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
RGS7_chr1_240770514_241362205	241259667	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	23	0.0435	51	c.78+ others(68): Show c.78+96031_78+96032insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTTTTT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RHBDF1_chr16_53059_77631	72598	C C	CGCCCGCC others(44): Show CGCCCGCCCGCCGGTCCGGCCCGCCCGCCGGTCCGGCCCGCCCGCCGGTC CG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0052 a0001c0001t0006g0052	1	368	0.0027	51	c.-11 others(60): Show c.-111_-110insCGGACCGGCGGGCGGGCCGGACCGGCGGGCGGGCCG GACCGGCGGGCGGGC	RHBDF1	ENSG00000007384.15	transcript	ENST00000262316.10	protein_coding	1/18	7584		chr16	TogoVar
RICTOR_chr5_38932920_39079399	38990704	G G	GATATATA others(44): Show GATATATATATCTGATATATATCATATCTGATATATATCATATATATCAT AT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0026 a0001c0001t0038g0026	1	306	0.0033	51	c.583 others(66): Show c.583+244_583+245insATATGATATATATGATATATATCAGATATG ATATATATCAGATATATATAT	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding	7/37			chr5	TogoVar
RICTOR_chr5_38932920_39079399	38990708	T T	TATATATC others(44): Show TATATATCTGATATATATCATATCTGATATATATCATATATATGATATAT CA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp1 HG03516.hp1 HG02559.hp1 HG02647.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0025 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0025	3	272	0.0110	51	c.583 others(66): Show c.583+240_583+241insTGATATATCATATATATGATATATATCAGA TATGATATATATCAGATATAT	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding	7/37			chr5	TogoVar
RIMBP2_chr12_130391133_130721299	130574969	G G	GCCACCCC others(44): Show GCCACCCCCCACCCCCAGACGCCCTGTGCCAAGTCCTCCAGAATCACACC CC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0170 a0001c0024t0001g0170	1	158	0.0063	51	c.-21 others(72): Show c.-217+53352_-217+53353insGGGGTGTGATTCTGGAGGACTTGG CACAGGGCGTCTGGGGGTGGGGGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar
RIMS1_chr6_71881550_72408145	72356574	C C	CAGTAGTA others(44): Show CAGTAGTAGATGAAACCCCATCTCTACTAAACCCCATCTCTACTAAATGT AG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0018 a0002c0018t0018	a0002c0018t0018g0105 a0002c0018t0018g0105	1	138	0.0072	51	c.436 others(72): Show c.4366+22740_4366+22741insGTAGTAGATGAAACCCCATCTCTA CTAAACCCCATCTCTACTAAATGTAGA	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	29/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPOR2_chr6_24799284_24940960	24927097	C C	CATCACTA others(44): Show CATCACTACCACCAGCACCACTACAACTACAATCACCACCATCACCATCA CT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA20129.hp1 NA19030.hp1 NA20129.hp1	a0001 a0020 a0001 a0020	a0001c0001 a0020c0023 a0001c0001 a0020c0023	a0001c0001t0012 a0020c0023t0018 a0001c0001t0012 a0020c0023t0018	a0001c0001t0012g0108 a0020c0023t0018g0222 a0001c0001t0012g0108 a0020c0023t0018g0222	2	230	0.0087	51	c.61+ others(66): Show c.61+8740_61+8741insAGTGATGGTGATGGTGGTGATTGTAGTTGT AGTGGTGCTGGTGGTAGTGAT	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RIT2_chr18_42738227_43120685	42743915	C C	CGCCTTAA others(44): Show CGCCTTAACTGATTACATTCCACCACAAAAGAAGTGTAAATGGCAGGTCC TT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	238	0.0042	51	c.427 others(66): Show c.427-246_427-196dupAAGGACCTGCCATTTACACTTCTTTTGTGG TGGAATGTAATCAGTTAAGGC	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	4/4			chr18	TogoVar
RLF_chr1_40156387_40245921	40200919	C C	CACACACA others(44): Show CACACACACACACACACAGTGGTTTATCCTTAGTATAAACCATTGCTACT CT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0328 a0003c0003t0001g0328	1	320	0.0031	51	c.608 others(68): Show c.608-1476_608-1475insGTGGTTTATCCTTAGTATAAACCATTGC TACTCTACACACACACACACACA	RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF141_chr11_10506673_10546187	10539701	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATATGAGAGAGA AG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0199 a0001c0002t0001g0199	1	137	0.0073	51	c.-48 others(68): Show c.-48+1420_-48+1421insCTTCTCTCTCATATATATATATATATAT ATATATATATATATATATATATA	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF150_chr4_140854807_141138469	140935032	A A	AATATATA others(44): Show AATATATATATATATAAATATATATATTATATATATATAATATATATATA AT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0030 a0001c0001t0012g0030	1	178	0.0056	51	c.891 others(68): Show c.891-8960_891-8959insATTATATATATATTATATATATATAATA TATATATTTATATATATATATAT	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	4/6			chr4	TogoVar
RNF152_chr18_61803067_61898007	61844077	G G	GGAAAGAA others(44): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGA AA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0205 a0001c0002t0049g0205	1	121	0.0083	51	c.-13 others(72): Show c.-135-27480_-135-27479insTTTCTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTC	RNF152	ENSG00000176641.11	transcript	ENST00000312828.4	protein_coding	1/1			chr18	TogoVar
RNF213_chr17_80255852_80403794	80260636	G G	GGCGGCGG others(44): Show GGCGGCGGCGGGCAGGGCGGGGCCAGCGGCGGCGGCGGGCAGGGCGGGGC CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0075 a0075	a0075c0048 a0075c0048	a0075c0048t0051 a0075c0048t0051	a0075c0048t0051g0245 a0075c0048t0051g0245	1	262	0.0038	51	c.-37 others(60): Show c.-375_-374insGCGGCGGCGGGCAGGGCGGGGCCAGCGGCGGCGGCG GGCAGGGCGGGGCCA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding		215		chr17	TogoVar
RNF213_chr17_80255852_80403794	80313758	G G	GTGGTGGA others(44): Show GTGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGTGGTGGTGGAGGT GA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0114 a0002c0002t0004g0114	1	285	0.0035	51	c.281 others(68): Show c.2811+623_2811+624insGTGGTGGTGGTGGAGGTGATGGTGGAGG TACTGGAGGTGATGGTGGTGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNGTT_chr6_88604897_88968618	88948003	T T	TGGGGGGG others(44): Show TGGGGGGGTTGGCCCCCCGCCCCGGCCAGCCGCCCCATCCGGGAGGGAGG TG	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	186	0.0054	51	c.65- others(66): Show c.65-6824_65-6823insCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGGCGGGGGGCCAACCCCCCC	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	1/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88948053	T T	TGGGGGGG others(44): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	177	0.0056	51	c.65- others(66): Show c.65-6874_65-6873insCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCC	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	1/15			chr6	TogoVar
RNPC3_chr1_103520699_103560239	103525497	G G	GCCGCCGT others(44): Show GCCGCCGTGCGCCCCGCCCCGCCGTGCGCCCCGCCCCGCCGTGCGCCCCG CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00621.hp1 others(35): Show HG00140.hp1 HG00408.hp2 HG00621.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp1 HG01192.hp1 HG01515.hp1 HG01517.hp2 HG02145.hp1 HG02155.hp2 HG02300.hp1 HG02451.hp1 HG02683.hp1 HG02723.hp2 HG03017.hp1 HG03130.hp1 NA18952.hp1 NA18953.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18968.hp2 NA18994.hp1 NA19000.hp2 NA19003.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp2 NA19084.hp1 NA19240.hp1 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0016 a0001c0002t0001g0022 a0001c0002t0001g0031 a0001c0002t0001g0036 a0001c0002t0001g0084 a0001c0002t0001g0093 a0001c0002t0001g0102	38	118	0.3220	51	c.-57 others(60): Show c.-574_-573insCCGCCGTGCGCCCCGCCCCGCCGTGCGCCCCGCCCC GCCGTGCGCCCCGCC	RNPC3	ENSG00000185946.16	transcript	ENST00000423855.7	protein_coding		201		chr1	TogoVar
RPEL1_chr10_103240887_103253016	103251164	C C	CCACCACC others(44): Show CCACCACCATCACCACCACCACCATCACCACCATCACCACCAACACCACC AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	371	0.0027	51	c.44 others(62): Show c.4481_*4482insCACCACCATCACCACCACCACCATCACCACCATC ACCACCAACACCACCAT	RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding		3149		chr10	TogoVar
RPH3AL_chr17_207389_357807	242266	T T	TTACCTTC others(44): Show TTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTG AC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01167.hp2 HG01255.hp1 others(12): Show HG00408.hp2 HG01167.hp2 HG01255.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02698.hp2 HG02738.hp2 HG04184.hp2 NA18959.hp1 NA18963.hp1 NA18995.hp1 NA18995.hp2 NA19004.hp1 NA19005.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015 a0003c0005 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0013 a0001c0001t0032 a0001c0002t0003 a0001c0004t0001 a0001c0004t0026 a0001c0015t0007 a0003c0005t0005 a0003c0005t0023 a0005c0009t0001	a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0079 others(12): Show a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0079 a0001c0001t0001g0128 a0001c0001t0002g0029 a0001c0001t0009g0094 a0001c0001t0013g0055 a0001c0001t0032g0004 a0001c0002t0003g0033 a0001c0004t0001g0050 a0001c0004t0026g0013 a0001c0015t0007g0026 a0003c0005t0005g0035 a0003c0005t0023g0125 a0005c0009t0001g0054	15	123	0.1220	51	c.613 others(68): Show c.613+4844_613+4845insGTCAATAGAGGAAGGTAGTCAATAGAGG AAGGTAGTCAATAGAGGAAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242368	C C	CTACCTTC others(44): Show CTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTGTTG AT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0132 a0001c0001t0005g0132	1	119	0.0084	51	c.613 others(68): Show c.613+4742_613+4743insATCAACAGAGGAAGGTAGTCAATAGAGG AAGGTAGTCAATAGAGGAAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242919	C C	CCTTCCTC others(44): Show CCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGAT TA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0016 a0002c0011t0001g0016	1	102	0.0098	51	c.613 others(68): Show c.613+4191_613+4192insTAATCAATAGAGGAAGGGTAATCAATAG AGGAAGGTAATCAATAGAGGAAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	243091	C C	CCCTTCCT others(44): Show CCCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGAT TA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01192.hp2 HG00323.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0016 a0001c0003t0036 a0001c0001t0016 a0001c0003t0036	a0001c0001t0016g0081 a0001c0003t0036g0064 a0001c0001t0016g0081 a0001c0003t0036g0064	2	132	0.0152	51	c.613 others(68): Show c.613+4019_613+4020insTAATCAATAGAGGAAGGTAGTCAATAGA GGAAGGTAGTCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3A_chr12_112786748_112903881	112791864	A A	AGAGAGAG others(44): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0199 a0001c0001t0199	a0001c0001t0199g0141 a0001c0001t0199g0141	1	258	0.0039	51	c.-28 others(60): Show c.-288_-287insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAG	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36454		chr12	TogoVar
RPRD1A_chr18_35984824_36072559	36044742	C C	CATGAGGA others(44): Show CATGAGGAAATAATAAATAAATAAATAAATAAAAGCAGGAAAATAAATAA AT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02056.hp2 HG02135.hp1 HG00408.hp1 HG02056.hp2 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0050 a0001c0001t0007g0057 a0001c0001t0007g0058 a0001c0001t0007g0050 a0001c0001t0007g0057 a0001c0001t0007g0058	3	316	0.0095	51	c.152 others(70): Show c.152-10906_152-10905insATTTATTTATTTTCCTGCTTTTATTT ATTTATTTATTTATTATTTCCTCAT	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	1/6			chr18	TogoVar
RPTOR_chr17_80539838_80971368	80665488	C C	CTTTCCTT others(44): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCTTTC CT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0033 a0001c0032t0033	a0001c0032t0033g0039 a0001c0032t0033g0039	1	194	0.0052	51	c.348 others(70): Show c.348+21693_348+21694insTTTCCTTTCCTTTCCTTTCCTTTCCT TTTCTTTCCTTTTCCTTTCCTTTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80748419	G G	GGAAGCCT others(44): Show GGAAGCCTTGGCGGGAGGGCCTGTTGGATGGAGGGACTGCGGTGTGTGTT TA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp2 HG02717.hp1 others(2): Show HG02109.hp2 HG02486.hp2 HG02717.hp1 HG03041.hp1 HG03195.hp2	a0001 a0001	a0001c0008 a0001c0009 a0001c0065 others(1): Show a0001c0008 a0001c0009 a0001c0065 a0001c0066	a0001c0008t0036 a0001c0009t0001 a0001c0009t0012 others(2): Show a0001c0008t0036 a0001c0009t0001 a0001c0009t0012 a0001c0065t0006 a0001c0066t0058	a0001c0008t0036g0002 a0001c0009t0001g0125 a0001c0009t0012g0106 others(2): Show a0001c0008t0036g0002 a0001c0009t0001g0125 a0001c0009t0012g0106 a0001c0065t0006g0104 a0001c0066t0058g0126	5	122	0.0410	51	c.655 others(68): Show c.655-5589_655-5588insAGCCTTGGCGGGAGGGCCTGTTGGATGG AGGGACTGCGGTGTGTGTTTAGA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80748906	G G	GGAGGCCG others(44): Show GGAGGCCGTGGCGGGAGGACCTGTTGGATGGAGGGACTGCGGTGTGTGTT TA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03041.hp1 HG03195.hp2 HG02486.hp2 HG03041.hp1 HG03195.hp2	a0001 a0001	a0001c0008 a0001c0009 a0001c0066 a0001c0008 a0001c0009 a0001c0066	a0001c0008t0036 a0001c0009t0001 a0001c0066t0058 a0001c0008t0036 a0001c0009t0001 a0001c0066t0058	a0001c0008t0036g0002 a0001c0009t0001g0125 a0001c0066t0058g0126 a0001c0008t0036g0002 a0001c0009t0001g0125 a0001c0066t0058g0126	3	194	0.0155	51	c.655 others(68): Show c.655-5087_655-5086insACCTGTTGGATGGAGGGACTGCGGTGTG TGTTTAGAGGCCGTGGCGGGAGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRM1_chr11_4089799_4143932	4138067	C C	CGGGGGGC others(44): Show CGGGGGGCTGACCCCCCCCACCACCCTCCCGGACGGGGCGGCTGGCCGGG CG	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18966.hp2 HG02738.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0128 a0001c0001t0001g0135	2	78	0.0256	51	c.219 others(68): Show c.2191-123_2191-122insGCTGACCCCCCCCACCACCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGG	RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
RRM1_chr11_4089799_4143932	4138076	A A	ACCCCCCC others(44): Show ACCCCCCCACCACCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01884.hp2 HG01943.hp1 others(29): Show HG01346.hp1 HG01884.hp2 HG01943.hp1 HG02055.hp1 HG02080.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03486.hp1 HG03540.hp1 NA18522.hp1 NA18522.hp2 NA19006.hp1 NA19030.hp1 NA19043.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0004c0008	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 a0004c0008t0001	a0001c0001t0001g0175 a0001c0001t0001g0279 a0001c0001t0001g0280 others(29): Show a0001c0001t0001g0175 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0002t0001g0088 a0001c0002t0001g0111 a0001c0005t0001g0297 a0001c0005t0001g0299 a0001c0005t0001g0301 a0001c0006t0001g0169 a0001c0006t0001g0214 a0001c0006t0001g0240 a0004c0008t0001g0298	32	117	0.2735	51	c.219 others(68): Show c.2191-109_2191-108insACCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCCCACC	RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
RSRC1_chr3_158105089_158550730	158117910	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	274	0.0036	51	c.-2- others(66): Show c.-2-4191_-2-4190insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RTN1_chr14_59590983_59875776	59750232	A A	ATATAATA others(44): Show ATATAATATATATTATATCTATAATATATTATATATTATATCTATAATAT AT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG01081.hp2 others(4): Show HG00140.hp1 HG00280.hp2 HG01081.hp2 HG01099.hp2 HG01515.hp1 HG01516.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0066 a0001c0001t0001g0084 others(4): Show a0001c0001t0001g0035 a0001c0001t0001g0066 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0102	7	166	0.0422	51	c.242 others(68): Show c.242-3752_242-3751insATATATTATAGATATAATATATAATATA TTATAGATATAATATATATTATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59750527	T T	TATATAAT others(44): Show TATATAATATATCTATAATATATATATATCTATAATATATAATATATCTA TA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01433.hp2 HG02258.hp2 HG00140.hp2 HG01433.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0167 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0167	3	170	0.0176	51	c.242 others(68): Show c.242-4047_242-4046insTATAGATATATTATATATTATAGATATA TATATATTATAGATATATTATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTP5_chr2_241864729_241878823	241866265	G G	GGCTGAGC others(44): Show GGCTGAGCTGCGCGGGATGCTGAGCTGCGCGGGATGCTGAGCTGCGCGGG AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0003 a0009c0011t0003	a0009c0011t0003g0001 a0009c0011t0003g0001	1	255	0.0039	51	c.-34 others(62): Show c.-3492_-3491insGCTGAGCTGCGCGGGATGCTGAGCTGCGCGGGAT GCTGAGCTGCGCGGGAT	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		3463		chr2	TogoVar
RTP5_chr2_241864729_241878823	241866310	G G	GCGGGATG others(44): Show GCGGGATGCTGAGCTGCGCGGGATGCTGAGCTGCGGGGGGATGCTGAGCT GC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01099.hp1 others(6): Show HG00735.hp1 HG00735.hp2 HG01099.hp1 HG01255.hp2 HG02015.hp2 HG02683.hp2 HG03927.hp2 HG03942.hp2 NA19054.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0032 a0003c0003t0003 a0003c0003t0032	a0003c0003t0003g0001 a0003c0003t0003g0010 a0003c0003t0003g0019 others(1): Show a0003c0003t0003g0001 a0003c0003t0003g0010 a0003c0003t0003g0019 a0003c0003t0032g0001	9	281	0.0320	51	c.-34 others(62): Show c.-3447_-3446insCGGGATGCTGAGCTGCGCGGGATGCTGAGCTGCG GGGGGATGCTGAGCTGC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		3418		chr2	TogoVar
RTP5_chr2_241864729_241878823	241866310	G G	GCGGGATG others(44): Show GCGGGATGCTGAGCTGCGGGGGGATGCTGAGCTGCGGGGGATGCTGAGCT GC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG02258.hp2 HG01496.hp2 HG02258.hp2	a0003 a0008 a0003 a0008	a0003c0003 a0008c0008 a0003c0003 a0008c0008	a0003c0003t0003 a0008c0008t0006 a0003c0003t0003 a0008c0008t0006	a0003c0003t0003g0018 a0008c0008t0006g0011 a0003c0003t0003g0018 a0008c0008t0006g0011	2	274	0.0073	51	c.-34 others(62): Show c.-3447_-3446insCGGGATGCTGAGCTGCGGGGGGATGCTGAGCTGC GGGGGATGCTGAGCTGC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		3418		chr2	TogoVar
RTP5_chr2_241864729_241878823	241866310	G G	GGGGGGAT others(44): Show GGGGGGATGCTGAGCTGCGGGGGATGCTGAGCTGCGGGGGATGCTGAGCT GC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp2 HG03579.hp2 HG02738.hp1 HG02738.hp2 HG03579.hp2	a0003 a0008 a0003 a0008	a0003c0003 a0008c0008 a0003c0003 a0008c0008	a0003c0003t0003 a0008c0008t0006 a0003c0003t0003 a0008c0008t0006	a0003c0003t0003g0001 a0008c0008t0006g0011 a0003c0003t0003g0001 a0008c0008t0006g0011	3	275	0.0109	51	c.-34 others(62): Show c.-3447_-3446insGGGGGATGCTGAGCTGCGGGGGATGCTGAGCTGC GGGGGATGCTGAGCTGC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		3418		chr2	TogoVar
RTP5_chr2_241864729_241878823	241878107	G G	GCCCCCCC others(44): Show GCCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGC CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 NA18956.hp1 HG00621.hp1 NA18956.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0030 a0002c0002t0001 a0002c0002t0030	a0002c0002t0001g0002 a0002c0002t0030g0002 a0002c0002t0001g0002 a0002c0002t0030g0002	2	275	0.0073	51	c.48 others(62): Show c.4833_*4834insCCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCT CCCTCTCCTGGCCGCCC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4285		chr2	TogoVar
RUBCN_chr3_197663867_197741904	197731626	A A	ACCCCCCC others(44): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTG AC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0022 a0001c0002t0002g0022	1	183	0.0055	51	c.65+ others(66): Show c.65+5028_65+5029insGTCAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGG	RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding	1/19			chr3	TogoVar
RUNDC3B_chr7_87623398_87837296	87626198	A A	ATTGTCAT others(44): Show ATTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATAT AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0108 a0001c0001t0019g0108	1	79	0.0127	51	c.-26 others(62): Show c.-2626_-2625insTTGTCATATATATGTGTCATATATATTGTCATAT ATATGTGTCATATATAT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2199		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626246	A A	ATTGTCAT others(44): Show ATTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATAT AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	58	0.0172	51	c.-25 others(62): Show c.-2578_-2577insTTGTCATATATATGTGTCATATATATTGTCATAT ATATGTGTCATATATAT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2151		chr7	TogoVar
RXFP2_chr13_31734526_31808389	31759375	G G	GAGAAAGA others(44): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	34	0.0294	51	c.241 others(67): Show c.241+973_241+1023dupGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAA	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
RXFP3_chr5_33931386_33943918	33935020	T T	TTTTCTTT others(44): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTCTT TC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0000 a0001c0003t0006g0000	1	99	0.0101	51	c.-17 others(62): Show c.-1721_-1720insTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTCTTTCTTTC	RXFP3	ENSG00000182631.7	transcript	ENST00000330120.5	protein_coding		1365		chr5	TogoVar
RYR2_chr1_237037184_237838988	237237945	C C	CCCTTTCC others(44): Show CCCTTTCCTTTCCCCTTTCCTTTCCCCTTTCCTTTCCCCTTTCCTTTCCT TT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp1 HG02293.hp1 HG00738.hp2 HG01074.hp1 HG02293.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0006 a0001c0001 a0001c0003 a0003c0006	a0001c0001t0003 a0001c0003t0001 a0003c0006t0004 a0001c0001t0003 a0001c0003t0001 a0003c0006t0004	a0001c0001t0003g0088 a0001c0003t0001g0078 a0003c0006t0004g0087 a0001c0001t0003g0088 a0001c0003t0001g0078 a0003c0006t0004g0087	3	11	0.2727	51	c.49- others(68): Show c.49-32540_49-32539insCCTTTCCTTTCCCCTTTCCTTTCCCCTT TCCTTTCCTTTCCTTTCCTTTCC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237473442	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18522.hp2 HG03516.hp2 NA18522.hp2	a0001 a0001	a0001c0037 a0001c0048 a0001c0037 a0001c0048	a0001c0037t0012 a0001c0048t0001 a0001c0037t0012 a0001c0048t0001	a0001c0037t0012g0037 a0001c0048t0001g0007 a0001c0037t0012g0037 a0001c0048t0001g0007	2	69	0.0290	51	c.170 others(70): Show c.1708+4275_1708+4276insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTCTTTCTTTCTTTCTTTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
S1PR1_chr1_101232019_101246518	101244310	C C	CAATAATA others(44): Show CAATAATATCCATAATTATATATATCATATTAATCATATCAATATAATTC AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	454	0.0022	51	c.41 others(62): Show c.4177_*4178insAATAATATCCATAATTATATATATCATATTAATC ATATCAATATAATTCAT	S1PR1	ENSG00000170989.10	transcript	ENST00000305352.7	protein_coding		2793		chr1	TogoVar
SAMD4A_chr14_54562128_54798312	54724007	T T	TGGAAGGA others(44): Show TGGAAGGAAGGAAGGAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0226 a0001c0001t0012g0226	1	62	0.0161	51	c.716 others(70): Show c.716-13000_716-12999insAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAG	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SARDH_chr9_133658560_133743352	133668454	T T	TCCCTCAC others(44): Show TCCCTCACCCTCCCTCTCCCCTCACCCTCTCTCTCCCTCACCCTCCCTCT CA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0040 a0003c0040	a0003c0040t0002 a0003c0040t0002	a0003c0040t0002g0123 a0003c0040t0002g0123	1	193	0.0052	51	c.249 others(70): Show c.2496-1585_2496-1584insTGAGAGGGAGGGTGAGGGAGAGAGAG GGTGAGGGGAGAGGGAGGGTGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669171	T T	TCCCCTCA others(44): Show TCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCATCCTCCCTC TC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03579.hp2 HG02630.hp2 HG03579.hp2	a0001 a0001	a0001c0030 a0001c0051 a0001c0030 a0001c0051	a0001c0030t0001 a0001c0051t0001 a0001c0030t0001 a0001c0051t0001	a0001c0030t0001g0229 a0001c0051t0001g0033 a0001c0030t0001g0229 a0001c0051t0001g0033	2	248	0.0081	51	c.249 others(70): Show c.2495+1412_2495+1413insGAGAGGGAGGATGAGGGGAGAGGGAG GGTGAGGGAGAGGGAGGGTGAGGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0160 a0001c0003t0002g0160	1	12	0.0833	51	c.56- others(66): Show c.56-2880_56-2879insAAAAAAAAAAAAATATATATATATATATAT ATATATATATATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SCAMP1_chr5_78355617_78485739	78460804	C C	CTTTCTTT others(44): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0280 a0001c0001t0003g0280	1	264	0.0038	51	c.852 others(68): Show c.852+1442_852+1443insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar

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