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
OR6Q1_chr11_58025953_58036906	58034735	T T	TTTCCTTC others(33): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 NA18972.hp1 HG02647.hp1 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	2	416	0.0048	40	c.28 others(51): Show c.2829_*2830insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCC	OR6Q1	ENSG00000279051.5	transcript	ENST00000302622.4	protein_coding		2830		chr11	TogoVar
OR6Q1_chr11_58025953_58036906	58034767	C C	CTTCCTTC others(33): Show CTTCCTTCCTTCCTTCCTTCCTTCTTCCTTCCCTCCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01496.hp1 HG01943.hp2 others(3): Show HG00423.hp1 HG01496.hp1 HG01943.hp2 HG02074.hp1 NA18964.hp1 NA19087.hp1	a0003 a0003	a0003c0004 a0003c0009 a0003c0004 a0003c0009	a0003c0004t0000 a0003c0009t0000 a0003c0004t0000 a0003c0009t0000	a0003c0004t0000g0000 a0003c0009t0000g0000 a0003c0004t0000g0000 a0003c0009t0000g0000	6	416	0.0144	40	c.28 others(51): Show c.2861_*2862insTTCCTTCCTTCCTTCCTTCCTTCTTCCTTCCCTC CCTCCT	OR6Q1	ENSG00000279051.5	transcript	ENST00000302622.4	protein_coding		2862		chr11	TogoVar
OR6Q1_chr11_58025953_58036906	58034769	T T	TCCTTCCT others(33): Show TCCTTCCTTCCTTCCTTCTTCCTTCCCTCCCTCCTTTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00639.hp1 HG00673.hp1 others(8): Show HG00558.hp1 HG00639.hp1 HG00673.hp1 HG01257.hp1 HG01433.hp2 HG01496.hp2 HG02155.hp2 NA18942.hp1 NA18961.hp1 NA18999.hp2 NA19081.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0000 a0003c0004t0000 a0001c0001t0000 a0003c0004t0000	a0001c0001t0000g0000 a0003c0004t0000g0000 a0001c0001t0000g0000 a0003c0004t0000g0000	11	416	0.0264	40	c.28 others(51): Show c.2863_*2864insCCTTCCTTCCTTCCTTCTTCCTTCCCTCCCTCCT TTCTCC	OR6Q1	ENSG00000279051.5	transcript	ENST00000302622.4	protein_coding		2864		chr11	TogoVar
OR6Q1_chr11_58025953_58036906	58034792	C C	CCCTTCCT others(33): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	416	0.0024	40	c.28 others(51): Show c.2886_*2887insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTT	OR6Q1	ENSG00000279051.5	transcript	ENST00000302622.4	protein_coding		2887		chr11	TogoVar
OR8G1_chr11_124236095_124259364	124238625	A A	ATTGATCT others(33): Show ATTGATCTCTGCCATTCCACTGTCTTTACCCCCAAAATGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00423.hp2 others(211): Show HG00099.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19072.hp2 NA19074.hp2 NA19078.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0002 a0001c0003 a0001c0012 others(2): Show a0001c0002 a0001c0003 a0001c0012 a0004c0006 a0006c0010	a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 others(20): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0012 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0025 a0001c0002t0027 a0001c0002t0034 a0001c0002t0035 a0001c0002t0037 a0001c0003t0002 a0001c0003t0026 a0001c0003t0038 a0001c0003t0039 a0001c0003t0040 a0001c0012t0003 a0004c0006t0003 a0004c0006t0014 a0004c0006t0036 a0004c0006t0041 a0006c0010t0002	a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 others(41): Show a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 a0001c0002t0003g0028 a0001c0002t0003g0047 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0065 a0001c0002t0005g0005 a0001c0002t0005g0059 a0001c0002t0007g0009 a0001c0002t0012g0013 a0001c0002t0018g0029 a0001c0002t0018g0045 a0001c0002t0019g0030 a0001c0002t0019g0067 a0001c0002t0020g0022 a0001c0002t0025g0058 a0001c0002t0025g0060 a0001c0002t0027g0066 a0001c0002t0034g0046 a0001c0002t0035g0048 a0001c0002t0037g0068 a0001c0003t0002g0002 a0001c0003t0002g0016 a0001c0003t0002g0021 a0001c0003t0002g0044 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0057 a0001c0003t0026g0002 a0001c0003t0038g0051 a0001c0003t0039g0016 a0001c0003t0040g0002 a0001c0012t0003g0064 a0004c0006t0003g0056 a0004c0006t0014g0014 a0004c0006t0036g0014 a0004c0006t0041g0055 a0006c0010t0002g0002	214	430	0.4977	40	c.-28 others(51): Show c.-2836_-2835insTTGATCTCTGCCATTCCACTGTCTTTACCCCCAA AATGCT	OR8G1	ENSG00000197849.7	transcript	ENST00000641972.1	protein_coding		2469		chr11	TogoVar
OR8G1_chr11_124236095_124259364	124238625	A A	ATTGATCT others(33): Show ATTGATCTCTGCCATTCCACTGTTTTTACCCCCAAAATGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02486.hp2 NA19240.hp1 HG02258.hp1 HG02486.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0023 a0001c0002t0003g0023	3	430	0.0070	40	c.-28 others(51): Show c.-2836_-2835insTTGATCTCTGCCATTCCACTGTTTTTACCCCCAA AATGCT	OR8G1	ENSG00000197849.7	transcript	ENST00000641972.1	protein_coding		2469		chr11	TogoVar
OR8J3_chr11_56129721_56145201	56143758	G G	GCCCCATC others(33): Show GCCCCATCTGGGATGTGAGGAGCACCTCTGCCCGGCCGCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG02896.hp1 others(3): Show HG02622.hp1 HG02647.hp2 HG02896.hp1 HG03098.hp2 HG03579.hp1 HG06807.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0015 a0004c0004t0006 a0004c0004t0015	a0004c0004t0006g0009 a0004c0004t0015g0055 a0004c0004t0006g0009 a0004c0004t0015g0055	6	412	0.0146	40	c.-43 others(51): Show c.-4366_-4365insTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAG ATGGGG	OR8J3	ENSG00000167822.3	transcript	ENST00000642058.1	protein_coding		3558		chr11	TogoVar
OR8J3_chr11_56129721_56145201	56143758	G G	GCCCCGTC others(33): Show GCCCCGTCTGGGATGTGAGGAGCACCTCTGCCCGGCCGCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00558.hp2 others(65): Show HG00099.hp2 HG00323.hp1 HG00558.hp2 HG00609.hp2 HG00733.hp1 HG01081.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03688.hp1 NA18906.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18953.hp1 NA18954.hp2 NA18959.hp1 NA18961.hp2 NA18970.hp1 NA18974.hp2 NA18976.hp1 NA18977.hp2 NA18981.hp2 NA18991.hp1 NA18993.hp1 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19059.hp2 NA19062.hp1 NA19070.hp2 NA19072.hp1 NA19088.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0002c0008 others(2): Show a0001c0001 a0002c0002 a0002c0008 a0003c0003 a0007c0007	a0001c0001t0001 a0001c0001t0026 a0002c0002t0003 others(10): Show a0001c0001t0001 a0001c0001t0026 a0002c0002t0003 a0002c0002t0012 a0002c0002t0014 a0002c0002t0021 a0002c0002t0024 a0002c0008t0012 a0003c0003t0007 a0003c0003t0008 a0003c0003t0009 a0003c0003t0028 a0007c0007t0013	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0026g0028 others(16): Show a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0026g0028 a0002c0002t0003g0004 a0002c0002t0003g0048 a0002c0002t0003g0054 a0002c0002t0012g0052 a0002c0002t0014g0049 a0002c0002t0021g0051 a0002c0002t0024g0053 a0002c0008t0012g0050 a0003c0003t0007g0014 a0003c0003t0007g0045 a0003c0003t0008g0015 a0003c0003t0008g0022 a0003c0003t0009g0016 a0003c0003t0028g0047 a0007c0007t0013g0046 a0007c0007t0013g0056	68	412	0.1651	40	c.-43 others(51): Show c.-4366_-4365insTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAG ACGGGG	OR8J3	ENSG00000167822.3	transcript	ENST00000642058.1	protein_coding		3558		chr11	TogoVar
OR9A4_chr7_141911399_141925625	141913769	C C	CTAAAATA others(33): Show CTAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	446	0.0022	40	c.-28 others(51): Show c.-2898_-2897insTAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAA	OR9A4	ENSG00000258083.2	transcript	ENST00000641559.1	protein_coding		2629		chr7	TogoVar
OR9A4_chr7_141911399_141925625	141913841	A A	AAAATAAA others(33): Show AAAATAAAATAAAATAAAATAAAATAAGATAAGATAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	446	0.0022	40	c.-28 others(51): Show c.-2826_-2825insAAATAAAATAAAATAAAATAAAATAAGATAAGAT AAAAAT	OR9A4	ENSG00000258083.2	transcript	ENST00000641559.1	protein_coding		2557		chr7	TogoVar
OR9Q1_chr11_58018881_58186616	58034767	C C	CTTCCTTC others(33): Show CTTCCTTCCTTCCTTCCTTCCTTCTTCCTTCCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01943.hp2 HG02074.hp1 others(2): Show HG01496.hp1 HG01943.hp2 HG02074.hp1 NA18964.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0282 a0001c0001t0001g0302 a0001c0001t0001g0316 others(2): Show a0001c0001t0001g0282 a0001c0001t0001g0302 a0001c0001t0001g0316 a0001c0002t0001g0301 a0001c0002t0001g0315	5	324	0.0154	40	c.-93 others(59): Show c.-93+10666_-93+10667insCTTCCTTCCTTCCTTCCTTCTTCCTT CCCTCCCTCCTTTC	OR9Q1	ENSG00000186509.4	transcript	ENST00000335397.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
OR9Q1_chr11_58018881_58186616	58034769	T T	TCCTTCCT others(33): Show TCCTTCCTTCCTTCCTTCTTCCTTCCCTCCCTCCTTTCTCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG00673.hp1 others(5): Show HG00558.hp2 HG00639.hp1 HG00673.hp1 HG01257.hp2 HG01433.hp2 HG01496.hp2 NA18961.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0204 a0001c0001t0001g0306 a0001c0002t0001g0202 others(5): Show a0001c0001t0001g0204 a0001c0001t0001g0306 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0225 a0001c0002t0001g0227 a0001c0002t0001g0249 a0001c0002t0003g0226	8	324	0.0247	40	c.-93 others(59): Show c.-93+10666_-93+10667insCTTCCTTCCTTCCTTCTTCCTTCCCT CCCTCCTTTCTCCC	OR9Q1	ENSG00000186509.4	transcript	ENST00000335397.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
ORC3_chr6_87585135_87672451	87602954	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	378	0.0027	40	c.178 others(55): Show c.178-413_178-412insTATATATATATATATATATATATATATATA TATATATATA	ORC3	ENSG00000135336.16	transcript	ENST00000392844.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
OSBPL10_chr3_31655825_31986262	31740857	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03041.hp2 HG01175.hp1 HG03041.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0015 a0001c0001 a0003c0015	a0001c0001t0001 a0003c0015t0002 a0001c0001t0001 a0003c0015t0002	a0001c0001t0001g0111 a0003c0015t0002g0009 a0001c0001t0001g0111 a0003c0015t0002g0009	2	186	0.0108	40	c.940 others(57): Show c.940+7052_940+7053insTATATATATATATATATATATATATATA TATATATATATA	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	5/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31761813	T T	TAAAAAAA others(33): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02895.hp1 HG02055.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0098 a0001c0001t0002g0146 a0001c0001t0001g0098 a0001c0001t0002g0146	2	186	0.0108	40	c.730 others(59): Show c.730-13694_730-13693insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11			chr3	TogoVar
OSBPL1A_chr18_24157052_24402824	24287772	A A	AAACATAA others(33): Show AAACATAAAATAAATAAAATAAAATAAAATAAATAAAATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	206	0.0049	40	c.117 others(59): Show c.1175-6825_1175-6824insATATTTTATTTATTTTATTTTATTTT ATTTATTTTATGTT	OSBPL1A	ENSG00000141447.19	transcript	ENST00000319481.8	protein_coding	14/27			chr18	TogoVar
OSBPL5_chr11_3082107_3170310	3103815	C C	CCTGCGCA others(33): Show CCTGCGCAGCCCCCTTCCTGCCTCTGCAGCCCCTTTCCAGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	326	0.0031	40	c.124 others(57): Show c.1244+377_1244+378insACTGGAAAGGGGCTGCAGAGGCAGGAAG GGGGCTGCGCAG	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21			chr11	TogoVar
OSBPL5_chr11_3082107_3170310	3103879	T T	TGCCGCCC others(33): Show TGCCGCCCCCTTCCTGCCTCTGCAGCCCCTTTCCAGTCTGC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0291 a0002c0003t0001g0291	1	326	0.0031	40	c.124 others(57): Show c.1244+313_1244+314insGCAGACTGGAAAGGGGCTGCAGAGGCAG GAAGGGGGCGGC	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21			chr11	TogoVar
OSCAR_chr19_54089668_54105803	54089940	G G	GTTTTTTT others(33): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00733.hp2 HG00741.hp2 others(10): Show HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01099.hp2 HG01255.hp1 HG01261.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG03704.hp1 HG03831.hp2 NA18971.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0055 a0001c0001t0001g0070 a0001c0001t0001g0121 a0001c0001t0001g0165 a0001c0001t0001g0234 a0001c0001t0001g0275 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0003t0001g0330	13	443	0.0294	40	c.52 others(51): Show c.5280_*5281insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding		4727		chr19	TogoVar
OSCAR_chr19_54089668_54105803	54101538	T T	TCAGATAG others(33): Show TCAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02074.hp1 NA18986.hp1 others(1): Show HG00621.hp1 HG02074.hp1 NA18986.hp1 NA18986.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0221 a0002c0002t0001g0030 a0001c0001t0001g0001 a0001c0001t0001g0221 a0002c0002t0001g0030	4	443	0.0090	40	c.-74 others(49): Show c.-747_-746insTCTATCTATCTATCTATCTATCTATCTATCTATCTA TCTG	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding		736		chr19	TogoVar
OSCAR_chr19_54089668_54105803	54101538	T T	TTAGATAG others(33): Show TTAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 NA19083.hp1 HG02273.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0193 a0002c0002t0001g0140 a0001c0003t0001g0193 a0002c0002t0001g0140	2	443	0.0045	40	c.-74 others(49): Show c.-747_-746insTCTATCTATCTATCTATCTATCTATCTATCTATCTA TCTA	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding		736		chr19	TogoVar
OSCP1_chr1_36412906_36455451	36427299	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0260 a0004c0004t0001g0260	1	380	0.0026	40	c.517 others(57): Show c.517-3834_517-3833insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	OSCP1	ENSG00000116885.18	transcript	ENST00000235532.9	protein_coding	4/9			chr1	TogoVar
OSGIN1_chr16_83948240_83971332	83951752	C C	CCCTGCCT others(33): Show CCCTGCCTTCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02056.hp1 HG02622.hp2 others(4): Show HG01243.hp2 HG02056.hp1 HG02622.hp2 HG03453.hp2 NA18955.hp2 NA18960.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0012 a0001c0001 a0001c0007 a0001c0012	a0001c0001t0002 a0001c0001t0003 a0001c0007t0003 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0007t0003 a0001c0012t0003	a0001c0001t0002g0012 a0001c0001t0002g0186 a0001c0001t0003g0182 others(2): Show a0001c0001t0002g0012 a0001c0001t0002g0186 a0001c0001t0003g0182 a0001c0007t0003g0175 a0001c0012t0003g0185	7	350	0.0200	40	c.-16 others(51): Show c.-1651_-1650insCCTGCCTTCCTCCCTCCTTCCCTCCCTCCCTCCT TCCCTT	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1487		chr16	TogoVar
OSTF1_chr9_75083514_75152265	75139027	C C	CTTCTTTC others(33): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02818.hp1 HG04228.hp2 others(1): Show HG01123.hp1 HG02818.hp1 HG04228.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0057 a0001c0001t0002g0089 a0001c0001t0002g0148 others(1): Show a0001c0001t0002g0057 a0001c0001t0002g0089 a0001c0001t0002g0148 a0001c0001t0007g0055	4	366	0.0109	40	c.487 others(57): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTOGL_chr12_80094537_80385880	80135277	C C	CCCCTCCC others(33): Show CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCCTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0019 a0005c0016t0001g0019	1	168	0.0060	40	c.-20 others(59): Show c.-20+35676_-20+35677insCCCCTCCCCTCCCCTCCCCTCCCCTT CCCTTCCCTTCCCT	OTOGL	ENSG00000165899.12	transcript	ENST00000547103.7	protein_coding	1/58		INFO_REALIGN_3_PRIME	chr12	TogoVar
OTOP1_chr4_4183726_4231929	4219837	A A	ATATATAT others(33): Show ATATATATACACATATACATGTATATATGTATACATATATG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0225 a0002c0003t0001g0225	1	428	0.0023	40	c.403 others(57): Show c.403+6585_403+6624dupCATATATGTATACATATATACATGTATA TGTGTATATATA	OTOP1	ENSG00000163982.6	transcript	ENST00000296358.5	protein_coding	1/5			chr4	TogoVar
OTUD7A_chr15_31470398_31875673	31860622	G G	GATAAATA others(33): Show GATAAATATACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA18612.hp1 NA18939.hp1 HG02148.hp1 NA18612.hp1 NA18939.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0008 a0001c0002t0001 a0002c0003t0008	a0001c0002t0001g0038 a0001c0002t0001g0039 a0002c0003t0008g0040 a0001c0002t0001g0038 a0001c0002t0001g0039 a0002c0003t0008g0040	3	244	0.0123	40	c.-10 others(59): Show c.-100+9884_-100+9885insATATATATATATATATATATATATAT ATATGTATATTTAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OXCT1_chr5_41725065_41875425	41859891	T T	TATATATA others(33): Show TATATATATATATATGTAATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03927.hp1 HG04199.hp1 others(1): Show HG03490.hp2 HG03927.hp1 HG04199.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0140 others(1): Show a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0140 a0001c0001t0001g0142	4	200	0.0200	40	c.278 others(57): Show c.278+1422_278+1423insTACATATATATATATATATATATTACAT ATATATATATAT	OXCT1	ENSG00000083720.13	transcript	ENST00000196371.10	protein_coding	3/16			chr5	TogoVar
P2RX2_chr12_132613776_132627388	132618228	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	386	0.0026	40	c.-58 others(49): Show c.-589_-588insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding		547		chr12	TogoVar
P2RX4_chr12_121205129_121239106	121212824	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19007.hp2 NA19003.hp1 NA19007.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0234 a0001c0004t0001g0235 a0001c0004t0001g0234 a0001c0004t0001g0235	2	388	0.0052	40	c.134 others(57): Show c.134+2527_134+2528insATATATATATATATATATATATATATAT ATATATTTTTTT	P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX4_chr12_121205129_121239106	121212824	A A	ATATATAT others(33): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0339 a0001c0003t0001g0339	1	388	0.0026	40	c.134 others(57): Show c.134+2527_134+2528insATATATATATATATATATATATTTTTTT TTTTTTTTTTTT	P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121130820	A A	AGAAAGAA others(33): Show AGAAAGAAAGAAAAGACAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02109.hp2 HG02451.hp2 others(7): Show HG02027.hp1 HG02109.hp2 HG02451.hp2 HG02723.hp1 HG02970.hp1 HG02970.hp2 HG03669.hp2 NA19043.hp2 NA19060.hp1 NA19085.hp2	a0002 a0004 a0005 others(5): Show a0002 a0004 a0005 a0007 a0008 a0016 a0019 a0032	a0002c0033 a0004c0003 a0005c0006 others(5): Show a0002c0033 a0004c0003 a0005c0006 a0007c0008 a0008c0007 a0016c0016 a0019c0022 a0032c0035	a0002c0033t0001 a0004c0003t0007 a0005c0006t0003 others(5): Show a0002c0033t0001 a0004c0003t0007 a0005c0006t0003 a0007c0008t0001 a0008c0007t0002 a0016c0016t0002 a0019c0022t0005 a0032c0035t0002	a0002c0033t0001g0342 a0004c0003t0007g0354 a0005c0006t0003g0358 others(7): Show a0002c0033t0001g0342 a0004c0003t0007g0354 a0005c0006t0003g0358 a0007c0008t0001g0307 a0008c0007t0002g0318 a0008c0007t0002g0319 a0008c0007t0002g0334 a0016c0016t0002g0075 a0019c0022t0005g0308 a0032c0035t0002g0254	10	366	0.0273	40	c.-21 others(51): Show c.-2151_-2150insGAAAGAAAGAAAAGACAAAGAAAGAAAGAAAGAA AGAAAG	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding		2055		chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(33): Show AAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0336 a0002c0002t0003g0336	1	366	0.0027	40	c.125 others(57): Show c.125+2929_125+2930insAAAAAAAAAATATATATATATATATATA TATATATATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RY8_chrX_1457581_1542185	1468722	C C	CCTCCTCC others(33): Show CCTCCTCCTCTCTCCTCTCTCCTCTCTCCCCTCTCTCCTCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0027 a0001c0001t0022g0027	1	114	0.0088	40	c.-24 others(57): Show c.-24-2141_-24-2140insAGAGGAGAGAGGGGAGAGAGGAGAGAGG AGAGAGGAGGAG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1509741	G G	GTATCTAT others(33): Show GTATCTATCTATGTATCTATGTATCTATCTATGTATCTATC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02165.hp1 HG02451.hp2 others(3): Show HG00544.hp2 HG02165.hp1 HG02451.hp2 HG02897.hp2 NA18970.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0003t0011 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0003t0011 a0001c0003t0012	a0001c0001t0001g0005 a0001c0001t0001g0082 a0001c0001t0001g0095 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0007g0074 a0001c0003t0011g0002 a0001c0003t0012g0001	6	114	0.0526	40	c.-25 others(59): Show c.-25+27179_-25+27180insGATAGATACATAGATAGATACATAGA TACATAGATAGATA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P3H2_chr3_189951728_190125897	190007959	G G	GACACACA others(33): Show GACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0080 a0001c0001t0011g0080	1	304	0.0033	40	c.481 others(59): Show c.481-12518_481-12517insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(33): Show CACACACACACACACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA19088.hp2 NA18992.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0042 a0001c0002t0003g0161 a0001c0002t0003g0042 a0001c0002t0003g0161	2	304	0.0066	40	c.481 others(59): Show c.481-12524_481-12523insATATATATATATATATATATATATAT GTGTGTGTGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(33): Show CACACACACACACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03195.hp2 HG02135.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0007 a0001c0002t0003 a0001c0003t0007	a0001c0002t0003g0137 a0001c0003t0007g0081 a0001c0002t0003g0137 a0001c0003t0007g0081	2	304	0.0066	40	c.481 others(59): Show c.481-12524_481-12523insATATATATATATATATATATATATAT ATGTGTGTGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190041020	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0112 a0001c0002t0004g0112	1	304	0.0033	40	c.481 others(59): Show c.481-45579_481-45578insTATATATATATATATATATATATATA TATATATATATATA	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190097636	C C	CACAACAA others(33): Show CACAACAATAAAATTATTTTATTGTTGTTGGATTACCCACA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02735.hp2 HG01361.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0078 a0001c0003t0001g0225 a0001c0001t0001g0078 a0001c0003t0001g0225	2	304	0.0066	40	c.480 others(59): Show c.480+22615_480+22616insTGTGGGTAATCCAACAACAATAAAAT AATTTTATTGTTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P4HA2_chr5_132185147_132232853	132208421	G G	GGGGGAGG others(33): Show GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0103 a0001c0001t0033g0103	1	426	0.0024	40	c.904 others(55): Show c.904-538_904-537insTCTCCCCTCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCC	P4HA2	ENSG00000072682.20	transcript	ENST00000360568.8	protein_coding	7/14			chr5	TogoVar
PAAF1_chr11_73871999_73936114	73897400	T T	TGGGCGGA others(33): Show TGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGTGGCTGCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0040 a0001c0008t0040	a0001c0008t0040g0263 a0001c0008t0040g0263	1	370	0.0027	40	c.283 others(57): Show c.283-1714_283-1713insTGGCTGCCGGGCGGAGGGGCTCCTCACT TCTCAGACGGGG	PAAF1	ENSG00000175575.13	transcript	ENST00000310571.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PABIR3_chrX_134802237_134859832	134828047	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	199	0.0050	40	c.190 others(57): Show c.190-1178_190-1177insCTCTCTCTCTCTCTCTATATATATATAT ATATATATATAT	PABIR3	ENSG00000156500.16	transcript	ENST00000645433.2	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PACRG_chr6_162722974_163320500	162892864	A A	AAGAACCA others(33): Show AAGAACCACCTCAGCCTCAGGAGCCTCGGCCCACACCCCAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG02572.hp2 others(7): Show HG02258.hp2 HG02451.hp1 HG02572.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02976.hp1 HG03453.hp2 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0002t0018	a0001c0001t0001g0004 a0001c0001t0002g0042 a0001c0001t0002g0043 others(7): Show a0001c0001t0001g0004 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0003g0014 a0001c0001t0003g0068 a0001c0001t0003g0102 a0001c0001t0003g0119 a0001c0001t0009g0088 a0001c0002t0018g0063	10	130	0.0769	40	c.291 others(59): Show c.291+78628_291+78667dupCCACCTCAGCCTCAGGAGCCTCGGCC CACACCCCAGAGAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162947595	C C	CATATATA others(33): Show CATATATATATATAATCATATATATATATATATAATCATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02109.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0028 a0001c0001t0003g0016 a0001c0001t0003g0028	2	130	0.0154	40	c.292 others(61): Show c.292-114522_292-114521insATCATATATATATATATATAATCA TATATATATATATATA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162981305	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	130	0.0077	40	c.292 others(59): Show c.292-80844_292-80843insATATATATATATATATATATATATAT ATATATATATATTT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163197419	A A	ATTTTCTT others(33): Show ATTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	130	0.0077	40	c.613 others(61): Show c.613+108030_613+108031insCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163230732	T T	TGAAGAAC others(33): Show TGAAGAACGCAGGATGGTGTGTAATGCCGAACTGCTGTAGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00741.hp2 others(27): Show HG00280.hp2 HG00323.hp1 HG00741.hp2 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01891.hp2 HG02055.hp2 HG02145.hp2 HG02257.hp2 HG02451.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18955.hp2 NA18959.hp1 NA18981.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0002t0010 a0001c0003t0009 a0001c0004t0003	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0038 others(27): Show a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0002g0024 a0001c0001t0002g0037 a0001c0001t0002g0043 a0001c0001t0002g0054 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0018 a0001c0001t0003g0049 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0005g0072 a0001c0001t0008g0069 a0001c0001t0009g0088 a0001c0001t0013g0013 a0001c0002t0010g0064 a0001c0003t0009g0080 a0001c0004t0003g0045	30	130	0.2308	40	c.614 others(59): Show c.614-84094_614-84055dupGAAGAACGCAGGATGGTGTGTAATGC CGAACTGCTGTAGG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS2_chr14_105309748_105403147	105370278	C C	CCCCCCAC others(33): Show CCCCCCACTATTGACATGGACCCCCCTTCCCACCTGACAGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG02896.hp1 others(3): Show HG01891.hp2 HG02559.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1 HG06807.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0013 a0002c0002 a0005c0013	a0002c0002t0003 a0002c0002t0012 a0005c0013t0045 a0002c0002t0003 a0002c0002t0012 a0005c0013t0045	a0002c0002t0003g0181 a0002c0002t0003g0182 a0002c0002t0003g0183 others(3): Show a0002c0002t0003g0181 a0002c0002t0003g0182 a0002c0002t0003g0183 a0002c0002t0012g0197 a0002c0002t0012g0198 a0005c0013t0045g0024	6	210	0.0286	40	c.801 others(55): Show c.801+396_801+397insACCCCCCTTCCCACCTGACAGTCCCCCACT ATTGACATGG	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PADI1_chr1_17200128_17251007	17235277	A A	AGGAAGGA others(33): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG01123.hp1 others(13): Show HG00140.hp2 HG00408.hp1 HG01123.hp1 HG01192.hp1 HG01516.hp1 HG01517.hp2 HG02083.hp1 HG02132.hp2 HG02165.hp2 HG02922.hp1 HG04199.hp1 NA18612.hp2 NA18951.hp1 NA18970.hp2 NA18989.hp2 NA19009.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0017 a0001c0029 a0001c0034 a0003c0030	a0001c0001t0012 a0001c0002t0001 a0001c0004t0001 others(4): Show a0001c0001t0012 a0001c0002t0001 a0001c0004t0001 a0001c0017t0001 a0001c0029t0001 a0001c0034t0001 a0003c0030t0001	a0001c0001t0012g0049 a0001c0002t0001g0055 a0001c0002t0001g0084 others(12): Show a0001c0001t0012g0049 a0001c0002t0001g0055 a0001c0002t0001g0084 a0001c0002t0001g0090 a0001c0002t0001g0148 a0001c0002t0001g0167 a0001c0002t0001g0238 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0315 a0001c0004t0001g0004 a0001c0017t0001g0020 a0001c0029t0001g0155 a0001c0034t0001g0025 a0003c0030t0001g0112	16	406	0.0394	40	c.131 others(59): Show c.1314-2022_1314-2021insAGGAAGGAAGGAAGGAAGGAAGGAGG GAAGGAAGGAAGGA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results (Total: 6641 hits)