Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
RUNX1_chr21_34782801_35054302	34865279	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01258.hp1 HG01975.hp2 others(7): Show HG01109.hp2 HG01258.hp1 HG01975.hp2 HG02080.hp1 HG02148.hp2 HG02486.hp1 HG03579.hp2 HG04115.hp1 NA18957.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0023 a0001c0001t0028 a0001c0002t0007	a0001c0001t0001g0043 a0001c0001t0001g0064 a0001c0001t0001g0170 others(7): Show a0001c0001t0001g0043 a0001c0001t0001g0064 a0001c0001t0001g0170 a0001c0001t0002g0019 a0001c0001t0002g0063 a0001c0001t0002g0071 a0001c0001t0009g0046 a0001c0001t0023g0115 a0001c0001t0028g0122 a0001c0002t0007g0057	10	170	0.0588	-10	c.509 others(27): Show c.509-5711_509-5702delACACACACAC	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	5/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34894880	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03239.hp1 HG03491.hp1 others(1): Show HG01496.hp2 HG03239.hp1 HG03491.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009	a0001c0001t0002g0031 a0001c0001t0002g0082 a0001c0001t0005g0166 others(1): Show a0001c0001t0002g0031 a0001c0001t0002g0082 a0001c0001t0005g0166 a0001c0001t0009g0157	4	170	0.0235	-10	c.59- others(25): Show c.59-1927_59-1918delGTGTGTGTGT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34894920	CACACACA others(3): Show CACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02723.hp2 HG02809.hp2 others(1): Show HG01175.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0006 a0001c0002t0007	a0001c0001t0001g0103 a0001c0001t0004g0124 a0001c0002t0006g0101 others(1): Show a0001c0001t0001g0103 a0001c0001t0004g0124 a0001c0002t0006g0101 a0001c0002t0007g0121	4	170	0.0235	-10	c.59- others(25): Show c.59-1967_59-1958delATGTGTGTGT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34943309	ACTTCTTT others(3): Show ACTTCTTTGCT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01109.hp2 others(20): Show HG00639.hp2 HG00735.hp1 HG01109.hp2 HG01192.hp2 HG01257.hp1 HG01952.hp1 HG02080.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02809.hp1 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03579.hp1 NA18522.hp1 NA18957.hp2 NA18983.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0002t0001 a0001c0002t0003 a0001c0002t0018 a0001c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0059 others(20): Show a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0079 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0002g0019 a0001c0001t0002g0159 a0001c0001t0005g0072 a0001c0001t0005g0073 a0001c0001t0005g0114 a0001c0001t0005g0126 a0001c0001t0009g0046 a0001c0001t0026g0119 a0001c0001t0027g0109 a0001c0001t0029g0155 a0001c0002t0001g0067 a0001c0002t0003g0110 a0001c0002t0018g0091 a0001c0003t0001g0011	23	170	0.1353	-10	c.59- others(27): Show c.59-50356_59-50347delAGCAAAGAAG	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34967319	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	170	0.0059	-10	c.59- others(27): Show c.59-74366_59-74357delTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34993498	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01952.hp1 others(4): Show HG01257.hp2 HG01258.hp2 HG01952.hp1 HG02572.hp2 HG02809.hp1 HG03130.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0006t0006	a0001c0001t0001g0079 a0001c0001t0001g0108 a0001c0001t0001g0117 others(4): Show a0001c0001t0001g0079 a0001c0001t0001g0108 a0001c0001t0001g0117 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0005g0126 a0001c0006t0006g0134	7	170	0.0412	-10	c.58+ others(27): Show c.58+55334_58+55343delGTGTGTGTGT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34993591	ACACACAC others(3): Show ACACACACAGG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp1 HG02738.hp1 others(1): Show HG01099.hp2 HG01106.hp1 HG02738.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0035 a0001c0001t0001g0097 a0001c0001t0002g0169 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0097 a0001c0001t0002g0169 a0001c0001t0009g0033	4	170	0.0235	-10	c.58+ others(27): Show c.58+55241_58+55250delCCTGTGTGTG	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34993656	CAGACACA others(3): Show CAGACACACAG	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	170	0.0059	-10	c.58+ others(27): Show c.58+55176_58+55185delCTGTGTGTCT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	35001308	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG01167.hp2 others(19): Show HG00639.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01257.hp1 HG01496.hp2 HG02055.hp1 HG02109.hp2 HG02486.hp2 HG02615.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03471.hp2 HG03516.hp1 HG06807.hp1 NA18906.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0026 a0001c0002t0003 a0001c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(19): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0133 a0001c0001t0001g0149 a0001c0001t0002g0140 a0001c0001t0004g0058 a0001c0001t0004g0118 a0001c0001t0004g0120 a0001c0001t0005g0125 a0001c0001t0007g0038 a0001c0001t0009g0157 a0001c0001t0026g0119 a0001c0002t0003g0077 a0001c0002t0003g0142 a0001c0003t0001g0162	22	170	0.1294	-10	c.58+ others(27): Show c.58+47524_58+47533delTATATATATA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	35038572	CCTCTCTC others(3): Show CCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp1 HG02723.hp1 others(7): Show HG00639.hp1 HG01175.hp1 HG02723.hp1 HG02970.hp1 HG03098.hp1 HG03471.hp1 HG03540.hp1 HG06807.hp1 NA18978.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0003 a0001c0002t0007 a0001c0006t0006	a0001c0001t0001g0024 a0001c0001t0001g0074 a0001c0001t0001g0083 others(7): Show a0001c0001t0001g0024 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0139 a0001c0001t0002g0048 a0001c0001t0004g0058 a0001c0002t0003g0093 a0001c0002t0007g0121 a0001c0006t0006g0134	10	170	0.0588	-10	c.58+ others(27): Show c.58+10260_58+10269delAGAGAGAGAG	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	35038607	CTCTCTCT others(3): Show CTCTCTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02615.hp2 HG02055.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0133 a0001c0001t0001g0137	2	170	0.0118	-10	c.58+ others(27): Show c.58+10225_58+10234delCACAGAGAGA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	35047514	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02976.hp2 HG03130.hp1 HG02080.hp2 HG02976.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0029 a0001c0001t0005 a0001c0001t0029	a0001c0001t0005g0125 a0001c0001t0005g0126 a0001c0001t0029g0155 a0001c0001t0005g0125 a0001c0001t0005g0126 a0001c0001t0029g0155	3	170	0.0177	-10	c.58+ others(25): Show c.58+1318_58+1327delGTGTGTGTGT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	35047553	ACACACAC others(3): Show ACACACACACT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02055.hp2 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0137 a0001c0001t0002g0136 a0001c0001t0001g0137 a0001c0001t0002g0136	2	170	0.0118	-10	c.58+ others(25): Show c.58+1279_58+1288delAGTGTGTGTG	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	35047557	ACACACTC others(3): Show ACACACTCTCT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	170	0.0059	-10	c.58+ others(25): Show c.58+1275_58+1284delAGAGAGTGTG	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX2_chr6_45323330_45556082	45399349	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	178	0.0056	-10	c.59- others(27): Show c.59-23225_59-23216delTTTTTTTTTT	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RUNX2_chr6_45323330_45556082	45414754	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03540.hp2 HG01884.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0119 a0001c0001t0010g0002 a0001c0001t0001g0119 a0001c0001t0010g0002	2	178	0.0112	-10	c.59- others(25): Show c.59-7818_59-7809delTTTTTTTTTT	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RUNX2_chr6_45323330_45556082	45474373	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG06807.hp2 HG02145.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0014 a0001c0001t0007 a0001c0001t0014	a0001c0001t0007g0036 a0001c0001t0014g0035 a0001c0001t0007g0036 a0001c0001t0014g0035	2	178	0.0112	-10	c.686 others(29): Show c.686-17544_686-17535delGTGTGTGTGT	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RUSC1_chr1_155315894_155336114	155332449	AAAGTGTA others(3): Show AAAGTGTATGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	318	0.0031	-10	c.18 others(21): Show c.1879_*1888delAAGTGTATGT	RUSC1	ENSG00000160753.17	transcript	ENST00000368352.10	protein_coding		1336		chr1	TogoVar
RUSC1_chr1_155315894_155336114	155332454	GTATGTGT others(3): Show GTATGTGTATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	318	0.0031	-10	c.18 others(21): Show c.1884_*1893delTATGTGTATA	RUSC1	ENSG00000160753.17	transcript	ENST00000368352.10	protein_coding		1341		chr1	TogoVar
RUSC1_chr1_155315894_155336114	155332458	GTGTATAT others(3): Show GTGTATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	318	0.0031	-10	c.18 others(21): Show c.1888_*1897delTGTATATATA	RUSC1	ENSG00000160753.17	transcript	ENST00000368352.10	protein_coding		1345		chr1	TogoVar
RUSC1_chr1_155315894_155336114	155332460	GTATATAT others(3): Show GTATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02818.hp2 HG02965.hp2 others(2): Show HG02809.hp2 HG02818.hp2 HG02965.hp2 HG03209.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0002 a0001c0001t0001g0005	5	318	0.0157	-10	c.18 others(21): Show c.1890_*1899delTATATATATA	RUSC1	ENSG00000160753.17	transcript	ENST00000368352.10	protein_coding		1347		chr1	TogoVar
RUSC2_chr9_35485111_35566895	35513932	ATATATAT others(3): Show ATATATATTAC	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	322	0.0031	-10	c.-93 others(29): Show c.-93+23762_-93+23771delATATATTACT	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
RUVBL1_chr3_128075810_128128812	128089909	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02602.hp1 HG02258.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0059 a0001c0001t0002g0062	2	360	0.0056	-10	c.101 others(29): Show c.1017-2111_1017-2102delTTTTTTTTTT	RUVBL1	ENSG00000175792.12	transcript	ENST00000322623.10	protein_coding	8/10			chr3	TogoVar
RUVBL1_chr3_128075810_128128812	128105865	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 homoSapiens_chm13v2.hp1 HG01099.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	2	360	0.0056	-10	c.362 others(25): Show c.362-951_362-942delAAAAAAAAAA	RUVBL1	ENSG00000175792.12	transcript	ENST00000322623.10	protein_coding	3/10			chr3	TogoVar
RUVBL1_chr3_128075810_128128812	128126201	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 NA20752.hp1 HG03098.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0163 a0001c0001t0002g0075 a0001c0001t0001g0163 a0001c0001t0002g0075	2	360	0.0056	-10	c.-24 others(21): Show c.-2487_-2478delCACACACACA	RUVBL1	ENSG00000175792.12	transcript	ENST00000322623.10	protein_coding		2390		chr3	TogoVar
RUVBL2_chr19_48988887_49020970	49009160	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01891.hp1 HG02258.hp1 others(2): Show HG01192.hp2 HG01891.hp1 HG02258.hp1 NA18970.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 others(1): Show a0001c0001 a0001c0003 a0001c0010 a0001c0017	a0001c0001t0001 a0001c0003t0002 a0001c0010t0001 others(1): Show a0001c0001t0001 a0001c0003t0002 a0001c0010t0001 a0001c0017t0002	a0001c0001t0001g0324 a0001c0003t0002g0027 a0001c0003t0002g0035 others(2): Show a0001c0001t0001g0324 a0001c0003t0002g0027 a0001c0003t0002g0035 a0001c0010t0001g0325 a0001c0017t0002g0050	5	412	0.0121	-10	c.463 others(25): Show c.463-589_463-580delAAAAAAAAAA	RUVBL2	ENSG00000183207.15	transcript	ENST00000595090.6	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
RUVBL2_chr19_48988887_49020970	49012843	CCACACAC others(3): Show CCACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	412	0.0024	-10	c.100 others(29): Show c.1001+1565_1001+1574delACACACACAC	RUVBL2	ENSG00000183207.15	transcript	ENST00000595090.6	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
RWDD2B_chr21_28999384_29024349	29003605	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01516.hp1 others(13): Show HG00738.hp1 HG00741.hp1 HG01516.hp1 HG01517.hp1 HG01952.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02683.hp2 HG03704.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18978.hp2 NA18994.hp2 NA19065.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0005 a0001c0001 a0001c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0001 a0004c0005t0002	a0001c0001t0001g0092 a0001c0001t0001g0157 a0001c0001t0002g0003 others(11): Show a0001c0001t0001g0092 a0001c0001t0001g0157 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0123 a0001c0001t0002g0132 a0001c0001t0006g0080 a0001c0003t0001g0163 a0004c0005t0002g0099	16	438	0.0365	-10	c.28 others(21): Show c.2802_*2811delTTTTTTTTTT	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding		778		chr21	TogoVar
RWDD4_chr4_183634635_183664185	183643415	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02155.hp2 NA18946.hp2 others(6): Show HG00408.hp1 HG02155.hp2 NA18946.hp2 NA18961.hp1 NA19004.hp2 NA19066.hp1 NA19070.hp1 NA19085.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0022 a0001c0001t0001 a0001c0001t0004 a0001c0001t0022	a0001c0001t0001g0019 a0001c0001t0001g0236 a0001c0001t0001g0266 others(5): Show a0001c0001t0001g0019 a0001c0001t0001g0236 a0001c0001t0001g0266 a0001c0001t0001g0388 a0001c0001t0001g0405 a0001c0001t0001g0406 a0001c0001t0004g0105 a0001c0001t0022g0431	9	480	0.0188	-10	c.535 others(27): Show c.535-1957_535-1948delTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542079	CTATATAT others(3): Show CTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0160	1	210	0.0048	-10	c.49+ others(27): Show c.49+20076_49+20085delATATATATAT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158563496	GCACACAC others(3): Show GCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02129.hp2 HG01074.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0043 a0001c0001t0001g0051	2	210	0.0095	-10	c.50- others(25): Show c.50-9170_50-9161delACACACACAC	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158576727	TGCTAGTA others(3): Show TGCTAGTAGTG	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA20129.hp2 HG03139.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0206 a0001c0001t0004g0207	2	210	0.0095	-10	c.187 others(27): Show c.187+3895_187+3904delTAGTAGTGGC	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158627504	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02109.hp1 others(11): Show HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp2 HG02486.hp2 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02970.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(11): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0181	14	210	0.0667	-10	c.827 others(25): Show c.827+650_827+659delGTGTGTGTGT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP2_chr13_31734526_31808389	31764243	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG00741.hp1 others(29): Show HG00280.hp2 HG00621.hp1 HG00741.hp1 HG01099.hp1 HG01169.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01891.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp2 HG02559.hp1 HG03490.hp2 HG03491.hp2 HG04184.hp1 NA18950.hp2 NA18959.hp2 NA18974.hp1 NA18979.hp2 NA18981.hp1 NA18990.hp1 NA18999.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA19084.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0007c0008	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0007c0008t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 others(29): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0125 a0001c0001t0001g0271 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0358 a0001c0002t0002g0340 a0001c0004t0001g0020 a0001c0004t0001g0076 a0001c0004t0001g0077 a0001c0004t0001g0078 a0001c0004t0001g0079 a0001c0004t0001g0080 a0001c0004t0001g0082 a0001c0004t0001g0084 a0001c0004t0001g0126 a0001c0004t0001g0129 a0001c0004t0001g0130 a0001c0004t0001g0131 a0001c0004t0001g0132 a0001c0004t0001g0135 a0001c0004t0001g0280 a0001c0004t0001g0281 a0001c0004t0001g0282 a0001c0004t0001g0283 a0001c0004t0001g0293 a0007c0008t0001g0081	32	386	0.0829	-10	c.320 others(25): Show c.320-757_320-748delCACACACACA	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
RXFP2_chr13_31734526_31808389	31794368	CCACACAC others(3): Show CCACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03209.hp1 HG03453.hp2 others(3): Show HG02886.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 NA18973.hp1 NA19060.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0002t0002 a0003c0005t0002 a0001c0001t0001 a0001c0002t0002 a0003c0005t0002	a0001c0001t0001g0115 a0001c0001t0001g0197 a0001c0002t0002g0119 others(3): Show a0001c0001t0001g0115 a0001c0001t0001g0197 a0001c0002t0002g0119 a0003c0005t0002g0105 a0003c0005t0002g0241 a0003c0005t0002g0242	6	386	0.0155	-10	c.178 others(29): Show c.1786+1312_1786+1321delACACACACAC	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
RXFP2_chr13_31734526_31808389	31796038	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp2 HG03486.hp2 HG02572.hp1 HG02622.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0245	3	386	0.0078	-10	c.178 others(29): Show c.1787-1143_1787-1134delTTTTTTTTTT	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
RXFP4_chr1_155936638_155948087	155945280	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	312	0.0032	-10	c.24 others(21): Show c.2447_*2456delGTGTGTGTGT	RXFP4	ENSG00000173080.6	transcript	ENST00000368318.5	protein_coding		2194		chr1	TogoVar
RXRG_chr1_165395922_165450126	165427402	ATGTTTTG others(3): Show ATGTTTTGTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG01175.hp1 others(13): Show HG00140.hp2 HG00423.hp2 HG01175.hp1 HG01981.hp2 HG02698.hp1 HG02717.hp2 HG02896.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03490.hp2 HG03834.hp1 HG03927.hp2 NA18966.hp2 NA18975.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0002 a0001c0003t0001 a0001c0005t0002 a0001c0006t0001 a0002c0009t0001	a0001c0001t0001g0053 a0001c0001t0001g0305 a0001c0001t0001g0308 others(11): Show a0001c0001t0001g0053 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0002g0274 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0303 a0001c0001t0002g0306 a0001c0001t0009g0054 a0001c0002t0002g0156 a0001c0003t0001g0211 a0001c0005t0002g0280 a0001c0006t0001g0140 a0002c0009t0001g0307	16	412	0.0388	-10	c.297 others(27): Show c.297+1307_297+1316delAAACAAAACA	RXRG	ENSG00000143171.13	transcript	ENST00000359842.10	protein_coding	2/9			chr1	TogoVar
RXRG_chr1_165395922_165450126	165434271	CATGTGTG others(3): Show CATGTGTGTAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01256.hp2 HG01257.hp2 others(1): Show HG01243.hp1 HG01256.hp2 HG01257.hp2 HG02300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0049 a0001c0004t0001g0050 a0001c0004t0001g0049 a0001c0004t0001g0050	4	412	0.0097	-10	c.50- others(25): Show c.50-5315_50-5306delATACACACAT	RXRG	ENSG00000143171.13	transcript	ENST00000359842.10	protein_coding	1/9			chr1	TogoVar
RYK_chr3_134152133_134255859	134162430	GAGCAAAG others(3): Show GAGCAAAGTCC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp2 HG02895.hp1 others(4): Show HG01109.hp1 HG02622.hp2 HG02895.hp1 HG02897.hp1 HG03225.hp2 HG03453.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0122 a0001c0001t0001g0123	7	376	0.0186	-10	c.157 others(29): Show c.1576-3067_1576-3058delGGACTTTGCT	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	13/14			chr3	TogoVar
RYK_chr3_134152133_134255859	134196582	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0299 a0002c0002t0001g0299	1	376	0.0027	-10	c.789 others(27): Show c.789-1410_789-1401delGTGTGTGTGT	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	6/14			chr3	TogoVar
RYK_chr3_134152133_134255859	134204591	CCACACAC others(3): Show CCACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp2 HG00741.hp1 others(14): Show HG00609.hp1 HG00642.hp2 HG00741.hp1 HG01167.hp2 HG01256.hp1 HG01257.hp1 HG01358.hp1 HG01515.hp1 HG02738.hp1 HG02818.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03492.hp2 HG03688.hp1 HG04115.hp2 HG06807.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0029 others(14): Show a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0005c0006t0001g0060 a0005c0006t0001g0061	17	376	0.0452	-10	c.644 others(27): Show c.644-1727_644-1718delTGTGTGTGTG	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	5/14			chr3	TogoVar
RYK_chr3_134152133_134255859	134216792	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0343 a0001c0001t0003g0343	1	376	0.0027	-10	c.355 others(27): Show c.355-5195_355-5186delTTTTTTTTTT	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	2/14			chr3	TogoVar
RYR1_chr19_38428691_38592564	38435814	ATAGACAT others(3): Show ATAGACATGAC	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0030 a0001c0027t0001g0030	1	218	0.0046	-10	c.45+ others(25): Show c.45+1943_45+1952delGACATGACTA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	1/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38472835	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02615.hp2 others(11): Show HG01109.hp1 HG01884.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp1	a0004 a0008 a0014 others(5): Show a0004 a0008 a0014 a0015 a0017 a0018 a0019 a0020	a0004c0015 a0004c0072 a0004c0115 others(7): Show a0004c0015 a0004c0072 a0004c0115 a0008c0010 a0014c0073 a0015c0086 a0017c0041 a0018c0083 a0019c0080 a0020c0081	a0004c0015t0001 a0004c0072t0001 a0004c0115t0004 others(7): Show a0004c0015t0001 a0004c0072t0001 a0004c0115t0004 a0008c0010t0001 a0014c0073t0001 a0015c0086t0001 a0017c0041t0001 a0018c0083t0002 a0019c0080t0001 a0020c0081t0001	a0004c0015t0001g0098 a0004c0015t0001g0187 a0004c0015t0001g0188 others(11): Show a0004c0015t0001g0098 a0004c0015t0001g0187 a0004c0015t0001g0188 a0004c0072t0001g0125 a0004c0115t0004g0216 a0008c0010t0001g0006 a0008c0010t0001g0007 a0008c0010t0001g0008 a0014c0073t0001g0126 a0015c0086t0001g0019 a0017c0041t0001g0117 a0018c0083t0002g0211 a0019c0080t0001g0142 a0020c0081t0001g0143	14	218	0.0642	-10	c.376 others(27): Show c.3766-529_3766-520delAAAAAAAAAA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	27/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38474564	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0101 a0001c0101	a0001c0101t0001 a0001c0101t0001	a0001c0101t0001g0041 a0001c0101t0001g0041	1	218	0.0046	-10	c.416 others(27): Show c.4161-735_4161-726delTTTTTTTTTT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	28/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38495061	AGACTAGT others(3): Show AGACTAGTCTC	A A	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18980.hp2 NA19068.hp2 NA18951.hp2 NA18980.hp2 NA19068.hp2	a0001 a0003 a0001 a0003	a0001c0052 a0001c0066 a0003c0051 a0001c0052 a0001c0066 a0003c0051	a0001c0052t0003 a0001c0066t0001 a0003c0051t0003 a0001c0052t0003 a0001c0066t0001 a0003c0051t0003	a0001c0052t0003g0034 a0001c0066t0001g0092 a0003c0051t0003g0036 a0001c0052t0003g0034 a0001c0066t0001g0092 a0003c0051t0003g0036	3	218	0.0138	-10	c.654 others(27): Show c.6548+439_6548+448delCTAGTCTCGA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	39/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38549875	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18964.hp1 NA18983.hp2 others(1): Show HG02015.hp1 NA18964.hp1 NA18983.hp2 NA19057.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0116 a0003c0050 a0003c0093 others(1): Show a0001c0116 a0003c0050 a0003c0093 a0011c0121	a0001c0116t0001 a0003c0050t0003 a0003c0093t0001 others(1): Show a0001c0116t0001 a0003c0050t0003 a0003c0093t0001 a0011c0121t0001	a0001c0116t0001g0121 a0003c0050t0003g0035 a0003c0093t0001g0078 others(1): Show a0001c0116t0001g0121 a0003c0050t0003g0035 a0003c0093t0001g0078 a0011c0121t0001g0086	4	218	0.0184	-10	c.122 others(31): Show c.12282+1497_12282+1506delGTGTGTGTGT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	89/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38568581	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0066 a0001c0066	a0001c0066t0001 a0001c0066t0001	a0001c0066t0001g0092 a0001c0066t0001g0092	1	218	0.0046	-10	c.136 others(29): Show c.13659+676_13659+685delAAAAAAAAAA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	93/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38590373	GAAAAAAA others(3): Show GAAAAAAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0047 a0004c0047	a0004c0047t0002 a0004c0047t0002	a0004c0047t0002g0205 a0004c0047t0002g0205	1	218	0.0046	-10	c.29 others(21): Show c.2954_*2963delAAAAAAAAAA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2810		chr19	TogoVar

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