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
RGS12_chr4_3288021_3444913	3309220	GAGGAGGA others(45): Show GAGGAGGAGCTGGGACTCGGGAATGGCAGGTGTCTGCTGAGGGGAACCGT GTT	G G	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18959.hp1 NA18986.hp1 others(1): Show NA18945.hp1 NA18959.hp1 NA18986.hp1 NA18994.hp1	a0007 a0007	a0007c0024 a0007c0025 a0007c0024 a0007c0025	a0007c0024t0001 a0007c0025t0001 a0007c0024t0001 a0007c0025t0001	a0007c0024t0001g0280 a0007c0024t0001g0281 a0007c0025t0001g0278 others(1): Show a0007c0024t0001g0280 a0007c0024t0001g0281 a0007c0025t0001g0278 a0007c0025t0001g0279	4	310	0.0129	-52	c.-10 others(71): Show c.-101-6849_-101-6798delAGGAGGAGCTGGGACTCGGGAATGGC AGGTGTCTGCTGAGGGGAACCGTGTT	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17			chr4	TogoVar
RGS12_chr4_3288021_3444913	3341632	GGGGGAGG others(45): Show GGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGATGGGGG TGT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03239.hp1 HG02723.hp2 HG03239.hp1	a0001 a0015 a0001 a0015	a0001c0021 a0015c0033 a0001c0021 a0015c0033	a0001c0021t0001 a0015c0033t0001 a0001c0021t0001 a0015c0033t0001	a0001c0021t0001g0005 a0015c0033t0001g0270 a0001c0021t0001g0005 a0015c0033t0001g0270	2	310	0.0065	-52	c.188 others(71): Show c.1882-1272_1882-1221delGGGAGGGGAGATGGGGGTGTGGGGAG GGAGGGTGGAGAGATGGGGGTGTGGG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RHCG_chr15_89466407_89501583	89474796	TCCTGCCT others(45): Show TCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTC CTG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00738.hp1 others(35): Show HG00280.hp1 HG00438.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01167.hp2 HG01169.hp2 HG01256.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01975.hp1 HG01978.hp2 HG02074.hp1 HG02273.hp1 HG02273.hp2 HG02523.hp2 HG02602.hp1 HG03098.hp1 HG03239.hp1 HG03490.hp2 HG03669.hp1 HG03688.hp1 HG03927.hp1 HG06807.hp2 NA18946.hp2 NA18972.hp2 NA18974.hp2 NA18977.hp1 NA18982.hp2 NA19009.hp1 NA19011.hp2 NA19064.hp1 NA19088.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0014 a0001c0001 a0002c0002 a0010c0014	a0001c0001t0002 a0002c0002t0002 a0002c0002t0005 others(1): Show a0001c0001t0002 a0002c0002t0002 a0002c0002t0005 a0010c0014t0005	a0001c0001t0002g0017 a0001c0001t0002g0026 a0001c0001t0002g0043 others(23): Show a0001c0001t0002g0017 a0001c0001t0002g0026 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0071 a0001c0001t0002g0109 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0140 a0001c0001t0002g0191 a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0222 a0002c0002t0002g0004 a0002c0002t0002g0030 a0002c0002t0002g0072 a0002c0002t0002g0100 a0002c0002t0002g0103 a0002c0002t0002g0105 a0002c0002t0002g0108 a0002c0002t0002g0112 a0002c0002t0002g0135 a0002c0002t0002g0137 a0002c0002t0005g0102 a0010c0014t0005g0227	38	358	0.1061	-52	c.131 others(71): Show c.1311+1907_1312-1934delCAGGAAGGAAGGCAGGCAGGAAGGAA GGCAGGCAGGAAGGAAGGCAGGCAGG	RHCG	ENSG00000140519.14	transcript	ENST00000268122.9	protein_coding	9/10			chr15	TogoVar
RHEB_chr7_151461012_151524895	151520834	TGTTTGGC others(45): Show TGTTTGGCAGTGGGGACCTGCAGAGGCCGGGCATGGCCCTTCGCCCTTTG CCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	362	0.0028	-52	c.-13 others(63): Show c.-1375_-1324delTGGCAAAGGGCGAAGGGCCATGCCCGGCCTCTGC AGGTCCCCACTGCCAAAC	RHEB	ENSG00000106615.10	transcript	ENST00000262187.10	protein_coding		940		chr7	TogoVar
RHOC_chr1_112696131_112712127	112706462	CACCACAC others(45): Show CACCACACACACACACACACACACACACACACACACACACACACACACAC ACA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01256.hp1 HG01258.hp1 others(2): Show HG01255.hp2 HG01256.hp1 HG01258.hp1 HG02148.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	5	355	0.0141	-52	c.-77 others(67): Show c.-77+564_-77+615delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGGT	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RIGI_chr9_32450302_32531196	32504747	TAAAATAT others(45): Show TAAAATATATAAAATATATTTAATACATAAAATATATAAAATATATTTAA TAC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01891.hp2 others(3): Show HG01070.hp1 HG01071.hp1 HG01891.hp2 HG02717.hp2 HG03209.hp1 HG03453.hp2	a0005 a0005	a0005c0011 a0005c0018 a0005c0011 a0005c0018	a0005c0011t0005 a0005c0018t0008 a0005c0011t0005 a0005c0018t0008	a0005c0011t0005g0002 a0005c0011t0005g0010 a0005c0018t0008g0251 a0005c0011t0005g0002 a0005c0011t0005g0010 a0005c0018t0008g0251	6	340	0.0176	-52	c.107 others(69): Show c.107-3860_107-3809delGTATTAAATATATTTTATATATTTTATG TATTAAATATATTTTATATATTTT	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	1/17			chr9	TogoVar
RIMBP2_chr12_130391133_130721299	130415608	ATCTCTCT others(45): Show ATCTCTCTTCACTGATGATACGGCATCCATATAGGAAACAAGAAGTCAAA TTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00639.hp1 others(58): Show HG00099.hp2 HG00280.hp1 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02071.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02698.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp2 HG03225.hp1 HG03540.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 NA18950.hp2 NA18979.hp2 NA18980.hp2 NA18986.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19064.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA20752.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0017	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0001c0019 a0001c0021 a0001c0028 a0001c0032 a0002c0026 a0005c0015 a0017c0047	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0006t0001 a0001c0011t0001 a0001c0019t0001 a0001c0021t0001 a0001c0028t0001 a0001c0032t0001 a0002c0026t0001 a0005c0015t0001 a0017c0047t0001	a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0029 others(58): Show a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0106 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0002g0008 a0001c0001t0002g0031 a0001c0001t0002g0084 a0001c0001t0002g0091 a0001c0001t0002g0126 a0001c0001t0005g0006 a0001c0001t0005g0078 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0036 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0002t0001g0151 a0001c0002t0001g0161 a0001c0002t0002g0007 a0001c0002t0002g0034 a0001c0002t0002g0044 a0001c0003t0001g0010 a0001c0003t0001g0048 a0001c0003t0001g0058 a0001c0003t0001g0077 a0001c0003t0001g0116 a0001c0003t0001g0136 a0001c0003t0001g0148 a0001c0003t0002g0079 a0001c0004t0001g0004 a0001c0004t0001g0020 a0001c0004t0001g0180 a0001c0004t0002g0003 a0001c0004t0002g0115 a0001c0005t0001g0111 a0001c0006t0001g0009 a0001c0006t0001g0075 a0001c0006t0001g0076 a0001c0011t0001g0109 a0001c0011t0001g0159 a0001c0019t0001g0023 a0001c0021t0001g0043 a0001c0028t0001g0114 a0001c0032t0001g0026 a0002c0026t0001g0117 a0005c0015t0001g0066 a0005c0015t0001g0139 a0017c0047t0001g0013	61	178	0.3427	-52	c.323 others(71): Show c.3239-1354_3239-1303delGAATTTGACTTCTTGTTTCCTATATG GATGCCGTATCATCAGTGAAGAGAGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	17/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130667106	AAAAGGAA others(45): Show AAAAGGAATGAGGGAGGGAAGGAAGGAGAGAGGGAGGGAAGGGAGGAAGG GAG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	177	0.0056	-52	c.-35 others(73): Show c.-351-38702_-351-38651delCTCCCTTCCTCCCTTCCCTCCCTC TCTCCTTCCTTCCCTCCCTCATTCCTTT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIN2_chr20_19753258_20007456	19844646	TTCTTCTT others(45): Show TTCTTCTTCTTCTTCTTCTTCTTCCTTCTTCTTCTTCTTCCTCTTCCTCT TCC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0002t0041 a0001c0001t0001 a0001c0001t0009 a0001c0002t0041	a0001c0001t0001g0167 a0001c0001t0009g0130 a0001c0002t0041g0169 a0001c0001t0001g0167 a0001c0001t0009g0130 a0001c0002t0041g0169	3	274	0.0109	-52	c.-36 others(71): Show c.-36-44896_-36-44845delCTTCTTCTTCTTCTTCCTCTTCCTCT TCCTCTTCTTCTTCTTCTTCTTCTTC	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
RIN3_chr14_92508781_92693994	92640424	ATTTGCTG others(45): Show ATTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGACTGT GCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02135.hp2 HG04184.hp2 others(3): Show HG00408.hp1 HG02135.hp2 HG04184.hp2 NA18961.hp1 NA18969.hp2 NA19054.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0036 a0004c0004 a0001c0001 a0001c0036 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0036t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0036t0001 a0004c0004t0001 a0004c0004t0002	a0001c0001t0001g0123 a0001c0001t0002g0055 a0001c0036t0001g0130 others(3): Show a0001c0001t0001g0123 a0001c0001t0002g0055 a0001c0036t0001g0130 a0004c0004t0001g0152 a0004c0004t0001g0303 a0004c0004t0002g0131	6	151	0.0397	-52	c.441 others(67): Show c.441-579_441-528delTTCATCGGGGGCTGCCTGACTGTGCGTTTG CTGGGAGATGCCTGACTGTGTG	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNASET2_chr6_166917113_166961550	166955331	GCACGCAC others(45): Show GCACGCACACGCACACGCACGCACACACACACGCACACACAAACGCACAC GCA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0134 a0001c0003t0134	a0001c0003t0134g0231 a0001c0003t0134g0231	1	342	0.0029	-52	c.86+ others(65): Show c.86+714_86+765delTGCGTGTGCGTTTGTGTGTGCGTGTGTGTGTG CGTGCGTGTGCGTGTGCGTG	RNASET2	ENSG00000026297.17	transcript	ENST00000508775.6	protein_coding	1/8			chr6	TogoVar
RNASET2_chr6_166917113_166961550	166955343	ACACGCAC others(45): Show ACACGCACGCACACACACACGCACACACAAACGCACACGCACACACACAC ACG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0157 a0001c0001t0107g0157	1	340	0.0029	-52	c.86+ others(65): Show c.86+702_86+753delCGTGTGTGTGTGTGCGTGTGCGTTTGTGTGTG CGTGTGTGTGTGCGTGCGTG	RNASET2	ENSG00000026297.17	transcript	ENST00000508775.6	protein_coding	1/8			chr6	TogoVar
RNF169_chr11_74743849_74847413	74785158	TATATATA others(45): Show TATATATATATATATGATATATATATATGATATATATATGATATATATAT ATG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02809.hp2 others(10): Show HG02258.hp1 HG02451.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp1 HG06807.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0015 a0001c0001t0037 a0002c0003t0010 others(1): Show a0001c0001t0015 a0001c0001t0037 a0002c0003t0010 a0002c0003t0016	a0001c0001t0015g0315 a0001c0001t0015g0316 a0001c0001t0015g0317 others(9): Show a0001c0001t0015g0315 a0001c0001t0015g0316 a0001c0001t0015g0317 a0001c0001t0015g0318 a0001c0001t0037g0313 a0002c0003t0010g0015 a0002c0003t0010g0306 a0002c0003t0010g0307 a0002c0003t0010g0308 a0002c0003t0010g0309 a0002c0003t0016g0014 a0002c0003t0016g0015	13	351	0.0370	-52	c.503 others(69): Show c.503-4457_503-4406delATATGATATATATATATGATATATATAT GATATATATATATGATATATATAT	RNF169	ENSG00000166439.6	transcript	ENST00000299563.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
RNF38_chr9_36331400_36405269	36341815	TATATATA others(45): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TAA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG00609.hp1 others(36): Show HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00673.hp1 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01192.hp2 HG01261.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG02027.hp1 HG02083.hp1 HG02273.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02809.hp1 HG02922.hp2 NA18949.hp1 NA18951.hp1 NA18962.hp2 NA18972.hp1 NA18979.hp2 NA18983.hp1 NA18999.hp2 NA19002.hp1 NA19012.hp1 NA19055.hp2 NA19066.hp1 NA19079.hp2 NA19080.hp2 NA19086.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0018 a0001c0001t0001 a0001c0001t0007 a0001c0001t0018	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0007g0069 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0007g0072 a0001c0001t0018g0057	39	400	0.0975	-52	c.148 others(69): Show c.1485+458_1485+509delTTATATATATATATATATATATATATAT ATATATATATATATATATATATAT	RNF38	ENSG00000137075.18	transcript	ENST00000259605.11	protein_coding	11/11			chr9	TogoVar
RNFT2_chr12_116733315_116858631	116841804	TAAATATA others(45): Show TAAATATATATATAAAAATATATATATATAAATATATATATAAATATATA TAA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0027 a0001c0001t0014g0027	1	256	0.0039	-52	c.120 others(71): Show c.1200+5538_1200+5589delAATATATATATATAAATATATATATA AATATATATAAAAATATATATATAAA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNGTT_chr6_88604897_88968618	88947831	CTGAGAAG others(45): Show CTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCACCCCGTCTGAGAAGTG AGG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	17	0.0588	-52	c.65- others(67): Show c.65-6703_65-6652delCCTCACTTCTCAGACGGGGTGGTTGCCAGG CAGAGGGTCTCCTCACTTCTCA	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	1/15			chr6	TogoVar
ROBO1_chr3_78592239_79772998	78711348	CTCCTTCC others(45): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0008 a0001c0002t0013g0008	1	31	0.0323	-52	c.104 others(71): Show c.1045+2997_1045+3048delAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	8/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	78711350	CCTTCCTT others(45): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG01884.hp2 HG02280.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0009 a0002c0004t0007g0010 a0002c0004t0007g0009 a0002c0004t0007g0010	2	38	0.0526	-52	c.104 others(71): Show c.1045+2995_1045+3046delAAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAG	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	8/30			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77108251	CATATATA others(45): Show CATATATATGTATACACATATGCATATATATATATGTATACACATATGCA TAT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG04228.hp1 NA18960.hp2 others(1): Show HG02738.hp2 HG04228.hp1 NA18960.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008	a0001c0001t0004g0026 a0001c0001t0007g0157 a0001c0001t0007g0158 others(1): Show a0001c0001t0004g0026 a0001c0001t0007g0157 a0001c0001t0007g0158 a0001c0001t0008g0032	4	128	0.0313	-52	c.388 others(70): Show c.388+9951_388+10002delCACATATGCATATATATATATGTATAC ACATATGCATATATATATATGTATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77293999	CGGGTACA others(45): Show CGGGTACACTGAGGCTAGATCACCCAGACATAAAGTAAAATTGAAGATTA AAT	C C	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA19005.hp1 NA19079.hp1 NA18959.hp1 NA19005.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0001 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0039 a0001c0001t0005g0145 a0001c0001t0009g0089 a0001c0001t0001g0039 a0001c0001t0005g0145 a0001c0001t0009g0089	3	158	0.0190	-52	c.389 others(73): Show c.389-183411_389-183360delTACACTGAGGCTAGATCACCCAGA CATAAAGTAAAATTGAAGATTAAATGGG	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROPN1B_chr3_125964178_125988454	125973521	TATACGTT others(45): Show TATACGTTAGTTTCAAACCCATTTGATTGTTCTTGTGCTGCCGTTTTATA GTA	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	446	0.0022	-52	c.116 others(69): Show c.116+1353_116+1404delTACGTTAGTTTCAAACCCATTTGATTGT TCTTGTGCTGCCGTTTTATAGTAA	ROPN1B	ENSG00000114547.10	transcript	ENST00000514116.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
RORA_chr15_60483284_61234302	60516185	TTATATAT others(45): Show TTATATATATATTTATATATATATTTATATATATATATTTATATATATAT TTA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03834.hp1 HG03041.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0048 a0001c0001t0007 a0001c0001t0048	a0001c0001t0007g0028 a0001c0001t0048g0022 a0001c0001t0007g0028 a0001c0001t0048g0022	2	109	0.0183	-52	c.283 others(69): Show c.283-1480_283-1429delTAAATATATATATAAATATATATATATA AATATATATATAAATATATATATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60597571	TATACACA others(45): Show TATACACATATATATATATATATACACATATATATATATATATATATACA TAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0117 a0001c0001t0022g0117	1	114	0.0088	-52	c.197 others(71): Show c.197-65772_197-65721delGTATGTATATATATATATATATATAT GTGTATATATATATATATATGTGTAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60816082	GTATACTG others(45): Show GTATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGTAT TTA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01884.hp2 HG02647.hp1 others(4): Show HG01123.hp2 HG01884.hp2 HG02647.hp1 HG02723.hp2 HG02738.hp1 HG02886.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0011 a0001c0001t0045 others(4): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0045 a0001c0001t0052 a0001c0002t0003 a0001c0005t0004 a0001c0006t0004	a0001c0001t0001g0109 a0001c0001t0011g0066 a0001c0001t0045g0004 others(4): Show a0001c0001t0001g0109 a0001c0001t0011g0066 a0001c0001t0045g0004 a0001c0001t0052g0002 a0001c0002t0003g0080 a0001c0005t0004g0107 a0001c0006t0004g0078	7	49	0.1429	-52	c.167 others(73): Show c.167-137448_167-137397delTAAATACATATACTGTTTACAGTA TATAAATACATATACTGTTTACAGTATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORB_chr9_74492335_74698177	74549539	GGGAGGGA others(45): Show GGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA19074.hp1 HG00408.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0136 a0001c0001t0004g0125 a0001c0001t0001g0136 a0001c0001t0004g0125	2	128	0.0156	-52	c.7+5 others(67): Show c.7+51560_7+51611delGGGAGGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGA	RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RPH3AL_chr17_207389_357807	288349	TCCCTCTC others(45): Show TCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTC ACA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03540.hp1 HG03453.hp2 HG03540.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0014 a0001c0001 a0007c0014	a0001c0001t0006 a0007c0014t0018 a0001c0001t0006 a0007c0014t0018	a0001c0001t0006g0072 a0007c0014t0018g0102 a0001c0001t0006g0072 a0007c0014t0018g0102	2	69	0.0290	-52	c.352 others(69): Show c.352-6547_352-6496delTGTGAGGTCTGACGGTGGAGAGAGGGTG CGAGGTCTGACGGTGGAGAGAGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3A_chr12_112786748_112903881	112787452	TCTGATTT others(45): Show TCTGATTTCCTCATCTTGAAAATGGGTAAATAGCACAACACAACCTCCTT TCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0247 a0001c0002t0001g0247	1	264	0.0038	-52	c.-46 others(63): Show c.-4699_-4648delCTGATTTCCTCATCTTGAAAATGGGTAAATAGCA CAACACAACCTCCTTTCA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding		4295		chr12	TogoVar
RPS6KA5_chr14_90842861_91065641	90854167	TAATTATA others(45): Show TAATTATAGTGCAAGGAGCCTGATGTATGAAGATTTGACATTGTAATTTA TAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp2 HG02055.hp1 HG02109.hp1 others(35): Show HG00621.hp2 HG02055.hp1 HG02109.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 NA18906.hp2 NA18941.hp1 NA18950.hp1 NA18990.hp2 NA19043.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 others(30): Show a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0024 a0001c0001t0025 a0001c0001t0035 a0001c0001t0041 a0001c0001t0045 a0001c0001t0052 a0001c0001t0053 a0001c0001t0066 a0001c0001t0093 a0001c0001t0095 a0001c0001t0096 a0001c0001t0133 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0156 a0001c0001t0157 a0001c0001t0162 a0001c0001t0163 a0001c0001t0168 a0001c0001t0169 a0001c0001t0174 a0001c0001t0199 a0001c0001t0238 a0001c0001t0239 a0001c0001t0240 a0001c0001t0241 a0001c0001t0242 a0001c0001t0243	a0001c0001t0013g0011 a0001c0001t0013g0013 a0001c0001t0014g0199 others(35): Show a0001c0001t0013g0011 a0001c0001t0013g0013 a0001c0001t0014g0199 a0001c0001t0014g0209 a0001c0001t0016g0038 a0001c0001t0016g0062 a0001c0001t0024g0148 a0001c0001t0024g0155 a0001c0001t0025g0058 a0001c0001t0025g0059 a0001c0001t0035g0001 a0001c0001t0041g0024 a0001c0001t0045g0198 a0001c0001t0052g0140 a0001c0001t0053g0014 a0001c0001t0066g0210 a0001c0001t0093g0108 a0001c0001t0095g0036 a0001c0001t0096g0272 a0001c0001t0133g0193 a0001c0001t0146g0052 a0001c0001t0147g0200 a0001c0001t0148g0056 a0001c0001t0149g0055 a0001c0001t0156g0195 a0001c0001t0157g0144 a0001c0001t0162g0054 a0001c0001t0163g0053 a0001c0001t0168g0018 a0001c0001t0169g0219 a0001c0001t0174g0297 a0001c0001t0199g0277 a0001c0001t0238g0039 a0001c0001t0239g0040 a0001c0001t0240g0041 a0001c0001t0241g0017 a0001c0001t0242g0221 a0001c0001t0243g0220	38	304	0.1250	-52	c.17 others(65): Show c.17855_*17906delTTATAAATTACAATGTCAAATCTTCATACATC AGGCTCCTTGCACTATAATT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	17/17	17855		chr14	TogoVar
RPTOR_chr17_80539838_80971368	80565543	AGGAGGGG others(45): Show AGGAGGGGTTAGAGCCCCAGGGCTGGGAGGCGGAGGGAGGCGTGCACTGC TGT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02280.hp2 HG02451.hp2 others(5): Show HG01496.hp2 HG02280.hp2 HG02451.hp2 HG02683.hp2 HG02809.hp2 HG03130.hp1 HG03453.hp2 HG03654.hp2	a0001 a0001	a0001c0007 a0001c0010 a0001c0027 others(4): Show a0001c0007 a0001c0010 a0001c0027 a0001c0045 a0001c0064 a0001c0068 a0001c0071	a0001c0007t0090 a0001c0010t0009 a0001c0010t0032 others(5): Show a0001c0007t0090 a0001c0010t0009 a0001c0010t0032 a0001c0027t0097 a0001c0045t0091 a0001c0064t0005 a0001c0068t0025 a0001c0071t0088	a0001c0007t0090g0025 a0001c0010t0009g0057 a0001c0010t0032g0058 others(5): Show a0001c0007t0090g0025 a0001c0010t0009g0057 a0001c0010t0032g0058 a0001c0027t0097g0059 a0001c0045t0091g0036 a0001c0064t0005g0074 a0001c0068t0025g0107 a0001c0071t0088g0035	8	194	0.0412	-52	c.162 others(71): Show c.162+19845_162+19896delGTGCACTGCTGTGGAGGGGTTAGAGC CCCAGGGCTGGGAGGCGGAGGGAGGC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665471	TCCTTTCC others(45): Show TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCATGTCCTTTCCTTTCCT TTC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0081 a0001c0008t0081	a0001c0008t0081g0019 a0001c0008t0081g0019	1	191	0.0052	-52	c.348 others(71): Show c.348+21663_348+21714delCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCATGTCCTTTCCTTTCCTTTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80681626	CCTTCATG others(45): Show CCTTCATGAGGTGTACGTCTCTTACACCTTCATGAGGTGTACGTCTCTTA CAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0070 a0001c0070	a0001c0070t0020 a0001c0070t0020	a0001c0070t0020g0003 a0001c0070t0020g0003	1	194	0.0052	-52	c.349 others(71): Show c.349-26163_349-26112delGCTTCATGAGGTGTACGTCTCTTACA CCTTCATGAGGTGTACGTCTCTTACA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80681761	ATGAGGTG others(45): Show ATGAGGTGTACGTCTCTTACACCTTCATGAGGTGTACGTCTCTTACACCT TCT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG02683.hp1 others(2): Show HG01884.hp1 HG02486.hp2 HG02683.hp1 HG03041.hp1 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0033 others(2): Show a0001c0002 a0001c0009 a0001c0033 a0001c0066 a0001c0072	a0001c0002t0040 a0001c0009t0001 a0001c0033t0023 others(2): Show a0001c0002t0040 a0001c0009t0001 a0001c0033t0023 a0001c0066t0058 a0001c0072t0005	a0001c0002t0040g0108 a0001c0009t0001g0125 a0001c0033t0023g0078 others(2): Show a0001c0002t0040g0108 a0001c0009t0001g0125 a0001c0033t0023g0078 a0001c0066t0058g0126 a0001c0072t0005g0076	5	194	0.0258	-52	c.349 others(71): Show c.349-26073_349-26022delGTACGTCTCTTACACCTTCATGAGGT GTACGTCTCTTACACCTTCTTGAGGT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80887239	GCTCGGGG others(45): Show GCTCGGGGGGTGCGCTGGCTCTGAGGGGGTGTGCTGACTCTGAGGGGTGC CAC	G G	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0001 a0001c0060t0001	a0001c0060t0001g0135 a0001c0060t0001g0135	1	193	0.0052	-52	c.198 others(71): Show c.1983+2133_1983+2184delAGGGGTGCCACCTCGGGGGGTGCGCT GGCTCTGAGGGGGTGTGCTGACTCTG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	17/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSPH14_chr22_23054415_23146990	23130059	AAAAGAAA others(45): Show AAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAAGA AAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG00609.hp2 others(12): Show HG00099.hp1 HG00597.hp2 HG00609.hp2 HG01243.hp2 HG01515.hp1 HG01981.hp2 HG02056.hp1 HG02698.hp2 HG03239.hp2 NA18952.hp1 NA18967.hp2 NA19007.hp1 NA19057.hp1 NA19079.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0151 others(12): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0151 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0221 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0245	15	169	0.0888	-52	c.421 others(69): Show c.421+3915_421+3966delCTTTCTTTCTTTCTTTCTTTCTTTCTTC CTTTCTTTCTTTCTTTCTTTCTTT	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RSU1_chr10_16585611_16822424	16722855	TATATACA others(45): Show TATATACATATATGTATATATACACACATATACATATATGTATATATACA CAC	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	71	0.0141	-52	c.599 others(71): Show c.599-27752_599-27701delGTGTGTATATATACATATATGTATAT GTGTGTATATATACATATATGTATAT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	7/8			chr10	TogoVar
RTN1_chr14_59590983_59875776	59749154	CTATATCT others(45): Show CTATATCTATCTATATATCTATCTATATATCTATCTATATATATCTATAT ATA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0107 a0004c0006t0001g0107	1	120	0.0083	-52	c.242 others(69): Show c.242-2725_242-2674delTATATATAGATATATATAGATAGATATA TAGATAGATATATAGATAGATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTP3_chr3_46492976_46505950	46505194	CACCTTTT others(45): Show CACCTTTTTTTAAAAAAACTAGAAATGTGAATCCTTCCATTTATGCAATG GAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	424	0.0024	-52	c.42 others(63): Show c.4296_*4347delACCTTTTTTTAAAAAAACTAGAAATGTGAATCCT TCCATTTATGCAATGGAA	RTP3	ENSG00000163825.5	transcript	ENST00000296142.4	protein_coding		4245		chr3	TogoVar
RTP5_chr2_241864729_241878823	241866277	CGGGATGC others(45): Show CGGGATGCTGAGCTGCGCGGGATGCTGAGCTGCGGGGGGATGCTGAGCTG CGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG02109.hp2 HG02145.hp1 others(7): Show HG01099.hp2 HG02109.hp2 HG02145.hp1 HG02486.hp2 HG02723.hp1 HG03098.hp1 HG03130.hp1 HG03540.hp1 NA18522.hp2 NA18906.hp2	a0006 a0007 a0006 a0007	a0006c0006 a0007c0007 a0006c0006 a0007c0007	a0006c0006t0007 a0007c0007t0002 a0007c0007t0006 a0006c0006t0007 a0007c0007t0002 a0007c0007t0006	a0006c0006t0007g0009 a0007c0007t0002g0012 a0007c0007t0006g0012 a0006c0006t0007g0009 a0007c0007t0002g0012 a0007c0007t0006g0012	10	354	0.0282	-52	c.-34 others(63): Show c.-3479_-3428delGGGATGCTGAGCTGCGCGGGATGCTGAGCTGCGG GGGGATGCTGAGCTGCGG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		3451		chr2	TogoVar
RTP5_chr2_241864729_241878823	241875033	CAATCCAG others(45): Show CAATCCAGGGCCTCGGGGGCCAACTGCAGGGACAAAGGTCCAGGAAAAAC CAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp2 others(152): Show HG00099.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01167.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18990.hp1 NA18991.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0008 a0011 a0013 a0014 a0015 a0017 a0018 a0020 a0024	a0001c0001 a0001c0020 a0001c0023 others(14): Show a0001c0001 a0001c0020 a0001c0023 a0001c0025 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0008c0008 a0011c0012 a0013c0013 a0014c0029 a0015c0028 a0017c0015 a0018c0027 a0020c0024 a0024c0018	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(27): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016 a0001c0001t0018 a0001c0001t0034 a0001c0020t0002 a0001c0023t0005 a0001c0025t0005 a0002c0002t0001 a0002c0002t0010 a0002c0002t0014 a0002c0002t0035 a0002c0002t0036 a0002c0002t0037 a0003c0003t0002 a0003c0003t0003 a0003c0003t0040 a0004c0004t0001 a0004c0004t0010 a0005c0005t0005 a0008c0008t0006 a0011c0012t0012 a0013c0013t0001 a0014c0029t0013 a0015c0028t0001 a0017c0015t0018 a0018c0027t0001 a0020c0024t0026 a0024c0018t0009	a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0017 others(40): Show a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0008g0008 a0001c0001t0009g0001 a0001c0001t0016g0001 a0001c0001t0018g0008 a0001c0001t0034g0006 a0001c0020t0002g0001 a0001c0023t0005g0022 a0001c0025t0005g0005 a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0023 a0002c0002t0001g0026 a0002c0002t0010g0002 a0002c0002t0014g0002 a0002c0002t0035g0002 a0002c0002t0036g0002 a0002c0002t0037g0002 a0003c0003t0002g0001 a0003c0003t0002g0010 a0003c0003t0002g0020 a0003c0003t0002g0043 a0003c0003t0003g0001 a0003c0003t0040g0001 a0004c0004t0001g0003 a0004c0004t0001g0016 a0004c0004t0001g0024 a0004c0004t0001g0028 a0004c0004t0001g0031 a0004c0004t0010g0003 a0005c0005t0005g0005 a0008c0008t0006g0011 a0011c0012t0012g0030 a0013c0013t0001g0003 a0014c0029t0013g0001 a0015c0028t0001g0003 a0017c0015t0018g0039 a0018c0027t0001g0003 a0020c0024t0026g0029 a0024c0018t0009g0001	155	364	0.4258	-52	c.17 others(63): Show c.1760_*1811delAATCCAGGGCCTCGGGGGCCAACTGCAGGGACAA AGGTCCAGGAAAAACCAG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1211		chr2	TogoVar
RTP5_chr2_241864729_241878823	241875078	AAAACCAG others(45): Show AAAACCAGAATCCAGGCCTCGGGGGCCCAACTGCAGGGATGAGGGTCCAG GAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 NA19030.hp2 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0031 a0001c0001t0004 a0001c0001t0031	a0001c0001t0004g0006 a0001c0001t0031g0006 a0001c0001t0004g0006 a0001c0001t0031g0006	2	202	0.0099	-52	c.18 others(63): Show c.1805_*1856delAAACCAGAATCCAGGCCTCGGGGGCCCAACTGCA GGGATGAGGGTCCAGGAG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1256		chr2	TogoVar
RUFY1_chr5_179545554_179615012	179577578	TGGGGCTG others(45): Show TGGGGCTGGAGGGGAGGGCGGGGGTGGGGAGTTTCGGCCGAAAGAGCAAA TCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp1 HG02922.hp2 others(6): Show HG01243.hp2 HG02630.hp1 HG02922.hp2 HG03139.hp1 HG03225.hp2 HG03486.hp1 NA18522.hp2 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0198 a0001c0001t0004g0218 a0001c0001t0004g0219 others(6): Show a0001c0001t0004g0198 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0235	9	374	0.0241	-52	c.890 others(67): Show c.890+477_890+528delGGCCGAAAGAGCAAATCCGGGGCTGGAGGG GAGGGCGGGGGTGGGGAGTTTC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
SACS_chr13_23323830_23438702	23416255	CTGGGGGA others(45): Show CTGGGGGACAGAGCCGACTCCATCTCAAAAAAGGAATTCATGAAAAAATG TCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01081.hp2 HG01346.hp1 others(5): Show HG00099.hp1 HG01081.hp2 HG01346.hp1 HG01515.hp2 HG03239.hp2 HG04199.hp1 NA19070.hp2 NA20752.hp1	a0002 a0004 a0016 a0002 a0004 a0016	a0002c0001 a0004c0007 a0016c0027 a0002c0001 a0004c0007 a0016c0027	a0002c0001t0008 a0004c0007t0001 a0016c0027t0001 a0002c0001t0008 a0004c0007t0001 a0016c0027t0001	a0002c0001t0008g0010 a0004c0007t0001g0106 a0004c0007t0001g0109 others(5): Show a0002c0001t0008g0010 a0004c0007t0001g0106 a0004c0007t0001g0109 a0004c0007t0001g0110 a0004c0007t0001g0160 a0004c0007t0001g0189 a0004c0007t0001g0194 a0016c0027t0001g0214	8	376	0.0213	-52	c.-50 others(71): Show c.-501-4567_-501-4516delAGACATTTTTTCATGAATTCCTTTTT TGAGATGGAGTCGGCTCTGTCCCCCA	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	1/9			chr13	TogoVar
SASH1_chr6_148337838_148557044	148387566	CTCTTTCT others(45): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG01074.hp2 others(16): Show HG00323.hp1 HG00609.hp2 HG01074.hp2 HG01256.hp2 HG01258.hp1 HG01891.hp2 HG02148.hp2 HG02273.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG02970.hp2 NA18522.hp2 NA18906.hp1 NA19056.hp1 NA19064.hp2 NA19240.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0001c0015 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0003t0007 a0001c0003t0012 a0001c0009t0014 a0001c0015t0007 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008	a0001c0001t0001g0007 a0001c0001t0001g0033 a0001c0001t0001g0041 others(16): Show a0001c0001t0001g0007 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0002g0024 a0001c0001t0002g0133 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0005g0269 a0001c0001t0007g0298 a0001c0003t0007g0270 a0001c0003t0012g0091 a0001c0003t0012g0102 a0001c0009t0014g0094 a0001c0015t0007g0090 a0002c0002t0001g0111 a0002c0002t0002g0141 a0002c0002t0003g0020 a0002c0002t0004g0278 a0002c0002t0008g0287	19	137	0.1387	-52	c.157 others(69): Show c.157-2493_157-2442delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCARA3_chr8_27628902_27678018	27670683	TCTCAGTG others(45): Show TCTCAGTGTGTGTGCGGAGCTTCTCGAAGCTGGCCAGCCCCTTGTTCCCT AAC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0068 a0002c0002t0004g0068	1	406	0.0025	-52	c.137 others(69): Show c.1370-203_1370-152delCGGAGCTTCTCGAAGCTGGCCAGCCCCT TGTTCCCTAACCTCAGTGTGTGTG	SCARA3	ENSG00000168077.14	transcript	ENST00000301904.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
SCHIP1_chr3_159268244_159902359	159704864	TTTTCTTT others(45): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTATTTCT TTC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02055.hp2 others(3): Show HG01167.hp2 HG01169.hp2 HG02055.hp2 HG02922.hp1 HG03471.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0019 a0001c0001t0001g0072 a0001c0001t0001g0097 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0072 a0001c0001t0001g0097 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030	6	78	0.0769	-52	c.64- others(69): Show c.64-59554_64-59503delTTTCTTTCTTTCTTTCTTTATTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTC	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCN11A_chr3_38840764_39056944	38963372	TATATATA others(45): Show TATATATATATATATGATGGAGATATATATATATATATATATATATGATG GAG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01192.hp2 HG01257.hp2 others(8): Show HG00639.hp2 HG01192.hp2 HG01257.hp2 HG02723.hp2 HG03225.hp1 HG03831.hp2 NA18965.hp1 NA19081.hp1 NA19086.hp2 NA20805.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0003c0004t0001	a0001c0002t0001g0151 a0001c0002t0001g0159 a0001c0002t0001g0160 others(8): Show a0001c0002t0001g0151 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0187 a0001c0002t0001g0235 a0001c0002t0002g0205 a0001c0002t0004g0044 a0003c0004t0001g0206 a0003c0004t0001g0220	11	309	0.0356	-52	c.-27 others(71): Show c.-279-3001_-279-2950delCTCCATCATATATATATATATATATA TATATCTCCATCATATATATATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166078363	AATTTTTT others(45): Show AATTTTTTTCCTAAATTAATTTTCTTCCATTGTATTTTTTCTCTTCTAAA TAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02257.hp2 HG02559.hp2 others(12): Show HG00140.hp1 HG02257.hp2 HG02559.hp2 HG02622.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0006 a0001c0001t0035 a0001c0011t0006 a0001c0001t0006 a0001c0001t0035 a0001c0011t0006	a0001c0001t0006g0158 a0001c0001t0006g0159 a0001c0001t0006g0160 others(12): Show a0001c0001t0006g0158 a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0161 a0001c0001t0006g0163 a0001c0001t0006g0285 a0001c0001t0006g0288 a0001c0001t0006g0289 a0001c0001t0006g0291 a0001c0001t0006g0295 a0001c0001t0006g0298 a0001c0001t0006g0330 a0001c0001t0006g0343 a0001c0001t0035g0290 a0001c0011t0006g0297	15	354	0.0424	-52	c.-14 others(69): Show c.-141-614_-141-563delCTATTTAGAAGAGAAAAAATACAATGGA AGAAAATTAATTTAGGAAAAAAAT	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23333097	GGAAGGAA others(45): Show GGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGG AAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03017.hp1 HG06807.hp1 others(1): Show HG00323.hp1 HG03017.hp1 HG06807.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0033 a0001c0002t0001g0028 a0001c0002t0001g0029 others(1): Show a0001c0001t0001g0033 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0003t0001g0294	4	304	0.0132	-52	c.-8- others(69): Show c.-8-15481_-8-15430delGAGGGAGGGAGGGAGGGAGGGAGGGAGG AAGGAAGGAAAGAAGGAAGGAAGG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1289518	TGCTCCGT others(45): Show TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTG TCC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03195.hp2 NA18747.hp1 others(1): Show HG02896.hp2 HG03195.hp2 NA18747.hp1 NA19005.hp1	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0002 a0003c0004 a0008c0007 a0002c0002 a0003c0004 a0008c0007	a0002c0002t0001 a0003c0004t0003 a0008c0007t0004 a0002c0002t0001 a0003c0004t0003 a0008c0007t0004	a0002c0002t0001g0089 a0003c0004t0003g0136 a0003c0004t0003g0146 others(1): Show a0002c0002t0001g0089 a0003c0004t0003g0136 a0003c0004t0003g0146 a0008c0007t0004g0286	4	286	0.0140	-52	c.166 others(69): Show c.1663-752_1663-701delGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289527	CCGTGTCC others(45): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0007 a0006c0010t0007	a0006c0010t0007g0268 a0006c0010t0007g0268	1	287	0.0035	-52	c.166 others(69): Show c.1663-742_1663-691delGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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