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
PKP3_chr11_389209_409908	402345	C C	CCCACTCA others(199): Show CCCACTCACACCCGGCCCCGCTCACCCCCGCCCCGCTCACCCCCGACCCG CTCACACCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCA CCCCGGACCCCGCTCACCCCCGACCCGCTCACCCCGGCCCCGCTCACCCC AGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACACCCGCC CCGCTCA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01256.hp2 HG01258.hp2 others(2): Show HG00609.hp1 HG01256.hp2 HG01258.hp2 HG02809.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0002t0001g0148 a0001c0002t0001g0175 a0001c0003t0001g0101 others(2): Show a0001c0002t0001g0148 a0001c0002t0001g0175 a0001c0003t0001g0101 a0001c0003t0001g0102 a0001c0004t0001g0069	5	216	0.0232	206	c.173 others(223): Show c.1738-731_1738-730insACTCACACCCGGCCCCGCTCACCCCCGC CCCGCTCACCCCCGACCCGCTCACACCCGGCCCCGCTCACCCCGGCCCCG CTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCGCTCA CCCCGGCCCCGCTCACCCCAGCCCCGCTCACACCCGCCCCGCTCACCCGG GACCCCGCTCACACCCGCCCCGCTCACC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLXNB2_chr22_50269979_50312646	50285743	A A	ACCCCTCC others(199): Show ACCCCTCCCTCCGTACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCC TCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGTACCT GAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGTACCTGAGCCTGCC TGTCACCGGCCGGCACCCCTCCCTCCGTACCTGAGCCTGCCTGTCACCGG CCGGCAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0214 a0001c0006t0001g0214	1	302	0.0033	206	c.208 others(221): Show c.2088+56_2088+57insGTGCCGGCCGGTGACAGGCAGGCTCAGGTA CGGAGGGAGGGGTGCCGGCCGGTGACAGGCAGGCTCAGGTACGGAGGGAG GGGTGCCGGCCGGTGACAGGCAGGCTCAGGTACGGAGGGAGGGGTGCCGG CCGGTGACAGGCAGGCTCAGGTGCGGAGGGAGGGGTGCCGGCCGGTGACA GGCAGGCTCAGGTACGGAGGGAGGGG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	11/36			chr22	TogoVar
PRKCZ_chr1_2045411_2190395	2122989	G G	GTAGTTAG others(199): Show GTAGTTAGGATCATGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCAC GGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTATTT AGGGTCACGGCTGTAGTTAGCGTCATGGTGGTGGTTAGGGTCATGGTGGT AGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTGTAGT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0142 a0001c0003t0001g0142	1	286	0.0035	206	c.335 others(225): Show c.335-12270_335-12269insTTAGGATCATGGCTGTAGTTAGCGTC ATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAG GGTCATGGTGGTAGTTATTTAGGGTCACGGCTGTAGTTAGCGTCATGGTG GTGGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCACGGCTGTAGTTAG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123213	G G	GTAGTTAG others(199): Show GTAGTTAGGATCATGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCAC GGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTATTT AGGGTCACGGCTGTAGTTAGCGTCATGGTGGTGGTTAGGGTCATGGTGGT AGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTGTAGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02080.hp1 HG00558.hp2 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0100 a0001c0002t0001g0096 a0001c0002t0001g0100	2	286	0.0070	206	c.335 others(225): Show c.335-12046_335-12045insTTAGGATCATGGCTGTAGTTAGCGTC ATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAG GGTCATGGTGGTAGTTATTTAGGGTCACGGCTGTAGTTAGCGTCATGGTG GTGGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCACGGCTGTAGTTAG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133822	T T	TCTCTCTC others(199): Show TCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCC CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCC ACCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	227	0.0044	206	c.23 others(217): Show c.2390_*2391insCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCC TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTTCCCTGTCTCCACCTCCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2110		chr19	TogoVar
PTGES_chr9_129733349_129758042	129733403	T T	TGCTGGGA others(199): Show TGCTGGGATTATAGGCTCGCGCCACCACACCTGGCTAATCGTTGTTTTTG TTGTTATTGTTGTTTGTGTTTTTGTTGTTGTTGTTGTTGTTGTTTTGAGA CGGAGTCTCGATCTGTCACCAGGCTGGGGTACAGTGGTGTGATCTTGGCT CATTGCAACCTCCGACTCCAAGGTTCAAGCGATTCCCCTGCCTCAGCCTC CCGAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG02559.hp1 HG02922.hp2 HG01943.hp2 HG02559.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0074 a0001c0001t0015 a0001c0002t0074	a0001c0001t0015g0019 a0001c0002t0074g0311 a0001c0001t0015g0019 a0001c0002t0074g0311	3	426	0.0070	206	c.62 others(217): Show c.6207_*6208insTACTCGGGAGGCTGAGGCAGGGGAATCGCTTGAA CCTTGGAGTCGGAGGTTGCAATGAGCCAAGATCACACCACTGTACCCCAG CCTGGTGACAGATCGAGACTCCGTCTCAAAACAACAACAACAACAACAAC AAAAACACAAACAACAATAACAACAAAAACAACGATTAGCCAGGTGTGGT GGCGCGAGCCTATAATCCCAGC	PTGES	ENSG00000148344.11	transcript	ENST00000340607.5	protein_coding		4945		chr9	TogoVar
PTHLH_chr12_27953084_27977733	27961301	G G	GTATATAT others(199): Show GTATATATATATACGTATATATATATACGTATATATATACGTATATATAT ATACGTATATATATATACGTATATATATATACGTATATATATATACGTAT ATATATATACGTATATATATATACGTATATATATACGTATATATATATAC GTATATATATATACGTATATATATACGTATATATATATACGTATATATAT ATACGTA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	456	0.0022	206	c.524 others(223): Show c.524+2046_524+2047insTACGTATATATATATACGTATATATATA TACGTATATATATACGTATATATATATACGTATATATATATACGTATATA TATACGTATATATATATACGTATATATATATACGTATATATATATACGTA TATATATATACGTATATATATATACGTATATATATATACGTATATATATA CGTATATATATATACGTATATATATATA	PTHLH	ENSG00000087494.16	transcript	ENST00000545234.6	protein_coding	5/5			chr12	TogoVar
PTK6_chr20_63523001_63542376	63535752	A A	ACCTGGCC others(199): Show ACCTGGCCTCCCGCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCT GGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCCACCTGGCCT CCCACCCCGTCCTCACCTGGCCTCCCGCACCCCCCTCACCTGGCCTCCCG CCCCCCCCTCATCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCC CTCCTCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0245 a0001c0002t0003g0245	1	344	0.0029	206	c.231 others(221): Show c.231-694_231-693insAGAGGAGGGGGCGGGAGGCCAGGTGAGGAG GGGGCGGGAGGCCAGATGAGGGGGGGGCGGGAGGCCAGGTGAGGGGGGTG CGGGAGGCCAGGTGAGGACGGGGTGGGAGGCCAGGTGGGGGGGGGCGGGA GGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCC AGGTGAGGGGGGGGCGGGAGGCCAGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(199): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCCCCTCTCCTC CCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCCCC TCCCCCTACCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCCCTCCCTCCT CCCCTCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	94	0.0106	206	c.191 others(227): Show c.191-103924_191-103923insCTCTCCTCTCCTCTCCTCTCCACT CCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCCCCTCT CCTCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTC CCCCTCCCCCTACCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCCCTCCC TCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXDN_chr2_1626887_1749515	1720015	G G	GAGAGAGA others(199): Show GAGAGAGAGAGAGAGAGAGGGAGGGATGCAGAGAGAGAGGGAGGGGAGGG ATGTAGAGAGAGAGAGGGAGGGATGCAGAGAGAGAGGGAGGGGAGGGATG CAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGA GGGATGCAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGA AGAATGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG02717.hp1 others(2): Show HG02257.hp2 HG02486.hp1 HG02717.hp1 HG02922.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0015 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0015 a0001c0002t0003 a0001c0004t0004 a0001c0006t0008	a0001c0001t0001g0313 a0001c0001t0015g0316 a0001c0002t0003g0314 others(2): Show a0001c0001t0001g0313 a0001c0001t0015g0316 a0001c0002t0003g0314 a0001c0004t0004g0311 a0001c0006t0008g0315	5	322	0.0155	206	c.200 others(225): Show c.200+24240_200+24241insGCATTCTTCCCTCCCTCTCTCTCTGC ATCCCTCCCTCCCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCT CTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCCTCCCTCTC TCTCTGCATCCCTCCCTCTCTCTCTCTACATCCCTCCCCTCCCTCTCTCT CTGCATCCCTCCCTCTCTCTCTCTCTCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAB27A_chr15_55197966_55294813	55209869	T T	TATGCGTA others(199): Show TATGCGTATATATACGTATATACACATATATGTGTGTGTATATACGGATA TACACACACATATGTGTGTATATATCCGTATATATACACACATATGTGTG TATATATCCGTATATATACACATATGTGTGTATATACGTATATACACACA TATGTGTGTGTATATACGGATATACACATATATGTGTGTATATATACGTA TATACAC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	320	0.0031	206	c.468 others(223): Show c.468-4165_468-4164insGTGTATATACGTATATATACACACATAT ATGTGTATATCCGTATATACACACACATATGTGTGTATATACGTATATAC ACACATATGTGTATATATACGGATATATACACACATATGTGTGTATATAT ACGGATATATACACACATATGTGTGTGTATATCCGTATATACACACACAT ATATGTGTATATACGTATATATACGCAT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAB3C_chr5_58578075_58864394	58597109	T T	TATATATA others(199): Show TATATATAATACATAATATATATTATATAATATATATAATACATTATATA TATTATATAATATATATAATACATTATATATATTATATAATATATATAAT ACATTATATATATTATATAATATATATAATACATTATATATATATATAAT ATATAATACATTATATTTTATATAATATAGATAATACATTATATATATTA TATAATA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0009 a0001c0001t0016g0009	1	220	0.0046	206	c.24+ others(223): Show c.24+13898_24+13899insTTATATAATATATATAATACATTATATA TATTATATAATATATATAATACATTATATATATTATATAATATATATAAT ACATTATATATATTATATAATATATATAATACATTATATATATATATAAT ATATAATACATTATATTTTATATAATATAGATAATACATTATATATATTA TATAATAATATATAATACATAATATATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(199): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	220	0.0046	206	c.24+ others(223): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(199): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCA TCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTC CCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCA TCCCCCATCCCCCATCCCCCGTCCGCCGTCCCCCATCCCCCGTCCCCATC CCCCACC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18982.hp1 NA19012.hp1 NA18939.hp2 NA18982.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0313 a0001c0001t0003g0040 a0001c0001t0003g0313	3	452	0.0066	206	c.757 others(221): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCC CGTCCCCATCCCCCATCCCCCATCCCCCATCCCCCGTCCGCCGTCCCCCA TCCCCCGTCCCCATCCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBCK1_chr20_403299_437139	420671	C C	CCCATCCC others(199): Show CCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCATCCCCC GTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCCCCCAT CCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCATCCCCC ATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCCAT CCCCCGT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0186 a0001c0001t0003g0186	1	452	0.0022	206	c.757 others(221): Show c.757-198_757-197insATCCCCCGTCCCCATCCCCCATCCCCCGTC CCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCC CGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTC CCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCC TGTCCCCCGTCCCCCATCCCCCGTCC	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RCHY1_chr4_75474033_75519403	75487667	C C	CATATATA others(199): Show CATATATATATTCATAATATATATATTCATATATATATTCATAATATATA TTCATATATATATATTCATAATATATATTCATATATATATTCATAATATA TATTCATATATATATTCATAATATATATTCATATATATATTCATAATATA TATTCATATATATATTCATAATATATATTCATATATATATTCATAATATA TATTCAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18995.hp2 NA18984.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0123 a0001c0001t0003g0086 a0001c0001t0003g0123	2	406	0.0049	206	c.657 others(223): Show c.657+2913_657+2914insATGAATATATATTATGAATATATATATG AATATATATTATGAATATATATATGAATATATATTATGAATATATATATG AATATATATTATGAATATATATATGAATATATATTATGAATATATATATG AATATATATTATGAATATATATATATGAATATATATTATGAATATATATA TGAATATATATATTATGAATATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RIOK2_chr5_97155867_97188247	97179991	A A	ATATATAT others(199): Show ATATATATATAATATATATATATAATATATATATAATATATATAATATAT ATATATTATATATATAGAAAATATATATATAATATATATATATAATATAT ATATAATATATATAATATATATATATAAAATATATATATATAATATATAT ATAATATATATATAATATATATATAATATATATATAATATATATATAATA TATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19030.hp1 HG02572.hp2 NA19030.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0011 a0007c0009t0011	a0007c0009t0011g0233 a0007c0009t0011g0239 a0007c0009t0011g0233 a0007c0009t0011g0239	2	410	0.0049	206	c.67- others(219): Show c.67-799_67-798insATATATATATTATATATATATTATATATATAT TATATATATATTATATATATATTATATATATATTATATATATATATTTTA TATATATATATTATATATATTATATATATATTATATATATATATTATATA TATATTTTCTATATATATAATATATATATATTATATATATTATATATATA TTATATATATATATTATATATATA	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97179991	A A	ATATATAT others(199): Show ATATATATATAATATATATATATTATATATATATAATATATATAATATAT ATATATTATATATATAGAAAATATATATATAATATATATATATAATATAT ATATAATATATATAATATATATATATAAAATATATATATATAATATATAT ATAATATATATATAATATATATATAATATATATATAATATATATATAATA TATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0011 a0007c0009t0011	a0007c0009t0011g0232 a0007c0009t0011g0232	1	410	0.0024	206	c.67- others(219): Show c.67-799_67-798insATATATATATTATATATATATTATATATATAT TATATATATATTATATATATATTATATATATATTATATATATATATTTTA TATATATATATTATATATATTATATATATATTATATATATATATTATATA TATATTTTCTATATATATAATATATATATATTATATATATTATATATATA TAATATATATATATTATATATATA	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(199): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0087 a0001c0002t0006g0087	1	448	0.0022	206	c.48 others(217): Show c.4815_*4816insAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RNASE10_chr14_20500537_20518884	20505258	T T	TCCTCTCC others(199): Show TCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0184 a0001c0001t0088g0184	1	396	0.0025	206	c.-76 others(215): Show c.-767_-766insCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		278		chr14	TogoVar
RNF223_chr1_1065967_1079306	1078351	G G	GGGGTGGC others(199): Show GGGGTGGCTGAGCTATGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGA CTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGGAGGCTGA GGCTATGGGGACTCCGTGGGGGAGGCTGAGGCTATGGGACTCCGTGGGGG GAGGCTGAGGCTATGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	206	c.-43 others(217): Show c.-4346_-4345insGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCA CGGAGTCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCATAGCCTCAGCC TCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCCACGGAGTCCCCAT AGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACG GAGTCCCATAGCTCAGCCACCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4046		chr1	TogoVar
RPS21_chr20_62382103_62393520	62382278	G G	GTGATGGC others(199): Show GTGATGGCGATGATGTGATGATGGTGGTGGTGGTGGTGATGGCGATGGTG ATGATGGTGGTGATGATAGTGATGGCGATGATGTGATGATGGTGGTGGTG ATGATAGTGATGGCGATGATGTGATGGTGGTGGTGATAGTGATGGCGATG ATGTGATGATGGTGGTGGTGGTGATGATAGTGATGGCGATGGTGATGGTG GTGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18998.hp1 NA19011.hp1 NA18940.hp2 NA18998.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	3	412	0.0073	206	c.-48 others(217): Show c.-4877_-4876insTGATGGCGATGATGTGATGATGGTGGTGGTGGTG GTGATGGCGATGGTGATGATGGTGGTGATGATAGTGATGGCGATGATGTG ATGATGGTGGTGGTGATGATAGTGATGGCGATGATGTGATGGTGGTGGTG ATAGTGATGGCGATGATGTGATGATGGTGGTGGTGGTGATGATAGTGATG GCGATGGTGATGGTGGTGGTGA	RPS21	ENSG00000171858.18	transcript	ENST00000343986.9	protein_coding		4824		chr20	TogoVar
RPS21_chr20_62382103_62393520	62382278	G G	GTGATGGC others(199): Show GTGATGGCGATGATGTGGTGATGGTGGTGGTGGTGGTGATGGCGATGGTG ATGATGGTGGTGATGATAGTGATGGCGATGATGTGATGATGGTGGTGGTG ATGATAGTGATGGCGATGATGTGATGGTGGTGGTGATAGTGATGGCGATG ATGTGATGATGGTGGTGGTGGTGATGATAGTGATGGCGATGGTGATGGTG GTGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	2	412	0.0049	206	c.-48 others(217): Show c.-4877_-4876insTGATGGCGATGATGTGGTGATGGTGGTGGTGGTG GTGATGGCGATGGTGATGATGGTGGTGATGATAGTGATGGCGATGATGTG ATGATGGTGGTGGTGATGATAGTGATGGCGATGATGTGATGGTGGTGGTG ATAGTGATGGCGATGATGTGATGATGGTGGTGGTGGTGATGATAGTGATG GCGATGGTGATGGTGGTGGTGA	RPS21	ENSG00000171858.18	transcript	ENST00000343986.9	protein_coding		4824		chr20	TogoVar
RSPH10B_chr7_5921136_5975689	5930763	C C	CGTACACA others(199): Show CGTACACAGCCCACCAAGATGCCTAGCAGCAAAGGTGTACATGTACACAG CCCCCCCAAGATACCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAA GATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAG CAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAGCAGCAAAGG TGAGCAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	70	0.0143	206	c.223 others(225): Show c.2233+2018_2233+2019insATGCTCACCTTTGCTGCTAGGCATCT TGGGGGGCTGTGTACATGCTCACCTTTGCTGCTAGGCATCTTGGGGGGCT GTGTACATGCTCACCTTTGCTGCTAGGCATCTTGGGGGGCTGTGTACATG CTCACCTTTGCTGCTAGGTATCTTGGGGGGGCTGTGTACATGTACACCTT TGCTGCTAGGCATCTTGGTGGGCTGTGTAC	RSPH10B	ENSG00000155026.17	transcript	ENST00000404406.6	protein_coding	19/20			chr7	TogoVar
RTN4R_chr22_20236415_20273318	20268314	G G	GGACTGGC others(199): Show GGACTGGCGGGGCGCTCGCAGCGCGGGCCGCCGGGAGGATGAATGTTTTA TGGGATCAGGTGGTTTGACGCGCGAGGAATCCGCCCGGTTCCCCCGCCGG CCGGGGCGGGGCGGGGGCGGGCCGGGGCGGGGCCTCGCGGCGGGCGGAGC GCTCACCTGGGCGCGGGCGCGGGCGCGGGCCCGGGCGGGGGCGGGGGGGC GCGGGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00408.hp2 HG02129.hp2 HG02155.hp2 others(12): Show HG00408.hp2 HG02129.hp2 HG02155.hp2 NA18945.hp2 NA18963.hp1 NA18973.hp2 NA18984.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19011.hp2 NA19057.hp1 NA19079.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0235 a0001c0001t0002g0236 others(9): Show a0001c0001t0002g0014 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245	15	392	0.0383	206	c.-22 others(215): Show c.-223_-222insGGCCCGCGCCCCCCCGCCCCCGCCCGGGCCCGCGCC CGCGCCCGCGCCCAGGTGAGCGCTCCGCCCGCCGCGAGGCCCCGCCCCGG CCCGCCCCCGCCCCGCCCCGGCCGGCGGGGGAACCGGGCGGATTCCTCGC GCGTCAAACCACCTGATCCCATAAAACATTCATCCTCCCGGCGGCCCGCG CTGCGAGCGCCCCGCCAGTC	RTN4R	ENSG00000040608.14	transcript	ENST00000043402.8	protein_coding	1/2	223		chr22	TogoVar
RTN4R_chr22_20236415_20273318	20268314	G G	GGACTGGC others(199): Show GGACTGGCGGGGCGCTCGCAGCGCGGGCCGCCGGGAGGATGAATGTTTTA TGGGATCAGGTGGTTTGACGCGCGAGGAATCCGCCCGGTTCCCCCGCCGG CCGGGGCGGGGCGGGGGCGGGCCGGGGCGGGGCCTCGCGGCGGGCGGAGC GCTCACCTGGGCGCGGGCGCGGGCGCGGGCCCGGGCGGGGGCTGGGGGGC GCGGGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(356): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0002c0005 a0003c0006 a0004c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0009t0001 a0002c0005t0001 a0003c0006t0001 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(217): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0005g0071 a0001c0001t0005g0072 a0001c0001t0005g0073 a0001c0001t0010g0180 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0162 a0001c0003t0001g0125 a0001c0003t0001g0131 a0001c0004t0001g0192 a0001c0004t0001g0212 a0001c0009t0001g0143 a0002c0005t0001g0080 a0003c0006t0001g0186 a0004c0007t0001g0178	359	392	0.9158	206	c.-22 others(215): Show c.-223_-222insGGCCCGCGCCCCCCAGCCCCCGCCCGGGCCCGCGCC CGCGCCCGCGCCCAGGTGAGCGCTCCGCCCGCCGCGAGGCCCCGCCCCGG CCCGCCCCCGCCCCGCCCCGGCCGGCGGGGGAACCGGGCGGATTCCTCGC GCGTCAAACCACCTGATCCCATAAAACATTCATCCTCCCGGCGGCCCGCG CTGCGAGCGCCCCGCCAGTC	RTN4R	ENSG00000040608.14	transcript	ENST00000043402.8	protein_coding	1/2	223		chr22	TogoVar
RTN4R_chr22_20236415_20273318	20268314	G G	GGACTGGC others(199): Show GGACTGGCGGGGCGCTCGCAGCGCGGGCCGCCGGGAGGATGAATGTTTTA TGGGATCAGGTGGTTTGACGCGCGAGGAATCCGCCCGGTTCCCCCGCCGG CCGGGGCGGGGCGGGGGCGGGCCGGGGCGGGGCCTCGCGGCGGGCGGAGC GCTCACCTGGGCGCGGGCGCGGGCGCGGGCCCGGGCGGGGGCTTGGGGGC GCGGGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03041.hp1 NA18944.hp1 HG03041.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0006g0064 a0001c0001t0006g0065	2	392	0.0051	206	c.-22 others(215): Show c.-223_-222insGGCCCGCGCCCCCAAGCCCCCGCCCGGGCCCGCGCC CGCGCCCGCGCCCAGGTGAGCGCTCCGCCCGCCGCGAGGCCCCGCCCCGG CCCGCCCCCGCCCCGCCCCGGCCGGCGGGGGAACCGGGCGGATTCCTCGC GCGTCAAACCACCTGATCCCATAAAACATTCATCCTCCCGGCGGCCCGCG CTGCGAGCGCCCCGCCAGTC	RTN4R	ENSG00000040608.14	transcript	ENST00000043402.8	protein_coding	1/2	223		chr22	TogoVar
RTN4R_chr22_20236415_20273318	20268314	G G	GGACTGGC others(199): Show GGACTGGCGGGGCGCTCGCAGCGCGGGCCGCCGGGAGGATGAATGTTTTA TGGGATCAGGTGGTTTGACGCGCGAGGAATCCGCCCGGTTCCCCCGCCGG CCGGGGCGGGGCGGGGGCGGGCCGGGGCGGGGCCTCGCGGCGGGCGGAGC GCTCACCTGGGCGCGGGCGCGGGCGCGGGCCCGGGCGGGGGGTGGGGGGC GCGGGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02622.hp1 HG03209.hp2 others(2): Show HG01891.hp1 HG02622.hp1 HG03209.hp2 HG03453.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0066 a0001c0001t0004g0067 others(1): Show a0001c0001t0004g0030 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068	5	392	0.0128	206	c.-22 others(215): Show c.-223_-222insGGCCCGCGCCCCCCACCCCCCGCCCGGGCCCGCGCC CGCGCCCGCGCCCAGGTGAGCGCTCCGCCCGCCGCGAGGCCCCGCCCCGG CCCGCCCCCGCCCCGCCCCGGCCGGCGGGGGAACCGGGCGGATTCCTCGC GCGTCAAACCACCTGATCCCATAAAACATTCATCCTCCCGGCGGCCCGCG CTGCGAGCGCCCCGCCAGTC	RTN4R	ENSG00000040608.14	transcript	ENST00000043402.8	protein_coding	1/2	223		chr22	TogoVar
RUFY1_chr5_179545554_179615012	179550536	C C	CCGCCCGC others(199): Show CCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGC CCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCCCACCC CGCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCCCACC CCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCC CACCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0160 a0001c0002t0002g0160	1	376	0.0027	206	c.-34 others(213): Show c.-34_-33insCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCG CGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCC CGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGC CCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGC CCGCCCGCCCCCACCCCG	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		17		chr5	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(199): Show CACATGGGCCCCGATTTCTCCGCACACTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCATCCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCATCCTCACCCCAACGGCACACATGGGCCCCCGATTTCTCCGCACA CTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCA ACGGCAT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0167 a0001c0003t0002g0167	1	356	0.0028	206	c.127 others(225): Show c.127-22318_127-22317insATGCCGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGG CCCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGT GCCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGG GTGAGTGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCFD2_chr4_52867982_53371061	53207619	G G	GACCCAAA others(199): Show GACCCAAACCATATTAGACTTTTCATTTAGAACATTATATATATATAAAT TGTATATATATATAAATTGTATATATAATATATATATAAATTGTATATAT ATATAAATTGTATATATAATATATATATAAATTATATATATATATACAAT TTATATATATATAATGTTCTAAATGAAAAGTCTAATATGGTTTGGGTCTG TATCACC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00558.hp1 others(30): Show HG00140.hp1 HG00408.hp2 HG00558.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01884.hp2 HG02145.hp2 HG02155.hp2 HG02280.hp1 HG02602.hp2 HG02622.hp1 HG02809.hp1 HG02922.hp1 HG03130.hp1 HG03195.hp1 HG03704.hp2 HG03834.hp1 NA18612.hp2 NA18747.hp2 NA18945.hp2 NA18973.hp1 NA18978.hp1 NA18998.hp1 NA19007.hp1 NA19088.hp2 NA19091.hp1 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0001c0003t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0008 a0002c0006t0001 a0002c0006t0003 a0005c0010t0001	a0001c0001t0001g0101 a0001c0001t0001g0125 a0001c0001t0001g0130 others(30): Show a0001c0001t0001g0101 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0002g0088 a0001c0001t0002g0124 a0001c0001t0002g0129 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0003t0003g0132 a0001c0003t0005g0080 a0001c0003t0005g0126 a0001c0003t0005g0128 a0002c0002t0001g0005 a0002c0002t0001g0082 a0002c0002t0001g0085 a0002c0002t0001g0092 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0002g0093 a0002c0002t0004g0006 a0002c0002t0008g0097 a0002c0006t0001g0098 a0002c0006t0003g0015 a0002c0006t0003g0083 a0002c0006t0003g0084 a0005c0010t0001g0002	33	162	0.2037	206	c.131 others(227): Show c.1312-62038_1312-62037insGGTGATACAGACCCAAACCATATT AGACTTTTCATTTAGAACATTATATATATATAAATTGTATATATATATAT AATTTATATATATATTATATATACAATTTATATATATATACAATTTATAT ATATATTATATATACAATTTATATATATATACAATTTATATATATATAAT GTTCTAAATGAAAAGTCTAATATGGTTTGGGT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCHIP1_chr3_159268244_159902359	159680706	T T	TATATATA others(199): Show TATATATAATATATGTATATATAATATACATATATTATATATGTATATAT ATACATATATAATATATGTGTATATATATAATATACATATATTATATATG TATATATATACATATATAATATATGTATATTATATATATACATATAATAT ACATATATTATATGTATATATATACATATATAATATATGTATATTATATA TATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18522.hp1 HG01884.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0077 a0001c0001t0001g0037 a0001c0001t0001g0077	2	100	0.0200	206	c.64- others(223): Show c.64-83715_64-83714insATATACATATATTATATATGTATATATA TACATATATAATATATGTGTATATATATAATATACATATATTATATATGT ATATATATACATATATAATATATGTATATTATATATATACATATAATATA CATATATTATATGTATATATATACATATATAATATATGTATATTATATAT ATATACATATATAATATATGTATATATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(199): Show TTGGGTGAGGGGGGTGGGGTCGGGGGGGGGTTGAGTGAGGGGGGTGGGGG GTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGTTGGGTGAGGGGGGTG GGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGTTGGGTGAGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTG AGGGGGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0004 a0008c0007t0004	a0008c0007t0004g0286 a0008c0007t0004g0286	1	290	0.0035	206	c.464 others(219): Show c.464+91_464+92insTGAGGGGGGTGGGGTCGGGGGGGGGTTGAGTG AGGGGGGTGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGTTG GGTGAGGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGTTGGGT GAGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGTTGGGTGAGGGGGGTG GGGGGGTTGGGTGAGGGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288993	T T	TCCGTCCC others(199): Show TCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0211 a0001c0009t0001g0211	1	290	0.0035	206	c.166 others(223): Show c.1662+963_1662+964insCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289035	C C	CCGTGTCT others(199): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	290	0.0035	206	c.166 others(224): Show c.1662+999_1662+1000insGTGTCTCTGCTCCGTCCCCCGTGTCTC TGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGAGTCTCTGCTCCGTCCCG TGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTC TGCCCCGTCCCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289263	C C	CCGTGTCT others(199): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	290	0.0035	206	c.166 others(225): Show c.1663-1007_1663-1006insGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289366	T T	TCTGCTCC others(199): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCT CCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0054 a0002c0003t0001g0054	1	290	0.0035	206	c.166 others(223): Show c.1663-855_1663-854insCCGTGTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290128	C C	CCCCGAGT others(199): Show CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	290	0.0035	206	c.166 others(223): Show c.1663-139_1663-138insAGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC CCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3527922	G G	GGGGGTGA others(199): Show GGGGGTGAATGGTAGGAGGTAAAGTTGGATGATAGCTAGCGGGTGAGTGG TGGGAGGTGAGGCTGGGTGTCAGTTAGCTAGGGGTTGAGTGGTGGGAAGT AATGTTGGATGATAGTCAGCTAGGGGTTGAGTGGTGGGAGGTGAGGTTGG ATCATAGCCAGCTAGGGGGTGAAGGGTAGGAGGTAAGGTTGGATCATAGC CAGCTAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0019 a0019	a0019c0051 a0019c0051	a0019c0051t0062 a0019c0051t0062	a0019c0051t0062g0019 a0019c0051t0062g0019	1	116	0.0086	206	c.299 others(225): Show c.299-91136_299-90931dupAGTTGGATGATAGCTAGCGGGTGAGT GGTGGGAGGTGAGGCTGGGTGTCAGTTAGCTAGGGGTTGAGTGGTGGGAA GTAATGTTGGATGATAGTCAGCTAGGGGTTGAGTGGTGGGAGGTGAGGTT GGATCATAGCCAGCTAGGGGGTGAAGGGTAGGAGGTAAGGTTGGATCATA GCCAGCTACGGGGTGAATGGTAGGAGGTAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80863884	T T	TACATATG others(199): Show TACATATGTATCACATACATATGTATCACATACATATGTATCACATACAT ATGTATCACATACATATGTATCACATACATATGTATCACATACATATGTA TCACATACATATGTATCACATACATATGTATCACATACATATGTATCACA TACATATGTATCACATACATATGTATCACATACATATGTATCACATACAT ATCACAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	244	0.0041	206	c.104 others(225): Show c.104-35140_104-35139insGTGTGATATGTATGTGATACATATGT ATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTG ATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACA TATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGT ATGTGATACATATGTATGTGATACATATGT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80863884	T T	TATATATG others(199): Show TATATATGTATCACATATATATGTATCACATATATATGTATCACATATAT ATGTATCACATATATATGTATCACATATATATGTATCACATATATATGTA TCACATATATATGTATCACATATATATGTATCACATATATATGTATCACA TATATATGTATCACATATATATGTATCACATATATATGTATCACATATAT ATCACAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	244	0.0041	206	c.104 others(225): Show c.104-35140_104-35139insGTGTGATATATATGTGATACATATAT ATGTGATACATATATATGTGATACATATATATGTGATACATATATATGTG ATACATATATATGTGATACATATATATGTGATACATATATATGTGATACA TATATATGTGATACATATATATGTGATACATATATATGTGATACATATAT ATGTGATACATATATATGTGATACATATAT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(199): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGAGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19055.hp1 HG00438.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0048 a0001c0001t0008g0272 a0001c0001t0001g0048 a0001c0001t0008g0272	2	370	0.0054	206	c.-30 others(225): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCTCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(199): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01109.hp2 others(22): Show HG00280.hp1 HG00639.hp1 HG01109.hp2 HG01928.hp2 HG02015.hp2 HG02040.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02615.hp1 HG03834.hp2 NA18942.hp1 NA18952.hp1 NA18952.hp2 NA18983.hp2 NA18984.hp1 NA18995.hp2 NA19010.hp1 NA19011.hp2 NA19057.hp1 NA19066.hp2 NA19079.hp1 NA20752.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0002c0002 a0005c0008	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 others(8): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0001c0003t0042 a0001c0004t0049 a0001c0007t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0014 a0005c0008t0001	a0001c0001t0001g0151 a0001c0001t0001g0209 a0001c0001t0001g0222 others(22): Show a0001c0001t0001g0151 a0001c0001t0001g0209 a0001c0001t0001g0222 a0001c0001t0010g0165 a0001c0001t0012g0308 a0001c0001t0012g0335 a0001c0003t0042g0334 a0001c0004t0049g0370 a0001c0007t0001g0169 a0002c0002t0001g0058 a0002c0002t0001g0138 a0002c0002t0002g0299 a0002c0002t0002g0302 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0320 a0002c0002t0002g0333 a0002c0002t0002g0345 a0002c0002t0002g0360 a0002c0002t0002g0361 a0002c0002t0002g0364 a0002c0002t0002g0366 a0002c0002t0003g0219 a0002c0002t0014g0332 a0005c0008t0001g0225	25	370	0.0676	206	c.-30 others(225): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(199): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGT GAGGGGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	370	0.0027	206	c.-30 others(225): Show c.-309-7002_-309-7001insTCCCCTCACTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(199): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGTGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0287 a0001c0003t0002g0287	1	370	0.0027	206	c.-30 others(225): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCACTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(199): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGATCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01943.hp2 HG01981.hp2 others(2): Show HG01106.hp2 HG01943.hp2 HG01981.hp2 NA18964.hp2 NA18989.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0002c0002t0009 a0001c0001t0002 a0002c0002t0002 a0002c0002t0009	a0001c0001t0002g0350 a0002c0002t0002g0327 a0002c0002t0009g0303 others(2): Show a0001c0001t0002g0350 a0002c0002t0002g0327 a0002c0002t0009g0303 a0002c0002t0009g0306 a0002c0002t0009g0328	5	370	0.0135	206	c.-30 others(225): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGATCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEPTIN7_chr7_35796057_35912110	35814055	T T	TAAAAGTT others(199): Show TAAAAGTTGGAGAGTATTATACAAAAAATTAGCCGGGCGCGGTGGCGGGC GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCA GTCCGACCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0207 a0001c0001t0005g0207	1	346	0.0029	206	c.61+ others(223): Show c.61+12802_61+12803insATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGACCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAGTTGGAGAGTATT	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERINC2_chr1_31408213_31439678	31431904	T T	TAGGGTGG others(199): Show TAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGATGGTTAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAG AGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAG GGTGGAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0137 a0001c0001t0004g0137	1	376	0.0027	206	c.101 others(225): Show c.1014-1047_1014-1046insATAGGATGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAG GGTGGAGAGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGG TGGATAGGGTGGACAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(199): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTC CCTTCCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0042 a0001c0001t0006g0042	1	214	0.0047	206	c.691 others(225): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCTTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SIGIRR_chr11_400716_419999	401948	G G	GCCCCGCT others(199): Show GCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCA CCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGACCCGCTCACCC CCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGC CCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	242	0.0041	206	c.39 others(217): Show c.3947_*3948insGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAG CGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGG TCCGGTGTGAGCGGGGTCCGGGGTGAGCGGGTCGGGGGTGAGCGGGGCTG GGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTG AGCGGGTCGGGTGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3767		chr11	TogoVar

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Search Results (Total: 10000 hits)