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
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(27): Show TACATACATACATATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02132.hp2 HG02300.hp2 others(8): Show HG00738.hp1 HG02132.hp2 HG02300.hp2 HG02723.hp2 HG03195.hp1 HG03209.hp2 HG03710.hp2 HG04184.hp2 NA18998.hp1 NA19010.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0036 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0277 a0001c0001t0007g0002 a0001c0001t0007g0022	11	398	0.0276	34	c.219 others(49): Show c.219-442_219-441insTACATACATATACACACACACACACACACA CACA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACTTACA others(27): Show TACTTACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	398	0.0025	34	c.219 others(49): Show c.219-443_219-442insTTACACACACACACACACACACACACACAC ACAC	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB6A_chr11_73670638_73766074	73739304	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02523.hp2 HG03942.hp2 others(2): Show HG02129.hp2 HG02523.hp2 HG03942.hp2 NA19002.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0099 a0001c0001t0001g0142 a0001c0001t0001g0181 others(2): Show a0001c0001t0001g0099 a0001c0001t0001g0142 a0001c0001t0001g0181 a0001c0001t0001g0204 a0001c0001t0008g0105	5	354	0.0141	34	c.71- others(49): Show c.71-8482_71-8481insTTATATATATATATATATATATATATATAT ATAT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB7A_chr3_128721183_128819798	128795751	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	314	0.0032	34	c.53+ others(47): Show c.53+348_53+349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	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(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03490.hp2 HG00140.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0193 a0001c0001t0005g0144 a0001c0001t0001g0193 a0001c0001t0005g0144	2	314	0.0064	34	c.528 others(51): Show c.528+2295_528+2296insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TATATAGA others(27): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0239 a0001c0001t0004g0239	1	366	0.0027	34	c.-47 others(45): Show c.-4731_-4730insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATAT	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4656		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TATATATA others(27): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0266 a0002c0002t0001g0266	1	366	0.0027	34	c.-47 others(45): Show c.-4731_-4730insCTCTCTCTCTCTCTCTCTCTCTCTCTATATATAT	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4656		chr16	TogoVar
RABGAP1L_chr1_174154520_175000308	174327966	T T	TATATATA others(27): Show TATATATACATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	272	0.0037	34	c.146 others(55): Show c.1465+22846_1465+22847insCATATATATATATATATATATACA TACATATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174327988	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA19068.hp1 NA18989.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0196 a0001c0002t0003g0191 a0001c0001t0001g0196 a0001c0002t0003g0191	2	272	0.0074	34	c.146 others(55): Show c.1465+22892_1465+22893insCACATATATATATATATATATATA TATATATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174327994	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0187 a0001c0002t0003g0187	1	272	0.0037	34	c.146 others(55): Show c.1465+22899_1465+22900insACATATATATATATATATATATAT ATATATATAC	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174416035	T T	TATATATA others(27): Show TATATATATATATATATATATATATACACATATAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0101 a0001c0001t0012g0101	1	272	0.0037	34	c.171 others(55): Show c.1710+21891_1710+21892insTATATATATATATATATATATATA CACATATACA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174833449	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 NA19011.hp2 HG03490.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0112 a0001c0001t0002g0095 a0001c0001t0002g0112	2	272	0.0074	34	c.234 others(55): Show c.2340+21508_2340+21509insTATATATATATATATATATATATA TATATATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174937619	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01978.hp2 HG03209.hp2 others(1): Show HG01081.hp2 HG01978.hp2 HG03209.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0087 a0001c0001t0002g0136 a0001c0001t0005g0138 others(1): Show a0001c0001t0002g0087 a0001c0001t0002g0136 a0001c0001t0005g0138 a0001c0001t0005g0143	4	272	0.0147	34	c.234 others(55): Show c.2341-19822_2341-19821insATATATATATATATATATATATAT ATATATATAT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABL6_chr9_136802948_136846187	136825423	A A	AGGGGCCG others(27): Show AGGGGCCGTGCCCAGGATCGGGGCCGGGGAGGGAG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0288 a0001c0001t0003g0288	1	330	0.0030	34	c.266 others(49): Show c.266-352_266-319dupGCCGTGCCCAGGATCGGGGCCGGGGAGGGA GGGG	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
RACGAP1_chr12_49984162_50030494	49991457	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	324	0.0031	34	c.171 others(51): Show c.1714+540_1714+541insTATATATATATATATATATATATATATA TATATA	RACGAP1	ENSG00000161800.13	transcript	ENST00000312377.10	protein_coding	15/16			chr12	TogoVar
RAD17_chr5_69364818_69419801	69377600	T T	TATATATG others(27): Show TATATATGCATATATATGTATGCATATATATATGC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	359	0.0028	34	c.351 others(51): Show c.351+2895_351+2896insGCATATATATGTATGCATATATATATGC ATATAT	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(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG02717.hp2 HG01884.hp1 HG02280.hp1 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0005 a0002c0002t0003 a0002c0002t0005	a0002c0002t0003g0093 a0002c0002t0005g0007 a0002c0002t0003g0093 a0002c0002t0005g0007	3	364	0.0082	34	c.-48 others(45): Show c.-4807_-4806insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding		4677		chr20	TogoVar
RAD51B_chr14_67814779_68483093	68260298	C C	CGTGTGTG others(27): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG06807.hp2 NA19030.hp1 HG03225.hp1 HG06807.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0052 a0001c0001t0002g0027 a0001c0001t0005g0033 a0001c0001t0001g0052 a0001c0001t0002g0027 a0001c0001t0005g0033	3	84	0.0357	34	c.757 others(53): Show c.757-31565_757-31564insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RAE1_chr20_57346255_57384202	57350889	C C	CGGGGGGG others(27): Show CGGGGGGGGCGGGGGGACGGGGGGCGGGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	342	0.0029	34	c.-54 others(43): Show c.-541_-540insGGGGGGGGCGGGGGGACGGGGGGCGGGGGGGGCG	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		365		chr20	TogoVar
RALGDS_chr9_133092722_133126240	133124140	A A	ACACACAC others(27): Show ACACACACACAGAGACACAAAGATACACAGAGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(80): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02155.hp2 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02738.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03490.hp2 HG03491.hp1 HG03579.hp1 HG03704.hp2 HG03710.hp1 NA18522.hp1 NA18906.hp2 NA18944.hp2 NA18950.hp1 NA18954.hp1 NA18954.hp2 NA18963.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp2 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18991.hp2 NA18997.hp1 NA18998.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19054.hp1 NA19056.hp1 NA19066.hp1 NA19070.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19091.hp2 NA21309.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0003 a0001c0005 a0001c0009 others(5): Show a0001c0003 a0001c0005 a0001c0009 a0001c0014 a0001c0025 a0001c0026 a0007c0036 a0008c0037	a0001c0003t0002 a0001c0003t0009 a0001c0003t0010 others(9): Show a0001c0003t0002 a0001c0003t0009 a0001c0003t0010 a0001c0003t0011 a0001c0005t0004 a0001c0005t0007 a0001c0009t0001 a0001c0014t0001 a0001c0025t0002 a0001c0026t0002 a0007c0036t0002 a0008c0037t0001	a0001c0003t0002g0004 a0001c0003t0002g0005 a0001c0003t0002g0008 others(45): Show a0001c0003t0002g0004 a0001c0003t0002g0005 a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0011 a0001c0003t0002g0012 a0001c0003t0002g0021 a0001c0003t0002g0022 a0001c0003t0002g0030 a0001c0003t0002g0052 a0001c0003t0002g0063 a0001c0003t0002g0065 a0001c0003t0002g0067 a0001c0003t0002g0068 a0001c0003t0002g0069 a0001c0003t0002g0070 a0001c0003t0002g0072 a0001c0003t0002g0073 a0001c0003t0002g0076 a0001c0003t0002g0077 a0001c0003t0002g0080 a0001c0003t0002g0081 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0091 a0001c0003t0002g0092 a0001c0003t0002g0093 a0001c0003t0002g0098 a0001c0003t0002g0099 a0001c0003t0002g0100 a0001c0003t0002g0101 a0001c0003t0002g0237 a0001c0003t0009g0071 a0001c0003t0010g0064 a0001c0003t0011g0074 a0001c0005t0004g0057 a0001c0005t0004g0058 a0001c0005t0007g0060 a0001c0009t0001g0066 a0001c0009t0001g0078 a0001c0009t0001g0094 a0001c0009t0001g0097 a0001c0014t0001g0236 a0001c0014t0001g0264 a0001c0025t0002g0095 a0001c0026t0002g0096 a0007c0036t0002g0079 a0008c0037t0001g0269	83	424	0.1958	34	c.-29 others(45): Show c.-2987_-2986insCATCTCTGTGTATCTTTGTGTCTCTGTGTGTGTG	RALGDS	ENSG00000160271.16	transcript	ENST00000372050.8	protein_coding		2901		chr9	TogoVar
RALGPS1_chr9_126909782_127228166	127188832	T T	TTAAAAAA others(27): Show TTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	276	0.0036	34	c.911 others(51): Show c.911-6259_911-6258insTAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	11/18			chr9	TogoVar
RALYL_chr8_84178274_84926844	84342277	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG06807.hp1 HG03471.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0002g0039 a0001c0001t0001g0004 a0001c0001t0002g0039	2	82	0.0244	34	c.-24 others(55): Show c.-24+157872_-24+157873insTATATATATATATATATATATATA TATATATATA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84732683	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	82	0.0122	34	c.257 others(53): Show c.257-41895_257-41894insTATATATATATATATATATATATATA TATACACA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAMP1_chr2_237854623_237917106	237882820	A A	AGGCCATC others(27): Show AGGCCATCACCAGGTGTGGGCCATCACCAGGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	404	0.0025	34	c.191 others(51): Show c.191+5478_191+5479insCATCACCAGGTGTGGGCCATCACCAGGT GTGGGC	RAMP1	ENSG00000132329.11	transcript	ENST00000254661.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
RANBP17_chr5_170857018_171305015	170894484	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02257.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0093 a0001c0001t0002g0166 a0001c0001t0001g0093 a0001c0001t0002g0166	2	192	0.0104	34	c.424 others(51): Show c.424-1565_424-1564insATATATATATATATATATATATATATAT ATATAT	RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr5	TogoVar
RANBP17_chr5_170857018_171305015	171277637	G G	GTATGTAT others(27): Show GTATGTATATGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0089	1	192	0.0052	34	c.294 others(55): Show c.2943+11793_2943+11794insGTATATGTATATATATATATATAT ATATATATAT	RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr5	TogoVar
RANBP17_chr5_170857018_171305015	171277637	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp2 NA19080.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0039 a0001c0002t0003g0177 a0001c0001t0001g0039 a0001c0002t0003g0177	2	192	0.0104	34	c.294 others(55): Show c.2943+11791_2943+11792insGTATATATATATATATATATATAT ATATATATAT	RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr5	TogoVar
RANBP17_chr5_170857018_171305015	171277637	G G	GTGTGTGT others(27): Show GTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0012 a0001c0002t0003g0012	1	192	0.0052	34	c.294 others(55): Show c.2943+11791_2943+11792insGTGTGTGTATATATATATATATAT ATATATATAT	RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr5	TogoVar
RANBP3_chr19_5911139_5983140	5937056	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	322	0.0031	34	c.407 others(51): Show c.407-3578_407-3577insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RANBP3	ENSG00000031823.14	transcript	ENST00000340578.10	protein_coding	5/16			chr19	TogoVar
RANBP9_chr6_13616498_13716835	13666600	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	360	0.0028	34	c.684 others(51): Show c.684-7769_684-7768insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RANBP9	ENSG00000010017.13	transcript	ENST00000011619.6	protein_coding	2/13			chr6	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02615.hp1 HG03453.hp1 HG02257.hp1 HG02615.hp1 HG03453.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0015 a0001c0003 a0003c0015	a0001c0003t0001 a0001c0003t0003 a0003c0015t0001 a0001c0003t0001 a0001c0003t0003 a0003c0015t0001	a0001c0003t0001g0328 a0001c0003t0003g0329 a0003c0015t0001g0002 a0001c0003t0001g0328 a0001c0003t0003g0329 a0003c0015t0001g0002	3	372	0.0081	34	c.-14 others(53): Show c.-149+8908_-149+8909insAATATATATATATATATATATATATA TATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02083.hp1 NA19056.hp1 others(1): Show HG02071.hp1 HG02083.hp1 NA19056.hp1 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0015 a0001c0002t0001g0016 a0002c0001t0001g0003 others(1): Show a0001c0002t0001g0015 a0001c0002t0001g0016 a0002c0001t0001g0003 a0002c0001t0001g0004	4	372	0.0108	34	c.-14 others(53): Show c.-149+8908_-149+8909insAATAAATATATATATATATATATATA TATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATTTATTTATT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02040.hp2 HG00544.hp2 HG02040.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0001 a0002c0001t0001 a0001c0004t0001 a0002c0001t0001	a0001c0004t0001g0041 a0002c0001t0001g0011 a0001c0004t0001g0041 a0002c0001t0001g0011	2	372	0.0054	34	c.-14 others(53): Show c.-149+8908_-149+8909insAATAAATAAATATATATATATATATA TATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAPGEF5_chr7_22113236_22362154	22115184	G G	GACACACA others(27): Show GACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 NA19003.hp1 HG02630.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0143 a0001c0002t0015 a0001c0002t0143	a0001c0002t0015g0025 a0001c0002t0143g0128 a0001c0002t0015g0025 a0001c0002t0143g0128	2	330	0.0061	34	c.72 others(45): Show c.7221_*7222insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	RAPGEF5	ENSG00000136237.20	transcript	ENST00000665637.1	protein_coding		3051		chr7	TogoVar
RARA_chr17_40304180_40362643	40346947	T T	TGGGGGGG others(27): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	286	0.0035	34	c.179 others(51): Show c.179-1369_179-1368insGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGG	RARA	ENSG00000131759.18	transcript	ENST00000254066.10	protein_coding	2/8			chr17	TogoVar
RARB_chr3_25423263_25602932	25494250	T T	TACACACA others(27): Show TACACACACACACACGCGCGCGCACTCACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0144 a0001c0001t0005g0144	1	290	0.0035	34	c.307 others(51): Show c.307-6930_307-6929insACACACACACACGCGCGCGCACTCACAC ACACAC	RARB	ENSG00000077092.20	transcript	ENST00000330688.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
RARB_chr3_25423263_25602932	25494250	T T	TACACACA others(27): Show TACACACACACGCACGCGCGCGCACTCACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG02055.hp1 others(4): Show HG00140.hp1 HG00408.hp2 HG02055.hp1 HG02965.hp2 NA19003.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0075 others(4): Show a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0075 a0001c0001t0001g0241 a0001c0001t0002g0041 a0001c0001t0002g0086 a0001c0001t0003g0228	7	290	0.0241	34	c.307 others(51): Show c.307-6930_307-6929insACACACACGCACGCGCGCGCACTCACAC ACACAC	RARB	ENSG00000077092.20	transcript	ENST00000330688.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
RARB_chr3_25423263_25602932	25494250	T T	TACACACA others(27): Show TACACACACACGCACGCGCGCGCGCGCGCACACAC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	290	0.0035	34	c.307 others(51): Show c.307-6930_307-6929insACACACACGCACGCGCGCGCGCGCGCAC ACACAC	RARB	ENSG00000077092.20	transcript	ENST00000330688.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
RARS1_chr5_168481471_168524301	168518071	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19003.hp2 NA19006.hp1 others(1): Show NA18971.hp2 NA19003.hp2 NA19006.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0338 a0001c0001t0001g0342 others(1): Show a0001c0001t0001g0324 a0001c0001t0001g0338 a0001c0001t0001g0342 a0001c0001t0001g0345	4	394	0.0102	34	c.187 others(49): Show c.1873+33_1873+34insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RARS1	ENSG00000113643.9	transcript	ENST00000231572.8	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RARS2_chr6_87508938_87594987	87513277	G G	GTGTGTGT others(27): Show GTGTGTGTGTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0341 a0002c0003t0004g0341	1	382	0.0026	34	c.11 others(45): Show c.1135_*1136insTATATATATATATATATATATATATACACACACA	RARS2	ENSG00000146282.19	transcript	ENST00000369536.10	protein_coding		660		chr6	TogoVar
RASA1_chr5_87262883_87396916	87338501	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	282	0.0036	34	c.101 others(51): Show c.1017+442_1017+443insTATATATATATATATATATATATATATA TATATA	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	5/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA3_chr13_113972783_114137623	113980427	C C	CCCACGTG others(27): Show CCCACGTGTGCGCCTCCTCCGTGTGCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0052 a0001c0010t0002g0052	1	67	0.0149	34	c.243 others(53): Show c.2430-1006_2430-1005insTGGGAGGAGGCACACGGAGGAGGCGC ACACGTGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	23/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114006110	C C	CCCTCCTG others(27): Show CCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	67	0.0149	34	c.174 others(53): Show c.1742+1422_1742+1423insAGAAGGGTAAGGTGGCGTCCGGCAGG GCAGGAGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114043890	G G	GCCCCCCC others(27): Show GCCCCCCCCCCGCCCCGCCTCACTCGCTGAGCCCC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0036	1	67	0.0149	34	c.278 others(51): Show c.278-2797_278-2796insGGGGCTCAGCGAGTGAGGCGGGGCGGGG GGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114099629	C C	CGTAGCCC others(27): Show CGTAGCCCCCACAGCAGCCCCCCCACAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	1	67	0.0149	34	c.56- others(51): Show c.56-25793_56-25792insTGGGGGGCTGTGGGGGGGCTGCTGTGGG GGCTAC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114117738	A A	AGCACGTG others(27): Show AGCACGTGTGTGAGGAGAGCACGTGTGTGAGGGGT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0052 a0001c0010t0002g0052	1	67	0.0149	34	c.55+ others(51): Show c.55+14696_55+14697insACCCCTCACACACGTGCTCTCCTCACAC ACGTGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114120292	C C	CTCTCTCC others(27): Show CTCTCTCCAGCCAGGCGTCGATCAAGTCCCCCCCT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0023	1	67	0.0149	34	c.55+ others(51): Show c.55+12142_55+12143insAGGGGGGGACTTGATCGACGCCTGGCTG GAGAGA	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114120306	G G	GCGTCGAT others(27): Show GCGTCGATCAAGTCCCCCCCTTCTCTCCAGCCAGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01175.hp1 HG01433.hp2 others(4): Show HG01167.hp1 HG01175.hp1 HG01433.hp2 HG02148.hp1 HG02300.hp1 NA18945.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002	a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0002t0001g0058 others(4): Show a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0002t0001g0058 a0001c0002t0002g0055 a0001c0002t0002g0057 a0001c0002t0002g0062 a0001c0002t0002g0067	7	67	0.1045	34	c.55+ others(51): Show c.55+12128_55+12129insTCTGGCTGGAGAGAAGGGGGGGACTTGA TCGACG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASAL2_chr1_178089104_178483850	178110637	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03710.hp1 NA19009.hp1 HG01256.hp1 HG03710.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0010 a0001c0002t0001 a0001c0002t0010	a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0010g0023 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0010g0023	3	180	0.0167	34	c.202 others(53): Show c.202+15959_202+15960insATATATATATATATATATATATATAT ATATATAT	RASAL2	ENSG00000075391.18	transcript	ENST00000367649.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RASAL2_chr1_178089104_178483850	178110650	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03516.hp2 HG02055.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0004 a0001c0001t0007g0168 a0001c0001t0007g0004 a0001c0001t0007g0168	2	180	0.0111	34	c.202 others(53): Show c.202+15959_202+15960insATATATATATATATATATATATATAT ATATGTAT	RASAL2	ENSG00000075391.18	transcript	ENST00000367649.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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