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
OR4M1_chr14_19768504_19788696	19787251	C C	CCTTCCTT others(22): Show CCTTCCTTCCTTCCTTCTTTCCTTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG01123.hp2 others(32): Show HG00408.hp2 HG00597.hp2 HG01123.hp2 HG01167.hp2 HG01433.hp1 HG01975.hp1 HG02004.hp2 HG02015.hp2 HG02622.hp1 HG03130.hp2 HG04204.hp2 NA18940.hp1 NA18941.hp1 NA18944.hp1 NA18947.hp2 NA18951.hp1 NA18952.hp1 NA18956.hp1 NA18957.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18981.hp1 NA18982.hp1 NA18988.hp2 NA18992.hp2 NA19003.hp1 NA19006.hp2 NA19059.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp2 NA19084.hp1 NA19087.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0004c0009 others(1): Show a0001c0001 a0002c0002 a0004c0009 a0006c0006	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0002c0002t0003 a0002c0002t0006 a0002c0002t0017 a0004c0009t0003 a0006c0006t0029	a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0011 others(16): Show a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0105 a0001c0001t0005g0017 a0001c0001t0011g0096 a0002c0002t0003g0002 a0002c0002t0003g0003 a0002c0002t0003g0004 a0002c0002t0003g0049 a0002c0002t0003g0051 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0006g0004 a0002c0002t0017g0002 a0004c0009t0003g0003 a0006c0006t0029g0116	35	276	0.1268	29	c.59 others(40): Show c.5987_*5988insCTTCCTTCCTTCCTTCTTTCCTTTTCTTT	OR4M1	ENSG00000176299.5	transcript	ENST00000641200.1	protein_coding		3556		chr14	TogoVar
OR4M1_chr14_19768504_19788696	19787266	T T	TCCTTCCT others(22): Show TCCTTCCTTCTTTCCTTTTCTTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG02647.hp2 HG02723.hp2 HG00738.hp2 HG02647.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0025g0072 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0025g0072	3	276	0.0109	29	c.60 others(40): Show c.6002_*6003insCCTTCCTTCTTTCCTTTTCTTTCTTCTTC	OR4M1	ENSG00000176299.5	transcript	ENST00000641200.1	protein_coding		3571		chr14	TogoVar
OR4M2B_chr15_21632909_21643992	21633012	C C	CATATAAT others(22): Show CATATAATAATTATCAATAATTACTACTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0000 a0005c0010t0001g0000	1	215	0.0047	29	c.-49 others(40): Show c.-4995_-4994insATATAATAATTATCAATAATTACTACTCT	OR4M2B	ENSG00000182974.3	transcript	ENST00000332663.3	protein_coding		4896		chr15	TogoVar
OR51A4_chr11_4937831_4952605	4942089	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0009 a0002c0002t0008g0009	1	446	0.0022	29	c.40 others(40): Show c.4069_*4070insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	OR51A4	ENSG00000205497.5	transcript	ENST00000641898.1	protein_coding		741		chr11	TogoVar
OR51A7_chr11_4898783_4914462	4907095	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	452	0.0022	29	c.-31 others(44): Show c.-31-224_-31-223insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	OR51A7	ENSG00000176895.9	transcript	ENST00000641490.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr11	TogoVar
OR5C1_chr9_122783933_122794895	122786931	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	442	0.0023	29	c.-20 others(40): Show c.-2002_-2001insTATATATATATATATATATATATATATAT	OR5C1	ENSG00000148215.4	transcript	ENST00000373680.3	protein_coding		2001		chr9	TogoVar
OR5M11_chr11_56537340_56548257	56546508	T T	TCTCTCTC others(22): Show TCTCTCTCAACAACAACAAACGGAGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0000 a0001c0003t0000	a0001c0003t0000g0000 a0001c0003t0000g0000	1	428	0.0023	29	c.-32 others(40): Show c.-3252_-3251insTCCTCCTCCGTTTGTTGTTGTTGAGAGAG	OR5M11	ENSG00000255223.5	transcript	ENST00000528616.5	protein_coding		3252		chr11	TogoVar
OR5V1_chr6_29348749_29373865	29364797	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	427	0.0023	29	c.-83 others(46): Show c.-83+3834_-83+3835insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	OR5V1	ENSG00000243729.5	transcript	ENST00000641768.1	protein_coding	1/1			chr6	TogoVar
OR6J1_chr14_22625929_22649352	22636225	G G	GCCCTCTC others(22): Show GCCCTCTCCCTCTCCCTCTCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	362	0.0028	29	c.-27 others(46): Show c.-27-1388_-27-1387insAGAGGGAGAGGAGAGGGAGAGGGAGAGG G	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22636280	C C	CCCTCTCC others(22): Show CCCTCTCCCTCCCTCCTCTCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	362	0.0028	29	c.-27 others(46): Show c.-27-1443_-27-1442insAGAGGGAGAGGAGAGGAGGGAGGGAGAG G	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR7A10_chr19_14835466_14853922	14844664	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02056.hp1 NA18950.hp1 others(1): Show HG01952.hp1 HG02056.hp1 NA18950.hp1 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0173 a0001c0002t0003g0192 a0001c0002t0003g0197 others(1): Show a0001c0002t0003g0173 a0001c0002t0003g0192 a0001c0002t0003g0197 a0001c0002t0003g0211	4	488	0.0082	29	c.-12 others(46): Show c.-12-2776_-12-2775insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	OR7A10	ENSG00000127515.3	transcript	ENST00000641129.1	protein_coding	1/1			chr19	TogoVar
OR8G5_chr11_124251376_124271224	124266962	T T	TTTGTATT others(22): Show TTTGTATTTTCTTTTTATTTTTTTCATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	432	0.0023	29	c.10 others(40): Show c.1095_*1096insTTGTATTTTCTTTTTATTTTTTTCATTTC	OR8G5	ENSG00000255298.5	transcript	ENST00000641992.2	protein_coding		739		chr11	TogoVar
ORC3_chr6_87585135_87672451	87644079	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01993.hp1 NA18949.hp2 others(1): Show HG01358.hp1 HG01993.hp1 NA18949.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 others(1): Show a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0189	4	378	0.0106	29	c.138 others(48): Show c.1382+7596_1382+7624dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ORC3	ENSG00000135336.16	transcript	ENST00000392844.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ORM1_chr9_114318098_114331479	114318916	T T	TAGATATA others(22): Show TAGATATAGATGATAGATAGATGATAGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 NA18978.hp1 HG03927.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	464	0.0043	29	c.-42 others(40): Show c.-4218_-4217insAGATATAGATGATAGATAGATGATAGATA	ORM1	ENSG00000229314.6	transcript	ENST00000259396.9	protein_coding		4181		chr9	TogoVar
OSBPL10_chr3_31655825_31986262	31761813	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG06807.hp1 HG02717.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0002 a0001c0001t0001 a0001c0006t0002	a0001c0001t0001g0072 a0001c0006t0002g0081 a0001c0001t0001g0072 a0001c0006t0002g0081	2	186	0.0108	29	c.730 others(48): Show c.730-13694_730-13693insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31905345	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0186 a0001c0001t0006g0186	1	186	0.0054	29	c.282 others(48): Show c.282-25516_282-25515insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	1/11			chr3	TogoVar
OSBPL1A_chr18_24157052_24402824	24262722	T T	TCATGTGC others(22): Show TCATGTGCCCCTTTCACGGTCACTCTCCCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01361.hp1 HG01891.hp1 others(38): Show HG00738.hp2 HG01361.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp2 HG02132.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03704.hp1 HG06807.hp1 NA18522.hp2 NA19060.hp2 NA19083.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0013 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0003 a0001c0003t0009 a0001c0004t0001 a0001c0004t0003 a0001c0013t0003 a0003c0007t0001	a0001c0001t0001g0005 a0001c0001t0001g0033 a0001c0001t0001g0044 others(38): Show a0001c0001t0001g0005 a0001c0001t0001g0033 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0073 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0157 a0001c0001t0001g0172 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0002g0062 a0001c0001t0002g0128 a0001c0001t0004g0134 a0001c0001t0004g0200 a0001c0001t0006g0199 a0001c0001t0007g0006 a0001c0002t0001g0003 a0001c0002t0001g0019 a0001c0002t0001g0041 a0001c0002t0001g0116 a0001c0002t0001g0138 a0001c0002t0002g0098 a0001c0002t0004g0007 a0001c0002t0004g0050 a0001c0002t0004g0135 a0001c0002t0004g0201 a0001c0003t0001g0008 a0001c0003t0003g0020 a0001c0003t0003g0107 a0001c0003t0009g0183 a0001c0004t0001g0015 a0001c0004t0001g0042 a0001c0004t0001g0043 a0001c0004t0001g0165 a0001c0004t0003g0163 a0001c0013t0003g0203 a0003c0007t0001g0182	41	206	0.1990	29	c.128 others(50): Show c.1281+18091_1281+18119dupGGGGAGAGTGACCGTGAAAGGGGC ACATG	OSBPL1A	ENSG00000141447.19	transcript	ENST00000319481.8	protein_coding	15/27			chr18	TogoVar
OSBPL3_chr7_24791540_24985178	24917411	T T	TATATATA others(22): Show TATATATATATATATATATATATTTGTAAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	326	0.0031	29	c.-14 others(50): Show c.-149-24791_-149-24790insGTTACAAATATATATATATATATA TATAT	OSBPL3	ENSG00000070882.13	transcript	ENST00000313367.7	protein_coding	1/22			chr7	TogoVar
OSBPL9_chr1_51612092_51794219	51705399	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	186	0.0054	29	c.242 others(46): Show c.242-8603_242-8602insATATATATATATATATATATATATATAT T	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
OSCAR_chr19_54089668_54105803	54089940	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01243.hp1 HG01255.hp2 others(1): Show HG01192.hp2 HG01243.hp1 HG01255.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0083 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0083 a0001c0001t0001g0274	4	443	0.0090	29	c.52 others(40): Show c.5280_*5281insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding		4727		chr19	TogoVar
OSCAR_chr19_54089668_54105803	54099229	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	443	0.0023	29	c.70+ others(42): Show c.70+518_70+519insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding	2/4			chr19	TogoVar
OSCAR_chr19_54089668_54105803	54101555	T T	TAGATAGA others(22): Show TAGATAGATAGATAGATAGATAGATAGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0139 a0002c0002t0001g0139	1	443	0.0023	29	c.-76 others(38): Show c.-764_-763insTATCTATCTATCTATCTATCTATCTATCT	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding		753		chr19	TogoVar
OSER1_chr20_44190939_44215771	44215754	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18964.hp1 NA18969.hp2 NA18952.hp1 NA18964.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0045 a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0045	3	444	0.0068	29	c.-51 others(40): Show c.-5101_-5100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	OSER1	ENSG00000132823.11	transcript	ENST00000255174.3	protein_coding		4984		chr20	TogoVar
OSGEPL1_chr2_189741660_189767792	189745027	C C	CTACTACT others(22): Show CTACTACTACTACTACTACTACTATAATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0018 a0003c0005t0001g0018	1	358	0.0028	29	c.21 others(40): Show c.2169_*2170insTTATTATAGTAGTAGTAGTAGTAGTAGTA	OSGEPL1	ENSG00000128694.12	transcript	ENST00000264151.10	protein_coding		1632		chr2	TogoVar
OSTF1_chr9_75083514_75152265	75128527	C C	CATATATA others(22): Show CATATATATATATATATATTTTGTCCATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02155.hp2 NA19060.hp1 others(1): Show HG00558.hp2 HG02155.hp2 NA19060.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 others(1): Show a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0206	4	366	0.0109	29	c.132 others(44): Show c.132+956_132+984dupTTTGTCCATATATATATATATATATATAT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75139027	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0178 a0001c0001t0008g0178	1	366	0.0027	29	c.487 others(46): Show c.487+1413_487+1414insTCTTTCTTTCTTTCTTTCTTTCTTTCTT T	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTUD7A_chr15_31470398_31875673	31511707	C C	CACATATA others(22): Show CACATATATATGTATATCTATATGTAACAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0067 a0002c0003t0003g0067	1	244	0.0041	29	c.894 others(46): Show c.894-7890_894-7889insATGTTACATATAGATATACATATATATG T	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31564387	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03579.hp1 NA19065.hp2 HG01943.hp2 HG03579.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0007 a0001c0001 a0002c0003 a0002c0007	a0001c0001t0029 a0002c0003t0009 a0002c0007t0003 a0001c0001t0029 a0002c0003t0009 a0002c0007t0003	a0001c0001t0029g0061 a0002c0003t0009g0117 a0002c0007t0003g0158 a0001c0001t0029g0061 a0002c0003t0009g0117 a0002c0007t0003g0158	3	244	0.0123	29	c.332 others(46): Show c.332-5201_332-5200insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	4/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31610617	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0049 a0001c0006t0049	a0001c0006t0049g0211 a0001c0006t0049g0211	1	244	0.0041	29	c.152 others(48): Show c.152-40421_152-40420insAAAAAAATATATATATATATATATAT ATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31610617	A A	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0172 a0001c0001t0055g0172	1	244	0.0041	29	c.152 others(48): Show c.152-40421_152-40420insAAAAAAAAAAAAAAATATATATATAT ATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31610617	A A	ATATATAT others(22): Show ATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0175 a0001c0002t0001g0175	1	244	0.0041	29	c.152 others(48): Show c.152-40421_152-40420insAAAAAAAAAAAAAAAAAAAAATATAT ATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31753702	T T	TATTATAT others(22): Show TATTATATATATATATATTATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0072 a0001c0001t0004g0072	1	244	0.0041	29	c.-99 others(48): Show c.-99-96626_-99-96625insTATATATATATAATATATATATATAT AAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OXGR1_chr13_96980713_96999476	96990946	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0059	1	462	0.0022	29	c.-12 others(48): Show c.-126-1138_-126-1137insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	OXGR1	ENSG00000165621.9	transcript	ENST00000541038.2	protein_coding	2/3			chr13	TogoVar
OXR1_chr8_106265190_106757694	106358818	G G	GGAATAAT others(22): Show GGAATAATTTAATTCACTAAATAATTTAGT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01433.hp1 others(3): Show HG01257.hp1 HG01258.hp2 HG01433.hp1 HG02148.hp1 NA18991.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0060 others(3): Show a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0002t0001g0053 a0001c0002t0001g0059	6	172	0.0349	29	c.-13 others(46): Show c.-138-597_-138-569dupATAATTTAATTCACTAAATAATTTAGTG A	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
OXSR1_chr3_38160537_38260484	38161552	T T	TTCATATA others(22): Show TTCATATATTATGTATATTTCATATACATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02895.hp2 HG02896.hp1 HG02055.hp1 HG02895.hp2 HG02896.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0011 a0002c0002t0006g0012 a0002c0002t0006g0038 a0002c0002t0006g0011 a0002c0002t0006g0012 a0002c0002t0006g0038	3	248	0.0121	29	c.-43 others(40): Show c.-4325_-4324insTCATATATTATGTATATTTCATATACATG	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding		3984		chr3	TogoVar
OXSR1_chr3_38160537_38260484	38161640	T T	TATGTCAT others(22): Show TATGTCATATATTATGTATATTTCATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	248	0.0040	29	c.-42 others(40): Show c.-4237_-4236insATGTCATATATTATGTATATTTCATATAC	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding		3896		chr3	TogoVar
OXTR_chr3_8745381_8774613	8772849	T T	TACCTAGC others(22): Show TACCTAGCACATATTAGCTATTAGCTTAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18995.hp2 NA19058.hp1 others(2): Show NA18955.hp2 NA18995.hp2 NA19058.hp1 NA19066.hp1 NA19087.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0015 a0001c0004t0004 a0001c0004t0015	a0001c0004t0004g0284 a0001c0004t0004g0292 a0001c0004t0004g0296 others(1): Show a0001c0004t0004g0284 a0001c0004t0004g0292 a0001c0004t0004g0296 a0001c0004t0015g0074	5	474	0.0106	29	c.-38 others(40): Show c.-3858_-3857insGCTAAGCTAATAGCTAATATGTGCTAGGT	OXTR	ENSG00000180914.11	transcript	ENST00000316793.8	protein_coding		3237		chr3	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0337 a0005c0006t0001g0337	1	366	0.0027	29	c.125 others(46): Show c.125+2929_125+2930insAAAAAAAAATATATATATATATATATAT A	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0015 a0015	a0015c0012 a0015c0012	a0015c0012t0007 a0015c0012t0007	a0015c0012t0007g0349 a0015c0012t0007g0349	1	366	0.0027	29	c.125 others(46): Show c.125+2929_125+2930insAAAAAAATATATATATATATATATATAT A	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RY8_chrX_1457581_1542185	1468705	G G	GGAGAAGC others(22): Show GGAGAAGCGGAAGAGCGAAAGGAGGAGCCA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	114	0.0088	29	c.-24 others(46): Show c.-24-2124_-24-2123insTGGCTCCTCCTTTCGCTCTTCCGCTTCT C	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1512091	G G	GGGTCTCC others(22): Show GGGTCTCCTGTGTAAGAGTGTCCTGGGGAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	114	0.0088	29	c.-25 others(48): Show c.-25+24801_-25+24829dupATCCCCAGGACACTCTTACACAGGAG ACC	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PABPN1_chr14_23316457_23331163	23319823	A A	ATCTTGAG others(22): Show ATCTTGAGGTAAGGAATTGTGAGAAAAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	428	0.0023	29	c.-16 others(40): Show c.-1647_-1646insTCTTGAGGTAAGGAATTGTGAGAAAAAGT	PABPN1	ENSG00000100836.11	transcript	ENST00000216727.9	protein_coding		1633		chr14	TogoVar
PACRG_chr6_162722974_163320500	162852001	G G	GAGGAAGG others(22): Show GAGGAAGGAAGGAAGGAAGGAAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	130	0.0077	29	c.291 others(48): Show c.291+37723_291+37724insAAGGAAGGAAGGAAGGAAAGGAAGGA AGG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162852005	G G	GAGGAAGG others(22): Show GAGGAAGGAAGGAAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG03225.hp2 HG01884.hp2 HG02145.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0016 a0001c0001t0003 a0001c0001t0015 a0001c0001t0016	a0001c0001t0003g0022 a0001c0001t0015g0062 a0001c0001t0016g0059 a0001c0001t0003g0022 a0001c0001t0015g0062 a0001c0001t0016g0059	3	130	0.0231	29	c.291 others(48): Show c.291+37737_291+37738insAGGAAGGAAGGAAGGAAGGAAGGAAG GAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162947592	A A	ATACTCAT others(22): Show ATACTCATATATATATATAATCATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	130	0.0077	29	c.292 others(50): Show c.292-114558_292-114557insTACTCATATATATATATAATCATA TATAT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4			chr6	TogoVar
PACRG_chr6_162722974_163320500	163006211	T T	TATATATA others(22): Show TATATATATATGTATATATATATATATCCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG01934.hp2 others(5): Show HG01109.hp1 HG01884.hp2 HG01934.hp2 HG02145.hp1 HG02615.hp2 HG03225.hp2 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0016	a0001c0001t0001g0021 a0001c0001t0002g0037 a0001c0001t0002g0039 others(5): Show a0001c0001t0001g0021 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0022 a0001c0001t0015g0062 a0001c0001t0016g0059	8	130	0.0615	29	c.292 others(48): Show c.292-55929_292-55928insGTATATATATATATATCCCATATATA TAT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163206773	A A	AGAGAAAA others(22): Show AGAGAAAAGAGAAAACGTTCTCTTTTTGTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(58): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00741.hp2 HG01109.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01361.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18959.hp2 NA18965.hp2 NA18971.hp2 NA18989.hp1 NA19060.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0002t0010 a0001c0003t0003 a0001c0003t0009 a0001c0004t0003	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0017 others(58): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0002g0003 a0001c0001t0002g0024 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0058 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0119 a0001c0001t0004g0076 a0001c0001t0004g0084 a0001c0001t0005g0078 a0001c0001t0005g0081 a0001c0001t0008g0069 a0001c0001t0009g0088 a0001c0001t0013g0013 a0001c0001t0015g0062 a0001c0001t0016g0059 a0001c0002t0010g0027 a0001c0002t0010g0064 a0001c0003t0003g0061 a0001c0003t0003g0065 a0001c0003t0009g0080 a0001c0004t0003g0045	61	130	0.4692	29	c.614 others(50): Show c.614-108053_614-108052insAGAAAAGAGAAAACGTTCTCTTTT TGTTG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACSIN2_chr22_42864773_43020149	42982869	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02965.hp2 HG02895.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0076 a0001c0001t0002g0077	2	294	0.0068	29	c.-78 others(48): Show c.-78+32151_-78+32152insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PADI1_chr1_17200128_17251007	17248636	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0151	1	406	0.0025	29	c.43 others(40): Show c.4393_*4394insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding		2630		chr1	TogoVar
PADI3_chr1_17244098_17289233	17248636	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 NA18993.hp1 HG02027.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0020 a0001c0002t0001g0083 a0001c0001t0004g0020 a0001c0002t0001g0083	2	368	0.0054	29	c.-50 others(38): Show c.-502_-501insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PADI3	ENSG00000142619.4	transcript	ENST00000375460.3	protein_coding		461		chr1	TogoVar

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