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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FOXN3_chr14_89151177_89422233	89299018	C C	CCAACAAT others(26): Show CCAACAATGCCAACAATGCCAACTTCAATGCCAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02738.hp1 HG02257.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0025 a0001c0001t0021g0042 a0001c0001t0021g0025 a0001c0001t0021g0042	2	230	0.0087	33	c.681 others(52): Show c.681-18005_681-18004insTTGGCATTGAAGTTGGCATTGTTGGC ATTGTTG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	3/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361263	A A	ACCACCAC others(26): Show ACCACCACCACCACTACCACCTCCAGCACCACCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	230	0.0044	33	c.544 others(52): Show c.544-10456_544-10455insAGGTGGTGCTGGAGGTGGTAGTGGTG GTGGTGG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361263	A A	ACCACCTC others(26): Show ACCACCTCCACCACCACCACCTCCAGCACCACCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02886.hp2 HG00558.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0199 a0001c0001t0016g0083 a0001c0001t0001g0199 a0001c0001t0016g0083	2	230	0.0087	33	c.544 others(52): Show c.544-10456_544-10455insAGGTGGTGCTGGAGGTGGTGGTGGTG GAGGTGG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361263	A A	ACCACCTC others(26): Show ACCACCTCCACCACTACCACCTCCAGCACCACCT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0050 a0001c0001t0008g0050	1	230	0.0044	33	c.544 others(52): Show c.544-10456_544-10455insAGGTGGTGCTGGAGGTGGTAGTGGTG GAGGTGG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361516	T T	TCCAGCAC others(26): Show TCCAGCACCACCACCACCACCACTACCACCTCCA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	230	0.0044	33	c.544 others(52): Show c.544-10709_544-10708insTGGAGGTGGTAGTGGTGGTGGTGGTG GTGCTGG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361531	A A	ACCACCAC others(26): Show ACCACCACCTTCAGCACCACCTCCAGCACCACCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	230	0.0044	33	c.544 others(52): Show c.544-10724_544-10723insAGGTGGTGCTGGAGGTGGTGCTGAAG GTGGTGG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361660	T T	TCCACCAC others(26): Show TCCACCACTACCACCTCCACCACCACCACCTCCA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02273.hp2 HG01255.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0141 a0001c0001t0007g0144 a0001c0001t0003g0141 a0001c0001t0007g0144	2	230	0.0087	33	c.544 others(52): Show c.544-10853_544-10852insTGGAGGTGGTGGTGGTGGAGGTGGTA GTGGTGG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361781	G G	GCACCACC others(26): Show GCACCACCACCACCACCACCTCCAGCACCACCTC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	230	0.0044	33	c.544 others(52): Show c.544-10974_544-10973insGAGGTGGTGCTGGAGGTGGTGGTGGT GGTGGTG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361795	A A	AGCACCAC others(26): Show AGCACCACCACCACCACCACCTCCAGCACCACCT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0150 a0001c0001t0009g0150	1	230	0.0044	33	c.544 others(52): Show c.544-10988_544-10987insAGGTGGTGCTGGAGGTGGTGGTGGTG GTGGTGC	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361942	A A	AGCACCAC others(26): Show AGCACCACCTCCACCACCACCACCTCCACCACCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0154 a0001c0001t0080g0154	1	230	0.0044	33	c.544 others(52): Show c.544-11135_544-11134insAGGTGGTGGAGGTGGTGGTGGTGGAG GTGGTGC	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362683	T T	TCCACCAC others(26): Show TCCACCACCACCTCCACCACCATCTCCACCACCA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0037 a0001c0004t0037	a0001c0004t0037g0013 a0001c0004t0037g0013	1	230	0.0044	33	c.544 others(52): Show c.544-11876_544-11875insTGGTGGTGGAGATGGTGGTGGAGGTG GTGGTGG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362683	T T	TCCAGCAC others(26): Show TCCAGCACCACCTCCAGCACCACCTCCACCACCA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0223 a0001c0001t0039g0223	1	230	0.0044	33	c.544 others(52): Show c.544-11876_544-11875insTGGTGGTGGAGGTGGTGCTGGAGGTG GTGCTGG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXQ1_chr6_1307098_1319758	1317094	C C	CCCTCCAG others(26): Show CCCTCCAGCCTACCCCTCCCCCCACCCATTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01515.hp1 HG01884.hp1 others(5): Show HG00621.hp1 HG01515.hp1 HG01884.hp1 HG04199.hp1 HG04204.hp1 NA18947.hp2 NA18960.hp2 NA19088.hp2	a0004 a0014 a0004 a0014	a0004c0003 a0004c0006 a0014c0019 a0004c0003 a0004c0006 a0014c0019	a0004c0003t0001 a0004c0006t0001 a0014c0019t0001 a0004c0003t0001 a0004c0006t0001 a0014c0019t0001	a0004c0003t0001g0000 a0004c0006t0001g0000 a0014c0019t0001g0000 a0004c0003t0001g0000 a0004c0006t0001g0000 a0014c0019t0001g0000	8	406	0.0197	33	c.31 others(44): Show c.3178_*3179insCCTCCAGCCTACCCCTCCCCCCACCCATTCCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2337		chr6	TogoVar
FPR2_chr19_51756180_51775531	51775377	C C	CTACTGTG others(26): Show CTACTGTGTTATTTGCAATATTTTCTTTTTACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	472	0.0021	33	c.56 others(44): Show c.5663_*5664insTACTGTGTTATTTGCAATATTTTCTTTTTACCT	FPR2	ENSG00000171049.9	transcript	ENST00000340023.7	protein_coding		4847		chr19	TogoVar
FREM1_chr9_14732152_14915428	14759518	C C	CAATAATA others(26): Show CAATAATAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01167.hp1 HG01257.hp2 others(9): Show HG00733.hp2 HG01167.hp1 HG01257.hp2 HG01258.hp1 HG02027.hp2 HG02132.hp2 HG02717.hp1 HG02965.hp1 HG02976.hp1 NA18977.hp1 NA18978.hp2 NA19077.hp1	a0002 a0004 a0008 others(6): Show a0002 a0004 a0008 a0011 a0028 a0036 a0043 a0054 a0085	a0002c0001 a0002c0005 a0004c0004 others(7): Show a0002c0001 a0002c0005 a0004c0004 a0008c0006 a0011c0201 a0028c0157 a0036c0135 a0043c0216 a0054c0084 a0085c0202	a0002c0001t0002 a0002c0005t0001 a0004c0004t0001 others(7): Show a0002c0001t0002 a0002c0005t0001 a0004c0004t0001 a0008c0006t0002 a0011c0201t0002 a0028c0157t0001 a0036c0135t0001 a0043c0216t0012 a0054c0084t0001 a0085c0202t0002	a0002c0001t0002g0276 a0002c0001t0002g0277 a0002c0005t0001g0170 others(9): Show a0002c0001t0002g0276 a0002c0001t0002g0277 a0002c0005t0001g0170 a0004c0004t0001g0017 a0004c0004t0001g0321 a0008c0006t0002g0179 a0011c0201t0002g0334 a0028c0157t0001g0096 a0036c0135t0001g0184 a0043c0216t0012g0053 a0054c0084t0001g0003 a0085c0202t0002g0137	12	346	0.0347	33	c.533 others(50): Show c.5334+253_5334+254insATTATTATTATTATTATTATTATTATTA TTATT	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	28/36			chr9	TogoVar
FRG2C_chr3_75659328_75672173	75671896	A A	ACTGAGAG others(26): Show ACTGAGAGAGGAGAGAGGAGAGAGCAGTGGAACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	410	0.0024	33	c.58 others(44): Show c.5855_*5856insCTGAGAGAGGAGAGAGGAGAGAGCAGTGGAACG	FRG2C	ENSG00000172969.8	transcript	ENST00000308062.8	protein_coding		4724		chr3	TogoVar
FRMD3_chr9_83239622_83543401	83407847	C C	CTCTCTCT others(26): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCATCTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0157 a0001c0002t0028g0157	1	242	0.0041	33	c.148 others(52): Show c.148-18140_148-18139insAAGATGAGAGAGAGAGAGAGAGAGAG AGAGAGA	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD4A_chr10_13638706_14335924	13714033	T T	TATAAAAT others(26): Show TATAAAATATATATTTTATATACATATATATAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(40): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01981.hp1 HG02055.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02738.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 NA19030.hp2 NA19065.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0019 a0001c0001t0029 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0018 a0001c0011t0002 a0002c0004t0002	a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0041 others(40): Show a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0062 a0001c0001t0002g0007 a0001c0001t0002g0054 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0100 a0001c0001t0002g0110 a0001c0001t0002g0128 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0122 a0001c0001t0004g0016 a0001c0001t0004g0025 a0001c0001t0004g0073 a0001c0001t0004g0130 a0001c0001t0005g0023 a0001c0001t0005g0119 a0001c0001t0005g0123 a0001c0001t0006g0044 a0001c0001t0007g0060 a0001c0001t0008g0022 a0001c0001t0008g0036 a0001c0001t0008g0077 a0001c0001t0008g0106 a0001c0001t0009g0047 a0001c0001t0009g0055 a0001c0001t0009g0098 a0001c0001t0011g0090 a0001c0001t0019g0064 a0001c0001t0029g0133 a0001c0002t0002g0049 a0001c0002t0004g0108 a0001c0003t0001g0071 a0001c0003t0018g0011 a0001c0011t0002g0101 a0002c0004t0002g0095	43	134	0.3209	33	c.760 others(50): Show c.760-6921_760-6920insTTTATATATATGTATATAAAATATATAT TTTAT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	12/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14097988	T T	TAAATTAT others(26): Show TAAATTATAGATTATATATAAATTATATATTATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02723.hp2 HG02809.hp2 others(1): Show HG02258.hp1 HG02723.hp2 HG02809.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012	a0001c0001t0001g0129 a0001c0001t0004g0130 a0001c0001t0009g0098 others(1): Show a0001c0001t0001g0129 a0001c0001t0004g0130 a0001c0001t0009g0098 a0001c0001t0012g0069	4	134	0.0299	33	c.45+ others(52): Show c.45+232037_45+232069dupTATAATATATAATTTATATATAATCT ATAATTT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14097999	T T	TTATATAT others(26): Show TTATATATAAATTATATATTATATAAATTATAGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01346.hp1 HG01358.hp2 others(3): Show HG01123.hp2 HG01346.hp1 HG01358.hp2 HG03688.hp2 NA18971.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0015 a0001c0002t0002	a0001c0001t0001g0009 a0001c0001t0001g0050 a0001c0001t0002g0007 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0050 a0001c0001t0002g0007 a0001c0001t0007g0015 a0001c0001t0015g0037 a0001c0002t0002g0049	6	134	0.0448	33	c.45+ others(52): Show c.45+232026_45+232058dupTCTATAATTTATATAATATATAATTT ATATATA	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4B_chr3_69163782_69391088	69263270	T T	TAAATAAA others(26): Show TAAATAAATAAAAAAGCAAATGGTAGCAGACAGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	224	0.0045	33	c.502 others(52): Show c.502-13204_502-13172dupTCTGTCTGCTACCATTTGCTTTTTTA TTTATTT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69303172	C C	CACGGGTG others(26): Show CACGGGTGTGGCGGCAGACACATGTAGTCCCAGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG00639.hp1 others(27): Show HG00280.hp1 HG00609.hp1 HG00639.hp1 HG01071.hp2 HG01074.hp1 HG01167.hp2 HG01255.hp2 HG01257.hp1 HG01346.hp1 HG01952.hp2 HG01981.hp2 HG02015.hp1 HG02145.hp2 HG02148.hp1 HG02602.hp2 HG02647.hp1 HG02698.hp2 HG02897.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG04184.hp2 NA18990.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0013	a0001c0001 a0001c0008 a0001c0009 others(6): Show a0001c0001 a0001c0008 a0001c0009 a0002c0002 a0002c0014 a0003c0003 a0003c0005 a0004c0004 a0013c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0025 a0001c0001t0029 a0001c0001t0048 a0001c0001t0051 a0001c0008t0028 a0001c0009t0001 a0001c0009t0024 a0002c0002t0002 a0002c0002t0027 a0002c0014t0001 a0003c0003t0001 a0003c0003t0003 a0003c0003t0008 a0003c0003t0037 a0003c0005t0009 a0004c0004t0038 a0013c0021t0022	a0001c0001t0001g0087 a0001c0001t0001g0123 a0001c0001t0001g0148 others(27): Show a0001c0001t0001g0087 a0001c0001t0001g0123 a0001c0001t0001g0148 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0002g0027 a0001c0001t0002g0172 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0010g0157 a0001c0001t0025g0176 a0001c0001t0029g0002 a0001c0001t0048g0155 a0001c0001t0051g0179 a0001c0008t0028g0001 a0001c0009t0001g0082 a0001c0009t0024g0212 a0001c0009t0024g0213 a0002c0002t0002g0145 a0002c0002t0002g0192 a0002c0002t0027g0135 a0002c0014t0001g0014 a0003c0003t0001g0197 a0003c0003t0003g0122 a0003c0003t0003g0144 a0003c0003t0008g0152 a0003c0003t0037g0175 a0003c0005t0009g0207 a0004c0004t0038g0118 a0013c0021t0022g0162	30	224	0.1339	33	c.324 others(48): Show c.324-770_324-738dupACTGGGACTACATGTGTCTGCCGCCACACC CGT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	3/22			chr3	TogoVar
FRMD5_chr15_43865764_44200271	43914723	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	146	0.0069	33	c.329 others(50): Show c.329+4735_329+4736insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	4/13			chr15	TogoVar
FRMD5_chr15_43865764_44200271	44131763	G G	GAATGGTG others(26): Show GAATGGTGGTTGCCAGAGTGTGGTGGGAGAATAA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	1	146	0.0069	33	c.102 others(52): Show c.102+63189_102+63190insTTATTCTCCCACCACACTCTGGCAAC CACCATT	FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	1/13			chr15	TogoVar
FRMD5_chr15_43865764_44200271	44131766	C C	CGGTGGTT others(26): Show CGGTGGTTGCCAGAGTGTGGTGGGAGAATAAAAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00621.hp1 others(78): Show HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01255.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02818.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG04115.hp2 NA18522.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18951.hp1 NA18959.hp2 NA18960.hp1 NA18966.hp2 NA18967.hp1 NA18971.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp2 NA19004.hp1 NA19030.hp1 NA19043.hp2 NA19063.hp1 NA19084.hp1 NA19084.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 others(78): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0114 a0001c0001t0002g0048 a0001c0001t0003g0011 a0001c0001t0003g0059 a0001c0001t0003g0071 a0001c0001t0003g0084 a0001c0001t0006g0049 a0001c0001t0009g0001 a0001c0001t0014g0081 a0001c0001t0015g0020 a0001c0001t0017g0007 a0001c0001t0019g0004 a0001c0002t0001g0042 a0001c0002t0001g0062 a0001c0002t0001g0072 a0001c0002t0001g0140 a0001c0002t0002g0017 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0047 a0001c0002t0002g0050 a0001c0002t0002g0054 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0067 a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0026 a0001c0002t0003g0039 a0001c0002t0003g0052 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0003g0063 a0001c0002t0003g0068 a0001c0002t0003g0076 a0001c0002t0003g0080 a0001c0002t0007g0061	81	146	0.5548	33	c.102 others(52): Show c.102+63154_102+63186dupATTTTATTCTCCCACCACACTCTGGC AACCACC	FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	1/13			chr15	TogoVar
FRMPD4_chrX_12133473_12729523	12305725	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02965.hp1 HG03453.hp1 others(1): Show HG01106.hp1 HG02965.hp1 HG03453.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0004 others(1): Show a0001c0001 a0001c0006 a0002c0004 a0002c0012	a0001c0001t0002 a0001c0006t0001 a0002c0004t0001 others(1): Show a0001c0001t0002 a0001c0006t0001 a0002c0004t0001 a0002c0012t0001	a0001c0001t0002g0028 a0001c0006t0001g0016 a0002c0004t0001g0007 others(1): Show a0001c0001t0002g0028 a0001c0006t0001g0016 a0002c0004t0001g0007 a0002c0012t0001g0088	4	174	0.0230	33	c.41+ others(52): Show c.41+166735_41+166736insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRYL_chr4_48492357_48785279	48645124	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	282	0.0036	33	c.-80 others(52): Show c.-80-10635_-80-10634insTATATATATATATATATATATATATA TATATAT	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
FRYL_chr4_48492357_48785279	48659918	G G	GAGAAGAA others(26): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0223 a0001c0003t0003g0223	1	282	0.0036	33	c.-81 others(52): Show c.-81+24722_-81+24754dupTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCT	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
FSCN2_chr17_81523377_81542130	81531324	G G	GTGGTGGT others(26): Show GTGGTGGTGGTGGTGATGGTGATGATGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0063 a0001c0002t0002g0063	1	432	0.0023	33	c.826 others(50): Show c.826+1978_826+1979insGTGATGGTGATGATGGTGGTGATGGTGG TGGTG	FSCN2	ENSG00000186765.12	transcript	ENST00000417245.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
FSD1L_chr9_105443034_105557433	105533416	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03704.hp2 HG00140.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0168 a0001c0001t0005g0169 a0001c0001t0005g0168 a0001c0001t0005g0169	2	380	0.0053	33	c.102 others(52): Show c.1026-1053_1026-1052insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	FSD1L	ENSG00000106701.13	transcript	ENST00000481272.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
FSTL4_chr5_133191455_133617541	133517447	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18991.hp1 NA18991.hp2 HG02738.hp1 NA18991.hp1 NA18991.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0075 a0001c0001t0001g0162 a0002c0002t0002g0142 a0001c0001t0001g0075 a0001c0001t0001g0162 a0002c0002t0002g0142	3	176	0.0171	33	c.160 others(52): Show c.160+49738_160+49739insATATATATATATATATATATATTTTT TTTTTTT	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15			chr5	TogoVar
FSTL4_chr5_133191455_133617541	133517447	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18963.hp2 HG03540.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0003 a0001c0001t0008g0123 a0001c0001t0003g0003 a0001c0001t0008g0123	2	176	0.0114	33	c.160 others(52): Show c.160+49738_160+49739insATATATATATATATATATATATATTT TTTTTTT	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15			chr5	TogoVar
FSTL4_chr5_133191455_133617541	133517447	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18945.hp1 HG04115.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0139 a0001c0001t0001g0028 a0001c0001t0001g0139	2	176	0.0114	33	c.160 others(52): Show c.160+49738_160+49739insATATATATATATATATATATATATAT TTTTTTT	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15			chr5	TogoVar
FSTL4_chr5_133191455_133617541	133517447	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03516.hp1 HG03704.hp2 HG00544.hp2 HG03516.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0009t0001 a0001c0001t0001 a0001c0001t0003 a0001c0009t0001	a0001c0001t0001g0134 a0001c0001t0003g0019 a0001c0009t0001g0079 a0001c0001t0001g0134 a0001c0001t0003g0019 a0001c0009t0001g0079	3	176	0.0171	33	c.160 others(52): Show c.160+49738_160+49739insATATATATATATATATATATATATAT ATTTTTT	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15			chr5	TogoVar
FSTL4_chr5_133191455_133617541	133517447	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp2 NA18941.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0104 a0001c0001t0001g0044 a0001c0001t0001g0104	2	176	0.0114	33	c.160 others(52): Show c.160+49738_160+49739insATATATATATATATATATATATATAT ATATTTT	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15			chr5	TogoVar
FTO_chr16_53699156_54126941	53950155	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	194	0.0052	33	c.136 others(54): Show c.1364+16070_1364+16071insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	FTO	ENSG00000140718.22	transcript	ENST00000471389.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
FTSJ3_chr17_63814433_63832663	63829616	C C	CCTTATCT others(26): Show CCTTATCTCCCTGCACTGTGTCTTCACAGCAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0001 a0006c0020t0001	a0006c0020t0001g0060 a0006c0020t0001g0060	1	372	0.0027	33	c.-26 others(44): Show c.-2624_-2592dupCACTGCTGTGAAGACACAGTGCAGGGAGATAAG	FTSJ3	ENSG00000108592.17	transcript	ENST00000427159.7	protein_coding		1954		chr17	TogoVar
FUT10_chr8_33365824_33478146	33380017	A A	ATATATAT others(26): Show ATATATATATACTATATATATACTATATATATAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02155.hp2 others(22): Show HG01884.hp1 HG02109.hp1 HG02155.hp2 HG02698.hp2 HG02738.hp1 HG02818.hp2 HG02896.hp2 HG03486.hp1 HG03834.hp2 HG06807.hp2 NA18940.hp1 NA18943.hp2 NA18946.hp1 NA18952.hp1 NA18959.hp1 NA18961.hp2 NA18965.hp2 NA18977.hp2 NA18984.hp1 NA18994.hp2 NA19002.hp1 NA19060.hp2 NA19062.hp2 NA19066.hp1 NA19091.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0003 a0005c0014 others(1): Show a0001c0001 a0001c0003 a0005c0014 a0006c0011	a0001c0001t0001 a0001c0001t0012 a0001c0001t0017 others(3): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0017 a0001c0003t0003 a0005c0014t0003 a0006c0011t0001	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0258 others(22): Show a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0258 a0001c0001t0012g0032 a0001c0001t0017g0070 a0001c0003t0003g0030 a0001c0003t0003g0053 a0001c0003t0003g0055 a0001c0003t0003g0056 a0001c0003t0003g0058 a0001c0003t0003g0059 a0001c0003t0003g0062 a0001c0003t0003g0063 a0001c0003t0003g0083 a0001c0003t0003g0086 a0001c0003t0003g0087 a0001c0003t0003g0095 a0001c0003t0003g0099 a0001c0003t0003g0100 a0001c0003t0003g0110 a0001c0003t0003g0117 a0001c0003t0003g0125 a0001c0003t0003g0186 a0005c0014t0003g0130 a0006c0011t0001g0067	25	268	0.0933	33	c.121 others(52): Show c.1213-7214_1213-7213insCTATATATATAGTATATATATAGTAT ATATATA	FUT10	ENSG00000172728.16	transcript	ENST00000327671.10	protein_coding	4/4			chr8	TogoVar
FUT8_chr14_65407730_65749121	65474441	G G	GAAAAAAA others(26): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	374	0.0027	33	c.-22 others(54): Show c.-228+18739_-228+18740insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FXYD5_chr19_35149735_35174881	35161221	A A	ACACACAC others(26): Show ACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	462	0.0022	33	c.292 others(48): Show c.292+420_292+421insCACACACACACACACACACACACACACACA CAC	FXYD5	ENSG00000089327.15	transcript	ENST00000392219.7	protein_coding	5/8			chr19	TogoVar
FYTTD1_chr3_197744883_197792596	197792577	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG03540.hp1 HG01099.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0164 a0001c0001t0022g0127 a0001c0001t0001g0164 a0001c0001t0022g0127	2	256	0.0078	33	c.10 others(46): Show c.10668_*10669insATATATATATATATATATATATATATATATAT A	FYTTD1	ENSG00000122068.13	transcript	ENST00000241502.9	protein_coding		4982		chr3	TogoVar
FZR1_chr19_3501311_3543334	3503736	C C	CAGGGGCC others(26): Show CAGGGGCCTGCTACCATGCCCGGCTAATTTTTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	314	0.0032	33	c.-27 others(44): Show c.-2773_-2772insAGGGGCCTGCTACCATGCCCGGCTAATTTTTGT	FZR1	ENSG00000105325.15	transcript	ENST00000441788.7	protein_coding		2574		chr19	TogoVar
GAA_chr17_80096581_80124881	80120347	A A	ATCCTCTC others(26): Show ATCCTCTCCCTCCCCTCCCCTCCTCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0081 a0003c0003t0002g0081	1	416	0.0024	33	c.10 others(44): Show c.1016_*1017insTCCTCTCCCTCCCCTCCCCTCCTCCCCTCCCCT	GAA	ENSG00000171298.14	transcript	ENST00000302262.8	protein_coding		467		chr17	TogoVar
GAB2_chr11_78210293_78422820	78318369	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0188 a0001c0009t0004g0188	1	288	0.0035	33	c.76- others(50): Show c.76-37469_76-37468insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78407671	A A	AAGAAAGA others(26): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGATGGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0131 a0001c0005t0013g0131	1	288	0.0035	33	c.75+ others(48): Show c.75+9974_75+9975insGCCATCTCTTTCTTTCTTTCTTTCTTTCTT TCT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GABBR2_chr9_98283109_98713935	98436315	A A	ATATATAT others(26): Show ATATATATCCATAAATATATATATATATATCCAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0017 a0001c0013t0017	a0001c0013t0017g0053 a0001c0013t0017g0053	1	164	0.0061	33	c.123 others(54): Show c.1236+17665_1236+17666insATGGATATATATATATATATTTAT GGATATATA	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABRB1_chr4_47026567_47431447	47125559	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG04199.hp2 HG01081.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0003t0001 a0001c0001t0009 a0001c0003t0001	a0001c0001t0009g0031 a0001c0003t0001g0091 a0001c0001t0009g0031 a0001c0003t0001g0091	2	158	0.0127	33	c.241 others(52): Show c.241-35676_241-35675insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB3_chr15_26538552_26778066	26546004	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAACAAAAAAAACTCAGGTGGTAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0138 a0001c0001t0030g0138	1	204	0.0049	33	c.17 others(44): Show c.1788_*1789insCTACCACCTGAGTTTTTTTTGTTTTTTTTTTTT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	9/9	1788		chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554190	A A	ATAAAGTA others(26): Show ATAAAGTATATATATATATAAAGTATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0017 a0001c0001t0028g0017	1	204	0.0049	33	c.108 others(52): Show c.1081-6057_1081-6056insATATATATATACTTTATATATATATA TACTTTA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRG3_chr15_26966181_27546984	27306145	T T	TATATAAT others(26): Show TATATAATATAAACCTATATGTTTATATATAAAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0065 a0001c0003t0001g0065	1	92	0.0109	33	c.271 others(52): Show c.271-20650_271-20618dupCTATATGTTTATATATAAACATATAA TATAAAC	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar

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Search Results (Total: 4928 hits)