Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
RIOX1_chr14_73485933_73498394	73488910	TACCTGGG others(25): Show TACCTGGGAGGCTGAGGCAGGAGAATCGCTTGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0000 a0003c0002t0001g0000	1	422	0.0024	-32	c.-21 others(43): Show c.-2107_-2076delACCTGGGAGGCTGAGGCAGGAGAATCGCTTGA	RIOX1	ENSG00000170468.8	transcript	ENST00000304061.8	protein_coding		2022		chr14	TogoVar
RIPK4_chr21_41734373_41772052	41744361	GAGCTCAG others(25): Show GAGCTCAGACCCCGCGCCCGCACAGTGCCGGGC	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0146 a0001c0023t0001g0146	1	448	0.0022	-32	c.937 others(47): Show c.937-253_937-222delGCCCGGCACTGTGCGGGCGCGGGGTCTGAG CT	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding	6/7			chr21	TogoVar
RIT2_chr18_42738227_43120685	42837147	CTTTTTCT others(25): Show CTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02451.hp1 others(3): Show HG01884.hp1 HG02258.hp1 HG02451.hp1 HG02559.hp2 HG03471.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0030 a0001c0001t0001g0064 a0001c0001t0001g0079 others(3): Show a0001c0001t0001g0030 a0001c0001t0001g0064 a0001c0001t0001g0079 a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0003g0007	6	240	0.0250	-32	c.426 others(51): Show c.426+86393_426+86424delAAAAAAAAAAAAAAAAAAAAAAAAAA GAAAAA	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	4/4			chr18	TogoVar
RIT2_chr18_42738227_43120685	42905977	AATATATA others(25): Show AATATATATATATATGTATATATATATATACAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	240	0.0042	-32	c.426 others(51): Show c.426+17563_426+17594delATGTATATATATATATACATATATAT ATATAT	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	4/4			chr18	TogoVar
RMDN1_chr8_86467349_86513686	86479743	TCAGCTCT others(25): Show TCAGCTCTGCAGGCTATACTCAAAAGAGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03453.hp2 HG03098.hp1 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0052 a0002c0003t0003g0053 a0002c0003t0003g0052 a0002c0003t0003g0053	2	368	0.0054	-32	c.641 others(47): Show c.641+502_641+533delGGACACTCTTTTGAGTATAGCCTGCAGAGC TG	RMDN1	ENSG00000176623.12	transcript	ENST00000406452.8	protein_coding	6/9			chr8	TogoVar
RMND1_chr6_151399762_151457126	151450564	TCCGGGAG others(25): Show TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03195.hp1 HG02965.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0369 a0001c0004t0007g0370 a0001c0004t0007g0369 a0001c0004t0007g0370	2	392	0.0051	-32	c.-15 others(49): Show c.-15+1420_-15+1451delGCGGGGGGCTGACCCCCCCACCTCCCTC CCGG	RMND1	ENSG00000155906.20	transcript	ENST00000444024.3	protein_coding	1/11			chr6	TogoVar
RMND5B_chr5_178126014_178155568	178155391	AATTTTGT others(25): Show AATTTTGTTTTGCATTAAATAAAAACAAATAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	412	0.0024	-32	c.73 others(43): Show c.7360_*7391delATTTTGTTTTGCATTAAATAAAAACAAATAGG	RMND5B	ENSG00000145916.19	transcript	ENST00000313386.9	protein_coding		4824		chr5	TogoVar
RNF10_chr12_120529356_120582588	120553038	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp1 HG02074.hp1 others(14): Show HG00621.hp1 HG00673.hp1 HG02074.hp1 HG02132.hp2 HG02257.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG03540.hp2 NA18944.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0015 a0001c0001t0001g0085 a0001c0001t0001g0113 others(13): Show a0001c0001t0001g0015 a0001c0001t0001g0085 a0001c0001t0001g0113 a0001c0001t0001g0243 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0289 a0001c0001t0001g0305 a0001c0001t0001g0308 a0002c0002t0001g0284	17	372	0.0457	-32	c.554 others(47): Show c.554+372_554+403delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RNF10	ENSG00000022840.17	transcript	ENST00000325954.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNF144B_chr6_18382350_18473870	18426744	CTTTTTTC others(25): Show CTTTTTTCTATTCAATGTCTTCTCTGGGTTTCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00735.hp2 others(10): Show HG00099.hp1 HG00280.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01256.hp1 HG02257.hp2 HG03669.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0068 a0001c0001t0076 others(2): Show a0001c0001t0010 a0001c0001t0068 a0001c0001t0076 a0001c0001t0087 a0001c0001t0105	a0001c0001t0010g0007 a0001c0001t0010g0235 a0001c0001t0010g0236 others(9): Show a0001c0001t0010g0007 a0001c0001t0010g0235 a0001c0001t0010g0236 a0001c0001t0010g0237 a0001c0001t0010g0238 a0001c0001t0010g0243 a0001c0001t0010g0257 a0001c0001t0010g0279 a0001c0001t0068g0281 a0001c0001t0076g0371 a0001c0001t0087g0119 a0001c0001t0105g0063	13	386	0.0337	-32	c.166 others(47): Show c.166-789_166-758delGTCTTCTCTGGGTTTCATTTTTTCTATTCA AT	RNF144B	ENSG00000137393.10	transcript	ENST00000259939.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF144B_chr6_18382350_18473870	18426792	GTCTTCTC others(25): Show GTCTTCTCTGGGTTTCATTTTTTCTATTCAATT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0106 a0001c0001t0047g0106	1	386	0.0026	-32	c.166 others(47): Show c.166-773_166-742delATTTTTTCTATTCAATTTCTTCTCTGGGTT TC	RNF144B	ENSG00000137393.10	transcript	ENST00000259939.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF144B_chr6_18382350_18473870	18446567	TACTATGG others(25): Show TACTATGGGAAATTGATGTACTGATGCTATGTC	T T	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0037 a0001c0001t0008g0037	1	386	0.0026	-32	c.331 others(49): Show c.331+6824_331+6855delACTATGGGAAATTGATGTACTGATGCTA TGTC	RNF144B	ENSG00000137393.10	transcript	ENST00000259939.4	protein_coding	4/7			chr6	TogoVar
RNF17_chr13_24759169_24884921	24882133	GATAGATA others(25): Show GATAGATACATCTATATAGATAGATACATCTAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	426	0.0024	-32	c.24 others(43): Show c.2408_*2439delATAGATACATCTATATAGATAGATACATCTAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2213		chr13	TogoVar
RNF220_chr1_44400255_44656723	44502052	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00642.hp1 others(25): Show HG00099.hp1 HG00438.hp1 HG00642.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01346.hp2 HG01361.hp2 HG01516.hp2 HG02004.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02145.hp2 HG02280.hp2 HG02293.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02735.hp2 HG03654.hp1 NA18522.hp2 NA18959.hp2 NA19081.hp2 NA19084.hp1 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014	a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0032 others(25): Show a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0135 a0001c0001t0001g0149 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0209 a0001c0001t0002g0068 a0001c0001t0003g0043 a0001c0001t0006g0011 a0001c0001t0010g0116 a0001c0001t0014g0143 a0001c0001t0014g0144	28	218	0.1284	-32	c.625 others(51): Show c.625+89347_625+89378delACACACACACACACACACACACACAC ACACAC	RNF220	ENSG00000187147.19	transcript	ENST00000361799.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF24_chr20_3922311_4020558	4013574	GGAGTTCA others(25): Show GGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCC	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0247 a0001c0001t0012g0247	1	362	0.0028	-32	c.-8+ others(47): Show c.-8+1831_-8+1862delGGGAGGCTGAGGCAGGAGAATCGCTTGAAC TC	RNF24	ENSG00000101236.17	transcript	ENST00000358395.11	protein_coding	1/5			chr20	TogoVar
RNF38_chr9_36331400_36405269	36341793	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18906.hp2 HG02723.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0005 a0001c0001t0010	a0001c0001t0005g0013 a0001c0001t0010g0012 a0001c0001t0005g0013 a0001c0001t0010g0012	2	402	0.0050	-32	c.148 others(49): Show c.1485+500_1485+531delATATATATATATATATATATATATATAT ATAT	RNF38	ENSG00000137075.18	transcript	ENST00000259605.11	protein_coding	11/11			chr9	TogoVar
RNF38_chr9_36331400_36405269	36378012	AACTTAAA others(25): Show AACTTAAAAAAAAAGGTAAATAACCACTGAAAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0013	1	402	0.0025	-32	c.163 others(49): Show c.163-1917_163-1886delATTTCAGTGGTTATTTACCTTTTTTTTT AAGT	RNF38	ENSG00000137075.18	transcript	ENST00000259605.11	protein_coding	2/11			chr9	TogoVar
RNFT2_chr12_116733315_116858631	116750859	TTATATAT others(25): Show TTATATATATATAATATATATATTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02486.hp1 HG02809.hp1 others(3): Show HG01175.hp2 HG02486.hp1 HG02809.hp1 HG02886.hp2 HG03195.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0005 a0001c0002t0008 a0001c0011t0023 others(2): Show a0001c0002t0005 a0001c0002t0008 a0001c0011t0023 a0001c0011t0039 a0001c0011t0053	a0001c0002t0005g0003 a0001c0002t0005g0064 a0001c0002t0008g0140 others(3): Show a0001c0002t0005g0003 a0001c0002t0005g0064 a0001c0002t0008g0140 a0001c0011t0023g0007 a0001c0011t0039g0012 a0001c0011t0053g0011	6	268	0.0224	-32	c.550 others(47): Show c.550+553_550+584delTATATATATATAATATATATATTATATATA TA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	4/10			chr12	TogoVar
RNFT2_chr12_116733315_116858631	116841850	TATATAAA others(25): Show TATATAAAAATATATATATAAATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp1 HG02071.hp1 others(6): Show HG01074.hp2 HG01109.hp1 HG02071.hp1 HG02280.hp2 HG02559.hp2 HG03209.hp2 HG03471.hp2 NA18906.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0014 a0001c0001t0069 a0001c0002t0002 others(2): Show a0001c0001t0014 a0001c0001t0069 a0001c0002t0002 a0001c0002t0010 a0001c0003t0002	a0001c0001t0014g0037 a0001c0001t0069g0068 a0001c0002t0002g0108 others(6): Show a0001c0001t0014g0037 a0001c0001t0069g0068 a0001c0002t0002g0108 a0001c0002t0002g0159 a0001c0002t0002g0174 a0001c0002t0010g0132 a0001c0003t0002g0100 a0001c0003t0002g0101 a0001c0003t0002g0102	9	268	0.0336	-32	c.120 others(51): Show c.1200+5574_1200+5605delAAAATATATATATAAATATATATATA AATATA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNLS_chr10_88279102_88588318	88581297	TATATATA others(25): Show TATATATATATATATATATACATCTATAATATC	T T	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	232	0.0043	-32	c.367 others(47): Show c.367+238_367+269delGATATTATAGATGTATATATATATATATAT AT	RNLS	ENSG00000184719.13	transcript	ENST00000331772.9	protein_coding	3/6			chr10	TogoVar
ROBO1_chr3_78592239_79772998	78711428	TTTCTTTC others(25): Show TTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03579.hp1 HG02280.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0001 a0001c0002t0004g0017 a0001c0002t0004g0001 a0001c0002t0004g0017	2	44	0.0455	-32	c.104 others(51): Show c.1045+2937_1045+2968delGGAAGGAAGGAAGGAAGGAAAGAAAG AAAGAA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	8/30			chr3	TogoVar
ROR1_chr1_63769017_64186498	63846118	ATGTGTGT others(25): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0066 a0001c0001t0019g0066	1	96	0.0104	-32	c.91+ others(49): Show c.91+71632_91+71663delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
RORA_chr15_60483284_61234302	60597565	TATATATA others(25): Show TATATATATACACATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02886.hp2 HG02897.hp1 others(2): Show HG02280.hp2 HG02886.hp2 HG02897.hp1 HG03834.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0003 a0001c0002t0021 others(1): Show a0001c0001t0007 a0001c0002t0003 a0001c0002t0021 a0001c0002t0055	a0001c0001t0007g0028 a0001c0002t0003g0013 a0001c0002t0003g0080 others(2): Show a0001c0001t0007g0028 a0001c0002t0003g0013 a0001c0002t0003g0080 a0001c0002t0021g0091 a0001c0002t0055g0106	5	118	0.0424	-32	c.197 others(51): Show c.197-65746_197-65715delGTGTATATATATATATATATGTGTAT ATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61040113	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp2 HG02647.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0052 a0001c0005t0004 a0001c0001t0052 a0001c0005t0004	a0001c0001t0052g0002 a0001c0005t0004g0107 a0001c0001t0052g0002 a0001c0005t0004g0107	2	118	0.0170	-32	c.166 others(53): Show c.166+188908_166+188939delATATATATATATATATATATATAT ATATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORB_chr9_74492335_74698177	74549531	GGGAGGGA others(25): Show GGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0085 a0001c0001t0019g0085	1	226	0.0044	-32	c.7+5 others(47): Show c.7+51552_7+51583delGGGAGGGAGGGAGGGAAGGAAGGAAGGAAG GA	RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RORB_chr9_74492335_74698177	74549535	GGGAGGGA others(25): Show GGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02976.hp1 HG03098.hp2 others(9): Show HG02723.hp2 HG02976.hp1 HG03098.hp2 HG03710.hp2 HG04184.hp1 NA18939.hp2 NA18965.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA19064.hp1 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0051 a0002c0003t0001	a0001c0001t0001g0167 a0001c0001t0001g0176 a0001c0001t0001g0182 others(9): Show a0001c0001t0001g0167 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0002g0084 a0001c0001t0010g0143 a0001c0001t0010g0225 a0001c0001t0051g0204 a0002c0003t0001g0194	12	226	0.0531	-32	c.7+5 others(47): Show c.7+51556_7+51587delGGGAGGGAGGGAAGGAAGGAAGGAAGGAAG GA	RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RORB_chr9_74492335_74698177	74549539	GGGAGGGA others(25): Show GGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01255.hp1 HG01891.hp1 others(10): Show HG01192.hp1 HG01255.hp1 HG01891.hp1 HG02647.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03017.hp2 HG03041.hp1 HG03209.hp1 HG03453.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0021 a0001c0001t0036 a0001c0001t0040 a0001c0001t0052	a0001c0001t0001g0131 a0001c0001t0003g0023 a0001c0001t0007g0099 others(10): Show a0001c0001t0001g0131 a0001c0001t0003g0023 a0001c0001t0007g0099 a0001c0001t0007g0136 a0001c0001t0012g0211 a0001c0001t0013g0051 a0001c0001t0020g0137 a0001c0001t0020g0138 a0001c0001t0021g0002 a0001c0001t0021g0111 a0001c0001t0036g0149 a0001c0001t0040g0021 a0001c0001t0052g0147	13	226	0.0575	-32	c.7+5 others(47): Show c.7+51560_7+51591delGGGAGGGAAGGAAGGAAGGAAGGAAGGAAG GA	RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RP2_chrX_46832043_46887358	46836336	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02886.hp2 HG00639.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0187 a0001c0001t0004g0035 a0001c0001t0001g0187 a0001c0001t0004g0035	2	274	0.0073	-32	c.-76 others(41): Show c.-764_-733delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding		706		chrX	TogoVar
RPH3AL_chr17_207389_357807	307330	CACGGCAG others(25): Show CACGGCAGGTCCTCCCCGCGGCAGGTCCATCCT	C C	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0056 a0001c0001t0011g0056	1	133	0.0075	-32	c.351 others(51): Show c.351+12058_351+12089delAGGATGGACCTGCCGCGGGGAGGACC TGCCGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPL26_chr17_8372516_8388193	8381820	TCGGGAGG others(25): Show TCGGGAGGCTGAGGCAGGAGAATCGCCTGAACC	T T	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	422	0.0024	-32	c.168 others(47): Show c.168+291_168+322delGGTTCAGGCGATTCTCCTGCCTCAGCCTCC CG	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding	2/3			chr17	TogoVar
RPP40_chr6_4989717_5009037	5000848	ATGCAGAA others(25): Show ATGCAGAAGACCAAGCATGCAGAAGACAAAGCT	A A	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA20300.hp2 NA18955.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0004 a0001c0001t0001 a0003c0004t0004	a0001c0001t0001g0103 a0003c0004t0004g0128 a0001c0001t0001g0103 a0003c0004t0004g0128	2	360	0.0056	-32	c.269 others(47): Show c.269-249_269-218delAGCTTTGTCTTCTGCATGCTTGGTCTTCTG CA	RPP40	ENSG00000124787.14	transcript	ENST00000380051.7	protein_coding	2/7			chr6	TogoVar
RPRD2_chr1_150359147_150481566	150428916	TCTGTTGA others(25): Show TCTGTTGAACATCCTAGCAATTCTATAAGGTCG	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0244 a0001c0001t0044g0244	1	318	0.0031	-32	c.335 others(51): Show c.335+11210_335+11241delATTCTATAAGGTCGCTGTTGAACATC CTAGCA	RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS13_chr11_17069388_17082667	17075373	CAAACCAG others(25): Show CAAACCAGATGCATTACATTTTACCGAAAAAAT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	408	0.0025	-32	c.321 others(45): Show c.321+49_321+80delATTTTTTCGGTAAAATGTAATGCATCTGGTTT	RPS13	ENSG00000110700.7	transcript	ENST00000525634.6	protein_coding	4/5			chr11	TogoVar
RPS24_chr10_78028863_78045697	78031543	AAAAAATA others(25): Show AAAAAATATATATATATATATATATAGATATAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02258.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0024 a0001c0001t0001g0041	2	430	0.0047	-32	c.-23 others(43): Show c.-2358_-2327delAAAAATATATATATATATATATATAGATATAG	RPS24	ENSG00000138326.21	transcript	ENST00000372360.9	protein_coding		2319		chr10	TogoVar
RPS6KA2_chr6_166404364_166632251	166465107	CATTGGGT others(25): Show CATTGGGTGAAGTACCCAGGCAGAAATCTAGTG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0146 a0001c0025t0001g0146	1	244	0.0041	-32	c.972 others(49): Show c.972+4702_972+4733delCACTAGATTTCTGCCTGGGTACTTCACC CAAT	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	11/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166510554	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02145.hp2 HG02258.hp2 others(2): Show HG02080.hp1 HG02145.hp2 HG02258.hp2 HG02896.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0025 others(2): Show a0001c0001 a0001c0003 a0001c0025 a0001c0032 a0001c0043	a0001c0001t0001 a0001c0003t0046 a0001c0025t0001 others(2): Show a0001c0001t0001 a0001c0003t0046 a0001c0025t0001 a0001c0032t0004 a0001c0043t0015	a0001c0001t0001g0088 a0001c0003t0046g0021 a0001c0025t0001g0146 others(2): Show a0001c0001t0001g0088 a0001c0003t0046g0021 a0001c0025t0001g0146 a0001c0032t0004g0032 a0001c0043t0015g0220	5	244	0.0205	-32	c.299 others(47): Show c.299-229_299-198delATATATATATATATATATATATATATATAT AT	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	3/20			chr6	TogoVar
RPS6KA3_chrX_20144911_20271909	20255680	TGGGAGGC others(25): Show TGGGAGGCAGAGGCAGGAGAATCACTTGAACCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01167.hp1 others(34): Show HG00639.hp2 HG00735.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01346.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01981.hp2 HG02055.hp1 HG02257.hp1 HG02293.hp1 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG03130.hp1 HG03225.hp1 HG03239.hp1 HG03927.hp2 HG04199.hp1 NA18522.hp1 NA18957.hp2 NA18965.hp1 NA18979.hp1 NA19002.hp1 NA19005.hp1 NA19030.hp1 NA19067.hp1 NA19085.hp1 NA19091.hp1 NA20752.hp1	a0000 a0001 a0000 a0001	a0000c0005 a0001c0001 a0001c0002 a0000c0005 a0001c0001 a0001c0002	a0000c0005t0030 a0001c0001t0001 a0001c0002t0001 others(4): Show a0000c0005t0030 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0014 a0001c0002t0031	a0000c0005t0030g0073 a0001c0001t0001g0062 a0001c0002t0001g0050 others(34): Show a0000c0005t0030g0073 a0001c0001t0001g0062 a0001c0002t0001g0050 a0001c0002t0002g0010 a0001c0002t0002g0023 a0001c0002t0002g0039 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0064 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0177 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0189 a0001c0002t0003g0041 a0001c0002t0003g0061 a0001c0002t0003g0086 a0001c0002t0014g0009 a0001c0002t0031g0053	37	212	0.1745	-32	c.69+ others(49): Show c.69+10852_69+10883delGGGTTCAAGTGATTCTCCTGCCTCTGCC TCCC	RPS6KA3	ENSG00000177189.14	transcript	ENST00000379565.9	protein_coding	1/21			chrX	TogoVar
RPS6KA5_chr14_90842861_91065641	91044355	GAAAGAAA others(25): Show GAAAGAAAGAGAAAGAAAGAAGGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18906.hp2 NA18992.hp2 HG02717.hp1 NA18906.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0158 a0001c0001t0001 a0001c0001t0023 a0001c0001t0158	a0001c0001t0001g0136 a0001c0001t0023g0156 a0001c0001t0158g0144 a0001c0001t0001g0136 a0001c0001t0023g0156 a0001c0001t0158g0144	3	306	0.0098	-32	c.103 others(51): Show c.103+15945_103+15976delTTCTTTCTTTCCTTCTTTCTTTCTCT TTCTTT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	1/16			chr14	TogoVar
RPS6KA5_chr14_90842861_91065641	91044360	AAAGAGAA others(25): Show AAAGAGAAAGAAAGAAGGAAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03130.hp2 HG01106.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0050 a0001c0001t0005 a0001c0001t0050	a0001c0001t0005g0298 a0001c0001t0050g0299 a0001c0001t0005g0298 a0001c0001t0050g0299	2	306	0.0065	-32	c.103 others(51): Show c.103+15940_103+15971delCTTCTTTCTTTCTTTCCTTCTTTCTT TCTCTT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	1/16			chr14	TogoVar
RPS6KB1_chr17_59888121_59955574	59909226	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01255.hp2 HG01258.hp1 others(8): Show HG00140.hp2 HG01255.hp2 HG01258.hp1 HG01891.hp2 HG01975.hp2 HG02109.hp2 HG02559.hp1 HG03540.hp1 NA18967.hp2 NA18978.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0267 a0001c0001t0004g0219 a0001c0001t0004g0229 others(8): Show a0001c0001t0003g0267 a0001c0001t0004g0219 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0280 a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0004g0291 a0001c0001t0004g0293 a0001c0001t0004g0296	11	304	0.0362	-32	c.142 others(49): Show c.142-1308_142-1277delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RPS6KB1	ENSG00000108443.14	transcript	ENST00000225577.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPS6KC1_chr1_213046241_213279774	213119425	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG01433.hp1 others(5): Show HG00408.hp1 HG00609.hp1 HG01433.hp1 HG02080.hp2 HG03098.hp1 NA18952.hp2 NA18960.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0011 a0002c0002t0001 a0002c0002t0011	a0002c0002t0001g0247 a0002c0002t0001g0251 a0002c0002t0001g0257 others(5): Show a0002c0002t0001g0247 a0002c0002t0001g0251 a0002c0002t0001g0257 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0266 a0002c0002t0001g0269 a0002c0002t0011g0253	8	330	0.0242	-32	c.472 others(49): Show c.472+2058_472+2089delATATATATATATATATATATATATATAT ATAT	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KC1_chr1_213046241_213279774	213122507	CTAAATCT others(25): Show CTAAATCTATTTTCAAGACAAACTTAAAGTCTA	C C	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	330	0.0030	-32	c.472 others(49): Show c.472+5099_472+5130delAAATCTATTTTCAAGACAAACTTAAAGT CTAT	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS9_chr19_54195858_54212647	54211419	AGGGCGTC others(25): Show AGGGCGTCCTCGGTCCCCAGCTGAGCTTAGACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	457	0.0022	-32	c.38 others(43): Show c.3845_*3876delGGGCGTCCTCGGTCCCCAGCTGAGCTTAGACT	RPS9	ENSG00000170889.14	transcript	ENST00000302907.9	protein_coding		3773		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80634674	CTGTGTGT others(25): Show CTGTGTGTGCGTACTGTGTGCGTGTGCGTACTG	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0007 a0001c0038t0007	a0001c0038t0007g0178 a0001c0038t0007g0178	1	196	0.0051	-32	c.265 others(49): Show c.265+8901_265+8932delCGTGTGCGTACTGTGTGTGTGCGTACTG TGTG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRBP1_chr20_17608679_17687242	17682501	AGCGGCGC others(25): Show AGCGGCGCGGCGCTCGGCCGTGCGCGGGGCGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02970.hp1 others(1): Show HG02109.hp2 HG02257.hp1 HG02970.hp1 HG03516.hp1	a0010 a0023 a0053 a0010 a0023 a0053	a0010c0020 a0023c0072 a0053c0076 a0010c0020 a0023c0072 a0053c0076	a0010c0020t0002 a0023c0072t0002 a0053c0076t0002 a0010c0020t0002 a0023c0072t0002 a0053c0076t0002	a0010c0020t0002g0296 a0010c0020t0002g0297 a0023c0072t0002g0281 others(1): Show a0010c0020t0002g0296 a0010c0020t0002g0297 a0023c0072t0002g0281 a0053c0076t0002g0298	4	350	0.0114	-32	c.-60 others(41): Show c.-604_-573delCCCGCCCCGCGCACGGCCGAGCGCCGCGCCGC	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding		260		chr20	TogoVar
RSF1_chr11_77655009_77825722	77671122	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03139.hp1 HG02559.hp2 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0005 a0001c0002t0016g0008 a0001c0002t0016g0005 a0001c0002t0016g0008	2	352	0.0057	-32	c.375 others(49): Show c.3751+888_3751+919delATATATATATATATATTTTTTTTTTTTT TTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	15/15			chr11	TogoVar
RSF1_chr11_77655009_77825722	77671124	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18989.hp2 NA18967.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0030 a0001c0002t0003g0072 a0001c0002t0003g0030 a0001c0002t0003g0072	2	352	0.0057	-32	c.375 others(49): Show c.3751+886_3751+917delATATATATATATATATATTTTTTTTTTT TTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	15/15			chr11	TogoVar
RSF1_chr11_77655009_77825722	77671126	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0073 a0001c0002t0003g0073	1	352	0.0028	-32	c.375 others(49): Show c.3751+884_3751+915delATATATATATATATATATATTTTTTTTT TTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	15/15			chr11	TogoVar
RSPH10B2_chr7_6749103_6803765	6776900	CACACACA others(25): Show CACACACACACACACACACACACACACAAAAGG	C C	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0072 a0002c0006t0001g0072	1	108	0.0093	-32	c.141 others(49): Show c.1414+355_1414+386delACACACACACACACACACACACACACAA AAGG	RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	12/20			chr7	TogoVar
RSPH14_chr22_23054415_23146990	23130059	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp1 HG01257.hp2 others(15): Show HG00280.hp1 HG00673.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01891.hp2 HG02055.hp2 HG02145.hp2 HG02559.hp1 HG02602.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03098.hp2 HG04228.hp1 HG06807.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0006 a0001c0001 a0003c0004 a0004c0006	a0001c0001t0001 a0003c0004t0001 a0004c0006t0002 a0001c0001t0001 a0003c0004t0001 a0004c0006t0002	a0001c0001t0001g0002 a0001c0001t0001g0148 a0001c0001t0001g0158 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0148 a0001c0001t0001g0158 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0263 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0289 a0003c0004t0001g0178 a0004c0006t0002g0009	18	314	0.0573	-32	c.421 others(49): Show c.421+3935_421+3966delCTTTCTTCCTTTCTTTCTTTCTTTCTTT CTTT	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RSPH1_chr21_42467486_42501224	42477192	CCCCACAG others(25): Show CCCCACAGCCCGGGGATGCCCCACACCCTCTGT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01074.hp2 others(38): Show HG00735.hp1 HG00735.hp2 HG01074.hp2 HG01099.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01943.hp2 HG01978.hp2 HG02055.hp1 HG02071.hp1 HG02132.hp1 HG02280.hp1 HG02486.hp1 HG02602.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03139.hp1 HG03471.hp2 HG03486.hp2 HG04228.hp2 NA18522.hp1 NA18906.hp2 NA18944.hp2 NA18945.hp2 NA18953.hp2 NA18959.hp2 NA18967.hp2 NA19010.hp1 NA19087.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0004t0001 a0002c0003t0001 a0004c0008t0001	a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0146 others(35): Show a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0193 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0309 a0001c0001t0001g0317 a0001c0001t0001g0359 a0001c0001t0002g0032 a0001c0001t0002g0152 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0246 a0001c0001t0002g0284 a0001c0001t0002g0296 a0001c0001t0002g0333 a0001c0001t0002g0353 a0001c0001t0003g0196 a0001c0001t0003g0236 a0001c0001t0004g0155 a0001c0001t0004g0170 a0001c0001t0004g0205 a0001c0001t0005g0315 a0001c0001t0006g0179 a0001c0002t0001g0090 a0001c0002t0001g0137 a0001c0002t0002g0101 a0001c0002t0002g0106 a0001c0002t0002g0113 a0001c0002t0002g0211 a0001c0002t0004g0141 a0001c0004t0001g0357 a0002c0003t0001g0330 a0002c0003t0001g0347 a0004c0008t0001g0298	41	408	0.1005	-32	c.727 others(45): Show c.727+67_727+98delACAGAGGGTGTGGGGCATCCCCGGGCTGTGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar

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