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
RRP12_chr10_97351701_97406340	97398020	T T	TACATATA others(23): Show TACATATATATATATATATATATACATATAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0202 a0001c0011t0001g0202	1	397	0.0025	30	c.370 others(47): Show c.370-1720_370-1719insGTATATGTATATATATATATATATATAT GT	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33			chr10	TogoVar
RRP12_chr10_97351701_97406340	97398022	T T	TACATATA others(23): Show TACATATATATATATATATATATACATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01255.hp2 HG01069.hp2 HG01071.hp1 HG01255.hp2	a0001 a0001	a0001c0011 a0001c0019 a0001c0011 a0001c0019	a0001c0011t0001 a0001c0019t0001 a0001c0011t0001 a0001c0019t0001	a0001c0011t0001g0204 a0001c0019t0001g0205 a0001c0019t0001g0206 a0001c0011t0001g0204 a0001c0019t0001g0205 a0001c0019t0001g0206	3	398	0.0075	30	c.370 others(47): Show c.370-1722_370-1721insGTATATGTATATATATATATATATATAT GT	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33			chr10	TogoVar
RRP7A_chr22_42503344_42524796	42509848	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG01358.hp1 others(2): Show HG00408.hp2 HG00639.hp1 HG01358.hp1 NA18949.hp2 NA18994.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0004 a0002c0001 a0003c0004	a0002c0001t0018 a0003c0004t0046 a0002c0001t0018 a0003c0004t0046	a0002c0001t0018g0016 a0003c0004t0046g0221 a0003c0004t0046g0224 a0002c0001t0018g0016 a0003c0004t0046g0221 a0003c0004t0046g0224	5	355	0.0141	30	c.30 others(41): Show c.3061_*3062insACACACACACACACACACACACACACACAC	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7	3061		chr22	TogoVar
RRP7A_chr22_42503344_42524796	42509850	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00673.hp1 HG02135.hp1 others(7): Show HG00544.hp1 HG00673.hp1 HG02135.hp1 HG02145.hp2 HG04204.hp1 NA18949.hp1 NA18983.hp1 NA18984.hp2 NA18992.hp1 NA19074.hp2	a0002 a0004 a0002 a0004	a0002c0001 a0004c0005 a0002c0001 a0004c0005	a0002c0001t0009 a0002c0001t0123 a0004c0005t0085 a0002c0001t0009 a0002c0001t0123 a0004c0005t0085	a0002c0001t0009g0017 a0002c0001t0009g0035 a0002c0001t0009g0060 others(4): Show a0002c0001t0009g0017 a0002c0001t0009g0035 a0002c0001t0009g0060 a0002c0001t0009g0078 a0002c0001t0009g0106 a0002c0001t0123g0070 a0004c0005t0085g0214	10	138	0.0725	30	c.30 others(41): Show c.3059_*3060insACACACACACACACACACACACACACACAC	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7	3059		chr22	TogoVar
RSBN1L_chr7_77691459_77788022	77725244	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	101	0.0099	30	c.587 others(49): Show c.587-11145_587-11144insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
RSBN1L_chr7_77691459_77788022	77784318	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0042 a0002c0003t0007g0042	1	84	0.0119	30	c.51 others(41): Show c.5150_*5151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding		1297		chr7	TogoVar
RSPH14_chr22_23054415_23146990	23130489	G G	GAAGAAAG others(23): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0183 a0009c0012t0001g0183	1	309	0.0032	30	c.421 others(47): Show c.421+3536_421+3537insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RSPH14_chr22_23054415_23146990	23130496	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG00642.hp2 others(29): Show HG00099.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01943.hp1 HG02015.hp2 HG02055.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp2 HG02698.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03654.hp2 HG03688.hp1 HG04199.hp1 NA18960.hp2 NA18965.hp1 NA18983.hp1 NA18989.hp2 NA19081.hp1 NA19085.hp2 NA19090.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0010 others(3): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003 a0003c0004 a0007c0008	a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 a0002c0003t0001 a0003c0004t0001 a0007c0008t0001	a0001c0001t0001g0129 a0001c0001t0001g0150 a0001c0001t0001g0170 others(29): Show a0001c0001t0001g0129 a0001c0001t0001g0150 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0001g0271 a0001c0001t0001g0302 a0001c0002t0001g0021 a0001c0002t0001g0044 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0072 a0001c0002t0001g0085 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0095 a0001c0002t0001g0110 a0001c0002t0001g0141 a0001c0010t0001g0283 a0002c0003t0001g0117 a0002c0003t0001g0125 a0002c0003t0001g0126 a0003c0004t0001g0179 a0007c0008t0001g0259	32	43	0.7442	30	c.421 others(47): Show c.421+3529_421+3530insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RSPH3_chr6_158967871_159005202	158984434	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19079.hp1 HG03130.hp2 NA19079.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0002 a0003c0004t0047 a0002c0002t0002 a0003c0004t0047	a0002c0002t0002g0172 a0003c0004t0047g0136 a0002c0002t0002g0172 a0003c0004t0047g0136	2	46	0.0435	30	c.347 others(45): Show c.347-628_347-627insTATATATATATATATATATATATATATAAA	RSPH3	ENSG00000130363.13	transcript	ENST00000367069.7	protein_coding	3/7			chr6	TogoVar
RSPRY1_chr16_57181329_57245469	57225571	A A	AAGTGAGG others(23): Show AAGTGAGGAGAGAGATTGGAAAAAAAGTTCT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0307 a0001c0001t0003g0307	1	356	0.0028	30	c.116 others(49): Show c.1162-1771_1162-1770insAGTGAGGAGAGAGATTGGAAAAAAAG TTCT	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	10/14			chr16	TogoVar
RSRC1_chr3_158105089_158550730	158106571	C C	CAGAGAGA others(23): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0113 a0001c0001t0017g0113	1	43	0.0233	30	c.-36 others(41): Show c.-3655_-3654insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3517		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	78	0.0128	30	c.321 others(45): Show c.321-491_321-490insATATATATATATATATATATATATATATAT	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(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG01258.hp1 others(7): Show HG00280.hp1 HG00544.hp2 HG01258.hp1 HG03704.hp2 NA18943.hp2 NA18952.hp2 NA18954.hp1 NA18971.hp1 NA18984.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0025 a0001c0001t0001 a0001c0001t0005 a0001c0001t0025	a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0067 others(7): Show a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0221 a0001c0001t0005g0056 a0001c0001t0025g0175	10	87	0.1149	30	c.321 others(45): Show c.321-509_321-508insTTATATATATATATATATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158229338	A A	ATGTATGT others(23): Show ATGTATGTATATAAACATACACACGTATATG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0172 a0001c0001t0010g0172	1	274	0.0036	30	c.494 others(49): Show c.494+26105_494+26106insAACATACACACGTATATGTGTATGTA TATA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158229382	A A	ATATATAT others(23): Show ATATATATACACATATACACACGTATATGTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0044 a0001c0001t0007g0044	1	189	0.0053	30	c.494 others(49): Show c.494+26138_494+26139insATATATACACATATACACACGTATAT GTGT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158477798	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0009 a0001c0001t0009g0009	1	21	0.0476	30	c.652 others(49): Show c.652+16824_652+16825insATATATATATATATATATATATATAT ATAT	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(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp1 HG02683.hp2 others(3): Show HG00738.hp2 HG01192.hp1 HG02683.hp2 NA18747.hp2 NA19077.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011	a0001c0001t0002g0108 a0001c0001t0002g0247 a0001c0001t0002g0273 others(3): Show a0001c0001t0002g0108 a0001c0001t0002g0247 a0001c0001t0002g0273 a0001c0001t0004g0193 a0001c0001t0004g0256 a0001c0001t0011g0190	6	26	0.2308	30	c.652 others(49): Show c.652+16796_652+16797insTTATATATATATATATATATATATAT ATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSU1_chr10_16585611_16822424	16645908	A A	ATGTATAT others(23): Show ATGTATATATATATGTGTATATACATATATG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0021 a0001c0001t0009g0021	1	153	0.0065	30	c.731 others(49): Show c.731+49114_731+49115insCATATATGTATATACACATATATATA TACA	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16683160	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02717.hp2 HG02970.hp2 others(4): Show HG02486.hp2 HG02717.hp2 HG02970.hp2 HG03130.hp2 HG03486.hp1 HG03654.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0012 a0001c0001t0018 others(4): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0018 a0001c0001t0057 a0001c0002t0001 a0001c0002t0010 a0001c0002t0020	a0001c0001t0006g0163 a0001c0001t0012g0068 a0001c0001t0018g0011 others(4): Show a0001c0001t0006g0163 a0001c0001t0012g0068 a0001c0001t0018g0011 a0001c0001t0057g0115 a0001c0002t0001g0121 a0001c0002t0010g0070 a0001c0002t0020g0073	7	100	0.0700	30	c.731 others(49): Show c.731+11862_731+11863insACACACACACACACACACACACACAC ACAC	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RTEL1_chr20_63653312_63701245	63693456	T T	TCCACCAC others(23): Show TCCACCACCTCCACCACCACCTCCACCACCA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	41	0.0244	30	c.299 others(47): Show c.2992+178_2992+179insACCTCCACCACCACCTCCACCACCACCA CC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTEL1_chr20_63653312_63701245	63693492	T T	TCCACCTC others(23): Show TCCACCTCCACCACCTCCACCACCACCTCCA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	36	0.0278	30	c.299 others(47): Show c.2992+223_2992+224insTCCACCACCACCTCCACCACCTCCACCA CC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTL4_chrX_112078016_112462514	112161889	T T	TTTCTTTC others(23): Show TTTCTTTCTTTCTTTCTTTCTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0108 a0002c0001t0001g0108	1	33	0.0303	30	c.-44 others(51): Show c.-445+30793_-445+30794insTCTTTCTTTCTTTCTTCTTTCTTT CTTCTT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL4_chrX_112078016_112462514	112190176	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0070 a0002c0001t0001g0070	1	114	0.0088	30	c.-44 others(51): Show c.-445+59079_-445+59108dupCTTTCTTTCTTTCTTTCTTTCTTT CTTTTT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL9_chrX_110353848_110461334	110378008	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0127 a0001c0002t0006g0127	1	98	0.0102	30	c.-16 others(51): Show c.-168+19116_-168+19117insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	RTL9	ENSG00000243978.9	transcript	ENST00000520821.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTN1_chr14_59590983_59875776	59749190	A A	ATATATAT others(23): Show ATATATATCTATATATATATCTATATATATC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG02630.hp1 others(6): Show HG02486.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG03209.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 others(6): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0005c0008t0001g0170	9	158	0.0570	30	c.242 others(47): Show c.242-2739_242-2710dupGATATATATAGATATATATATAGATATA TA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59749266	C C	CTATATAT others(23): Show CTATATATATCTATATATCTATATATATCTA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	155	0.0065	30	c.242 others(47): Show c.242-2786_242-2785insTAGATATATATAGATATATAGATATATA TA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59750514	A A	AATATATC others(23): Show AATATATCTATAATATATATATCTATAATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	170	0.0059	30	c.242 others(47): Show c.242-4034_242-4033insATATTATAGATATATATATTATAGATAT AT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN3_chr11_63676500_63764882	63685495	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0111 a0002c0002t0006g0111	1	8	0.1250	30	c.142 others(47): Show c.142+3731_142+3732insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RTN4RL1_chr17_1929677_2030334	2013706	G G	GCCAGCTC others(23): Show GCCAGCTCCCTCACCCTGGAACATAAATACC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp2 HG02723.hp2 others(4): Show HG02145.hp1 HG02572.hp2 HG02723.hp2 HG02976.hp2 HG03139.hp2 NA18522.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0069 a0001c0001t0086 a0001c0001t0111 others(4): Show a0001c0001t0069 a0001c0001t0086 a0001c0001t0111 a0001c0002t0004 a0001c0002t0036 a0003c0004t0010 a0003c0004t0035	a0001c0001t0069g0074 a0001c0001t0086g0044 a0001c0001t0111g0341 others(4): Show a0001c0001t0069g0074 a0001c0001t0086g0044 a0001c0001t0111g0341 a0001c0002t0004g0045 a0001c0002t0036g0214 a0003c0004t0010g0281 a0003c0004t0035g0251	7	380	0.0184	30	c.13+ others(47): Show c.13+11117_13+11146dupGGTATTTATGTTCCAGGGTGAGGGAGCT GG	RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding	1/1			chr17	TogoVar
RTP3_chr3_46492976_46505950	46493833	G G	GCTCTCCC others(23): Show GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18985.hp1 NA19082.hp2 NA18973.hp2 NA18985.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	3	52	0.0577	30	c.-42 others(41): Show c.-4230_-4229insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	RTP3	ENSG00000163825.5	transcript	ENST00000296142.4	protein_coding		4142		chr3	TogoVar
RUBCNL_chr13_46329681_46392252	46362923	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18985.hp1 NA19058.hp2 NA18982.hp2 NA18985.hp1 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0029 a0002c0002t0005 a0001c0001t0029 a0002c0002t0005	a0001c0001t0029g0248 a0001c0001t0029g0270 a0002c0002t0005g0105 a0001c0001t0029g0248 a0001c0001t0029g0270 a0002c0002t0005g0105	3	121	0.0248	30	c.925 others(45): Show c.925+191_925+192insATATATATATATATATATATATATATATAT	RUBCNL	ENSG00000102445.20	transcript	ENST00000429979.6	protein_coding	6/14			chr13	TogoVar
RUFY2_chr10_68338408_68412277	68359464	G G	GCTACTAT others(23): Show GCTACTATATATAAAAATATATATAGTAGTA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	274	0.0036	30	c.155 others(49): Show c.1551-4093_1551-4064dupTACTACTATATATATTTTTATATATA GTAG	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	15/17			chr10	TogoVar
RUFY3_chr4_70716964_70813619	70765209	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATACATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00597.hp1 others(31): Show HG00408.hp1 HG00438.hp1 HG00597.hp1 HG01258.hp1 HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02074.hp1 HG02132.hp2 HG03927.hp1 NA18942.hp1 NA18955.hp2 NA18956.hp2 NA18968.hp1 NA18970.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19009.hp1 NA19056.hp1 NA19057.hp2 NA19065.hp2 NA19084.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0030	a0001c0001t0003g0012 a0001c0001t0003g0016 a0001c0001t0003g0017 others(31): Show a0001c0001t0003g0012 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0006g0056 a0001c0001t0006g0121 a0001c0001t0006g0178 a0001c0001t0012g0020 a0001c0001t0012g0037 a0001c0001t0012g0061 a0001c0001t0030g0173	34	168	0.2024	30	c.572 others(45): Show c.572+634_572+635insGTGTATATATATATATACATATATATATAT	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RUFY3_chr4_70716964_70813619	70774644	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0023 a0001c0001t0039g0023	1	115	0.0087	30	c.759 others(45): Show c.759-523_759-522insAAAAAAAAAAAATATATATATATATATATA	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RUFY3_chr4_70716964_70813619	70787187	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0221 a0001c0001t0019g0221	1	93	0.0108	30	c.107 others(49): Show c.1072-1618_1072-1617insAAAAAAAAAATATATATATATATATA TATA	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RUNDC3B_chr7_87623398_87837296	87652621	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG04199.hp1 NA19043.hp2 HG02055.hp1 HG04199.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0044 a0001c0001t0055 a0001c0001t0040 a0001c0001t0044 a0001c0001t0055	a0001c0001t0040g0013 a0001c0001t0044g0169 a0001c0001t0055g0020 a0001c0001t0040g0013 a0001c0001t0044g0169 a0001c0001t0055g0020	3	88	0.0341	30	c.238 others(47): Show c.238+1709_238+1710insTATATATATATATATATATATATATATA TA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(23): Show ATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	57	0.0175	30	c.88+ others(47): Show c.88+15411_88+15412insCACACACACATATATATATATATATATA TA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(23): Show ATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG04204.hp2 HG02896.hp1 HG02897.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0065 a0001c0002t0006 a0001c0001t0065 a0001c0002t0006	a0001c0001t0065g0023 a0001c0002t0006g0045 a0001c0002t0006g0046 a0001c0001t0065g0023 a0001c0002t0006g0045 a0001c0002t0006g0046	3	59	0.0508	30	c.88+ others(47): Show c.88+15411_88+15412insCACACACACACACATATATATATATATA TA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(23): Show ATATATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0082 a0001c0001t0019g0082	1	57	0.0175	30	c.88+ others(47): Show c.88+15411_88+15412insCACACACACACACACATATATATATATA TA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(23): Show ATATATATATATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02976.hp1 HG01257.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0054 a0001c0001t0005 a0001c0001t0054	a0001c0001t0005g0095 a0001c0001t0054g0032 a0001c0001t0005g0095 a0001c0001t0054g0032	2	58	0.0345	30	c.88+ others(47): Show c.88+15411_88+15412insCACACACACACACACACATATATATATA TA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(23): Show ATATATATATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0041 a0001c0001t0019g0041	1	57	0.0175	30	c.88+ others(47): Show c.88+15411_88+15412insCACACACACACACACACACATATATATA TA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(23): Show ATATATATATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0056 a0001c0001t0023g0056	1	57	0.0175	30	c.88+ others(47): Show c.88+15411_88+15412insCACACACACACACACACACACATATATA TA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1_chr21_34782801_35054302	34930270	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0116 a0001c0001t0025g0116	1	106	0.0094	30	c.59- others(47): Show c.59-37308_59-37307insTATATATATATATATATACACACACACA CA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34967319	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00642.hp2 HG00438.hp2 HG00621.hp1 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0065 a0001c0001t0001g0152 a0001c0001t0014g0040 a0001c0001t0001g0065 a0001c0001t0001g0152 a0001c0001t0014g0040	3	16	0.1875	30	c.59- others(47): Show c.59-74386_59-74357dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	35049662	G G	GCTCCGAC others(23): Show GCTCCGACAGGATGTGGATCCCATCATTTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0073 a0001c0001t0005g0073	1	168	0.0060	30	c.-58 others(39): Show c.-584_-555dupTTAAATGATGGGATCCACATCCTGTCGGAG	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding		361		chr21	TogoVar
RUNX2_chr6_45323330_45556082	45485695	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19030.hp1 HG02109.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0009 a0001c0001t0012	a0001c0001t0009g0025 a0001c0001t0012g0147 a0001c0001t0009g0025 a0001c0001t0012g0147	2	114	0.0175	30	c.686 others(47): Show c.686-6245_686-6244insATATATATATATATATATATATATATAT AT	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RUNX2_chr6_45323330_45556082	45485695	G G	GTATGTAT others(23): Show GTATGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	113	0.0088	30	c.686 others(47): Show c.686-6245_686-6244insATGTATATATATATATATATATATATAT AT	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp2 HG03688.hp1 others(3): Show HG00099.hp2 HG00621.hp2 HG03688.hp1 HG03942.hp1 NA18998.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0233 a0001c0001t0001g0332 others(3): Show a0001c0001t0001g0157 a0001c0001t0001g0233 a0001c0001t0001g0332 a0001c0001t0001g0378 a0001c0001t0001g0389 a0001c0001t0001g0398	6	10	0.6000	30	c.535 others(47): Show c.535-1977_535-1948dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	25	0.0400	30	c.49+ others(47): Show c.49+20085_49+20086insATATATATATATATATATATATATTTTT TT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	25	0.0400	30	c.49+ others(47): Show c.49+20085_49+20086insATATATATATATATATATATATTTTTTT TT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar

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