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
RSPRY1_chr16_57181329_57245469	57202878	T T	TTTTATAT others(11): Show TTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0346 a0001c0001t0003g0346	1	358	0.0028	18	c.-15 others(37): Show c.-155-1625_-155-1624insTTATATATATATATATAT	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(11): Show CAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01099.hp2 HG02109.hp1 others(8): Show HG00280.hp2 HG01099.hp2 HG02109.hp1 HG02280.hp2 HG02572.hp2 HG02615.hp2 HG02735.hp2 HG04199.hp2 NA18983.hp2 NA18989.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0174 others(8): Show a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0174 a0001c0001t0002g0030 a0001c0001t0002g0236 a0001c0001t0003g0046 a0001c0001t0003g0129 a0001c0001t0004g0156 a0001c0001t0006g0212 a0001c0001t0006g0250 a0001c0001t0009g0039	11	276	0.0399	18	c.-36 others(29): Show c.-3655_-3654insAGAGAGAGAGAGAGAGAG	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3517		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158118462	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02683.hp1 HG00408.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0100 a0001c0001t0004g0214 a0001c0001t0001g0100 a0001c0001t0004g0214	2	276	0.0073	18	c.-2- others(33): Show c.-2-3640_-2-3639insTGTGTGTGTGTGCGCGCG	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158118462	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	276	0.0036	18	c.-2- others(33): Show c.-2-3640_-2-3639insTGTGTGTGTGTGTGCGCG	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158118462	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02055.hp2 HG02615.hp1 others(6): Show HG01433.hp1 HG02055.hp2 HG02615.hp1 HG02723.hp2 HG02965.hp1 HG04204.hp2 NA18969.hp2 NA18984.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0024	a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0219 others(6): Show a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0006g0029 a0001c0001t0024g0223	9	276	0.0326	18	c.-2- others(33): Show c.-2-3640_-2-3639insTGTGTGTGTGTGTGTGCG	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158180419	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03688.hp1 NA18970.hp1 HG01433.hp2 HG03688.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0247 a0001c0001t0002g0270 a0001c0001t0002g0241 a0001c0001t0002g0247 a0001c0001t0002g0270	3	276	0.0109	18	c.321 others(37): Show c.321-22640_321-22623dupGTGTGTGTGTGTGTGTGT	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(11): Show TTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	276	0.0036	18	c.321 others(33): Show c.321-509_321-508insTTATATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158316438	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA20752.hp1 HG01071.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0227 a0001c0001t0016g0225 a0001c0001t0001g0227 a0001c0001t0016g0225	2	276	0.0073	18	c.531 others(37): Show c.531+18372_531+18389dupTTTTTTTTTTTTTTTTTT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158321974	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	276	0.0036	18	c.531 others(37): Show c.531+23915_531+23932dupCACACACACACACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158334649	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA19086.hp1 HG03491.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0006 a0001c0001t0014	a0001c0001t0006g0067 a0001c0001t0014g0018 a0001c0001t0006g0067 a0001c0001t0014g0018	2	276	0.0073	18	c.532 others(37): Show c.532-20188_532-20171dupGTGTGTGTGTGTGTGTGT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158477798	T T	TTTTATAT others(11): Show TTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01433.hp2 HG01069.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0270 a0001c0001t0004g0038 a0001c0001t0002g0270 a0001c0001t0004g0038	2	276	0.0073	18	c.652 others(37): Show c.652+16796_652+16797insTTATATATATATATATAT	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(11): Show GGAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00738.hp2 others(3): Show HG00323.hp1 HG00597.hp2 HG00738.hp2 HG01123.hp2 NA18990.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0244 a0001c0001t0002g0108 a0001c0001t0002g0229 others(3): Show a0001c0001t0001g0244 a0001c0001t0002g0108 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0234	6	276	0.0217	18	c.652 others(37): Show c.652+26946_652+26947insGAAAAAAAAAAAAAAAAA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9			chr3	TogoVar
RSRC1_chr3_158105089_158550730	158518148	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0249 a0001c0001t0004g0249	1	276	0.0036	18	c.653 others(37): Show c.653-18941_653-18924dupTTTTTTTTTTTTTTTTTT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158529214	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0249 a0001c0001t0004g0249	1	276	0.0036	18	c.653 others(35): Show c.653-7877_653-7876insGTGTATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158545193	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0155 a0001c0001t0030g0155	1	276	0.0036	18	c.92 others(27): Show c.927_*944dupTTTTTTTTTTTTTTTTTT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	10/10	945	INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158547887	T T	TGCCAGTA others(11): Show TGCCAGTAAGGGTTTGCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0047 a0001c0001t0013g0047	1	276	0.0036	18	c.36 others(29): Show c.3612_*3613insGCCAGTAAGGGTTTGCAC	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		2158		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158549528	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0215 a0001c0001t0004g0215	1	276	0.0036	18	c.52 others(29): Show c.5253_*5254insAAAAAAAAAAAAAAAAAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3799		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158549528	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02886.hp1 HG00423.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0018 a0001c0001t0009 a0001c0001t0018	a0001c0001t0009g0012 a0001c0001t0018g0143 a0001c0001t0009g0012 a0001c0001t0018g0143	2	276	0.0073	18	c.52 others(29): Show c.5253_*5254insAAAAAAAAAAAAAAATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3799		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158549528	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG03831.hp1 NA18982.hp1 HG02129.hp2 HG03831.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0008 a0001c0001t0011	a0001c0001t0008g0121 a0001c0001t0011g0172 a0001c0001t0011g0183 a0001c0001t0008g0121 a0001c0001t0011g0172 a0001c0001t0011g0183	3	276	0.0109	18	c.52 others(29): Show c.5253_*5254insAAAAAAAAAAAAATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3799		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158549528	A A	AAAAAAAA others(11): Show AAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0001 a0001c0001t0013g0001	1	276	0.0036	18	c.52 others(29): Show c.5253_*5254insAAAAAAAAAAATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3799		chr3	TogoVar
RSU1_chr10_16585611_16822424	16682535	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02896.hp2 HG02280.hp1 HG02451.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0028 a0001c0001t0037 a0001c0001t0005 a0001c0001t0028 a0001c0001t0037	a0001c0001t0005g0112 a0001c0001t0028g0008 a0001c0001t0037g0039 a0001c0001t0005g0112 a0001c0001t0028g0008 a0001c0001t0037g0039	3	190	0.0158	18	c.731 others(37): Show c.731+12470_731+12487dupGTGTGTGTGTGTGTGTGT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16683160	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp1 HG03098.hp1 others(4): Show HG01891.hp2 HG02717.hp1 HG03098.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0024 a0001c0001t0042 others(2): Show a0001c0001t0013 a0001c0001t0024 a0001c0001t0042 a0001c0001t0049 a0001c0001t0050	a0001c0001t0013g0047 a0001c0001t0013g0067 a0001c0001t0024g0116 others(4): Show a0001c0001t0013g0047 a0001c0001t0013g0067 a0001c0001t0024g0116 a0001c0001t0024g0150 a0001c0001t0042g0046 a0001c0001t0049g0160 a0001c0001t0050g0161	7	190	0.0368	18	c.731 others(37): Show c.731+11845_731+11862dupACACACACACACACACAC	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16785405	T T	TATATATA others(11): Show TATATATATACATATATAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01358.hp1 HG02071.hp2 others(12): Show HG00408.hp1 HG01358.hp1 HG02071.hp2 HG02129.hp1 HG02257.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 NA18954.hp2 NA18960.hp2 NA18962.hp1 NA19005.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0010 a0001c0001t0024 others(5): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0024 a0001c0002t0002 a0001c0002t0011 a0001c0002t0020 a0001c0003t0001 a0001c0003t0005	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0151 others(12): Show a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0151 a0001c0001t0010g0028 a0001c0001t0024g0150 a0001c0002t0002g0072 a0001c0002t0011g0071 a0001c0002t0020g0073 a0001c0003t0001g0124 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0152 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0005g0135	15	190	0.0790	18	c.110 others(35): Show c.110-3322_110-3321insGTATATATGTATATATAT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	2/8			chr10	TogoVar
RTCA_chr1_100261216_100297769	100292641	T T	TATGTTTT others(11): Show TATGTTTTGGAAGCCAAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02572.hp2 HG03139.hp2 HG01891.hp1 HG02572.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0018 a0001c0001t0010 a0001c0001t0018	a0001c0001t0010g0187 a0001c0001t0010g0188 a0001c0001t0018g0186 a0001c0001t0010g0187 a0001c0001t0010g0188 a0001c0001t0018g0186	3	296	0.0101	18	c.11 others(29): Show c.1139_*1156dupTGTTTTGGAAGCCAAACA	RTCA	ENSG00000137996.13	transcript	ENST00000370128.9	protein_coding	11/11	1157	INFO_REALIGN_3_PRIME	chr1	TogoVar
RTEL1_chr20_63653312_63701245	63693456	T T	TCCACCAC others(11): Show TCCACCACCTCCACCACCA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0002 a0009c0019t0002	a0009c0019t0002g0014 a0009c0019t0002g0014	1	60	0.0167	18	c.299 others(35): Show c.2992+178_2992+179insACCTCCACCACCACCACC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTF1_chr15_41412095_41488563	41449227	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0223 a0001c0001t0005g0223	1	226	0.0044	18	c.310 others(35): Show c.310-3670_310-3653dupTTTTTTTTTTTTTTTTTT	RTF1	ENSG00000137815.15	transcript	ENST00000389629.9	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
RTF2_chr20_56463627_56524449	56505487	C C	CATAATAA others(11): Show CATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01167.hp2 HG01952.hp1 others(7): Show HG01074.hp1 HG01167.hp2 HG01952.hp1 HG02896.hp2 HG02897.hp2 HG03098.hp2 HG03239.hp1 HG03516.hp2 NA18612.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0275 others(5): Show a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0002g0036 a0001c0001t0002g0186 a0001c0001t0002g0193 a0001c0001t0002g0214 a0001c0001t0004g0020	10	388	0.0258	18	c.478 others(35): Show c.478-7815_478-7798dupATAATAATAATAATAATA	RTF2	ENSG00000022277.13	transcript	ENST00000357348.10	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTL10_chr22_19841146_19859874	19847804	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01167.hp1 HG01257.hp2 others(3): Show HG01070.hp1 HG01167.hp1 HG01257.hp2 HG03688.hp1 HG03704.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0024 a0001c0001t0016 a0001c0001t0024	a0001c0001t0016g0019 a0001c0001t0024g0027 a0001c0001t0016g0019 a0001c0001t0024g0027	6	418	0.0144	18	c.33 others(29): Show c.3345_*3362dupTTTTTTTTTTTTTTTTTT	RTL10	ENSG00000215012.9	transcript	ENST00000328554.9	protein_coding	3/3	3362		chr22	TogoVar
RTL4_chrX_112078016_112462514	112161840	C C	CTTCTTTC others(11): Show CTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0071 a0002c0001t0001g0071	1	134	0.0075	18	c.-44 others(39): Show c.-445+30739_-445+30740insTTCTTTCTTTCTTTCTTT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4			chrX	TogoVar
RTN1_chr14_59590983_59875776	59606125	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	172	0.0058	18	c.197 others(35): Show c.1974-620_1974-619insTTATATATATATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	4/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59645397	A A	ATTACATG others(11): Show ATTACATGTTTTCTACATG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03540.hp1 NA19043.hp2 HG01358.hp1 HG03540.hp1 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0029 a0002c0002t0004g0128 a0002c0002t0004g0129 a0002c0002t0004g0029 a0002c0002t0004g0128 a0002c0002t0004g0129	3	172	0.0174	18	c.176 others(39): Show c.1766-37906_1766-37905insCATGTAGAAAACATGTAA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	3/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59750507	T T	TATATATA others(11): Show TATATATAATATATCTATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02280.hp1 HG02622.hp2 others(12): Show HG01433.hp1 HG02280.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02896.hp1 HG02922.hp2 HG02976.hp2 HG03130.hp2 HG03209.hp1 HG03516.hp2 HG06807.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(12): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0100 a0001c0001t0001g0133 a0001c0001t0001g0169 a0001c0003t0001g0072 a0001c0003t0001g0101 a0001c0003t0001g0106	15	172	0.0872	18	c.242 others(35): Show c.242-4044_242-4027dupTATAGATATATTATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN2_chr19_45480294_45502047	45490535	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	432	0.0023	18	c.103 others(36): Show c.1034-1000_1034-983dupCACACACACACACACACA	RTN2	ENSG00000125744.12	transcript	ENST00000245923.9	protein_coding	5/10			chr19	TogoVar
RTN3_chr11_63676500_63764882	63735550	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG01099.hp1 others(10): Show HG00099.hp1 HG00558.hp2 HG01099.hp1 HG01106.hp1 HG02015.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG03710.hp1 NA18983.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0014 a0001c0005t0001 others(5): Show a0001c0001t0001 a0001c0001t0014 a0001c0005t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0003c0003t0005	a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0073 others(10): Show a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0073 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0014g0127 a0001c0005t0001g0109 a0002c0002t0001g0023 a0002c0002t0002g0036 a0002c0002t0003g0110 a0002c0002t0003g0142 a0002c0002t0006g0041 a0003c0003t0005g0134	13	170	0.0765	18	c.253 others(39): Show c.2531-14407_2531-14390dupCTCTCTCTCTCTCTCTCT	RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RTN4RL1_chr17_1929677_2030334	1948548	G G	GACAGGCA others(11): Show GACAGGCAGACAGGCAGAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 NA18906.hp1 HG01167.hp2 HG01169.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0216 a0001c0001t0011g0032 a0001c0001t0011g0042 a0001c0001t0003g0216 a0001c0001t0011g0032 a0001c0001t0011g0042	3	384	0.0078	18	c.14- others(35): Show c.14-10758_14-10741dupGTCTGCCTGTCTGCCTGT	RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding	1/1			chr17	TogoVar
RTN4RL1_chr17_1929677_2030334	1971961	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0111 a0001c0001t0084g0111	1	384	0.0026	18	c.14- others(35): Show c.14-34171_14-34154dupTTTTTTTTTTTTTTTTTT	RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding	1/1			chr17	TogoVar
RTN4RL1_chr17_1929677_2030334	2005739	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0048 a0001c0002t0004g0048	1	384	0.0026	18	c.13+ others(35): Show c.13+19096_13+19113dupGAGAGAGAGAGAGAGAGA	RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding	1/1			chr17	TogoVar
RTN4RL1_chr17_1929677_2030334	2007337	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0069 a0001c0002t0043g0069	1	384	0.0026	18	c.13+ others(35): Show c.13+17498_13+17515dupGTGTGTGTGTGTGTGTGT	RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding	1/1			chr17	TogoVar
RTN4_chr2_54967189_55055451	55022896	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp1 HG01167.hp1 others(27): Show HG00735.hp2 HG01070.hp1 HG01167.hp1 HG01257.hp1 HG01258.hp2 HG01496.hp2 HG01516.hp1 HG01952.hp2 HG02258.hp1 HG02451.hp2 HG02559.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG03491.hp2 HG03669.hp1 HG03704.hp2 HG03834.hp1 HG04204.hp2 HG06807.hp1 NA18950.hp1 NA18951.hp1 NA18963.hp2 NA18971.hp1 NA18972.hp2 NA18999.hp2 NA19007.hp1 NA19058.hp1 NA19087.hp1 NA19090.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0007 a0001c0001 a0002c0002 a0007c0007	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 a0002c0002t0019 a0007c0007t0004 a0007c0007t0013	a0001c0001t0001g0010 a0001c0001t0001g0219 a0001c0001t0001g0223 others(26): Show a0001c0001t0001g0010 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0255 a0001c0001t0003g0128 a0001c0001t0003g0129 a0002c0002t0001g0049 a0002c0002t0003g0013 a0002c0002t0003g0015 a0002c0002t0003g0016 a0002c0002t0003g0017 a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0030 a0002c0002t0003g0031 a0002c0002t0003g0044 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0019g0023 a0007c0007t0004g0063 a0007c0007t0004g0066 a0007c0007t0013g0064 a0007c0007t0013g0065	30	350	0.0857	18	c.301 others(37): Show c.3013+2172_3013+2189dupGTGTGTGTGTGTGTGTGT	RTN4	ENSG00000115310.19	transcript	ENST00000337526.11	protein_coding	3/8			chr2	TogoVar
RTP3_chr3_46492976_46505950	46493833	G G	GCTCTCCC others(11): Show GCTCTCCCTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01515.hp2 others(6): Show HG00639.hp2 HG00735.hp1 HG01515.hp2 HG02809.hp2 HG03516.hp1 HG04115.hp1 NA18522.hp2 NA18952.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0002g0015 a0001c0001t0001g0003 a0001c0001t0002g0015	9	426	0.0211	18	c.-42 others(29): Show c.-4230_-4229insCTCTCCCTCTCCCTCTCC	RTP3	ENSG00000163825.5	transcript	ENST00000296142.4	protein_coding		4142		chr3	TogoVar
RTP5_chr2_241864729_241878823	241869917	G G	GCGGCCAG others(11): Show GCGGCCAGAGGTTGGGGAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03486.hp1 HG02886.hp1 HG03486.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0009 a0001c0010t0009	a0001c0010t0009g0021 a0001c0010t0009g0021	2	365	0.0055	18	c.158 others(30): Show c.158+5_158+22dupGGCCAGAGGTTGGGGACC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
RTTN_chr18_69998031_70210687	70033856	T T	TAATACAA others(11): Show TAATACAAAAGATCCAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG00621.hp2 others(76): Show HG00099.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18948.hp1 NA18948.hp2 NA18971.hp1 NA18971.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0006 a0001c0007 a0001c0009 others(8): Show a0001c0006 a0001c0007 a0001c0009 a0001c0022 a0002c0001 a0002c0003 a0002c0016 a0002c0018 a0002c0019 a0002c0020 a0005c0015	a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 others(19): Show a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0001c0009t0004 a0001c0022t0004 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0005 a0002c0001t0007 a0002c0001t0009 a0002c0001t0011 a0002c0001t0013 a0002c0001t0024 a0002c0001t0025 a0002c0003t0001 a0002c0003t0026 a0002c0016t0001 a0002c0018t0005 a0002c0019t0011 a0002c0020t0001 a0005c0015t0001	a0001c0006t0001g0001 a0001c0006t0001g0122 a0001c0006t0001g0123 others(75): Show a0001c0006t0001g0001 a0001c0006t0001g0122 a0001c0006t0001g0123 a0001c0006t0001g0124 a0001c0006t0001g0125 a0001c0006t0001g0126 a0001c0007t0001g0145 a0001c0007t0001g0146 a0001c0007t0001g0147 a0001c0007t0001g0148 a0001c0007t0001g0149 a0001c0007t0001g0150 a0001c0009t0001g0039 a0001c0009t0001g0040 a0001c0009t0004g0142 a0001c0022t0004g0105 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0076 a0002c0001t0001g0078 a0002c0001t0001g0080 a0002c0001t0001g0084 a0002c0001t0001g0089 a0002c0001t0001g0094 a0002c0001t0001g0095 a0002c0001t0001g0096 a0002c0001t0001g0098 a0002c0001t0001g0100 a0002c0001t0001g0104 a0002c0001t0002g0103 a0002c0001t0004g0079 a0002c0001t0004g0092 a0002c0001t0005g0043 a0002c0001t0005g0044 a0002c0001t0005g0051 a0002c0001t0005g0077 a0002c0001t0005g0081 a0002c0001t0005g0082 a0002c0001t0005g0093 a0002c0001t0007g0059 a0002c0001t0007g0060 a0002c0001t0007g0061 a0002c0001t0007g0083 a0002c0001t0009g0090 a0002c0001t0009g0091 a0002c0001t0009g0099 a0002c0001t0011g0085 a0002c0001t0013g0070 a0002c0001t0024g0042 a0002c0001t0025g0045 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0068 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0088 a0002c0003t0001g0154 a0002c0003t0026g0101 a0002c0016t0001g0062 a0002c0018t0005g0097 a0002c0019t0011g0058 a0002c0020t0001g0071 a0005c0015t0001g0069	79	156	0.5064	18	c.554 others(37): Show c.5542-2876_5542-2875insTTTTGGATCTTTTGTATT	RTTN	ENSG00000176225.15	transcript	ENST00000640769.2	protein_coding	40/48			chr18	TogoVar
RTTN_chr18_69998031_70210687	70184716	T T	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0132 a0001c0010t0001g0132	1	156	0.0064	18	c.130 others(37): Show c.1305+3391_1305+3392insCAAAAAAAAAAAAAAAAA	RTTN	ENSG00000176225.15	transcript	ENST00000640769.2	protein_coding	10/48			chr18	TogoVar
RUBCNL_chr13_46329681_46392252	46331659	C C	CCCCATTG others(11): Show CCCCATTGCATGTACAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(101): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01496.hp2 HG01891.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02630.hp2 HG02818.hp2 HG03130.hp2 HG03239.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp1 NA18970.hp2 NA18972.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19089.hp2 NA19240.hp1	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0008 a0010	a0001c0001 a0001c0013 a0002c0002 others(3): Show a0001c0001 a0001c0013 a0002c0002 a0007c0007 a0008c0008 a0010c0012	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(25): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0025 a0001c0001t0028 a0001c0001t0063 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0013t0079 a0002c0002t0053 a0007c0007t0002 a0007c0007t0009 a0008c0008t0030 a0010c0012t0002	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0018 others(89): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0239 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0004g0009 a0001c0001t0004g0015 a0001c0001t0004g0023 a0001c0001t0004g0191 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0214 a0001c0001t0004g0249 a0001c0001t0009g0240 a0001c0001t0009g0266 a0001c0001t0009g0268 a0001c0001t0009g0274 a0001c0001t0009g0288 a0001c0001t0009g0298 a0001c0001t0012g0252 a0001c0001t0012g0253 a0001c0001t0012g0262 a0001c0001t0012g0295 a0001c0001t0012g0297 a0001c0001t0017g0195 a0001c0001t0017g0203 a0001c0001t0017g0205 a0001c0001t0018g0256 a0001c0001t0018g0257 a0001c0001t0018g0258 a0001c0001t0025g0204 a0001c0001t0025g0207 a0001c0001t0028g0261 a0001c0001t0028g0287 a0001c0001t0063g0170 a0001c0001t0066g0206 a0001c0001t0067g0192 a0001c0001t0068g0200 a0001c0001t0076g0208 a0001c0001t0077g0237 a0001c0001t0078g0275 a0001c0001t0080g0238 a0001c0001t0081g0293 a0001c0001t0082g0286 a0001c0001t0083g0271 a0001c0001t0085g0280 a0001c0001t0086g0254 a0001c0001t0087g0301 a0001c0013t0079g0276 a0002c0002t0053g0055 a0007c0007t0002g0245 a0007c0007t0009g0223 a0008c0008t0030g0312 a0008c0008t0030g0313 a0010c0012t0002g0255	104	356	0.2921	18	c.11 others(31): Show c.11725_*11726insCACTGTACATGCAATGGG	RUBCNL	ENSG00000102445.20	transcript	ENST00000429979.6	protein_coding		3021		chr13	TogoVar
RUBCNL_chr13_46329681_46392252	46362923	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03942.hp2 HG04228.hp1 others(3): Show HG02486.hp2 HG03942.hp2 HG04228.hp1 NA18943.hp1 NA18991.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0031 a0002c0002t0005 a0001c0001t0002 a0001c0001t0031 a0002c0002t0005	a0001c0001t0002g0018 a0001c0001t0002g0251 a0001c0001t0031g0303 others(2): Show a0001c0001t0002g0018 a0001c0001t0002g0251 a0001c0001t0031g0303 a0002c0002t0005g0105 a0002c0002t0005g0139	6	356	0.0169	18	c.925 others(33): Show c.925+191_925+192insATATATATATATATATAT	RUBCNL	ENSG00000102445.20	transcript	ENST00000429979.6	protein_coding	6/14			chr13	TogoVar
RUBCNL_chr13_46329681_46392252	46362931	T T	TATATATA others(11): Show TATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA19085.hp2 HG02135.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0283 a0001c0001t0002g0284	2	356	0.0056	18	c.925 others(33): Show c.925+183_925+184insCTATATATATATATATAT	RUBCNL	ENSG00000102445.20	transcript	ENST00000429979.6	protein_coding	6/14			chr13	TogoVar
RUFY1_chr5_179545554_179615012	179579657	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01074.hp2 others(27): Show HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01358.hp2 HG01884.hp2 HG01943.hp1 HG02040.hp2 HG02083.hp1 HG02132.hp1 HG02735.hp1 HG03471.hp2 HG03927.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18961.hp1 NA18964.hp2 NA18986.hp1 NA18997.hp1 NA18997.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp2 NA19062.hp1 NA19064.hp1 NA19084.hp2 NA19240.hp1 NA20752.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0003c0017 a0007c0013	a0001c0001t0001 a0001c0002t0002 a0001c0004t0003 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0003 a0003c0017t0001 a0007c0013t0003	a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0034 others(27): Show a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0137 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0014 a0001c0004t0003g0172 a0001c0004t0003g0174 a0001c0004t0003g0175 a0001c0004t0003g0177 a0001c0004t0003g0178 a0001c0004t0003g0182 a0001c0004t0003g0260 a0001c0004t0003g0261 a0001c0004t0003g0263 a0003c0017t0001g0054 a0007c0013t0003g0187	30	376	0.0798	18	c.891 others(35): Show c.891-1285_891-1268dupTTTTTTTTTTTTTTTTTT	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RUFY1_chr5_179545554_179615012	179580241	G G	GTGTGTGT others(11): Show GTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00733.hp1 HG01069.hp1 others(9): Show HG00423.hp1 HG00733.hp1 HG01069.hp1 HG01070.hp2 HG01106.hp2 HG01192.hp2 HG02027.hp2 HG02300.hp1 NA18964.hp1 NA18978.hp2 NA19068.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0002 a0001c0005t0002 a0001c0003t0002 a0001c0005t0002	a0001c0003t0002g0216 a0001c0003t0002g0217 a0001c0003t0002g0228 others(9): Show a0001c0003t0002g0216 a0001c0003t0002g0217 a0001c0003t0002g0228 a0001c0003t0002g0229 a0001c0003t0002g0241 a0001c0003t0002g0242 a0001c0003t0002g0253 a0001c0003t0002g0256 a0001c0003t0002g0257 a0001c0005t0002g0240 a0001c0005t0002g0245 a0001c0005t0002g0246	12	376	0.0319	18	c.891 others(33): Show c.891-705_891-704insGTGTGTGTATATATATAT	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RUFY1_chr5_179545554_179615012	179580241	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0226 a0001c0003t0002g0226	1	376	0.0027	18	c.891 others(33): Show c.891-705_891-704insGTGTGTGTGTATATATAT	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RUFY2_chr10_68338408_68412277	68366759	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01975.hp1 HG01975.hp2 others(8): Show HG00408.hp2 HG01975.hp1 HG01975.hp2 HG03017.hp2 NA18946.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp2 NA18977.hp1 NA18995.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0203 a0001c0002t0002g0213 a0001c0002t0002g0216 others(8): Show a0001c0002t0002g0203 a0001c0002t0002g0213 a0001c0002t0002g0216 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0228 a0001c0002t0002g0235 a0001c0002t0002g0254	11	276	0.0399	18	c.132 others(37): Show c.1326-2647_1326-2646insTTATATATATATATATAT	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	13/17			chr10	TogoVar

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