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
RPL18_chr19_48610331_48624178	48616643	C C	CCAGCACA others(28): Show CCAGCACAGCACAGCACAGCACAGCACAGCACAGCA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	382	0.0026	35	c.297 others(48): Show c.297+48_297+82dupTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTG CTG	RPL18	ENSG00000063177.13	transcript	ENST00000549920.6	protein_coding	4/6			chr19	TogoVar
RPL26_chr17_8372516_8388193	8374937	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 NA19060.hp2 NA19074.hp1 HG03579.hp2 NA19060.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0001 a0001c0001t0001g0024	3	422	0.0071	35	c.26 others(46): Show c.2626_*2627insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		2578		chr17	TogoVar
RPS10_chr6_34412454_34431069	34427078	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	390	0.0026	35	c.-10 others(46): Show c.-1048_-1047insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	RPS10	ENSG00000124614.17	transcript	ENST00000648437.1	protein_coding		1010		chr6	TogoVar
RPS24_chr10_78028863_78045697	78029723	C C	CCACGTAA others(28): Show CCACGTAATCAGACACCCGCAGAGAAACTGCATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	430	0.0023	35	c.-41 others(46): Show c.-4179_-4178insCACGTAATCAGACACCCGCAGAGAAACTGCATAT A	RPS24	ENSG00000138326.21	transcript	ENST00000372360.9	protein_coding		4139		chr10	TogoVar
RPS6KA2_chr6_166404364_166632251	166480479	T T	TTATATAT others(28): Show TTATATATATATATAATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0160 a0001c0004t0010g0160	1	244	0.0041	35	c.907 others(52): Show c.907+8353_907+8354insTATATATATATATATATATATTATATAT ATATATA	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20			chr6	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00733.hp2 others(1): Show HG00140.hp1 HG00558.hp1 HG00733.hp2 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0090 a0001c0001t0001g0092 others(1): Show a0001c0001t0001g0069 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0309	4	330	0.0121	35	c.472 others(50): Show c.472+629_472+630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATCCATCC others(28): Show ATCCATCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02109.hp2 HG03098.hp2 others(2): Show HG01496.hp1 HG02109.hp2 HG03098.hp2 HG06807.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0079 a0002c0002t0081 others(2): Show a0002c0002t0019 a0002c0002t0079 a0002c0002t0081 a0002c0002t0087 a0002c0002t0137	a0002c0002t0019g0167 a0002c0002t0079g0231 a0002c0002t0081g0162 others(2): Show a0002c0002t0019g0167 a0002c0002t0079g0231 a0002c0002t0081g0162 a0002c0002t0087g0232 a0002c0002t0137g0071	5	366	0.0137	35	c.-15 others(46): Show c.-1536_-1535insTCCATCCTTCCTTCCTTCCTTCCTTCCTTCCTTC C	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761906	T T	TCTCTCTC others(28): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 NA18945.hp2 NA18947.hp1 others(1): Show HG02258.hp1 NA18945.hp2 NA18947.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0281 a0001c0001t0001g0310 a0001c0001t0006g0311 others(1): Show a0001c0001t0001g0281 a0001c0001t0001g0310 a0001c0001t0006g0311 a0001c0001t0006g0320	4	366	0.0109	35	c.-15 others(46): Show c.-1531_-1530insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGCTCT C	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1097		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761906	T T	TCTCTCTC others(28): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	366	0.0027	35	c.-15 others(46): Show c.-1531_-1530insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCG C	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1097		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80665502	C C	CCTTTCCT others(28): Show CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0060 a0001c0051t0060	a0001c0051t0060g0116 a0001c0051t0060g0116	1	196	0.0051	35	c.348 others(54): Show c.348+21693_348+21694insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTTC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0010 a0001c0035t0010	a0001c0035t0010g0063 a0001c0035t0010g0063	1	196	0.0051	35	c.349 others(54): Show c.349-22213_349-22212insATATATATATATATATATATATATAT ATTTTTTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSBN1L_chr7_77691459_77788022	77725244	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG04204.hp2 HG03540.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0186 a0001c0001t0005g0202 a0001c0001t0003g0186 a0001c0001t0005g0202	2	336	0.0060	35	c.587 others(54): Show c.587-11145_587-11144insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
RSF1_chr11_77655009_77825722	77729895	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0270 a0001c0001t0008g0270	1	352	0.0028	35	c.579 others(52): Show c.579-4197_579-4196insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	4/15			chr11	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTTATATA others(28): Show TTTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	276	0.0036	35	c.321 others(50): Show c.321-509_321-508insTATATATATATATATATATATATATATATA TATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158518148	A A	ATATATAT others(28): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0001 a0001c0001t0013g0001	1	276	0.0036	35	c.653 others(54): Show c.653-18943_653-18942insATATATATATATATATTTTTTTTTTT TTTTTTTTT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RTEL1_chr20_63653312_63701245	63683877	G G	GTAAGTTC others(28): Show GTAAGTTCTGAGGATCCCATATACATATTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG00642.hp2 others(51): Show HG00621.hp1 HG00642.hp1 HG00642.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(8): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0011 a0001c0012 a0001c0014 a0001c0017 a0003c0005 a0004c0006 a0005c0018 a0006c0009 a0007c0008 a0008c0013 a0009c0010 a0010c0019 a0011c0020 a0012c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 a0001c0007t0002 a0001c0011t0002 a0001c0012t0002 a0001c0014t0002 a0001c0017t0001 a0003c0005t0001 a0004c0006t0001 a0005c0018t0002 a0006c0009t0002 a0007c0008t0001 a0008c0013t0002 a0009c0010t0001 a0010c0019t0002 a0011c0020t0001 a0012c0021t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 others(51): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0048 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0003t0001g0027 a0001c0003t0001g0029 a0001c0007t0001g0032 a0001c0007t0002g0012 a0001c0011t0002g0008 a0001c0012t0002g0005 a0001c0014t0002g0006 a0001c0017t0001g0053 a0003c0005t0001g0051 a0003c0005t0001g0060 a0004c0006t0001g0036 a0004c0006t0001g0037 a0005c0018t0002g0018 a0006c0009t0002g0017 a0007c0008t0001g0026 a0008c0013t0002g0015 a0009c0010t0001g0033 a0010c0019t0002g0014 a0011c0020t0001g0024 a0012c0021t0001g0025	54	60	0.9000	35	c.119 others(54): Show c.1192-1591_1192-1557dupATACATATTCTCTCTCTAAGTTCTGA GGATCCCAT	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	14/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTL6_chr22_44487583_44503233	44492352	T T	TAGTGGGG others(28): Show TAGTGGGGATCCACTGCACGTGCAGTGGATCCCACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA19060.hp1 NA18953.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	402	0.0050	35	c.44 others(46): Show c.4484_*4485insCGTGGGATCCACTGCACGTGCAGTGGATCCCCAC T	RTL6	ENSG00000188636.4	transcript	ENST00000341255.4	protein_coding		230		chr22	TogoVar
RTL8A_chrX_135045932_135057135	135050291	T T	TTATAATT others(28): Show TTATAATTGTATTATAACTAAATTATAATACAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	318	0.0031	35	c.14 others(46): Show c.1475_*1476insTAATTGTATTATAATTTAGTTATAATACAATTAT A	RTL8A	ENSG00000203950.7	transcript	ENST00000370775.3	protein_coding		640		chrX	TogoVar
RTN1_chr14_59590983_59875776	59749957	T T	TATATATA others(28): Show TATATATATTATATACATATATTATATATTATATAC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	172	0.0058	35	c.242 others(52): Show c.242-3511_242-3477dupGTATATAATATATAATATATGTATATAA TATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN4IP1_chr6_106565771_106634498	106634144	T T	TCTCTCTT others(28): Show TCTCTCTTTTCCTCCTCCTCCGTTGTTGTTGTTGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	396	0.0025	35	c.-51 others(46): Show c.-5124_-5123insTTCAACAACAACAACGGAGGAGGAGGAAAAGAGA G	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding		4647		chr6	TogoVar
RTN4RL1_chr17_1929677_2030334	1932063	G G	GCAGGCGT others(28): Show GCAGGCGTGCATGTCCAGGGGAATTTGCTGAGGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01074.hp2 HG01106.hp2 others(95): Show HG00323.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18943.hp1 NA18952.hp2 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18994.hp2 NA19009.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19068.hp2 NA19084.hp2 NA19085.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0002c0004 a0004c0011	a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 others(46): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0031 a0001c0001t0052 a0001c0001t0055 a0001c0001t0089 a0001c0001t0090 a0001c0001t0092 a0001c0001t0093 a0001c0001t0096 a0001c0001t0113 a0001c0001t0119 a0001c0001t0122 a0001c0002t0004 a0001c0002t0007 a0001c0002t0010 a0001c0002t0016 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0032 a0001c0002t0035 a0001c0002t0037 a0001c0002t0038 a0001c0002t0039 a0001c0002t0040 a0001c0002t0041 a0001c0002t0042 a0001c0002t0056 a0001c0002t0057 a0001c0002t0066 a0001c0002t0071 a0001c0002t0074 a0001c0002t0075 a0001c0002t0077 a0001c0002t0078 a0001c0002t0081 a0001c0002t0082 a0001c0002t0083 a0001c0002t0108 a0001c0009t0134 a0002c0004t0010 a0002c0004t0035 a0004c0011t0011	a0001c0001t0003g0016 a0001c0001t0005g0363 a0001c0001t0011g0097 others(94): Show a0001c0001t0003g0016 a0001c0001t0005g0363 a0001c0001t0011g0097 a0001c0001t0011g0109 a0001c0001t0011g0214 a0001c0001t0014g0238 a0001c0001t0014g0246 a0001c0001t0017g0018 a0001c0001t0017g0085 a0001c0001t0017g0212 a0001c0001t0022g0047 a0001c0001t0023g0040 a0001c0001t0023g0087 a0001c0001t0023g0267 a0001c0001t0023g0296 a0001c0001t0031g0002 a0001c0001t0031g0203 a0001c0001t0031g0377 a0001c0001t0052g0205 a0001c0001t0055g0380 a0001c0001t0055g0381 a0001c0001t0089g0045 a0001c0001t0090g0213 a0001c0001t0092g0299 a0001c0001t0093g0091 a0001c0001t0096g0102 a0001c0001t0113g0104 a0001c0001t0119g0378 a0001c0001t0122g0320 a0001c0002t0004g0020 a0001c0002t0004g0029 a0001c0002t0004g0044 a0001c0002t0004g0048 a0001c0002t0004g0050 a0001c0002t0004g0093 a0001c0002t0004g0129 a0001c0002t0004g0143 a0001c0002t0004g0172 a0001c0002t0004g0173 a0001c0002t0004g0192 a0001c0002t0004g0200 a0001c0002t0004g0236 a0001c0002t0004g0308 a0001c0002t0004g0358 a0001c0002t0004g0359 a0001c0002t0007g0008 a0001c0002t0007g0068 a0001c0002t0007g0116 a0001c0002t0007g0153 a0001c0002t0007g0167 a0001c0002t0007g0178 a0001c0002t0007g0248 a0001c0002t0007g0249 a0001c0002t0007g0259 a0001c0002t0007g0297 a0001c0002t0007g0312 a0001c0002t0007g0333 a0001c0002t0007g0361 a0001c0002t0010g0077 a0001c0002t0010g0078 a0001c0002t0010g0148 a0001c0002t0010g0152 a0001c0002t0010g0239 a0001c0002t0016g0026 a0001c0002t0027g0060 a0001c0002t0027g0099 a0001c0002t0028g0061 a0001c0002t0029g0156 a0001c0002t0032g0149 a0001c0002t0032g0243 a0001c0002t0035g0025 a0001c0002t0037g0147 a0001c0002t0037g0262 a0001c0002t0038g0088 a0001c0002t0038g0131 a0001c0002t0039g0074 a0001c0002t0039g0075 a0001c0002t0040g0105 a0001c0002t0040g0108 a0001c0002t0041g0030 a0001c0002t0042g0001 a0001c0002t0056g0141 a0001c0002t0057g0142 a0001c0002t0066g0013 a0001c0002t0071g0117 a0001c0002t0074g0154 a0001c0002t0075g0224 a0001c0002t0077g0155 a0001c0002t0078g0107 a0001c0002t0081g0210 a0001c0002t0082g0285 a0001c0002t0083g0170 a0001c0002t0108g0163 a0001c0009t0134g0301 a0002c0004t0010g0282 a0002c0004t0035g0252 a0004c0011t0011g0202	98	384	0.2552	35	c.44 others(46): Show c.4432_*4433insAGCCCTCAGCAAATTCCCCTGGACATGCACGCCT G	RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding		2613		chr17	TogoVar
RUFY3_chr4_70716964_70813619	70774644	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0252 a0001c0001t0033g0252	1	254	0.0039	35	c.759 others(50): Show c.759-523_759-522insAAAAAAAAAAAAAAAAAAAAAAAAAAATAT ATATA	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RUNDC3B_chr7_87623398_87837296	87626348	T T	TATATATG others(28): Show TATATATGTGTCATATATGTGTCATATATATGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0089	1	202	0.0050	35	c.-24 others(46): Show c.-2476_-2475insATATATGTGTCATATATGTGTCATATATATGTGT C	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2049		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626351	A A	ATGTGTCG others(28): Show ATGTGTCGTATATGTGTCATATATATGTGTCATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0117 a0001c0001t0005g0117	1	202	0.0050	35	c.-24 others(46): Show c.-2473_-2472insTGTGTCGTATATGTGTCATATATATGTGTCATAT G	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2046		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626355	G G	GTGTCATA others(28): Show GTGTCATATATATGTCATATATATGTGTCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0035 a0001c0001t0035g0035	1	202	0.0050	35	c.-24 others(46): Show c.-2469_-2468insTGTCATATATATGTCATATATATGTGTCATATAT A	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2042		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626368	G G	GTGTCATA others(28): Show GTGTCATATATATGTCATATATATGTGTCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0036 a0001c0001t0020g0036	1	202	0.0050	35	c.-24 others(46): Show c.-2456_-2455insTGTCATATATATGTCATATATATGTGTCATATAT A	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2029		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626394	G G	GTGTCATA others(28): Show GTGTCATATATATGTCATATATATGTGTCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0031 a0002c0002t0002g0031	1	202	0.0050	35	c.-24 others(46): Show c.-2430_-2429insTGTCATATATATGTCATATATATGTGTCATATAT A	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2003		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626413	T T	TATATATG others(28): Show TATATATGTGTCATATATGTGTCATATATATGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp2 HG03579.hp2 HG03041.hp1 HG03041.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0034 a0001c0001t0076 a0001c0001t0005 a0001c0001t0034 a0001c0001t0076	a0001c0001t0005g0080 a0001c0001t0034g0079 a0001c0001t0076g0081 a0001c0001t0005g0080 a0001c0001t0034g0079 a0001c0001t0076g0081	3	202	0.0149	35	c.-24 others(46): Show c.-2411_-2410insATATATGTGTCATATATGTGTCATATATATGTGT C	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1984		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626420	G G	GTGTCATA others(28): Show GTGTCATATATATGTCATATATATGTGTCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	202	0.0050	35	c.-24 others(46): Show c.-2404_-2403insTGTCATATATATGTCATATATATGTGTCATATAT A	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1977		chr7	TogoVar
RUNX1_chr21_34782801_35054302	34849425	T T	TATATATA others(28): Show TATATATAATATATTATATATAGACTATATATTATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0132 a0001c0001t0024g0132	1	170	0.0059	35	c.613 others(54): Show c.613+10048_613+10049insTATAATATATAGTCTATATATAATAT ATTATATAT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	6/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34849425	T T	TATATATA others(28): Show TATATATAATATATTATATATATACTATATATTATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	170	0.0059	35	c.613 others(54): Show c.613+10048_613+10049insTATAATATATAGTATATATATAATAT ATTATATAT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	6/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34967319	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	170	0.0059	35	c.59- others(52): Show c.59-74357_59-74356insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUVBL2_chr19_48988887_49020970	48992487	C C	CAGGCCCG others(28): Show CAGGCCCGCAAGCCTCTCCGACCCTAGGATCTAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18954.hp1 NA18956.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18995.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19082.hp1 NA19086.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0004t0001 a0001c0006t0001 a0001c0008t0001 a0001c0012t0001 a0001c0014t0001 a0001c0015t0001 a0001c0016t0002 a0001c0017t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(210): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0348 a0001c0001t0001g0366 a0001c0001t0001g0368 a0001c0001t0001g0370 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0021 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0169 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0211 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0225 a0001c0002t0001g0251 a0001c0002t0001g0253 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0343 a0001c0002t0001g0344 a0001c0002t0001g0357 a0001c0002t0001g0367 a0001c0002t0001g0369 a0001c0002t0001g0382 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0003g0254 a0001c0003t0002g0006 a0001c0003t0002g0027 a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0031 a0001c0003t0002g0032 a0001c0003t0002g0033 a0001c0003t0002g0034 a0001c0003t0002g0035 a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0003t0002g0038 a0001c0003t0002g0039 a0001c0003t0002g0040 a0001c0003t0002g0041 a0001c0003t0002g0042 a0001c0003t0002g0049 a0001c0003t0002g0089 a0001c0003t0002g0090 a0001c0004t0001g0022 a0001c0004t0001g0165 a0001c0004t0001g0201 a0001c0004t0001g0345 a0001c0004t0001g0346 a0001c0004t0001g0347 a0001c0004t0001g0355 a0001c0004t0001g0356 a0001c0006t0001g0136 a0001c0006t0001g0137 a0001c0006t0001g0256 a0001c0008t0001g0129 a0001c0012t0001g0205 a0001c0014t0001g0052 a0001c0015t0001g0030 a0001c0016t0002g0026 a0001c0017t0002g0050	228	412	0.5534	35	c.-14 others(46): Show c.-1425_-1424insAGGCCCGCAAGCCTCTCCGACCCTAGGATCTAAG G	RUVBL2	ENSG00000183207.15	transcript	ENST00000595090.6	protein_coding		1399		chr19	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA18982.hp2 HG02148.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0396 a0001c0001t0001g0240 a0001c0001t0001g0396	2	480	0.0042	35	c.535 others(52): Show c.535-1948_535-1947insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0099	1	210	0.0048	35	c.49+ others(52): Show c.49+20085_49+20086insATATATATATATATATATATATATATAT TTTTTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP3_chr5_33931386_33943918	33935010	C C	CTTTCTTT others(28): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03516.hp2 HG03139.hp1 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0000 a0001c0003t0006g0000	2	445	0.0045	35	c.-17 others(46): Show c.-1731_-1730insTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC T	RXFP3	ENSG00000182631.7	transcript	ENST00000330120.5	protein_coding		1375		chr5	TogoVar
RXRA_chr9_134321455_134445585	134388179	A A	ATCCTAGG others(28): Show ATCCTAGGCTGTTAGACTGTGCACTTCCGTCAGGGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG01192.hp1 others(10): Show HG00408.hp1 HG00597.hp2 HG01192.hp1 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02683.hp1 HG03927.hp1 HG04204.hp2 NA18939.hp2 NA18955.hp2 NA19068.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0043	a0001c0001t0002g0053 a0001c0001t0002g0072 a0001c0001t0002g0198 others(10): Show a0001c0001t0002g0053 a0001c0001t0002g0072 a0001c0001t0002g0198 a0001c0001t0003g0073 a0001c0001t0005g0004 a0001c0001t0005g0020 a0001c0001t0005g0144 a0001c0001t0005g0176 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0043g0004	13	232	0.0560	35	c.29- others(52): Show c.29-13431_29-13397dupACTTCCGTCAGGGGTCCTAGGCTGTTAG ACTGTGC	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RYR2_chr1_237037184_237838988	237237945	C C	CCCTTTCC others(28): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp1 HG02559.hp2 others(1): Show HG01243.hp1 HG02559.hp1 HG02559.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0028 others(1): Show a0001c0001 a0001c0002 a0001c0028 a0001c0030	a0001c0001t0007 a0001c0002t0003 a0001c0028t0007 others(1): Show a0001c0001t0007 a0001c0002t0003 a0001c0028t0007 a0001c0030t0005	a0001c0001t0007g0011 a0001c0002t0003g0052 a0001c0028t0007g0062 others(1): Show a0001c0001t0007g0011 a0001c0002t0003g0052 a0001c0028t0007g0062 a0001c0030t0005g0053	4	100	0.0400	35	c.49- others(52): Show c.49-32544_49-32510dupTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237473442	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02451.hp2 HG02572.hp1	a0001 a0002 a0001 a0002	a0001c0045 a0002c0038 a0001c0045 a0002c0038	a0001c0045t0001 a0002c0038t0043 a0001c0045t0001 a0002c0038t0043	a0001c0045t0001g0073 a0002c0038t0043g0096 a0001c0045t0001g0073 a0002c0038t0043g0096	2	100	0.0200	35	c.170 others(54): Show c.1708+4275_1708+4276insTTCTTTCTTTCTTTCTTCTTTCTTTC TTTCTTTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
S100A1_chr1_153623434_153637039	153634599	G G	GACAGGGC others(28): Show GACAGGGCTTTGAGGATGGTAGGGAGATTAAGAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(225): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0002 a0001c0001 a0002c0003 a0003c0002	a0001c0001t0001 a0002c0003t0001 a0003c0002t0001 a0001c0001t0001 a0002c0003t0001 a0003c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0002c0003t0001g0001 a0003c0002t0001g0001	228	378	0.6032	35	c.27 others(46): Show c.2758_*2759insACAGGGCTTTGAGGATGGTAGGGAGATTAAGAAG T	S100A1	ENSG00000160678.12	transcript	ENST00000292169.6	protein_coding		2561		chr1	TogoVar
S100A1_chr1_153623434_153637039	153634601	C C	CAGGGCTT others(28): Show CAGGGCTTTGAGGATGGATACACATCTCGTGAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	35	c.27 others(46): Show c.2760_*2761insAGGGCTTTGAGGATGGATACACATCTCGTGAGAG T	S100A1	ENSG00000160678.12	transcript	ENST00000292169.6	protein_coding		2563		chr1	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0155 a0001c0002t0003g0155	1	354	0.0028	35	c.-28 others(46): Show c.-2803_-2802insTATATATATATATATATATATATATATTTTTTTT T	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(28): Show ATATATATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 NA18989.hp1 HG01361.hp2 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0165 a0001c0002t0005g0162 a0001c0002t0002g0165 a0001c0002t0005g0162	2	354	0.0057	35	c.-28 others(46): Show c.-2803_-2802insTATATATATATATATATATATATTTTTTTTTTTT T	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 NA18959.hp2 HG01516.hp1 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0151 a0001c0002t0003g0169 a0001c0002t0002g0151 a0001c0002t0003g0169	2	354	0.0057	35	c.-28 others(46): Show c.-2803_-2802insTATATATATATATATATATATTTTTTTTTTTTTT T	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(28): Show ATATATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0031 a0001c0002t0005g0031	1	354	0.0028	35	c.-28 others(46): Show c.-2803_-2802insTATATATATATATATATATTTTTTTTTTTTTTTT T	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(28): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0050 a0002c0001t0001g0050	1	354	0.0028	35	c.-28 others(46): Show c.-2803_-2802insTATATATATATATTTTTTTTTTTTTTTTTTTTTT T	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SAMD11_chr1_918923_949574	936432	T T	TCCCGCCT others(28): Show TCCCGCCTCCTAGGGCTCCTGGACGGAAGGGGTCCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0317 a0004c0008t0002g0317	1	434	0.0023	35	c.967 others(50): Show c.967+537_967+538insCCGCCTCCTAGGGCTCCTGGACGGAAGGGG TCCCC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD4A_chr14_54562128_54798312	54724007	T T	TGGAAGGA others(28): Show TGGAAGGAAGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0202 a0001c0001t0023g0202	1	262	0.0038	35	c.716 others(54): Show c.716-13008_716-13007insAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAG	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAP130_chr2_127936222_128033059	128003957	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	350	0.0029	35	c.870 others(52): Show c.870-3504_870-3503insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	7/20			chr2	TogoVar
SAP25_chr7_100567228_100578900	100574632	G G	GCGCGCGC others(28): Show GCGCGCGCGCCACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	386	0.0026	35	c.-89 others(44): Show c.-891_-890insTGTGTGTGTGTGTGTGTGTGTGTGTGGCGCGCGCG	SAP25	ENSG00000205307.12	transcript	ENST00000622764.3	protein_coding		733		chr7	TogoVar

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