Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RSAD1_chr17_50473860_50490974	50476246	G G	GCAGCGCT others(17): Show GCAGCGCTCCTGCCCCCTTACCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0001	1	382	0.0026	24	c.-26 others(35): Show c.-2639_-2638insCAGCGCTCCTGCCCCCTTACCTCC	RSAD1	ENSG00000136444.10	transcript	ENST00000258955.7	protein_coding		2613		chr17	TogoVar
RSAD1_chr17_50473860_50490974	50476318	C C	CCAGCGCG others(17): Show CCAGCGCGCCTGCCCCCTTACCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	382	0.0026	24	c.-25 others(35): Show c.-2567_-2566insCAGCGCGCCTGCCCCCTTACCTCG	RSAD1	ENSG00000136444.10	transcript	ENST00000258955.7	protein_coding		2541		chr17	TogoVar
RSBN1L_chr7_77691459_77788022	77725244	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03139.hp2 HG03516.hp2 HG01433.hp1 HG03139.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0193 a0001c0001t0005g0201 a0001c0001t0005g0203 a0001c0001t0005g0193 a0001c0001t0005g0201 a0001c0001t0005g0203	3	336	0.0089	24	c.587 others(43): Show c.587-11145_587-11144insTTTTTTTTTTTTTTTTTTTTTTTT	RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
RSF1_chr11_77655009_77825722	77658011	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG02145.hp2 HG03486.hp1 HG01123.hp2 HG02145.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0068 a0001c0001t0001 a0001c0001t0068	a0001c0001t0001g0285 a0001c0001t0001g0292 a0001c0001t0068g0352 a0001c0001t0001g0285 a0001c0001t0001g0292 a0001c0001t0068g0352	3	352	0.0085	24	c.89 others(35): Show c.8905_*8906insTTTTTTTTTTTTTTTTTTTTTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding		1997		chr11	TogoVar
RSF1_chr11_77655009_77825722	77686408	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	352	0.0028	24	c.290 others(43): Show c.2901-1250_2901-1249insTTTTTTTTTTTTTTTTTTTTTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	9/15			chr11	TogoVar
RSF1_chr11_77655009_77825722	77729895	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0038	1	352	0.0028	24	c.579 others(41): Show c.579-4220_579-4197dupTTTTTTTTTTTTTTTTTTTTTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	4/15			chr11	TogoVar
RSPH10B_chr7_5921136_5975689	5927066	G G	GTGTATAT others(17): Show GTGTATATATATATATGTGTGTATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0001 a0003c0020t0001	a0003c0020t0001g0014 a0003c0020t0001g0014	1	70	0.0143	24	c.243 others(41): Show c.2433-519_2433-518insTATACACACATATATATATATACA	RSPH10B	ENSG00000155026.17	transcript	ENST00000404406.6	protein_coding	20/20			chr7	TogoVar
RSPH10B_chr7_5921136_5975689	5942896	T T	TTATATAT others(17): Show TTATATATATATTTATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0011 a0004c0003t0002g0011	1	70	0.0143	24	c.175 others(41): Show c.1758+427_1758+428insTATATATATATAAATATATATATA	RSPH10B	ENSG00000155026.17	transcript	ENST00000404406.6	protein_coding	15/20			chr7	TogoVar
RSPH10B_chr7_5921136_5975689	5947860	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02717.hp1 HG01175.hp2 HG02717.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0010 a0002c0002 a0003c0010	a0002c0002t0002 a0003c0010t0002 a0002c0002t0002 a0003c0010t0002	a0002c0002t0002g0040 a0003c0010t0002g0039 a0002c0002t0002g0040 a0003c0010t0002g0039	2	70	0.0286	24	c.141 others(41): Show c.1414+336_1414+359dupCACACACACACACACACACACACA	RSPH10B	ENSG00000155026.17	transcript	ENST00000404406.6	protein_coding	12/20			chr7	TogoVar
RSPH1_chr21_42467486_42501224	42487888	A A	AATGTCCT others(17): Show AATGTCCTGGGCACTTTGTGAGATG	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0001 a0011c0010t0001	a0011c0010t0001g0150 a0011c0010t0001g0150	1	408	0.0025	24	c.275 others(41): Show c.275-1451_275-1428dupCATCTCACAAAGTGCCCAGGACAT	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	3/8			chr21	TogoVar
RSPH3_chr6_158967871_159005202	158984434	T T	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01255.hp1 HG02040.hp2 others(10): Show HG01074.hp1 HG01255.hp1 HG02040.hp2 HG02615.hp1 HG02922.hp1 HG03225.hp2 HG03942.hp1 NA18747.hp2 NA18955.hp1 NA18972.hp2 NA18979.hp1 NA19002.hp1 NA19030.hp2	a0002 a0003 a0015 a0002 a0003 a0015	a0002c0002 a0003c0004 a0015c0015 a0002c0002 a0003c0004 a0015c0015	a0002c0002t0002 a0002c0002t0032 a0002c0002t0033 others(3): Show a0002c0002t0002 a0002c0002t0032 a0002c0002t0033 a0003c0004t0006 a0003c0004t0017 a0015c0015t0046	a0002c0002t0002g0031 a0002c0002t0002g0171 a0002c0002t0002g0177 others(9): Show a0002c0002t0002g0031 a0002c0002t0002g0171 a0002c0002t0002g0177 a0002c0002t0002g0181 a0002c0002t0002g0196 a0002c0002t0002g0209 a0002c0002t0032g0165 a0002c0002t0033g0190 a0003c0004t0006g0147 a0003c0004t0017g0144 a0003c0004t0017g0151 a0015c0015t0046g0150	13	302	0.0431	24	c.347 others(39): Show c.347-628_347-627insTATATATATATATATATATATAAA	RSPH3	ENSG00000130363.13	transcript	ENST00000367069.7	protein_coding	3/7			chr6	TogoVar
RSPO3_chr6_127113671_127204481	127117934	G G	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0187 a0001c0002t0001g0187	1	310	0.0032	24	c.-12 others(35): Show c.-1259_-1258insAGAAAGAAAGAAAGAAAGAAAGAA	RSPO3	ENSG00000146374.14	transcript	ENST00000356698.9	protein_coding		736		chr6	TogoVar
RSPO3_chr6_127113671_127204481	127155888	A A	ATATATGT others(17): Show ATATATGTATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03471.hp2 HG02895.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0253 a0001c0001t0003g0254	2	310	0.0065	24	c.634 others(39): Show c.634+454_634+455insTGTATATATATATATATATGTATA	RSPO3	ENSG00000146374.14	transcript	ENST00000356698.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
RSPRY1_chr16_57181329_57245469	57202878	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02523.hp1 HG02523.hp2 others(3): Show HG02132.hp1 HG02523.hp1 HG02523.hp2 NA18747.hp2 NA18942.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0014	a0001c0001t0002g0154 a0001c0001t0002g0170 a0001c0001t0002g0245 others(3): Show a0001c0001t0002g0154 a0001c0001t0002g0170 a0001c0001t0002g0245 a0001c0001t0003g0337 a0001c0001t0011g0240 a0001c0001t0014g0326	6	358	0.0168	24	c.-15 others(43): Show c.-155-1620_-155-1597dupATATATATATATATATATATATAT	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
RSRC1_chr3_158105089_158550730	158106571	C C	CAGAGAGA others(17): Show CAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 NA18983.hp1 HG02523.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0082 a0001c0001t0011g0222 a0001c0001t0002g0082 a0001c0001t0011g0222	2	276	0.0073	24	c.-36 others(35): Show c.-3655_-3654insAGAGAGAGAGAGAGAGAGAGAGAG	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3517		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158117881	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02886.hp2 HG02922.hp2 others(2): Show HG02559.hp1 HG02886.hp2 HG02922.hp2 HG03130.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0257 a0001c0001t0002g0263 a0001c0001t0002g0265 others(2): Show a0001c0001t0002g0257 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0012g0262 a0001c0001t0012g0264	5	276	0.0181	24	c.-2- others(39): Show c.-2-4214_-2-4191dupCTTTCTTTCTTTCTTTCTTTCTTT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	276	0.0036	24	c.321 others(39): Show c.321-491_321-490insATATATATATATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01884.hp2 others(6): Show HG00735.hp2 HG00738.hp1 HG01884.hp2 HG01993.hp1 HG02055.hp2 HG02738.hp2 HG03139.hp2 HG03516.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0028	a0001c0001t0001g0052 a0001c0001t0001g0189 a0001c0001t0001g0201 others(6): Show a0001c0001t0001g0052 a0001c0001t0001g0189 a0001c0001t0001g0201 a0001c0001t0001g0220 a0001c0001t0009g0011 a0001c0001t0010g0186 a0001c0001t0010g0190 a0001c0001t0010g0195 a0001c0001t0028g0207	9	276	0.0326	24	c.321 others(39): Show c.321-509_321-508insTTATATATATATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158207637	T T	TTAGATAG others(17): Show TTAGATAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp1 HG01516.hp2 others(8): Show HG00735.hp1 HG01243.hp1 HG01516.hp2 HG01517.hp2 HG02559.hp2 HG02572.hp2 HG02683.hp2 HG03688.hp1 NA18950.hp1 NA18970.hp1 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0002 a0001c0001t0006 a0003c0006t0013 a0001c0001t0002 a0001c0001t0006 a0003c0006t0013	a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 others(8): Show a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0255 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0006g0250 a0003c0006t0013g0043	11	276	0.0399	24	c.494 others(41): Show c.494+4397_494+4420dupTAGATAGATAGATAGATAGATAGA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158207662	T T	TAGATAGA others(17): Show TAGATAGATAGATAGATAGACAGAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0025 a0001c0001t0006g0025	1	276	0.0036	24	c.494 others(41): Show c.494+4420_494+4421insTAGATAGATAGATAGACAGACAGA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158207662	T T	TAGATAGA others(17): Show TAGATAGATAGATAGATAGATAGAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00738.hp2 others(24): Show HG00280.hp1 HG00597.hp1 HG00738.hp2 HG01261.hp2 HG01993.hp2 HG02004.hp1 HG02109.hp2 HG02273.hp2 HG03041.hp2 HG03139.hp2 HG03704.hp2 NA18747.hp1 NA18943.hp2 NA18948.hp1 NA18953.hp2 NA18956.hp2 NA18970.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA19004.hp1 NA19004.hp2 NA19054.hp1 NA19057.hp1 NA19062.hp1 NA19062.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0023 a0001c0001t0026	a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0060 others(24): Show a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0167 a0001c0001t0001g0177 a0001c0001t0001g0189 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0231 a0001c0001t0005g0087 a0001c0001t0015g0057 a0001c0001t0015g0062 a0001c0001t0015g0063 a0001c0001t0023g0106 a0001c0001t0026g0107	27	276	0.0978	24	c.494 others(41): Show c.494+4420_494+4421insTAGATAGATAGATAGATAGACAGA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158228848	C C	CACATACG others(17): Show CACATACGTGTATATATGTATATAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02735.hp1 NA18945.hp1 others(5): Show HG00609.hp2 HG02735.hp1 NA18945.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19086.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0014 a0001c0001t0004 a0001c0001t0011 a0001c0001t0014	a0001c0001t0004g0209 a0001c0001t0004g0215 a0001c0001t0004g0216 others(5): Show a0001c0001t0004g0209 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0011g0202 a0001c0001t0014g0015 a0001c0001t0014g0016 a0001c0001t0014g0017 a0001c0001t0014g0018	8	276	0.0290	24	c.494 others(43): Show c.494+25606_494+25607insTACGTGTATATATGTATATAAACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158228848	C C	CACATACG others(17): Show CACATACGTGTATATATGTGTATAA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA19070.hp2 NA18977.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0007 a0001c0001t0011	a0001c0001t0007g0180 a0001c0001t0011g0171 a0001c0001t0007g0180 a0001c0001t0011g0171	2	276	0.0073	24	c.494 others(43): Show c.494+25606_494+25607insTACGTGTATATATGTGTATAAACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158228929	C C	CACATACG others(17): Show CACATACGTGTATATGTGTATATAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG03225.hp2 HG02258.hp2 HG02572.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0006g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0006g0250	3	276	0.0109	24	c.494 others(43): Show c.494+25687_494+25688insTACGTGTATATGTGTATATAAACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158229002	G G	GTGTATAA others(17): Show GTGTATAAACACACATACGTGTATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0013 a0003c0006t0013	a0003c0006t0013g0043 a0003c0006t0013g0043	1	276	0.0036	24	c.494 others(43): Show c.494+25760_494+25761insATAAACACACATACGTGTATATGT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158229041	C C	CACACACG others(17): Show CACACACGTGTATATGTGTGTATAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19077.hp2 NA19080.hp1 others(1): Show HG00609.hp2 NA19077.hp2 NA19080.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0209 a0001c0001t0004g0215 a0001c0001t0004g0216 others(1): Show a0001c0001t0004g0209 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0011g0202	4	276	0.0145	24	c.494 others(43): Show c.494+25801_494+25802insCGTGTATATGTGTGTATAAACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158477795	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03195.hp1 HG03130.hp1 HG03195.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0007 a0004c0004t0002 a0001c0001t0007 a0004c0004t0002	a0001c0001t0007g0044 a0004c0004t0002g0033 a0001c0001t0007g0044 a0004c0004t0002g0033	2	276	0.0073	24	c.652 others(43): Show c.652+16794_652+16795insATATATATATATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158477798	T T	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18522.hp2 HG02559.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0255 a0001c0001t0004g0269 a0001c0001t0002g0255 a0001c0001t0004g0269	2	276	0.0073	24	c.652 others(43): Show c.652+16796_652+16797insTTATATATATATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158487949	G G	GGAAAAAA others(17): Show GGAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0248 a0001c0001t0006g0248	1	276	0.0036	24	c.652 others(43): Show c.652+26946_652+26947insGAAAAAAAAAAAAAAAAAAAAAAA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9			chr3	TogoVar
RSRC1_chr3_158105089_158550730	158549528	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0048 a0001c0001t0027g0048	1	276	0.0036	24	c.52 others(35): Show c.5253_*5254insAAAAAAAAAAAAAAAAATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3799		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158549528	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0040 a0001c0001t0009g0040	1	276	0.0036	24	c.52 others(35): Show c.5253_*5254insAAAAAAAAAAAAAAATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3799		chr3	TogoVar
RSU1_chr10_16585611_16822424	16646024	A A	ATATACAT others(17): Show ATATACATATATGTATACATATATG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp1 HG02258.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0032 a0001c0001t0006 a0001c0002t0032	a0001c0001t0006g0167 a0001c0002t0032g0013 a0001c0001t0006g0167 a0001c0002t0032g0013	2	190	0.0105	24	c.731 others(43): Show c.731+48998_731+48999insCATATATGTATACATATATGTATA	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16646054	A A	ATATATGT others(17): Show ATATATGTGTATATACATATATGTG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0064 a0001c0002t0002g0064	1	190	0.0053	24	c.731 others(43): Show c.731+48968_731+48969insCACATATATGTATATACACATATA	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16683160	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG01257.hp1 others(12): Show HG00544.hp1 HG00639.hp2 HG01257.hp1 HG01258.hp2 HG01884.hp2 HG01975.hp1 HG02055.hp2 HG02109.hp1 HG02155.hp1 HG02258.hp2 HG02280.hp2 HG02647.hp2 HG03130.hp1 HG03540.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 others(10): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0023 a0001c0001t0048 a0001c0001t0055 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0032 a0001c0002t0056 a0001c0003t0001	a0001c0001t0003g0183 a0001c0001t0009g0024 a0001c0001t0009g0044 others(12): Show a0001c0001t0003g0183 a0001c0001t0009g0024 a0001c0001t0009g0044 a0001c0001t0011g0032 a0001c0001t0013g0045 a0001c0001t0023g0118 a0001c0001t0048g0111 a0001c0001t0055g0158 a0001c0002t0003g0176 a0001c0002t0005g0093 a0001c0002t0005g0103 a0001c0002t0007g0140 a0001c0002t0032g0013 a0001c0002t0056g0131 a0001c0003t0001g0098	15	190	0.0790	24	c.731 others(43): Show c.731+11839_731+11862dupACACACACACACACACACACACAC	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16722855	T T	TATACATA others(17): Show TATACATATATGTATATATACACAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA19081.hp1 HG02970.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0007 a0001c0001t0006 a0001c0002t0007	a0001c0001t0006g0163 a0001c0002t0007g0153 a0001c0001t0006g0163 a0001c0002t0007g0153	2	190	0.0105	24	c.599 others(43): Show c.599-27701_599-27700insGTGTGTATATATACATATATGTAT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	7/8			chr10	TogoVar
RTEL1_chr20_63653312_63701245	63693456	T T	TCCACCTT others(17): Show TCCACCTTCACCACCACCACCTCCA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0004 a0002c0015t0004	a0002c0015t0004g0004 a0002c0015t0004g0004	1	60	0.0167	24	c.299 others(41): Show c.2992+179_2992+180insTCACCACCACCACCTCCACCACCT	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTEL1_chr20_63653312_63701245	63693456	T T	TCCACCTT others(17): Show TCCACCTTCACCACCTCCACCTTCA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	60	0.0167	24	c.299 others(41): Show c.2992+179_2992+180insTCACCACCTCCACCTTCACCACCT	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTEL1_chr20_63653312_63701245	63693462	T T	TTCACCAC others(17): Show TTCACCACCACCTCCACCTCCACCA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	60	0.0167	24	c.299 others(41): Show c.2992+179_2992+180insTCACCACCACCTCCACCTCCACCA	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34			chr20	TogoVar
RTL10_chr22_19841146_19859874	19847804	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG01168.hp1 HG01496.hp1 HG00099.hp1 HG01168.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0100 a0001c0001t0103 a0001c0001t0065 a0001c0001t0100 a0001c0001t0103	a0001c0001t0065g0067 a0001c0001t0100g0118 a0001c0001t0103g0120 a0001c0001t0065g0067 a0001c0001t0100g0118 a0001c0001t0103g0120	3	418	0.0072	24	c.33 others(35): Show c.3362_*3363insTTTTTTTTTTTTTTTTTTTTTTTT	RTL10	ENSG00000215012.9	transcript	ENST00000328554.9	protein_coding	3/3	3362		chr22	TogoVar
RTL4_chrX_112078016_112462514	112190139	C C	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0118 a0001c0002t0002g0118	1	134	0.0075	24	c.-44 others(45): Show c.-445+59083_-445+59106dupCTTTCTTTCTTTCTTTCTTTCTTT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL4_chrX_112078016_112462514	112236398	A A	AATATAGA others(17): Show AATATAGATATAGATCTATATCTAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01884.hp1 HG02056.hp1 others(10): Show HG01256.hp1 HG01884.hp1 HG02056.hp1 HG02135.hp1 HG02280.hp2 HG02486.hp1 HG02965.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp1 NA18944.hp1 NA18983.hp1 NA19079.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0003c0004	a0001c0002t0002 a0001c0003t0002 a0001c0003t0003 others(2): Show a0001c0002t0002 a0001c0003t0002 a0001c0003t0003 a0002c0001t0001 a0003c0004t0012	a0001c0002t0002g0004 a0001c0002t0002g0011 a0001c0002t0002g0035 others(10): Show a0001c0002t0002g0004 a0001c0002t0002g0011 a0001c0002t0002g0035 a0001c0002t0002g0113 a0001c0003t0002g0012 a0001c0003t0003g0013 a0002c0001t0001g0024 a0002c0001t0001g0033 a0002c0001t0001g0055 a0002c0001t0001g0057 a0002c0001t0001g0058 a0002c0001t0001g0092 a0003c0004t0012g0052	13	134	0.0970	24	c.-44 others(45): Show c.-444-69876_-444-69853dupCTATATCTATATATAGATATAGAT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL4_chrX_112078016_112462514	112236407	A A	ATAGATCT others(17): Show ATAGATCTATATCTATATATAGATC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02622.hp2 HG02630.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0003 a0002c0001t0001 a0001c0003t0003 a0002c0001t0001	a0001c0003t0003g0123 a0002c0001t0001g0020 a0001c0003t0003g0123 a0002c0001t0001g0020	2	134	0.0149	24	c.-44 others(45): Show c.-444-69931_-444-69930insCTAGATCTATATCTATATATAGAT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL4_chrX_112078016_112462514	112390106	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0110 a0001c0002t0002g0110	1	134	0.0075	24	c.-28 others(45): Show c.-284-40977_-284-40954dupATATATATATATATATATATATAT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTN1_chr14_59590983_59875776	59606125	T T	TATATATA others(17): Show TATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	172	0.0058	24	c.197 others(41): Show c.1974-620_1974-619insTTATATATATATATATATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	4/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59750034	C C	CATATATA others(17): Show CATATATATTATATATTATATACAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02280.hp2 HG02055.hp1 HG02145.hp2 HG02280.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0040 a0003c0004t0001g0080 a0003c0004t0001g0081 a0003c0004t0001g0040 a0003c0004t0001g0080 a0003c0004t0001g0081	3	172	0.0174	24	c.242 others(41): Show c.242-3554_242-3553insATGTATATAATATATAATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN3_chr11_63676500_63764882	63685495	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03041.hp1 NA18522.hp1 others(1): Show HG01109.hp2 HG03041.hp1 NA18522.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0007 a0002c0002t0017 a0002c0002t0001 a0002c0002t0007 a0002c0002t0017	a0002c0002t0001g0149 a0002c0002t0007g0032 a0002c0002t0007g0112 others(1): Show a0002c0002t0001g0149 a0002c0002t0007g0032 a0002c0002t0007g0112 a0002c0002t0017g0003	4	170	0.0235	24	c.142 others(41): Show c.142+3731_142+3732insAAAAAAAAAAAAAAAAAAAAAAAA	RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RTN3_chr11_63676500_63764882	63735550	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG06807.hp1 NA20805.hp2 HG04184.hp2 HG06807.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0005 a0001c0001t0001 a0002c0002t0001 a0003c0003t0005	a0001c0001t0001g0053 a0002c0002t0001g0019 a0003c0003t0005g0135 a0001c0001t0001g0053 a0002c0002t0001g0019 a0003c0003t0005g0135	3	170	0.0177	24	c.253 others(45): Show c.2531-14413_2531-14390dupCTCTCTCTCTCTCTCTCTCTCTCT	RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RTN4R_chr22_20236415_20273318	20246645	T T	TCCCTGGC others(17): Show TCCCTGGCCCCCACTGTTCCTGGGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	392	0.0026	24	c.23- others(39): Show c.23-3559_23-3536dupCCCCAGGAACAGTGGGGGCCAGGG	RTN4R	ENSG00000040608.14	transcript	ENST00000043402.8	protein_coding	1/1			chr22	TogoVar
RTN4_chr2_54967189_55055451	55022896	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01074.hp2 HG03130.hp2 others(7): Show HG00544.hp2 HG01074.hp2 HG03130.hp2 HG03710.hp1 NA18942.hp2 NA18968.hp1 NA19001.hp1 NA19064.hp2 NA19089.hp1 NA20905.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0007 a0001c0001 a0002c0002 a0007c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0022 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0022 a0002c0002t0002 a0002c0002t0003 a0007c0007t0004	a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0001g0233 others(7): Show a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0003g0246 a0001c0001t0022g0220 a0002c0002t0002g0047 a0002c0002t0003g0014 a0002c0002t0003g0020 a0002c0002t0003g0033 a0007c0007t0004g0064	10	350	0.0286	24	c.301 others(43): Show c.3013+2166_3013+2189dupGTGTGTGTGTGTGTGTGTGTGTGT	RTN4	ENSG00000115310.19	transcript	ENST00000337526.11	protein_coding	3/8			chr2	TogoVar
RTP3_chr3_46492976_46505950	46493833	G G	GCTCTCCC others(17): Show GCTCTCCCTCTCCCTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01074.hp2 HG01099.hp2 others(5): Show HG01071.hp1 HG01074.hp2 HG01099.hp2 HG03195.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0002g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0002g0001	8	426	0.0188	24	c.-42 others(35): Show c.-4230_-4229insCTCTCCCTCTCCCTCTCCCTCTCC	RTP3	ENSG00000163825.5	transcript	ENST00000296142.4	protein_coding		4142		chr3	TogoVar

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