1083+4469_1083+4470insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928543	T T	TTTCTTTC others(93): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03942.hp1 HG00621.hp1 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0014 a0001c0002 a0002c0014	a0001c0002t0001 a0002c0014t0001 a0001c0002t0001 a0002c0014t0001	a0001c0002t0001g0086 a0002c0014t0001g0142 a0001c0002t0001g0086 a0002c0014t0001g0142	2	396	0.0051	100	c.108 others(119): Show c.1083+4473_1083+4474insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928543	T T	TTTCTTTC others(93): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0308 a0002c0001t0002g0308	1	396	0.0025	100	c.108 others(119): Show c.1083+4481_1083+4482insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928543	T T	TTTCTTTC others(93): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0241 a0001c0002t0002g0241	1	396	0.0025	100	c.108 others(119): Show c.1083+4485_1083+4486insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar

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Search Results (Total: 10000 hits)