Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
RNF213_chr17_80255852_80403794	80314733	ATGGTGGT others(20): Show ATGGTGGTGATGGTGATGGTGGAGGTAC	A A	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0006 a0003c0005t0006	a0003c0005t0006g0274 a0003c0005t0006g0274	1	243	0.0041	-27	c.281 others(46): Show c.2811+1570_2811+1596delTGGTGATGGTGATGGTGGAGGTACTG G	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314737	TGGTGATG others(20): Show TGGTGATGGTGATGGTGGAGGTACTGGA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0082 a0001c0082	a0001c0082t0005 a0001c0082t0005	a0001c0082t0005g0227 a0001c0082t0005g0227	1	268	0.0037	-27	c.281 others(46): Show c.2811+1581_2811+1607delATGGTGGAGGTACTGGAGGTGATGGT G	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315227	GGAGGTAC others(20): Show GGAGGTACTGGAGGTGATGGTGGTGGAC	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0114 a0002c0002t0004g0114	1	290	0.0034	-27	c.281 others(46): Show c.2812-1959_2812-1933delAGGTACTGGAGGTGATGGTGGTGGAC G	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80365108	GCAGTGGT others(20): Show GCAGTGGTGTCCAGCAACAGTGGCCACT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03453.hp2 HG02145.hp1 HG03453.hp2	a0024 a0024	a0024c0023 a0024c0023	a0024c0023t0003 a0024c0023t0003	a0024c0023t0003g0247 a0024c0023t0003g0248 a0024c0023t0003g0247 a0024c0023t0003g0248	2	290	0.0069	-27	c.118 others(46): Show c.11871+559_11871+585delTGGTGTCCAGCAACAGTGGCCACTCA G	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	42/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF216_chr7_5615047_5786663	5660265	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03195.hp2 HG02895.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0007 a0001c0001t0007 a0001c0002t0007	a0001c0001t0007g0152 a0001c0002t0007g0074 a0001c0001t0007g0152 a0001c0002t0007g0074	2	5	0.4000	-27	c.206 others(46): Show c.2062-7782_2062-7756delAAAAAAAAAAAAAAAAAAAAAAAAAA A	RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	13/16			chr7	TogoVar
RNFT2_chr12_116733315_116858631	116750824	TATATAAT others(20): Show TATATAATATATATATTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02074.hp1 HG02523.hp2 others(15): Show HG01192.hp2 HG02074.hp1 HG02523.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 NA18960.hp1 NA18977.hp2 NA19001.hp1 NA19043.hp1 NA19065.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0026 a0001c0001t0048 a0001c0001t0049 a0001c0002t0001 a0001c0013t0020	a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0002g0023 others(15): Show a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0002g0023 a0001c0001t0004g0109 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0172 a0001c0001t0004g0183 a0001c0001t0004g0185 a0001c0001t0007g0070 a0001c0001t0007g0169 a0001c0001t0007g0170 a0001c0001t0007g0174 a0001c0001t0026g0182 a0001c0001t0048g0241 a0001c0001t0049g0184 a0001c0002t0001g0076 a0001c0013t0020g0098	18	253	0.0711	-27	c.550 others(42): Show c.550+523_550+549delATATATATATTATATATATATAATATA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNGTT_chr6_88604897_88968618	88697886	TATGATAT others(20): Show TATGATATATATATATGATATATATATG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02145.hp2 HG03139.hp2 others(1): Show HG01175.hp1 HG02145.hp2 HG03139.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0124 others(1): Show a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0124 a0001c0001t0004g0125	4	215	0.0186	-27	c.144 others(48): Show c.1440-19494_1440-19468delCATATATATATCATATATATATAT CAT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
RNMT_chr18_13721673_13769556	13739966	TATTGAGA others(20): Show TATTGAGACGCTTTTAGTTCCTCTTGAA	T T	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	374	0.0027	-27	c.680 others(42): Show c.680-199_680-173delTTGAGACGCTTTTAGTTCCTCTTGAAA	RNMT	ENSG00000101654.18	transcript	ENST00000383314.7	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ROBO2_chr3_77035099_77654964	77090323	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0051 a0001c0001t0005g0051	1	3	0.3333	-27	c.62- others(42): Show c.62-7669_62-7643delTTTTTTTTTTTTTTTTTTTTTTTTTTT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77409001	TGAAATTA others(20): Show TGAAATTACAGGTGTGAGCCATCATACC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	160	0.0063	-27	c.389 others(46): Show c.389-68412_389-68386delGAAATTACAGGTGTGAGCCATCATAC C	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77410732	TTCCTCCT others(20): Show TTCCTCCTCCTTTTCCTCCTCCTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0053 a0001c0001t0011g0053	1	160	0.0063	-27	c.389 others(46): Show c.389-66671_389-66645delTTTCCTCCTCCTCTTCCTCCTCCTCC T	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROPN1L_chr5_10436879_10470026	10459318	CGCCTTCC others(20): Show CGCCTTCCACCCTCATCACTGGGTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	370	0.0027	-27	c.418 others(44): Show c.418-1840_418-1814delCTGCCTTCCACCCTCATCACTGGGTTC	ROPN1L	ENSG00000145491.12	transcript	ENST00000274134.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
ROR2_chr9_91717601_91955228	91797093	AGGGCTGA others(20): Show AGGGCTGACACCCTGGGCTCTGTGGGTG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0039 a0002c0039	a0002c0039t0003 a0002c0039t0003	a0002c0039t0003g0224 a0002c0039t0003g0224	1	224	0.0045	-27	c.98- others(44): Show c.98-21302_98-21276delCACCCACAGAGCCCAGGGTGTCAGCCC	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
ROR2_chr9_91717601_91955228	91798071	AGGGCTGA others(20): Show AGGGCTGACACCCTGGGCTCTGTGGGTG	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0111 a0003c0003t0002g0111	1	224	0.0045	-27	c.98- others(44): Show c.98-22280_98-22254delCACCCACAGAGCCCAGGGTGTCAGCCC	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
RORA_chr15_60483284_61234302	60543170	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02897.hp1 others(3): Show HG02258.hp1 HG02451.hp2 HG02897.hp1 HG02976.hp1 HG03486.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0008 a0001c0001t0022 a0001c0001t0054 others(3): Show a0001c0001t0008 a0001c0001t0022 a0001c0001t0054 a0001c0002t0055 a0001c0003t0027 a0001c0004t0008	a0001c0001t0008g0033 a0001c0001t0022g0117 a0001c0001t0054g0093 others(3): Show a0001c0001t0008g0033 a0001c0001t0022g0117 a0001c0001t0054g0093 a0001c0002t0055g0106 a0001c0003t0027g0039 a0001c0004t0008g0071	6	38	0.1579	-27	c.197 others(46): Show c.197-11346_197-11320delAAAAAAAAAAAAAAAAAAAAAAAAAA A	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61059988	GGAAGAAG others(20): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02257.hp1 HG03041.hp2 others(5): Show HG00438.hp1 HG02257.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp2 NA19003.hp2 NA19011.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0001c0001t0028 a0001c0001t0032 a0001c0001t0049 a0001c0004t0008 a0001c0005t0004	a0001c0001t0001g0046 a0001c0001t0010g0048 a0001c0001t0012g0025 others(5): Show a0001c0001t0001g0046 a0001c0001t0010g0048 a0001c0001t0012g0025 a0001c0001t0028g0016 a0001c0001t0032g0037 a0001c0001t0049g0003 a0001c0004t0008g0095 a0001c0005t0004g0024	8	36	0.2222	-27	c.166 others(48): Show c.166+169038_166+169064delTTCTTCTTCTTCTTCTTCTTCTTC TTC	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPA3_chr7_7631518_7723607	7673310	TAGCAGCA others(20): Show TAGCAGCAGCAGCAGCAGCAGCAGCAGC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02976.hp1 HG02109.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0104 a0001c0001t0012g0290 a0001c0001t0001g0104 a0001c0001t0012g0290	2	49	0.0408	-27	c.-75 others(48): Show c.-758+12493_-758+12519delGCTGCTGCTGCTGCTGCTGCTGCT GCT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPGRIP1_chr14_21275083_21356301	21343866	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01099.hp1 HG01192.hp2 others(5): Show HG00280.hp2 HG01099.hp1 HG01192.hp2 HG01256.hp2 HG01928.hp2 HG03139.hp1 HG03225.hp2 HG04204.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0003 a0001c0001 a0001c0004 a0003c0003	a0001c0001t0001 a0001c0004t0001 a0003c0003t0001 a0001c0001t0001 a0001c0004t0001 a0003c0003t0001	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0156 others(5): Show a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0168 a0001c0004t0001g0195 a0001c0004t0001g0220 a0001c0004t0001g0253 a0003c0003t0001g0108	8	25	0.3200	-27	c.353 others(44): Show c.3532+653_3532+679delTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPL13A_chr19_49482608_49497308	49497230	CAAAACAA others(20): Show CAAAACAAGAAGAGGGTCCTGCTGGGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	336	0.0030	-27	c.54 others(38): Show c.5416_*5442delAAAACAAGAAGAGGGTCCTGCTGGGAG	RPL13A	ENSG00000142541.18	transcript	ENST00000391857.9	protein_coding		4923		chr19	TogoVar
RPL34_chr4_108615576_108630370	108621793	AAATACAA others(20): Show AAATACAAGTAGTTTTAAAATGTGGAAT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	390	0.0026	-27	c.-9- others(40): Show c.-9-151_-9-125delAGTAGTTTTAAAATGTGGAATAATACA	RPL34	ENSG00000109475.17	transcript	ENST00000394667.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
RPL39L_chr3_187115948_187144496	187142559	TGAGTTGG others(20): Show TGAGTTGGGCACAGCCAAACCATATCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02970.hp1 NA19030.hp1 HG02055.hp1 HG02970.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0109 a0001c0001t0001g0025 a0001c0001t0001g0109	3	398	0.0075	-27	c.-34 others(38): Show c.-3466_-3440delGTGATATGGTTTGGCTGTGCCCAACTC	RPL39L	ENSG00000163923.10	transcript	ENST00000296277.9	protein_coding		3064		chr3	TogoVar
RPLP2_chr11_804967_817876	817788	GAACCCCT others(20): Show GAACCCCTTAGGTGCCCCACACGTGGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	426	0.0023	-27	c.49 others(38): Show c.4953_*4979delAACCCCTTAGGTGCCCCACACGTGGTT	RPLP2	ENSG00000177600.9	transcript	ENST00000321153.9	protein_coding		4913		chr11	TogoVar
RPS6KB1_chr17_59888121_59955574	59909226	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp2 HG01346.hp2 others(12): Show HG00140.hp1 HG01243.hp2 HG01346.hp2 HG02258.hp1 HG02622.hp2 HG02630.hp1 HG02818.hp2 HG03041.hp1 HG03098.hp2 HG03540.hp2 HG06807.hp2 NA18942.hp1 NA18943.hp1 NA18983.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0025 a0001c0001t0001 a0001c0001t0005 a0001c0001t0025	a0001c0001t0001g0117 a0001c0001t0001g0127 a0001c0001t0001g0138 others(12): Show a0001c0001t0001g0117 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0191 a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0019 a0001c0001t0025g0214	15	17	0.8824	-27	c.142 others(44): Show c.142-1303_142-1277delTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPS6KB1	ENSG00000108443.14	transcript	ENST00000225577.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPS6_chr9_19370715_19385236	19374357	CACCACAG others(20): Show CACCACAGAGAGGGTACCACTAAAAATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18973.hp2 NA18960.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	420	0.0048	-27	c.19 others(38): Show c.1909_*1935delAATTTTTAGTGGTACCCTCTCTGTGGT	RPS6	ENSG00000137154.13	transcript	ENST00000380394.9	protein_coding		1357		chr9	TogoVar
RPTOR_chr17_80539838_80971368	80918418	GGTCATAG others(20): Show GGTCATAGCCACGAGCACCCTCGCCGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(27): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG01496.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02559.hp2 HG02602.hp1 HG02683.hp2 HG02717.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0010 a0001c0011 others(20): Show a0001c0005 a0001c0010 a0001c0011 a0001c0012 a0001c0016 a0001c0019 a0001c0026 a0001c0029 a0001c0035 a0001c0038 a0001c0043 a0001c0044 a0001c0047 a0001c0054 a0001c0055 a0001c0056 a0001c0065 a0001c0073 a0001c0075 a0001c0084 a0001c0090 a0001c0091 a0002c0062	a0001c0005t0074 a0001c0010t0009 a0001c0010t0032 others(26): Show a0001c0005t0074 a0001c0010t0009 a0001c0010t0032 a0001c0010t0056 a0001c0010t0071 a0001c0010t0095 a0001c0011t0029 a0001c0012t0003 a0001c0016t0031 a0001c0019t0003 a0001c0019t0008 a0001c0026t0010 a0001c0026t0043 a0001c0029t0085 a0001c0035t0096 a0001c0038t0006 a0001c0043t0007 a0001c0044t0045 a0001c0047t0012 a0001c0054t0034 a0001c0055t0049 a0001c0056t0001 a0001c0065t0006 a0001c0073t0002 a0001c0075t0012 a0001c0084t0059 a0001c0090t0001 a0001c0091t0016 a0002c0062t0018	a0001c0005t0074g0009 a0001c0010t0009g0057 a0001c0010t0032g0058 others(27): Show a0001c0005t0074g0009 a0001c0010t0009g0057 a0001c0010t0032g0058 a0001c0010t0056g0187 a0001c0010t0071g0188 a0001c0010t0095g0053 a0001c0011t0029g0196 a0001c0012t0003g0192 a0001c0016t0031g0010 a0001c0016t0031g0011 a0001c0019t0003g0134 a0001c0019t0008g0037 a0001c0026t0010g0044 a0001c0026t0043g0099 a0001c0029t0085g0012 a0001c0035t0096g0041 a0001c0038t0006g0178 a0001c0043t0007g0176 a0001c0044t0045g0083 a0001c0047t0012g0150 a0001c0054t0034g0054 a0001c0055t0049g0086 a0001c0056t0001g0075 a0001c0065t0006g0104 a0001c0073t0002g0069 a0001c0075t0012g0127 a0001c0084t0059g0165 a0001c0090t0001g0161 a0001c0091t0016g0166 a0002c0062t0018g0182	30	190	0.1579	-27	c.252 others(46): Show c.2521-4255_2521-4229delCGGAGTCATAGCCACGAGCACCCTCG C	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	21/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80918521	GCGGGGGT others(20): Show GCGGGGGTCATAGCCATGAGCACCCTCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(26): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG01496.hp2 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02559.hp2 HG02602.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp1 NA18906.hp2	a0001 a0001	a0001c0007 a0001c0010 a0001c0011 others(18): Show a0001c0007 a0001c0010 a0001c0011 a0001c0016 a0001c0019 a0001c0026 a0001c0029 a0001c0035 a0001c0038 a0001c0043 a0001c0044 a0001c0047 a0001c0054 a0001c0055 a0001c0056 a0001c0065 a0001c0073 a0001c0075 a0001c0084 a0001c0090 a0001c0091	a0001c0007t0069 a0001c0007t0090 a0001c0010t0009 others(25): Show a0001c0007t0069 a0001c0007t0090 a0001c0010t0009 a0001c0010t0032 a0001c0010t0056 a0001c0010t0071 a0001c0010t0095 a0001c0011t0029 a0001c0016t0031 a0001c0019t0003 a0001c0019t0008 a0001c0026t0010 a0001c0026t0043 a0001c0029t0085 a0001c0035t0096 a0001c0038t0006 a0001c0043t0007 a0001c0044t0045 a0001c0047t0012 a0001c0054t0034 a0001c0055t0049 a0001c0056t0001 a0001c0065t0006 a0001c0073t0002 a0001c0075t0012 a0001c0084t0059 a0001c0090t0001 a0001c0091t0016	a0001c0007t0069g0128 a0001c0007t0090g0025 a0001c0010t0009g0057 others(26): Show a0001c0007t0069g0128 a0001c0007t0090g0025 a0001c0010t0009g0057 a0001c0010t0032g0058 a0001c0010t0056g0187 a0001c0010t0071g0188 a0001c0010t0095g0053 a0001c0011t0029g0196 a0001c0016t0031g0010 a0001c0016t0031g0011 a0001c0019t0003g0134 a0001c0019t0008g0037 a0001c0026t0010g0044 a0001c0026t0043g0099 a0001c0029t0085g0012 a0001c0035t0096g0041 a0001c0038t0006g0178 a0001c0043t0007g0176 a0001c0044t0045g0083 a0001c0047t0012g0150 a0001c0054t0034g0054 a0001c0055t0049g0086 a0001c0056t0001g0075 a0001c0065t0006g0104 a0001c0073t0002g0069 a0001c0075t0012g0127 a0001c0084t0059g0165 a0001c0090t0001g0161 a0001c0091t0016g0166	29	194	0.1495	-27	c.252 others(46): Show c.2521-4183_2521-4157delCACCCTCACGGGGGTCATAGCCATGA G	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	21/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RREB1_chr6_7102961_7256980	7108707	CCGGGGGT others(20): Show CCGGGGGTGCCTGCCCGGGGTGCTCGCG	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02615.hp2 HG01169.hp1 HG02615.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0024 a0004c0006t0024	a0004c0006t0024g0289 a0004c0006t0024g0290 a0004c0006t0024g0289 a0004c0006t0024g0290	2	290	0.0069	-27	c.-28 others(44): Show c.-285+661_-285+687delCCGGGGTGCTCGCGCGGGGGTGCCTGC	RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
RREB1_chr6_7102961_7256980	7237733	ATACTAAA others(20): Show ATACTAAACGGGCCCGTTTTCCTGCATC	A A	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0008 a0011c0018t0008	a0011c0018t0008g0032 a0011c0018t0008g0032	1	290	0.0034	-27	c.380 others(46): Show c.3809-2704_3809-2678delTACTAAACGGGCCCGTTTTCCTGCAT C	RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding	10/12			chr6	TogoVar
RRH_chr4_109822972_109849942	109849038	AGAGGTTA others(20): Show AGAGGTTATTTAATAACAAAATCAGGTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG02055.hp2 HG03486.hp2 HG00735.hp1 HG02055.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0035 a0001c0001t0007g0078 a0001c0001t0007g0035 a0001c0001t0007g0078	3	400	0.0075	-27	c.48 others(38): Show c.4842_*4868delGAGGTTATTTAATAACAAAATCAGGTT	RRH	ENSG00000180245.7	transcript	ENST00000317735.7	protein_coding		4097		chr4	TogoVar
RRM1_chr11_4089799_4143932	4095384	AACTGACG others(20): Show AACTGACGCTCAGAGCGAGGTGTCGCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(219): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19072.hp2 NA19077.hp1 NA19078.hp2 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0002 a0001c0004t0001 a0001c0006t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 others(198): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0072 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0330 a0001c0001t0001g0334 a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0333 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0033 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0173 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0003t0002g0006 a0001c0003t0002g0030 a0001c0003t0002g0031 a0001c0003t0002g0046 a0001c0003t0002g0171 a0001c0003t0002g0172 a0001c0004t0001g0032 a0001c0004t0001g0034 a0001c0004t0001g0043 a0001c0004t0001g0044 a0001c0004t0001g0174 a0001c0006t0001g0169	222	366	0.6066	-27	c.19+ others(40): Show c.19+360_19+386delGCTCAGAGCGAGGTGTCGCCGACTGAC	RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
RSPO1_chr1_37606350_37639892	37635035	CTCTGCGC others(20): Show CTCTGCGCTCCGAGCGCGGGGCTGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0158	1	420	0.0024	-27	c.-85 others(36): Show c.-852_-826delCCGCCAGCCCCGCGCTCGGAGCGCAGA	RSPO1	ENSG00000169218.14	transcript	ENST00000356545.7	protein_coding		144		chr1	TogoVar
RSPO2_chr8_107894316_108088620	108003293	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	188	0.0053	-27	c.95- others(44): Show c.95-14076_95-14050delAAAAAAAAATATATATATATATATATA	RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5			chr8	TogoVar
RSPO2_chr8_107894316_108088620	108003295	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA18522.hp2 HG01167.hp1 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0022 a0003c0003t0023 a0001c0001t0022 a0003c0003t0023	a0001c0001t0022g0222 a0003c0003t0023g0233 a0001c0001t0022g0222 a0003c0003t0023g0233	2	235	0.0085	-27	c.95- others(44): Show c.95-14078_95-14052delAAAAAAAAAAATATATATATATATATA	RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5			chr8	TogoVar
RSPO2_chr8_107894316_108088620	108003301	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG03225.hp2 HG02451.hp2 HG02647.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0217 a0001c0001t0008g0219 a0001c0001t0008g0220 a0001c0001t0008g0217 a0001c0001t0008g0219 a0001c0001t0008g0220	3	232	0.0129	-27	c.95- others(44): Show c.95-14084_95-14058delAAAAAAAAAAAAAAAAATATATATATA	RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5			chr8	TogoVar
RSPRY1_chr16_57181329_57245469	57186323	GGTGGGCT others(20): Show GGTGGGCTCTGCGCGTAATGGCAGCGCC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0237 a0001c0001t0026g0237	1	356	0.0028	-27	c.-27 others(36): Show c.-279_-253delGCTCTGCGCGTAATGGCAGCGCCGTGG	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/15	18305	INFO_REALIGN_3_PRIME	chr16	TogoVar
RSRC1_chr3_158105089_158550730	158399123	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp1 HG02886.hp2 others(7): Show HG01884.hp1 HG02559.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03209.hp2 HG03453.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0001 a0001c0001t0002 a0001c0001t0012	a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0002g0257 others(7): Show a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0012g0013 a0001c0001t0012g0261 a0001c0001t0012g0263 a0001c0001t0012g0267	10	180	0.0556	-27	c.583 others(46): Show c.583+44238_583+44264delTTTTTTTTTTTTTTTTTTTTTTTTTT T	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RTL1_chr14_100874753_100908722	100897748	TGGCGGGG others(20): Show TGGCGGGGGGGGGGGTGGGGGGGTGGGG	T T	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01433.hp1 HG01258.hp1 HG01433.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0009 a0003c0006t0009	a0003c0006t0009g0029 a0003c0006t0009g0029	2	426	0.0047	-27	c.-14 others(46): Show c.-148-4270_-148-4244delCCCCACCCCCCCACCCCCCCCCCCGC C	RTL1	ENSG00000254656.3	transcript	ENST00000649591.1	protein_coding	2/3			chr14	TogoVar
RTN1_chr14_59590983_59875776	59750159	TATATATT others(20): Show TATATATTATATCTATAATATATAATAC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	169	0.0059	-27	c.242 others(44): Show c.242-3705_242-3679delGTATTATATATTATAGATATAATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59819408	ACCACCAC others(20): Show ACCACCACCCCCCCCCCACCCCCCACCC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0081 a0003c0004t0001g0081	1	160	0.0063	-27	c.241 others(46): Show c.241+50955_241+50981delGGGTGGGGGGTGGGGGGGGGGTGGTG G	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59875152	CAAGTGAT others(20): Show CAAGTGATCCGCCCATCTCCGCCTCCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG01175.hp1 others(45): Show HG00639.hp2 HG01081.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01981.hp1 HG02055.hp1 HG02074.hp1 HG02080.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03942.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18944.hp1 NA18981.hp1 NA19011.hp1 NA19043.hp2 NA19082.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0007 a0002c0002 others(2): Show a0001c0001 a0001c0007 a0002c0002 a0003c0004 a0006c0005	a0001c0001t0001 a0001c0007t0004 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0007t0004 a0002c0002t0001 a0002c0002t0003 a0003c0004t0001 a0006c0005t0001	a0001c0001t0001g0054 a0001c0001t0001g0130 a0001c0001t0001g0131 others(45): Show a0001c0001t0001g0054 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0007t0004g0071 a0002c0002t0001g0163 a0002c0002t0003g0007 a0002c0002t0003g0128 a0002c0002t0003g0129 a0003c0004t0001g0018 a0003c0004t0001g0080 a0003c0004t0001g0081 a0006c0005t0001g0008	48	170	0.2824	-27	c.-45 others(38): Show c.-4549_-4523delTGGGAGGCGGAGATGGGCGGATCACTT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding		4377		chr14	TogoVar
RTP1_chr3_187192486_187206462	187200344	TCTCCAAC others(20): Show TCTCCAACTCCTGATCTAAACACCCATC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG03516.hp2 NA19043.hp2 HG00639.hp1 HG03516.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0008 a0001c0001t0015g0008	3	444	0.0068	-27	c.28 others(36): Show c.286_*312delGATCTAAACACCCATCCTCCAACTCCT	RTP1	ENSG00000175077.6	transcript	ENST00000312295.5	protein_coding	2/2	286	INFO_REALIGN_3_PRIME	chr3	TogoVar
RUNDC3B_chr7_87623398_87837296	87715341	TATAATAA others(20): Show TATAATAATTATATATAATTAATTTATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18952.hp1 NA18963.hp1 others(9): Show HG00423.hp1 NA18952.hp1 NA18963.hp1 NA18970.hp2 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18998.hp1 NA19060.hp2 NA19062.hp1 NA19082.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0015 a0001c0001t0023 others(3): Show a0001c0001t0014 a0001c0001t0015 a0001c0001t0023 a0001c0001t0033 a0001c0001t0045 a0001c0001t0048	a0001c0001t0014g0152 a0001c0001t0014g0155 a0001c0001t0014g0158 others(9): Show a0001c0001t0014g0152 a0001c0001t0014g0155 a0001c0001t0014g0158 a0001c0001t0015g0150 a0001c0001t0015g0151 a0001c0001t0015g0154 a0001c0001t0023g0039 a0001c0001t0023g0156 a0001c0001t0033g0037 a0001c0001t0033g0157 a0001c0001t0045g0160 a0001c0001t0048g0153	12	200	0.0600	-27	c.458 others(44): Show c.458+4692_458+4718delAATTATATATAATTAATTTATAATAAT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87736869	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0014 a0001c0001t0070g0014	1	199	0.0050	-27	c.459 others(44): Show c.459-2920_459-2894delATATATATATATATATATATTTTTTTT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNX1_chr21_34782801_35054302	35051078	TGTAATGT others(20): Show TGTAATGTGCAGCTGCCACTGCAGAGTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0073 a0001c0001t0005g0073	1	168	0.0060	-27	c.-19 others(38): Show c.-1997_-1971delGACTCTGCAGTGGCAGCTGCACATTAC	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding		1777		chr21	TogoVar
RUNX2_chr6_45323330_45556082	45404289	AAAAAAAA others(20): Show AAAAAAAAAAGGAAAAAAAAGAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19240.hp1 HG02965.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0158 a0001c0001t0001g0159	2	176	0.0114	-27	c.59- others(44): Show c.59-18295_59-18269delAGGAAAAAAAAGAAAAAAGAAAAAAAA	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RYR1_chr19_38428691_38592564	38590383	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0017 a0001c0011t0001g0017	1	216	0.0046	-27	c.29 others(38): Show c.2964_*2990delAAAAAAAAAAAATATATATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2820		chr19	TogoVar
RYR2_chr1_237037184_237838988	237350591	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp2 HG02257.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0028 a0001c0005t0031 a0001c0002t0028 a0001c0005t0031	a0001c0002t0028g0033 a0001c0005t0031g0028 a0001c0002t0028g0033 a0001c0005t0031g0028	2	99	0.0202	-27	c.274 others(44): Show c.274-5372_274-5346delAAAAAAAAAAATATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33336443	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0101 a0001c0101	a0001c0101t0001 a0001c0101t0001	a0001c0101t0001g0128 a0001c0101t0001g0128	1	129	0.0078	-27	c.51+ others(44): Show c.51+25348_51+25374delGAGAGAGAGAGAGAGAGAGAGAGAGAG	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103			chr15	TogoVar
RYR3_chr15_33305967_33871102	33336447	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG02630.hp1 others(2): Show HG00642.hp2 HG01070.hp2 HG02630.hp1 HG03130.hp1 NA20300.hp2	a0002 a0003 a0010 others(1): Show a0002 a0003 a0010 a0018	a0002c0091 a0002c0092 a0003c0106 others(2): Show a0002c0091 a0002c0092 a0003c0106 a0010c0017 a0018c0102	a0002c0091t0003 a0002c0092t0002 a0003c0106t0002 others(2): Show a0002c0091t0003 a0002c0092t0002 a0003c0106t0002 a0010c0017t0012 a0018c0102t0001	a0002c0091t0003g0154 a0002c0092t0002g0144 a0003c0106t0002g0080 others(2): Show a0002c0091t0003g0154 a0002c0092t0002g0144 a0003c0106t0002g0080 a0010c0017t0012g0079 a0018c0102t0001g0078	5	137	0.0365	-27	c.51+ others(44): Show c.51+25352_51+25378delGAGAGAGAGAGAGAGAGAGAGAGAGAG	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103			chr15	TogoVar
SAMD11_chr1_918923_949574	934261	GGGGAGGC others(20): Show GGGGAGGCGGCTGCGTTACAGGTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0266 a0004c0008t0002g0266	1	432	0.0023	-27	c.843 others(44): Show c.843-1507_843-1481delAGGCGGCTGCGTTACAGGTGGGCAGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results