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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PTP4A3_chr8_141387021_141437454	141429819	G G	GGTCCCCG others(95): Show GGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCTGGTGGCGGGGACAGGGTGAGCGCACAGCC CAC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18983.hp1 NA19079.hp1 NA18747.hp1 NA18983.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0218 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0218	3	323	0.0093	102	c.405 others(119): Show c.405-1039_405-1038insTGGTGGCGGGGACAGGGTGAGCGCACAG CCCACGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACA GTCCGGGTCCCCGCTGTAAGGACC	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTPN22_chr1_113808811_113876712	113871399	C C	CTTTTTTT others(95): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	358	0.0028	102	c.87+ others(115): Show c.87+137_87+138insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	PTPN22	ENSG00000134242.16	transcript	ENST00000359785.10	protein_coding	1/20			chr1	TogoVar
PTPRT_chr20_42067756_43194906	42993449	T T	TATATACA others(95): Show TATATACACACACATATATATGTGTATATATATATACATACACATATATA TGTGTATGTATATATATATACACATATATATGTGTGTGTATATATATATA CAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0001 a0002c0004t0002g0001	1	62	0.0161	102	c.89- others(121): Show c.89-107518_89-107517insGTGTATATATATATACACACACATAT ATATGTGTATATATATATACATACACATATATATGTGTATGTATATATAT ATACACATATATATGTGTGTGTATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42993449	T T	TATATACA others(95): Show TATATACACACATATATATATGTGTATATATATATACATACACATATATA TGTGTATGTATATATATATACACATATATATGTGTGTGTATATATATATA CAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0037 a0001c0008t0005g0037	1	62	0.0161	102	c.89- others(121): Show c.89-107518_89-107517insGTGTATATATATATACACACACATAT ATATGTGTATATATATATACATACACATATATATGTGTATGTATATATAT ATACACATATATATATGTGTGTATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
QPCT_chr2_37339630_37378322	37347202	T T	TAACATAT others(95): Show TAACATATATATAACATATATATAACATATATATAACATATATATAACAT CTATATAACATCTATATAACATCTATATAACATATATATAACATATATAT AAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01934.hp2 HG02083.hp2 others(19): Show HG00544.hp2 HG01934.hp2 HG02083.hp2 HG02129.hp1 NA18941.hp2 NA18946.hp1 NA18952.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18988.hp2 NA18989.hp2 NA18994.hp1 NA19056.hp2 NA19070.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0002 a0004c0005t0001 a0002c0002t0002 a0004c0005t0001	a0002c0002t0002g0009 a0002c0002t0002g0032 a0002c0002t0002g0033 others(13): Show a0002c0002t0002g0009 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0257 a0002c0002t0002g0262 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0276 a0002c0002t0002g0294 a0002c0002t0002g0295 a0002c0002t0002g0296 a0004c0005t0001g0258 a0004c0005t0001g0263 a0004c0005t0001g0264 a0004c0005t0001g0275	22	442	0.0498	102	c.120 others(119): Show c.120+2352_120+2353insACATATATATAACATATATATAACATAT ATATAACATATATATAACATCTATATAACATCTATATAACATCTATATAA CATATATATAACATATATATAACA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QPCT_chr2_37339630_37378322	37347202	T T	TAACATAT others(95): Show TAACATATATATAACATATATATAACATCTATATAACATATATATAACAT CTATATAACATCTATATAACATCTATATAACATATATATAACATATATAT AAC	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19063.hp1 HG02132.hp2 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0037 a0002c0002t0002g0037	2	442	0.0045	102	c.120 others(119): Show c.120+2352_120+2353insACATATATATAACATATATATAACATCT ATATAACATATATATAACATCTATATAACATCTATATAACATCTATATAA CATATATATAACATATATATAACA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QRFPR_chr4_121323642_121386018	121365573	A A	AATATATT others(95): Show AATATATTATATATTATATATATTATATATAATATATTATATATTATATA TTATATATAATATATAATATATTATATATATTATATATAATATATAATAT ATT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01175.hp1 HG01255.hp1 others(3): Show HG01074.hp1 HG01175.hp1 HG01255.hp1 HG01257.hp1 HG01361.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0003 a0001c0001t0005 a0001c0015t0003 a0001c0001t0003 a0001c0001t0005 a0001c0015t0003	a0001c0001t0003g0324 a0001c0001t0003g0329 a0001c0001t0003g0333 others(3): Show a0001c0001t0003g0324 a0001c0001t0003g0329 a0001c0001t0003g0333 a0001c0001t0005g0070 a0001c0001t0005g0106 a0001c0015t0003g0310	6	384	0.0156	102	c.340 others(121): Show c.340+14734_340+14735insAATATATTATATATTATATATAATAT ATATAATATATTATATATTATATATAATATATAATATATAATATATTATA TATAATATATATAATATATAATATAT	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5			chr4	TogoVar
RAD17_chr5_69364818_69419801	69377540	T T	TATATATA others(95): Show TATATATATGCATATATATATGTATACATATATATGCATATATATGTATA CATATATATATGCATATATATGTATACATATATATATGCATATATATGTA TAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02615.hp1 HG02630.hp2 others(5): Show HG01168.hp1 HG02615.hp1 HG02630.hp2 HG02886.hp1 NA18994.hp2 NA19070.hp1 NA19086.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0054 a0001c0001t0001g0101 others(5): Show a0001c0001t0001g0040 a0001c0001t0001g0054 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253	8	359	0.0223	102	c.351 others(119): Show c.351+2847_351+2848insATGTATACATATATATGCATATATATGT ATACATATATATATGCATATATATGTATACATATATATATGCATATATAT GTATACATATATATGCATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD17_chr5_69364818_69419801	69377586	C C	CATATATA others(95): Show CATATATATGCATATATATGTATACATATATATATGCATATATATGTATA CATATATATGCATATATATGTATACATATATATGCATATATATATGTATA CAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18999.hp2 HG04204.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0108 a0001c0001t0001g0114	2	359	0.0056	102	c.351 others(119): Show c.351+2883_351+2884insGCATATATATGTATACATATATATATGC ATATATATGTATACATATATATGCATATATATGTATACATATATATGCAT ATATATATGTATACATATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD17_chr5_69364818_69419801	69377588	T T	TATATATA others(95): Show TATATATATGCATATATATGTATACATATATATATATGCATATATATGTA TACATATATATGCATATATATGTATACATATATATGCATATATATATGTA TAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03209.hp1 HG03471.hp2 HG02572.hp2 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060	3	359	0.0084	102	c.351 others(119): Show c.351+2895_351+2896insGTATACATATATATATATGCATATATAT GTATACATATATATGCATATATATGTATACATATATATGCATATATATAT GTATACATATATATGCATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD17_chr5_69364818_69419801	69377594	T T	TATGCATA others(95): Show TATGCATATATATGCATATATATGTATGCATATATATATGCATATATATG TATACATATATATGCATATATATATGCATACATATATATGCATACATATA TGC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	359	0.0028	102	c.351 others(119): Show c.351+2895_351+2896insGCATATATATGTATGCATATATATATGC ATATATATGTATACATATATATGCATATATATATGCATACATATATATGC ATACATATATGCATGCATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(95): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGAGGGGGTGGGGGGAGGGGGGTGGGGGGAGGGGGGAGGGGGTGGGG GAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02109.hp2 HG03453.hp2 others(2): Show HG00639.hp2 HG02109.hp2 HG03453.hp2 HG03516.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0040 a0001c0001t0001 a0001c0001t0040	a0001c0001t0001g0003 a0001c0001t0001g0132 a0001c0001t0040g0123 a0001c0001t0001g0003 a0001c0001t0001g0132 a0001c0001t0040g0123	5	400	0.0125	102	c.-34 others(113): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCC TCCCCCCACCCCCTCCCCCTCCCCCCACCCCCTCCCTTCCCCCCTCCCCC CACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(95): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGGAGGGGGTGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGTGGGG GAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01975.hp2 others(2): Show HG01257.hp1 HG01258.hp2 HG01975.hp2 HG02273.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0005 a0001c0001t0005g0095 a0001c0001t0006g0013 a0001c0001t0005g0005 a0001c0001t0005g0095 a0001c0001t0006g0013	5	400	0.0125	102	c.-34 others(113): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCCTCCCCCC TCCCCCACCCCCTCCCCCCTCCCCCCACCCCCTCCCTTCCCCCCTCCCCC CACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(95): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGGAGGGGTGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGTGGGGG AGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	400	0.0025	102	c.-34 others(113): Show c.-3413_-3412insCCTCCCCCACCCCCTCCCCCCTCCCCCCTCCCCC CTCCCCCACCCCTCCCCCCTCCCCCCACCCCCTCCCTTCCCCCCTCCCCC CACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAE1_chr20_57346255_57384202	57350857	C C	CGGGGGAC others(95): Show CGGGGGACGGGGGACGGGGGACGGGGGGCGGGGGGGACGGGGGACGGGGG GCGGGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGCGGGGGGGGCGGGGG CCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	342	0.0029	102	c.-57 others(111): Show c.-573_-572insGGGGGACGGGGGACGGGGGACGGGGGGCGGGGGGGA CGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGCG GGGGGGGCGGGGGCCG	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		397		chr20	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(95): Show TATATATATATATATATATATATATATATATATATATATATATATATATA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0182 a0001c0002t0001g0182	1	372	0.0027	102	c.-14 others(121): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATAT ATATATATATATATATATATATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(95): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG03654.hp2 HG02300.hp2 HG03654.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0010 a0001c0002t0001 a0002c0001t0010	a0001c0002t0001g0262 a0002c0001t0010g0261 a0001c0002t0001g0262 a0002c0001t0010g0261	2	372	0.0054	102	c.-14 others(121): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATATAT ATATATATATATATATATATATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RASA3_chr13_113972783_114137623	114099697	A A	ACAGCCCC others(95): Show ACAGCCCCCACAGCAGCCCCCCCACAGCAGCCCCCCCACAGCCCCCCACA GCCCCCCCAGCAGCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCC CCC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	67	0.0149	102	c.56- others(119): Show c.56-25861_56-25860insGGGGGGCTGTGGGGGGGCTGTGGGGGGG CTGCTGTGGGGGCTGCTGGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCT GTGGGGGGGCTGCTGTGGGGGCTG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114113567	C C	CGGCGAGT others(95): Show CGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACCCACC ATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACCCAC CAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	67	0.0149	102	c.55+ others(119): Show c.55+18867_55+18868insATGGTGGGTGGACTGATGGACGCGGTGT GAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCGGTG TGAGCTGTACGGACATCACTCGCC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114113618	C C	CGGCGAGT others(95): Show CGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACCCACC ATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACCCAC CAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0029 a0002c0004t0004g0029	1	67	0.0149	102	c.55+ others(119): Show c.55+18715_55+18816dupATGGTGGGTGGACTGATGGACGCGGTGT GAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCGGTG TGAGCTGTACGGACATCACTCGCC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBBP6_chr16_24534566_24577863	24575771	G G	GAGGGAGG others(95): Show GAGGGAGGAGAGGGAGGAGGGGGAGAGGGAGAGGGAGGAGAGGGAGGAGA GGGAGAGGGAGAGGGAGGAGGGAGAGGGAGGAGAGGGAGAGGGAGAGGGA GGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	336	0.0030	102	c.33 others(113): Show c.3326_*3327insAGGGAGGAGAGGGAGGAGGGGGAGAGGGAGAGGG AGGAGAGGGAGGAGAGGGAGAGGGAGAGGGAGGAGGGAGAGGGAGGAGAG GGAGAGGGAGAGGGAGGA	RBBP6	ENSG00000122257.20	transcript	ENST00000319715.10	protein_coding		2909		chr16	TogoVar
RBBP6_chr16_24534566_24577863	24575786	G G	GGAGGGGG others(95): Show GGAGGGGGAGAGGGAGAGGGAGGAGAGGGAGGAGAGGGAGAGGGAGAGGG AGGAGGGAGAGAGGGAGGAGAGGGAGGAGAGGGAGAGGGAGAGGGAGGAG GGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0057 a0001c0002t0009g0057	1	336	0.0030	102	c.33 others(113): Show c.3341_*3342insGAGGGGGAGAGGGAGAGGGAGGAGAGGGAGGAGA GGGAGAGGGAGAGGGAGGAGGGAGAGAGGGAGGAGAGGGAGGAGAGGGAG AGGGAGAGGGAGGAGGGA	RBBP6	ENSG00000122257.20	transcript	ENST00000319715.10	protein_coding		2924		chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6256175	A A	ATATATGT others(95): Show ATATATGTATATATATGTATATATATGTATATATATACGTATATATATGT ATATATATACGTATATATATGTATATATATATGTATATATATGTATATAT ATG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0065 a0001c0001t0035g0065	1	68	0.0147	102	c.-12 others(123): Show c.-126-60815_-126-60814insGTATATATATGTATATATATGTAT ATATATACGTATATATATGTATATATATACGTATATATATGTATATATAT ATGTATATATATGTATATATATGTATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6450845	A A	ATATATAC others(95): Show ATATATACATATATATATACATATATATATGTATATATATATGTATATAT ATATACATATATATATACATATATATATGTATATATATATATACATATAT ATG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0001 a0001c0001t0029g0001	1	68	0.0147	102	c.-64 others(123): Show c.-64+133794_-64+133795insCATATATATATACATATATATATG TATATATATATGTATATATATATACATATATATATACATATATATATGTA TATATATATATACATATATATGTATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7683010	G G	GTATATAT others(95): Show GTATATATACACACACACATATATACGTATATATATGTGTGTGTGTATAT ATACACACACACATATATATACGTATATATGTGTGTGTGTATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	68	0.0147	102	c.995 others(119): Show c.995+6180_995+6181insCACACACACATATATACGTATATATATG TGTGTGTGTATATATACACACACACATATATATACGTATATATGTGTGTG TGTATATATATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7683010	G G	GTGTATAT others(95): Show GTGTATATATACACACACACACACATATATACGTATATATATGTGTGTGT ATATATACACACACACATATATACGTATATATGTGTGTGTGTGTGTATAT ATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0022 a0001c0001t0042g0022	1	68	0.0147	102	c.995 others(119): Show c.995+6173_995+6174insGTATATATACACACACACACACATATAT ACGTATATATATGTGTGTGTATATATACACACACACATATATACGTATAT ATGTGTGTGTGTGTGTATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTATATAT others(95): Show GTATATATACACACACACATATATACGTATATATATGTGTGTGTGTATAT ATACACACACACATATATATACGTATATATGTGTGTGTGTATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0194 a0001c0003t0004g0194	1	234	0.0043	102	c.105 others(121): Show c.1058+6180_1058+6181insCACACACACATATATACGTATATATA TGTGTGTGTGTATATATACACACACACATATATATACGTATATATGTGTG TGTGTATATATATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTGTATAT others(95): Show GTGTATATATACACACACACACACATATATACGTATATATATGTGTGTGT ATATATACACACACACATATATACGTATATATGTGTGTGTGTGTGTATAT ATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0064 a0001c0003t0005g0064	1	234	0.0043	102	c.105 others(121): Show c.1058+6173_1058+6174insGTATATATACACACACACACACATAT ATACGTATATATATGTGTGTGTATATATACACACACACATATATACGTAT ATATGTGTGTGTGTGTGTATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTGTATAT others(95): Show GTGTATATATACACACACACACATATATACGTATATATATGTGTGTGTGT ATATATACACACACACATATATACGTATATATGTGTGTGTGTGTGTGTAT ATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0213 a0001c0001t0043g0213	1	234	0.0043	102	c.105 others(121): Show c.1058+6173_1058+6174insGTATATATACACACACACACATATAT ACGTATATATATGTGTGTGTGTATATATACACACACACATATATACGTAT ATATGTGTGTGTGTGTGTGTATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTGTATAT others(95): Show GTGTATATATACACACACATATATACGTATATATATGTGTGTGTGTATAT ATACACACACACATATATACGTATATATGTGTGTGTGTGTATATATATAT ATA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0139 a0001c0001t0025g0139	1	234	0.0043	102	c.105 others(121): Show c.1058+6173_1058+6174insGTATATATACACACACATATATACGT ATATATATGTGTGTGTGTATATATACACACACACATATATACGTATATAT GTGTGTGTGTGTATATATATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RCHY1_chr4_75474033_75519403	75487682	T T	TATATATA others(95): Show TATATATATTCATATATATATTCATAATATATATTCATATATATATATTC ATAATATATATTCATATATATATTCATAATATATATTCATATATATATTC ATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01346.hp1 others(18): Show HG00323.hp1 HG00639.hp2 HG01346.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02155.hp2 NA18747.hp1 NA18948.hp1 NA18950.hp1 NA18961.hp1 NA18991.hp1 NA18999.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19077.hp2 NA19082.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0014 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0014 a0001c0001t0021	a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0029 others(16): Show a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0029 a0001c0001t0003g0047 a0001c0001t0003g0084 a0001c0001t0003g0088 a0001c0001t0003g0094 a0001c0001t0003g0100 a0001c0001t0003g0114 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0132 a0001c0001t0008g0053 a0001c0001t0008g0066 a0001c0001t0008g0068 a0001c0001t0008g0093 a0001c0001t0014g0032 a0001c0001t0021g0092	21	406	0.0517	102	c.657 others(119): Show c.657+2898_657+2899insTATGAATATATATATGAATATATATTAT GAATATATATATGAATATATATTATGAATATATATATATGAATATATATT ATGAATATATATATGAATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
REPS2_chrX_16941658_17158272	16965031	G G	GGGCGGGG others(95): Show GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGCGGCTGGCCGG GCAGAGTGGCTCCTCACTTCCCAGTAGGGGCGCCCGGACGGGGCAGCTGG CCA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0057 a0001c0001t0018g0057	1	166	0.0060	102	c.273 others(121): Show c.273+17928_273+17929insGGACGGGCGGCTGGCCGGGCAGAGTG GCTCCTCACTTCCCAGTAGGGGCGCCCGGACGGGGCAGCTGGCCAGGCGG GGGGCTGACCCCCCCACCTCCCTCCC	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RERGL_chr12_18075869_18095193	18090862	A A	AAAAAAAA others(95): Show AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAGACAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAATA AAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0044 a0002c0002t0002g0044	1	402	0.0025	102	c.-72 others(111): Show c.-723_-722insATTTATTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGTCTTTTTTTTTTTTTTTTTTTCTTTT TTTTTTTTTTTTTTTT	RERGL	ENSG00000111404.7	transcript	ENST00000538724.6	protein_coding		670		chr12	TogoVar
RGL1_chr1_183800120_183933532	183887206	T T	TCCTGTCC others(95): Show TCCTGTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT TCTTTCCTCCCTCCCTCCCTCCCTCTCTTTCTTTGTTTCTCTCTTTCTCT CTC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0005	1	296	0.0034	102	c.952 others(119): Show c.952-1267_952-1266insCTGTCCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTTCCTTCCTTCCTTCTTTCCTCCCTCCCTCCCTCCCTCTCTTT CTTTGTTTCTCTCTTTCTCTCTCC	RGL1	ENSG00000143344.16	transcript	ENST00000360851.4	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGPD2_chr2_87750960_87830796	87824714	G G	GGCCGCCG others(95): Show GGCCGCCGCCGCCGCCCGGCCAGGCCGAGGCCGCCGCCGCCGCCGCCCGG CCAGGCCGAGGCCGCCGCCGCCGCCGCCCGGCCAGGCCGAGGCCGCCGCC GCC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0075 a0004c0005t0001g0075	1	176	0.0057	102	c.72+ others(115): Show c.72+943_72+944insGGCGGCGGCGGCCTCGGCCTGGCCGGGCGGCG GCGGCGGCGGCCTCGGCCTGGCCGGGCGGCGGCGGCGGCGGCCTCGGCCT GGCCGGGCGGCGGCGGCGGC	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGPD2_chr2_87750960_87830796	87824786	G G	GCCGCCGC others(95): Show GCCGCCGCCGCCGCCGCCGCCGCCCGGCCAGGCCGAGGCCGAGGCCGAGG CCGCCGCCGCCGCCGCCCGGCCAGGCCGAGGCCGCCGCCGCCGCCGCCCG GCC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	176	0.0057	102	c.72+ others(115): Show c.72+871_72+872insGGCCGGGCGGCGGCGGCGGCGGCCTCGGCCTG GCCGGGCGGCGGCGGCGGCGGCCTCGGCCTCGGCCTCGGCCTGGCCGGGC GGCGGCGGCGGCGGCGGCGG	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGPD5_chr2_109789305_109862705	109823546	C C	CCTTTTCT others(95): Show CCTTTTCTTTTCTTTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCT TCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCT TCT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0016 a0003c0003t0016	a0003c0003t0016g0030 a0003c0003t0016g0030	1	40	0.0250	102	c.127 others(119): Show c.1277-659_1277-658insCTTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTTCTCTTTTCTTTTCTTTTCT	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGS12_chr4_3288021_3444913	3341671	G G	GGAGGGTG others(95): Show GGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGG GGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGT GGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01346.hp2 HG00140.hp1 HG01346.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0032 a0001c0007t0001g0033 a0001c0007t0001g0032 a0001c0007t0001g0033	2	312	0.0064	102	c.188 others(121): Show c.1882-1263_1882-1262insGGTGGAGAGTTGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATG GGGGTGTGGGGAGGGAGGGTGGAGAG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RHOB_chr2_20442074_20454440	20445896	A A	ATATTGTA others(95): Show ATATTGTACATTCTATTGTACAATAGTGTATATTCTATTGTACATTCTAT TGTACAATAGTGTATATTCTATTGTACATTCTATTGTACAATAGTGTATA TTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	368	0.0027	102	c.-15 others(113): Show c.-1570_-1569insTATTGTACATTCTATTGTACAATAGTGTATATTC TATTGTACATTCTATTGTACAATAGTGTATATTCTATTGTACATTCTATT GTACAATAGTGTATATTC	RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding		1177		chr2	TogoVar
RIOK2_chr5_97155867_97188247	97179996	T T	TATATATA others(95): Show TATATATATAATATATATAATATATATATTATATATATATAAAATATATA TATAATATATATAATATATATTATATATAATATATATATTATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02280.hp2 HG02559.hp2 others(4): Show HG01123.hp2 HG02280.hp2 HG02559.hp2 HG03239.hp1 HG03710.hp2 HG03834.hp1 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0030 a0003c0003t0008 a0003c0003t0030	a0003c0003t0008g0024 a0003c0003t0008g0234 a0003c0003t0008g0235 others(2): Show a0003c0003t0008g0024 a0003c0003t0008g0234 a0003c0003t0008g0235 a0003c0003t0008g0237 a0003c0003t0030g0236	7	410	0.0171	102	c.67- others(115): Show c.67-804_67-803insTATATATATATATAATATATATATTATATATA ATATATATTATATATATTATATATATATTTTATATATATATAATATATAT ATTATATATATTATATATAT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIPOR2_chr6_24799284_24940960	24927185	C C	CTACAACT others(95): Show CTACAACTACAATCACCACCACCACCACTACAACTACAGTTACCACCACC ATCACCACCACCACCACCACAACTACAATCACCACCACCACCACTACCAC CAG	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19077.hp2 NA19054.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0280 a0002c0002t0005g0281 a0002c0002t0005g0280 a0002c0002t0005g0281	2	328	0.0061	102	c.61+ others(117): Show c.61+8652_61+8653insCTGGTGGTAGTGGTGGTGGTGGTGATTGTA GTTGTGGTGGTGGTGGTGGTGATGGTGGTGGTAACTGTAGTTGTAGTGGT GGTGGTGGTGATTGTAGTTGTA	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RNF17_chr13_24759169_24884921	24881850	A A	ATCTATAT others(95): Show ATCTATATAGATACATCTATATAGATATATAGATACATCTATATAGATAT ATAGATACATCTATATAGATATATAGATACCTCTATATAGATATATAGAT ACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18957.hp1 NA18951.hp1 NA18957.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0002 a0012c0017t0002	a0012c0017t0002g0301 a0012c0017t0002g0302 a0012c0017t0002g0301 a0012c0017t0002g0302	2	426	0.0047	102	c.21 others(113): Show c.2124_*2125insTCTATATAGATACATCTATATAGATATATAGATA CATCTATATAGATATATAGATACATCTATATAGATATATAGATACCTCTA TATAGATATATAGATACC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1930		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882089	T T	TATAGATA others(95): Show TATAGATACATCTATATAGATACATCTATATAGATACATCTATATAGATA CATCTATATAGATACATCTATATAGATACATCTATATAGATACATCTATA TAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0001 a0014c0019t0001	a0014c0019t0001g0420 a0014c0019t0001g0420	1	426	0.0024	102	c.23 others(113): Show c.2363_*2364insATAGATACATCTATATAGATACATCTATATAGAT ACATCTATATAGATACATCTATATAGATACATCTATATAGATACATCTAT ATAGATACATCTATATAG	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2169		chr13	TogoVar
RNF213_chr17_80255852_80403794	80314418	G G	GAGGTACT others(95): Show GAGGTACTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGA GGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTGGTGGAGGTAATGGAGG TGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01884.hp1 HG01069.hp2 HG01071.hp2 HG01884.hp1	a0002 a0030 a0002 a0030	a0002c0002 a0030c0110 a0002c0002 a0030c0110	a0002c0002t0032 a0030c0110t0076 a0002c0002t0032 a0030c0110t0076	a0002c0002t0032g0001 a0030c0110t0076g0171 a0002c0002t0032g0001 a0030c0110t0076g0171	3	292	0.0103	102	c.281 others(121): Show c.2811+1251_2811+1252insAGGTACTGGAGGTGATGGTGGTGGTG AAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGATGGT GGAGGTGGTGGAGGTAATGGAGGTGA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67			chr17	TogoVar
RNF213_chr17_80255852_80403794	80314604	G G	GTGGTAAA others(95): Show GTGGTAAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGACGTGAT GGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGAGGTACTGGAGG TGA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA19062.hp2 NA18973.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0226 a0001c0001t0002g0227 a0001c0001t0001g0226 a0001c0001t0002g0227	2	292	0.0069	102	c.281 others(121): Show c.2811+1441_2811+1442insAAAGGTGATGGTGGAGGTACTGGAGG TGATGGTGGTGGACGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTG GTGGTGGAGGTACTGGAGGTGATGGT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314689	T T	TGTAGGTG others(95): Show TGTAGGTGATGGTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTA ATGGAGGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTGGTGGAGGTAAT GGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG00280.hp2 HG00733.hp2	a0022 a0049 a0022 a0049	a0022c0090 a0049c0093 a0022c0090 a0049c0093	a0022c0090t0008 a0049c0093t0001 a0022c0090t0008 a0049c0093t0001	a0022c0090t0008g0092 a0049c0093t0001g0101 a0022c0090t0008g0092 a0049c0093t0001g0101	2	292	0.0069	102	c.281 others(121): Show c.2811+1523_2811+1524insTAGGTGATGGTGGAGGTGATGGTGGT GGTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGA TGGTGGAGGTGGTGGAGGTAATGGAG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314694	G G	GAGGTACT others(95): Show GAGGTACTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGA GGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTGGTGGAGGTAATGGAGG TGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0030 a0030	a0030c0110 a0030c0110	a0030c0110t0076 a0030c0110t0076	a0030c0110t0076g0171 a0030c0110t0076g0171	1	292	0.0034	102	c.281 others(121): Show c.2811+1527_2811+1528insAGGTACTGGAGGTGATGGTGGTGGTG AAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGATGGT GGAGGTGGTGGAGGTAATGGAGGTGA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67			chr17	TogoVar
RNF24_chr20_3922311_4020558	4008376	A A	ATATAATA others(95): Show ATATAATATATAATATATATAATATATATATAATATATAATATGTATAAT ATATATAATATATAATATGTATAATATATATATTATATATAATATATAAT ATG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0248 a0001c0001t0055g0248	1	362	0.0028	102	c.-8+ others(117): Show c.-8+7060_-8+7061insCATATTATATATTATATATAATATATATAT TATACATATTATATATTATATATATTATACATATTATATATTATATATAT ATTATATATATTATATATTATA	RNF24	ENSG00000101236.17	transcript	ENST00000358395.11	protein_coding	1/5			chr20	TogoVar
RNGTT_chr6_88604897_88968618	88697956	T T	TATATATA others(95): Show TATATATATATGAAATACATATATGATATATATATGAAATACATATATAT GATATATATATGAAATACATATATATGATATATATATGAAATACATATAT ATG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	220	0.0046	102	c.144 others(123): Show c.1440-19538_1440-19537insCATATATATGTATTTCATATATAT ATCATATATATGTATTTCATATATATATCATATATATGTATTTCATATAT ATATCATATATGTATTTCATATATATAT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88698112	T T	TATATATA others(95): Show TATATATATGAAATACATATATATGATATATATATGAAATACATATATAT GATATATATATGAAATACATATATATGATATATATATGAAATACATATAT ATG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	220	0.0046	102	c.144 others(123): Show c.1440-19694_1440-19693insCATATATATGTATTTCATATATAT ATCATATATATGTATTTCATATATATATCATATATATGTATTTCATATAT ATATCATATATATGTATTTCATATATAT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar

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