JoGo: Joint Open Genome and Omics Platform

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
FBXO34_chr14_55266421_55358611	55323212	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0115 a0001c0001t0004g0115	1	334	0.0030	30	c.-10 others(49): Show c.-10-27168_-10-27167insTATATATATATATATATATATATATA TATA	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(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0133	1	334	0.0030	30	c.-10 others(49): Show c.-10-27155_-10-27154insATATATATATATATATATATATATAT TTTT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO3_chr11_33735944_33779520	33740546	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	382	0.0026	30	c.13 others(41): Show c.1361_*1362insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	FBXO3	ENSG00000110429.14	transcript	ENST00000265651.8	protein_coding		397		chr11	TogoVar
FBXO42_chr1_16241840_16357480	16326038	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01256.hp2 others(7): Show HG01167.hp2 HG01169.hp2 HG01256.hp2 HG01258.hp1 HG01952.hp2 HG02004.hp1 HG03017.hp2 HG03491.hp2 NA18978.hp1 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0002 a0002c0003t0003g0036 a0002c0003t0003g0041 others(7): Show a0002c0003t0003g0002 a0002c0003t0003g0036 a0002c0003t0003g0041 a0002c0003t0003g0047 a0002c0003t0003g0048 a0002c0003t0003g0049 a0002c0003t0003g0050 a0002c0003t0003g0051 a0002c0003t0003g0052 a0002c0003t0003g0055	10	294	0.0340	30	c.-17 others(49): Show c.-17-10604_-17-10603insGACACACACACACACACACACACACA CACA	FBXO42	ENSG00000037637.11	transcript	ENST00000375592.8	protein_coding	1/9			chr1	TogoVar
FBXO42_chr1_16241840_16357480	16350757	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	294	0.0034	30	c.-18 others(47): Show c.-18+1497_-18+1498insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	FBXO42	ENSG00000037637.11	transcript	ENST00000375592.8	protein_coding	1/9			chr1	TogoVar
FBXO42_chr1_16241840_16357480	16356101	A A	AACGGAGG others(23): Show AACGGAGGAGGAGGAAAAGAGAGAGATCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0252 a0001c0002t0001g0252	1	294	0.0034	30	c.-38 others(41): Show c.-3865_-3864insAGAGATCTCTCTCTTTTCCTCCTCCTCCGT	FBXO42	ENSG00000037637.11	transcript	ENST00000375592.8	protein_coding		3622		chr1	TogoVar
FBXO47_chr17_38931432_38972403	38944848	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	344	0.0029	30	c.793 others(45): Show c.793+111_793+112insCACACACACACACACACACACACACACACA	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	7/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38945948	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0008 a0006c0008t0008	a0006c0008t0008g0007 a0006c0008t0008g0007	1	344	0.0029	30	c.617 others(45): Show c.617-813_617-812insATATATTTTTTTTTTTTTTTTTTTTTTTTT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946953	A A	AATATATA others(23): Show AATATATAAACATATATAAATATATGTAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp2 HG02630.hp1 HG01243.hp2 HG02451.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021	3	344	0.0087	30	c.617 others(47): Show c.617-1847_617-1818dupATTTACATATATTTATATATGTTTATAT AT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO7_chr22_32469811_32503829	32491540	T T	TATATATA others(23): Show TATATATATGTCTATATAGACATATATTTAG	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18963.hp1 HG03669.hp1 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0080 a0002c0002t0001g0070 a0002c0002t0001g0080	2	414	0.0048	30	c.967 others(45): Show c.967+416_967+445dupTTAGATATATATGTCTATATAGACATATAT	FBXO7	ENSG00000100225.18	transcript	ENST00000266087.12	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBXW11_chr5_171856549_172011638	171952447	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	158	0.0063	30	c.147 others(47): Show c.147+5149_147+5150insAAAAAAAATATATATATATATATATATA TA	FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	2/13			chr5	TogoVar
FBXW11_chr5_171856549_172011638	171952447	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	158	0.0063	30	c.147 others(47): Show c.147+5149_147+5150insAAAAAAAAAATATATATATATATATATA TA	FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	2/13			chr5	TogoVar
FBXW11_chr5_171856549_172011638	171952447	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp1 HG02717.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0076 a0001c0001t0001g0077	2	158	0.0127	30	c.147 others(47): Show c.147+5149_147+5150insAAAAAAAAAAAATATATATATATATATA TA	FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	2/13			chr5	TogoVar
FBXW11_chr5_171856549_172011638	171952447	A A	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	158	0.0063	30	c.147 others(47): Show c.147+5149_147+5150insAAAAAAAAAAAAAATATATATATATATA TA	FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	2/13			chr5	TogoVar
FCGR1A_chr1_149777694_149796675	149789409	A A	AATAATAA others(23): Show AATAATAATAATAATAATAATAATAATAATG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	414	0.0024	30	c.560 others(45): Show c.560-634_560-633insAATAATAATAATAATAATGATAATAATAAT	FCGR1A	ENSG00000150337.14	transcript	ENST00000369168.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
FCHSD2_chr11_72831745_73147318	73096987	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18956.hp2 NA19005.hp1 others(1): Show HG00738.hp1 NA18956.hp2 NA19005.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0131 a0001c0001t0001g0141 a0001c0001t0001g0170 others(1): Show a0001c0001t0001g0131 a0001c0001t0001g0141 a0001c0001t0001g0170 a0001c0001t0018g0288	4	290	0.0138	30	c.120 others(49): Show c.120-13248_120-13247insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	FCHSD2	ENSG00000137478.15	transcript	ENST00000409418.9	protein_coding	2/19			chr11	TogoVar
FCHSD2_chr11_72831745_73147318	73142811	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02717.hp1 HG02895.hp1 others(2): Show HG02293.hp2 HG02717.hp1 HG02895.hp1 HG03654.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0242 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0242 a0001c0001t0001g0267 a0001c0001t0002g0119	5	290	0.0172	30	c.-93 others(39): Show c.-935_-934insACACACACACACACACACACACACACACAC	FCHSD2	ENSG00000137478.15	transcript	ENST00000409418.9	protein_coding		494		chr11	TogoVar
FCN1_chr9_134898232_134922912	134905810	C C	CTCTTCTT others(23): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03491.hp2 HG03492.hp2 NA19003.hp2 HG03491.hp2 HG03492.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0189 a0001c0001t0029 a0001c0001t0189	a0001c0001t0029g0019 a0001c0001t0189g0076 a0001c0001t0029g0019 a0001c0001t0189g0076	3	434	0.0069	30	c.39 others(41): Show c.3987_*3988insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9	3987		chr9	TogoVar
FCN1_chr9_134898232_134922912	134905907	T T	TCTCCTCC others(23): Show TCTCCTCCTTCTTCTTCTCCTTCTCCTTCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0246 a0001c0001t0063g0246	1	434	0.0023	30	c.38 others(41): Show c.3890_*3891insGAGAAGGAGAAGGAGAAGAAGAAGGAGGAG	FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9	3890		chr9	TogoVar
FCN1_chr9_134898232_134922912	134905913	T T	TCTCCTCC others(23): Show TCTCCTCCTTCTTCTTCTCCTTCTCCTTCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG02451.hp2 others(3): Show HG01109.hp2 HG01243.hp2 HG02451.hp2 HG02965.hp2 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0071 a0001c0001t0072 others(1): Show a0001c0001t0016 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074	a0001c0001t0016g0041 a0001c0001t0016g0262 a0001c0001t0071g0268 others(2): Show a0001c0001t0016g0041 a0001c0001t0016g0262 a0001c0001t0071g0268 a0001c0001t0072g0269 a0001c0001t0074g0148	6	434	0.0138	30	c.38 others(41): Show c.3884_*3885insGAGAAGGAGAAGGAGAAGAAGAAGGAGGAG	FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9	3884		chr9	TogoVar
FCN1_chr9_134898232_134922912	134905921	T T	TTCTCCCT others(23): Show TTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0058 a0001c0003t0058	a0001c0003t0058g0052 a0001c0003t0058g0052	1	434	0.0023	30	c.38 others(41): Show c.3847_*3876dupGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9	3876		chr9	TogoVar
FCRL4_chr1_157568747_157603085	157571791	C C	CTACAGCA others(23): Show CTACAGCAAGGCTCTACAGGAGAATCACAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0201 a0001c0002t0023g0201	1	402	0.0025	30	c.37 others(41): Show c.3732_*3733insACTGTGATTCTCCTGTAGAGCCTTGCTGTA	FCRL4	ENSG00000163518.11	transcript	ENST00000271532.2	protein_coding		1955		chr1	TogoVar
FCRL4_chr1_157568747_157603085	157585344	C C	CTTTCTTT others(23): Show CTTTCTTTCCTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0246 a0001c0001t0005g0246	1	402	0.0025	30	c.113 others(47): Show c.1135+823_1135+824insAAGAAAGAAAGAAAGAAAGAAGGAAAGA AA	FCRL4	ENSG00000163518.11	transcript	ENST00000271532.2	protein_coding	6/11			chr1	TogoVar
FCRL5_chr1_157508377_157557515	157546450	A A	AAAACCAA others(23): Show AAAACCAAACCAAACCAAACCAAACCAAACC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18973.hp1 NA18942.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0087 a0001c0001t0001g0088	2	366	0.0055	30	c.307 others(45): Show c.307+463_307+492dupGGTTTGGTTTGGTTTGGTTTGGTTTGGTTT	FCRL5	ENSG00000143297.19	transcript	ENST00000361835.8	protein_coding	3/16			chr1	TogoVar
FDX1_chr11_110424948_110469884	110444728	A A	ATATATAT others(23): Show ATATATATATACGTGTATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03130.hp1 HG02055.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0175 a0001c0001t0003g0176	2	400	0.0050	30	c.310 others(47): Show c.310+8780_310+8781insCGTGTATATATATATATACGTATATATA TA	FDX1	ENSG00000137714.3	transcript	ENST00000260270.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
FDX2_chr19_10305045_10321015	10313650	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0198 a0001c0002t0001g0198	1	444	0.0023	30	c.307 others(47): Show c.307+1735_307+1736insATATATATATATATATATATATATATAT AT	FDX2	ENSG00000267673.7	transcript	ENST00000393708.3	protein_coding	3/4			chr19	TogoVar
FER1L6_chr8_123846987_124125061	123856316	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0008 a0001c0006t0002g0008	1	196	0.0051	30	c.-8+ others(45): Show c.-8+4132_-8+4133insGTGTGTATATATATATATATATATATATAT	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(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01358.hp1 HG02135.hp2 others(7): Show HG01256.hp2 HG01358.hp1 HG02135.hp2 HG02615.hp1 HG02698.hp2 NA18950.hp1 NA18954.hp1 NA18990.hp2 NA19004.hp2 NA19066.hp2	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0004 a0001c0005 a0001c0008 others(5): Show a0001c0004 a0001c0005 a0001c0008 a0001c0014 a0001c0023 a0001c0024 a0003c0039 a0014c0043	a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 others(6): Show a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 a0001c0008t0002 a0001c0014t0003 a0001c0023t0001 a0001c0024t0002 a0003c0039t0002 a0014c0043t0002	a0001c0004t0002g0123 a0001c0004t0002g0131 a0001c0005t0001g0119 others(7): Show a0001c0004t0002g0123 a0001c0004t0002g0131 a0001c0005t0001g0119 a0001c0005t0002g0175 a0001c0008t0002g0143 a0001c0014t0003g0080 a0001c0023t0001g0006 a0001c0024t0002g0163 a0003c0039t0002g0134 a0014c0043t0002g0007	10	196	0.0510	30	c.527 others(45): Show c.527-468_527-467insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	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(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03710.hp1 HG01981.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0271 a0001c0001t0001g0166 a0001c0001t0001g0271	2	288	0.0069	30	c.392 others(47): Show c.392-9442_392-9441insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	3/14			chr14	TogoVar
FERMT2_chr14_52852273_52956050	52943208	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0190 a0001c0002t0002g0190	1	288	0.0035	30	c.157 others(47): Show c.157+7203_157+7204insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	2/14			chr14	TogoVar
FER_chr5_108742897_109201841	108879697	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0035 a0001c0011t0035	a0001c0011t0035g0006 a0001c0011t0035g0006	1	138	0.0073	30	c.924 others(47): Show c.924-3698_924-3697insTATATATATATATATATATATATATATA TA	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FEZ1_chr11_125437881_125501265	125457470	A A	ATATATAT others(23): Show ATATATATATACACATATATGTGTATATATG	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0172 a0001c0001t0007g0172	1	356	0.0028	30	c.668 others(47): Show c.668-1365_668-1364insCATATATACACATATATGTGTATATATA TA	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	5/9			chr11	TogoVar
FEZ1_chr11_125437881_125501265	125457472	G G	GTATATAT others(23): Show GTATATATACACATATATGTGTATATATGTA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18960.hp2 NA18962.hp2 others(3): Show NA18747.hp2 NA18960.hp2 NA18962.hp2 NA18982.hp1 NA18982.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0001 a0001c0001t0007 a0002c0002t0001	a0001c0001t0007g0191 a0001c0001t0007g0199 a0001c0001t0007g0203 others(3): Show a0001c0001t0007g0191 a0001c0001t0007g0199 a0001c0001t0007g0203 a0001c0001t0007g0205 a0001c0001t0007g0233 a0002c0002t0001g0112	6	356	0.0169	30	c.668 others(47): Show c.668-1396_668-1367dupTACATATATACACATATATGTGTATATA TA	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	5/9			chr11	TogoVar
FEZ1_chr11_125437881_125501265	125457483	C C	CATATATG others(23): Show CATATATGTGTATATATGTATATATATACAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp1 others(53): Show HG00099.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01952.hp2 HG02040.hp1 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02273.hp1 HG02280.hp2 HG02922.hp2 HG02965.hp2 HG03704.hp1 HG04204.hp1 NA18612.hp2 NA18939.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18959.hp2 NA18960.hp1 NA18970.hp1 NA18971.hp2 NA18975.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18998.hp2 NA19004.hp1 NA19005.hp1 NA19010.hp1 NA19011.hp2 NA19063.hp1 NA19070.hp2 NA19080.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0021	a0001c0001t0001g0002 a0001c0001t0001g0096 a0001c0001t0001g0109 others(52): Show a0001c0001t0001g0002 a0001c0001t0001g0096 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0307 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0016g0003 a0001c0001t0021g0180	56	356	0.1573	30	c.668 others(47): Show c.668-1378_668-1377insATGTATATATATACATATATACACATAT AT	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	5/9			chr11	TogoVar
FEZF1_chr7_122296303_122309750	122299034	T T	TTCTCCTC others(23): Show TTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG01952.hp1 others(4): Show HG00408.hp1 HG00558.hp2 HG01952.hp1 HG02132.hp2 NA18946.hp2 NA18963.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0040 a0001c0001t0002g0002 a0001c0001t0002g0003 others(1): Show a0001c0001t0001g0040 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0006	7	436	0.0161	30	c.29 others(41): Show c.2962_*2963insGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA	FEZF1	ENSG00000128610.12	transcript	ENST00000442488.7	protein_coding		2268		chr7	TogoVar
FGD4_chr12_32394558_32651050	32422288	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0215 a0002c0002t0009g0215	1	232	0.0043	30	c.166 others(49): Show c.166+22357_166+22358insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	FGD4	ENSG00000139132.16	transcript	ENST00000534526.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
FGD4_chr12_32394558_32651050	32500392	T T	TTTTTATT others(23): Show TTTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0009 a0009	a0009c0022 a0009c0022	a0009c0022t0059 a0009c0022t0059	a0009c0022t0059g0100 a0009c0022t0059g0100	1	232	0.0043	30	c.167 others(49): Show c.167-63715_167-63686dupATTTTATTTTATTTTATTTTATTTTA TTTT	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(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0141 a0001c0004t0002g0141	1	232	0.0043	30	c.110 others(47): Show c.1101+922_1101+923insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	FGD4	ENSG00000139132.16	transcript	ENST00000534526.7	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
FGD6_chr12_95071749_95222467	95083012	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0017 a0001c0028t0017	a0001c0028t0017g0269 a0001c0028t0017g0269	1	384	0.0026	30	c.425 others(49): Show c.4257-1457_4257-1456insATATATATATATATATATATATATTT TTTT	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	20/20			chr12	TogoVar
FGD6_chr12_95071749_95222467	95083012	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG02922.hp2 others(1): Show HG01891.hp2 HG02280.hp1 HG02922.hp2 HG02970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0002c0011 a0001c0001 a0002c0005 a0002c0011	a0001c0001t0008 a0002c0005t0008 a0002c0011t0017 a0001c0001t0008 a0002c0005t0008 a0002c0011t0017	a0001c0001t0008g0303 a0002c0005t0008g0256 a0002c0005t0008g0258 others(1): Show a0001c0001t0008g0303 a0002c0005t0008g0256 a0002c0005t0008g0258 a0002c0011t0017g0250	4	384	0.0104	30	c.425 others(49): Show c.4257-1457_4257-1456insATATATATATATATATATATATATAT TTTT	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	20/20			chr12	TogoVar
FGD6_chr12_95071749_95222467	95083012	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0017 a0002c0011t0017	a0002c0011t0017g0192 a0002c0011t0017g0192	1	384	0.0026	30	c.425 others(49): Show c.4257-1457_4257-1456insATATATATATATATATATATATATAT ATTT	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	20/20			chr12	TogoVar
FGD6_chr12_95071749_95222467	95083012	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0005 a0001c0001t0013g0005	1	384	0.0026	30	c.425 others(49): Show c.4257-1457_4257-1456insATATATATATATATATATATATATAT ATAT	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	20/20			chr12	TogoVar
FGD6_chr12_95071749_95222467	95083030	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02004.hp1 HG01934.hp2 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0221 a0002c0002t0003g0244 a0002c0002t0003g0221 a0002c0002t0003g0244	2	384	0.0052	30	c.425 others(49): Show c.4256+1467_4256+1468insGTGTGTATATATATATATATATATAT ATAT	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	20/20			chr12	TogoVar
FGD6_chr12_95071749_95222467	95083030	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18960.hp1 NA18522.hp2 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0020 a0002c0002 a0002c0020	a0002c0002t0003 a0002c0020t0003 a0002c0002t0003 a0002c0020t0003	a0002c0002t0003g0245 a0002c0020t0003g0213 a0002c0002t0003g0245 a0002c0020t0003g0213	2	384	0.0052	30	c.425 others(49): Show c.4256+1467_4256+1468insGTGTATATATATATATATATATATAT ATAT	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	20/20			chr12	TogoVar
FGD6_chr12_95071749_95222467	95148817	A A	ATTATATA others(23): Show ATTATATATATTATATAATACATAGCATATG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0163 a0001c0001t0006g0163	1	384	0.0026	30	c.268 others(49): Show c.2685+3993_2685+3994insCATATGCTATGTATTATATAATATAT ATAA	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar
FGD6_chr12_95071749_95222467	95148835	T T	TATATAGC others(23): Show TATATAGCATATATTATATATATTATATAAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0315 a0001c0001t0033g0316 a0001c0001t0033g0315 a0001c0001t0033g0316	2	384	0.0052	30	c.268 others(49): Show c.2685+3946_2685+3975dupCTTATATAATATATATAATATATGCT ATAT	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar
FGD6_chr12_95071749_95222467	95202390	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp1 HG00738.hp1 others(6): Show HG00609.hp2 HG00639.hp1 HG00738.hp1 HG01175.hp1 HG01255.hp2 HG02698.hp2 HG03492.hp2 HG04228.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0060 a0001c0006t0005 a0001c0006t0009 others(2): Show a0001c0001t0060 a0001c0006t0005 a0001c0006t0009 a0001c0006t0063 a0001c0006t0069	a0001c0001t0060g0294 a0001c0006t0005g0200 a0001c0006t0009g0198 others(6): Show a0001c0001t0060g0294 a0001c0006t0005g0200 a0001c0006t0009g0198 a0001c0006t0009g0202 a0001c0006t0009g0203 a0001c0006t0009g0204 a0001c0006t0009g0206 a0001c0006t0063g0201 a0001c0006t0069g0205	9	384	0.0234	30	c.244 others(49): Show c.2441+6423_2441+6452dupATTTTATTTTATTTTATTTTATTTTA TTTT	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	2/20			chr12	TogoVar
FGF12_chr3_192134390_192732541	192158367	T T	TTTCTTTC others(23): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0055 a0001c0001t0007g0055	1	90	0.0111	30	c.427 others(49): Show c.427+12090_427+12091insGAAGAAAGAAAGAAAGAAAGAAAGAA AGAA	FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	5/5			chr3	TogoVar
FGF12_chr3_192134390_192732541	192279230	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0060 a0001c0001t0016g0060	1	90	0.0111	30	c.228 others(49): Show c.228+56130_228+56131insTATATATATATATATATATATATATA TATA	FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	4/5			chr3	TogoVar
FGF12_chr3_192134390_192732541	192512835	A A	AATAAATA others(23): Show AATAAATAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0008 a0001c0001t0015g0008	1	90	0.0111	30	c.14- others(49): Show c.14-152298_14-152297insATATATATATATATATATATATTTAT TTAT	FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	2/5			chr3	TogoVar

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