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
PXDN_chr2_1626887_1749515	1658067	T T	TCCCCCTC others(31): Show TCCCCCTCTCTCTCCCTCCCCCTCTCTCTCTCCCTCCCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA20129.hp1 HG03453.hp1 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0232 a0001c0006t0004g0284 a0001c0006t0004g0232 a0001c0006t0004g0284	2	322	0.0062	38	c.183 others(57): Show c.1837+2813_1837+2814insGGGGAGGGAGAGAGAGAGGGGGAGGG AGAGAGAGGGGG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	14/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1720345	C C	CAGAGAGA others(31): Show CAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02970.hp2 HG02258.hp2 HG02970.hp2	a0001 a0003 a0001 a0003	a0001c0016 a0003c0018 a0001c0016 a0003c0018	a0001c0016t0007 a0003c0018t0005 a0001c0016t0007 a0003c0018t0005	a0001c0016t0007g0064 a0003c0018t0005g0048 a0001c0016t0007g0064 a0003c0018t0005g0048	2	322	0.0062	38	c.200 others(57): Show c.200+23910_200+23911insCTCTCTCTCTGCATCCCTCCCTCCCT CTCTCTCTCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PYDC2_chr3_191456163_191466456	191463020	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	434	0.0023	38	c.15 others(49): Show c.1564_*1565insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1565		chr3	TogoVar
QPCT_chr2_37339630_37378322	37347231	C C	CATATATA others(31): Show CATATATATAACATATATATATATATATAACATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	442	0.0023	38	c.120 others(55): Show c.120+2389_120+2390insACATATATATATATATATAACATATATA TATATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QPCT_chr2_37339630_37378322	37347231	C C	CATATATA others(31): Show CATATATATAACATATATATATATATATATAACATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	442	0.0023	38	c.120 others(55): Show c.120+2389_120+2390insACATATATATATATATATATAACATATA TATATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QRFPR_chr4_121323642_121386018	121323977	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0009	a0003c0004t0009g0280 a0003c0004t0009g0280	1	384	0.0026	38	c.53 others(49): Show c.5336_*5337insATATATATATATATATATATATATATATATATAT ATAT	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding		4664		chr4	TogoVar
QRFPR_chr4_121323642_121386018	121380186	G G	GGAGAGAG others(31): Show GGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0334 a0001c0001t0002g0334	1	384	0.0026	38	c.340 others(53): Show c.340+121_340+122insTCTCTCTCTCTCTCTCTCTCTCTCTCTCCC TCTCTCTC	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5			chr4	TogoVar
RAB10_chr2_26029084_26142454	26114737	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	212	0.0047	38	c.327 others(55): Show c.327+4849_327+4850insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	RAB10	ENSG00000084733.11	transcript	ENST00000264710.5	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB11FIP2_chr10_117999916_118051941	118049068	T T	TAAAAAAA others(31): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0203 a0001c0002t0002g0203	1	400	0.0025	38	c.-29 others(49): Show c.-2906_-2905insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RAB11FIP2	ENSG00000107560.12	transcript	ENST00000355624.8	protein_coding		2128		chr10	TogoVar
RAB11FIP3_chr16_420649_528011	522044	T T	TGTGTGCG others(31): Show TGTGTGCGCGCGTGTGTGCGCGCATGTGTGCGTGCGTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18943.hp2 NA19004.hp1 NA18943.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0046 a0001c0001t0045 a0001c0001t0046	a0001c0001t0045g0138 a0001c0001t0046g0131 a0001c0001t0045g0138 a0001c0001t0046g0131	2	295	0.0068	38	c.12 others(49): Show c.1205_*1206insGTGTGCGCGCGTGTGTGCGCGCATGTGTGCGTGC GTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	14/14	1206		chr16	TogoVar
RAB15_chr14_64940816_64977336	64973893	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	382	0.0026	38	c.-18 others(49): Show c.-1818_-1817insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RAB15	ENSG00000139998.16	transcript	ENST00000533601.7	protein_coding		1558		chr14	TogoVar
RAB18_chr10_27499304_27547239	27546498	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02717.hp2 HG02647.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0216 a0001c0001t0004g0052 a0001c0001t0004g0216	2	410	0.0049	38	c.84 others(49): Show c.8447_*8448insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RAB18	ENSG00000099246.18	transcript	ENST00000356940.11	protein_coding		4260		chr10	TogoVar
RAB1A_chr2_65081854_65135106	65103299	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18612.hp1 NA18960.hp2 HG02273.hp2 NA18612.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081	3	340	0.0088	38	c.96+ others(53): Show c.96+1434_96+1435insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	2/5			chr2	TogoVar
RAB27A_chr15_55197966_55294813	55241600	T T	TTCTTTAT others(31): Show TTCTTTATATATATATATGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0277 a0001c0001t0015g0277	1	320	0.0031	38	c.-22 others(55): Show c.-22-6645_-22-6644insTATATATATATATATATACACATATATA TATATAAAGA	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	2/6			chr15	TogoVar
RAB27A_chr15_55197966_55294813	55241612	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	320	0.0031	38	c.-22 others(55): Show c.-22-6657_-22-6656insCACATATATATATATATATATATATATA TATATATATA	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	2/6			chr15	TogoVar
RAB27A_chr15_55197966_55294813	55241624	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03195.hp2 NA19043.hp2 HG02622.hp2 HG03195.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0030 a0001c0001t0003 a0001c0001t0030	a0001c0001t0003g0148 a0001c0001t0003g0269 a0001c0001t0030g0318 a0001c0001t0003g0148 a0001c0001t0003g0269 a0001c0001t0030g0318	3	320	0.0094	38	c.-22 others(55): Show c.-22-6669_-22-6668insCACACATATATATATATATATATATATA TATATATATA	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	2/6			chr15	TogoVar
RAB27B_chr18_54823477_54900516	54850333	G G	GACATATA others(31): Show GACATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02004.hp1 NA18963.hp1 HG01433.hp1 HG02004.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0159 a0001c0001t0001g0170 a0001c0001t0003g0157 a0001c0001t0001g0159 a0001c0001t0001g0170 a0001c0001t0003g0157	3	334	0.0090	38	c.-20 others(57): Show c.-20+21634_-20+21635insCATATATATATATATATATATATATA TATATATATATA	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(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0293 a0001c0001t0005g0293	1	358	0.0028	38	c.475 others(57): Show c.475-12741_475-12740insTATATATATATATATATATATATATA TATATATATATA	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAB3C_chr5_58578075_58864394	58845612	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG02630.hp2 HG02486.hp1 HG02615.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0050 a0001c0001t0006 a0001c0001t0050	a0001c0001t0006g0051 a0001c0001t0006g0173 a0001c0001t0050g0062 a0001c0001t0006g0051 a0001c0001t0006g0173 a0001c0001t0050g0062	3	220	0.0136	38	c.497 others(55): Show c.497-5551_497-5550insATATATATATATATATATATATATGTGT GTGTGTGTGT	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(31): Show ATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0195 a0001c0001t0057g0195	1	220	0.0046	38	c.497 others(55): Show c.497-5551_497-5550insATATATATATATGTGTGTGTGTGTGTGT GTGTGTGTGT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB44_chr6_36692826_36738184	36715102	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0061 a0003c0006t0004g0061	1	428	0.0023	38	c.320 others(53): Show c.320-361_320-360insATATATATATATATATATATATATATATAT ATATATAT	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02300.hp1 HG02683.hp2 others(2): Show HG01934.hp2 HG02300.hp1 HG02683.hp2 NA18941.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0247 a0001c0001t0002g0005 a0001c0001t0003g0005 a0001c0001t0001g0247 a0001c0001t0002g0005 a0001c0001t0003g0005	5	398	0.0126	38	c.219 others(53): Show c.219-444_219-407dupACACACACACACACACACACACACACACAC ACACACAC	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(31): Show TACATACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	398	0.0025	38	c.219 others(53): Show c.219-442_219-441insTACACACACACACACACACACACACACACA CACACACA	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(31): Show TACATACATACATACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG03688.hp2 HG01069.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	2	398	0.0050	38	c.219 others(53): Show c.219-442_219-441insTACATACATACACACACACACACACACACA CACACACA	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(31): Show TACATACATACATATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01255.hp2 HG01993.hp2 others(6): Show HG00741.hp1 HG01255.hp2 HG01993.hp2 HG02145.hp2 HG02293.hp2 HG02523.hp2 HG02723.hp1 HG02970.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0010 a0001c0001t0001g0063 a0001c0001t0001g0102 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0063 a0001c0001t0001g0102 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0003g0010	9	398	0.0226	38	c.219 others(53): Show c.219-442_219-441insTACATACATATACACACACACACACACACA CACACACA	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(31): Show CACACACACACACACACACACACACACACACACACACTA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	398	0.0025	38	c.219 others(53): Show c.219-345_219-344insACACACACACACACACACACACACACACAC ACACACTA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3			chr20	TogoVar
RAB6A_chr11_73670638_73766074	73685588	G G	GAAAGTCT others(31): Show GAAAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03139.hp1 HG03195.hp1 others(2): Show HG02965.hp1 HG03139.hp1 HG03195.hp1 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0009g0005 others(2): Show a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0009g0005 a0001c0001t0009g0006 a0001c0001t0009g0007	5	354	0.0141	38	c.496 others(55): Show c.496-5869_496-5868insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGACTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	6/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739304	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 NA19088.hp1 HG01071.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0189 a0001c0001t0001g0158 a0001c0001t0001g0189	2	354	0.0057	38	c.71- others(53): Show c.71-8482_71-8481insTTATATATATATATATATATATATATATAT ATATATAT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB7A_chr3_128721183_128819798	128795751	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	314	0.0032	38	c.53+ others(51): Show c.53+348_53+349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB7A_chr3_128721183_128819798	128809936	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02273.hp1 HG02055.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0292 a0001c0001t0002g0057 a0001c0001t0001g0292 a0001c0001t0002g0057	2	314	0.0064	38	c.528 others(55): Show c.528+2295_528+2296insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RABEP1_chr17_5277284_5391340	5323759	A A	AATATATA others(31): Show AATATATATATATCTAGGAATATATATATATCTAGGAAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG00621.hp1 others(38): Show HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00738.hp1 HG01081.hp2 HG01192.hp2 HG01358.hp2 HG01884.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02132.hp1 HG02165.hp2 HG02280.hp2 HG02735.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG03492.hp2 HG03516.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp2 NA18906.hp1 NA18943.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18965.hp1 NA18969.hp2 NA18977.hp1 NA18981.hp2 NA18995.hp2 NA19007.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19086.hp2 NA19088.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011 a0003c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0021 a0001c0002t0026 a0001c0002t0032 a0001c0002t0040 a0001c0004t0002 a0001c0011t0036 a0003c0010t0004	a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0114 others(38): Show a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0004g0106 a0001c0001t0004g0112 a0001c0001t0004g0117 a0001c0001t0011g0133 a0001c0001t0011g0134 a0001c0002t0004g0110 a0001c0002t0004g0113 a0001c0002t0004g0116 a0001c0002t0004g0119 a0001c0002t0004g0120 a0001c0002t0004g0124 a0001c0002t0004g0136 a0001c0002t0004g0150 a0001c0002t0006g0127 a0001c0002t0006g0131 a0001c0002t0006g0141 a0001c0002t0006g0143 a0001c0002t0006g0145 a0001c0002t0006g0148 a0001c0002t0006g0149 a0001c0002t0006g0155 a0001c0002t0006g0156 a0001c0002t0006g0172 a0001c0002t0008g0004 a0001c0002t0008g0132 a0001c0002t0008g0142 a0001c0002t0008g0144 a0001c0002t0008g0161 a0001c0002t0021g0162 a0001c0002t0026g0140 a0001c0002t0032g0129 a0001c0002t0040g0107 a0001c0004t0002g0130 a0001c0011t0036g0173 a0003c0010t0004g0109	41	352	0.1165	38	c.164 others(55): Show c.164-8178_164-8177insCTAGGAATATATATATATCTAGGAATAT ATATATATAT	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
RABEP1_chr17_5277284_5391340	5323781	T T	TATATATA others(31): Show TATATATATATCTAGGAATATATATATATATTTCTAGGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0105 a0001c0002t0004g0105	1	352	0.0028	38	c.164 others(55): Show c.164-8158_164-8157insCTAGGAATATATATATATATTTCTAGGA ATATATATAT	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
RABGAP1L_chr1_174154520_175000308	174416035	T T	TATATATA others(31): Show TATATATATATATATATATATATATATACACACATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0139 a0001c0001t0020g0139	1	272	0.0037	38	c.171 others(59): Show c.1710+21891_1710+21892insTATATATATATATATATATATATA TACACACATATACA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174550895	T T	TATATATA others(31): Show TATATATACATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0226 a0001c0001t0004g0226	1	272	0.0037	38	c.171 others(59): Show c.1711-86479_1711-86478insTATATACATATATATATATATATA TATATATATACACA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174550983	C C	CATATATA others(31): Show CATATATATATACATATATATATATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	272	0.0037	38	c.171 others(59): Show c.1711-86381_1711-86380insCATATATATATATATATACATATA TATATATATATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174550985	T T	TATATATA others(31): Show TATATATATACATATGTATATATACATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02818.hp1 HG03453.hp2 others(1): Show HG02055.hp1 HG02818.hp1 HG03453.hp2 HG03516.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0015 a0002c0003t0025 a0002c0003t0006 a0002c0003t0015 a0002c0003t0025	a0002c0003t0006g0080 a0002c0003t0006g0081 a0002c0003t0015g0085 others(1): Show a0002c0003t0006g0080 a0002c0003t0006g0081 a0002c0003t0015g0085 a0002c0003t0025g0082	4	272	0.0147	38	c.171 others(59): Show c.1711-86381_1711-86380insCATATGTATATATACATATATATA TATACATATATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174937619	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01257.hp2 HG01258.hp2 others(9): Show HG01074.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01934.hp1 HG02293.hp1 HG02818.hp1 HG02970.hp1 HG03490.hp2 HG03492.hp2 NA18999.hp2 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0015 a0001c0001t0002 a0002c0003t0015	a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 others(9): Show a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0131 a0001c0001t0002g0145 a0002c0003t0015g0085	12	272	0.0441	38	c.234 others(59): Show c.2341-19822_2341-19821insATATATATATATATATATATATAT ATATATATATATAT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAD17_chr5_69364818_69419801	69377585	A A	ACATATAT others(31): Show ACATATATATGCATATATATATGTATACATATATATATG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	359	0.0028	38	c.351 others(55): Show c.351+2883_351+2884insGCATATATATATGTATACATATATATAT GCATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD21L1_chr20_1221044_1260876	1221366	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp2 HG02970.hp1 HG02970.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0005 a0003c0004t0003 a0002c0002t0005 a0003c0004t0003	a0002c0002t0005g0087 a0003c0004t0003g0090 a0002c0002t0005g0087 a0003c0004t0003g0090	2	364	0.0055	38	c.-48 others(49): Show c.-4807_-4806insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding		4677		chr20	TogoVar
RAD51B_chr14_67814779_68483093	68260298	C C	CGTGTGTG others(31): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03942.hp2 HG02055.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0019 a0001c0001t0001g0028	2	84	0.0238	38	c.757 others(57): Show c.757-31565_757-31564insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTG	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RAD51C_chr17_58687602_58740611	58739357	C C	CCTCCCAA others(31): Show CCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	330	0.0030	38	c.51 others(49): Show c.5135_*5136insCTCCCAAGTAGCTGGGATTACAGGCATGCGCCAC CACG	RAD51C	ENSG00000108384.16	transcript	ENST00000337432.9	protein_coding		3747		chr17	TogoVar
RADIL_chr7_4792055_4888716	4807584	T T	TGTCTCCC others(31): Show TGTCTCCCCTCCCTCCTCCCTCTCCTTCTCTCTCCCCCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03130.hp2 NA18522.hp1 HG02486.hp1 HG03130.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0065 a0001c0001 a0001c0065	a0001c0001t0027 a0001c0001t0036 a0001c0065t0009 a0001c0001t0027 a0001c0001t0036 a0001c0065t0009	a0001c0001t0027g0162 a0001c0001t0036g0082 a0001c0065t0009g0134 a0001c0001t0027g0162 a0001c0001t0036g0082 a0001c0065t0009g0134	3	292	0.0103	38	c.214 others(57): Show c.2140-1906_2140-1869dupGGGGGGAGAGAGAAGGAGAGGGAGGA GGGAGGGGAGAC	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	9/14			chr7	TogoVar
RAE1_chr20_57346255_57384202	57350851	G G	GGGGGACG others(31): Show GGGGGACGGGGGGACGGGGGGCGGGGGGGGCGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0021 a0001c0005t0004g0021	1	342	0.0029	38	c.-57 others(47): Show c.-579_-578insGGGGACGGGGGGACGGGGGGCGGGGGGGGCGGGGGG GC	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		403		chr20	TogoVar
RAI14_chr5_34651328_34837612	34665007	A A	ATATATAT others(31): Show ATATATATGTGTATATATATATGTGTATATATATATGTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19043.hp2 HG06807.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0143 a0002c0002t0002g0051 a0001c0001t0001g0143 a0002c0002t0002g0051	2	254	0.0079	38	c.-49 others(55): Show c.-49+8539_-49+8540insGTGTATATATATATGTGTATATATATAT GTGTATATAT	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RALGPS1_chr9_126909782_127228166	126958142	A A	AATAAATA others(31): Show AATAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	276	0.0036	38	c.-65 others(55): Show c.-65-4080_-65-4079insAATATATATATATATATATATATATATA TATATATATA	RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
RALGPS1_chr9_126909782_127228166	127188832	T T	TTAAAAAA others(31): Show TTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02572.hp1 NA19080.hp2 HG01934.hp2 HG02572.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0202 a0001c0001t0001g0271 a0001c0001t0001g0109 a0001c0001t0001g0202 a0001c0001t0001g0271	3	276	0.0109	38	c.911 others(55): Show c.911-6259_911-6258insTAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	11/18			chr9	TogoVar
RALYL_chr8_84178274_84926844	84342277	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03041.hp1 HG06807.hp2 HG02572.hp1 HG03041.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010	a0001c0001t0005g0020 a0001c0001t0009g0033 a0001c0001t0010g0008 a0001c0001t0005g0020 a0001c0001t0009g0033 a0001c0001t0010g0008	3	82	0.0366	38	c.-24 others(59): Show c.-24+157872_-24+157873insTATATATATATATATATATATATA TATATATATATATA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84478918	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	82	0.0122	38	c.-23 others(57): Show c.-23-50381_-23-50380insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8			chr8	TogoVar
RALYL_chr8_84178274_84926844	84732683	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0023 a0001c0001t0008g0023	1	82	0.0122	38	c.257 others(57): Show c.257-41895_257-41894insTATATATATATATATATATATATATA TATATATACACA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RANBP17_chr5_170857018_171305015	170894484	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA21309.hp1 HG03486.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0165 a0001c0001t0006g0096 a0001c0001t0002g0165 a0001c0001t0006g0096	2	192	0.0104	38	c.424 others(55): Show c.424-1565_424-1564insATATATATATATATATATATATATATAT ATATATATAT	RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr5	TogoVar

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