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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
FBXO31_chr16_87321987_87388776	87365010	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0166 a0001c0001t0008g0166	1	376	0.0027	27	c.341 others(44): Show c.341-4645_341-4644insATATATATATATATATATATATATATA		FBXO31	ENSG00000103264.18	transcript	ENST00000311635.12	protein_coding	1/8						chr16	TogoVar
FBXO34_chr14_55266421_55358611	55323214	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0180 a0001c0001t0004g0180	1	334	0.0030	27	c.-10 others(46): Show c.-10-27167_-10-27166insTATATATATATATATATATATATATA T		FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1						chr14	TogoVar
FBXO34_chr14_55266421_55358611	55323216	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19009.hp1 HG02109.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0145 a0001c0001t0004g0113 a0001c0001t0003g0145 a0001c0001t0004g0113	2	334	0.0060	27	c.-10 others(46): Show c.-10-27165_-10-27164insTATATATATATATATATATATATATA T		FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1						chr14	TogoVar
FBXO34_chr14_55266421_55358611	55323218	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0004 a0006c0007t0004	a0006c0007t0004g0173 a0006c0007t0004g0173	1	334	0.0030	27	c.-10 others(46): Show c.-10-27162_-10-27161insATATATATATATATATATATATATAT A		FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55323225	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02818.hp2 HG01891.hp2 HG02486.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0112 a0001c0001t0004g0116 a0001c0001t0004g0143 a0001c0001t0004g0112 a0001c0001t0004g0116 a0001c0001t0004g0143	3	334	0.0090	27	c.-10 others(46): Show c.-10-27155_-10-27154insATATATATATATATATATATATATAT T		FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55323226	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03139.hp1 NA18948.hp1 HG01496.hp2 HG03139.hp1 NA18948.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0003 a0001c0001t0004 a0006c0007t0004 a0001c0001t0003 a0001c0001t0004 a0006c0007t0004	a0001c0001t0003g0131 a0001c0001t0004g0177 a0006c0007t0004g0172 a0001c0001t0003g0131 a0001c0001t0004g0177 a0006c0007t0004g0172	3	334	0.0090	27	c.-10 others(46): Show c.-10-27155_-10-27154insATATATATATATATATATATATATAT A		FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1						chr14	TogoVar
FBXO34_chr14_55266421_55358611	55338048	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp1 HG02080.hp2 others(1): Show HG00140.hp1 HG01243.hp1 HG02080.hp2 NA18950.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0004c0004 a0009c0012 a0001c0001 a0004c0004 a0009c0012	a0001c0001t0001 a0004c0004t0004 a0009c0012t0001 a0001c0001t0001 a0004c0004t0004 a0009c0012t0001	a0001c0001t0001g0245 a0001c0001t0001g0273 a0004c0004t0004g0315 others(1): Show a0001c0001t0001g0245 a0001c0001t0001g0273 a0004c0004t0004g0315 a0009c0012t0001g0188	4	334	0.0120	27	c.-10 others(46): Show c.-10-12314_-10-12313insTTTTTTTTTTTTTTTTTTTTTTTTTT T		FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO36_chr2_229917503_230018119	229954234	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0272 a0002c0002t0004g0272	1	342	0.0029	27	c.97- others(44): Show c.97-21981_97-21980insTTTTTTTTTTTTTTTTTTTTTTTTTTT		FBXO36	ENSG00000153832.12	transcript	ENST00000283946.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
FBXO40_chr3_121588379_121635295	121589229	A A	AAAAAACA others(20): Show AAAAAACAAAAGCACAACAAACCAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0327 a0002c0002t0004g0327	1	408	0.0025	27	c.-43 others(38): Show c.-4304_-4303insAAAAACAAAAGCACAACAAACCAAAAC		FBXO40	ENSG00000163833.8	transcript	ENST00000338040.6	protein_coding					4149		chr3	TogoVar
FBXO41_chr2_73249690_73289478	73276579	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0062 a0001c0001t0016g0062	1	374	0.0027	27	c.-13 others(46): Show c.-138-6812_-138-6811insCTCTCTCTCTCTCTCTCTCTCTCTCT C		FBXO41	ENSG00000163013.12	transcript	ENST00000520530.3	protein_coding	1/12						chr2	TogoVar
FBXO41_chr2_73249690_73289478	73276627	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0056 a0001c0001t0016g0056	1	374	0.0027	27	c.-13 others(46): Show c.-138-6860_-138-6859insCTCTCTCTCTCTCTCTCTCTCTCTCT C		FBXO41	ENSG00000163013.12	transcript	ENST00000520530.3	protein_coding	1/12						chr2	TogoVar
FBXO42_chr1_16241840_16357480	16326014	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0016	a0002c0003t0016g0043 a0002c0003t0016g0043	1	294	0.0034	27	c.-17 others(46): Show c.-17-10580_-17-10579insCACACACACACACACACACACACACA C		FBXO42	ENSG00000037637.11	transcript	ENST00000375592.8	protein_coding	1/9						chr1	TogoVar
FBXO42_chr1_16241840_16357480	16350757	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01993.hp1 HG03471.hp2 others(1): Show HG01175.hp1 HG01993.hp1 HG03471.hp2 NA18986.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0007 a0001c0001 a0002c0003 a0002c0007	a0001c0001t0002 a0002c0003t0003 a0002c0007t0005 a0001c0001t0002 a0002c0003t0003 a0002c0007t0005	a0001c0001t0002g0074 a0001c0001t0002g0075 a0002c0003t0003g0008 others(1): Show a0001c0001t0002g0074 a0001c0001t0002g0075 a0002c0003t0003g0008 a0002c0007t0005g0275	4	294	0.0136	27	c.-18 others(44): Show c.-18+1497_-18+1498insCTTTCTTTCTTTCTTTCTTTCTTTCTT		FBXO42	ENSG00000037637.11	transcript	ENST00000375592.8	protein_coding	1/9						chr1	TogoVar
FBXW11_chr5_171856549_172011638	171893421	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0150 a0002c0005t0001g0150	1	158	0.0063	27	c.715 others(44): Show c.715-1818_715-1817insTTTTTTTTTTTTTTTTTTTTTTTTTTT		FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	6/13						chr5	TogoVar
FBXW11_chr5_171856549_172011638	171952447	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	158	0.0063	27	c.147 others(44): Show c.147+5149_147+5150insAAAAAAATATATATATATATATATATA		FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	2/13						chr5	TogoVar
FBXW11_chr5_171856549_172011638	171952447	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 homoSapiens_chm13v2.hp1 HG00639.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0103 a0001c0001t0001g0105	2	158	0.0127	27	c.147 others(44): Show c.147+5149_147+5150insAAAAAAAAATATATATATATATATATA		FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	2/13						chr5	TogoVar
FBXW11_chr5_171856549_172011638	171952447	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	158	0.0063	27	c.147 others(44): Show c.147+5149_147+5150insAAAAAAAAAAATATATATATATATATA		FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	2/13						chr5	TogoVar
FBXW5_chr9_136935435_136949738	136938512	A A	ATTACAGG others(20): Show ATTACAGGCATGAACCACCGCGCCCGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	434	0.0023	27	c.24 others(38): Show c.2415_*2416insACCGGGCGCGGTGGTTCATGCCTGTAA		FBXW5	ENSG00000159069.14	transcript	ENST00000325285.8	protein_coding					1922		chr9	TogoVar
FBXW8_chr12_116905950_117036148	116956725	T T	TGGGAGGC others(20): Show TGGGAGGCCAAGGTGGGTGGATCACTTA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0071 a0002c0008t0002g0071	1	290	0.0035	27	c.677 others(44): Show c.677+7023_677+7049dupAGGCCAAGGTGGGTGGATCACTTAGGG		FBXW8	ENSG00000174989.13	transcript	ENST00000652555.1	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
FCER1A_chr1_159297336_159313202	159298151	T T	TCATCGGC others(20): Show TCATCGGCAAAGTGTGAGTGGCTGATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	448	0.0022	27	c.-42 others(38): Show c.-4214_-4213insCATCGGCAAAGTGTGAGTGGCTGATTA		FCER1A	ENSG00000179639.11	transcript	ENST00000693622.1	protein_coding					4184		chr1	TogoVar
FCGR2B_chr1_161658143_161683654	161661202	G G	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAGGAAGGAAGGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 NA18980.hp1 NA19010.hp1 HG04115.hp1 NA18980.hp1 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0111 a0002c0002t0001g0125 a0001c0001t0001g0001 a0002c0002t0001g0111 a0002c0002t0001g0125	3	394	0.0076	27	c.-20 others(38): Show c.-2040_-2039insAAAGAAAGAAAGAAGGAAGGAAGGAAA		FCGR2B	ENSG00000072694.22	transcript	ENST00000358671.10	protein_coding					1940		chr1	TogoVar
FCGR2B_chr1_161658143_161683654	161661206	G G	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAGGAAGGAAGGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02572.hp2 HG02109.hp1 HG02572.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0054 a0002c0002t0001g0110 a0001c0001t0001g0054 a0002c0002t0001g0110	2	394	0.0051	27	c.-20 others(38): Show c.-2036_-2035insAAAGAAAGAAAGAAGGAAGGAAGGAAA		FCGR2B	ENSG00000072694.22	transcript	ENST00000358671.10	protein_coding					1936		chr1	TogoVar
FCHSD2_chr11_72831745_73147318	72941468	G G	GTTTTATA others(20): Show GTTTTATATTCCCCACTCTATTTTATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00639.hp2 others(75): Show HG00438.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01081.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01517.hp2 HG01884.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02148.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02647.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG04115.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18956.hp1 NA18968.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp2 NA18985.hp1 NA19003.hp2 NA19007.hp2 NA19043.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp2 NA19077.hp2 NA19079.hp1 NA19084.hp1 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0017 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0017 a0001c0004t0001 a0001c0004t0015	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(75): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0017g0205 a0001c0004t0001g0006 a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0093 a0001c0004t0015g0092	78	290	0.2690	27	c.706 others(46): Show c.706-19519_706-19518insATATAAAATAGAGTGGGGAATATAAA A		FCHSD2	ENSG00000137478.15	transcript	ENST00000409418.9	protein_coding	8/19						chr11	TogoVar
FCHSD2_chr11_72831745_73147318	73096987	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03041.hp2 HG03139.hp1 HG02135.hp2 HG03041.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0011 a0001c0004t0001 a0001c0001t0001 a0001c0001t0011 a0001c0004t0001	a0001c0001t0001g0155 a0001c0001t0011g0157 a0001c0004t0001g0089 a0001c0001t0001g0155 a0001c0001t0011g0157 a0001c0004t0001g0089	3	290	0.0103	27	c.120 others(46): Show c.120-13274_120-13248dupAAAAAAAAAAAAAAAAAAAAAAAAAA A		FCHSD2	ENSG00000137478.15	transcript	ENST00000409418.9	protein_coding	2/19						chr11	TogoVar
FCMR_chr1_206898317_206926941	206907080	C C	CGGGGGGT others(20): Show CGGGGGGTGGGGGGGTGGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0162 a0001c0009t0001g0162	1	380	0.0026	27	c.104 others(46): Show c.1045-1960_1045-1934dupCCCCACCCCCCCACCCCCCCACCCCC C		FCMR	ENSG00000162894.12	transcript	ENST00000367091.8	protein_coding	7/7						chr1	TogoVar
FCN1_chr9_134898232_134922912	134905783	C C	CGCTGCTG others(20): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp2 HG01433.hp2 HG01943.hp2 others(1): Show HG01261.hp2 HG01433.hp2 HG01943.hp2 HG03017.hp1	a0001 a0010 a0001 a0010	a0001c0003 a0010c0014 a0001c0003 a0010c0014	a0001c0003t0270 a0001c0003t0276 a0001c0003t0280 others(1): Show a0001c0003t0270 a0001c0003t0276 a0001c0003t0280 a0010c0014t0242	a0001c0003t0270g0325 a0001c0003t0276g0328 a0001c0003t0280g0332 others(1): Show a0001c0003t0270g0325 a0001c0003t0276g0328 a0001c0003t0280g0332 a0010c0014t0242g0133	4	434	0.0092	27	c.40 others(38): Show c.4014_*4015insAGCAGCAGCAGCAGCAGCAGCAGCAGC		FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9				4014		chr9	TogoVar
FCN1_chr9_134898232_134922912	134905810	C C	CTCTTCTT others(20): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG02135.hp2 HG02698.hp1 others(1): Show HG01243.hp1 HG02135.hp2 HG02698.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0191 a0001c0001t0226 a0001c0001t0248 others(1): Show a0001c0001t0191 a0001c0001t0226 a0001c0001t0248 a0001c0003t0262	a0001c0001t0191g0079 a0001c0001t0226g0105 a0001c0001t0248g0123 others(1): Show a0001c0001t0191g0079 a0001c0001t0226g0105 a0001c0001t0248g0123 a0001c0003t0262g0320	4	434	0.0092	27	c.39 others(38): Show c.3987_*3988insAGAAGAAGAAGAAGAAGAAGAAGAAGA		FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9				3987		chr9	TogoVar
FCN1_chr9_134898232_134922912	134905907	T T	TCTTCTCC others(20): Show TCTTCTCCTCCTTCTTCTTCTCCTTCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0149 a0001c0001t0073g0149	1	434	0.0023	27	c.38 others(38): Show c.3890_*3891insGAGAAGGAGAAGAAGAAGGAGGAGAAG		FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9				3890		chr9	TogoVar
FCRL2_chr1_157740733_157782132	157760698	G G	GGAAAGAA others(20): Show GGAAAGAAAGAAATAAAGAAAGAAGAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0270 a0002c0003t0001g0270	1	380	0.0026	27	c.127 others(46): Show c.1279+6156_1279+6157insTTTCTTCTTTCTTTATTTCTTTCTTT C		FCRL2	ENSG00000132704.16	transcript	ENST00000361516.8	protein_coding	7/11						chr1	TogoVar
FCRL3_chr1_157671481_157705769	157703678	C C	CCAGGATG others(20): Show CCAGGATGGTTGGGTTTCACCATGCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	382	0.0026	27	c.-31 others(38): Show c.-3114_-3113insCCAGCATGGTGAAACCCAACCATCCTG		FCRL3	ENSG00000160856.21	transcript	ENST00000368184.8	protein_coding					2910		chr1	TogoVar
FCRL4_chr1_157568747_157603085	157573784	A A	AGCGCTGA others(20): Show AGCGCTGAAAGTGAATATCCTTTTGCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0029 a0001c0001t0013g0029	2	402	0.0050	27	c.17 others(38): Show c.1713_*1739dupAAGCAAAAGGATATTCACTTTCAGCGC		FCRL4	ENSG00000163518.11	transcript	ENST00000271532.2	protein_coding	12/12				1739		chr1	TogoVar
FCRL4_chr1_157568747_157603085	157585407	T T	TTTCTTCT others(20): Show TTTCTTCTTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02647.hp1 HG03471.hp2 HG01109.hp1 HG02647.hp1 HG03471.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0249 a0004c0005t0005g0253 a0004c0005t0005g0254 a0004c0005t0005g0249 a0004c0005t0005g0253 a0004c0005t0005g0254	3	402	0.0075	27	c.113 others(44): Show c.1135+760_1135+761insGGAAAGAAAGAAAGAAAGAAAGAAGAA		FCRL4	ENSG00000163518.11	transcript	ENST00000271532.2	protein_coding	6/11						chr1	TogoVar
FCSK_chr16_70449595_70485274	70454657	A A	AGCGCCCC others(20): Show AGCGCCCCTTGCGCCCCTTGCGCCCCTT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	356	0.0028	27	c.-23 others(40): Show c.-23+35_-23+61dupTTGCGCCCCTTGCGCCCCTTGCGCCCC		FCSK	ENSG00000157353.17	transcript	ENST00000288078.11	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr16	TogoVar
FEM1A_chr19_4786734_4806273	4799904	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG01192.hp1 HG00735.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0114 a0001c0001t0091 a0001c0001t0114	a0001c0001t0091g0000 a0001c0001t0114g0000 a0001c0001t0091g0000 a0001c0001t0114g0000	2	430	0.0047	27	c.60 others(38): Show c.6043_*6069dupAAAAAAAAAAAAAAAAAAAAAAAAAAA		FEM1A	ENSG00000141965.5	transcript	ENST00000269856.5	protein_coding	1/1				6070	INFO_REALIGN_3_PRIME	chr19	TogoVar
FER1L6_chr8_123846987_124125061	123855964	G G	GATATACA others(20): Show GATATACATATGTATATGAGATATATGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp2 HG02965.hp2 others(2): Show HG01243.hp1 HG02572.hp2 HG02965.hp2 HG02976.hp1 NA19081.hp2	a0001 a0002 a0023 a0001 a0002 a0023	a0001c0001 a0001c0014 a0002c0012 others(2): Show a0001c0001 a0001c0014 a0002c0012 a0002c0018 a0023c0044	a0001c0001t0003 a0001c0014t0005 a0002c0012t0002 others(2): Show a0001c0001t0003 a0001c0014t0005 a0002c0012t0002 a0002c0018t0001 a0023c0044t0004	a0001c0001t0003g0077 a0001c0014t0005g0094 a0002c0012t0002g0060 others(2): Show a0001c0001t0003g0077 a0001c0014t0005g0094 a0002c0012t0002g0060 a0002c0018t0001g0101 a0023c0044t0004g0083	5	196	0.0255	27	c.-8+ others(42): Show c.-8+3846_-8+3872dupATATGAGATATATGTATATACATATGT		FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40					INFO_REALIGN_3_PRIME	chr8	TogoVar
FER1L6_chr8_123846987_124125061	123855977	A A	ATATGAGA others(20): Show ATATGAGATATATGTATATACATATGTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0054 a0001c0004t0003g0054	1	196	0.0051	27	c.-8+ others(42): Show c.-8+3818_-8+3819insGTATGAGATATATGTATATACATATGT		FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40					INFO_REALIGN_3_PRIME	chr8	TogoVar
FER1L6_chr8_123846987_124125061	123856004	A A	ATATGAGA others(20): Show ATATGAGATATATGTATATACATATGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0002 a0002c0026t0002	a0002c0026t0002g0151 a0002c0026t0002g0151	1	196	0.0051	27	c.-8+ others(42): Show c.-8+3845_-8+3846insGTATGAGATATATGTATATACATATGT		FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40					INFO_REALIGN_3_PRIME	chr8	TogoVar
FER1L6_chr8_123846987_124125061	123856025	A A	ATATGTAT others(20): Show ATATGTATATGAGATATATGTATATACT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02886.hp2 HG03209.hp2 HG02109.hp1 HG02886.hp2 HG03209.hp2	a0001 a0001	a0001c0008 a0001c0020 a0001c0008 a0001c0020	a0001c0008t0001 a0001c0008t0002 a0001c0020t0004 a0001c0008t0001 a0001c0008t0002 a0001c0020t0004	a0001c0008t0001g0130 a0001c0008t0002g0070 a0001c0020t0004g0069 a0001c0008t0001g0130 a0001c0008t0002g0070 a0001c0020t0004g0069	3	196	0.0153	27	c.-8+ others(42): Show c.-8+3866_-8+3867insTTATGTATATGAGATATATGTATATAC		FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40					INFO_REALIGN_3_PRIME	chr8	TogoVar
FER1L6_chr8_123846987_124125061	123974659	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03209.hp2 HG03579.hp1 HG00140.hp2 HG03209.hp2 HG03579.hp1	a0001 a0012 a0001 a0012	a0001c0004 a0001c0008 a0012c0036 a0001c0004 a0001c0008 a0012c0036	a0001c0004t0003 a0001c0008t0001 a0012c0036t0001 a0001c0004t0003 a0001c0008t0001 a0012c0036t0001	a0001c0004t0003g0090 a0001c0008t0001g0130 a0012c0036t0001g0165 a0001c0004t0003g0090 a0001c0008t0001g0130 a0012c0036t0001g0165	3	196	0.0153	27	c.527 others(42): Show c.527-468_527-467insAAAAAAAAAAAAAAAAAAAAAAAAAAA		FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	7/40					INFO_REALIGN_3_PRIME	chr8	TogoVar
FERMT2_chr14_52852273_52956050	52902868	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp1 HG01071.hp2 others(2): Show HG00280.hp2 HG01070.hp1 HG01071.hp2 HG02896.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0152 a0001c0001t0008g0165 a0001c0002t0002g0008 others(2): Show a0001c0001t0001g0152 a0001c0001t0008g0165 a0001c0002t0002g0008 a0001c0004t0001g0207 a0001c0004t0001g0208	5	288	0.0174	27	c.392 others(44): Show c.392-9442_392-9441insTTTTTTTTTTTTTTTTTTTTTTTTTTT		FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	3/14						chr14	TogoVar
FERMT2_chr14_52852273_52956050	52913680	C C	CAGTAGTA others(20): Show CAGTAGTAGTAGTAGTAGTAGTAGTAGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01515.hp1 HG02615.hp1 HG00741.hp2 HG01515.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0002t0002g0186 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0002t0002g0186	3	288	0.0104	27	c.391 others(44): Show c.391+5416_391+5442dupACTACTACTACTACTACTACTACTACT		FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	3/14						chr14	TogoVar
FERMT2_chr14_52852273_52956050	52943208	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03225.hp2 HG03471.hp2 HG02257.hp1 HG03225.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189	3	288	0.0104	27	c.157 others(44): Show c.157+7203_157+7204insTTTTTTTTTTTTTTTTTTTTTTTTTTT		FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	2/14						chr14	TogoVar
FER_chr5_108742897_109201841	108859920	C C	CTATTATT others(20): Show CTATTATTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0066 a0002c0003t0003g0066	1	138	0.0073	27	c.482 others(44): Show c.482-7836_482-7810dupATTATTATTATTATTATTATTATTATT		FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	108927252	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG04228.hp2 NA18522.hp1 HG03139.hp1 HG04228.hp2 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0009 a0001c0002 a0003c0009	a0001c0002t0001 a0003c0009t0002 a0001c0002t0001 a0003c0009t0002	a0001c0002t0001g0001 a0001c0002t0001g0121 a0003c0009t0002g0058 a0001c0002t0001g0001 a0001c0002t0001g0121 a0003c0009t0002g0058	3	138	0.0217	27	c.123 others(48): Show c.1237-18859_1237-18858insTTTTTTTTTTTTTTTTTTTTTTTT TTT		FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
FES_chr15_90879504_90900776	90898965	T T	TTGATGAA others(20): Show TTGATGAATGTCAAAGACGTGGTTGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	412	0.0024	27	c.34 others(38): Show c.3407_*3408insTGATGAATGTCAAAGACGTGGTTGGGC		FES	ENSG00000182511.12	transcript	ENST00000328850.8	protein_coding					3190		chr15	TogoVar
FEZ1_chr11_125437881_125501265	125449441	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02027.hp2 HG02040.hp2 HG00735.hp1 HG02027.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0057 a0001c0001t0003g0090 a0001c0001t0003g0022 a0001c0001t0003g0057 a0001c0001t0003g0090	3	356	0.0084	27	c.109 others(44): Show c.1097-875_1097-874insCTTTTTTTTTTTTTTTTTTTTTTTTTT		FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	8/9						chr11	TogoVar
FEZ1_chr11_125437881_125501265	125489688	G G	GAAACACT others(20): Show GAAACACTGGGGCTTCTCCTCCGGGTCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19057.hp2 NA19057.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0206 a0005c0008t0002g0206	1	356	0.0028	27	c.63_ others(32): Show c.63_89dupGGACCCGGAGGAGAAGCCCCAGTGTTT	p.Cys others(38): Show p.Cys29_Phe30insLeuAspProGluGluLysProGlnCys	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	2/10	279/4583	89/1179	30/392			chr11	TogoVar
FEZF1_chr7_122296303_122309750	122299033	T T	TCTCTCTC others(20): Show TCTCTCTCCTCTCCTCTCCTCTCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	436	0.0023	27	c.29 others(38): Show c.2963_*2964insGAGAGGAGAGGAGAGGAGAGGAGAGAG		FEZF1	ENSG00000128610.12	transcript	ENST00000442488.7	protein_coding					2269		chr7	TogoVar
FGD4_chr12_32394558_32651050	32422288	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0007 a0002c0006t0007	a0002c0006t0007g0169 a0002c0006t0007g0169	1	232	0.0043	27	c.166 others(46): Show c.166+22331_166+22357dupTTTTTTTTTTTTTTTTTTTTTTTTTT T		FGD4	ENSG00000139132.16	transcript	ENST00000534526.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
FGD4_chr12_32394558_32651050	32599494	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01433.hp1 HG02129.hp2 HG00099.hp2 HG01433.hp1 HG02129.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0002 a0002c0006t0007 a0001c0004t0002 a0002c0006t0007	a0001c0004t0002g0046 a0002c0006t0007g0169 a0002c0006t0007g0200 a0001c0004t0002g0046 a0002c0006t0007g0169 a0002c0006t0007g0200	3	232	0.0129	27	c.110 others(44): Show c.1101+922_1101+923insAAAAAAAAAAAAAAAAAAAAAAAAAAA		FGD4	ENSG00000139132.16	transcript	ENST00000534526.7	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr12	TogoVar

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