Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RAB2A_chr8_60511987_60628644	60626831	T T	TCATGGAT others(98): Show TCATGGATAAGACATATGAAGTCTCTGAGGAATTGTATTAATGCCCCATT TTAAGAGTACAGTGCAGATTGAAAATATTTCTTAAAAACTGGATGCTTGG ATAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0095 a0001c0001t0015g0095	1	358	0.0028	105	c.60 others(116): Show c.6062_*6063insCATGGATAAGACATATGAAGTCTCTGAGGAATTG TATTAATGCCCCATTTTAAGAGTACAGTGCAGATTGAAAATATTTCTTAA AAACTGGATGCTTGGATAAGA		RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding					3188		chr8	TogoVar
RAB31_chr18_9703301_9867551	9815290	A A	ACTGTCCT others(98): Show ACTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCC TGAGTGTCATGCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTG TAGATG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG00738.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0256 a0001c0001t0001g0227 a0001c0001t0001g0256	2	322	0.0062	105	c.380 others(120): Show c.380+127_380+128insGCGTGTAGATGCTGTCCTCCATCCCTGAGT GTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGAT GCTGTCCTCCATCCCTGAGTGTCAT		RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB40C_chr16_585066_634268	585295	A A	ACCCCCAA others(98): Show ACCCCCAACCTGTGCCTCCCGCTCCCCCCAGCTGCCCACCGGGTCCACCA ACACCCCCAACCTGTGCCTCCCGCTCCCCCCAGCTGCCCACCGGGTCCAC CAACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	350	0.0029	105	c.-49 others(116): Show c.-4997_-4996insCCCCCAACCTGTGCCTCCCGCTCCCCCCAGCTGC CCACCGGGTCCACCAACACCCCCAACCTGTGCCTCCCGCTCCCCCCAGCT GCCCACCGGGTCCACCAACAC		RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding					4770		chr16	TogoVar
RADIL_chr7_4792055_4888716	4886301	T T	TATATATA others(98): Show TATATATATATATATATATATATGTATATATATATATATATATGTATATA TATATATATATATGTATATATATATATATATATATATACATATATATATA TATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0065 a0002c0002t0002g0065	1	292	0.0034	105	c.-27 others(116): Show c.-2771_-2770insTATATATATATATATATGTATATATATATATATA TATATATACATATATATATATATATATACATATATATATATATATATACA TATATATATATATATATATAT		RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding					2586		chr7	TogoVar
RAI1_chr17_17676458_17816453	17808414	A A	ATTTTATT others(98): Show ATTTTATTTTATTTTATTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0011 a0002c0002t0006g0011	1	252	0.0040	105	c.566 others(122): Show c.5660-974_5660-973insTTATTTTATTTTATTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTT		RAI1	ENSG00000108557.20	transcript	ENST00000353383.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr17	TogoVar
RASA3_chr13_113972783_114137623	114043899	C C	CGCCCCGC others(98): Show CGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCTC CCCCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCT CCCCCA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	67	0.0149	105	c.278 others(122): Show c.278-2806_278-2805insTGGGGGAGCTCAGCGAGTGAGGCGGGGC GGGGGGCTCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGAGTGAGGCGGGG CGGGGGGCTCAGCGAGTGAGGCGGGGC		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23						chr13	TogoVar
RASSF5_chr1_206502531_206594448	206524637	A A	AAATATAT others(98): Show AAATATATATTATATATTATGTATAATATATAAAATATATATTATGTATA ATATATAAAATATATATTATGTATAATATATAAAATATATATTATATATT ATGTAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0105 a0001c0004t0007g0105	1	346	0.0029	105	c.458 others(124): Show c.458-13504_458-13503insAAATATATATTATGTATAATATATAA AATATATATTATGTATAATATATAAAATATATATTATATATTATGTATAA TATATATTATATATTATGTATAATATATA		RASSF5	ENSG00000266094.8	transcript	ENST00000579436.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
RBBP8NL_chr20_62405237_62432539	62417538	C C	CGTCTGTT others(98): Show CGTCTGTTCCGTCCACGCACCACCCCCCCCAGTCATCTGCACGCTCCTCT GTGACGTCTGTCCCGTCCACGCACCCCCCCCAGTCATCTGCACGCTCCTC TGTGAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp2 NA20129.hp2 HG02717.hp2 HG02886.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0111 a0001c0001t0004g0146 a0001c0001t0004g0148 a0001c0001t0004g0111 a0001c0001t0004g0146 a0001c0001t0004g0148	3	432	0.0069	105	c.105 others(120): Show c.105-220_105-219insATCACAGAGGAGCGTGCAGATGACTGGGGG GGGTGCGTGGACGGGACAGACGTCACAGAGGAGCGTGCAGATGACTGGGG GGGGTGGTGCGTGGACGGAACAGAC		RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	3/13						chr20	TogoVar
RBFOX1_chr16_6014024_7718340	7022007	T T	TCCCCTCC others(98): Show TCCCCTCCCCTTCCCCCTCTCCCTCCCCTCCCCTTCCCCCTCCCCTTCCC CCTCCCCTCCCCTTCCCCCTCCCCTTCCCCCTCCCCTCCCCTTCCCCCTC CCCTTC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	68	0.0147	105	c.-15 others(124): Show c.-15-30045_-15-30044insCCCCTTCCCCCTCTCCCTCCCCTCCC CTTCCCCCTCCCCTTCCCCCTCCCCTCCCCTTCCCCCTCCCCTTCCCCCT CCCCTCCCCTTCCCCCTCCCCTTCCCCCT		RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79555443	T T	TGATGGTG others(98): Show TGATGGTGATTATGAGAGTAGTGATGGTGGTGATGGCGATGGTAATGGTG ATAATGGCGATGATGGTGGTGATGGTGATGATGATAGTAATGATGGTGGT GATGGC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp2 HG03239.hp2 others(4): Show HG02717.hp1 HG02723.hp2 HG03239.hp2 HG03453.hp1 HG03540.hp2 NA18906.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0019 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0019 a0001c0001t0026 a0001c0002t0002 a0001c0002t0009	a0001c0001t0001g0087 a0001c0001t0005g0142 a0001c0001t0005g0144 others(4): Show a0001c0001t0001g0087 a0001c0001t0005g0142 a0001c0001t0005g0144 a0001c0001t0019g0038 a0001c0001t0026g0106 a0001c0002t0002g0134 a0001c0002t0009g0041	7	154	0.0455	105	c.-32 others(126): Show c.-320+55382_-320+55383insGCCATCACCACCATCATTACTATC ATCATCACCATCACCACCATCATCGCCATTATCACCATTACCATCGCCAT CACCACCATCACTACTCTCATAATCACCATC		RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14						chr17	TogoVar
RET_chr10_43072069_43135351	43088299	G G	GGTCATGA others(98): Show GGTCATGATGGTGAAGGTGGGGATGGTGGTGGTAGAGGCAGTGGTTGTGA TGGTGGTGATGGAGGCGGTGGTGTTAGTGGAGGTGATGGTGATGGTGGTG GTGGAA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0217 a0001c0002t0002g0217	1	382	0.0026	105	c.73+ others(122): Show c.73+11001_73+11105dupAGAGGCAGTGGTTGTGATGGTGGTGATG GAGGCGGTGGTGTTAGTGGAGGTGATGGTGATGGTGGTGGTGGAAGTCAT GATGGTGAAGGTGGGGATGGTGGTGGT		RET	ENSG00000165731.21	transcript	ENST00000355710.8	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr10	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(98): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	276	0.0036	105	c.132 others(122): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTT		RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24						chr4	TogoVar
RFLNA_chr12_124290093_124321024	124296162	T T	TCTTTCTT others(98): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTTTCTCTCTCTC TCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01255.hp2 HG01358.hp1 others(1): Show HG01169.hp1 HG01255.hp2 HG01358.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0327 a0001c0001t0001g0328 others(1): Show a0001c0001t0001g0270 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329	4	388	0.0103	105	c.207 others(120): Show c.207+526_207+527insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTCTCTCTTTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTC		RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2						chr12	TogoVar
RGS12_chr4_3288021_3444913	3412971	A A	ACGTCAGG others(98): Show ACGTCAGGAGGGACGGGGGTGCCCCCATACTGCTCGCGTCAGGAGGGACG GGGGCGCCCCCACACTGCTCGCATCAGGAGGGACGGGGGCGCCCCCACAC TGCTCG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp1 HG01071.hp2 others(1): Show HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01109.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0001 a0001c0010t0001g0176 a0001c0010t0001g0179 a0001c0010t0001g0001 a0001c0010t0001g0176 a0001c0010t0001g0179	4	312	0.0128	105	c.202 others(124): Show c.2021-1083_2021-1082insTGCCCCCATACTGCTCGCGTCAGGAG GGACGGGGGCGCCCCCACACTGCTCGCATCAGGAGGGACGGGGGCGCCCC CACACTGCTCGCGTCAGGAGGGACGGGGG		RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS7BP_chr5_64501015_64617319	64605882	G G	GTATATAT others(98): Show GTATATATATGCTATATATATGTATATCTGGATACATATATATATGCTAT ATATATGTATATCTGGATACATATATATATGCTATATATATGTATATCTG GATACA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0268 a0001c0001t0004g0268	1	280	0.0036	105	c.683 others(122): Show c.683-3234_683-3130dupGCTATATATATGTATATCTGGATACATA TATATATGCTATATATATGTATATCTGGATACATATATATATGCTATATA TATGTATATCTGGATACATATATATAT		RGS7BP	ENSG00000186479.5	transcript	ENST00000334025.3	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
RGSL1_chr1_182445146_182565597	182533300	T T	TTTTTTTT others(98): Show TTTTTTTTTTTTTTGTTCAACAATGTATCTTGGACATCATTTTATGTCAG TACACATATATCTGCCTTGTTTTTGACTGCCATAAAATGTCCATTATATG GATTAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01243.hp2 HG01346.hp2 others(24): Show HG00544.hp2 HG01243.hp2 HG01346.hp2 HG01884.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 NA18949.hp2 NA21309.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0012 a0014	a0001c0001 a0001c0005 a0001c0007 others(4): Show a0001c0001 a0001c0005 a0001c0007 a0003c0003 a0004c0012 a0012c0020 a0014c0014	a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 others(4): Show a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 a0003c0003t0001 a0004c0012t0001 a0012c0020t0001 a0014c0014t0001	a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0166 others(24): Show a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0218 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0005t0001g0010 a0001c0005t0001g0108 a0001c0005t0001g0112 a0001c0005t0001g0171 a0001c0005t0001g0268 a0001c0007t0001g0194 a0003c0003t0001g0117 a0003c0003t0001g0145 a0003c0003t0001g0153 a0004c0012t0001g0222 a0004c0012t0001g0326 a0012c0020t0001g0228 a0014c0014t0001g0167	27	338	0.0799	105	c.249 others(122): Show c.2494+512_2494+616dupTTTTTTTTTTTGTTCAACAATGTATCTT GGACATCATTTTATGTCAGTACACATATATCTGCCTTGTTTTTGACTGCC ATAAAATGTCCATTATATGGATTAATT		RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding	14/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF13_chr3_149808215_149967139	149875897	A A	AAAATATA others(98): Show AAAATATAATTGTTTGGAAATGTTAGTTTTTGGTGAGCATTTGAGATTAA AAAACATTGTTGGCACTTTAGAAATAAATTAAGGCTGTATTAAATCTTTT AATTAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00621.hp2 others(73): Show HG00323.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02027.hp2 HG02074.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02683.hp2 HG02738.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp2 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18952.hp2 NA18961.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18972.hp1 NA18973.hp1 NA18988.hp2 NA18995.hp1 NA19006.hp1 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19058.hp2 NA19077.hp2 NA19084.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0004c0005 others(1): Show a0001c0001 a0001c0002 a0004c0005 a0006c0007	a0001c0001t0001 a0001c0001t0011 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0011 a0001c0002t0002 a0001c0002t0003 a0004c0005t0001 a0006c0007t0001	a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 others(73): Show a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0142 a0001c0001t0001g0201 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0011g0226 a0001c0002t0002g0222 a0001c0002t0002g0227 a0001c0002t0003g0085 a0001c0002t0003g0086 a0001c0002t0003g0087 a0001c0002t0003g0096 a0001c0002t0003g0098 a0001c0002t0003g0101 a0001c0002t0003g0109 a0004c0005t0001g0080 a0004c0005t0001g0081 a0006c0007t0001g0071	76	280	0.2714	105	c.321 others(122): Show c.321+3746_321+3747insTATAATTGTTTGGAAATGTTAGTTTTTG GTGAGCATTTGAGATTAAAAAACATTGTTGGCACTTTAGAAATAAATTAA GGCTGTATTAAATCTTTTAATTAGAAA		RNF13	ENSG00000082996.20	transcript	ENST00000392894.8	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
RNF167_chr17_4935268_4950222	4944992	C C	CAATTGAA others(98): Show CAATTGAAACAGAGTAATTAGATCTGGTAGACAATCTAATGCACATGCAT TAATGAAATGTGATAATTGATTGGCAAACATGTATTATGAGGTGGAAGGT TTTTTT	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG01257.hp1 HG01257.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0003 a0003c0006t0001g0003	1	440	0.0023	105	c.102 others(114): Show c.1029_1030insAATTGAAACAGAGTAATTAGATCTGGTAGACAATCT AATGCACATGCATTAATGAAATGTGATAATTGATTGGCAAACATGTATTA TGAGGTGGAAGGTTTTTTT	p.Pro others(118): Show p.Pro343_Ser344insAsnTerAsnArgValIleArgSerGlyArgGl nSerAsnAlaHisAlaLeuMetLysCysAspAsnTerLeuAlaAsnMetT yrTyrGluValGluGlyPhePhe	RNF167	ENSG00000108523.16	transcript	ENST00000262482.11	protein_coding	10/10	1546/1775	1030/1053	344/350			chr17	TogoVar
RNF213_chr17_80255852_80403794	80274697	G G	GGGTGAGT others(98): Show GGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGGTGAG TGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGTGGGGTGA GTGTGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp2 HG02630.hp1 HG02818.hp2	a0002 a0027 a0002 a0027	a0002c0100 a0027c0101 a0002c0100 a0027c0101	a0002c0100t0058 a0027c0101t0037 a0002c0100t0058 a0027c0101t0037	a0002c0100t0058g0255 a0027c0101t0037g0254 a0002c0100t0058g0255 a0027c0101t0037g0254	2	292	0.0069	105	c.261 others(122): Show c.261+1295_261+1296insTGAGTGGGGTGAGTGTGGGGGGTGAGTG GGGTGAGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTC TGTGGGGGGTGTGGGGTGAGTGTGTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315468	A A	ATGGTGGT others(98): Show ATGGTGGTGGTGAAGGTGATGGTAGAGGTAATGGAAGTGATGGTGGAGGT ACTGGAGGTGATGGTGGTGGTGGTGGAGGTGACAGTGGTGATGCTGGTGG TGGAGG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18990.hp1 NA18979.hp2 NA18990.hp1	a0001 a0005 a0001 a0005	a0001c0004 a0005c0007 a0001c0004 a0005c0007	a0001c0004t0072 a0005c0007t0009 a0001c0004t0072 a0005c0007t0009	a0001c0004t0072g0164 a0005c0007t0009g0218 a0001c0004t0072g0164 a0005c0007t0009g0218	2	292	0.0069	105	c.281 others(124): Show c.2812-1714_2812-1713insTGGTGAAGGTGATGGTAGAGGTAATG GAAGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGAGGTGAC AGTGGTGATGCTGGTGGTGGAGGTGGTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
ROPN1L_chr5_10436879_10470026	10458595	T T	TCATGTAC others(98): Show TCATGTACACCGTCCCCACCATGTACATCATCCCCCCATGTACACCGTCC CCACCATGTACACCATCCCCCCATGTACACCGTCCCCACCATGTACACCA TCCCCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0266 a0001c0001t0004g0266	1	374	0.0027	105	c.418 others(122): Show c.418-2587_418-2483dupATGTACACCGTCCCCACCATGTACATCA TCCCCCCATGTACACCGTCCCCACCATGTACACCATCCCCCCATGTACAC CGTCCCCACCATGTACACCATCCCCCC		ROPN1L	ENSG00000145491.12	transcript	ENST00000274134.5	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
RORA_chr15_60483284_61234302	61071397	G G	GGAGGGGA others(98): Show GGAGGGGAGGGGAGGGAAGGGGAGGGGAGGGGAAGGAAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAAGGGAGGGGAGGGGATGGGAAGGGAGGGGAGG GGAGGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01884.hp2 HG03139.hp2 others(2): Show HG00735.hp2 HG01884.hp2 HG03139.hp2 HG03486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0010 a0001c0001t0013 a0001c0001t0036 others(2): Show a0001c0001t0010 a0001c0001t0013 a0001c0001t0036 a0001c0001t0045 a0001c0005t0004	a0001c0001t0010g0088 a0001c0001t0013g0072 a0001c0001t0036g0102 others(2): Show a0001c0001t0010g0088 a0001c0001t0013g0072 a0001c0001t0036g0102 a0001c0001t0045g0004 a0001c0005t0004g0027	5	118	0.0424	105	c.166 others(126): Show c.166+157655_166+157656insTCCTCCCCTCCCCTCCCTTCCCAT CCCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCTT CCCCTCCCCTCCCCTTCCCTCCCCTCCCCTC		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10						chr15	TogoVar
RPA2_chr1_27886524_27919575	27916978	C C	CCCTTCCT others(98): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTCCTTCCTTCCTCCCTCCCTCCC TCCCTCCCTTCCTTCCTTCCTCCTTCCTCCTTCCTTCCTCCCTCCCTCCC TCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02055.hp2 HG02257.hp2 others(4): Show HG01106.hp1 HG02055.hp2 HG02257.hp2 HG02559.hp1 HG02965.hp1 NA18906.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0032 a0001c0001t0002g0123 others(2): Show a0001c0001t0002g0019 a0001c0001t0002g0032 a0001c0001t0002g0123 a0001c0001t0002g0133 a0001c0001t0002g0134	7	364	0.0192	105	c.-25 others(116): Show c.-2536_-2535insAAGGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAG GAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAG GAAGGAAGGAAGGAAGGAAGG		RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding					2404		chr1	TogoVar
RPA3_chr7_7631518_7723607	7637658	T T	TAGTTATA others(98): Show TAGTTATATAAAACTGTATGTTATGTAATTACATACAGTTATATAAAACT GTATGTTATGTAATTACATACAGTTATATAAAACTGTATGTTATGTAATT ACATAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01346.hp2 HG01891.hp2 others(9): Show HG01109.hp1 HG01346.hp2 HG01891.hp2 HG02132.hp2 HG02486.hp1 NA18952.hp2 NA18968.hp1 NA18985.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0018	a0001c0001t0001g0095 a0001c0001t0002g0007 a0001c0001t0002g0087 others(7): Show a0001c0001t0001g0095 a0001c0001t0002g0007 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0005g0001 a0001c0001t0005g0097 a0001c0001t0018g0292	12	308	0.0390	105	c.283 others(120): Show c.283+101_283+205dupGTATGTAATTACATAACATACAGTTTTATA TAACTGTATGTAATTACATAACATACAGTTTTATATAACTGTATGTAATT ACATAACATACAGTTTTATATAACT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	7/7						chr7	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GAGAGAGA others(98): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0072 a0001c0002t0072	a0001c0002t0072g0148 a0001c0002t0072g0148	1	266	0.0038	105	c.-28 others(114): Show c.-285_-284insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGA		RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22				36451		chr12	TogoVar
RPL28_chr19_55380932_55397085	55396500	C C	CCCCTCCC others(98): Show CCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCTCCCTCCCCTCCCC TCCCCTCCCCACCCATCCCCACCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	314	0.0032	105	c.81 others(116): Show c.8168_*8169insCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCC CTCCCTCCCCTCCCCTCCCCTCCCCACCCATCCCCACCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCT		RPL28	ENSG00000108107.15	transcript	ENST00000344063.7	protein_coding					4416		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761921	T T	TTTCTTTC others(98): Show TTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTT TCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	366	0.0027	105	c.-15 others(116): Show c.-1516_-1515insTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCT CTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTTTCTTTCTTTCTTTCTTTC		RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding					1082		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761921	T T	TTTCTTTC others(98): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCC TTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0348 a0001c0001t0104g0348	1	366	0.0027	105	c.-15 others(116): Show c.-1516_-1515insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTCTTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTC		RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding					1082		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80665331	C C	CCCTTTCC others(98): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19007.hp2 HG00423.hp2 NA19007.hp2	a0001 a0001	a0001c0017 a0001c0061 a0001c0017 a0001c0061	a0001c0017t0005 a0001c0061t0009 a0001c0017t0005 a0001c0061t0009	a0001c0017t0005g0031 a0001c0061t0009g0040 a0001c0017t0005g0031 a0001c0061t0009g0040	2	196	0.0102	105	c.348 others(124): Show c.348+21589_348+21693dupTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665331	C C	CTTTTTCC others(98): Show CTTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0131 a0001c0002t0008g0131	1	196	0.0051	105	c.348 others(124): Show c.348+21521_348+21522insTTTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33						chr17	TogoVar
RSPH10B2_chr7_6749103_6803765	6797861	A A	AAATACAC others(98): Show AAATACACACACACACACACACACACACACACACACACACATATACATAC ACACACACACACACATATATATACACACACATATATATATACACACACAC ACACAT	intron_variant intron_variant	MODIFIER	HG03492.hp2 NA18953.hp2 HG03492.hp2 NA18953.hp2	a0002 a0022 a0002 a0022	a0002c0002 a0022c0027 a0002c0002 a0022c0027	a0002c0002t0001 a0022c0027t0001 a0002c0002t0001 a0022c0027t0001	a0002c0002t0001g0063 a0022c0027t0001g0024 a0002c0002t0001g0063 a0022c0027t0001g0024	2	108	0.0185	105	c.243 others(122): Show c.2433-500_2433-499insTACACACACACACACACACACACACACA CACACACACATATACATACACACACACACACACATATATATACACACACA TATATATATACACACACACACACATAA		RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
RSPH10B2_chr7_6749103_6803765	6797863	A A	ATACACAC others(98): Show ATACACACACACACACACACACACACACACACACACACACATATACATAC ACACACACACACACATATATATACACACACATATATATATACACACACAC ACACAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01261.hp1 HG01517.hp1 others(7): Show HG00741.hp1 HG01261.hp1 HG01517.hp1 HG02015.hp2 HG03239.hp1 HG03492.hp1 HG03669.hp1 HG03704.hp1 HG03942.hp2 HG04228.hp1	a0002 a0003 a0018 a0002 a0003 a0018	a0002c0002 a0002c0004 a0003c0003 others(1): Show a0002c0002 a0002c0004 a0003c0003 a0018c0038	a0002c0002t0001 a0002c0004t0001 a0003c0003t0001 others(1): Show a0002c0002t0001 a0002c0004t0001 a0003c0003t0001 a0018c0038t0001	a0002c0002t0001g0053 a0002c0004t0001g0020 a0002c0004t0001g0021 others(7): Show a0002c0002t0001g0053 a0002c0004t0001g0020 a0002c0004t0001g0021 a0002c0004t0001g0075 a0003c0003t0001g0018 a0003c0003t0001g0022 a0003c0003t0001g0025 a0003c0003t0001g0028 a0003c0003t0001g0029 a0018c0038t0001g0026	10	108	0.0926	105	c.243 others(122): Show c.2433-500_2433-499insTACACACACACACACACACACACACACA CACACACACACATATACATACACACACACACACACATATATATACACACA CATATATATATACACACACACACACAT		RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	20/20						chr7	TogoVar
RTP5_chr2_241864729_241878823	241875099	G G	GGGGCCGA others(98): Show GGGGCCGAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAATCCAGGTC TCAGGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAATCCAG GTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG02145.hp2 others(8): Show HG01109.hp2 HG02109.hp2 HG02145.hp2 HG02559.hp1 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG03130.hp1 HG03195.hp2 NA18522.hp2 NA18906.hp2	a0005 a0006 a0005 a0006	a0005c0005 a0006c0006 a0005c0005 a0006c0006	a0005c0005t0005 a0005c0005t0022 a0006c0006t0007 a0005c0005t0005 a0005c0005t0022 a0006c0006t0007	a0005c0005t0005g0005 a0005c0005t0022g0005 a0006c0006t0007g0009 a0005c0005t0005g0005 a0005c0005t0022g0005 a0006c0006t0007g0009	11	365	0.0301	105	c.18 others(116): Show c.1825_*1826insGGGCCGAAATGCAGGGACGGGGGTCCCAGGAGAA ACCCCAATCCAGGTCTCAGGGGCCAAAATGCAGGGACGGGGGTCCCAGGA GAAACCCCAATCCAGGTCTCA		RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding					1277		chr2	TogoVar
RTP5_chr2_241864729_241878823	241875099	G G	GGGGCCGA others(98): Show GGGGCCGAAATGCAGGGACGGGGGTCCTAGGAGAAACCCCAATCCAGGTC TCAGGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAATCCAG GTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG02922.hp1 NA18959.hp1 others(3): Show HG01168.hp1 HG02922.hp1 NA18959.hp1 NA18969.hp1 NA19003.hp1 NA19085.hp1	a0001 a0003 a0027 a0001 a0003 a0027	a0001c0001 a0003c0003 a0027c0021 a0001c0001 a0003c0003 a0027c0021	a0001c0001t0002 a0001c0001t0009 a0003c0003t0002 others(1): Show a0001c0001t0002 a0001c0001t0009 a0003c0003t0002 a0027c0021t0021	a0001c0001t0002g0001 a0001c0001t0009g0001 a0003c0003t0002g0001 others(1): Show a0001c0001t0002g0001 a0001c0001t0009g0001 a0003c0003t0002g0001 a0027c0021t0021g0001	6	365	0.0164	105	c.18 others(116): Show c.1825_*1826insGGGCCGAAATGCAGGGACGGGGGTCCTAGGAGAA ACCCCAATCCAGGTCTCAGGGGCCAAAATGCAGGGACGGGGGTCCCAGGA GAAACCCCAATCCAGGTCTCA		RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding					1277		chr2	TogoVar
RTP5_chr2_241864729_241878823	241876393	A A	ATCCCAGG others(98): Show ATCCCAGGGAAACCCCAATCCAGGTCTCAGGGGCCCAACGGCAGGGACGA GGATCCCAGGAGAAACCTCAGTCCAGGTCTCAGGGGCCCAACTGCAGGGA CGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0037 a0002c0002t0037	a0002c0002t0037g0002 a0002c0002t0037g0002	1	365	0.0027	105	c.31 others(116): Show c.3119_*3120insTCCCAGGGAAACCCCAATCCAGGTCTCAGGGGCC CAACGGCAGGGACGAGGATCCCAGGAGAAACCTCAGTCCAGGTCTCAGGG GCCCAACTGCAGGGACGAGGG		RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding					2571		chr2	TogoVar
RUNDC3B_chr7_87623398_87837296	87626659	G G	GTGTCATA others(98): Show GTGTCATATATGTGTCATATATATGTGTCATATATGTGTCATATATATGT GTCATATATGTGTCATATATATGTGTCATATATGTGTCATATATATGTGT CATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0170 a0001c0001t0017g0170	1	202	0.0050	105	c.-21 others(116): Show c.-2165_-2164insTGTCATATATGTGTCATATATATGTGTCATATAT GTGTCATATATATGTGTCATATATGTGTCATATATATGTGTCATATATGT GTCATATATATGTGTCATATA		RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding					1738		chr7	TogoVar
SARDH_chr9_133658560_133743352	133668542	T T	TCCCTCAC others(98): Show TCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCT CCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTC CATCTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02683.hp2 HG02280.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0247 a0001c0001t0002g0061 a0001c0001t0002g0247	2	262	0.0076	105	c.249 others(124): Show c.2496-1673_2496-1672insGAGATGGAGGGTGAGGGGAGATGGAG GGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGGGAGGGTAAGGGGAGA GGGAGGGTGAGGGAGAGGGAGGGTGAGGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SCGB1C2_chr17_132569_144067	139304	C C	CCCCACAG others(98): Show CCCCACAGAGGGGCACACAAGTGGGGACATCAGGAACACAGGGCCACAGC CACACACACAGACCCACACACAGAGGATCCCACTCAAGGAGCACACGTGC GAAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	402	0.0025	105	c.36 others(114): Show c.362_*363insCCCACAGAGGGGCACACAAGTGGGGACATCAGGAAC ACAGGGCCACAGCCACACACACAGACCCACACACAGAGGATCCCACTCAA GGAGCACACGTGCGAAAGT		SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding					238		chr17	TogoVar
SCLT1_chr4_128878993_129098539	129034716	A A	AATAAATA others(98): Show AATAAATATTATTTATTATTTATTTATTTATTTATTTTATTTTAGTGTAG CTATATTTAAATTAATACATGCTGTTCCTTAAAATTACATAGCACACCCA CGGAAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0033 a0006c0012t0001g0033	1	288	0.0035	105	c.290 others(122): Show c.290+4324_290+4325insATTCCGTGGGTGTGCTATGTAATTTTAA GGAACAGCATGTATTAATTTAAATATAGCTACACTAAAATAAAATAAATA AATAAATAAATAATAAATAATATTTAT		SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	5/20						chr4	TogoVar
SDF2L1_chr22_21637302_21649299	21646678	T T	TGAAAGTC others(98): Show TGAAAGTCTCAATGAGAGCTTGCAGTGAGCCGAGATCCCGCCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0008 a0003c0004t0001g0008	1	430	0.0023	105	c.25 others(116): Show c.2503_*2504insGAAAGTCTCAATGAGAGCTTGCAGTGAGCCGAGA TCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA		SDF2L1	ENSG00000128228.5	transcript	ENST00000248958.5	protein_coding					2380		chr22	TogoVar
SEL1L2_chr20_13844247_13995614	13848555	G G	GAGAAGAA others(98): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAA GAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGA AGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0246 a0002c0002t0003g0246	1	324	0.0031	105	c.92 others(114): Show c.929_*930insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCC TCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCT		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding					691		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848606	A A	AAGAAGAA others(98): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	324	0.0031	105	c.87 others(114): Show c.878_*879insCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCT		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding					640		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848619	A A	AGAAGAAG others(98): Show AGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	324	0.0031	105	c.86 others(114): Show c.865_*866insCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCCTCTTCCTCTTCCTCTT CCTCTTCCTCTTCTTCTTC		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding					627		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848619	A A	AGAGGAAG others(98): Show AGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	324	0.0031	105	c.86 others(114): Show c.865_*866insCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCCTCTTCCT CTTCCTCTTCCTCTTCCTC		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding					627		chr20	TogoVar
SGIP1_chr1_66529153_66756139	66630841	A A	AAGAAAGA others(98): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGA GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0129 a0002c0003t0005g0129	1	302	0.0033	105	c.75- others(120): Show c.75-2202_75-2201insGAGAGAGAGAGAGAGAGAGAGAGAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG AAAGAAAGAAAGAAAGAAAGAAAGA		SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr1	TogoVar
SHC2_chr19_411589_466033	458609	C C	CGGGGAGG others(98): Show CGGGGAGGCGGACGCGGGTTCCGCGGAGGCGGAAGCCGGTCTTGGGGAGG CGGAAGTGGGTTCCGGGGAGGGGGAAGCGGGTTCCGGGGAGGCGGAAGCG GGTCTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp2 HG02818.hp2 others(3): Show HG01891.hp1 HG02622.hp2 HG02818.hp2 HG02970.hp2 HG02976.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0001c0013	a0001c0001t0005 a0001c0001t0007 a0001c0005t0015 others(2): Show a0001c0001t0005 a0001c0001t0007 a0001c0005t0015 a0001c0007t0003 a0001c0013t0005	a0001c0001t0005g0028 a0001c0001t0005g0031 a0001c0001t0007g0041 others(3): Show a0001c0001t0005g0028 a0001c0001t0005g0031 a0001c0001t0007g0041 a0001c0005t0015g0008 a0001c0007t0003g0030 a0001c0013t0005g0007	6	212	0.0283	105	c.468 others(122): Show c.468+1919_468+1920insAAGACCCGCTTCCGCCTCCCCGGAACCC GCTTCCCCCTCCCCGGAACCCACTTCCGCCTCCCCAAGACCGGCTTCCGC CTCCGCGGAACCCGCGTCCGCCTCCCC		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12						chr19	TogoVar
SHC2_chr19_411589_466033	458613	G G	GAGGCGGA others(98): Show GAGGCGGACGCGGGTTCCGCGGAGGCGGAAGCCGGTCTTGGGGAGGCGGA AGTGGGTTCCGGGGAGGGGGAAGCGGGTTCCGGGGAGGCGGAAGCGGGTC TTGGGA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0009 a0001c0005t0006g0009	1	212	0.0047	105	c.468 others(122): Show c.468+1915_468+1916insTCCCAAGACCCGCTTCCGCCTCCCCGGA ACCCGCTTCCCCCTCCCCGGAACCCACTTCCGCCTCCCCAAGACCGGCTT CCGCCTCCGCGGAACCCGCGTCCGCCT		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12						chr19	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(98): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGGAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	256	0.0039	105	c.165 others(122): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGGAAA		SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC12A7_chr5_1045384_1117063	1070822	C C	CAGCCCCA others(98): Show CAGCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTA TGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCC CCAGTG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0037 a0002c0004t0001g0037	1	118	0.0085	105	c.224 others(124): Show c.2241+2810_2241+2811insCACTGGGGGCTGCATAAGTGTGATGC CCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGC TGGGGGCTCACTGGGGGCTCACTGGGGCT		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC1A5_chr19_46769883_46793594	46791988	T T	TCACACAC others(98): Show TCACACACACACACACACACACACACACACACACACACACACACACACAC AAATCCTTGGCTGCTAGAGCGTGCATTCTAGTGCGGAAGAGACAAGACAA TAAACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0008 a0001c0014t0008	a0001c0014t0008g0085 a0001c0014t0008g0085	1	428	0.0023	105	c.-40 others(116): Show c.-4024_-4023insTGTTTATTGTCTTGTCTCTTCCGCACTAGAATGC ACGCTCTAGCAGCCAAGGATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTG		SLC1A5	ENSG00000105281.12	transcript	ENST00000542575.6	protein_coding					3395		chr19	TogoVar

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