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
PRR7_chr5_177441814_177461286	177451316	C C	CAGCCTGC others(101): Show CAGCCTGCTTCGGAGAGTGAGTGTGGAGCCCACCCTCAGGCAGGGAGCAC CCTGTAGCCTGCTTCGGAGAGTGAGTGTGGAGCCCACCCTCAGGCAGGGA GCACCCTGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	332	0.0030	108	c.-32 others(127): Show c.-324-2559_-324-2452dupGCCCACCCTCAGGCAGGGAGCACCCT GTAGCCTGCTTCGGAGAGTGAGTGTGGAGCCCACCCTCAGGCAGGGAGCA CCCTGTAGCCTGCTTCGGAGAGTGAGTGTGGA	PRR7	ENSG00000131188.12	transcript	ENST00000323249.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRRX1_chr1_170659131_170744421	170682343	T T	TAAGCCTG others(101): Show TAAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGAC AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0345 a0001c0001t0027g0345	1	356	0.0028	108	c.241 others(127): Show c.241+17887_241+17888insCCTGCAGTGAGCCGAGATTGCGCCAC TGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRX2_chr9_129660647_129727674	129720152	C C	CCTCAGCA others(101): Show CCTCAGCAAGCGCCTCTCCCCGCGAGTCCTCAGCAAGCGCCTCTCCCCGC GAGTGCTCAGCAAGCCCCTCTCCCCGCGAGTGCTCAGCAAGAGCCTCTCC CCCCGAGTG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	358	0.0028	108	c.448 others(123): Show c.448-423_448-316dupGCGAGTCCTCAGCAAGCGCCTCTCCCCGCG AGTGCTCAGCAAGCCCCTCTCCCCGCGAGTGCTCAGCAAGAGCCTCTCCC CCCGAGTGCTCAGCAAGCGCCTCTCCCC	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSD3_chr8_18522303_19018703	18949244	A A	AAAAAAAA others(101): Show AAAAAAAAAAAATATATATATATATATATATATATATACACATATATATA TATATATATATACACATATATATATATATATATACACATATATATATATA TATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0093 a0003c0004t0003g0093	1	228	0.0044	108	c.22- others(125): Show c.22-13103_22-13102insATATATATATATATATATATATGTGTAT ATATATATATATATATGTGTATATATATATATATATATATGTGTATATAT ATATATATATATATATATATTTTTTTTTTT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	1/15			chr8	TogoVar
PSME4_chr2_53859069_53975993	53940919	T T	TATATATA others(101): Show TATATATATATAATACATATTTAAATATATATAATACATATTTAAATATA TATAATACATATATAAATATATATATATACATATTTAAATATATATAATA CATATTTAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0357 a0002c0002t0002g0357	1	384	0.0026	108	c.501 others(123): Show c.501-920_501-919insTTAAATATGTATTATATATATTTAAATATG TATATATATATATTTATATATGTATTATATATATTTAAATATGTATTATA TATATTTAAATATGTATTATATATATAT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	3/46			chr2	TogoVar
PTHLH_chr12_27953084_27977733	27961276	C C	CATATATA others(101): Show CATATATATACGTATATATATATACGTATATATATATACGTATATATATA TACGTATATATATACGTATATATATATACGTATATATATATACGTATATA TATACGTAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01192.hp2 HG02015.hp1 others(15): Show HG00099.hp2 HG01192.hp2 HG02015.hp1 HG02129.hp2 HG02148.hp1 HG03017.hp2 NA18940.hp1 NA18944.hp1 NA18946.hp1 NA18952.hp2 NA18955.hp1 NA18964.hp1 NA18974.hp1 NA18980.hp1 NA18986.hp2 NA19074.hp1 NA19077.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0060 a0001c0001t0001g0188 a0001c0001t0001g0218 others(9): Show a0001c0001t0001g0060 a0001c0001t0001g0188 a0001c0001t0001g0218 a0001c0001t0002g0018 a0001c0001t0002g0049 a0001c0001t0002g0063 a0001c0001t0002g0097 a0001c0001t0002g0115 a0001c0001t0002g0139 a0001c0001t0002g0144 a0001c0001t0002g0174 a0001c0001t0005g0065	18	456	0.0395	108	c.524 others(125): Show c.524+2071_524+2072insATACGTATATATATACGTATATATATAT ACGTATATATATATACGTATATATATACGTATATATATATACGTATATAT ATATACGTATATATATATACGTATATATAT	PTHLH	ENSG00000087494.16	transcript	ENST00000545234.6	protein_coding	5/5			chr12	TogoVar
PTHLH_chr12_27953084_27977733	27961301	G G	GTATATAT others(101): Show GTATATATATACGTATATATATATACGTATATATATACGTATATATATAT ACGTATATATATATACGTATATATATACGTATATATATATACGTATATAT ATATACGTA	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19003.hp1 NA21309.hp2 HG02809.hp1 NA19003.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0101 a0001c0001t0002g0152 a0001c0001t0002g0154	3	456	0.0066	108	c.524 others(125): Show c.524+2046_524+2047insTACGTATATATATATACGTATATATATA TACGTATATATATACGTATATATATATACGTATATATATATACGTATATA TATACGTATATATATATACGTATATATATA	PTHLH	ENSG00000087494.16	transcript	ENST00000545234.6	protein_coding	5/5			chr12	TogoVar
PTHLH_chr12_27953084_27977733	27961301	G G	GTATATAT others(101): Show GTATATATATATACGTATATATATACGTATATATATACGTATATATATAT ACGTATATATATATACGTATATATATACGTATATATATATACGTATATAT ATATACGTA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	456	0.0022	108	c.524 others(125): Show c.524+2046_524+2047insTACGTATATATATATACGTATATATATA TACGTATATATATACGTATATATATATACGTATATATATATACGTATATA TATACGTATATATATACGTATATATATATA	PTHLH	ENSG00000087494.16	transcript	ENST00000545234.6	protein_coding	5/5			chr12	TogoVar
PTHLH_chr12_27953084_27977733	27961301	G G	GTATATAT others(101): Show GTATATATATATACGTATATATATATACGTATATATATACGTATATATAT ATACGTATATATATACGTATATATATACGTATATATATATACGTATATAT ATATACGTA	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	456	0.0022	108	c.524 others(125): Show c.524+2046_524+2047insTACGTATATATATATACGTATATATATA TACGTATATATATACGTATATATATACGTATATATATATACGTATATATA TACGTATATATATATACGTATATATATATA	PTHLH	ENSG00000087494.16	transcript	ENST00000545234.6	protein_coding	5/5			chr12	TogoVar
PTHLH_chr12_27953084_27977733	27961301	G G	GTATATAT others(101): Show GTATATATATATACGTATATATATATACGTATATATATACGTATATATAT ATACGTATATATATATACGTATATATATACGTATATATATACGTATATAT ATATACGTA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp2 HG02523.hp2 others(1): Show HG02273.hp1 HG02273.hp2 HG02523.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0149 a0001c0001t0002g0081 a0001c0001t0002g0116 others(1): Show a0001c0001t0001g0149 a0001c0001t0002g0081 a0001c0001t0002g0116 a0001c0001t0002g0157	4	456	0.0088	108	c.524 others(125): Show c.524+2046_524+2047insTACGTATATATATATACGTATATATATA CGTATATATATACGTATATATATATACGTATATATATATACGTATATATA TACGTATATATATATACGTATATATATATA	PTHLH	ENSG00000087494.16	transcript	ENST00000545234.6	protein_coding	5/5			chr12	TogoVar
PTMA_chr2_231703525_231718551	231715726	T T	TGGACTCC others(101): Show TGGACTCCATGCACCCTCACTGGACTCCATGCACCCTCACTGGACTCCAC GCACCCTCACTCACCGGACTCCACGCACCCTCACTGGACTCCACGCACCC TCACTCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	392	0.0026	108	c.28 others(119): Show c.2875_*2876insGGACTCCATGCACCCTCACTGGACTCCATGCACC CTCACTGGACTCCACGCACCCTCACTCACCGGACTCCACGCACCCTCACT GGACTCCACGCACCCTCACTCACC	PTMA	ENSG00000187514.17	transcript	ENST00000409115.8	protein_coding		2176		chr2	TogoVar
PTMA_chr2_231703525_231718551	231715868	A A	ACTCACTG others(101): Show ACTCACTGGACTCCACGCACCCTCACTGGACTCCACGCACCCTCACTCAC TGGACTCCACGCACCCTCACTGGACTCCACGCACCCTCACTCACTGGACT CCACGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	392	0.0026	108	c.30 others(119): Show c.3017_*3018insCTCACTGGACTCCACGCACCCTCACTGGACTCCA CGCACCCTCACTCACTGGACTCCACGCACCCTCACTGGACTCCACGCACC CTCACTCACTGGACTCCACGCACC	PTMA	ENSG00000187514.17	transcript	ENST00000409115.8	protein_coding		2318		chr2	TogoVar
PTPRB_chr12_70510870_70642429	70626292	C C	CATCCATC others(101): Show CATCCATCTATCTATCTATCTATCTATCGTGCCTTTTTAACAGAGAGCAA ATCATCTGGAAAAAAGATAACAAATGAAACAGGAGATACTTTAGAAAAGG ATGATGTCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02896.hp1 HG03579.hp2 HG02145.hp1 HG02896.hp1 HG03579.hp2	a0002 a0002	a0002c0007 a0002c0019 a0002c0007 a0002c0019	a0002c0007t0026 a0002c0019t0006 a0002c0019t0018 a0002c0007t0026 a0002c0019t0006 a0002c0019t0018	a0002c0007t0026g0004 a0002c0019t0006g0005 a0002c0019t0018g0009 a0002c0007t0026g0004 a0002c0019t0006g0005 a0002c0019t0018g0009	3	300	0.0100	108	c.452 others(125): Show c.452-3647_452-3646insAGACATCATCCTTTTCTAAAGTATCTCC TGTTTCATTTGTTATCTTTTTTCCAGATGATTTGCTCTCTGTTAAAAAGG CACGATAGATAGATAGATAGATAGATGGAT	PTPRB	ENSG00000127329.16	transcript	ENST00000334414.11	protein_coding	2/33			chr12	TogoVar
PTPRT_chr20_42067756_43194906	42993456	A A	ATATACAC others(101): Show ATATACACATATATATATGTGTATATATATATACATACACATATATATGT GTATGTATATATATATACACATATATATGTGTGTGTATATATATATACAC ATATATATG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02897.hp2 HG02647.hp1 HG02897.hp2	a0001 a0001	a0001c0026 a0001c0029 a0001c0026 a0001c0029	a0001c0026t0007 a0001c0029t0013 a0001c0026t0007 a0001c0029t0013	a0001c0026t0007g0059 a0001c0029t0013g0057 a0001c0026t0007g0059 a0001c0029t0013g0057	2	62	0.0323	108	c.89- others(127): Show c.89-107525_89-107524insCATATATATGTGTATATATATATACA CACACATATATATGTGTATATATATATACATACACATATATATGTGTATG TATATATATATACACATATATATATGTGTATA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PUM1_chr1_30926506_31070717	30972450	A A	AGGGGAGG others(101): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGG	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0307 a0001c0002t0004g0307	1	334	0.0030	108	c.150 others(127): Show c.1506+2200_1506+2201insCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PWWP2B_chr10_132392200_132422859	132392560	A A	AATGGTGA others(101): Show AATGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATG ATGATGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	374	0.0027	108	c.-46 others(119): Show c.-4667_-4666insATGGTGATGATGGTGATGGTGATGATGGTGATGG TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATG GGGGTGGTGGTAATGATGATGGTG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4639		chr10	TogoVar
QPCT_chr2_37339630_37378322	37347170	T T	TATATATA others(101): Show TATATATATATATATATATATCATATATATAACATATATATAACATATAT ATATAACATATATATAACATATATATAACATATATATATAACATATATAT ATATATAAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0231 a0001c0003t0003g0231	1	442	0.0023	108	c.120 others(125): Show c.120+2328_120+2329insTATATATATATCATATATATAACATATA TATAACATATATATATAACATATATATAACATATATATAACATATATATA TAACATATATATATATATAACATATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QPCT_chr2_37339630_37378322	37347196	T T	TATATATA others(101): Show TATATATAACATATATATAACATATATATAACATATATATAACATATATA TAACATATATATAACATATATATAACATCTATATAACATCTATATAACAT ATATATAAC	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0248 a0002c0002t0002g0248	1	442	0.0023	108	c.120 others(125): Show c.120+2352_120+2353insACATATATATAACATATATATAACATAT ATATAACATATATATAACATATATATAACATATATATAACATCTATATAA CATCTATATAACATATATATAACATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QPCT_chr2_37339630_37378322	37347196	T T	TATATATA others(101): Show TATATATAACATATATATAACATATATATAACATATATATAACATATATA TAACATATATATAACATCTATATAACATCTATATAACATCTATATAACAT ATATATAAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01192.hp2 HG01975.hp2 others(16): Show HG00438.hp2 HG01192.hp2 HG01975.hp2 HG02074.hp2 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18962.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA18986.hp1 NA19005.hp2 NA19058.hp1 NA19062.hp2 NA19078.hp1 NA19079.hp2 NA19086.hp2 NA19090.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0004 a0004c0005 a0002c0002 a0003c0004 a0004c0005	a0002c0002t0002 a0003c0004t0002 a0004c0005t0001 others(1): Show a0002c0002t0002 a0003c0004t0002 a0004c0005t0001 a0004c0005t0002	a0002c0002t0002g0038 a0002c0002t0002g0249 a0002c0002t0002g0253 others(13): Show a0002c0002t0002g0038 a0002c0002t0002g0249 a0002c0002t0002g0253 a0002c0002t0002g0261 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0284 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0003c0004t0002g0298 a0004c0005t0001g0034 a0004c0005t0001g0035 a0004c0005t0001g0285 a0004c0005t0002g0283	19	442	0.0430	108	c.120 others(125): Show c.120+2352_120+2353insACATATATATAACATATATATAACATAT ATATAACATATATATAACATATATATAACATCTATATAACATCTATATAA CATCTATATAACATATATATAACATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QPCT_chr2_37339630_37378322	37347196	T T	TATATATA others(101): Show TATATATAACATATATATAACATATATATAACATCTATATAACATCTATA TAACATATATATAACATATATATAACATCTATATAACATCTATATAACAT ATATATAAC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0299 a0002c0002t0002g0299	1	442	0.0023	108	c.120 others(125): Show c.120+2352_120+2353insACATATATATAACATATATATAACATCT ATATAACATCTATATAACATATATATAACATATATATAACATCTATATAA CATCTATATAACATATATATAACATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QRFPR_chr4_121323642_121386018	121365511	T T	TAATATAT others(101): Show TAATATATATAATATATATTATATATATATAATATATATATTATATATTA TATATATTATATATATAATATATAATATATTATATATTATATATTATATA TAATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03195.hp1 HG03471.hp2 HG00735.hp2 HG03195.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0007 a0002c0009t0015 a0001c0001t0007 a0002c0009t0015	a0001c0001t0007g0166 a0002c0009t0015g0013 a0001c0001t0007g0166 a0002c0009t0015g0013	3	384	0.0078	108	c.340 others(127): Show c.340+14796_340+14797insTATATATTATATATAATATATAATAT ATAATATATTATATATTATATATATAATATATATAATATATAATATATAT ATTATATATATATAATATATATTATATATATT	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5			chr4	TogoVar
RAB11FIP3_chr16_420649_528011	467398	G G	GGGAGGAG others(101): Show GGGAGGAGGTGCAGTAGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGG AGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGC AGGGGCGTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0285 a0001c0002t0019g0285	1	295	0.0034	108	c.809 others(125): Show c.809-3816_809-3815insGCCTCAGGGAGGAGGTGCAGGGGCGTTG GAGGAGGTGCAGTAGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB40C_chr16_585066_634268	587367	A A	ATCCCTCC others(101): Show ATCCCTCCCTTCACTGGGCCTGCTGCCCCAGAGTCCGTCCCTCCCTTCAC TGGGCCTGCTGCCCCAGAGTCCGTCCCTCCCTTCACTGGGCCTGCTGCCC CAGAGTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG02148.hp2 NA18973.hp2 HG01993.hp2 HG02148.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0032 a0001c0001t0002 a0001c0001t0032	a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0032g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0032g0020	3	350	0.0086	108	c.-29 others(119): Show c.-2925_-2924insTCCCTCCCTTCACTGGGCCTGCTGCCCCAGAGTC CGTCCCTCCCTTCACTGGGCCTGCTGCCCCAGAGTCCGTCCCTCCCTTCA CTGGGCCTGCTGCCCCAGAGTCCG	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding		2698		chr16	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(101): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCAGGCCCACCATCCCCA CCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCATCAGG CCCACCAGG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	330	0.0030	108	c.397 others(121): Show c.397-73_397-72insCCTGGTGGGCCTGATGGGGATGGTGGGCCTGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGC CTGGTGGGCCTGGTGGGGATGGTGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(101): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATC CCCACCAGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01884.hp1 HG03516.hp1 others(2): Show HG00639.hp1 HG01884.hp1 HG03516.hp1 NA18522.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0250 others(2): Show a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0250 a0001c0001t0002g0175 a0001c0001t0002g0235	5	330	0.0152	108	c.397 others(121): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGGATGGTGGGCCTGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGC CTGGTGGGCCTGGTGGGGATGGTGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(101): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCAGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02145.hp1 HG03195.hp2 others(3): Show HG00408.hp2 HG02145.hp1 HG03195.hp2 HG03490.hp2 HG03492.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0007 a0001c0006t0007 a0001c0001t0001 a0001c0001t0007 a0001c0006t0007	a0001c0001t0001g0006 a0001c0001t0001g0140 a0001c0001t0001g0285 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0140 a0001c0001t0001g0285 a0001c0001t0007g0053 a0001c0006t0007g0066	6	330	0.0182	108	c.397 others(121): Show c.397-73_397-72insCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGG TGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGC CTGGTGGGCCTGGTGGGGATGGTGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(101): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCATC CCCACCAGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01169.hp1 HG00735.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	2	330	0.0061	108	c.397 others(121): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGGATGGTGGGCCTGG TGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGC CTGGTGGGCCTGGTGGGGATGGTGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAD17_chr5_69364818_69419801	69377562	T T	TATATGTG others(101): Show TATATGTGTATATATATACGTATATATGTATATATGTGTATATATATACG TATATATATGCATATATATGTATACATATATATGCATATATATGTATACA TATATATGC	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18980.hp2 NA20129.hp1 HG00609.hp2 NA18980.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0192 a0002c0002t0001g0189 a0002c0002t0001g0190 a0001c0001t0001g0192 a0002c0002t0001g0189 a0002c0002t0001g0190	3	359	0.0084	108	c.351 others(125): Show c.351+2855_351+2856insGTGTATATATATACGTATATATGTATAT ATGTGTATATATATACGTATATATATGCATATATATGTATACATATATAT GCATATATATGTATACATATATATGCATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD17_chr5_69364818_69419801	69377646	T T	TGCATATA others(101): Show TGCATATATATATGCATACATATATATGCATACATATATGCATGCATATA TGCATGCATATATATATGCATACATATATGCATGCATATATATATGCATA CATATATGC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0205 a0002c0002t0001g0205	1	359	0.0028	108	c.351 others(125): Show c.351+2935_351+2936insGCATATATATATGCATACATATATATGC ATACATATATGCATGCATATATGCATGCATATATATATGCATACATATAT GCATGCATATATATATGCATACATATATGC	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18			chr5	TogoVar
RAD17_chr5_69364818_69419801	69377671	A A	ATATGTAT others(101): Show ATATGTATACATATATATGCATACATATAGGTATACATATATATATGCAT ACATATATGTATGCATATATATATGCATACATATATGTATGCATATATAT ATGCATACC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03225.hp2 HG02258.hp2 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	2	359	0.0056	108	c.351 others(125): Show c.351+2963_351+2964insGTATACATATATATGCATACATATAGGT ATACATATATATATGCATACATATATGTATGCATATATATATGCATACAT ATATGTATGCATATATATATGCATACCTAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD51C_chr17_58687602_58740611	58726417	T T	TATATGTA others(101): Show TATATGTATATATGTGTATACGTATAGATGTATATACATATGTATATATG TGTATACGTATAGATGTATATACATATGTATATATGTGTATACGTATAGA TGTATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp2 HG02630.hp2 others(9): Show HG02055.hp2 HG02486.hp2 HG02630.hp2 HG02922.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03471.hp1 HG03490.hp2 HG03579.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0003g0172 others(8): Show a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0177 a0001c0001t0005g0174 a0001c0001t0010g0012 a0001c0002t0001g0305 a0001c0002t0004g0306 a0001c0002t0004g0307 a0001c0002t0004g0308	12	330	0.0364	108	c.965 others(125): Show c.965+2337_965+2444dupCGTATAGATGTATATACATATGTATATA TGTGTATACGTATAGATGTATATACATATGTATATATGTGTATACGTATA GATGTATATACATATGTATATATGTGTATA	RAD51C	ENSG00000108384.16	transcript	ENST00000337432.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAD51C_chr17_58687602_58740611	58726509	C C	CGTATAGA others(101): Show CGTATAGATGTATATACATATGTATATATGTGTATACGTATAGATGTATA TACATATGTATATATGTGTATACGTATAGATGTATATACATATGTATATA TGTGTATAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG01175.hp1 HG00140.hp1 HG00544.hp2 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0002g0189 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0002g0189	3	330	0.0091	108	c.965 others(125): Show c.965+2444_965+2445insCGTATAGATGTATATACATATGTATATA TGTGTATACGTATAGATGTATATACATATGTATATATGTGTATAAGTATA GATGTATATACATATGTATATATGTGTATA	RAD51C	ENSG00000108384.16	transcript	ENST00000337432.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAD52_chr12_906736_954694	952993	A A	AGAGGGGG others(101): Show AGAGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGG GAGGGGGGAGGGGGTGGGGGAGGGGGGAGGGGGGTGGGGGGAGGGGGGAG GGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0151 a0001c0001t0005g0151	1	400	0.0025	108	c.-34 others(119): Show c.-3411_-3410insCCCCACCCCCTCCCCCCTCCCCCCACCCCCCTCC CCCCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCTCCCTTCCCCCCTC CCCCCACCCCCTCCCTTCCCCCTC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3300		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGAAG others(101): Show AGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGAG GGGGAGGGGGTGGGGGGAGGGGGGAGGGGGGTGGGGGGAGGGGGGAGGGG GTGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	400	0.0025	108	c.-34 others(119): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCC TCCCCCCTCCCCCCACCCCCTCCCCCTCCCCCCACCCCCTCCCTTCCCCC CTCCCCCCACCCCCTCCCTTCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(101): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGAGGGGGTGGGGGGAGGGGGGAGGGGGGTGGGGGGAGGGGGGAGGGG GTGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 NA18948.hp2 NA18961.hp2 others(9): Show HG02040.hp1 NA18948.hp2 NA18961.hp2 NA18962.hp2 NA18968.hp2 NA18969.hp1 NA18981.hp1 NA18983.hp1 NA18998.hp1 NA19003.hp2 NA19057.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0021 a0001c0001t0038	a0001c0001t0001g0006 a0001c0001t0001g0066 a0001c0001t0001g0069 others(8): Show a0001c0001t0001g0006 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0162 a0001c0001t0001g0176 a0001c0001t0009g0119 a0001c0001t0021g0113 a0001c0001t0021g0154 a0001c0001t0038g0118	12	400	0.0300	108	c.-34 others(119): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCC TCCCCCCTCCCCCCACCCCCTCCCCTCCCCCCACCCCCTCCCTTCCCCCC TCCCCCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(101): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGAGGGGGTGGGGGAGGGGGGAGGGGGGTGGGGGGAGGGGGGAGGGG GTGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00323.hp2 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	2	400	0.0050	108	c.-34 others(119): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCC TCCCCCCTCCCCCACCCCCTCCCCCTCCCCCCACCCCCTCCCTTCCCCCC TCCCCCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(101): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGAGGGGGTGGGGGGAGGGGGAGGGGGGTGGGGGGAGGGGGGAGGGG GTGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG03942.hp1 HG01993.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	400	0.0050	108	c.-34 others(119): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCC TCCCCCTCCCCCCACCCCCTCCCCCTCCCCCCACCCCCTCCCTTCCCCCC TCCCCCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(101): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGAGGGGGTGGGGGGAGGGGGGAGGGGGGTGGGGGAGGGGGGAGGGG GTGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	400	0.0025	108	c.-34 others(119): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCACCCCCCT CCCCCCTCCCCCCACCCCCTCCCCCTCCCCCCACCCCCTCCCTTCCCCCC TCCCCCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(101): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGAGGGGGTGGGGGGAGGGGGGAGGGGGTGGGGGGAGGGGGGAGGGG GTGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	400	0.0025	108	c.-34 others(119): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCT CCCCCCTCCCCCCACCCCCTCCCCCTCCCCCCACCCCCTCCCTTCCCCCC TCCCCCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(101): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGGAGGGGGTGGGGGAGGGGGAGGGGGGTGGGGGGAGGGGGGAGGGG GTGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA19070.hp2 NA18999.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0022 a0001c0001t0015 a0001c0001t0022	a0001c0001t0015g0071 a0001c0001t0022g0082 a0001c0001t0015g0071 a0001c0001t0022g0082	2	400	0.0050	108	c.-34 others(119): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCC TCCCCCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCTCCCTTCCCCCC TCCCCCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	953007	G G	GGGGGTGG others(101): Show GGGGGTGGGGGGAGGGGGAAGGGAGGGGGTGGGGGGAGGGGGAGGGGGTG GGGGGAGGGGGGAGGGGGGTGGGGGGAGGGGGGAGGGGGTGGGGGAGGGG GGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	400	0.0025	108	c.-34 others(119): Show c.-3425_-3424insTCCCCTCCCCCCCTCCCCCACCCCCTCCCCCCTC CCCCCACCCCCCTCCCCCCTCCCCCCACCCCCTCCCCCTCCCCCCACCCC CTCCCTTCCCCCTCCCCCCACCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3314		chr12	TogoVar
RAE1_chr20_57346255_57384202	57350855	G G	GACGGGGG others(101): Show GACGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGACGGGGGA CGGGGGGCGGGGGGGGCGGGGGGGGGCGGGGGGGACGGGGGGCGGGGGGG ACGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	342	0.0029	108	c.-57 others(117): Show c.-575_-574insACGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGG GGGGGACGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGGCGGGGGGGACG GGGGGCGGGGGGGACGGGGGGC	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		399		chr20	TogoVar
RAE1_chr20_57346255_57384202	57350920	G G	GCGGGGGG others(101): Show GCGGGGGGACGGGGGCGGGGGGGGCGGGGGGGCGGGGGCGGGGGGGGCGG GGGGGCGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGGCGGCGCGGGGGGG CGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	342	0.0029	108	c.-51 others(117): Show c.-510_-509insCGGGGGGACGGGGGCGGGGGGGGCGGGGGGGCGGGG GCGGGGGGGGCGGGGGGGCGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGG CGGCGCGGGGGGGCGGGGGGGC	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		334		chr20	TogoVar
RAI14_chr5_34651328_34837612	34665067	G G	GTGTATAT others(101): Show GTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTATAT ATATATGTGTATATATATATGTGTATATATATGTGTATATATATATATGT GTATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01934.hp2 HG00642.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0202 a0002c0002t0002g0203	2	254	0.0079	108	c.-49 others(125): Show c.-49+8603_-49+8604insATGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATGTGTATAT ATATATATGTGTATATATATGTATATATAT	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RANBP10_chr16_67718070_67811560	67782758	T T	TCACTTTT others(101): Show TCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTA AAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCT CTTAAAAGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02622.hp1 HG02723.hp2 others(4): Show HG02055.hp2 HG02622.hp1 HG02723.hp2 HG02809.hp1 HG03209.hp2 HG03453.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0016 others(4): Show a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0011g0015	7	152	0.0461	108	c.348 others(127): Show c.348-10780_348-10673dupGCTTTTAAGAGATGGCTCTTAAAAGT GGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAA AAGTGGCTTTTAAGAGATGGCTCTTAAAAGTG	RANBP10	ENSG00000141084.12	transcript	ENST00000317506.8	protein_coding	2/13			chr16	TogoVar
RANBP17_chr5_170857018_171305015	170916060	T T	TTATATTG others(101): Show TTATATTGCATTATAATGCATTATATTCTATATTGCATTATAATGCATTA TATTCTATATTGCATTATAATGCATTATATTCTATATTGCATTATAATGC ATTATATTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03195.hp1 NA19043.hp2 HG02559.hp2 HG03195.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0007 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0001t0002g0007 a0001c0002t0002g0002 a0001c0002t0002g0003	3	192	0.0156	108	c.835 others(123): Show c.835-365_835-364insAATGCATTATATTCTATATTGCATTATAAT GCATTATATTCTATATTGCATTATAATGCATTATATTCTATATTGCATTA TAATGCATTATATTCTATATTGCATTAT	RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA3_chr13_113972783_114137623	114044426	C C	CCCGCCCC others(101): Show CCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAG CCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCCCCCGCCCCGCCTC ACTCGCTGA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0006 a0003c0008t0002g0006	1	67	0.0149	108	c.278 others(125): Show c.278-3333_278-3332insTCAGCGAGTGAGGCGGGGCGGGGGGGGG GGAGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGG CGGGGGGGCTCAGCGAGTGAGGCGGGGCGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114075473	G G	GGGTGTGG others(101): Show GGGTGTGGAGGCGCCGGCAGGACGAAGCCTCCCGTGTCCGCACCGCGTAT CTCTGCGTGTGGAGGCGCCGGCAGGACGAAGCCGCCCGTGTCGGCGCCGC GTATCTCTA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	67	0.0149	108	c.56- others(123): Show c.56-1637_56-1636insTAGAGATACGCGGCGCCGACACGGGCGGCT TCGTCCTGCCGGCGCCTCCACACGCAGAGATACGCGGTGCGGACACGGGA GGCTTCGTCCTGCCGGCGCCTCCACACC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114085859	G G	GTCCTCGC others(101): Show GTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0026 a0001c0002t0002g0026	1	67	0.0149	108	c.56- others(125): Show c.56-12023_56-12022insGGAAGGGAGTCGATACTCCAGACTCAGC ACTTCCCCGGGATTTCCCCGCGAGGAGGAAGGGAGTCGATACTCCAGACT CAGCACTTCCCCGGGATTTCCCCGCGAGGA	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114086291	G G	GTCCTCGC others(101): Show GTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0026 a0001c0002t0002g0026	1	67	0.0149	108	c.56- others(125): Show c.56-12455_56-12454insGGAAGGGAGTCGATACTCCAGACTCAGC ACTTCCCCGGGATTTCCCCGCGAGGAGGAAGGGAGTCGATACTCCAGACT CAGCACTTCCCCGGGATTTCCCCGCGAGGA	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar

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