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	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
QRICH2_chr17_76269049_76313276	76292282	A A	ACCAGGTT others(23): Show ACCAGGTTGGACCAAACCACGCTGATCCACT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00741.hp2 HG00741.hp2	a0049 a0049	a0049c0052 a0049c0052	a0049c0052t0001 a0049c0052t0001	a0049c0052t0001g0299 a0049c0052t0001g0299	1	364	0.0028	30	c.244 others(39): Show c.2444_2445insAGTGGATCAGCGTGGTTTGGTCCAACCTGG	p.Gly others(43): Show p.Gly815_Ala816insValAspGlnArgGlyLeuValGlnProGly	QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	4/19	2722/5972	2444/5664	815/1887			chr17	TogoVar
QSOX2_chr9_136201333_136250812	136208291	T T	TGGAGGGT others(23): Show TGGAGGGTGCAGGGAGGGCCAAGGTGGGGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00438.hp1 others(29): Show HG00140.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00642.hp1 HG01168.hp2 HG01255.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp1 HG02615.hp2 HG02622.hp1 HG03669.hp1 HG03710.hp1 HG04115.hp1 NA18947.hp2 NA18952.hp2 NA18965.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18992.hp1 NA19078.hp2 NA19084.hp2 NA19090.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0001c0008 others(1): Show a0001c0002 a0001c0006 a0001c0008 a0002c0003	a0001c0002t0005 a0001c0002t0026 a0001c0002t0037 others(9): Show a0001c0002t0005 a0001c0002t0026 a0001c0002t0037 a0001c0002t0038 a0001c0002t0082 a0001c0002t0083 a0001c0002t0085 a0001c0002t0086 a0001c0006t0084 a0001c0008t0081 a0002c0003t0005 a0002c0003t0087	a0001c0002t0005g0040 a0001c0002t0005g0049 a0001c0002t0005g0052 others(28): Show a0001c0002t0005g0040 a0001c0002t0005g0049 a0001c0002t0005g0052 a0001c0002t0005g0064 a0001c0002t0005g0073 a0001c0002t0005g0090 a0001c0002t0005g0092 a0001c0002t0005g0095 a0001c0002t0005g0097 a0001c0002t0005g0099 a0001c0002t0005g0104 a0001c0002t0005g0105 a0001c0002t0005g0114 a0001c0002t0005g0130 a0001c0002t0005g0148 a0001c0002t0005g0161 a0001c0002t0026g0039 a0001c0002t0026g0146 a0001c0002t0026g0159 a0001c0002t0037g0020 a0001c0002t0038g0160 a0001c0002t0038g0162 a0001c0002t0082g0147 a0001c0002t0083g0122 a0001c0002t0085g0071 a0001c0002t0086g0126 a0001c0006t0084g0167 a0001c0008t0081g0047 a0002c0003t0005g0233 a0002c0003t0005g0250 a0002c0003t0087g0256	32	392	0.0816	30	c.43 others(39): Show c.436_*437insCCCCCCACCTTGGCCCTCCCTGCACCCTCC		QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	12/12				436		chr9	TogoVar
R3HCC1_chr8_23283108_23301279	23288560	T T	TCAGCCGA others(23): Show TCAGCCGAAGAATGACTTCGTCCACCGGATC	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	NA19075.hp1 NA19075.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0033 a0004c0014t0001g0033	1	472	0.0021	30	c.44_ others(35): Show c.44_45insAGAATGACTTCGTCCACCGGATCCAGCCGA	p.Glu others(41): Show p.Glu15_Asn16insGluTerLeuArgProProAspProAlaGlu	R3HCC1	ENSG00000104679.12	transcript	ENST00000265806.12	protein_coding	2/8	113/1573	45/1323	15/440		INFO_REALIGN_3_PRIME	chr8	TogoVar
R3HDM1_chr2_135526484_135730269	135537608	C C	CTTATTTT others(23): Show CTTATTTTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	232	0.0043	30	c.-25 others(49): Show c.-250+6014_-250+6043dupTTTTATTTTATTTTATTTTATTTTAT TTTA		R3HDM1	ENSG00000048991.18	transcript	ENST00000683871.1	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
R3HDM2_chr12_57248764_57436043	57260263	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAGAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	336	0.0030	30	c.213 others(49): Show c.2132-1205_2132-1204insTTTTTTCTTTTTTTTTTTTTTTTTTT TTTT		R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	19/23						chr12	TogoVar
R3HDML_chr20_44332043_44356238	44348482	C C	CTCCTTTC others(23): Show CTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA20752.hp1 HG02145.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0127 a0001c0001t0001g0086 a0001c0001t0001g0127	2	434	0.0046	30	c.630 others(47): Show c.630-2170_630-2141dupCTTTCCTTTCCTTTCCTTTCCTTTCCTT TC		R3HDML	ENSG00000101074.5	transcript	ENST00000217043.4	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB10_chr2_26029084_26142454	26114737	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	212	0.0047	30	c.327 others(47): Show c.327+4849_327+4850insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		RAB10	ENSG00000084733.11	transcript	ENST00000264710.5	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB11FIP2_chr10_117999916_118051941	118051234	A A	AAAATATA others(23): Show AAAATATAATAATAAAAATAATTAAATTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0217 a0001c0002t0043g0217	1	400	0.0025	30	c.-50 others(41): Show c.-5072_-5071insATTAATTTAATTATTTTTATTATTATATTT		RAB11FIP2	ENSG00000107560.12	transcript	ENST00000355624.8	protein_coding					4294		chr10	TogoVar
RAB11FIP3_chr16_420649_528011	492358	G G	GCCCCTCC others(23): Show GCCCCTCCCGGGGGACCCGAGGCCGTCCAGA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0172 a0001c0004t0008g0172	1	295	0.0034	30	c.126 others(49): Show c.1265+3358_1265+3359insCCCCTCCCGGGGGACCCGAGGCCGTC CAGA		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13						chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492460	G G	GGGAGACC others(23): Show GGGAGACCCGAGGCCGCCCAGGGCCCTTCCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	295	0.0034	30	c.126 others(49): Show c.1265+3462_1265+3463insAGACCCGAGGCCGCCCAGGGCCCTTC CCGG		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB18_chr10_27499304_27547239	27546498	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02818.hp2 NA18990.hp1 HG02809.hp1 HG02818.hp2 NA18990.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0002c0002t0008 a0001c0001t0003 a0001c0001t0004 a0002c0002t0008	a0001c0001t0003g0227 a0001c0001t0004g0019 a0002c0002t0008g0013 a0001c0001t0003g0227 a0001c0001t0004g0019 a0002c0002t0008g0013	3	410	0.0073	30	c.84 others(41): Show c.8447_*8448insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		RAB18	ENSG00000099246.18	transcript	ENST00000356940.11	protein_coding					4260		chr10	TogoVar
RAB20_chr13_110518066_110566722	110561766	G G	GCCCCGCC others(23): Show GCCCCGCCCCCGCCCCCGCCCCCGCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG04204.hp2 others(5): Show HG02145.hp2 HG02257.hp2 HG04204.hp2 NA18952.hp1 NA18983.hp2 NA18984.hp2 NA19056.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0003t0001 a0002c0004t0003	a0001c0001t0001g0238 a0001c0001t0001g0267 a0001c0001t0003g0397 others(5): Show a0001c0001t0001g0238 a0001c0001t0001g0267 a0001c0001t0003g0397 a0001c0002t0002g0002 a0001c0002t0002g0183 a0001c0002t0002g0239 a0001c0003t0001g0263 a0002c0004t0003g0262	8	426	0.0188	30	c.-24 others(39): Show c.-248_-247insGCGGGGGCGGGGGCGGGGGCGGGGGCGGGG		RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding					45		chr13	TogoVar
RAB27A_chr15_55197966_55294813	55210027	T T	TATATGTG others(23): Show TATATGTGTGTGTACATGTACATATATACAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0037 a0001c0001t0005g0037	1	320	0.0031	30	c.468 others(47): Show c.468-4352_468-4323dupGTGTATATATGTACATGTACACACACAT AT		RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6						chr15	TogoVar
RAB27A_chr15_55197966_55294813	55210071	C C	CATATACA others(23): Show CATATACATATATACACATATATGTGTGTAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0273 a0001c0001t0006g0273	1	320	0.0031	30	c.468 others(47): Show c.468-4396_468-4367dupATACACACATATATGTGTATATATGTAT AT		RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6						chr15	TogoVar
RAB27B_chr18_54823477_54900516	54850333	G G	GACATATA others(23): Show GACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02683.hp2 HG03704.hp1 others(7): Show HG01517.hp2 HG02683.hp2 HG03704.hp1 HG04184.hp2 NA18966.hp1 NA18970.hp1 NA18973.hp2 NA18985.hp1 NA19011.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0001 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0129 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0129 a0001c0001t0001g0153 a0001c0001t0001g0176 a0001c0001t0001g0183 a0001c0001t0001g0270 a0001c0001t0003g0152 a0001c0001t0010g0123	10	334	0.0299	30	c.-20 others(49): Show c.-20+21634_-20+21635insCATATATATATATATATATATATATA TATA		RAB27B	ENSG00000041353.10	transcript	ENST00000262094.10	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB27B_chr18_54823477_54900516	54850333	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp2 HG03491.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0164 a0001c0001t0013g0093 a0001c0001t0001g0164 a0001c0001t0013g0093	2	334	0.0060	30	c.-20 others(49): Show c.-20+21660_-20+21661insTATATATATATATATATATATATATA TATA		RAB27B	ENSG00000041353.10	transcript	ENST00000262094.10	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB2A_chr8_60511987_60628644	60605832	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG03139.hp2 HG01884.hp2 HG02258.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0327 a0001c0001t0005g0281 a0001c0001t0005g0309 a0001c0001t0004g0327 a0001c0001t0005g0281 a0001c0001t0005g0309	3	358	0.0084	30	c.475 others(49): Show c.475-12741_475-12740insTATATATATATATATATATATATATA TATA		RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
RAB2A_chr8_60511987_60628644	60605852	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0003 a0001c0001t0014g0003	1	358	0.0028	30	c.475 others(49): Show c.475-12727_475-12726insTATATATATATATATATATATATATA TAAA		RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
RAB2B_chr14_21454020_21481959	21454162	A A	AAAAAGAA others(23): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0168 a0001c0001t0011g0168	1	412	0.0024	30	c.70 others(41): Show c.7004_*7033dupCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT		RAB2B	ENSG00000129472.15	transcript	ENST00000397762.6	protein_coding					4857		chr14	TogoVar
RAB3C_chr5_58578075_58864394	58693347	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02486.hp1 HG02615.hp1 HG01109.hp2 HG02486.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0034 a0001c0001t0006 a0001c0001t0034	a0001c0001t0006g0051 a0001c0001t0006g0173 a0001c0001t0034g0104 a0001c0001t0006g0051 a0001c0001t0006g0173 a0001c0001t0034g0104	3	220	0.0136	30	c.253 others(49): Show c.253-32640_253-32639insTATATATATATACACATATATATATA TATA		RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58693353	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0128 a0001c0001t0051g0128	1	220	0.0046	30	c.253 others(49): Show c.253-32640_253-32639insTATATATATATATATATACACATATA TATA		RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58693353	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0192 a0001c0001t0023g0192	1	220	0.0046	30	c.253 others(49): Show c.253-32640_253-32639insTATATATATATATATATATACATATA TATA		RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58845612	A A	ATATATAT others(23): Show ATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03139.hp2 HG00735.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0018 a0001c0001t0004 a0001c0001t0018	a0001c0001t0004g0188 a0001c0001t0018g0208 a0001c0001t0004g0188 a0001c0001t0018g0208	2	220	0.0091	30	c.497 others(47): Show c.497-5551_497-5550insATATATATATATATATATGTGTGTGTGT GT		RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58845612	A A	ATATATAT others(23): Show ATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG03225.hp2 HG02615.hp2 HG02622.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0045 a0001c0001t0052 a0001c0001t0002 a0001c0001t0045 a0001c0001t0052	a0001c0001t0002g0002 a0001c0001t0045g0132 a0001c0001t0052g0126 a0001c0001t0002g0002 a0001c0001t0045g0132 a0001c0001t0052g0126	3	220	0.0136	30	c.497 others(47): Show c.497-5551_497-5550insATATATATATATATATGTGTGTGTGTGT GT		RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3GAP1_chr2_135047292_135175710	135048373	A A	ACACACTC others(23): Show ACACACTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0005 a0006c0013t0005	a0006c0013t0005g0004 a0006c0013t0005g0004	1	280	0.0036	30	c.-39 others(41): Show c.-3935_-3934insCACACTCTCTCTCTCTCTCTCTCTCTCTCT		RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding					3918		chr2	TogoVar
RAB3GAP1_chr2_135047292_135175710	135117504	T T	TCTTCTTC others(23): Show TCTTCTTCTGCTTCTGCTTCTTCTGCTTCTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0232	1	280	0.0036	30	c.648 others(47): Show c.648+2137_648+2138insGCTTCTTCTGCTTCTGCTTCTTCTGCTT CT		RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding	7/23					INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB3IP_chr12_69733860_69828199	69817653	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0141 a0002c0004t0141	a0002c0004t0141g0266 a0002c0004t0141g0266	1	402	0.0025	30	c.22 others(41): Show c.2212_*2241dupACACACACACACACACACACACACACACAC		RAB3IP	ENSG00000127328.22	transcript	ENST00000247833.12	protein_coding	11/11				2242	INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB40C_chr16_585066_634268	601815	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01975.hp2 HG00639.hp1 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0326 a0001c0001t0002g0258 a0001c0001t0002g0326	2	350	0.0057	30	c.142 others(49): Show c.142+11383_142+11412dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB5B_chr12_55969078_56001683	55996003	A A	ATATATAT others(23): Show ATATATATATATTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0105 a0001c0001t0088g0105	1	382	0.0026	30	c.37 others(41): Show c.3792_*3793insATATATATATTTTTTTTTTTTTTTTTTTTT		RAB5B	ENSG00000111540.16	transcript	ENST00000360299.10	protein_coding	6/6				3793	INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG02074.hp2 others(1): Show HG00099.hp2 HG00558.hp1 HG02074.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0239 a0001c0001t0001g0272 others(1): Show a0001c0001t0001g0054 a0001c0001t0001g0239 a0001c0001t0001g0272 a0001c0001t0001g0295	4	398	0.0101	30	c.219 others(45): Show c.219-436_219-407dupACACACACACACACACACACACACACACAC		RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(23): Show TACATACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	398	0.0025	30	c.219 others(45): Show c.219-442_219-441insTACACACACACACACACACACACACACACA		RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(23): Show TACATACATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01169.hp1 HG03041.hp2 HG00323.hp1 HG01169.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0021 a0001c0001t0001g0097 a0001c0001t0003g0021 a0001c0001t0001g0021 a0001c0001t0001g0097 a0001c0001t0003g0021	3	398	0.0075	30	c.219 others(45): Show c.219-442_219-441insTACATACACACACACACACACACACACACA		RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(23): Show TACATACATACATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18963.hp2 NA18522.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0182 a0001c0001t0001g0058 a0001c0001t0001g0182	2	398	0.0050	30	c.219 others(45): Show c.219-442_219-441insTACATACATACACACACACACACACACACA		RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(23): Show TACATACATACATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01975.hp2 HG02027.hp1 others(11): Show HG01358.hp1 HG01975.hp2 HG02027.hp1 HG02071.hp1 HG02148.hp2 HG02273.hp1 HG02717.hp1 HG03669.hp2 NA18522.hp2 NA18612.hp1 NA18957.hp2 NA18987.hp2 NA19009.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0081 a0001c0001t0001g0087 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0237 a0001c0001t0005g0061	14	398	0.0352	30	c.219 others(45): Show c.219-442_219-441insTACATACATATACACACACACACACACACA		RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609256	C C	CACACACA others(23): Show CACACACACACACACACACACACACACACTA	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18962.hp2 HG04184.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0055 a0001c0001t0002g0124 a0001c0001t0001g0055 a0001c0001t0002g0124	2	398	0.0050	30	c.219 others(45): Show c.219-345_219-344insACACACACACACACACACACACACACACTA		RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3						chr20	TogoVar
RAB6A_chr11_73670638_73766074	73685588	G G	GAAAGTCT others(23): Show GAAAGTCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01256.hp1 HG01496.hp1 others(10): Show HG00323.hp1 HG01256.hp1 HG01496.hp1 HG01515.hp1 HG02523.hp2 HG02895.hp1 HG02897.hp1 NA18974.hp1 NA18979.hp2 NA18994.hp2 NA19004.hp1 NA19070.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0161 others(10): Show a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0281 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0008g0105	13	354	0.0367	30	c.496 others(47): Show c.496-5869_496-5868insAAAAAAAAAAAAAAAAAAAAAAAAGACT TT		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	6/7						chr11	TogoVar
RAB6A_chr11_73670638_73766074	73722305	G G	GTATGTGT others(23): Show GTATGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03195.hp1 HG02965.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0004 a0001c0001t0009g0005 a0001c0001t0009g0004 a0001c0001t0009g0005	2	354	0.0057	30	c.130 others(47): Show c.130-1407_130-1406insTATATATATATATATACACACACACACA TA		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	2/7						chr11	TogoVar
RAB6A_chr11_73670638_73766074	73722305	G G	GTATGTGT others(23): Show GTATGTGTGTGTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0007 a0001c0001t0009g0007	1	354	0.0028	30	c.130 others(47): Show c.130-1407_130-1406insTATATATATACACACACACACACACACA TA		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	2/7						chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	354	0.0028	30	c.71- others(45): Show c.71-8462_71-8461insATATATATATATATATATATATATATTTTT		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7						chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739304	T T	TATATATA others(23): Show TATATATATACACATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	354	0.0028	30	c.71- others(45): Show c.71-8482_71-8481insTTATATATATATATATATGTGTATATATAT		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7						chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739304	T T	TATATATA others(23): Show TATATATATATACATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	354	0.0028	30	c.71- others(45): Show c.71-8482_71-8481insTTATATATATATATATATGTATATATATAT		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7						chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739304	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03834.hp1 NA18951.hp1 others(5): Show HG01358.hp1 HG03834.hp1 NA18951.hp1 NA18968.hp2 NA18970.hp2 NA18975.hp1 NA18994.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0148 others(5): Show a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0165 a0001c0001t0001g0174 a0001c0001t0001g0186 a0001c0001t0001g0196	8	354	0.0226	30	c.71- others(45): Show c.71-8482_71-8481insTTATATATATATATATATATATATATATAT		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7						chr11	TogoVar
RAB7A_chr3_128721183_128819798	128809936	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02897.hp2 HG03139.hp2 others(1): Show HG02056.hp1 HG02897.hp2 HG03139.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0147 a0001c0001t0001g0229 a0001c0001t0002g0063 others(1): Show a0001c0001t0001g0147 a0001c0001t0001g0229 a0001c0001t0002g0063 a0001c0001t0003g0123	4	314	0.0127	30	c.528 others(47): Show c.528+2266_528+2295dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
RABEP1_chr17_5277284_5391340	5310301	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0350 a0001c0012t0002g0350	1	352	0.0028	30	c.163 others(47): Show c.163+1497_163+1498insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr17	TogoVar
RABEP2_chr16_28899421_28930238	28929885	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	366	0.0027	30	c.-47 others(41): Show c.-4723_-4722insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT		RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding					4648		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929891	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	366	0.0027	30	c.-47 others(41): Show c.-4729_-4728insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT		RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding					4654		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	366	0.0027	30	c.-47 others(41): Show c.-4760_-4731dupCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT		RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding					4656		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TATAGAGA others(23): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	366	0.0027	30	c.-47 others(41): Show c.-4731_-4730insCTCTCTCTCTCTCTCTCTCTCTCTCTCTAT		RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding					4656		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TATATAGA others(23): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0265 a0002c0002t0001g0265	1	366	0.0027	30	c.-47 others(41): Show c.-4731_-4730insCTCTCTCTCTCTCTCTCTCTCTCTCTATAT		RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding					4656		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TATATATA others(23): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0268 a0002c0002t0001g0268	1	366	0.0027	30	c.-47 others(41): Show c.-4731_-4730insCTCTCTCTCTCTCTCTCTCTCTCTATATAT		RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding					4656		chr16	TogoVar

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