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
GPR35_chr2_240620480_240638159	240623341	G G	GTGAGGGC others(202): Show GTGAGGGCGCAAACAGGTCGTGAGGGTGCAAACAGGTCGTGAGGGTGCAA ACAGGTCATGAGGGCGCAAACAGGTCGTGAGGGTGCAAACAGGTCGTGAG GGCGCAAACAGGTCGTGAGGGTGCAAACAGGTCGTGAGGGCGCAAACAGG TCGTGAGGGCGCAAACAGGTCGTGAGGGTGCAAACAGGTCGTGAGGGTGC AAACAGGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0025 a0003c0003t0001g0025	1	400	0.0025	209	c.-22 others(220): Show c.-2232_-2231insTGAGGGCGCAAACAGGTCGTGAGGGTGCAAACAG GTCGTGAGGGTGCAAACAGGTCATGAGGGCGCAAACAGGTCGTGAGGGTG CAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGTGCAAACAGGTCGT GAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGTGCAAAC AGGTCGTGAGGGTGCAAACAGGTCA	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding		2138		chr2	TogoVar
GPR35_chr2_240620480_240638159	240623433	G G	GTCGTGAG others(202): Show GTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCG CAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGT GAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGTGCAAAC AGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGG CGCAAACAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0201 a0002c0002t0004g0201	1	400	0.0025	209	c.-21 others(220): Show c.-2140_-2139insTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAA CAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGG GCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGT CGTGAGGGTGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCA AACAGGTCGTGAGGGCGCAAACAGA	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding		2046		chr2	TogoVar
GPSM1_chr9_136322539_136364601	136355026	A A	AGTGACAC others(202): Show AGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGTGACACG TCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGG GAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGGTA GCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTG CCGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0341 a0002c0004t0001g0341	1	400	0.0025	209	c.145 others(226): Show c.1456-622_1456-621insTGACACGTCCTGGGGGAGGGGTAGCCGG GTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAG GGTGGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTG ACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCC TGGGGGAGGGGTAGCCGGGTGCCGAGGGTGG	GPSM1	ENSG00000160360.13	transcript	ENST00000440944.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(202): Show CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCC TCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCC TCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0286 a0001c0001t0035g0286	1	290	0.0035	209	c.427 others(226): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCT CCTCCCCCTCCTCCTCCCCCCTCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(202): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCC TCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCC CCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCC CCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0004 a0002c0018t0004	a0002c0018t0004g0006 a0002c0018t0004g0006	1	290	0.0035	209	c.427 others(226): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCC CCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCT CCTCCCCCCTCCTCCTCCTCCCCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GSE1_chr16_85608322_85681200	85653223	T T	TCCTCCCC others(202): Show TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCT CCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCT CCTCCTCCCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0013 a0006c0011t0013	a0006c0011t0013g0270 a0006c0011t0013g0270	1	290	0.0035	209	c.427 others(226): Show c.427-1050_427-1049insCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCT CCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCC CCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCT CCCCCCTCCTCCTCCTCCTCCTCCCCCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
INPP5E_chr9_136423619_136444845	136431557	C C	CCCCCCAG others(202): Show CCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAG GCCCTCACCTCTCCTCATCTCCCGCCACGCCCCGCCCCCCCAGGCCCTCA CCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCT CATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCC TCCACGCCCG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	382	0.0026	209	c.154 others(226): Show c.1549+266_1549+267insCGGGCGTGGAGGGAGATGAGGAGAGGTG AGGGCCTGGGGGGGCGGGCGTGGAGGGAGATGAGGAGAGGTGAGGGCCTG GGGGGGCGGGCGTGGAGGGAGATGAGGAAAGGTGAGGGCCTGGGGGGGCG GGGCGTGGCGGGAGATGAGGAGAGGTGAGGGCCTGGGGGGGCGGGCGTGG AGGGAGATGAGGAAAGGTGAGGGCCTGGGGG	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
IPO11_chr5_62407763_62633582	62598425	T T	TTCTTTCT others(202): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	330	0.0030	209	c.267 others(228): Show c.2679-3338_2679-3337insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(202): Show TAAGAAAAGAAAAGAAAGAAAAGAAACGAAACGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0160 a0002c0003t0001g0160	1	308	0.0033	209	c.127 others(228): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCGTTTCGTTTCTTTTCTTTCTTTTCTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(202): Show AATATATATATCATATATATATGAAATATATATATGATATATATATGAAA TATATATATCATATATATATGAAATATATATATGATATATGAAATATATA TATGATATATGAAATATATATATGATATATGAAATATATATATGATATAT GAAATATATATATGATATATGAAATATATATATGATATATATATGAAATA TATATATGAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	344	0.0029	209	c.25- others(224): Show c.25-1970_25-1969insATCATATATATATGAAATATATATATGATA TATATATGAAATATATATATCATATATATATGAAATATATATATGATATA TGAAATATATATATGATATATGAAATATATATATGATATATGAAATATAT ATATGATATATGAAATATATATATGATATATGAAATATATATATGATATA TATATGAAATATATATATGATATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
ITGB5_chr3_124756948_124892365	124767659	A A	AGACAGGT others(202): Show AGACAGGTCATGTGAGGAACCAGACTGTGGTCCGAAAGAACAAAAAAAAA AAAAAAAGAAAAAAAAAAAAGGAAAAAAAGGAACATAAAAAAAAAGAAAG AAGAAAAAAGACAAGAAAAAGACTGGTCGAAAAAAAAGAAAAAAATAAAG ACCAAGAAAAAAAAAAATAAAAAGACAAAAAAGAAGAAGAAAAAAAAAGA AAAAGAAAAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0067 a0001c0001t0006g0067	1	352	0.0028	209	c.201 others(228): Show c.2018-1315_2018-1314insGTTTTCTTTTTCTTTTTTTTTCTTCT TCTTTTTTGTCTTTTTATTTTTTTTTTTCTTGGTCTTTATTTTTTTCTTT TTTTTCGACCAGTCTTTTTCTTGTCTTTTTTCTTCTTTCTTTTTTTTTAT GTTCCTTTTTTTCCTTTTTTTTTTTTCTTTTTTTTTTTTTTTTGTTCTTT CGGACCACAGTCTGGTTCCTCACATGACCTGTC	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	12/14			chr3	TogoVar
JPH2_chr20_44101590_44192188	44134467	T T	TATAAATA others(202): Show TATAAATATATATTTATTATATATATATAATATATATAATATATATTTAT TAATATATAATAAATATATATTTATAATATATATAAATAAATATATATTT ATAATAAATAAATATAAATATATATTTATTTATATAAATAAATATATATT TATTTATATAAATAAATATATATTTATTATATATAAATAAATATATATTT ATTTATATAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18978.hp2 NA18984.hp2 HG00408.hp1 NA18978.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0009 a0001c0001t0012	a0001c0001t0009g0133 a0001c0001t0009g0134 a0001c0001t0012g0148 a0001c0001t0009g0133 a0001c0001t0009g0134 a0001c0001t0012g0148	3	338	0.0089	209	c.117 others(230): Show c.1170-15845_1170-15844insTTATATAAATAAATATATATTTAT TTATATATAATAAATATATATTTATTTATATAAATAAATATATATTTATT TATATAAATAAATATATATTTATATTTATTTATTATAAATATATATTTAT TTATATATATTATAAATATATATTTATTATATATTAATAAATATATATTA TATATATTATATATATATAATAAATATATATTTAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63445992	A A	ACCCTGTC others(202): Show ACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAG CTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCT GTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGG GGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTG AGCTGGGAGG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02723.hp1 HG01167.hp2 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0017 a0001c0004 a0001c0017	a0001c0004t0004 a0001c0017t0051 a0001c0004t0004 a0001c0017t0051	a0001c0004t0004g0094 a0001c0017t0051g0160 a0001c0004t0004g0094 a0001c0017t0051g0160	2	330	0.0061	209	c.388 others(224): Show c.388-629_388-628insCCTCCCAGCTCAGACAGGGTCCCCCAGCTC AGACAGGGTCCCCCAGCTCAGACAGGGTCCCCCAGCTCAGACAGGGCCTC CCAGCTCAGACAGGGTCCCCCAGCTCAGACAGGGCCTCCCAGCTCAGACA GGGTCCCCCAGCTCAGACAGGGTCCCCCAGCTCAGACAGGGTCCCCCAGC TCAGACAGGGCCTCCCAGCTCAGACAGGG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	2/16			chr20	TogoVar
KIAA0930_chr22_45187244_45245894	45228748	C C	CCAAACAC others(202): Show CCAAACACTCACCCGAGAGATCCCTCTCCACCCCCCAACCACCAAACACT CACCTGAGAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCCGAGA GATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCT CCACCCCCCAACCACCAAACACTCACCCGAGAGATCCCTCTCCACCCCCC AACCACCAAA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0147 a0001c0001t0147	a0001c0001t0147g0043 a0001c0001t0147g0043	1	398	0.0025	209	c.64+ others(226): Show c.64+11891_64+11892insTTTGGTGGTTGGGGGGTGGAGAGGGATC TCTCGGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCTCAGGTG AGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCTCGGGTGAGTGTTTGG TGGTTGGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGG GGTGGAGAGGGATCTCTCGGGTGAGTGTTTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1958_chr9_112481827_112674397	112525973	T T	TTCTTCTC others(202): Show TTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTT CTTCTTCCTC	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	308	0.0033	209	c.-25 others(228): Show c.-25+38861_-25+38862insCCTTCTTCTTCTCCTTCTTCTCCTTC TTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC CTCTTCTTCTTCCTCTTCTTCTTCCTCTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMA5_chr20_62304065_62372312	62313973	C C	CAGAGACG others(202): Show CAGAGACGAGGGGTGGCGAGTGGGCACGGAGAGACGAGGGATGGCGAGTG GGCACAGACGAGGGGTGGCGGGTGGGCACAGAGACGAGGGGTGGCGAGTG GGCACAGAGACGGGTGGCGAGTGGGCACAGAGACGAGGGGTGGCGAGTGG GCACAGAGACGAGGGGTGGCGAGTGGGCACGGAGAGGCGAGGGGTGGCGA GTGGGCATGG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0049 a0049	a0049c0121 a0049c0121	a0049c0121t0006 a0049c0121t0006	a0049c0121t0006g0076 a0049c0121t0006g0076	1	186	0.0054	209	c.850 others(226): Show c.8505-172_8505-171insCCATGCCCACTCGCCACCCCTCGCCTCT CCGTGCCCACTCGCCACCCCTCGTCTCTGTGCCCACTCGCCACCCCTCGT CTCTGTGCCCACTCGCCACCCGTCTCTGTGCCCACTCGCCACCCCTCGTC TCTGTGCCCACCCGCCACCCCTCGTCTGTGCCCACTCGCCATCCCTCGTC TCTCCGTGCCCACTCGCCACCCCTCGTCTCT	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	62/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62360520	T T	TGGGTGGG others(202): Show TGGGTGGGTGGAGGGATAGATGGGGGGGTGGAAGGATAGGTGGGTGGGTG GGTGGAGGGATAGATGGGGGGTTGGGTGGGTGGAGGGATAGATGGGGGGG TGGGTGGGTGGAGGGATAGATGGGTGGTGGGTGGGTGGAGGGATAGATGG GGGGGTGGGTGGGTGGAGGGATAGATGGGTGGAGGGTGGGTGGAGGGATA GATGGGTGGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03017.hp1 HG04115.hp2 HG01081.hp2 HG03017.hp1 HG04115.hp2	a0000 a0007 a0000 a0007	a0000c0034 a0007c0014 a0007c0043 a0000c0034 a0007c0014 a0007c0043	a0000c0034t0001 a0007c0014t0001 a0007c0043t0001 a0000c0034t0001 a0007c0014t0001 a0007c0043t0001	a0000c0034t0001g0175 a0007c0014t0001g0176 a0007c0043t0001g0173 a0000c0034t0001g0175 a0007c0014t0001g0176 a0007c0043t0001g0173	3	186	0.0161	209	c.450 others(226): Show c.450+1879_450+1880insTCCACCCATCTATCCCTCCACCCACCCT CCACCCATCTATCCCTCCACCCACCCACCCCCCCATCTATCCCTCCACCC ACCCACCACCCATCTATCCCTCCACCCACCCACCCCCCCATCTATCCCTC CACCCACCCAACCCCCCATCTATCCCTCCACCCACCCACCCACCTATCCT TCCACCCCCCCATCTATCCCTCCACCCACCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LMF1_chr16_848634_975984	858589	G G	GAGTGGTG others(202): Show GAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGT GGTGTCTCGGGATGGGTGTGCGTGGTGTCACGGGATGGGTGTGCAGTGGT GTCACGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCT CGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCACGGG ATGGGTGTGC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01243.hp1 HG03195.hp1 HG00733.hp1 HG01243.hp1 HG03195.hp1	a0007 a0014 a0007 a0014	a0007c0028 a0014c0040 a0007c0028 a0014c0040	a0007c0028t0004 a0014c0040t0004 a0007c0028t0004 a0014c0040t0004	a0007c0028t0004g0017 a0007c0028t0004g0265 a0014c0040t0004g0270 a0007c0028t0004g0017 a0007c0028t0004g0265 a0014c0040t0004g0270	3	294	0.0102	209	c.153 others(228): Show c.1530-3884_1530-3883insGCACACCCATCCCGTGACACCACGCA CACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACC CATCCCGAGACACCACGCACACCCATCCCGTGACACCACTGCACACCCAT CCCGTGACACCACGCACACCCATCCCGAGACACCACTCACACCCATCCCG AGACACCACTCACACCCATCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859762	G G	GGTGTGAG others(202): Show GGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGTTG TGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGCATGGGTGTGC AGTGGTGTCTCGGCATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGT CACGGGATGC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	294	0.0034	209	c.153 others(228): Show c.1530-5057_1530-5056insGCATCCCGTGACACCACTCACACCCA TCCCGTGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCC GAGACACCACTCACACCCATGCCGAGACACCACTGCACACCCATGCCGAG ACACCACTCACACCCATCCCGAGACACCACTGCACAACCATCCCGAGACA CCACTCACACCCATCCCGTGACACCACTCACAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTAACTT others(202): Show ACTAACTTTCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCT TTCTTTCCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	436	0.0023	209	c.40 others(220): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAA GAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAG GAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAG GAAAGAAAGAAAGAAAGAAAGTTAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
MAP2K2_chr19_4085321_4129122	4122247	G G	GACCCTCC others(202): Show GACCCTCCCACCCCATCTCTCCCCACAGGGACCCCCTCACCCCATCTCTC CCCCACAGGGACCCCCTCACCCCATCTCTCCCCCATAGGGACCCTCCCAC CCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGGG ACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTC CCCCATAGGA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	330	0.0030	209	c.92+ others(224): Show c.92+1536_92+1537insTCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGG GTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGG GAGAGATGGGGTGAGGGGGTCCCTGTGGGGGAGAGATGGGGTGAGGGGGT CCCTGTGGGGAGAGATGGGGTGGGAGGGT	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP3K13_chr3_185358136_185494094	185453934	G G	GATATATA others(202): Show GATATATATGTGATGATACATATATATGAGATATATATGTGATACATATA TATGAGATATATATGTGATACATATATATGAGATATATATGTGATACATA TATATGAGATATATATGATACATATATATGAGATATATATATGATACATA TATATGAGATATATATGATACATATATATGAGATATATATATGATACATA TATATGAGAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	278	0.0036	209	c.127 others(228): Show c.1278+2548_1278+2549insTGATGATACATATATATGAGATATAT ATGTGATACATATATATGAGATATATATGTGATACATATATATGAGATAT ATATGTGATACATATATATGAGATATATATGATACATATATATGAGATAT ATATATGATACATATATATGAGATATATATGATACATATATATGAGATAT ATATATGATACATATATATGAGATATATATATG	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(202): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGA GGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGG GGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGG GAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGG GGGGAGAGGG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	163	0.0061	209	c.525 others(226): Show c.525+8627_525+8628insCCCTCTCCCCCCTCCCCCCTCTCCCCCC TCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCC CTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCC CCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCTCCCCCC TCCCCCCTCTCCCCCTCTCCCCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19477974	A A	AGAGAGGG others(202): Show AGAGAGGGAGGGAGGGGTGGGGAGAGAGAGAGAGAGGGAGGGAGGGATGG GGGAGAGAGAGGGGAGAGGGGAGGGAGAGGGGGGAGAGGGAGGAGAGAGG GGGGAGAGGGGGAGAGAGGGGGGAGATGGGGGAGAGGGGGGAGATGGGGG AGAGGGGGAGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGAGAGGGGGAG AGGGGGAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0142 a0002c0003t0007g0142	1	163	0.0061	209	c.525 others(226): Show c.525+8507_525+8508insCTCTCCCCCTCTCCCCCTCTCCCCCTCT CCCCCCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCATCTCCCCCCTCT CCCCCATCTCCCCCCTCTCTCCCCCTCTCCCCCCTCTCTCCTCCCTCTCC CCCCTCTCCCTCCCCTCTCCCCTCTCTCTCCCCCATCCCTCCCTCCCTCT CTCTCTCTCTCCCCACCCCTCCCTCCCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MBD3L3_chr19_7051207_7063676	7061721	T T	TTATATAA others(202): Show TTATATAATTAATATATATAATTATATATAATATAATTATATAATATATA ATTTATATATAATATAATTATATAATATATAATTTATATATTATATAATT ATATAATATATAATTTATATATAATATAATTATATAATATATAATTTATA TATAATATAATTATATAATATATAATTTATATATAATATAATTATATAAT ATATAATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18976.hp1 NA18976.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0005 a0002c0004t0001g0005	1	288	0.0035	209	c.-31 others(220): Show c.-3117_-3116insTAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATAATATATAAATTATAT ATTATATAATTATATTATATATAAATTATATATTATATAATTATATTATA TATAATTATATATATTAATTATATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3046		chr19	TogoVar
MEAK7_chr16_84471355_84509659	84479390	G G	GCTAATGC others(202): Show GCTAATGCCAGCGGAATTCCCTAATGCCAGCGGAATTCCCTAATGCCAGC GGAATTCCCTAATGCCAGCGGAATTCCCTAATGCCAGCGGAATTCCCTAA TGCCAGCGGAATTCCCTAATGCCAGCGGAATTCCCTAATGCCAGCGGAAT TCCCTAATGCCAGCGGAATTCCCTAATGCCAGCGGAATTCCCTAATGCCA GCGGAATTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0214 a0001c0002t0214	a0001c0002t0214g0292 a0001c0002t0214g0292	1	468	0.0021	209	c.52 others(218): Show c.522_*523insGGAATTCCGCTGGCATTAGGGAATTCCGCTGGCATT AGGGAATTCCGCTGGCATTAGGGAATTCCGCTGGCATTAGGGAATTCCGC TGGCATTAGGGAATTCCGCTGGCATTAGGGAATTCCGCTGGCATTAGGGA ATTCCGCTGGCATTAGGGAATTCCGCTGGCATTAGGGAATTCCGCTGGCA TTAGGGAATTCCGCTGGCATTAG	MEAK7	ENSG00000140950.16	transcript	ENST00000343629.11	protein_coding	8/8	522		chr16	TogoVar
MPI_chr15_74885042_74907219	74894039	A A	AGTGTGTG others(202): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTTTTCTGAGCCAGGGTCTCTTTCTGTTGCCCCAGGCTG GAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTC AAGCAATTCTCCTGCATTATTTATTTGACCCAAGCATATTTTTTTCTGTT CAGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19006.hp2 NA19002.hp2 NA19006.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0047 a0001c0003t0005g0047	2	422	0.0047	209	c.670 others(224): Show c.670+781_670+782insTTTCTGAGCCAGGGTCTCTTTCTGTTGCCC CAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCC CGGGTTCAAGCAATTCTCCTGCATTATTTATTTGACCCAAGCATATTTTT TTCTGTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGT	MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
MSLN_chr16_755734_773862	767864	A A	AGGGGGCA others(202): Show AGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCGC GTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGG GGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTG GGGGGGTGTGGAGGGGGGCGCATGGGGGTGCGTGGGGGGGCGCGTGGAGG GGGGGCGTGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0074 a0002c0003t0002g0074	1	388	0.0026	209	c.159 others(226): Show c.1596+396_1596+397insGGGCACGTGGAGGGGTCGCGTGGAGGAG GGGCGCGTGGAGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTG GAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGC GCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCATGGGGGTGC GTGGGGGGGCGCGTGGAGGGGGGGCGTGTGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTA1_chr14_105414827_105475729	105455980	T T	TGTGGGGA others(202): Show TGTGGGGAGGCCACTGTGCTGAGTGAGGCCTGTGGGTCTGAGCGTGGGGA GGCCGCTGTGCTGGGGCCTGGCCTGTGGGTCTGAGTGTGAGGAGGCCTCT GTGCTGGGGCCTGGCCTGTGGGTCTGAGCGTGGGGAGGCCGCTGTGCTGA GGCCTGTGGGTCTGAGCGTGGGGAGGCCTCTGTGCTGAGGCCTGGCCTGT GGGTCTGAGC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0046 a0003c0008t0001g0046	1	304	0.0033	209	c.550 others(226): Show c.550+1674_550+1675insGGAGGCCACTGTGCTGAGTGAGGCCTGT GGGTCTGAGCGTGGGGAGGCCGCTGTGCTGGGGCCTGGCCTGTGGGTCTG AGTGTGAGGAGGCCTCTGTGCTGGGGCCTGGCCTGTGGGTCTGAGCGTGG GGAGGCCGCTGTGCTGAGGCCTGTGGGTCTGAGCGTGGGGAGGCCTCTGT GCTGAGGCCTGGCCTGTGGGTCTGAGCGTGG	MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
MYT1_chr20_64159452_64247253	64174324	T T	TCTCCTCC others(202): Show TCTCCTCCTGCAGCATCTTTCCTTGTAGTTGTGTCCATTTTCCCTCCCTG ACTTCTCCTCCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTG ACTTCTCCTCCTGCAGCATCCTTCCCTGTAGTTGTGTCCATTTCCCCTCC CTGACTTCTCCTCCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCC CTGACTTCTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	223	0.0045	209	c.-99 others(226): Show c.-99+9590_-99+9591insCCTGCAGCATCTTTCCTTGTAGTTGTGT CCATTTTCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTCCTAGTTGTGT CCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCCTTCCCTGTAGTTG TGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTCCTAGTTG TGTCCATTTCCCCTCCCTGACTTCTCCTCCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64212173	G G	GGGTGGGG others(202): Show GGGTGGGGGCCGTGGTGGGGGGCCGTGGTGGGGGCCGTGGTGGGGGGCCA GGGTGGGGGCCGTGGTGGGGGGCCGTGGTGGGGGCCGTGGTGGGGGGCCA GGGTGGGGGCCAGGGTGGGGGCCGTGGTGGGGGCCGTGGTGGGGGCCGTG GTGGGGGCCGTGGTGGGGGGCCAGGGTGGGGGCCAGGGTGGGGGCCGTGG TGGGGGCCAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02735.hp2 HG03239.hp2 others(1): Show HG02602.hp2 HG02735.hp2 HG03239.hp2 HG04199.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0003 a0001c0005t0001 a0001c0005t0003	a0001c0005t0001g0027 a0001c0005t0003g0025 a0001c0005t0003g0050 others(1): Show a0001c0005t0001g0027 a0001c0005t0003g0025 a0001c0005t0003g0050 a0001c0005t0003g0200	4	223	0.0179	209	c.151 others(224): Show c.1517+55_1517+56insGCCGTGGTGGGGGCCGTGGTGGGGGGCCAG GGTGGGGGCCGTGGTGGGGGGCCGTGGTGGGGGCCGTGGTGGGGGGCCAG GGTGGGGGCCAGGGTGGGGGCCGTGGTGGGGGCCGTGGTGGGGGCCGTGG TGGGGGCCGTGGTGGGGGGCCAGGGTGGGGGCCAGGGTGGGGGCCGTGGT GGGGGCCATGGTGGGGGCCGTGGTGGGGG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NALCN_chr13_101048776_101421508	101391820	T T	TAAAAAAT others(202): Show TAAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03098.hp2 HG01192.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0003 a0001c0001t0001 a0001c0006t0003	a0001c0001t0001g0011 a0001c0006t0003g0016 a0001c0001t0001g0011 a0001c0006t0003g0016	2	176	0.0114	209	c.291 others(226): Show c.291+3362_291+3363insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGA CTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC CACCGCGCCCGGCTAATTTTTTGTATTTTTT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	3/43			chr13	TogoVar
NCAPG2_chr7_158626169_158709804	158668243	T T	TCCCTTAC others(202): Show TCCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTC CCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCCCCCTTACCCA CTACTGGGTCCCTCTGCCCTCCCTTACCTACCTTGTGTCCCTAGGCCCTC CCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCC CTCCGCCCCC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18998.hp2 NA18957.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0307 a0001c0001t0001g0308	2	378	0.0053	209	c.147 others(228): Show c.1479+3270_1479+3271insGGGGGCGGAGGGACCCAGTTGTGGGT AAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCCTAGGGACAC AAGGTAGGTAAGGGAGGGCAGAGGGACCCAGTAGTGGGTAAGGGGGGGCG GAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTA AGGGAGGGCCTAGGGACACAAGGTAGGTAAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NEGR1_chr1_71390943_72287539	71793264	A A	ATATATAT others(202): Show ATATATATATATATATATACACATAATATATATATACACACACACATATA TATACACATATATATTATATATACATATATAATATATTATATATACATAT ATACATATATATTATATATACATATATACATATATTATATATACATATAT ACATATATTATATATACATATATATACATATATATGTATGTGTGTGTATA TGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03195.hp1 NA20300.hp2 HG03041.hp1 HG03195.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010	a0001c0002t0001g0055 a0001c0002t0002g0053 a0001c0002t0010g0005 a0001c0002t0001g0055 a0001c0002t0002g0053 a0001c0002t0010g0005	3	64	0.0469	209	c.410 others(228): Show c.410-16968_410-16967insCACACACACATATACACACACATACA TATATATGTATATATATGTATATATAATATATGTATATATGTATATATAA TATATGTATATATGTATATATAATATATATGTATATATGTATATATAATA TATTATATATGTATATATAATATATATGTGTATATATATGTGTGTGTGTA TATATATATTATGTGTATATATATATATATATA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(202): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGAC AGAAAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGACAGAAAGAAAGACAG AAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAA AGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0210 a0001c0002t0001g0210	1	440	0.0023	209	c.319 others(224): Show c.319+282_319+283insCTTTCTTTCTTTCTGTCTTTCTTTCTGTCT TTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTT CTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTGTCTTTCTGTCTTTCTTTCTTTCTTTCT GTCTTTCTTTCTTTCTGTCTTTCTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP9_chr19_55703438_55743402	55713697	C C	CCACCTCT others(202): Show CCACCTCTCCCTCTCCCTCCCCACCTCTTCCCCCCCGCCTCCCCCACCTC TTCCCCCCGCCTCCCACCCTCTTCCCCCCCCTGCCTCCCCACCTCTTCCC CCCTCCTCCCACCTCTCCCCCTCTCCCCTCCCCACCTCTTCCCCCTCCTC CCCACCTCTCCCCTCTCCCTCCCCACCTCTTCCCCCCGCCTCCCCACCTC TTCCCCCCCG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	2	0.5000	209	c.250 others(228): Show c.2502-1108_2502-1107insCGGGGGGGAAGAGGTGGGGAGGCGGG GGGAAGAGGTGGGGAGGGAGAGGGGAGAGGTGGGGAGGAGGGGGAAGAGG TGGGGAGGGGAGAGGGGGAGAGGTGGGAGGAGGGGGGAAGAGGTGGGGAG GCAGGGGGGGGAAGAGGGTGGGAGGCGGGGGGAAGAGGTGGGGGAGGCGG GGGGGAAGAGGTGGGGAGGGAGAGGGAGAGGTG	NLRP9	ENSG00000185792.10	transcript	ENST00000332836.7	protein_coding	6/8			chr19	TogoVar
NME8_chr7_37843597_37905397	37848231	A A	AAAGAAGA others(202): Show AAAGAAGAAGAAGAAAAGAAGAAGAAAAGAAGAAGAAAAGAAGAAGAAGA AGAAAAGAAGAAGGAAGACGAAGAAGAAGAGGAAGAGGAAGAGAGAAGAA GAAGAAGAAGAAGAGGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGA AGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAG GAGAAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03486.hp2 HG03041.hp2 HG03486.hp2	a0003 a0003	a0003c0015 a0003c0023 a0003c0015 a0003c0023	a0003c0015t0001 a0003c0023t0001 a0003c0015t0001 a0003c0023t0001	a0003c0015t0001g0249 a0003c0023t0001g0245 a0003c0015t0001g0249 a0003c0023t0001g0245	2	388	0.0052	209	c.-73 others(218): Show c.-738_-737insAAGAAGAAGAAGAAAAGAAGAAGAAAAGAAGAAGAA AAGAAGAAGAAGAAGAAAAGAAGAAGGAAGACGAAGAAGAAGAGGAAGAG GAAGAGAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAGGAAGAGGAAG AGGAAGAGGAAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAA GAAGGAGAAGAAGGAGAAGAAGG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		365		chr7	TogoVar
NOTCH1_chr9_136489433_136551048	136535645	T T	TCCCAGGG others(202): Show TCCCAGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTC AGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACT CAGGATCCCTCCTGGGGCAATGGGTGCATGGTGGGTGGGGGGGAGCACTC AGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTC AGGATCCCTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0004 a0001c0041t0004	a0001c0041t0004g0033 a0001c0041t0004g0033	1	324	0.0031	209	c.140 others(226): Show c.140+8378_140+8379insGAGGGATCCTGAGTGCTCCCCCCCACCC ACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCC ACCATGCACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCTCTCCACC CACCCTGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCAC CCACTCCCACCCTGCACCCATTGCCCCTGGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCTCCCCA others(202): Show TCTCCCCAGAGTGGATTTCTCTTCTCTTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTT CCCCTTCCCTCTCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCC CCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02965.hp1 HG02622.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0127 a0001c0001t0007g0130 a0001c0001t0007g0127 a0001c0001t0007g0130	2	326	0.0061	209	c.433 others(226): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAAGAGAAGAGAAATCCACTCTGGGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCTCCCCA others(202): Show TCTCCCCAGAGTGGATTTCTCTTCTCTTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTT CCCCTTCCCTCTCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCC CCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0129 a0001c0001t0007g0129	1	326	0.0031	209	c.433 others(226): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAAGAGAAGAGAAATCCACTCTGGGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	948881	C C	CCTGCCTC others(202): Show CCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCCTGCCTCCTCC TCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCC TCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCC CCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGTGGCCTCCTC CTCTCCCCGT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	242	0.0041	209	c.360 others(228): Show c.360+30437_360+30438insACGGGGAGAGGAGGAGGCCACGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCC GGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGG GAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR11H4_chr14_20234286_20249349	20237790	A A	ACTATATA others(202): Show ACTATATAGTACATATAGTATATATAGCATATATAGTATATAGTACATAT AGTATATATAGTATATATAGTATATAGTATATATTTTATAGTATATATAG TATATATACTATATAGTATATATTATATAGTATATATACTATAAAGTACA TAATTTATATATTACATATAATACATAATATATATTTATATATTATATTA AATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	439	0.0023	209	c.-15 others(220): Show c.-1553_-1552insCTATATAGTACATATAGTATATATAGCATATATA GTATATAGTACATATAGTATATATAGTATATATAGTATATAGTATATATT TTATAGTATATATAGTATATATACTATATAGTATATATTATATAGTATAT ATACTATAAAGTACATAATTTATATATTACATATAATACATAATATATAT TTATATATTATATTAAATATATATT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1495		chr14	TogoVar
OR2T12_chr1_248285139_248308424	248306452	C C	CCCCTGAG others(202): Show CCCCTGAGGACTGGAGCCCCCAGAGGACTGGAGCCGCCTGAGGACTGGAG CCGCCCTGAGGACAGGAGCCGCCCTGAGGACAGGAGCCGCCTGAGGACTG GAGCCGCCCTGAGGACTGGAGCCGCCCTGAGGACTGGAGCCCCCTGAGGA CTGGAGCCGCCTGAGGACTGGAGCCGCCTGAGGACTGGAGCCCCCTGAGG ACTGGAGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(18): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00642.hp2 HG01169.hp2 HG01358.hp1 HG01433.hp1 HG02165.hp1 HG02559.hp1 HG02698.hp1 HG03490.hp1 NA18955.hp2 NA18956.hp1 NA18984.hp1 NA18992.hp1 NA19000.hp2 NA19007.hp1 NA19068.hp1 NA19078.hp2 NA19085.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0032 a0001c0008t0001 a0001c0001t0001 a0001c0001t0032 a0001c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0091 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0032g0096 a0001c0008t0001g0006	21	406	0.0517	209	c.-32 others(220): Show c.-3297_-3296insCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGG CGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAG GGCGGCTCCAGTCCTCAGGGCGGCTCCAGTCCTCAGGCGGCTCCTGTCCT CAGGGCGGCTCCTGTCCTCAGGGCGGCTCCAGTCCTCAGGCGGCTCCAGT CCTCTGGGGGCTCCAGTCCTCAGGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3029		chr1	TogoVar
OR2T12_chr1_248285139_248308424	248306504	G G	GCCCTGAG others(202): Show GCCCTGAGGACAGGAGCCGCCCTGAGGACAGGAGCCGCCTGAGGACTGGA GCCGCCCTGAGGACTGGAGCCGCCCTGAGGACTGGAGCCGCCCTGAGGAC TGGAGCCCCCTGAGGACTGGAGCCGCCTGAGGACTGGAGCCGCCTGAGGA CTGGAGCCCCCTGAGGACTGGAGCCGCCCTGAGGACTGGAGCCGCCTGAG GACTGGAACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0005 a0009c0010t0005	a0009c0010t0005g0021 a0009c0010t0005g0021	1	406	0.0025	209	c.-33 others(220): Show c.-3349_-3348insGGTTCCAGTCCTCAGGCGGCTCCAGTCCTCAGGG CGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAG GCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGGGCGGCTCCAGTCCTC AGGGCGGCTCCAGTCCTCAGGGCGGCTCCAGTCCTCAGGCGGCTCCTGTC CTCAGGGCGGCTCCTGTCCTCAGGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3081		chr1	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TTATATAA others(202): Show TTATATAATATATATTATATATATTATATATAATATATATTATATATATT ATATATAATATATATTATATATAATATATATAATATATATTATATATAAT ATATATTATATATAATATATATAATATATATTATATATATTATATATTAT ATATAATATATATAATATATATTATATATATTATATATAATATATATAAT ATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG03130.hp2 HG03195.hp1 HG02886.hp2 HG03130.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	450	0.0067	209	c.-23 others(220): Show c.-2357_-2356insTATAATATATATTATATATATTATATATAATATA TATAATATATATTATATATATTATATATAATATATAATATATATAATATA TATTATATATATTATATATAATATATATTATATATAATATATATTATATA TATTATATATAATATATATTATATATAATATATATAATATATATTATATA TAATATATATAATATATATTATATA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TTATATTA others(202): Show TTATATTATATATATTATATATATTATATATATAATATATATTATATATA TTATATATAATATATATTATATATAATATATATAATATATATTATATATA ATATATATTATATATAATATATATAATATATATTATATATAATATATTAT ATATAATATATATAATATATATTATATATATTATATATAATATATATAAT ATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	450	0.0022	209	c.-23 others(220): Show c.-2357_-2356insTATAATATATATTATATATATTATATATAATATA TATAATATATATTATATATATTATATATAATATATTATATATAATATATA TTATATATATTATATATAATATATATTATATATAATATATATTATATATA TTATATATAATATATATTATATATAATATATATAATATATATTATATATA TAATATATATAATATATATAATATA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TTATATTA others(202): Show TTATATTATATATATTATATATATTATATATATAATATATATTATATATA TTATATATAATATATATTATATATAATATATATTATATATATTATATATA ATATATATTATATATAATATATATAATATATATTATATATATTATATATT ATATATAATATATATAATATATATTATATATATTATATATAATATATATA ATATATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp1 NA18998.hp2 NA19070.hp2 NA18989.hp1 NA18998.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	450	0.0067	209	c.-23 others(220): Show c.-2357_-2356insTAATATATATTATATATATTATATATAATATATA TAATATATATTATATATATTATATATAATATATAATATATATAATATATA TTATATATATTATATATAATATATATTATATATAATATATATAATATATA TTATATATAATATATATTATATATAATATATATAATATATATTATATATA TAATATATATAATATATATAATATA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TTATATTA others(202): Show TTATATTATATATATTATATATATTATATTTAATATATATTATATATATT ATATATAATATATATTATATATAATATATATAATATATATTATATATAAT ATATATTATATATAATATATATAATATATATTATATATATTATATATTAT ATATAATATATATAATATATATTATATATATTATATATAATATATATAAT ATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	450	0.0022	209	c.-23 others(220): Show c.-2357_-2356insTATAATATATATTATATATATTATATATAATATA TATAATATATATTATATATATTATATATAATATATAATATATATAATATA TATTATATATATTATATATAATATATATTATATATAATATATATTATATA TATTATATATAATATATATTATATATAATATATATAATATATATTAAATA TAATATATATAATATATATAATATA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(202): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGA GGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGG GGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAG GGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	302	0.0033	209	c.155 others(226): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PCDHGA1_chr5_141325514_141517975	141407491	A A	ATTTCTGT others(202): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0204 a0002c0003t0001g0204	1	268	0.0037	209	c.242 others(230): Show c.2421+74400_2421+74401insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar

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Search Results (Total: 10000 hits)