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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
RPH3AL_chr17_207389_357807	243423	CCCTTCCT others(10): Show CCCTTCCTCTATTGATTA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0088 a0001c0003t0028g0088	1	133	0.0075	-17	c.613 others(34): Show c.613+3671_613+3687delTAATCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	243526	CCTTTCCT others(10): Show CCTTTCCTCTATTGATTA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18983.hp1 HG00408.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0110 a0001c0001t0003g0081 a0001c0001t0001g0110 a0001c0001t0003g0081	2	133	0.0150	-17	c.613 others(34): Show c.613+3568_613+3584delTAATCAATAGAGGAAAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	243650	CCCTTCCT others(10): Show CCCTTCCTCTATTGACTA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02818.hp1 HG03453.hp1 HG02723.hp1 HG02818.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0027 a0001c0001t0001 a0001c0001t0006 a0001c0001t0027	a0001c0001t0001g0043 a0001c0001t0006g0120 a0001c0001t0027g0118 a0001c0001t0001g0043 a0001c0001t0006g0120 a0001c0001t0027g0118	3	133	0.0226	-17	c.613 others(34): Show c.613+3444_613+3460delTAGTCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	243913	TTGATTAC others(10): Show TTGATTACCTTCCTCTAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 NA18983.hp1 others(1): Show HG00408.hp1 HG00544.hp1 NA18983.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0004t0001	a0001c0001t0001g0110 a0001c0001t0003g0081 a0001c0001t0012g0005 others(1): Show a0001c0001t0001g0110 a0001c0001t0003g0081 a0001c0001t0012g0005 a0001c0004t0001g0048	4	133	0.0301	-17	c.613 others(34): Show c.613+3181_613+3197delGTAGAGGAAGGTAATCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3A_chr12_112786748_112903881	112786969	GCCTGCCC others(10): Show GCCTGCCCACATTCCTTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0151 a0001c0002t0151	a0001c0002t0151g0160 a0001c0002t0151g0160	1	266	0.0038	-17	c.-51 others(28): Show c.-5182_-5166delCCTGCCCACATTCCTTA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding		4778		chr12	TogoVar
RPL10_chrX_154393377_154407332	154407218	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01891.hp2 HG02145.hp1 others(17): Show HG00642.hp1 HG01891.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG06807.hp1 NA18522.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0021 a0002c0002t0002 a0002c0002t0004 a0002c0002t0021	a0002c0002t0002g0004 a0002c0002t0004g0002 a0002c0002t0004g0007 others(2): Show a0002c0002t0002g0004 a0002c0002t0004g0002 a0002c0002t0004g0007 a0002c0002t0004g0009 a0002c0002t0021g0020	20	276	0.0725	-17	c.63 others(28): Show c.6365_*6381delTTTTTTTTTTTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		4887		chrX	TogoVar
RPL14_chr3_40452339_40473587	40457510	GGCCCTTC others(10): Show GGCCCTTCCCGGACTCGC	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03540.hp2 NA19006.hp2 HG02071.hp1 HG03540.hp2 NA19006.hp2	a0002 a0004 a0009 a0002 a0004 a0009	a0002c0002 a0004c0004 a0009c0008 a0002c0002 a0004c0004 a0009c0008	a0002c0002t0008 a0004c0004t0055 a0009c0008t0001 a0002c0002t0008 a0004c0004t0055 a0009c0008t0001	a0002c0002t0008g0042 a0004c0004t0055g0041 a0009c0008t0001g0040 a0002c0002t0008g0042 a0004c0004t0055g0041 a0009c0008t0001g0040	3	418	0.0072	-17	c.3+5 others(26): Show c.3+54_3+70delGCCCTTCCCGGACTCGC	RPL14	ENSG00000188846.14	transcript	ENST00000396203.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPL17_chr18_49483481_49497465	49484148	ATATATAT others(10): Show ATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02602.hp2 HG02293.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0001 a0001c0001t0001g0031	2	445	0.0045	-17	c.43 others(28): Show c.4354_*4370delATATATATATATATATA	RPL17	ENSG00000265681.8	transcript	ENST00000580261.6	protein_coding		4332		chr18	TogoVar
RPL22_chr1_6180020_6204595	6190044	TGATTAAG others(10): Show TGATTAAGGCACCTTCCC	T T	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	372	0.0027	-17	c.242 others(34): Show c.242+2869_242+2885delGGGAAGGTGCCTTAATC	RPL22	ENSG00000116251.11	transcript	ENST00000234875.9	protein_coding	3/3			chr1	TogoVar
RPL26_chr17_8372516_8388193	8384050	CGTGTGTG others(10): Show CGTGTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	422	0.0024	-17	c.-91 others(26): Show c.-916_-900delCACACACACACACACAC	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		858		chr17	TogoVar
RPL41_chr12_56111633_56122967	56116148	AAAAAGAA others(10): Show AAAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02630.hp2 HG03041.hp2 others(1): Show HG02145.hp1 HG02630.hp2 HG03041.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	4	352	0.0114	-17	c.-63 others(26): Show c.-639_-623delAAAAGAAAGAAAGAAAG	RPL41	ENSG00000229117.9	transcript	ENST00000546591.6	protein_coding		484		chr12	TogoVar
RPL6_chr12_112400189_112414605	112401840	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp2 others(117): Show HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01071.hp2 HG01081.hp2 HG01123.hp2 HG01256.hp1 HG01258.hp1 HG01433.hp1 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02717.hp2 HG02809.hp2 HG03017.hp2 HG03041.hp1 HG03239.hp1 HG04204.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18997.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0017 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0003t0001g0015	120	406	0.2956	-17	c.33 others(28): Show c.3367_*3383delTTTTTTTTTTTTTTTTT	RPL6	ENSG00000089009.16	transcript	ENST00000202773.14	protein_coding		3348		chr12	TogoVar
RPL6_chr12_112400189_112414605	112410554	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG02257.hp2 HG02717.hp1 others(2): Show HG01943.hp2 HG02257.hp2 HG02717.hp1 HG02809.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0022 a0001c0001t0001g0001 a0002c0002t0001g0022	5	406	0.0123	-17	c.-98 others(26): Show c.-985_-969delAAAAAAAAAAAAAAAAA	RPL6	ENSG00000089009.16	transcript	ENST00000202773.14	protein_coding		950		chr12	TogoVar
RPL8_chr8_144784769_144797390	144789036	ACCTCACC others(10): Show ACCTCACCTGTCACTATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	414	0.0024	-17	c.75 others(26): Show c.751_*767delGATAGTGACAGGTGAGG	RPL8	ENSG00000161016.18	transcript	ENST00000528957.6	protein_coding		732		chr8	TogoVar
RPLP0_chr12_120191699_120206111	120202435	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	372	0.0027	-17	c.-14 others(28): Show c.-1418_-1402delAAAAAAAAAAAAAAAAA	RPLP0	ENSG00000089157.16	transcript	ENST00000392514.9	protein_coding		1325		chr12	TogoVar
RPN1_chr3_128614969_128655818	128651029	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	388	0.0026	-17	c.-24 others(26): Show c.-246_-230delAAAAAAAAAAAAAAAAA	RPN1	ENSG00000163902.12	transcript	ENST00000296255.8	protein_coding		212		chr3	TogoVar
RPRD1B_chr20_38028746_38097364	38096404	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	384	0.0026	-17	c.65 others(28): Show c.6530_*6546delAAAAAAAATATATATAT	RPRD1B	ENSG00000101413.12	transcript	ENST00000373433.9	protein_coding		4041		chr20	TogoVar
RPRD1B_chr20_38028746_38097364	38096406	AAAAAAAT others(10): Show AAAAAAATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	384	0.0026	-17	c.65 others(28): Show c.6532_*6548delAAAAAATATATATATAT	RPRD1B	ENSG00000101413.12	transcript	ENST00000373433.9	protein_coding		4043		chr20	TogoVar
RPRD2_chr1_150359147_150481566	150387567	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0037 a0001c0002t0003g0037	1	318	0.0031	-17	c.205 others(36): Show c.205+22673_205+22689delTTTTTTTTTTTTTTTTT	RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS20_chr8_56068054_56079506	56068807	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	331	0.0030	-17	c.42 others(28): Show c.4266_*4282delAAAAAAAAAAAAAAAAA	RPS20	ENSG00000008988.11	transcript	ENST00000009589.8	protein_coding		4246		chr8	TogoVar
RPS28_chr19_8316496_8328340	8318663	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02922.hp2 HG03130.hp2 others(1): Show HG02109.hp2 HG02922.hp2 HG03130.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0005 a0001c0001t0007g0005	4	404	0.0099	-17	c.-28 others(28): Show c.-2867_-2851delAAAAAAAAAAAAAAAAA	RPS28	ENSG00000233927.5	transcript	ENST00000600659.3	protein_coding		2832		chr19	TogoVar
RPS6KA2_chr6_166404364_166632251	166407594	TGCTGTTT others(10): Show TGCTGTTTGCTGGGCCTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0116 a0001c0002t0002g0116	1	244	0.0041	-17	c.51 others(28): Show c.5151_*5167delTAGGCCCAGCAAACAGC	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding		1769		chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166568621	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01256.hp2 HG01258.hp2 others(25): Show HG01123.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG02071.hp2 HG02109.hp2 HG02257.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02630.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 NA18522.hp1 NA18906.hp1 NA18951.hp2 NA18959.hp1 NA18974.hp1 NA19043.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0019 a0001c0021 a0001c0022 a0001c0034 a0001c0035 a0001c0036 a0001c0038 a0001c0046 a0001c0052 a0001c0062	a0001c0001t0036 a0001c0002t0002 a0001c0003t0001 others(20): Show a0001c0001t0036 a0001c0002t0002 a0001c0003t0001 a0001c0006t0037 a0001c0007t0001 a0001c0007t0006 a0001c0008t0001 a0001c0009t0001 a0001c0010t0005 a0001c0010t0008 a0001c0010t0014 a0001c0011t0001 a0001c0019t0021 a0001c0021t0002 a0001c0021t0009 a0001c0022t0004 a0001c0034t0025 a0001c0035t0024 a0001c0036t0002 a0001c0038t0018 a0001c0046t0004 a0001c0052t0004 a0001c0062t0040	a0001c0001t0036g0198 a0001c0002t0002g0110 a0001c0003t0001g0033 others(25): Show a0001c0001t0036g0198 a0001c0002t0002g0110 a0001c0003t0001g0033 a0001c0003t0001g0063 a0001c0006t0037g0122 a0001c0007t0001g0193 a0001c0007t0006g0221 a0001c0008t0001g0181 a0001c0009t0001g0152 a0001c0009t0001g0177 a0001c0009t0001g0218 a0001c0009t0001g0219 a0001c0010t0005g0190 a0001c0010t0008g0151 a0001c0010t0014g0223 a0001c0011t0001g0127 a0001c0019t0021g0072 a0001c0021t0002g0137 a0001c0021t0009g0095 a0001c0021t0009g0096 a0001c0022t0004g0071 a0001c0034t0025g0005 a0001c0035t0024g0006 a0001c0036t0002g0051 a0001c0038t0018g0002 a0001c0046t0004g0154 a0001c0052t0004g0148 a0001c0062t0040g0144	28	244	0.1148	-17	c.100 others(36): Show c.100-29854_100-29838delTTTTTTTTTTTTTTTTT	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	1/20			chr6	TogoVar
RPS6KA3_chrX_20144911_20271909	20255789	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18953.hp1 NA18962.hp1 others(1): Show HG02135.hp1 NA18953.hp1 NA18962.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0026	4	212	0.0189	-17	c.69+ others(34): Show c.69+10758_69+10774delTTTTTTTTTTTTTTTTT	RPS6KA3	ENSG00000177189.14	transcript	ENST00000379565.9	protein_coding	1/21			chrX	TogoVar
RPS6KA5_chr14_90842861_91065641	90885552	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02135.hp2 NA18998.hp1 HG01106.hp2 HG02135.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0050 a0001c0001t0060 a0001c0001t0033 a0001c0001t0050 a0001c0001t0060	a0001c0001t0033g0029 a0001c0001t0050g0299 a0001c0001t0060g0142 a0001c0001t0033g0029 a0001c0001t0050g0299 a0001c0001t0060g0142	3	306	0.0098	-17	c.183 others(36): Show c.1836+4918_1836+4934delTTTTTTTTTTTTTTTTT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	14/16			chr14	TogoVar
RPS6KA5_chr14_90842861_91065641	91062559	ATATATAT others(10): Show ATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG03704.hp2 HG03927.hp1 HG00642.hp1 HG03704.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0192 a0001c0001t0193 a0001c0001t0214 a0001c0001t0192 a0001c0001t0193 a0001c0001t0214	a0001c0001t0192g0010 a0001c0001t0193g0009 a0001c0001t0214g0086 a0001c0001t0192g0010 a0001c0001t0193g0009 a0001c0001t0214g0086	3	306	0.0098	-17	c.-21 others(28): Show c.-2142_-2126delATATATATATATATATA	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding		1919		chr14	TogoVar
RPS6KA5_chr14_90842861_91065641	91062594	TATATATA others(10): Show TATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG03225.hp1 others(1): Show HG02615.hp1 HG02622.hp2 HG03225.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0221 a0001c0001t0237 a0001c0001t0011 a0001c0001t0221 a0001c0001t0237	a0001c0001t0011g0239 a0001c0001t0011g0240 a0001c0001t0221g0238 others(1): Show a0001c0001t0011g0239 a0001c0001t0011g0240 a0001c0001t0221g0238 a0001c0001t0237g0237	4	306	0.0131	-17	c.-21 others(28): Show c.-2177_-2161delTATATATATATATATAT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding		1954		chr14	TogoVar
RPS6KA6_chrX_84053350_84193199	84151123	TATATATA others(10): Show TATATATAGATATATAGG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02976.hp1 HG01884.hp2 HG01891.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0146 a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0146	3	272	0.0110	-17	c.259 others(34): Show c.259-3017_259-3001delCCTATATATCTATATAT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	3/21			chrX	TogoVar
RPS6KB1_chr17_59888121_59955574	59909226	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02698.hp2 HG02723.hp2 others(1): Show HG02451.hp2 HG02698.hp2 HG02723.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0175 others(1): Show a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0175 a0001c0001t0001g0207	4	304	0.0132	-17	c.142 others(34): Show c.142-1293_142-1277delTTTTTTTTTTTTTTTTT	RPS6KB1	ENSG00000108443.14	transcript	ENST00000225577.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPS6KB2_chr11_67423494_67440401	67427073	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00558.hp2 others(46): Show HG00140.hp2 HG00558.hp1 HG00558.hp2 HG01109.hp2 HG01169.hp2 HG01928.hp1 HG01981.hp2 HG02015.hp1 HG02135.hp2 HG02165.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03486.hp1 HG03654.hp1 NA18522.hp2 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18946.hp2 NA18950.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18970.hp2 NA18975.hp1 NA18983.hp2 NA18985.hp1 NA18995.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19011.hp2 NA19030.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19060.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19083.hp1 NA19084.hp2 NA19088.hp2 NA19089.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0002 a0002c0002t0003 a0005c0006t0002 a0002c0002t0002 a0002c0002t0003 a0005c0006t0002	a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0005 others(8): Show a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0013 a0002c0002t0002g0028 a0002c0002t0003g0003 a0002c0002t0003g0012 a0002c0002t0003g0030 a0002c0002t0003g0036 a0002c0002t0003g0040 a0005c0006t0002g0003	49	378	0.1296	-17	c.-14 others(28): Show c.-1472_-1456delTTTTTTTTTTTTTTTTT	RPS6KB2	ENSG00000175634.15	transcript	ENST00000312629.10	protein_coding		1420		chr11	TogoVar
RPS6_chr9_19370715_19385236	19375840	TGGTATCC others(10): Show TGGTATCCACTAAAACTA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01109.hp2 HG01243.hp2 others(51): Show HG01081.hp2 HG01109.hp2 HG01243.hp2 HG01361.hp1 HG01981.hp1 HG02004.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp2 NA18522.hp1 NA18906.hp1 NA18961.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011	a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0020 others(13): Show a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0004g0007 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0042 a0001c0001t0006g0032 a0001c0001t0006g0038 a0001c0001t0006g0040 a0001c0001t0010g0043 a0001c0001t0011g0030	54	422	0.1280	-17	c.43 others(26): Show c.436_*452delTAGTTTTAGTGGATACC	RPS6	ENSG00000137154.13	transcript	ENST00000380394.9	protein_coding	6/6	436		chr9	TogoVar
RPS6_chr9_19370715_19385236	19376958	TTTGTCTG others(10): Show TTTGTCTGTGAAAACCAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp1 HG02970.hp2 others(3): Show HG02886.hp1 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03516.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0048 a0001c0001t0003g0009 a0001c0001t0003g0048	6	422	0.0142	-17	c.497 others(32): Show c.497-324_497-308delGTGGTTTTCACAGACAA	RPS6	ENSG00000137154.13	transcript	ENST00000380394.9	protein_coding	4/5			chr9	TogoVar
RPTOR_chr17_80539838_80971368	80634677	TGTGTGCG others(10): Show TGTGTGCGTACTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01255.hp2 others(14): Show HG01167.hp1 HG01169.hp2 HG01255.hp2 HG02451.hp1 HG02559.hp2 HG02647.hp1 HG02895.hp2 HG02897.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp2 NA18522.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0006 others(9): Show a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0011 a0001c0016 a0001c0021 a0001c0029 a0001c0059 a0001c0064 a0001c0068	a0001c0004t0035 a0001c0005t0074 a0001c0005t0075 others(13): Show a0001c0004t0035 a0001c0005t0074 a0001c0005t0075 a0001c0006t0063 a0001c0006t0082 a0001c0006t0087 a0001c0008t0081 a0001c0009t0078 a0001c0011t0029 a0001c0016t0031 a0001c0021t0018 a0001c0021t0079 a0001c0029t0085 a0001c0059t0080 a0001c0064t0006 a0001c0068t0025	a0001c0004t0035g0004 a0001c0005t0074g0008 a0001c0005t0075g0009 others(14): Show a0001c0004t0035g0004 a0001c0005t0074g0008 a0001c0005t0075g0009 a0001c0006t0063g0160 a0001c0006t0082g0015 a0001c0006t0087g0013 a0001c0008t0081g0019 a0001c0009t0078g0021 a0001c0011t0029g0196 a0001c0016t0031g0010 a0001c0016t0031g0011 a0001c0021t0018g0014 a0001c0021t0079g0005 a0001c0029t0085g0012 a0001c0059t0080g0006 a0001c0064t0006g0106 a0001c0068t0025g0104	17	196	0.0867	-17	c.265 others(34): Show c.265+8901_265+8917delCGTGTGCGTACTGTGTG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80634842	CGTGTGTG others(10): Show CGTGTGTGTGCATACCGT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0102 a0001c0003t0014g0102	1	196	0.0051	-17	c.266 others(34): Show c.266-8871_266-8855delCGTGTGTGTGTGCATAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80764155	ATTTTATT others(10): Show ATTTTATTTTATTTTATT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0006 a0001c0028t0006	a0001c0028t0006g0124 a0001c0028t0006g0124	1	196	0.0051	-17	c.830 others(34): Show c.830+9973_830+9989delTTATTTTATTTTATTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	6/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80893323	CGCGCGCC others(10): Show CGCGCGCCAGGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01261.hp1 others(6): Show HG01167.hp1 HG01169.hp2 HG01261.hp1 HG02559.hp1 HG02630.hp2 HG02723.hp1 HG02895.hp1 HG02970.hp1 HG03130.hp1	a0001 a0001	a0001c0020 a0001c0021 a0001c0050 others(2): Show a0001c0020 a0001c0021 a0001c0050 a0001c0064 a0001c0079	a0001c0020t0048 a0001c0020t0064 a0001c0020t0093 others(6): Show a0001c0020t0048 a0001c0020t0064 a0001c0020t0093 a0001c0021t0018 a0001c0021t0065 a0001c0021t0079 a0001c0050t0007 a0001c0064t0006 a0001c0079t0050	a0001c0020t0048g0094 a0001c0020t0064g0190 a0001c0020t0093g0034 others(6): Show a0001c0020t0048g0094 a0001c0020t0064g0190 a0001c0020t0093g0034 a0001c0021t0018g0014 a0001c0021t0065g0112 a0001c0021t0079g0005 a0001c0050t0007g0148 a0001c0064t0006g0106 a0001c0079t0050g0097	9	196	0.0459	-17	c.224 others(34): Show c.2243-379_2243-363delGCCAGGTGTGTGTGCGC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	19/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPUSD1_chr16_779974_793381	781326	CCTCCCAG others(10): Show CCTCCCAGCAGGAACTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	-17	c.46 others(28): Show c.4607_*4623delCCAGTTCCTGCTGGGAG	RPUSD1	ENSG00000007376.8	transcript	ENST00000007264.7	protein_coding		3647		chr16	TogoVar
RPUSD4_chr11_126197096_126216650	126214497	TTTTTTGT others(10): Show TTTTTTGTTTTTTTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0016 a0001c0003t0001g0016	1	416	0.0024	-17	c.-28 others(28): Show c.-2876_-2860delCAAAAAAAAAACAAAAA	RPUSD4	ENSG00000165526.9	transcript	ENST00000298317.9	protein_coding		2848		chr11	TogoVar
RRAGA_chr9_19044427_19056025	19045316	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	446	0.0022	-17	c.-43 others(28): Show c.-4343_-4327delAAAAAAAAAAAAAAAAA	RRAGA	ENSG00000155876.6	transcript	ENST00000380527.3	protein_coding		4110		chr9	TogoVar
RREB1_chr6_7102961_7256980	7117388	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0004 a0006c0005t0004	a0006c0005t0004g0084 a0006c0005t0004g0084	1	292	0.0034	-17	c.-28 others(36): Show c.-285+9349_-285+9365delTTTTTTTTTTTTTTTTT	RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
RRM2_chr2_10117739_10136414	10126182	AAAAAAAA others(10): Show AAAAAAAAAAAGCTGCCC	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18964.hp1 NA19043.hp2 HG03239.hp1 NA18964.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	3	358	0.0084	-17	c.570 others(32): Show c.570-690_570-674delAAAAAAAAGCTGCCCAA	RRM2	ENSG00000171848.16	transcript	ENST00000304567.10	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
RRP15_chr1_218280293_218342983	218308062	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01255.hp1 HG01978.hp1 others(4): Show HG00597.hp1 HG01255.hp1 HG01978.hp1 NA18982.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0070	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0006g0134 others(4): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0006g0134 a0001c0001t0007g0133 a0001c0001t0007g0135 a0001c0001t0007g0166 a0001c0001t0070g0136	7	360	0.0194	-17	c.705 others(32): Show c.705+443_705+459delTTTTTTTTTTTTTTTTT	RRP15	ENSG00000067533.6	transcript	ENST00000366932.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
RRP15_chr1_218280293_218342983	218331651	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG02809.hp1 HG02922.hp1 others(2): Show HG01109.hp1 HG02809.hp1 HG02922.hp1 HG03139.hp1 HG03471.hp2	a0003 a0009 a0003 a0009	a0003c0003 a0009c0010 a0003c0003 a0009c0010	a0003c0003t0037 a0003c0003t0038 a0003c0003t0082 others(1): Show a0003c0003t0037 a0003c0003t0038 a0003c0003t0082 a0009c0010t0038	a0003c0003t0037g0026 a0003c0003t0038g0027 a0003c0003t0082g0029 others(1): Show a0003c0003t0037g0026 a0003c0003t0038g0027 a0003c0003t0082g0029 a0009c0010t0038g0028	5	360	0.0139	-17	c.58 others(26): Show c.583_*599delTTTTTTTTTTTTTTTTT	RRP15	ENSG00000067533.6	transcript	ENST00000366932.4	protein_coding	5/5	583	INFO_REALIGN_3_PRIME	chr1	TogoVar
RRP7A_chr22_42503344_42524796	42507069	TTATTATT others(10): Show TTATTATTATTATTATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0132 a0001c0003t0132	a0001c0003t0132g0175 a0001c0003t0132g0175	1	388	0.0026	-17	c.58 others(28): Show c.5824_*5840delTAATAATAATAATAATA	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding		1274		chr22	TogoVar
RSF1_chr11_77655009_77825722	77671125	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0269 a0001c0001t0008g0269	1	352	0.0028	-17	c.375 others(34): Show c.3751+900_3751+916delATATTTTTTTTTTTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	15/15			chr11	TogoVar
RSF1_chr11_77655009_77825722	77798581	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0306	1	352	0.0028	-17	c.187 others(36): Show c.187+21930_187+21946delTTTTTTTTTTTTTTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	1/15			chr11	TogoVar
RSPH4A_chr6_116611479_116637985	116629831	CATTCATG others(10): Show CATTCATGTTCTGGGATG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0088 a0001c0001t0012g0088	1	398	0.0025	-17	c.179 others(34): Show c.1798+132_1798+148delTCATGTTCTGGGATGAT	RSPH4A	ENSG00000111834.13	transcript	ENST00000229554.10	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
RSPH9_chr6_43640036_43677600	43656028	CCTTCCTT others(10): Show CCTTCCTTCCCCTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01884.hp1 HG02145.hp2 others(31): Show HG00642.hp2 HG01884.hp1 HG02145.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02976.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03831.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18747.hp1 NA18966.hp2 NA18974.hp2 NA18982.hp1 NA18989.hp2 NA19000.hp1 NA19005.hp2 NA19054.hp1 NA19085.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0002c0002t0002	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0028 others(20): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0146 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0004g0188 a0001c0001t0004g0258 a0001c0001t0008g0100 a0001c0001t0009g0227 a0001c0001t0010g0017 a0001c0001t0017g0237 a0002c0002t0002g0019	34	342	0.0994	-17	c.523 others(32): Show c.523+339_523+355delTTCCTTCCCCTTCTTTC	RSPH9	ENSG00000172426.16	transcript	ENST00000372163.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
RSPO2_chr8_107894316_108088620	107954587	CTTTTATT others(10): Show CTTTTATTTATTTATTTA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(102): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01952.hp1 HG02004.hp2 HG02027.hp1 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02165.hp1 HG02258.hp2 HG02486.hp1 HG02523.hp1 HG02615.hp1 HG02622.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02976.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp1 NA18612.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18953.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18970.hp2 NA18973.hp1 NA18978.hp1 NA18979.hp2 NA18982.hp2 NA18985.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19011.hp2 NA19057.hp1 NA19062.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19084.hp1 NA19090.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0002c0002t0007 a0002c0002t0014 a0002c0002t0016 a0002c0002t0018	a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0065 others(102): Show a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0147 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0005g0227 a0001c0001t0005g0240 a0002c0002t0001g0002 a0002c0002t0001g0011 a0002c0002t0001g0016 a0002c0002t0001g0021 a0002c0002t0001g0027 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0038 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0071 a0002c0002t0001g0081 a0002c0002t0001g0088 a0002c0002t0001g0094 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0109 a0002c0002t0001g0111 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0148 a0002c0002t0001g0153 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0180 a0002c0002t0001g0187 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0204 a0002c0002t0001g0214 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0007g0223 a0002c0002t0014g0192 a0002c0002t0016g0050 a0002c0002t0018g0054	105	240	0.4375	-17	c.616 others(34): Show c.616+3476_616+3492delTAAATAAATAAATAAAA	RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	5/5			chr8	TogoVar
RSPO2_chr8_107894316_108088620	108003301	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19043.hp2 HG03486.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0006 a0001c0001t0010g0007 a0001c0001t0010g0006 a0001c0001t0010g0007	2	240	0.0083	-17	c.95- others(34): Show c.95-14074_95-14058delAAAAAAATATATATATA	RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5			chr8	TogoVar

Search by Variant

Search

Search Results (Total: 9132 hits)