Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(44): Show CTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0261 a0001c0002t0004g0261	1	388	0.0026	51	c.207 others(66): Show c.207+489_207+490insTTCTTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTTCTT others(44): Show CTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0272 a0001c0002t0004g0272	1	388	0.0026	51	c.207 others(66): Show c.207+489_207+490insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296156	C C	CTTTCTCT others(44): Show CTTTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0156 a0001c0001t0006g0156	1	388	0.0026	51	c.207 others(66): Show c.207+522_207+523insTCTCTCTCTCTCTCTCTTTCTCTTTCTTTC TTTCTTTCTTTCTTTCTTTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296161	C C	CTTTCTCT others(44): Show CTTTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00642.hp1 HG01975.hp2 others(8): Show HG00544.hp2 HG00642.hp1 HG01975.hp2 HG02027.hp1 HG02273.hp1 HG02293.hp1 HG02698.hp2 NA18943.hp2 NA18954.hp1 NA18954.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0037 a0001c0002t0003 others(2): Show a0001c0001t0006 a0001c0001t0037 a0001c0002t0003 a0001c0002t0010 a0001c0002t0016	a0001c0001t0006g0161 a0001c0001t0006g0163 a0001c0001t0037g0165 others(7): Show a0001c0001t0006g0161 a0001c0001t0006g0163 a0001c0001t0037g0165 a0001c0002t0003g0006 a0001c0002t0003g0162 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0010g0168 a0001c0002t0010g0169 a0001c0002t0016g0164	11	388	0.0284	51	c.207 others(66): Show c.207+527_207+528insTCTCTCTCTCTCTCTCTTTCTCTTTCTTTC TTTCTTTCTTTCTTTCTTTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296162	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01074.hp2 HG01517.hp1 others(9): Show HG00408.hp2 HG01074.hp2 HG01517.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02293.hp2 HG03710.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0015 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0002t0004 a0001c0002t0020	a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0344 others(9): Show a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0344 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0365 a0001c0001t0001g0367 a0001c0001t0015g0335 a0001c0002t0004g0251 a0001c0002t0004g0262 a0001c0002t0004g0347 a0001c0002t0020g0253	12	388	0.0309	51	c.207 others(66): Show c.207+527_207+528insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296167	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0256 a0001c0001t0005g0256	1	388	0.0026	51	c.207 others(66): Show c.207+532_207+533insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFTN1_chr3_16310845_16518699	16404013	T T	TTATATAT others(44): Show TTATATATAATATATATTTTATATATATTTTATATATAATATATATTTTA TA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01978.hp1 HG02572.hp1 others(1): Show HG01192.hp2 HG01978.hp1 HG02572.hp1 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0007 a0002c0003t0004 a0001c0001t0001 a0001c0002t0007 a0002c0003t0004	a0001c0001t0001g0075 a0001c0002t0007g0051 a0001c0002t0007g0240 others(1): Show a0001c0001t0001g0075 a0001c0002t0007g0051 a0001c0002t0007g0240 a0002c0003t0004g0135	4	268	0.0149	51	c.441 others(68): Show c.441+5361_441+5362insTATAAAATATATATTATATATAAAATAT ATATAAAATATATATTATATATA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RGMA_chr15_93030271_93094211	93038569	G G	GTTTTTTT others(44): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0224 a0001c0002t0224	a0001c0002t0224g0116 a0001c0002t0224g0116	1	414	0.0024	51	c.64 others(62): Show c.6428_*6429insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	RGMA	ENSG00000182175.15	transcript	ENST00000329082.12	protein_coding	4/4	6428		chr15	TogoVar
RGN_chrX_47073443_47098313	47090909	G G	GAAGAAAG others(44): Show GAAGAAAGAAAGAAGAAAGAAAGAAAGAAGGAAAGAAAGAAGGAAAGAAA GA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	304	0.0033	51	c.563 others(66): Show c.563-764_563-763insAGAAAGAAGAAAGAAAGAAAGAAGGAAAGA AAGAAGGAAAGAAAGAAAGAA	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	5/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
RGN_chrX_47073443_47098313	47090961	A A	AAAGAAAG others(44): Show AAAGAAAGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	304	0.0033	51	c.563 others(66): Show c.563-708_563-707insGGAAGGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAGAAAGAA	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	5/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
RGPD6_chr2_110508802_110582222	110572565	C C	CAAAACAT others(44): Show CAAAACATAATAGAAAAATAATTCCATTACCTTCTTTGCTTCCAACTATG TT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	2	0.5000	51	c.73- others(66): Show c.73-2892_73-2842dupAACATAGTTGGAAGCAAAGAAGGTAATGGA ATTATTTTTCTATTATGTTTT	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	1/22			chr2	TogoVar
RGS12_chr4_3288021_3444913	3359033	C C	CTCCCCTC others(44): Show CTCCCCTCCCCCCTCCTCCCCTCCCCCTCTTCCTCCTCCTCCCCTCCTCC CT	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18522.hp2 HG02559.hp1 NA18522.hp2	a0005 a0005	a0005c0012 a0005c0053 a0005c0012 a0005c0053	a0005c0012t0001 a0005c0053t0001 a0005c0012t0001 a0005c0053t0001	a0005c0012t0001g0139 a0005c0053t0001g0140 a0005c0012t0001g0139 a0005c0053t0001g0140	2	312	0.0064	51	c.199 others(72): Show c.1998+15980_1998+15981insTCCCCTCCCCCCTCCTCCCCTCCC CCTCTTCCTCCTCCTCCCCTCCTCCCT	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	3/17			chr4	TogoVar
RGS12_chr4_3288021_3444913	3359351	C C	CCTTCTTT others(44): Show CCTTCTTTCCTCCTCCCCCTTCTTTCCTCCTCCCCCTTCTTTCCTCCTCC CG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp2 HG02145.hp2 others(9): Show HG01167.hp1 HG01243.hp2 HG02145.hp2 HG02559.hp1 HG02630.hp2 HG02886.hp1 HG02896.hp1 HG03098.hp2 HG03471.hp1 HG03579.hp1 NA18522.hp2 NA19030.hp2	a0005 a0005	a0005c0012 a0005c0051 a0005c0052 others(2): Show a0005c0012 a0005c0051 a0005c0052 a0005c0053 a0005c0054	a0005c0012t0001 a0005c0051t0001 a0005c0052t0001 others(2): Show a0005c0012t0001 a0005c0051t0001 a0005c0052t0001 a0005c0053t0001 a0005c0054t0001	a0005c0012t0001g0139 a0005c0012t0001g0151 a0005c0012t0001g0152 others(9): Show a0005c0012t0001g0139 a0005c0012t0001g0151 a0005c0012t0001g0152 a0005c0012t0001g0155 a0005c0012t0001g0156 a0005c0012t0001g0157 a0005c0012t0001g0158 a0005c0012t0001g0160 a0005c0051t0001g0153 a0005c0052t0001g0159 a0005c0053t0001g0140 a0005c0054t0001g0154	12	312	0.0385	51	c.199 others(72): Show c.1998+16298_1998+16299insCTTCTTTCCTCCTCCCCCTTCTTT CCTCCTCCCCCTTCTTTCCTCCTCCCG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	3/17			chr4	TogoVar
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	112	0.0089	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	a0001c0001t0006g0054 a0001c0001t0006g0054	1	398	0.0025	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	a0001c0001t0038g0025 a0001c0001t0038g0025	1	338	0.0030	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	a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0024 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0024	3	338	0.0089	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	180	0.0056	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	a0002c0018t0022 a0002c0018t0022	a0002c0018t0022g0105 a0002c0018t0022g0105	1	140	0.0071	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 a0014 a0001 a0014	a0001c0001 a0014c0023 a0001c0001 a0014c0023	a0001c0001t0012 a0014c0023t0018 a0001c0001t0012 a0014c0023t0018	a0001c0001t0012g0108 a0014c0023t0018g0215 a0001c0001t0012g0108 a0014c0023t0018g0215	2	328	0.0061	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	240	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	a0003c0003t0001g0330 a0003c0003t0001g0330	1	338	0.0030	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	a0001c0002t0001g0205 a0001c0002t0001g0205	1	374	0.0027	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	a0001c0001t0012g0029 a0001c0001t0012g0029	1	184	0.0054	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	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0206 a0001c0002t0053g0206	1	310	0.0032	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	a0055 a0055	a0055c0048 a0055c0048	a0055c0048t0063 a0055c0048t0063	a0055c0048t0063g0245 a0055c0048t0063g0245	1	292	0.0034	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	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0114 a0002c0002t0021g0114	1	292	0.0034	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	a0001c0001t0001g0121 a0001c0001t0001g0121	1	220	0.0046	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	a0001c0001t0002g0129 a0001c0001t0002g0129	1	220	0.0046	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 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0016 a0001c0002t0001g0022 a0001c0002t0001g0031 a0001c0002t0001g0036 a0001c0002t0001g0085 a0001c0002t0001g0094 a0001c0002t0001g0103	38	370	0.1027	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	375	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 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015 a0002c0005 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0013 a0001c0001t0032 a0001c0002t0003 a0001c0004t0001 a0001c0004t0026 a0001c0015t0007 a0002c0005t0005 a0002c0005t0023 a0006c0009t0001	a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0080 others(12): Show a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0080 a0001c0001t0001g0128 a0001c0001t0002g0029 a0001c0001t0009g0094 a0001c0001t0013g0055 a0001c0001t0032g0004 a0001c0002t0003g0033 a0001c0004t0001g0050 a0001c0004t0026g0013 a0001c0015t0007g0026 a0002c0005t0005g0035 a0002c0005t0023g0125 a0006c0009t0001g0054	15	133	0.1128	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	133	0.0075	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	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0016 a0003c0011t0001g0016	1	133	0.0075	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	a0001c0001t0016g0082 a0001c0003t0036g0064 a0001c0001t0016g0082 a0001c0003t0036g0064	2	133	0.0150	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	266	0.0038	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	318	0.0094	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	196	0.0051	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 a0001c0065t0007 a0001c0066t0058	a0001c0008t0036g0002 a0001c0009t0001g0125 a0001c0009t0012g0103 others(2): Show a0001c0008t0036g0002 a0001c0009t0001g0125 a0001c0009t0012g0103 a0001c0065t0007g0101 a0001c0066t0058g0126	5	196	0.0255	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	196	0.0153	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	a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0187 a0001c0001t0001g0194	2	368	0.0054	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	a0001c0001t0001g0069 a0001c0001t0001g0233 a0001c0001t0001g0304 others(29): Show a0001c0001t0001g0069 a0001c0001t0001g0233 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0002t0001g0148 a0001c0002t0001g0170 a0001c0005t0001g0321 a0001c0005t0001g0323 a0001c0005t0001g0325 a0001c0006t0001g0229 a0001c0006t0001g0272 a0001c0006t0001g0300 a0004c0008t0001g0322	32	368	0.0870	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	a0001c0001t0002g0258 a0001c0001t0002g0258	1	276	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 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0066 a0001c0001t0001g0084 a0001c0001t0001g0087 others(4): Show a0001c0001t0001g0066 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0003g0012	7	172	0.0407	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 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0086 a0001c0001t0003g0082 a0001c0001t0003g0167 a0001c0001t0001g0086 a0001c0001t0003g0082 a0001c0001t0003g0167	3	172	0.0174	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	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0003 a0010c0011t0003	a0010c0011t0003g0001 a0010c0011t0003g0001	1	365	0.0027	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(7): Show HG00735.hp1 HG00735.hp2 HG01099.hp1 HG01255.hp2 HG02015.hp2 HG02683.hp2 HG03927.hp2 HG03942.hp2 NA19054.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0033 a0003c0003t0003 a0003c0003t0033	a0003c0003t0003g0001 a0003c0003t0003g0010 a0003c0003t0003g0019 others(1): Show a0003c0003t0003g0001 a0003c0003t0003g0010 a0003c0003t0003g0019 a0003c0003t0033g0001	10	365	0.0274	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	365	0.0055	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	365	0.0082	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 a0002c0002t0031 a0002c0002t0001 a0002c0002t0031	a0002c0002t0001g0002 a0002c0002t0031g0002 a0002c0002t0001g0002 a0002c0002t0031g0002	2	365	0.0055	51	c.48 others(62): Show c.4833_*4834insCCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCT CCCTCTCCTGGCCGCCC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4285		chr2	TogoVar

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