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
SAT1_chrX_23778173_23791210	23780146	T T	TACGTATA others(203): Show TACGTATATATACACACATATATATGTGTATATATATATACGTATATATA CACACATATATATGTGTATATATATACGTATATATACACATATATATGTG TATATATATACGTATATATACACATATATATGTGTATATATACGTATATA TATACACATATATATGTGTATATATACGTATATATATACACATATATATG TGTATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 NA18962.hp1 others(3): Show HG01069.hp1 HG01071.hp2 NA18962.hp1 NA18998.hp1 NA19055.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0005 a0001c0001t0001g0006	6	330	0.0182	210	c.-32 others(221): Show c.-3206_-3205insACGTATATATACACACATATATATGTGTATATAT ATATACGTATATATACACACATATATATGTGTATATATATACGTATATAT ACACATATATATGTGTATATATATACGTATATATACACATATATATGTGT ATATATACGTATATATATACACATATATATGTGTATATATACGTATATAT ATACACATATATATGTGTATATATAC	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		3026		chrX	TogoVar
SCGB1C1_chr11_188078_199575	196540	G G	GGGGGGAC others(203): Show GGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGACATGGTGAGGGGAGC ATGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGG ACATGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAGCCTTGGTG AGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGGGACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	354	0.0028	210	c.20 others(221): Show c.2090_*2091insGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGA CATGGTGAGGGGAGCATGGTGAGGGGACATGGGGGGGACCTTGGTGAGGA GGACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAACATGGG TGGGGAGCCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTT GGTGAGGGGACCTGGTGAGGGGACAT	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1966		chr11	TogoVar
SCHIP1_chr3_159268244_159902359	159680706	T T	TATATATA others(203): Show TATATATAATATATGTATATATAATATACATATATTATATATGTATATAT ATACATATATAATATATGTGTATATATATAATATACATATATTATATATG TATATATATACATATATAATATATGTATATTATATATATATACATATAAT ATACATATATTATATATGTATATATATACATATATAATATATGTATATTA TATATATATAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp1 HG02622.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0031 a0001c0002t0002g0047 a0001c0001t0001g0031 a0001c0002t0002g0047	2	100	0.0200	210	c.64- others(227): Show c.64-83715_64-83714insATATACATATATTATATATGTATATATA TACATATATAATATATGTGTATATATATAATATACATATATTATATATGT ATATATATACATATATAATATATGTATATTATATATATATACATATAATA TACATATATTATATATGTATATATATACATATATAATATATGTATATTAT ATATATATACATATATAATATATGTATATATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159680727	T T	TAATATAC others(203): Show TAATATACATATATTATATATGTATATATATACATATATAATATATGTAT ATATAATATACATATATAATATATGTATATATAATATACATATATAATAT ATGTATATATATATACATATATAATATATGTATATATATATAATATATAT ACATATATATTATATATATATATGTATATACATATACATATATAATAATA TACAATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01978.hp1 NA18747.hp2 HG00438.hp1 HG01978.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0064 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0064	3	100	0.0300	210	c.64- others(227): Show c.64-83715_64-83714insATATACATATATTATATATGTATATATA TACATATATAATATATGTATATATAATATACATATATAATATATGTATAT ATAATATACATATATAATATATGTATATATATATACATATATAATATATG TATATATATATAATATATATACATATATATTATATATATATATGTATATA CATATACATATATAATAATATACAATATATAA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(203): Show ATAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAG TGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTGT AAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTG CAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAA ACAGTGCAGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01496.hp2 HG01928.hp1 others(22): Show HG00408.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02135.hp1 HG02165.hp1 HG02273.hp2 HG02523.hp2 NA18947.hp2 NA18952.hp1 NA18978.hp2 NA18980.hp2 NA18986.hp2 NA19003.hp1 NA19004.hp2 NA19012.hp2 NA19064.hp2 NA19074.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0003t0005	a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0187 others(19): Show a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0003g0195 a0001c0002t0002g0201 a0001c0003t0005g0314	25	386	0.0648	210	c.21+ others(225): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTG TTTACACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACT GCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTT TACACTGCACTGTTTATACTGCACTGTTTA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(203): Show ATAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAG TGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTGT AAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTGTAAACAGTG CAGTGTAAACAGTGCAGTGTAAACAGTGCAGTGTAAACAGTGCAGTATAA ACAGTGCAGTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01358.hp1 HG01069.hp2 HG01071.hp2 HG01358.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0310 a0001c0003t0005g0311 a0001c0003t0005g0312 a0001c0003t0005g0310 a0001c0003t0005g0311 a0001c0003t0005g0312	3	386	0.0078	210	c.21+ others(225): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTACACTGCACTGTTTACACTGCACTGTTTACACTGCACTG TTTACACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACT GCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTT TACACTGCACTGTTTATACTGCACTGTTTA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(203): Show ATAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAG TGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTGT AAACAGTGCAGTGTAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTG CAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAA ACAGTGCAGTG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02300.hp2 NA18975.hp2 HG01975.hp2 HG02300.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0179 a0001c0001t0001g0018 a0001c0001t0001g0179	3	386	0.0078	210	c.21+ others(225): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTG TTTACACTGCACTGTTTACACTGCACTGTTTACACTGCACTGTTTACACT GCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTT TACACTGCACTGTTTATACTGCACTGTTTA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(203): Show ATAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAG TGCAGTGTAAACAGTGCAGTGTAAACAGTGCAGTGTAAACAGTGCAGTGT AAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTG CAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAA ACAGTGCAGTG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	386	0.0026	210	c.21+ others(225): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTG TTTACACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACT GCACTGTTTACACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTT TACACTGCACTGTTTATACTGCACTGTTTA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCLY_chr2_238056001_238104413	238098619	G G	GGGAACGC others(203): Show GGGAACGCCCACATAGGACCGCCCACATGGGACCGCCCACATGGGAACGC CCACATAGGACCGCCCACATGGGACCGCCCACATGGGAACGCCCACATAG GACCGCCCACATGGGAACGCCCACATAGGACCGCCCACATGGGACCGCCC ACATGGGAACGCCCACATAGGACCGCCCACATGGGACCGCCCACATGGGA ACGCCCACATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0087 a0005c0019t0087	a0005c0019t0087g0123 a0005c0019t0087g0123	1	392	0.0026	210	c.26 others(219): Show c.267_*268insACGCCCACATAGGACCGCCCACATGGGACCGCCCAC ATGGGAACGCCCACATAGGACCGCCCACATGGGACCGCCCACATGGGAAC GCCCACATAGGACCGCCCACATGGGAACGCCCACATAGGACCGCCCACAT GGGACCGCCCACATGGGAACGCCCACATAGGACCGCCCACATGGGACCGC CCACATGGGAACGCCCACATAGGA	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	268	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098626	C C	CCCACATA others(203): Show CCCACATAGAACCGTCCACATAGGACCGCCCACATAGAACCGCCCACATG GGAACGCCCACATAGGACCGCCCACATAGGACCGCCCACATGGGAACGCC CACATAGGACCGCCCACATAGGACCGCCCACATAGAACCGCCCACATGGG AACGCCCACATAGGACCGCCCACATAGGACCGCCCACATGGGACCGCCCA CATAGAACCGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0189 a0001c0001t0054g0190 a0001c0001t0054g0189 a0001c0001t0054g0190	2	392	0.0051	210	c.27 others(219): Show c.277_*278insAGAACCGTCCACATAGGACCGCCCACATAGAACCGC CCACATGGGAACGCCCACATAGGACCGCCCACATAGGACCGCCCACATGG GAACGCCCACATAGGACCGCCCACATAGGACCGCCCACATAGAACCGCCC ACATGGGAACGCCCACATAGGACCGCCCACATAGGACCGCCCACATGGGA CCGCCCACATAGAACCGTCCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	278	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098626	C C	CCCACATA others(203): Show CCCACATAGGACCGCCCACATGGGACCGCCCACATAGGACCGCCCACATA GAACCGCCCACATAGGACCGCCCACATGGGACCGCCCACATGGGAACGCC CACATAGGACCGCCCACATAGGACCGCCCACATGGGACCGCCCACATAGA ACCGCCCACATGGGACCGCCCACATGGGAACGCCCACATGGGAACGCCCA CATGGGACCGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG02622.hp2 others(6): Show HG02055.hp2 HG02451.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02897.hp2 HG03098.hp1 HG03225.hp1 HG03516.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0007 a0003c0006t0007	a0003c0006t0007g0037 a0003c0006t0007g0294 a0003c0006t0007g0295 others(5): Show a0003c0006t0007g0037 a0003c0006t0007g0294 a0003c0006t0007g0295 a0003c0006t0007g0296 a0003c0006t0007g0297 a0003c0006t0007g0298 a0003c0006t0007g0299 a0003c0006t0007g0300	9	392	0.0230	210	c.27 others(219): Show c.277_*278insAGGACCGCCCACATGGGACCGCCCACATAGGACCGC CCACATAGAACCGCCCACATAGGACCGCCCACATGGGACCGCCCACATGG GAACGCCCACATAGGACCGCCCACATAGGACCGCCCACATGGGACCGCCC ACATAGAACCGCCCACATGGGACCGCCCACATGGGAACGCCCACATGGGA ACGCCCACATGGGACCGTCCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	278	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1289785	C C	CCGTGTCT others(203): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCCCCGTCCCCCGAGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0101 a0002c0003t0002g0101	1	290	0.0035	210	c.166 others(227): Show c.1663-485_1663-484insGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGAGTCTCTGCCCCG TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA3E_chr7_83358238_83654139	83389951	T T	TATTACAT others(203): Show TATTACATGTATACATATATACACGTATATATTACATGTATACATATATA CACGTATATATTACATGTATACATATATACACGTATATATTACATGTATA CATATATACACGTATATATTACATGTATACATATATACACGTATATGTGT ATAGTGTATACGTATACACATATATACGCGTATATATGTGTATACGTATA CACATATATAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0155 a0001c0003t0002g0155	1	226	0.0044	210	c.166 others(229): Show c.1667+2603_1667+2604insGTATATATGTGTATACGTATACACAT ATATACGCGTATATATGTGTATACGTATACACTATACACATATACGTGTA TATATGTATACATGTAATATATACGTGTATATATGTATACATGTAATATA TACGTGTATATATGTATACATGTAATATATACGTGTATATATGTATACAT GTAATATATACGTGTATATATGTATACATGTAAT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SGCD_chr5_156322164_156772788	156423193	A A	AATATTAT others(203): Show AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA TAATATAATATAATATTTTATTATAATATAATATTATATTTTATTATAAT ATAATATTATATTATAATATAATATAATATTGTATTATATTTTATTATAA TATAATATATTATATTATAATATATTATATTTTATTATAATATAATATAT TATATTATAAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA19030.hp1 HG02129.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0015 a0001c0001t0027g0011 a0001c0001t0001g0015 a0001c0001t0027g0011	2	150	0.0133	210	c.192 others(229): Show c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT ATAATATTTTATTATAATATAATATTATATTTTATTATAATATAATATTA TATTATAATATAATATAATATTGTATTATATTTTATTATAATATAATATA TTATATTATAATATATTATATTTTATTATAATATAATATATTATATTATA ATATATTATATTTTATTATAATATAATATAATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156423193	A A	AATATTAT others(203): Show AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA TAATATAATATTATATTTTATTATAATATAATATTATATTTTATTATAAT ATAATATTATATTATAATATAATATAATATTGTATTATATTTTATTATAA TATAATATATTATATTATAATATATTATATTTTATTATAATATAATATAT TATATTATAAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0048 a0001c0001t0014g0048	1	150	0.0067	210	c.192 others(229): Show c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT ATTATATTTTATTATAATATAATATTATATTTTATTATAATATAATATTA TATTATAATATAATATAATATTGTATTATATTTTATTATAATATAATATA TTATATTATAATATATTATATTTTATTATAATATAATATATTATATTATA ATATATTATATTTTATTATAATATAATATAATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SH2D4B_chr10_80532902_80651560	80543916	T T	TTGTCTAG others(203): Show TTGTCTAGCTCAGGGATTGTAAATACACCAATCGGCACTCTGTATCTAGC TCAAGGTTTGTAAACACACCAATCAGCACCCTATGTCTAGCTCAAGGTTT GTGAATGCACCAGTCGACACTCTGTATCTAGCTACTCTGGTGGGGACTTG GAGAACCTTTGTGTCCACACTCTGTATCTAGTTAATCTGGTGGGGACATG GAGAACCTTTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0288 a0002c0002t0001g0288	1	322	0.0031	210	c.184 others(227): Show c.184+5423_184+5424insTACACCAATCGGCACTCTGTATCTAGCT CAAGGTTTGTAAACACACCAATCAGCACCCTATGTCTAGCTCAAGGTTTG TGAATGCACCAGTCGACACTCTGTATCTAGCTACTCTGGTGGGGACTTGG AGAACCTTTGTGTCCACACTCTGTATCTAGTTAATCTGGTGGGGACATGG AGAACCTTTATGTCTAGCTCAGGGATTGTAAA	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80543916	T T	TTGTCTAG others(203): Show TTGTCTAGCTCAGGGATTGTAAATACACCAATCGGCACTCTGTATCTAGC TCAAGGTTTGTAAACACACCAATCAGCACCCTATGTCTAGCTCAAGGTTT GTGAATGCACCAGTCGACACTCTGTATCTAGCTACTCTGGTGGGGACTTG GAGAACCTTTGTGTCCACACTCTGTATCTAGTTAATCTGGTGGGGACGTG GAGAACCTTTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00558.hp1 others(137): Show HG00280.hp1 HG00323.hp1 HG00558.hp1 HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18954.hp1 NA18956.hp1 NA18963.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18977.hp1 NA18983.hp2 NA18990.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19076.hp2 NA19079.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018	a0001c0001 a0001c0006 a0001c0010 others(22): Show a0001c0001 a0001c0006 a0001c0010 a0001c0011 a0002c0002 a0002c0007 a0002c0012 a0002c0021 a0003c0003 a0004c0004 a0004c0016 a0004c0028 a0005c0005 a0006c0008 a0007c0015 a0007c0020 a0009c0009 a0010c0017 a0012c0019 a0013c0027 a0014c0026 a0015c0025 a0016c0024 a0017c0022 a0018c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0008 a0001c0010t0001 a0001c0010t0019 a0001c0011t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0007t0001 a0002c0007t0002 a0002c0007t0010 a0002c0007t0016 a0002c0007t0020 a0002c0012t0001 a0002c0021t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0011 a0004c0004t0001 a0004c0004t0013 a0004c0016t0001 a0004c0028t0001 a0005c0005t0001 a0005c0005t0002 a0005c0005t0003 a0005c0005t0006 a0005c0005t0009 a0005c0005t0015 a0006c0008t0001 a0006c0008t0005 a0006c0008t0006 a0007c0015t0006 a0007c0015t0007 a0007c0020t0001 a0009c0009t0001 a0009c0009t0027 a0010c0017t0001 a0010c0017t0003 a0012c0019t0001 a0013c0027t0001 a0014c0026t0006 a0015c0025t0009 a0016c0024t0031 a0017c0022t0017 a0018c0029t0004	a0001c0001t0001g0029 a0001c0001t0001g0065 a0001c0001t0001g0132 others(136): Show a0001c0001t0001g0029 a0001c0001t0001g0065 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0207 a0001c0001t0001g0290 a0001c0001t0002g0100 a0001c0001t0002g0108 a0001c0001t0002g0131 a0001c0001t0003g0080 a0001c0001t0003g0122 a0001c0001t0003g0287 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0007g0200 a0001c0001t0007g0201 a0001c0006t0001g0052 a0001c0006t0001g0095 a0001c0006t0001g0096 a0001c0006t0001g0115 a0001c0006t0001g0129 a0001c0006t0001g0134 a0001c0006t0002g0087 a0001c0006t0002g0092 a0001c0006t0002g0135 a0001c0006t0003g0128 a0001c0006t0008g0099 a0001c0010t0001g0015 a0001c0010t0001g0019 a0001c0010t0001g0020 a0001c0010t0019g0021 a0001c0011t0001g0027 a0001c0011t0001g0030 a0001c0011t0001g0031 a0001c0011t0001g0138 a0002c0002t0001g0017 a0002c0002t0001g0059 a0002c0002t0001g0063 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0001g0110 a0002c0002t0001g0127 a0002c0002t0001g0130 a0002c0002t0001g0185 a0002c0002t0001g0285 a0002c0002t0002g0054 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0003g0109 a0002c0002t0003g0318 a0002c0002t0004g0085 a0002c0002t0004g0086 a0002c0007t0001g0001 a0002c0007t0001g0009 a0002c0007t0001g0016 a0002c0007t0001g0022 a0002c0007t0002g0012 a0002c0007t0002g0013 a0002c0007t0002g0033 a0002c0007t0010g0005 a0002c0007t0016g0011 a0002c0007t0020g0034 a0002c0012t0001g0003 a0002c0012t0001g0094 a0002c0012t0001g0097 a0002c0021t0001g0003 a0003c0003t0001g0055 a0003c0003t0001g0057 a0003c0003t0001g0061 a0003c0003t0001g0064 a0003c0003t0001g0068 a0003c0003t0001g0076 a0003c0003t0001g0088 a0003c0003t0001g0091 a0003c0003t0001g0093 a0003c0003t0001g0098 a0003c0003t0001g0102 a0003c0003t0002g0058 a0003c0003t0002g0060 a0003c0003t0002g0062 a0003c0003t0002g0101 a0003c0003t0002g0103 a0003c0003t0011g0067 a0004c0004t0001g0075 a0004c0004t0001g0126 a0004c0004t0013g0056 a0004c0016t0001g0070 a0004c0028t0001g0268 a0005c0005t0001g0053 a0005c0005t0001g0078 a0005c0005t0001g0079 a0005c0005t0001g0081 a0005c0005t0001g0082 a0005c0005t0001g0083 a0005c0005t0001g0084 a0005c0005t0001g0089 a0005c0005t0001g0090 a0005c0005t0002g0113 a0005c0005t0003g0111 a0005c0005t0003g0112 a0005c0005t0006g0204 a0005c0005t0009g0198 a0005c0005t0015g0114 a0006c0008t0001g0123 a0006c0008t0001g0186 a0006c0008t0001g0187 a0006c0008t0005g0286 a0006c0008t0005g0289 a0006c0008t0006g0199 a0007c0015t0006g0206 a0007c0015t0007g0205 a0007c0020t0001g0010 a0007c0020t0001g0026 a0009c0009t0001g0014 a0009c0009t0001g0023 a0009c0009t0001g0025 a0009c0009t0027g0024 a0010c0017t0001g0035 a0010c0017t0003g0283 a0010c0017t0003g0284 a0012c0019t0001g0281 a0013c0027t0001g0184 a0014c0026t0006g0203 a0015c0025t0009g0202 a0016c0024t0031g0018 a0017c0022t0017g0282 a0018c0029t0004g0032	140	322	0.4348	210	c.184 others(227): Show c.184+5423_184+5424insTACACCAATCGGCACTCTGTATCTAGCT CAAGGTTTGTAAACACACCAATCAGCACCCTATGTCTAGCTCAAGGTTTG TGAATGCACCAGTCGACACTCTGTATCTAGCTACTCTGGTGGGGACTTGG AGAACCTTTGTGTCCACACTCTGTATCTAGTTAATCTGGTGGGGACGTGG AGAACCTTTATGTCTAGCTCAGGGATTGTAAA	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SHCBP1L_chr1_182894865_182958166	182924788	G G	GAAAGAAA others(203): Show GAAAGAAAGAAAGAGAAAGAAAGAGAGAGAAAGAGAGAGAAAGGAAGGAA GGAAGGAAGGAAGGAGGGAAGAGAGGGGTGGGGGAAGGAGGGAGGAAGGG AGGGAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGGAAAGACAAAGAGAG AGAGAGAAAGAAAGGAAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAA GAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0292 a0001c0003t0001g0292	1	302	0.0033	210	c.118 others(229): Show c.1182+4858_1182+4859insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTCCTTCCTTCCTTCCTTTCCTTTCTTTCTCTCTCTCTCTTTGTCTTTC CCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCT TCCCCCACCCCTCTCTTCCCTCCTTCCTTCCTTCCTTCCTTCCTTTCTCT CTCTTTCTCTCTCTTTCTTTCTCTTTCTTTCTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(203): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCC CTTCCCTTCCC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0200 a0001c0001t0016g0200	1	214	0.0047	210	c.691 others(229): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(203): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCTTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCC CTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	214	0.0047	210	c.691 others(229): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCTTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHROOM2_chrX_9781429_9954443	9791969	G G	GAGAATAG others(203): Show GAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	256	0.0039	210	c.165 others(227): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	401808	G G	GGCCCCGC others(203): Show GGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCT CACACCCGCCCCCGCTCACACCCGCCCCGCTCACACCCCGGCCCCGCTCA CACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACAC CCGACCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	242	0.0041	210	c.40 others(221): Show c.4087_*4088insGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAG CGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGTGTGAGCG GGGCGGGTGTGAGCGGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGC CGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGTGTGAGCGGGGCGGGT GTGAGCGGGGCGGGTGTGAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3907		chr11	TogoVar
SIGIRR_chr11_400716_419999	402043	C C	CCCCGCTC others(203): Show CCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCG CTCACCCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCT CACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACC CCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGA CCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	242	0.0041	210	c.38 others(221): Show c.3852_*3853insTGTGAGCGGGGTCCCGGGTGAGCGGGGCGGGTGT GAGCGGGGCCGGGGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAGC GGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGG CGGGTGTGAGCGGGGCCCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGG GGGTGAGCGGGTCGGGTGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3672		chr11	TogoVar
SIGIRR_chr11_400716_419999	411476	A A	AGGGGGGG others(203): Show AGGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGG TGCCCAGCTCTGACCATGTCTGGATACAGTCGGCGGGGGGTGCCCAGCTC TGACCATGTCTGGATGCAGTCGGGGGGGTGCCCAGCTCTGACCATGTCTG GATACAGTCGGTGGGGGTTGCCCAGCTCTGACCATGTCTGGATACAGTCG GTGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	242	0.0041	210	c.-15 others(229): Show c.-153-1450_-153-1449insCCCCCCCCCACCGACTGTATCCAGAC ATGGTCAGAGCTGGGCAACCCCCACCGACTGTATCCAGACATGGTCAGAG CTGGGCACCCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCC CGCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGACT GCATCCAGACATGGTCAGAGCTGGGCACCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411476	A A	AGGGGGGT others(203): Show AGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGGG TGCCCAGCTCTGACCATGTCTGGATACAGGTCGGCGGGGGGTGCCCAGCT CTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTG GATACAGTCGGTGGGGGTTGCACAGCTCTGACCATGTCTGGATACAGTCG GTGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	242	0.0041	210	c.-15 others(229): Show c.-153-1450_-153-1449insCCCCCCCCCACCGACTGTATCCAGAC ATGGTCAGAGCTGTGCAACCCCCACCGACTGTATCCAGACATGGTCAGAG CTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCC GCCGACCTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCCTCCCCGAC TGCATCCAGACATGGTCAGAGCTGGGCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(203): Show GTATATATATATATATATATATATATATACTCTAAGTATTATATATTATA TACTCCAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATAT ATATATATATTTATACACACATATATATACATACACATATATATATACAC ACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATAT ATATATATATA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	266	0.0038	210	c.240 others(229): Show c.2402+1014_2402+1015insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA TATATATATATATATATATATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(203): Show GTATATATATATATATATATATATATATATATATACTCTAAGTATTATAT ATTATATACTCCAAAACTGTGTGTGTGTGTGTATATATATATATATATAT GTATATATATATATATTTATACACACATATATATACATACACATATATAT ATACACACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGT ATATATATATA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18974.hp2 NA19003.hp2 others(1): Show NA18949.hp2 NA18974.hp2 NA19003.hp2 NA19085.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0079 a0001c0004t0001g0123 a0001c0004t0001g0164 others(1): Show a0001c0004t0001g0079 a0001c0004t0001g0123 a0001c0004t0001g0164 a0001c0004t0001g0190	4	266	0.0150	210	c.240 others(229): Show c.2402+1020_2402+1021insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA TATATATATATATATATATATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC25A41_chr19_6421037_6438763	6429421	A A	AAGGGAGA others(203): Show AAGGGAGAAAGGAGGAGGGAAGGAGGAGGAAGAAAGGAGGGGAGGAGGAG AGGAAAGAGGAGGGGAGGAGGAGGGAGAAAGGAGGAGGGAAGGAGGAGGA AGAAAGGAGGGGAGGAGGAGAGGAAAGAGGAGGGGAGGAGGAGGGAGAAA GGAGGAGGGAAGGAGGAGGAAGAAAGGAGGGGAGGAGGAGAGGAAAGAGG AGGGGAGGAGG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp1 HG03453.hp2 HG02922.hp1 HG03130.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193	3	350	0.0086	210	c.624 others(225): Show c.624+302_624+303insCCTCCTCCCCTCCTCTTTCCTCTCCTCCTC CCCTCCTTTCTTCCTCCTCCTTCCCTCCTCCTTTCTCCCTCCTCCTCCCC TCCTCTTTCCTCTCCTCCTCCCCTCCTTTCTTCCTCCTCCTTCCCTCCTC CTTTCTCCCTCCTCCTCCCCTCCTCTTTCCTCTCCTCCTCCCCTCCTTTC TTCCTCCTCCTTCCCTCCTCCTTTCTCCCT	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC2A8_chr9_127392169_127412898	127409080	T T	TGGGGGAG others(203): Show TGGGGGAGATGATGGGGAGATGATGAGGTGGGGGAGATGATGGGGAGGTA GGGAGAGATGACGGGGAGATGAGGTGGGGGAGACGATGGGGAGGTGGGGG GAGATGATGGGGAGGTGGGGGAGATGATGGGGAGATGATGAGGTGGGGGA GATGATGGGGAGGTAGGGAGAGATGACGGGGAGATGAGGTGGGGGAGATG ATGGGGAGGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	418	0.0024	210	c.18 others(221): Show c.1831_*1832insGGGGGAGATGATGGGGAGATGATGAGGTGGGGGA GATGATGGGGAGGTAGGGAGAGATGACGGGGAGATGAGGTGGGGGAGACG ATGGGGAGGTGGGGGGAGATGATGGGGAGGTGGGGGAGATGATGGGGAGA TGATGAGGTGGGGGAGATGATGGGGAGGTAGGGAGAGATGACGGGGAGAT GAGGTGGGGGAGATGATGGGGAGGTA	SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding		1183		chr9	TogoVar
SLC2A8_chr9_127392169_127412898	127409089	C C	CGATGGGG others(203): Show CGATGGGGAGGTGGGGGGGAGACGATGGGGAGGCGGGGGGAGATGATAGG GAGGTGGGGAAAAAGATGGGGAGGTCGGGGGAGATGATGGGGAGATGGGG GAGATGATGAGGAGGTGGGGGAGACGATGGGGAGGTAGGGGGAGATGATG GGGAGGTGGGGGGGAGACGATGGGGAGGTGGGGGGGAGACGATGGGGAGG TAGGGGGAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA19068.hp1 NA18966.hp1 NA19068.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0007 a0001c0004t0004g0007	2	418	0.0048	210	c.18 others(221): Show c.1840_*1841insGATGGGGAGGTGGGGGGGAGACGATGGGGAGGCG GGGGGAGATGATAGGGAGGTGGGGAAAAAGATGGGGAGGTCGGGGGAGAT GATGGGGAGATGGGGGAGATGATGAGGAGGTGGGGGAGACGATGGGGAGG TAGGGGGAGATGATGGGGAGGTGGGGGGGAGACGATGGGGAGGTGGGGGG GAGACGATGGGGAGGTAGGGGGAGAT	SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding		1192		chr9	TogoVar
SLC35F1_chr6_117902264_118322671	117923702	T T	TATGTACA others(203): Show TATGTACATATGTACATATATACATATGTATATATACATATATGTACATA TGTACATATATGTATATATACATATATACATATGTATATATACATATATG TACATATGTACATATATACATATACATATATGTACATATACACATATACA TATGTATATATACATATATGTACACATGTACATATACATATGTATATATG TACATATGTAC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0086 a0001c0001t0011g0086	1	182	0.0055	210	c.173 others(229): Show c.173+15805_173+15806insGTACATATGTACATATATACATATGT ATATATACATATATGTACATATGTACATATATGTATATATACATATATAC ATATGTATATATACATATATGTACATATGTACATATATACATATACATAT ATGTACATATACACATATACATATGTATATATACATATATGTACACATGT ACATATACATATGTATATATGTACATATGTACAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC45A4_chr8_141202174_141313288	141203522	G G	GAGAGGGA others(203): Show GAGAGGGAGAGAGAGACCGTGGAGAGAGGGAGAGGAGACCGTGGAGAGAG AGAGAGAGAGGGAGAGAGAGAGAGAGAAGTGAGAGAGGAGAGAGAGAGAG GAGAGAGAGGGAGAGAGGGGAGAGAGGAGAGAGGAGGGGAGGGAGAGAGG GAGAGAGCGGAGAGATGCGCGCGTGCGGCCGCTTCTCTAGCGCGTGCGCG TTGCGCGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0052 a0001c0003t0001g0052	1	188	0.0053	210	c.80 others(221): Show c.8049_*8050insTCTCCGCGCAACGCGCACGCGCTAGAGAAGCGGC CGCACGCGCGCATCTCTCCGCTCTCTCCCTCTCTCCCTCCCCTCCTCTCT CCTCTCTCCCCTCTCTCCCTCTCTCTCCTCTCTCTCTCTCCTCTCTCACT TCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCCACGGTCTCCTCTCCC TCTCTCCACGGTCTCTCTCTCCCTCT	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3651		chr8	TogoVar
SLC6A11_chr3_10811228_10945714	10873384	T T	TTTATCCT others(203): Show TTTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATGGCAT GCCATCCTACCCTACCCTATCCTACACTATCCTATCCTATCCTATGCCAT GCCATGCCATCCTATCCTATCCTATCCTATGCTATGCTATCCTATCCTAT CCTATGCTATCCTATCCTATCCTATCCTATCCTATGCCATGCCATGCCAT GCCATCCTATC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02723.hp1 HG02922.hp1 others(5): Show HG02280.hp1 HG02723.hp1 HG02922.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0018 a0001c0002t0002 a0001c0002t0018	a0001c0002t0002g0009 a0001c0002t0002g0033 a0001c0002t0002g0238 others(5): Show a0001c0002t0002g0009 a0001c0002t0002g0033 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0018g0016	8	362	0.0221	210	c.757 others(227): Show c.757-1577_757-1576insTTATCCTATCCTATCCTATCCTATCCTA TCCTATCCTATCCTATGGCATGCCATCCTACCCTACCCTATCCTACACTA TCCTATCCTATCCTATGCCATGCCATGCCATCCTATCCTATCCTATCCTA TGCTATGCTATCCTATCCTATCCTATGCTATCCTATCCTATCCTATCCTA TCCTATGCCATGCCATGCCATGCCATCCTATC	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13			chr3	TogoVar
SLC6A11_chr3_10811228_10945714	10873409	C C	CCTATCCT others(203): Show CCTATCCTTTCCTATCCTATCCTATCCTATGGCATGCCATCCTACCCTAC CCTATCCTACACTATCCTATCCTATCCTATGCCATGCCATGCCATCCTAT CCTATCCTATCCTATGCTATGCTATCCTATCCTATCCTATGCTATCCTAT CCTATCCTATCCTATCCTATGCCATGCCATGCCATGCCATCCTATCCTAT CCTATCCTATG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02976.hp1 others(1): Show HG01884.hp1 HG02109.hp1 HG02976.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0007 a0001c0001t0007 a0001c0003t0007	a0001c0001t0007g0114 a0001c0001t0007g0191 a0001c0001t0007g0192 others(1): Show a0001c0001t0007g0114 a0001c0001t0007g0191 a0001c0001t0007g0192 a0001c0003t0007g0251	4	362	0.0111	210	c.757 others(227): Show c.757-1545_757-1544insTTCCTATCCTATCCTATCCTATGGCATG CCATCCTACCCTACCCTATCCTACACTATCCTATCCTATCCTATGCCATG CCATGCCATCCTATCCTATCCTATCCTATGCTATGCTATCCTATCCTATC CTATGCTATCCTATCCTATCCTATCCTATCCTATGCCATGCCATGCCATG CCATCCTATCCTATCCTATCCTATGCTATCCT	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC7A10_chr19_33203664_33230850	33218682	T T	TTTCTTTC others(203): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTC TTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	410	0.0024	210	c.152 others(227): Show c.152-2710_152-2709insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAG AGAGAAAGAGAGAAAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A10_chr19_33203664_33230850	33218682	T T	TTTCTTTC others(203): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTT TCTCTCTCTTCTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	410	0.0024	210	c.152 others(227): Show c.152-2710_152-2709insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAGAGAAAGAGAGAAAGAGAGAGAAGAGAGAGAAAGAGAGAAAGAGAGAA AGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC8A1_chr2_40092270_40457090	40200241	T T	TATATATA others(203): Show TATATATATATATTTATATATATATATAAATATATATATATTTATATATA TATATAAATATATATATATTTATATATATATATAAATATATATATATTTA TATATATATATAAATATATATATATTTATATATATATATAAATATATATA TATTTATATATATATAAATATATATATATATTTATATATATAAATATATT TATATATATAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0188 a0001c0001t0188	a0001c0001t0188g0057 a0001c0001t0188g0057	1	236	0.0042	210	c.180 others(231): Show c.1809-21749_1809-21748insTTATATATATAAATATATTTATAT ATATAAATATATATATATATTTATATATATATAAATATATATATATTTAT ATATATATATAAATATATATATATTTATATATATATATAAATATATATAT ATTTATATATATATATAAATATATATATATTTATATATATATATAAATAT ATATATATTTATATATATATATAAATATATATATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC9A3_chr5_465456_529449	495377	G G	GCTCCCCG others(203): Show GCTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCACCATC ACCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCAACCCTCCCCAC GCTCCACTCCCCACGCCATCGCCGACCCTCCCCACGCTCCACTCCCCACG CCATCGCCGACCCTCCCCACGCTCCACTCCCCACGCCATCGCCGACCCTC CCCACGCTCCA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0007 a0001c0027t0007	a0001c0027t0007g0136 a0001c0027t0007g0136	1	218	0.0046	210	c.212 others(227): Show c.212-3307_212-3306insTGGAGCGTGGGGAGGGTCGGCGATGGCG TGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGTGGGGAGTGGAGCGT GGGGAGGGTCGGCGATGGCGTGGGGAGTGGAGCGTGGGGAGGGTTGGCGA TGGCGCGGGGAGTGGAGCGTGGGGAGGGTCGGTGATGGTGCGGGGAGTGG AGCGTGGGGAGGGTCGGCGATGGCGCGGGGAG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLMAP_chr3_57751309_57935003	57794196	T T	TAGTGTGC others(203): Show TAGTGTGCATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	310	0.0032	210	c.198 others(229): Show c.198+36359_198+36360insTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGTCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGAGTGTGCATTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SNTG2_chr2_945849_1372613	1222457	A A	AGCTGGAG others(203): Show AGCTGGAGGTGCTGGACCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGTG CGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAA AGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGT GCTGGACCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTG TCCTGCCTGCT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	190	0.0053	210	c.719 others(229): Show c.719+13242_719+13243insCCGCTGTAGAGGAAAGTGGTGCAGTG ATGGAGTGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGACCGCTG TAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGACCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222457	A A	AGCTGGAG others(203): Show AGCTGGAGGTGCTGGATCGCTGTAGAGGAAGGCAGTGCAGTGATGGAGTG CGTCTCCCTGTCCTGCCTGCTGCTGGAGGGGCTGGATCGCTGTAGAGGAA AGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGT GCTGGATCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTG TCCTGCCTGCT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0080 a0003c0007t0001g0080	1	190	0.0053	210	c.719 others(229): Show c.719+13256_719+13257insGGCAGTGCAGTGATGGAGTGCGTCTC CCTGTCCTGCCTGCTGCTGGAGGGGCTGGATCGCTGTAGAGGAAAGTGGT GCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGA TCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGC CTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222487	A A	AGCGGCGC others(203): Show AGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGT GCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTG TCCTGCCTGCTGGTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAG TGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGC TGTAGAGGAAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0001 a0018c0023t0001	a0018c0023t0001g0048 a0018c0023t0001g0048	1	190	0.0053	210	c.719 others(229): Show c.719+13258_719+13259insCGGCGCAGTGATGGAGGGCGTCTCCC TGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGC AGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGTGGAGGTGCTGGATC GCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCT GCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAGG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222489	T T	TGGTGCAG others(203): Show TGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGTGGAGGTGC TGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAAAGCGGCGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	190	0.0053	210	c.719 others(229): Show c.719+13298_719+13299insGTGGAGGTGCTGGATCGCTGTAGAGG AAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAG GTGCTGGACCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCC TGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGTGC AGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222599	C C	CTGGAGGT others(203): Show CTGGAGGTGCTGGATCGCTGTAGAGGAAGGCGGTGCAGTGATGGAGTGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAC TGGTGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGG	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18963.hp1 NA20905.hp2 HG01106.hp2 NA18963.hp1 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0001 a0002c0005t0001 a0002c0003t0001 a0002c0005t0001	a0002c0003t0001g0148 a0002c0003t0001g0161 a0002c0005t0001g0114 a0002c0003t0001g0148 a0002c0003t0001g0161 a0002c0005t0001g0114	3	190	0.0158	210	c.719 others(229): Show c.719+13396_719+13397insGGCGGTGCAGTGATGGAGTGCGTCTC CCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACTGGT GCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGA TCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGC CTGCTGGTGGAGGTGCTGGATCGCTGTAGAGGAA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222639	A A	ATGGAGGG others(203): Show ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGTGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAAAG CGGCGCAGTGG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0044 a0003c0008t0001g0044	1	190	0.0053	210	c.719 others(229): Show c.719+13438_719+13439insCTGGAGGTGCTGGATCGCTGTAGAGG AAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAG GTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGTGCGTCTCCC TGTCCTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAAAGCGGCGC AGTGGTGGAGGGCGTCTCCCTGTCCTGCCTGCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222647	C C	CGTCTCCC others(203): Show CGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAA AGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGT GCTGGATCGCTGTAGAGGAAGGCGGTGCAGTGATGGAGTGCGTCTCCCTG TCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACTGGTGCAG TGATGGAGGGT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0175 a0002c0003t0001g0175	1	190	0.0053	210	c.719 others(229): Show c.719+13438_719+13439insCTGGAGGTGCTGGATCGCTGTAGAGG AAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAG GTGCTGGATCGCTGTAGAGGAAGGCGGTGCAGTGATGGAGTGCGTCTCCC TGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACTGGTGC AGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(203): Show ATATATATATAAATATATATATATTTATATATATAAATATATATATATAA ATATATATATATTTATATATATAAATATATATATATAAATATATATATAT TTATATATATAAATATATATATATTTATATATATAAATATATATATATAA ATATATATATATTTATATATATAAATATATATATATTTATATATATAAAT ATATATATATT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0197 a0001c0002t0001g0197	1	382	0.0026	210	c.159 others(227): Show c.1597-364_1597-363insAATATATATATATTTATATATATAAATA TATATATATAAATATATATATATTTATATATATAAATATATATATATAAA TATATATATATTTATATATATAAATATATATATATTTATATATATAAATA TATATATATAAATATATATATATTTATATATATAAATATATATATATTTA TATATATAAATATATATATATTTATATATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATC1L_chr21_46156160_46189459	46161025	G G	GTGGAGGG others(203): Show GTGGAGGGGGAAGGGGGAGGGGGAAGGGGGGAGGGGGGAGGGGGAGGGGG AAGGGGGGAGGGGGAAGGGGAGGGGGGAGGGGGGAGGGGGAAGGGGAGGG GGAAGGGGGAGAGGGGAGGGGGAGGGGGGACGGGGGGAGGGGGAGGGGGA GGGGGAGGGGGGAGCGGGAACGGGGGAGGGGAGAGGGGGAGGGGGAGGGG GAGAGGGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 NA20129.hp2 HG01891.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0029 a0001c0001t0008 a0001c0001t0029	a0001c0001t0008g0198 a0001c0001t0029g0178 a0001c0001t0008g0198 a0001c0001t0029g0178	2	251	0.0080	210	c.35 others(219): Show c.353_*354insGCTTCCCTCTCCCCCTCCCCCTCCCCCTCTCCCCTC CCCCGTTCCCGCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCGTCCCC CCTCCCCCTCCCCTCTCCCCCTTCCCCCTCCCCTTCCCCCTCCCCCCTCC CCCCTCCCCTTCCCCCTCCCCCCTTCCCCCTCCCCCTCCCCCCTCCCCCC TTCCCCCTCCCCCTTCCCCCTCCA	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		134		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161025	G G	GTGGAGGG others(203): Show GTGGAGGGGGAAGGGGGAGGGGGAAGGGGGGAGGGGGGAGGGGGAGGGGG GAAGGGGGGAGGGGGAAGGGGAGGGGGGAGGGGGGAGGGGGAAGGGGAGG GGGAAGGGGGAGAGGGGAGGGGAGGGGGGACGGGGGGAGGGGAGGGGGAG GGGGAGGGGGGGAGCGGGAACGGGGGAGGGGAGAGGGGGAGGGGGAGGGG GAGAGGGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0021 a0001c0001t0008g0021	1	251	0.0040	210	c.35 others(219): Show c.353_*354insGCTTCCCTCTCCCCCTCCCCCTCCCCCTCTCCCCTC CCCCGTTCCCGCTCCCCCCCTCCCCCTCCCCCTCCCCTCCCCCCGTCCCC CCTCCCCTCCCCTCTCCCCCTTCCCCCTCCCCTTCCCCCTCCCCCCTCCC CCCTCCCCTTCCCCCTCCCCCCTTCCCCCCTCCCCCTCCCCCCTCCCCCC TTCCCCCTCCCCCTTCCCCCTCCA	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		134		chr21	TogoVar
SRXN1_chr20_641615_658200	642167	G G	GGGGGCCC others(203): Show GGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	422	0.0024	210	c.65 others(221): Show c.6546_*6547insAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC AGGCAACCCCACCCCCGCTGGGCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4447		chr20	TogoVar

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Search Results (Total: 10000 hits)