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
RNF141_chr11_10506673_10546187	10539699	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00558.hp1 others(21): Show HG00140.hp1 HG00438.hp1 HG00558.hp1 HG00621.hp1 HG01433.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01978.hp2 HG02071.hp1 HG02080.hp2 HG02280.hp2 HG02486.hp2 HG02698.hp2 HG03491.hp1 HG03492.hp2 HG03704.hp2 HG03831.hp1 NA18612.hp1 NA18612.hp2 NA18966.hp2 NA19006.hp1 NA19075.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0002t0001 a0001c0002t0003 a0001c0002t0021	a0001c0001t0001g0153 a0001c0001t0003g0062 a0001c0001t0003g0166 others(19): Show a0001c0001t0001g0153 a0001c0001t0003g0062 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0005g0294 a0001c0001t0009g0152 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0061 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0003g0151 a0001c0002t0021g0164	24	374	0.0642	35	c.-48 others(52): Show c.-48+1422_-48+1423insTATATATATATATATATATATATATATA TATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF144A_chr2_6912412_7049179	7012343	A A	AAGATGGG others(28): Show AAGATGGGCCTTCTGGTTTTATTGTCAAGTGCAGGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0240 a0002c0003t0003g0240	1	310	0.0032	35	c.136 others(52): Show c.136-2067_136-2033dupCTTCTGGTTTTATTGTCAAGTGCAGGGA GATGGGC	RNF144A	ENSG00000151692.15	transcript	ENST00000320892.11	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF19B_chr1_32931449_32969809	32964007	T T	TCGGCTGC others(28): Show TCGGCTGCAGCCCGCCGCCACCCGCGCCACGCCCCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0252 a0001c0001t0003g0252	1	330	0.0030	35	c.635 others(47): Show c.635+9_635+43dupGGGGGCGTGGCGCGGGTGGCGGCGGGCTGCAGC CG	RNF19B	ENSG00000116514.17	transcript	ENST00000235150.5	protein_coding	1/8			chr1	TogoVar
RNF212B_chr14_23232936_23278477	23275180	C C	CAATCAAA others(28): Show CAATCAAATCAGAATCCTTTACTCCTCCTTTCCAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	368	0.0027	35	c.22 others(46): Show c.2289_*2290insAATCAAATCAGAATCCTTTACTCCTCCTTTCCAA T	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding		1704		chr14	TogoVar
RNF212B_chr14_23232936_23278477	23277670	T T	TGAGAGGT others(28): Show TGAGAGGTTGAGGCTGCAGTGAGCTATGATTGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	368	0.0027	35	c.47 others(46): Show c.4779_*4780insGAGAGGTTGAGGCTGCAGTGAGCTATGATTGCAC C	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding		4194		chr14	TogoVar
RNF212_chr4_1066478_1118564	1066851	C C	CATATCCA others(28): Show CATATCCAGGAAATCACTGCCACATCCAACATTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0088 a0001c0001t0014g0088	1	406	0.0025	35	c.59 others(46): Show c.5988_*6022dupCACAATGTTGGATGTGGCAGTGATTTCCTGGATA T	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding		4626		chr4	TogoVar
RNF213_chr17_80255852_80403794	80355633	A A	ATGGAGGA others(28): Show ATGGAGGAAGAAGCGGGGTGACCGGGAATGGGGTCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0026 a0026	a0026c0080 a0026c0080	a0026c0080t0077 a0026c0080t0077	a0026c0080t0077g0290 a0026c0080t0077g0290	1	292	0.0034	35	c.108 others(56): Show c.10862+1057_10862+1058insTGGAGGAAGAAGCGGGGTGACCGG GAATGGGGTCT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RNF214_chr11_117227671_117291454	117288578	G G	GAAGCAGT others(28): Show GAAGCAGTGAGCCTCCTCGACCCAGGAAGACAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0007 a0002c0004t0002g0007	1	360	0.0028	35	c.34 others(46): Show c.3427_*3428insAAGCAGTGAGCCTCCTCGACCCAGGAAGACAGAG C	RNF214	ENSG00000167257.11	transcript	ENST00000300650.9	protein_coding		2125		chr11	TogoVar
RNF222_chr17_8385702_8402827	8396494	G G	GATGGCCT others(28): Show GATGGCCTCTCTGGGCAATCCTTCTCCCTTCCAACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02818.hp1 others(2): Show HG01891.hp1 HG02055.hp2 HG02818.hp1 HG03540.hp1 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0012 a0002c0002t0005g0012	5	436	0.0115	35	c.-17 others(54): Show c.-178+1166_-178+1200dupTGTTGGAAGGGAGAAGGATTGCCCAG AGAGGCCAT	RNF222	ENSG00000189051.6	transcript	ENST00000399398.3	protein_coding	1/2			chr17	TogoVar
RNF224_chr9_137222502_137234640	137230144	G G	GCAGGAAG others(28): Show GCAGGAAGAGGCCCAGTCCTCCTAGGGGACACCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0001	1	394	0.0025	35	c.10 others(46): Show c.1058_*1059insCAGGAAGAGGCCCAGTCCTCCTAGGGGACACCCC A	RNF224	ENSG00000233198.4	transcript	ENST00000445101.4	protein_coding		505		chr9	TogoVar
RNF26_chr11_119329527_119342309	119330545	T T	TTCTCTCT others(28): Show TTCTCTCTCTCTCCCTTTTCTTTCTCTCCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG03453.hp1 HG02809.hp2 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	2	422	0.0047	35	c.-45 others(46): Show c.-4578_-4577insTCTCTCTCTCTCCCTTTTCTTTCTCTCCTTCCTT C	RNF26	ENSG00000173456.5	transcript	ENST00000311413.5	protein_coding		3981		chr11	TogoVar
RNF2_chr1_185040558_185107603	185076268	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0170 a0001c0001t0010g0170	1	350	0.0029	35	c.-2- others(52): Show c.-2-11278_-2-11244dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF2_chr1_185040558_185107603	185082345	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0134 a0001c0001t0004g0134	1	350	0.0029	35	c.-2- others(50): Show c.-2-5185_-2-5184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF32_chr7_156635774_156682130	156678349	G G	GCCTGTGA others(28): Show GCCTGTGACAGTTAACAGAAAATCAGGCAATTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	448	0.0022	35	c.16 others(46): Show c.1694_*1695insCCTGTGACAGTTAACAGAAAATCAGGCAATTTTC T	RNF32	ENSG00000105982.17	transcript	ENST00000317955.10	protein_coding		1220		chr7	TogoVar
RNF4_chr4_2464106_2520857	2466647	T T	TGTGTGTG others(28): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	378	0.0027	35	c.-27 others(46): Show c.-2769_-2768insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT G	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding		2458		chr4	TogoVar
RNF4_chr4_2464106_2520857	2484067	T T	TCCCCCCC others(28): Show TCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	378	0.0027	35	c.-15 others(54): Show c.-157-6262_-157-6261insCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCC	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
RNF4_chr4_2464106_2520857	2518307	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0325 a0001c0001t0007g0325	1	378	0.0027	35	c.44 others(46): Show c.4488_*4489insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding		2451		chr4	TogoVar
ROBO1_chr3_78592239_79772998	78711325	C C	CTCCTTCC others(28): Show CTCCTTCCTTCCTTCCTTCCTCCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	44	0.0227	35	c.104 others(54): Show c.1045+3071_1045+3072insAGAAAGAAAGAAAGGAGGAAGGAAGG AAGGAAGGA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	8/30			chr3	TogoVar
ROCK2_chr2_11174759_11349636	11295989	A A	AGAGAGAG others(28): Show AGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19007.hp2 HG02056.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0017 a0002c0002t0003 a0002c0002t0017	a0002c0002t0003g0013 a0002c0002t0017g0225 a0002c0002t0003g0013 a0002c0002t0017g0225	2	320	0.0063	35	c.142 others(52): Show c.142-8254_142-8253insCCTCTCTCTCTCTCTCCTCTCTCTCTCT CTCTCTC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(28): Show GAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGGGGA	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18979.hp1 NA19002.hp2 others(1): Show HG02155.hp1 NA18979.hp1 NA19002.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0002t0003 a0002c0004t0002 a0002c0002t0002 a0002c0002t0003 a0002c0004t0002	a0002c0002t0002g0050 a0002c0002t0002g0098 a0002c0002t0003g0078 others(1): Show a0002c0002t0002g0050 a0002c0002t0002g0098 a0002c0002t0003g0078 a0002c0004t0002g0041	4	320	0.0125	35	c.142 others(52): Show c.142-8255_142-8254insTCCCCTCTCTCTCTCTCTCCTCTCTCTC TCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(28): Show GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18965.hp1 HG03669.hp1 NA18965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0040 a0002c0002t0002g0011 a0001c0001t0003g0040 a0002c0002t0002g0011	2	320	0.0063	35	c.142 others(52): Show c.142-8255_142-8254insTCTCCCCTCTCTCTCTCTCTCCTCTCTC TCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(28): Show GAGAGAGAGAGAGGAGAGAGAGAGAGAGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0086 a0002c0002t0003g0086	1	320	0.0031	35	c.142 others(52): Show c.142-8255_142-8254insTCTCTCTCCTCTCTCTCTCTCTCCTCTC TCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(28): Show GAGAGAGAGAGGAGAGAGAGAGAGAGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01934.hp1 HG01358.hp2 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0037 a0002c0002t0039 a0002c0002t0037 a0002c0002t0039	a0002c0002t0037g0030 a0002c0002t0039g0057 a0002c0002t0037g0030 a0002c0002t0039g0057	2	320	0.0063	35	c.142 others(52): Show c.142-8255_142-8254insTCTCTCTCCCCTCTCTCTCTCTCTCCTC TCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROPN1L_chr5_10436879_10470026	10458595	T T	TCATGTAC others(28): Show TCATGTACACCTTCCCCACCATGTACATCATCCCCC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	374	0.0027	35	c.418 others(52): Show c.418-2579_418-2578insTTCCCCACCATGTACATCATCCCCCCAT GTACACC	ROPN1L	ENSG00000145491.12	transcript	ENST00000274134.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
ROPN1L_chr5_10436879_10470026	10458622	T T	TCATCCCC others(28): Show TCATCCCCCCATGTACACCGTCCCCACCATGTACAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02559.hp1 HG02622.hp2 others(5): Show HG01358.hp1 HG02559.hp1 HG02622.hp2 HG02647.hp1 HG02896.hp2 HG03130.hp2 HG03209.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 others(5): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0253 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265	8	374	0.0214	35	c.418 others(52): Show c.418-2517_418-2483dupATGTACACCGTCCCCACCATGTACACCA TCCCCCC	ROPN1L	ENSG00000145491.12	transcript	ENST00000274134.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RORA_chr15_60483284_61234302	60517463	T T	TTTTTATT others(28): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA20300.hp1 HG03139.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0029 a0001c0003t0026 a0001c0003t0029	a0001c0003t0026g0007 a0001c0003t0029g0070 a0001c0003t0026g0007 a0001c0003t0029g0070	2	118	0.0170	35	c.283 others(52): Show c.283-2707_283-2706insTAAAATAAAATAAAATAAAATAAAATAA AATAAAA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10			chr15	TogoVar
RP2_chrX_46832043_46887358	46843780	G G	GTATATAA others(28): Show GTATATAAGCTCAAGATACTGGTCTTGAGCTTATAC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	274	0.0037	35	c.102 others(52): Show c.102+6597_102+6631dupTGGTCTTGAGCTTATACTATATAAGCTC AAGATAC	RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RPA2_chr1_27886524_27919575	27916957	T T	TCCCTCCC others(28): Show TCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	364	0.0028	35	c.-25 others(46): Show c.-2515_-2514insGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGG G	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2383		chr1	TogoVar
RPA3_chr7_7631518_7723607	7637658	T T	TAGTTATA others(28): Show TAGTTATATAAAACTGTATGTTATGTAATTACATAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00544.hp1 others(65): Show HG00140.hp2 HG00280.hp1 HG00544.hp1 HG00544.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02056.hp2 HG02080.hp2 HG02109.hp1 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02280.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03195.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18963.hp2 NA18986.hp1 NA18986.hp2 NA19063.hp2 NA20129.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013	a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0024 others(64): Show a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0188 a0001c0001t0001g0197 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0241 a0001c0001t0001g0249 a0001c0001t0001g0271 a0001c0001t0002g0011 a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0253 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0003g0006 a0001c0001t0003g0173 a0001c0001t0004g0050 a0001c0001t0005g0099 a0001c0001t0005g0100 a0001c0001t0005g0102 a0001c0001t0005g0289 a0001c0001t0005g0291 a0001c0001t0007g0010 a0001c0001t0007g0169 a0001c0001t0007g0171 a0001c0001t0007g0187 a0001c0001t0007g0206 a0001c0001t0012g0293 a0001c0001t0013g0111 a0001c0001t0013g0127 a0001c0001t0013g0137	68	308	0.2208	35	c.283 others(50): Show c.283+171_283+205dupGTATGTAATTACATAACATACAGTTTTATA TAACT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	7/7			chr7	TogoVar
RPAP2_chr1_92294059_92407056	92305432	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02970.hp2 HG03942.hp2 HG00438.hp2 HG02970.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0026 a0001c0001t0028 a0001c0011t0004 a0001c0001t0026 a0001c0001t0028 a0001c0011t0004	a0001c0001t0026g0129 a0001c0001t0028g0144 a0001c0011t0004g0090 a0001c0001t0026g0129 a0001c0001t0028g0144 a0001c0011t0004g0090	3	192	0.0156	35	c.399 others(52): Show c.399+1102_399+1103insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	RPAP2	ENSG00000122484.9	transcript	ENST00000610020.2	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPGRIP1_chr14_21275083_21356301	21275949	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	332	0.0030	35	c.-42 others(46): Show c.-4249_-4248insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding		4133		chr14	TogoVar
RPH3AL_chr17_207389_357807	234298	T T	TCCCCGAG others(28): Show TCCCCGAGCAGGGAGCGGCTACTTACCCTGACCAAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02622.hp1 HG02572.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0119 a0001c0001t0031g0067 a0001c0001t0001g0119 a0001c0001t0031g0067	2	133	0.0150	35	c.613 others(54): Show c.613+12812_613+12813insGTTGGTCAGGGTAAGTAGCCGCTCCC TGCTCGGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242319	A A	ACCTTCCT others(28): Show ACCTTCCTCTATTGATTACCTTCCTCTATTGATTAC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	133	0.0075	35	c.613 others(52): Show c.613+4791_613+4792insGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242404	A A	ACCTTCCT others(28): Show ACCTTCCTCTATTGATTACCTTCCTCTATTGATTAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA20905.hp1 HG01884.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0001 a0001c0001t0014 a0001c0002t0001	a0001c0001t0014g0025 a0001c0002t0001g0123 a0001c0001t0014g0025 a0001c0002t0001g0123	2	133	0.0150	35	c.613 others(52): Show c.613+4706_613+4707insGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242438	A A	ACCTTCCT others(28): Show ACCTTCCTCTATTGATTACCTTCCTCTATTGATTAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01255.hp1 HG01258.hp2 others(2): Show HG00140.hp1 HG01255.hp1 HG01258.hp2 HG01358.hp1 HG02148.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0006c0009t0001	a0001c0001t0001g0040 a0001c0001t0001g0128 a0001c0001t0002g0116 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0128 a0001c0001t0002g0116 a0001c0001t0003g0098 a0006c0009t0001g0054	5	133	0.0376	35	c.613 others(52): Show c.613+4672_613+4673insGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242472	A A	ACCTTCCT others(28): Show ACCTTCCTCTATTGATTACCTTCCTCTATTGATTAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01167.hp1 HG04184.hp2 others(2): Show HG00408.hp2 HG01167.hp1 HG04184.hp2 NA18906.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0002t0003 a0001c0004t0001	a0001c0001t0001g0080 a0001c0001t0005g0100 a0001c0001t0010g0129 others(2): Show a0001c0001t0001g0080 a0001c0001t0005g0100 a0001c0001t0010g0129 a0001c0002t0003g0033 a0001c0004t0001g0050	5	133	0.0376	35	c.613 others(52): Show c.613+4638_613+4639insGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242506	A A	ACCTTCCT others(28): Show ACCTTCCTCTATTGATTACCTTCCTCTATTGATTAC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0090 a0001c0002t0003g0090	1	133	0.0075	35	c.613 others(52): Show c.613+4604_613+4605insGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242612	T T	TTCCTCTA others(28): Show TTCCTCTATTGATTACCTTCCTCTATTGATTACCCG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0016 a0003c0011t0001g0016	1	133	0.0075	35	c.613 others(52): Show c.613+4498_613+4499insCGGGTAATCAATAGAGGAAGGTAATCAA TAGAGGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	244228	C C	CCCTTCCT others(28): Show CCCTTCCTCTATTGATTACCCTTCCTCTATTGATTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 NA18983.hp1 others(1): Show HG00408.hp1 HG00544.hp1 NA18983.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0004t0001	a0001c0001t0001g0110 a0001c0001t0003g0081 a0001c0001t0012g0005 others(1): Show a0001c0001t0001g0110 a0001c0001t0003g0081 a0001c0001t0012g0005 a0001c0004t0001g0048	4	133	0.0301	35	c.613 others(52): Show c.613+2882_613+2883insTAATCAATAGAGGAAGGGTAATCAATAG AGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	319893	G G	GGGGGAGG others(28): Show GGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGATTGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02895.hp2 HG03453.hp2 others(1): Show HG02559.hp2 HG02895.hp2 HG03453.hp2 HG03516.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0003 a0007c0014 a0001c0002 a0001c0003 a0007c0014	a0001c0002t0006 a0001c0003t0001 a0001c0003t0030 others(1): Show a0001c0002t0006 a0001c0003t0001 a0001c0003t0030 a0007c0014t0018	a0001c0002t0006g0060 a0001c0003t0001g0068 a0001c0003t0030g0122 others(1): Show a0001c0002t0006g0060 a0001c0003t0001g0068 a0001c0003t0030g0122 a0007c0014t0018g0102	4	133	0.0301	35	c.222 others(50): Show c.222-345_222-344insTCAATCTCCCTCCCCCTCCCTCCCCCTCCC TCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	331255	C C	CAGAGCCA others(28): Show CAGAGCCAAATGCTGCAGAGATGAAGGGAGACGGAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0015 a0001c0001t0010g0015	1	133	0.0075	35	c.-37 others(52): Show c.-37+2469_-37+2503dupTTCCGTCTCCCTTCATCTCTGCAGCATT TGGCTCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	2/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	331256	A A	AGAGCCAA others(28): Show AGAGCCAAATGCTGCAGAGATGAAGGGAGACGGAAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02165.hp2 HG02572.hp1 others(8): Show HG01496.hp2 HG02165.hp2 HG02572.hp1 HG02622.hp2 HG02698.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18999.hp2 NA19004.hp1 NA20805.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0015 others(2): Show a0001c0001 a0001c0003 a0001c0015 a0003c0011 a0004c0007	a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 others(7): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0017 a0001c0001t0035 a0001c0001t0037 a0001c0003t0002 a0001c0015t0007 a0003c0011t0001 a0004c0007t0007	a0001c0001t0007g0097 a0001c0001t0010g0129 a0001c0001t0014g0023 others(8): Show a0001c0001t0007g0097 a0001c0001t0010g0129 a0001c0001t0014g0023 a0001c0001t0014g0106 a0001c0001t0017g0099 a0001c0001t0035g0074 a0001c0001t0037g0058 a0001c0003t0002g0059 a0001c0015t0007g0026 a0003c0011t0001g0016 a0004c0007t0007g0117	11	133	0.0827	35	c.-37 others(52): Show c.-37+2502_-37+2503insCTTCCGTCTCCCTTCATCTCTGCAGCAT TTGGCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	2/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	331286	C C	CAGAAGGA others(28): Show CAGAAGGAGCCAAATGCTGCAGAGATGAAGGGAGAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0113 a0001c0001t0008g0113	1	133	0.0075	35	c.-37 others(52): Show c.-37+2472_-37+2473insATCTCCCTTCATCTCTGCAGCATTTGGC TCCTTCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	2/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	331288	G G	GAAGGAGC others(28): Show GAAGGAGCCAAATGCTGCAGAGATCAAGGGAGATGA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0006 a0001c0001t0012g0006	1	133	0.0075	35	c.-37 others(52): Show c.-37+2470_-37+2471insTCATCTCCCTTGATCTCTGCAGCATTTG GCTCCTT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	2/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	331288	G G	GAAGGAGC others(28): Show GAAGGAGCCAAATGCTGCAGAGATGAAGGGAGATGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(92): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG01070.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02895.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03831.hp2 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18983.hp1 NA18983.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19088.hp1 NA19088.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0002c0005 a0003c0012 a0005c0010 a0006c0009 a0007c0014 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0003t0001 a0001c0003t0018 a0001c0003t0028 a0001c0003t0036 a0001c0004t0001 a0001c0004t0004 a0001c0004t0026 a0001c0006t0004 a0001c0008t0001 a0002c0005t0023 a0003c0012t0005 a0005c0010t0003 a0006c0009t0001 a0007c0014t0018 a0008c0013t0003	a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0027 others(92): Show a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0065 a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0002g0010 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0061 a0001c0001t0002g0079 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0003g0034 a0001c0001t0003g0051 a0001c0001t0003g0081 a0001c0001t0003g0084 a0001c0001t0003g0098 a0001c0001t0003g0101 a0001c0001t0004g0008 a0001c0001t0004g0021 a0001c0001t0004g0039 a0001c0001t0004g0092 a0001c0001t0004g0096 a0001c0001t0004g0121 a0001c0001t0005g0017 a0001c0001t0006g0072 a0001c0001t0006g0095 a0001c0001t0006g0105 a0001c0001t0007g0032 a0001c0001t0008g0042 a0001c0001t0009g0066 a0001c0001t0011g0003 a0001c0001t0011g0007 a0001c0001t0011g0056 a0001c0001t0012g0005 a0001c0001t0012g0053 a0001c0001t0013g0055 a0001c0001t0013g0107 a0001c0001t0013g0108 a0001c0001t0015g0036 a0001c0001t0015g0041 a0001c0001t0016g0082 a0001c0001t0016g0093 a0001c0001t0019g0011 a0001c0001t0019g0012 a0001c0001t0020g0127 a0001c0001t0021g0077 a0001c0001t0022g0071 a0001c0001t0024g0083 a0001c0001t0025g0076 a0001c0001t0027g0118 a0001c0001t0032g0004 a0001c0001t0033g0063 a0001c0001t0034g0018 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0057 a0001c0002t0001g0073 a0001c0002t0001g0123 a0001c0002t0003g0033 a0001c0002t0003g0090 a0001c0002t0009g0126 a0001c0003t0001g0068 a0001c0003t0018g0019 a0001c0003t0028g0088 a0001c0003t0036g0064 a0001c0004t0001g0046 a0001c0004t0001g0048 a0001c0004t0001g0050 a0001c0004t0001g0062 a0001c0004t0001g0078 a0001c0004t0004g0014 a0001c0004t0026g0013 a0001c0006t0004g0022 a0001c0008t0001g0044 a0002c0005t0023g0125 a0003c0012t0005g0020 a0005c0010t0003g0085 a0006c0009t0001g0054 a0007c0014t0018g0102 a0008c0013t0003g0037	95	133	0.7143	35	c.-37 others(52): Show c.-37+2470_-37+2471insTCATCTCCCTTCATCTCTGCAGCATTTG GCTCCTT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	2/9			chr17	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GAGAGAGA others(28): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00639.hp1 HG02148.hp1 NA19066.hp2 HG00639.hp1 HG02148.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0064 a0001c0002t0063 a0001c0002t0065 a0001c0001t0064 a0001c0002t0063 a0001c0002t0065	a0001c0001t0064g0020 a0001c0002t0063g0108 a0001c0002t0065g0173 a0001c0001t0064g0020 a0001c0002t0063g0108 a0001c0002t0065g0173	3	266	0.0113	35	c.-28 others(44): Show c.-285_-284insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36451		chr12	TogoVar
RPIA_chr2_88686673_88755929	88702445	C C	CCTCACAA others(28): Show CCTCACAATCATGGCAGAAAGCAAGGAGGAACAAGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02015.hp2 HG02145.hp2 others(15): Show HG01891.hp1 HG02015.hp2 HG02145.hp2 HG02258.hp2 HG02486.hp2 HG02630.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0299 a0001c0001t0003g0036 a0001c0001t0003g0037 others(13): Show a0001c0001t0001g0299 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312	18	368	0.0489	35	c.402 others(52): Show c.402+2385_402+2419dupACAATCATGGCAGAAAGCAAGGAGGAAC AAGTCTC	RPIA	ENSG00000153574.9	transcript	ENST00000283646.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	276	0.0036	35	c.-17 others(46): Show c.-1706_-1705insTATATATATATATATATATATATATATTTTTTTT T	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	276	0.0036	35	c.-17 others(46): Show c.-1706_-1705insTATATATATATATATATATATTTTTTTTTTTTTT T	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL12_chr9_127442674_127456406	127454047	A A	ATAGAAAG others(28): Show ATAGAAAGACGCAGCCCCTGCCCTTGTGGAACTCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00558.hp1 others(90): Show HG00099.hp1 HG00438.hp1 HG00558.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01255.hp1 HG01257.hp2 HG01346.hp1 HG01361.hp2 HG01515.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02055.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03669.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18959.hp1 NA18962.hp2 NA18966.hp2 NA18972.hp2 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18989.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp2 NA19084.hp1 NA19088.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0002c0003t0001 a0001c0001t0001 a0001c0001t0006 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0016 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0006g0052 a0002c0003t0001g0032	93	400	0.2325	35	c.-27 others(46): Show c.-2731_-2730insGTGAGTTCCACAAGGGCAGGGGCTGCGTCTTTCT A	RPL12	ENSG00000197958.13	transcript	ENST00000361436.10	protein_coding		2642		chr9	TogoVar

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