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
RAB44_chr6_36692826_36738184	36734321	GAGAGAGA others(40): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG03491.hp1 HG00735.hp2 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0298 a0001c0002t0003g0312 a0001c0002t0003g0298 a0001c0002t0003g0312	2	392	0.0051	-47	c.22 others(58): Show c.2229_*2275delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGA	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding		1138		chr6	TogoVar
RADIL_chr7_4792055_4888716	4887348	ATAACTAA others(40): Show ATAACTAATACCCCTTATCCAGAAAGATCTTCCTGTCTCCTAGACCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0057 a0005c0003t0057	a0005c0003t0057g0204 a0005c0003t0057g0204	1	290	0.0034	-47	c.-38 others(58): Show c.-3864_-3818delCAGGTCTAGGAGACAGGAAGATCTTTCTGGATAA GGGGTATTAGTTA	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		3633		chr7	TogoVar
RARS1_chr5_168481471_168524301	168486811	CCTGGCAT others(40): Show CCTGGCATGTTCAGAACAGTTCTCTCCCTACAATCCACCTCCTCTTCT	C C	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0143	1	392	0.0026	-47	c.45+ others(60): Show c.45+269_45+315delCTGGCATGTTCAGAACAGTTCTCTCCCTACAA TCCACCTCCTCTTCT	RARS1	ENSG00000113643.9	transcript	ENST00000231572.8	protein_coding	1/14			chr5	TogoVar
RASA3_chr13_113972783_114137623	113974168	TGCAGGCC others(40): Show TGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG04115.hp2 HG02258.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0002 a0001c0001t0001 a0001c0010t0002	a0001c0001t0001g0043 a0001c0010t0002g0052 a0001c0001t0001g0043 a0001c0010t0002g0052	2	63	0.0317	-47	c.51 others(58): Show c.5132_*5178delGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCC AGCCCCGGCCTGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding		3614		chr13	TogoVar
RASAL1_chr12_113094278_113140761	113101656	GCTCCAGG others(40): Show GCTCCAGGTATTAAAAGATCCCAAGACCCAGTTCTGCATAAGGGACCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(3): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG01358.hp2 HG03209.hp1 HG04184.hp2	a0002 a0003 a0002 a0003	a0002c0006 a0002c0018 a0002c0025 others(1): Show a0002c0006 a0002c0018 a0002c0025 a0003c0010	a0002c0006t0004 a0002c0018t0004 a0002c0025t0004 others(1): Show a0002c0006t0004 a0002c0018t0004 a0002c0025t0004 a0003c0010t0007	a0002c0006t0004g0089 a0002c0006t0004g0195 a0002c0006t0004g0201 others(3): Show a0002c0006t0004g0089 a0002c0006t0004g0195 a0002c0006t0004g0201 a0002c0018t0004g0041 a0002c0025t0004g0103 a0003c0010t0007g0029	6	314	0.0191	-47	c.222 others(64): Show c.2225+186_2225+232delGGGTCCCTTATGCAGAACTGGGTCTTGG GATCTTTTAATACCTGGAG	RASAL1	ENSG00000111344.12	transcript	ENST00000548055.2	protein_coding	19/20			chr12	TogoVar
RB1CC1_chr8_52617458_52719435	52698669	GGTTTTTT others(40): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0005 a0002c0014t0005	a0002c0014t0005g0277 a0002c0014t0005g0277	1	4	0.2500	-47	c.-16 others(68): Show c.-166-11749_-166-11703delAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAC	RB1CC1	ENSG00000023287.13	transcript	ENST00000025008.10	protein_coding	1/23			chr8	TogoVar
RBFOX1_chr16_6014024_7718340	6487689	AAAAAAAA others(40): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	66	0.0152	-47	c.-63 others(68): Show c.-63-166912_-63-166866delAAAAAAAAAAATATATATATATAT ATATATATATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7008659	TCCTCCCT others(40): Show TCCTCCCTCCCTCCCTTCCTCCTCCCTTCCTCCCTCCCTCCCTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp2 HG03139.hp2 others(3): Show HG02559.hp2 HG02622.hp2 HG03139.hp2 HG03471.hp1 HG03540.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 others(3): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 a0001c0001t0036 a0001c0001t0037 a0001c0002t0038	a0001c0001t0003g0006 a0001c0001t0006g0038 a0001c0001t0023g0047 others(3): Show a0001c0001t0003g0006 a0001c0001t0006g0038 a0001c0001t0023g0047 a0001c0001t0036g0032 a0001c0001t0037g0029 a0001c0002t0038g0023	6	51	0.1176	-47	c.-15 others(66): Show c.-15-43386_-15-43340delCCCTTCCTCCTCCCTTCCTCCCTCCC TCCCTTCCTCCCTCCCTCCCT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBM19_chr12_113817057_113971325	113850044	CTTTCCTT others(40): Show CTTTCCTTCCAACCCTCCTCTTGGCCTAAGGGAGATGACAGTTCTGGG	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0314 a0001c0001t0003g0314	1	354	0.0028	-47	c.266 others(66): Show c.2665-5303_2665-5257delCCCAGAACTGTCATCTCCCTTAGGCC AAGAGGAGGGTTGGAAGGAAA	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	22/23			chr12	TogoVar
RELL1_chr4_37605634_37691376	37653324	CTCAATAC others(40): Show CTCAATACAAGTATTGAAACCTCAATACAAGTATTGAAACCTCAATAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03017.hp2 HG04199.hp2 others(1): Show HG02622.hp2 HG03017.hp2 HG04199.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0025 a0001c0001t0058	a0001c0001t0001g0312 a0001c0001t0006g0136 a0001c0001t0025g0013 others(1): Show a0001c0001t0001g0312 a0001c0001t0006g0136 a0001c0001t0025g0013 a0001c0001t0058g0239	4	322	0.0124	-47	c.89- others(62): Show c.89-3871_89-3825delATATTGAGGTTTCAATACTTGTATTGAGGT TTCAATACTTGTATTGA	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	1/6			chr4	TogoVar
RELL1_chr4_37605634_37691376	37669187	GGGGGGTC others(40): Show GGGGGGTCAGCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp1 HG02258.hp2 others(12): Show HG01243.hp1 HG01255.hp1 HG02258.hp2 HG02486.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02895.hp1 HG02922.hp2 HG03041.hp1 HG03195.hp2 HG03225.hp2 HG03516.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0025 a0001c0001t0047 a0001c0006t0023	a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0025 others(12): Show a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0248 a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0257 a0001c0001t0018g0019 a0001c0001t0018g0028 a0001c0001t0025g0013 a0001c0001t0047g0014 a0001c0006t0023g0024	15	322	0.0466	-47	c.88+ others(64): Show c.88+16966_88+17012delACCTCCCTCCCGGACGGGGCGGCTGGCC AGGCAGGGGGCTGACCCCC	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	1/6			chr4	TogoVar
RELL1_chr4_37605634_37691376	37669220	GTCCGGGA others(40): Show GTCCGGGAGGGAGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0002 a0001c0001t0016g0002	2	322	0.0062	-47	c.88+ others(64): Show c.88+16933_88+16979delTGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCACCTCCCTCCCGGA	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	1/6			chr4	TogoVar
REM1_chr20_31470288_31489895	31471317	CCCCCCCA others(40): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02145.hp1 HG02451.hp1 others(8): Show HG01109.hp1 HG02145.hp1 HG02451.hp1 HG02630.hp2 HG02896.hp1 HG03486.hp2 HG03579.hp2 HG06807.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0003 a0002c0002t0001g0068 a0002c0002t0001g0069 others(1): Show a0002c0002t0001g0003 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0004g0010	11	342	0.0322	-47	c.-42 others(58): Show c.-4268_-4222delCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGCTGA	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		3970		chr20	TogoVar
REM1_chr20_31470288_31489895	31471356	GGGGGCTG others(40): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	342	0.0029	-47	c.-42 others(58): Show c.-4229_-4183delGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGC	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		3931		chr20	TogoVar
RERE_chr1_8347404_8822640	8501616	GGGGGGTC others(40): Show GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0014 a0001c0019t0014	a0001c0019t0014g0123 a0001c0019t0014g0123	1	202	0.0050	-47	c.880 others(64): Show c.880-4134_880-4088delACCTCCCTCCCGGACTGGGCGGCTGGCC GGGCGGGGGGCTGACCCCC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
REV3L_chr6_111294033_111488218	111303671	CTTTTTTT others(40): Show CTTTTTTTTTTTTTTTTTAACAGACTATGACTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG04115.hp2 HG01496.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0224 a0002c0002t0001g0229 a0002c0002t0001g0224 a0002c0002t0001g0229	2	145	0.0138	-47	c.925 others(66): Show c.9253-3562_9253-3516delAAAAAAAAAAAAAAAAAGTCATAGTC TGTTAAAAAAAAAAAAAAAAA	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	31/31			chr6	TogoVar
RGS19_chr20_64068181_64084518	64074614	GGCAGGCA others(40): Show GGCAGGCACCTGACACACATGGGCACCCACTGCAGGAGGGCAGCCCCT	G G	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18967.hp1 NA19060.hp1 others(2): Show NA18963.hp2 NA18967.hp1 NA19060.hp1 NA19078.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	5	388	0.0129	-47	c.153 others(61): Show c.153-120_153-74delAGGGGCTGCCCTCCTGCAGTGGGTGCCCATG TGTGTCAGGTGCCTGC	RGS19	ENSG00000171700.14	transcript	ENST00000395042.2	protein_coding	3/5			chr20	TogoVar
RGS3_chr9_113458727_113602738	113487024	TGTTAATA others(40): Show TGTTAATAACAATAGCAATTGCTGACTGGGTGCTGACCTGGAGCCAGG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02698.hp2 HG02055.hp1 HG02698.hp2	a0001 a0001	a0001c0018 a0001c0019 a0001c0018 a0001c0019	a0001c0018t0001 a0001c0019t0001 a0001c0018t0001 a0001c0019t0001	a0001c0018t0001g0139 a0001c0019t0001g0092 a0001c0018t0001g0139 a0001c0019t0001g0092	2	166	0.0120	-47	c.353 others(64): Show c.353+1333_353+1379delTTAATAACAATAGCAATTGCTGACTGGG TGCTGACCTGGAGCCAGGG	RGS3	ENSG00000138835.24	transcript	ENST00000695401.1	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr9	TogoVar
RGSL1_chr1_182445146_182565597	182497316	GATATATA others(40): Show GATATATATATTATATATATATATTTTTATATCTCCTGATATAAAAAT	G G	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0111 a0003c0003t0002g0111	1	336	0.0030	-47	c.182 others(66): Show c.1825+4198_1825+4244delTATATATATATATTTTTATATCTCCT GATATAAAAATATATATATAT	RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
RHOC_chr1_112696131_112712127	112706430	TACACACA others(40): Show TACACACACACACACACACACACACACACACACACCACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	415	0.0024	-47	c.-77 others(62): Show c.-77+601_-77+647delGTGTGTGTGTGTGGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGT	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RIMBP2_chr12_130391133_130721299	130498098	GGTCATTC others(40): Show GGTCATTCTCCATGAAGGCAGCACTGACTCCAGGCCTCCGGCTGCCCC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp1 HG00741.hp1 others(34): Show HG00544.hp1 HG00639.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG02083.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp2 HG02683.hp1 HG02683.hp2 HG02818.hp1 HG03139.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp1 NA18522.hp1 NA18950.hp1 NA18979.hp1 NA18980.hp2 NA18986.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0018	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0019 a0001c0028 a0002c0009 a0002c0033 a0003c0039 a0005c0015 a0006c0017 a0018c0037	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0011t0001 a0001c0019t0001 a0001c0028t0001 a0002c0009t0001 a0002c0033t0008 a0003c0039t0001 a0005c0015t0001 a0006c0017t0001 a0018c0037t0001	a0001c0001t0001g0029 a0001c0001t0001g0103 a0001c0001t0001g0119 others(34): Show a0001c0001t0001g0029 a0001c0001t0001g0103 a0001c0001t0001g0119 a0001c0001t0002g0031 a0001c0001t0002g0064 a0001c0001t0002g0084 a0001c0002t0001g0046 a0001c0002t0001g0051 a0001c0002t0001g0065 a0001c0002t0001g0168 a0001c0002t0001g0177 a0001c0002t0002g0007 a0001c0002t0002g0017 a0001c0002t0002g0044 a0001c0003t0001g0077 a0001c0003t0001g0086 a0001c0003t0001g0116 a0001c0003t0001g0136 a0001c0005t0001g0047 a0001c0005t0001g0085 a0001c0005t0001g0099 a0001c0006t0001g0039 a0001c0006t0001g0081 a0001c0007t0001g0132 a0001c0008t0001g0137 a0001c0008t0001g0153 a0001c0011t0001g0125 a0001c0019t0001g0023 a0001c0028t0001g0114 a0002c0009t0001g0147 a0002c0033t0008g0166 a0003c0039t0001g0144 a0005c0015t0001g0066 a0005c0015t0001g0139 a0006c0017t0001g0055 a0006c0017t0001g0056 a0018c0037t0001g0002	37	158	0.2342	-47	c.-4+ others(62): Show c.-4+8503_-4+8549delGGGGCAGCCGGAGGCCTGGAGTCAGTGCTG CCTTCATGGAGAATGAC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641321	ATCACGGG others(40): Show ATCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0125 a0001c0011t0001g0125	1	169	0.0059	-47	c.-35 others(68): Show c.-351-12912_-351-12866delAGCCGGGCCGAGTGTCCGGCAGTC ACCATCCTAAATCCAGCCCGTGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641368	TTCACGGG others(40): Show TTCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02970.hp1 HG03098.hp1 others(2): Show HG01243.hp1 HG02970.hp1 HG03098.hp1 HG03225.hp1 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0024 a0001c0032 others(2): Show a0001c0004 a0001c0024 a0001c0032 a0001c0049 a0002c0029	a0001c0004t0001 a0001c0024t0001 a0001c0032t0001 others(2): Show a0001c0004t0001 a0001c0024t0001 a0001c0032t0001 a0001c0049t0001 a0002c0029t0001	a0001c0004t0001g0001 a0001c0024t0001g0170 a0001c0032t0001g0026 others(2): Show a0001c0004t0001g0001 a0001c0024t0001g0170 a0001c0032t0001g0026 a0001c0049t0001g0169 a0002c0029t0001g0012	5	154	0.0325	-47	c.-35 others(68): Show c.-351-12959_-351-12913delTGCCGGGCCGAGTGTCCGGCAGTC ACCATCCTAAATCCAGCCCGTGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RNASE10_chr14_20500537_20518884	20506628	CCCCCCGC others(40): Show CCCCCCGCCTGGCCAGCCGCCCAGTCCAGGAGGGAGGTGGGGGGTCAG	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0136 a0001c0001t0074g0136	1	394	0.0025	-47	c.-6+ others(60): Show c.-6+615_-6+661delGCCTGGCCAGCCGCCCAGTCCAGGAGGGAGGT GGGGGGTCAGCCCCC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF126_chr19_642526_668214	667299	TCCCAGGC others(40): Show TCCCAGGCGGACCACGTCCCAGGCGGACCACGTCCCAGGCGGACCAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(59): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp2 HG00639.hp1 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01516.hp1 HG01517.hp2 HG01943.hp2 HG02040.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02148.hp2 HG02300.hp1 HG02922.hp1 HG02965.hp1 HG03225.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18950.hp1 NA18954.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18972.hp2 NA18973.hp1 NA18978.hp2 NA18984.hp2 NA18997.hp1 NA18999.hp2 NA19001.hp2 NA19081.hp1 NA19083.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0004t0004	a0001c0001t0001g0018 a0001c0001t0001g0129 a0001c0001t0001g0139 others(54): Show a0001c0001t0001g0018 a0001c0001t0001g0129 a0001c0001t0001g0139 a0001c0001t0001g0264 a0001c0001t0001g0322 a0001c0001t0001g0345 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0388 a0001c0001t0007g0017 a0001c0001t0009g0379 a0001c0002t0001g0001 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0285 a0001c0002t0001g0291 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0323 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0332 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0001g0337 a0001c0002t0001g0341 a0001c0002t0001g0342 a0001c0002t0001g0343 a0001c0002t0001g0344 a0001c0002t0001g0359 a0001c0002t0001g0371 a0001c0002t0001g0378 a0001c0004t0004g0338 a0001c0004t0004g0365 a0001c0004t0004g0366 a0001c0004t0004g0370 a0001c0004t0004g0372 a0001c0004t0004g0376 a0001c0004t0004g0377	62	432	0.1435	-47	c.-42 others(58): Show c.-4225_-4179delCTTGGTCCGCCTGGGACGTGGTCCGCCTGGGACG TGGTCCGCCTGGG	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		4086		chr19	TogoVar
RNF126_chr19_642526_668214	667353	CGGACCAC others(40): Show CGGACCACGTCCCAGGCGGACCACGTCCCAGGCGGACCAAGCCCAGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02258.hp1 others(19): Show HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 NA18522.hp1 NA18522.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0270 a0001c0001t0001g0362 a0001c0001t0002g0006 others(18): Show a0001c0001t0001g0270 a0001c0001t0001g0362 a0001c0001t0002g0006 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0002t0001g0269 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0042	22	405	0.0543	-47	c.-42 others(58): Show c.-4279_-4233delACCTGGGCTTGGTCCGCCTGGGACGTGGTCCGCC TGGGACGTGGTCC	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		4140		chr19	TogoVar
RNF150_chr4_140854807_141138469	140892673	CTCCTTCC others(40): Show CTCCTTCCCCCTGGGGAGGGATGTCGGCGACTTCTTGGCCTCACAAGT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02055.hp1 HG02145.hp1 others(16): Show HG01261.hp1 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02723.hp1 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 others(12): Show a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0050 a0001c0001t0061 a0001c0001t0069 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0080 a0001c0001t0082 a0001c0006t0033 a0002c0002t0079	a0001c0001t0009g0021 a0001c0001t0014g0095 a0001c0001t0014g0150 others(16): Show a0001c0001t0009g0021 a0001c0001t0014g0095 a0001c0001t0014g0150 a0001c0001t0015g0031 a0001c0001t0016g0135 a0001c0001t0016g0139 a0001c0001t0019g0024 a0001c0001t0019g0049 a0001c0001t0019g0096 a0001c0001t0050g0083 a0001c0001t0061g0082 a0001c0001t0069g0047 a0001c0001t0072g0039 a0001c0001t0074g0040 a0001c0001t0075g0166 a0001c0001t0080g0034 a0001c0001t0082g0118 a0001c0006t0033g0176 a0002c0002t0079g0173	19	182	0.1044	-47	c.119 others(68): Show c.1198+18424_1198+18470delACTTGTGAGGCCAAGAAGTCGCCG ACATCCCTCCCCAGGGGGAAGGA	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	6/6			chr4	TogoVar
RNF150_chr4_140854807_141138469	140935028	TTATAATA others(40): Show TTATAATATATATATATAAATATATATATTATATATATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01884.hp1 HG02451.hp1 others(3): Show HG01261.hp1 HG01884.hp1 HG02451.hp1 HG02723.hp1 HG02886.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0001c0001t0014 a0001c0001t0037 others(3): Show a0001c0001t0009 a0001c0001t0014 a0001c0001t0037 a0001c0001t0069 a0001c0001t0073 a0002c0002t0079	a0001c0001t0009g0021 a0001c0001t0014g0095 a0001c0001t0037g0151 others(3): Show a0001c0001t0009g0021 a0001c0001t0014g0095 a0001c0001t0037g0151 a0001c0001t0069g0047 a0001c0001t0073g0020 a0002c0002t0079g0173	6	107	0.0561	-47	c.891 others(64): Show c.891-9002_891-8956delTATATATTATATATATATAATATATATA TTTATATATATATATTATA	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	4/6			chr4	TogoVar
RNF157_chr17_76137474_76245493	76182810	GATATATA others(40): Show GATATATATCCTATATATCCTATATATGATATATAGGATATATAGGAT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0027 a0001c0004t0003g0027	1	231	0.0043	-47	c.208 others(64): Show c.208-9067_208-9021delATCCTATATATCCTATATATCATATATA GGATATATAGGATATATAT	RNF157	ENSG00000141576.16	transcript	ENST00000269391.11	protein_coding	2/18			chr17	TogoVar
RNF7_chr3_141733298_141752560	141746299	TTTTAGGT others(40): Show TTTTAGGTAACATGTTAATGAGGGAAAATGTTTACCAGTGTAGCATTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0056 a0001c0001t0033g0056	1	382	0.0026	-47	c.10 others(58): Show c.1023_*1069delTTTAGGTAACATGTTAATGAGGGAAAATGTTTAC CAGTGTAGCATTG	RNF7	ENSG00000114125.14	transcript	ENST00000273480.4	protein_coding	3/3	1023		chr3	TogoVar
ROBO1_chr3_78592239_79772998	78637062	TTACAATG others(40): Show TTACAATGGTAAAAATGTCATTATTTTATGCATGTTGTCCAAAAGTGG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp2 HG02717.hp1 others(5): Show HG01243.hp2 HG02109.hp2 HG02717.hp1 HG03130.hp1 HG03139.hp1 HG03486.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0002t0016 a0001c0005t0002 a0001c0005t0005	a0001c0001t0002g0039 a0001c0001t0005g0005 a0001c0001t0005g0035 others(5): Show a0001c0001t0002g0039 a0001c0001t0005g0005 a0001c0001t0005g0035 a0001c0001t0010g0034 a0001c0002t0016g0044 a0001c0005t0002g0029 a0001c0005t0002g0030 a0001c0005t0005g0004	8	44	0.1818	-47	c.303 others(65): Show c.3038-1001_3038-955delCCACTTTTGGACAACATGCATAAAATA ATGACATTTTTACCATTGTA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	22/30			chr3	TogoVar
RORA_chr15_60483284_61234302	60947033	CCCGGCCA others(40): Show CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGCCAGCCCCCGA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG01168.hp2 others(19): Show HG00735.hp1 HG01099.hp1 HG01168.hp2 HG01169.hp1 HG01257.hp1 HG01257.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG02004.hp2 HG02055.hp2 HG02165.hp1 HG02258.hp1 HG02451.hp2 HG02647.hp1 HG02723.hp2 HG02738.hp2 HG03209.hp2 HG03486.hp2 HG03669.hp1 NA19003.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(14): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0032 a0001c0001t0034 a0001c0001t0038 a0001c0001t0042 a0001c0001t0052 a0001c0003t0015 a0001c0003t0027 a0001c0005t0004	a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0058 others(19): Show a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0005g0019 a0001c0001t0006g0029 a0001c0001t0007g0057 a0001c0001t0008g0033 a0001c0001t0016g0050 a0001c0001t0016g0051 a0001c0001t0017g0014 a0001c0001t0020g0040 a0001c0001t0022g0117 a0001c0001t0032g0037 a0001c0001t0034g0056 a0001c0001t0038g0044 a0001c0001t0042g0112 a0001c0001t0052g0002 a0001c0003t0015g0077 a0001c0003t0027g0039 a0001c0005t0004g0024 a0001c0005t0004g0107	22	118	0.1864	-47	c.167 others(68): Show c.167-268394_167-268348delTCGGGGGCTGGCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGG	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60947048	CGTCCGGG others(40): Show CGTCCGGGAGGGAGGTGGGGGGCCAGCCCCCGACCGGCCAGCCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0009 a0001c0001t0039g0009	1	118	0.0085	-47	c.167 others(68): Show c.167-268409_167-268363delAGGGCGGCTGGCCGGTCGGGGGCT GGCCCCCCACCTCCCTCCCGGAC	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPH3AL_chr17_207389_357807	299990	CAGGGGCT others(40): Show CAGGGGCTGGCCCAGCCTAGGCCTGCAGAATCTCCCACCCACTCTAGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG01167.hp2 others(8): Show HG00099.hp2 HG00140.hp2 HG01167.hp2 HG01243.hp2 HG01258.hp2 HG02055.hp2 HG02622.hp1 HG02723.hp1 HG02723.hp2 HG02976.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0016 a0001c0001t0022 a0001c0001t0027 a0001c0001t0031 a0001c0002t0006 a0001c0002t0029	a0001c0001t0001g0089 a0001c0001t0001g0114 a0001c0001t0002g0116 others(8): Show a0001c0001t0001g0089 a0001c0001t0001g0114 a0001c0001t0002g0116 a0001c0001t0006g0105 a0001c0001t0009g0094 a0001c0001t0016g0093 a0001c0001t0022g0071 a0001c0001t0027g0118 a0001c0001t0031g0067 a0001c0002t0006g0060 a0001c0002t0029g0103	11	115	0.0957	-47	c.352 others(66): Show c.352-18183_352-18137delTCTAGAGTGGGTGGGAGATTCTGCAG GCCTAGGCTGGGCCAGCCCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	300682	GCTCTAGC others(40): Show GCTCTAGCAGGGGCTGGCCCAGCCTAGACCTGCAGAATCTCTCACCCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG01070.hp2 others(1): Show HG00280.hp1 HG00408.hp1 HG01070.hp2 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0009	a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0128 others(1): Show a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0002t0009g0126	4	132	0.0303	-47	c.351 others(66): Show c.351+18691_351+18737delTGGGTGAGAGATTCTGCAGGTCTAGG CTGGGCCAGCCCCTGCTAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	300768	CACCCGCT others(40): Show CACCCGCTCTAGCAGGGGCTGGCCCAGCCTAGGCCCGCAGAATCTCTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01358.hp1 HG02055.hp2 others(4): Show HG01243.hp2 HG01358.hp1 HG02055.hp2 HG02622.hp1 HG02723.hp1 HG02723.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0022 a0001c0001t0027 a0001c0001t0031 a0001c0002t0006	a0001c0001t0001g0089 a0001c0001t0003g0096 a0001c0001t0006g0105 others(4): Show a0001c0001t0001g0089 a0001c0001t0003g0096 a0001c0001t0006g0105 a0001c0001t0022g0071 a0001c0001t0027g0118 a0001c0001t0031g0067 a0001c0002t0006g0060	7	132	0.0530	-47	c.351 others(66): Show c.351+18605_351+18651delAAGAGATTCTGCGGGCCTAGGCTGGG CCAGCCCCTGCTAGAGCGGGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	321694	ACAAGGCA others(40): Show ACAAGGCACATGGGCAACAGAGACGGCCCAGGTGCCGTGTGCAGGGGG	A A	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19074.hp2 NA19004.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0005 a0001c0001t0012g0006 a0001c0001t0012g0005 a0001c0001t0012g0006	2	132	0.0152	-47	c.78- others(60): Show c.78-326_78-280delCCCCCTGCACACGGCACCTGGGCCGTCTCTGT TGCCCATGTGCCTTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	3/9			chr17	TogoVar
RPS6KA2_chr6_166404364_166632251	166449803	GGGACCAC others(40): Show GGGACCACCATGGGAACCACCACAGGGACCACCACGGGACAACCACGA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0001 a0001c0056t0001	a0001c0056t0001g0155 a0001c0056t0001g0155	1	206	0.0049	-47	c.120 others(65): Show c.1207-1001_1207-955delTCGTGGTTGTCCCGTGGTGGTCCCTGT GGTGGTTCCCATGGTGGTCC	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	13/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166618996	AATCGATG others(40): Show AATCGATGCCATCAGATTCGCGCACCAGCCCTGTGCATATGGGCTCCC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02922.hp1 others(2): Show HG02055.hp2 HG02451.hp1 HG02922.hp1 HG03225.hp1 HG03453.hp1	a0001 a0001	a0001c0015 a0001c0018 a0001c0030 others(1): Show a0001c0015 a0001c0018 a0001c0030 a0001c0036	a0001c0015t0004 a0001c0018t0006 a0001c0018t0019 others(2): Show a0001c0015t0004 a0001c0018t0006 a0001c0018t0019 a0001c0030t0017 a0001c0036t0002	a0001c0015t0004g0049 a0001c0018t0006g0052 a0001c0018t0019g0051 others(2): Show a0001c0015t0004g0049 a0001c0018t0006g0052 a0001c0018t0019g0051 a0001c0030t0017g0053 a0001c0036t0002g0050	5	242	0.0207	-47	c.99+ others(62): Show c.99+7878_99+7924delGGGAGCCCATATGCACAGGGCTGGTGCGCG AATCTGATGGCATCGAT	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	1/20			chr6	TogoVar
RRAS2_chr11_14272922_14364183	14274253	AAAGCCCA others(40): Show AAAGCCCAAGATGACACTTACAATCTGGCCCTTTATGAAAAAATTTGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0183 a0001c0002t0001g0183	1	278	0.0036	-47	c.50 others(58): Show c.5037_*5083delGCAAATTTTTTCATAAAGGGCCAGATTGTAAGTG TCATCTTGGGCTT	RRAS2	ENSG00000133818.14	transcript	ENST00000256196.9	protein_coding		3668		chr11	TogoVar
SCARF1_chr17_1628858_1650732	1638588	TCCATCAC others(40): Show TCCATCACCTCTGACCTACGTGGGCGACAAGGCCAGCCCTCCCCACCC	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	400	0.0025	-47	c.136 others(64): Show c.1364+171_1364+217delGGGTGGGGAGGGCTGGCCTTGTCGCCCA CGTAGGTCAGAGGTGATGG	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	8/10			chr17	TogoVar
SCGB3A2_chr5_147873711_147887191	147886224	AGAGATCC others(40): Show AGAGATCCTTATGAGGACAGAAATATTCTGTGTTTTACCTGTATCAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	-47	c.41 others(58): Show c.4175_*4221delGAGATCCTTATGAGGACAGAAATATTCTGTGTTT TACCTGTATCAAT	SCGB3A2	ENSG00000164265.9	transcript	ENST00000296694.5	protein_coding		4034		chr5	TogoVar
SCML4_chr6_107697154_107829313	107803367	TGGGAGGG others(40): Show TGGGAGGGAGGTGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCCATCC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18957.hp2 NA18973.hp2 others(1): Show HG00544.hp1 NA18957.hp2 NA18973.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0003 a0001c0002t0009 a0001c0005t0011 others(1): Show a0001c0001t0003 a0001c0002t0009 a0001c0005t0011 a0001c0005t0030	a0001c0001t0003g0081 a0001c0002t0009g0079 a0001c0005t0011g0082 others(1): Show a0001c0001t0003g0081 a0001c0002t0009g0079 a0001c0005t0011g0082 a0001c0005t0030g0080	4	248	0.0161	-47	c.-60 others(66): Show c.-60+20712_-60+20758delGGATGGGGCGGCTGGCCGGGCGAGGG GCTGACCCCCACCTCCCTCCC	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCNN1B_chr16_23297302_23386294	23385995	CCCACCAC others(40): Show CCCACCACCAAGCCCAGATAATTTTTAAAAATTTTTTATAGAGATGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	304	0.0033	-47	c.51 others(58): Show c.5195_*5241delCCACCACCAAGCCCAGATAATTTTTAAAAATTTT TTATAGAGATGAG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding		4702		chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1289843	CCGTGTCC others(40): Show CCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02818.hp2 HG02683.hp1 HG02818.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0230 a0002c0003t0002g0087 a0001c0001t0001g0230 a0002c0003t0002g0087	2	278	0.0072	-47	c.166 others(64): Show c.1663-426_1663-380delGTGTCCGTCCCCCGAGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43280971	CCTGTCAC others(40): Show CCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0004 a0005c0016t0021 a0005c0016t0004 a0005c0016t0021	a0005c0016t0004g0021 a0005c0016t0021g0020 a0005c0016t0004g0021 a0005c0016t0021g0020	2	277	0.0072	-47	c.484 others(66): Show c.484+10028_484+10074delAAGGGTGGCCAAGGGAGGTGACAGGG TGACTGAGGAGGAGGTGACAG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SDF2_chr17_28643346_28666906	28661583	GTTCTCCG others(40): Show GTTCTCCGACTCTCTAGACCTGAGGAACCTTCCCAGGGAACCCCTAAC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0186 a0003c0005t0004g0186	1	396	0.0025	-47	c.151 others(61): Show c.151+96_151+142delGTTAGGGGTTCCCTGGGAAGGTTCCTCAGGT CTAGAGAGTCGGAGAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding	1/2			chr17	TogoVar
SEC24C_chr10_73739372_73777161	73749471	ATAAGATA others(40): Show ATAAGATAATACTAATCTGATGCTGTTCTAGGTTCAGTGTTTGGCTTT	A A	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0096 a0001c0002t0002g0096	1	320	0.0031	-47	c.173 others(64): Show c.173-1633_173-1587delGATAATACTAATCTGATGCTGTTCTAGG TTCAGTGTTTGGCTTTTAA	SEC24C	ENSG00000176986.16	transcript	ENST00000345254.9	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
SENP1_chr12_48037897_48111079	48100840	TGGTTATA others(40): Show TGGTTATAAGGATTAAATGAACCAATATATTTTAAATACTTAGAACAG	T T	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0313 a0001c0001t0002g0313	1	392	0.0026	-47	c.4+5 others(58): Show c.4+582_4+628delCTGTTCTAAGTATTTAAAATATATTGGTTCATTT AATCCTTATAACC	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	2/17			chr12	TogoVar
SEPHS1_chr10_13312428_13353293	13325899	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGACTCAGTCTC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02630.hp2 others(3): Show HG02257.hp1 HG02451.hp1 HG02630.hp2 HG02896.hp1 HG03195.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0044 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0044 a0001c0001t0001g0084 a0001c0001t0001g0181	6	376	0.0160	-47	c.751 others(64): Show c.751+2405_751+2451delGAGACTGAGTCTCTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	SEPHS1	ENSG00000086475.15	transcript	ENST00000327347.10	protein_coding	7/8			chr10	TogoVar

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