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
RIOK2_chr5_97155867_97188247	97180120	G G	GTATATGT others(43): Show GTATATGTATATATATATATACATGTATATATATATATATGTATATATAT A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0031 a0003c0003t0031	a0003c0003t0031g0106 a0003c0003t0031g0106	1	407	0.0025	50	c.67- others(63): Show c.67-928_67-927insTATATATATACATATATATATATATACATGTA TATATATATATACATATA	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(43): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTCTTCTTCTTCTTCTTCT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG06807.hp2 HG02647.hp1 HG06807.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0037 a0001c0002 a0008c0037	a0001c0002t0004 a0008c0037t0004 a0001c0002t0004 a0008c0037t0004	a0001c0002t0004g0021 a0008c0037t0004g0102 a0001c0002t0004g0021 a0008c0037t0004g0102	2	256	0.0078	50	c.48 others(61): Show c.4815_*4816insAAGAAGAAGAAGAAGAAGAAAAGAAGAAGAAGAA GAAGAAGAAGAAGAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RNF141_chr11_10506673_10546187	10539687	C C	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0050 a0001c0001t0006g0050	1	355	0.0028	50	c.-48 others(67): Show c.-48+1434_-48+1435insATATATATATATATATATATATATATAT ATATATATATATATATATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF150_chr4_140854807_141138469	140999985	A A	AGGAAGAA others(43): Show AGGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGAGGAGGA G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0083 a0001c0001t0050g0083	1	128	0.0078	50	c.485 others(69): Show c.485-32113_485-32112insCTCCTCCTCCTCCTCCTCCTCCTTCT TCTTCTTCTTCTTCTTCTTCTTCC	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
RNF152_chr18_61803067_61898007	61844077	G G	GGAAAGAA others(43): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAA A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0230 a0001c0002t0005g0230	1	121	0.0083	50	c.-13 others(71): Show c.-135-27480_-135-27479insTTTCTTTCTTTCTTTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTC	RNF152	ENSG00000176641.11	transcript	ENST00000312828.4	protein_coding	1/1			chr18	TogoVar
RNF152_chr18_61803067_61898007	61844077	G G	GGAAAGAA others(43): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAA A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0207 a0001c0002t0005g0207	1	121	0.0083	50	c.-13 others(71): Show c.-135-27480_-135-27479insTTTCTTTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTC	RNF152	ENSG00000176641.11	transcript	ENST00000312828.4	protein_coding	1/1			chr18	TogoVar
RNF17_chr13_24759169_24884921	24881838	A A	ATATATAG others(43): Show ATATATAGATACATCTATATAGATACATCTATATAGATATATAGATACAT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 NA18985.hp1 HG02273.hp1 NA18985.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0004 a0002c0003 a0004c0004	a0002c0003t0002 a0004c0004t0002 a0002c0003t0002 a0004c0004t0002	a0002c0003t0002g0363 a0004c0004t0002g0131 a0002c0003t0002g0363 a0004c0004t0002g0131	2	378	0.0053	50	c.21 others(61): Show c.2112_*2113insTATATAGATACATCTATATAGATACATCTATATA GATATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1918		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882257	T T	TAGATAGA others(43): Show TAGATAGATATATAGATACATCTATATAGATATATAGATACATCTATATA G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG01081.hp1 others(5): Show HG00140.hp2 HG00280.hp2 HG01081.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp2 NA20805.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0326 a0002c0003t0001g0339 a0002c0003t0001g0348 others(5): Show a0002c0003t0001g0326 a0002c0003t0001g0339 a0002c0003t0001g0348 a0002c0003t0001g0349 a0002c0003t0001g0351 a0002c0003t0001g0352 a0002c0003t0001g0393 a0002c0003t0001g0394	8	384	0.0208	50	c.25 others(61): Show c.2531_*2532insAGATAGATATATAGATACATCTATATAGATATAT AGATACATCTATATAG	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2337		chr13	TogoVar
RNF212B_chr14_23232936_23278477	23273908	T T	TTTTACAG others(43): Show TTTTACAGTTTTTGTTCTTTTAATTTACCTCAATAAGTCCTGCCCCTCCA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	366	0.0027	50	c.10 others(61): Show c.1017_*1018insTTTACAGTTTTTGTTCTTTTAATTTACCTCAATA AGTCCTGCCCCTCCAA	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding		432		chr14	TogoVar
RNF212B_chr14_23232936_23278477	23275531	G G	GGTTCATC others(43): Show GGTTCATCTTTCAGTAACAGACCTCCCCTCCCCCAGCTCCCCACTCAGTC T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	366	0.0027	50	c.26 others(61): Show c.2640_*2641insGTTCATCTTTCAGTAACAGACCTCCCCTCCCCCA GCTCCCCACTCAGTCT	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding		2055		chr14	TogoVar
RNFT2_chr12_116733315_116858631	116797872	C C	CTTTTGGG others(43): Show CTTTTGGGTCACTGGGTGATGGTCATGGAAAGCGGTGGTAACTCCTGGGT G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0023 a0001c0011t0023	a0001c0011t0023g0007 a0001c0011t0023g0007	1	266	0.0038	50	c.882 others(69): Show c.882+18573_882+18574insGTTTTGGGTCACTGGGTGATGGTCAT GGAAAGCGGTGGTAACTCCTGGGT	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNGTT_chr6_88604897_88968618	88697956	T T	TATATATA others(43): Show TATATATATGAAATACATATATATGATATATATATATGAAATACATATAT G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	215	0.0047	50	c.144 others(71): Show c.1440-19538_1440-19537insCATATATGTATTTCATATATATAT ATCATATATATGTATTTCATATATAT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88697999	C C	CATATATG others(43): Show CATATATGATATATATATGAAATACATATATGATATATATATGAAATACA T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp2 HG03017.hp1 others(1): Show HG00140.hp2 HG00609.hp2 HG03017.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0059 a0001c0001t0001g0100 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0059 a0001c0001t0001g0100 a0001c0001t0001g0101	4	91	0.0440	50	c.144 others(71): Show c.1440-19581_1440-19580insATGTATTTCATATATATATCATAT ATGTATTTCATATATATATCATATAT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
ROBO1_chr3_78592239_79772998	79550195	G G	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAAGAAA A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	11	0.0909	50	c.88+ others(67): Show c.88+39628_88+39629insTTTTCTTTTCTTTCTTTCCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77108251	C C	CATATATA others(43): Show CATATATATGTATACACATATGCATATATATATGTATACACATATGCATA T	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	125	0.0080	50	c.388 others(67): Show c.388+9943_388+9944insGTATACACATATGCATATATATATATGT ATACACATATGCATATATATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK1_chr18_20941906_21116813	20958922	T T	TATATATA others(43): Show TATATATATATTATATAAAAAATAATATATATATTTTATATAATATATAT A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03098.hp1 HG02647.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0186 a0001c0001t0016g0187 a0001c0001t0016g0186 a0001c0001t0016g0187	2	210	0.0095	50	c.351 others(67): Show c.3512+868_3512+917dupTATATATATTATATAAAATATATATATT ATTTTTTATATAATATATATAT	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROCK1_chr18_20941906_21116813	20958934	A A	ATATAAAA others(43): Show ATATAAAAAATAATATATATATTTTATATAATATATATAATATATATATT T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0125 a0001c0001t0022g0125	1	163	0.0061	50	c.351 others(67): Show c.3512+856_3512+905dupAAATATATATATTATATATATTATATAA AATATATATATTATTTTTTATA	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROCK1_chr18_20941906_21116813	20958981	A A	ATTTTATA others(43): Show ATTTTATAAAAAATAATATATATATTTTATATAATATATATAATATATAT T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03139.hp2 HG03195.hp2 others(2): Show HG01243.hp2 HG03139.hp2 HG03195.hp2 HG03579.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 others(2): Show a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192	5	209	0.0239	50	c.351 others(67): Show c.3512+858_3512+859insAATATATATTATATATATTATATAAAAT ATATATATTATTTTTTATAAAA	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROR1_chr1_63769017_64186498	64014713	C C	CTATATAT others(43): Show CTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0092 a0001c0005t0002g0092	1	69	0.0145	50	c.163 others(67): Show c.163+5351_163+5352insTATATATATATATATATATATATATATA TATATATATATATATATATATA	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
RORA_chr15_60483284_61234302	60515957	T T	TTATATAT others(43): Show TTATATATATTTATATATTTATATATATTTATATATATTTATATATTTAT A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0056 a0001c0001t0034g0056	1	63	0.0159	50	c.283 others(67): Show c.283-1201_283-1200insTATAAATATATAAATATATATAAATATA TATAAATATATAAATATATATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60516149	A A	AAATATAT others(43): Show AAATATATATATTTATATATATATTTATATATATATTTAAATATATATAT T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp1 HG02257.hp1 HG02559.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0005 a0001c0004t0008g0095 a0001c0004t0008g0005 a0001c0004t0008g0095	2	111	0.0180	50	c.283 others(67): Show c.283-1393_283-1392insAATATATATATTTAAATATATATATAAA TATATATATAAATATATATATT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61053848	G G	GATATATA others(43): Show GATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0006 a0001c0004t0019g0006	1	7	0.1429	50	c.166 others(71): Show c.166+175204_166+175205insATATATATATATATATATATATAT ATATATATATATATATATATATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPA2_chr1_27886524_27919575	27916908	C C	CCCTCCCT others(43): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCTTCCTCCTTCCT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	362	0.0028	50	c.-24 others(61): Show c.-2466_-2465insAAGGAAGGAGGAAGGAGGAAGGAAGGGAGGGAGG GAGGGAGGGAGGGAGG	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2334		chr1	TogoVar
RPA3_chr7_7631518_7723607	7678697	T T	TATATATT others(43): Show TATATATTTATATATTTAGTTTATAAATATATTTATATATTTAGTTTATA A	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19240.hp1 HG02055.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0233 a0001c0001t0002g0234	2	302	0.0066	50	c.-75 others(69): Show c.-758+7132_-758+7133insTTATAAACTAAATATATAAATATATT TATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7678699	T T	TATATTTA others(43): Show TATATTTATATATTTAGTTTATAAATATATATTTATGTATTTAGTTTATA A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	304	0.0033	50	c.-75 others(69): Show c.-758+7130_-758+7131insTTATAAACTAAATACATAAATATATA TTTATAAACTAAATATATAAATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	235251	A A	AGGGTTCA others(43): Show AGGGTTCAAAGCTGGGGTCGGGGGAGGCTCTGCACTAACAAGACGGATCC C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0070 a0001c0001t0017g0070	1	113	0.0088	50	c.613 others(69): Show c.613+11859_613+11860insGGGATCCGTCTTGTTAGTGCAGAGCC TCCCCCGACCCCAGCTTTGAACCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	235445	G G	GGGTCCCG others(43): Show GGGTCCCGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCACACTAACAAGAC A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0070 a0001c0001t0017g0070	1	132	0.0076	50	c.613 others(69): Show c.613+11665_613+11666insTGTCTTGTTAGTGTGGAGCCTCCGCC GACCCCAGCTTTGAACCCGGGACC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	235473	C C	CGAGGCTC others(43): Show CGAGGCTCTACACTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGTCGGC G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02723.hp1 HG01243.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0027 a0001c0001t0022 a0001c0001t0027	a0001c0001t0022g0071 a0001c0001t0027g0118 a0001c0001t0022g0071 a0001c0001t0027g0118	2	109	0.0183	50	c.613 others(69): Show c.613+11637_613+11638insCGCCGACCCCAGCTTTGAACCCGGGA CCCGTCTTGTTAGTGTAGAGCCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	235744	C C	CGGATCCC others(43): Show CGGATCCCGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCACACTAACAAGA T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp1 HG01361.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0001 a0001c0002t0001g0002	2	128	0.0156	50	c.613 others(69): Show c.613+11366_613+11367insATCTTGTTAGTGTGGAGCCTCCGCCG ACCCCAGCTTTGAACCCGGGATCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	287797	T T	TCTCTCCA others(43): Show TCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGCAC C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	126	0.0079	50	c.352 others(67): Show c.352-5944_352-5943insGGTGCGAGGTCTGACGGTGGAGAGAGGG TGCGAGGTCTGACGGTGGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288431	T T	TCTCTCCA others(43): Show TCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCGCAC C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	126	0.0079	50	c.352 others(67): Show c.352-6578_352-6577insGGTGCGAGGTCTGACGGTGGAGAGAGGG AGTGAGGTCTGACGGTGGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288431	T T	TCTCTCCA others(43): Show TCTCTCCACCGTCAGACCTCGCACGCTCTCTCCACCGTCAGACCTCGCAC C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	126	0.0079	50	c.352 others(67): Show c.352-6578_352-6577insGGTGCGAGGTCTGACGGTGGAGAGAGCG TGCGAGGTCTGACGGTGGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288511	T T	TCTCTCCA others(43): Show TCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCACTC C	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18947.hp1 NA19005.hp1 HG02976.hp1 NA18947.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0024 a0001c0001t0025 a0001c0001t0005 a0001c0001t0024 a0001c0001t0025	a0001c0001t0005g0017 a0001c0001t0024g0082 a0001c0001t0025g0076 a0001c0001t0005g0017 a0001c0001t0024g0082 a0001c0001t0025g0076	3	124	0.0242	50	c.352 others(67): Show c.352-6658_352-6657insGGAGTGAGGTCTGACGGTGGAGAGAGGG TGCGAGGTCTGACGGTGGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288649	T T	TCTCTCCA others(43): Show TCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCACTC C	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0082 a0001c0001t0024g0082	1	115	0.0087	50	c.352 others(67): Show c.352-6796_352-6795insGGAGTGAGGTCTGACGGTGGAGAGAGGG AGTGAGGTCTGACGGTGGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288677	T T	TCTCTCCA others(43): Show TCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCACTC C	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18947.hp1 NA19056.hp2 HG02976.hp1 NA18947.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0025 a0001c0001t0004 a0001c0001t0005 a0001c0001t0025	a0001c0001t0004g0021 a0001c0001t0005g0017 a0001c0001t0025g0076 a0001c0001t0004g0021 a0001c0001t0005g0017 a0001c0001t0025g0076	3	113	0.0265	50	c.352 others(67): Show c.352-6824_352-6823insGGAGTGAGGTCTGACGGTGGAGAGAGGG AGTGAGGTCTGACGGTGGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	319946	G G	GGAGGGAG others(43): Show GGAGGGAGGGGGAGGGAGATTGAGGGGAGGGAGGGGGAGGGAGACTGAGG A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00099.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0114 a0001c0001t0016g0093 a0001c0001t0001g0114 a0001c0001t0016g0093	2	123	0.0163	50	c.222 others(65): Show c.222-398_222-397insTCCTCAGTCTCCCTCCCCCTCCCTCCCCTC AATCTCCCTCCCCCTCCCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(43): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18978.hp1 NA19082.hp2 NA18978.hp1 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0182 a0001c0002t0183 a0001c0002t0182 a0001c0002t0183	a0001c0002t0182g0105 a0001c0002t0183g0167 a0001c0002t0182g0105 a0001c0002t0183g0167	2	8	0.2500	50	c.-24 others(59): Show c.-247_-246insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36413	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPL18A_chr19_17854910_17868319	17867815	T T	TTTTCTTA others(43): Show TTTTCTTATGCTGCCTTAGTTTTCTCTTATCATGTTTTTCTGTAGTTCTT G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	50	c.45 others(61): Show c.4552_*4553insTTTCTTATGCTGCCTTAGTTTTCTCTTATCATGT TTTTCTGTAGTTCTTG	RPL18A	ENSG00000105640.13	transcript	ENST00000222247.10	protein_coding		4497		chr19	TogoVar
RPL26_chr17_8372516_8388193	8374937	C C	CAAAAAAA others(43): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	62	0.0161	50	c.26 others(61): Show c.2626_*2627insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		2578		chr17	TogoVar
RPL38_chr17_74198678_74215655	74199262	G G	GAGAGAGA others(43): Show GAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG03209.hp2 HG01496.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0018 a0001c0001t0004 a0001c0001t0018	a0001c0001t0004g0002 a0001c0001t0018g0072 a0001c0001t0004g0002 a0001c0001t0018g0072	2	371	0.0054	50	c.-45 others(61): Show c.-4522_-4521insAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAA	RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding		4415		chr17	TogoVar
RPL38_chr17_74198678_74215655	74199262	G G	GAGAGAGA others(43): Show GAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0047 a0001c0001t0010g0047	1	370	0.0027	50	c.-45 others(61): Show c.-4522_-4521insAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAA	RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding		4415		chr17	TogoVar
RPL5_chr1_92827040_92846924	92846848	T T	TATATACA others(43): Show TATATACACACACGTATATATATATATACACACACGTATATATATATATA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0041 a0001c0003t0001g0041	1	93	0.0108	50	c.49 others(61): Show c.4983_*4984insATATACACACACGTATATATATATATACACACAC GTATATATATATATAC	RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding		4925		chr1	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(43): Show GTGTGTATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02080.hp1 NA19074.hp1 HG01361.hp1 HG02080.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0081 a0001c0001t0004g0213 a0001c0001t0004g0218 a0001c0001t0001g0081 a0001c0001t0004g0213 a0001c0001t0004g0218	3	10	0.3000	50	c.790 others(69): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATATATATATATATACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(43): Show GTGTGTGTATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG04204.hp1 NA18946.hp2 HG03831.hp2 HG04204.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0001 a0001c0001t0004 a0001c0001t0012	a0001c0001t0001g0201 a0001c0001t0004g0151 a0001c0001t0012g0082 a0001c0001t0001g0201 a0001c0001t0004g0151 a0001c0001t0012g0082	3	10	0.3000	50	c.790 others(69): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATATATATATATACACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(43): Show GTGTGTGTGTATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	8	0.1250	50	c.790 others(69): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATATATATATACACACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(43): Show GTGTGTGTGTGTGTGTATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	8	0.1250	50	c.790 others(69): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATATACACACACACACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPTOR_chr17_80539838_80971368	80864276	C C	CGGCAGGT others(43): Show CGGCAGGTTTCTTCTTACAGATTTCCTACAGATGGAAAAGGTGAGAGTGA T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02717.hp2 NA18944.hp2 HG02683.hp1 HG02717.hp2 NA18944.hp2	a0001 a0001	a0001c0033 a0001c0035 a0001c0087 a0001c0033 a0001c0035 a0001c0087	a0001c0033t0023 a0001c0035t0010 a0001c0087t0002 a0001c0033t0023 a0001c0035t0010 a0001c0087t0002	a0001c0033t0023g0078 a0001c0035t0010g0062 a0001c0087t0002g0050 a0001c0033t0023g0078 a0001c0035t0010g0062 a0001c0087t0002g0050	3	186	0.0161	50	c.150 others(69): Show c.1509+6425_1509+6426insTGGCAGGTTTCTTCTTACAGATTTCC TACAGATGGAAAAGGTGAGAGTGA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80864281	G G	GGTTTCTT others(43): Show GGTTTCTTCTTACAGATTTCCTACAGATGGAAAAGGTGAGAGTGATGGCA A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0060 a0001c0051t0060	a0001c0051t0060g0115 a0001c0051t0060g0115	1	194	0.0052	50	c.150 others(69): Show c.1509+6425_1509+6426insTGGCAAGTTTCTTCTTACAGATTTCC TACAGATGGAAAAGGTGAGAGTGA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80864321	A A	AGTGATGG others(43): Show AGTGATGGCAAGTTTCTTCTCACAGATTTCCTACAGATGGAAAAGGTGAG C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp1 HG03130.hp1 others(1): Show HG02630.hp1 HG02723.hp1 HG03130.hp1 HG06807.hp2	a0001 a0001	a0001c0011 a0001c0020 a0001c0064 a0001c0011 a0001c0020 a0001c0064	a0001c0011t0024 a0001c0011t0062 a0001c0020t0064 others(1): Show a0001c0011t0024 a0001c0011t0062 a0001c0020t0064 a0001c0064t0005	a0001c0011t0024g0148 a0001c0011t0062g0114 a0001c0020t0064g0193 others(1): Show a0001c0011t0024g0148 a0001c0011t0062g0114 a0001c0020t0064g0193 a0001c0064t0005g0074	4	190	0.0211	50	c.150 others(69): Show c.1509+6425_1509+6426insTGGCAAGTTTCTTCTCACAGATTTCC TACAGATGGAAAAGGTGAGCGTGA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80864321	A A	AGTGATGG others(43): Show AGTGATGGCAGGTTTCTTCTCACAGATTTCCTACAGATGGAAAAGGTGAG C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02976.hp2 HG02717.hp1 HG02976.hp2	a0001 a0001	a0001c0044 a0001c0065 a0001c0044 a0001c0065	a0001c0044t0045 a0001c0065t0006 a0001c0044t0045 a0001c0065t0006	a0001c0044t0045g0083 a0001c0065t0006g0104 a0001c0044t0045g0083 a0001c0065t0006g0104	2	188	0.0106	50	c.150 others(69): Show c.1509+6425_1509+6426insTGGCAGGTTTCTTCTCACAGATTTCC TACAGATGGAAAAGGTGAGCGTGA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar

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