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.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
ATG3_chr3_112527510_112566962	112529516	A A	AAGTTGTG others(10): Show AAGTTGTGAATTTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	376	0.0027	17	c.31 others(28): Show c.3182_*3183insCAAAAAAATTCACAACT	ATG3	ENSG00000144848.11	transcript	ENST00000283290.10	protein_coding		2993		chr3	TogoVar
ATG7_chr3_11267397_11562665	11378027	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02630.hp1 HG02683.hp1 others(5): Show HG01106.hp2 HG02630.hp1 HG02683.hp1 HG02723.hp1 HG02896.hp2 HG03540.hp1 HG03942.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0007 a0001c0002t0042	a0001c0001t0001g0199 a0001c0001t0002g0192 a0001c0001t0002g0197 others(5): Show a0001c0001t0001g0199 a0001c0001t0002g0192 a0001c0001t0002g0197 a0001c0002t0001g0175 a0001c0002t0001g0179 a0001c0002t0007g0173 a0001c0002t0007g0176 a0001c0002t0042g0170	8	292	0.0274	17	c.187 others(36): Show c.1876-1943_1876-1927dupTTTTTTTTTTTTTTTTT	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11440674	C C	CATTTTTT others(10): Show CATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG06807.hp2 NA19030.hp2 HG02615.hp2 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0046 a0001c0001t0005 a0001c0001t0046	a0001c0001t0005g0149 a0001c0001t0005g0245 a0001c0001t0046g0118 a0001c0001t0005g0149 a0001c0001t0005g0245 a0001c0001t0046g0118	3	292	0.0103	17	c.207 others(38): Show c.2079+13748_2079+13749insATTTTTTTTTTTTTTTT	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20			chr3	TogoVar
ATG7_chr3_11267397_11562665	11475908	C C	CACACACA others(10): Show CACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02083.hp1 HG03486.hp2 HG01496.hp2 HG02083.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0046 a0001c0001t0001g0084 a0001c0002t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0084 a0001c0002t0001g0045	3	292	0.0103	17	c.207 others(38): Show c.2079+48982_2079+48983insACACACACACACACACA	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20			chr3	TogoVar
ATG7_chr3_11267397_11562665	11497392	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	292	0.0034	17	c.208 others(38): Show c.2080-57419_2080-57418insATATATATATATATATA	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20			chr3	TogoVar
ATL2_chr2_38288954_38382273	38329423	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04228.hp1 HG04199.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0108 a0001c0001t0009g0089 a0001c0001t0002g0108 a0001c0001t0009g0089	2	236	0.0085	17	c.364 others(36): Show c.364-10421_364-10405dupTTTTTTTTTTTTTTTTT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATL2_chr2_38288954_38382273	38337486	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0083 a0001c0001t0002g0061 a0001c0001t0002g0083	2	236	0.0085	17	c.363 others(34): Show c.363+5765_363+5781dupTTTTTTTTTTTTTTTTT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATOSA_chr15_52576321_52684388	52672172	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0118 a0004c0005t0001g0118	1	362	0.0028	17	c.16+ others(32): Show c.16+5817_16+5833dupTTTTTTTTTTTTTTTTT	ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding	2/12			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160669918	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp1 HG02027.hp1 others(8): Show HG00099.hp2 HG00621.hp1 HG02027.hp1 HG02027.hp2 HG02080.hp1 HG02647.hp2 HG02970.hp2 HG02976.hp1 NA19004.hp2 NA19009.hp1 NA19030.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0011c0019 a0001c0001 a0001c0002 a0011c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0029 a0001c0002t0005 a0001c0002t0007 a0001c0002t0053 a0011c0019t0048	a0001c0001t0001g0123 a0001c0001t0003g0092 a0001c0001t0003g0093 others(8): Show a0001c0001t0001g0123 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0008g0135 a0001c0001t0008g0173 a0001c0001t0029g0139 a0001c0002t0005g0127 a0001c0002t0007g0167 a0001c0002t0007g0229 a0001c0002t0053g0236 a0011c0019t0048g0113	11	236	0.0466	17	c.675 others(32): Show c.675+544_675+545insTTTTTTTTTTTTTTTTT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160704914	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0024 a0001c0006t0024	a0001c0006t0024g0109 a0001c0006t0024g0109	1	236	0.0042	17	c.-20 others(38): Show c.-205+11978_-205+11994dupAAAAAAAAAAAAAAAAA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	3/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112787731	G G	GGTGTCCT others(10): Show GGTGTCCTAATTCACACC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03209.hp2 HG02717.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0008 a0001c0001t0001 a0001c0002t0008	a0001c0001t0001g0065 a0001c0002t0008g0066 a0001c0001t0001g0065 a0001c0002t0008g0066	2	254	0.0079	17	c.162 others(34): Show c.162+2475_162+2476insTGTCCTAATTCACACCG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11C_chrX_139721348_139938053	139760341	C C	CCTGGCTA others(10): Show CCTGGCTACCAGCAGATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01175.hp1 HG01496.hp2 others(18): Show HG00639.hp2 HG01175.hp1 HG01496.hp2 HG01891.hp2 HG02109.hp1 HG02572.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03516.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0001t0011 a0001c0001t0019 others(4): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0019 a0001c0001t0021 a0001c0001t0025 a0001c0001t0031 a0001c0008t0020	a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 others(18): Show a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0011g0036 a0001c0001t0019g0031 a0001c0001t0021g0030 a0001c0001t0025g0035 a0001c0001t0031g0218 a0001c0008t0020g0025	21	234	0.0897	17	c.264 others(36): Show c.2640+1603_2640+1619dupTATCTGCTGGTAGCCAG	ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	22/29			chrX	TogoVar
ATP11C_chrX_139721348_139938053	139866343	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02004.hp2 HG02080.hp2 others(4): Show HG01261.hp1 HG02004.hp2 HG02080.hp2 NA18941.hp1 NA18968.hp2 NA19006.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0016 a0002c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0016 a0002c0002t0002 a0002c0002t0005 a0002c0002t0029	a0001c0001t0002g0057 a0001c0001t0016g0003 a0002c0002t0002g0043 others(4): Show a0001c0001t0002g0057 a0001c0001t0016g0003 a0002c0002t0002g0043 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0005g0011 a0002c0002t0029g0213	7	234	0.0299	17	c.28- others(34): Show c.28-39537_28-39521dupTTTTTTTTTTTTTTTTT	ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	1/29			chrX	TogoVar
ATP13A3_chr3_194397677_194492002	194409693	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	304	0.0033	17	c.357 others(36): Show c.3573+2489_3573+2505dupAAAAAAAAAAAAAAAAA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	33/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421944	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0024 a0001c0001t0004g0025	2	304	0.0066	17	c.331 others(36): Show c.3314-1994_3314-1978dupTTTTTTTTTTTTTTTTT	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A4_chr3_193393967_193559895	193541248	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19043.hp1 HG03195.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0129 a0002c0002t0001g0130	2	302	0.0066	17	c.60+ others(34): Show c.60+13475_60+13491dupTTTTTTTTTTTTTTTTT	ATP13A4	ENSG00000127249.15	transcript	ENST00000342695.9	protein_coding	1/29			chr3	TogoVar
ATP1A4_chr1_160146603_160191980	160186086	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG04204.hp2 others(4): Show HG00642.hp2 HG00735.hp1 HG04204.hp2 NA18956.hp1 NA18956.hp2 NA18984.hp2 NA19088.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0013	a0001c0036 a0002c0002 a0002c0006 others(3): Show a0001c0036 a0002c0002 a0002c0006 a0005c0014 a0005c0018 a0013c0029	a0001c0036t0001 a0002c0002t0002 a0002c0006t0002 others(3): Show a0001c0036t0001 a0002c0002t0002 a0002c0006t0002 a0005c0014t0001 a0005c0018t0001 a0013c0029t0002	a0001c0036t0001g0303 a0002c0002t0002g0151 a0002c0006t0002g0005 others(3): Show a0001c0036t0001g0303 a0002c0002t0002g0151 a0002c0006t0002g0005 a0005c0014t0001g0292 a0005c0018t0001g0050 a0013c0029t0002g0124	7	418	0.0168	17	c.297 others(34): Show c.2970-184_2970-168dupAAAAAAAAAAAAAAAAA	ATP1A4	ENSG00000132681.17	transcript	ENST00000368081.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP1A4_chr1_160146603_160191980	160191838	T T	TGGCCTGG others(10): Show TGGCCTGGCATTCAGATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(126): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00642.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01192.hp1 HG01243.hp2 HG01261.hp2 HG01358.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01981.hp2 HG02055.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18951.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA18985.hp2 NA18991.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19030.hp2 NA19054.hp1 NA19055.hp2 NA19068.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0015 a0017 a0019 a0021 a0023 a0027 a0028	a0001c0001 a0001c0003 a0001c0004 others(31): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0019 a0001c0034 a0001c0045 a0002c0002 a0002c0006 a0002c0008 a0002c0009 a0002c0010 a0002c0013 a0002c0022 a0003c0007 a0003c0017 a0004c0012 a0004c0021 a0005c0014 a0005c0018 a0006c0015 a0007c0016 a0008c0025 a0009c0032 a0009c0033 a0010c0028 a0012c0027 a0015c0047 a0017c0049 a0019c0041 a0021c0050 a0023c0057 a0027c0059 a0028c0060	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(41): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0001c0003t0005 a0001c0003t0006 a0001c0004t0001 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0005t0005 a0001c0019t0001 a0001c0034t0008 a0001c0045t0001 a0002c0002t0002 a0002c0006t0001 a0002c0006t0002 a0002c0008t0001 a0002c0009t0002 a0002c0010t0002 a0002c0010t0007 a0002c0010t0012 a0002c0013t0002 a0002c0022t0001 a0003c0007t0001 a0003c0017t0001 a0004c0012t0001 a0004c0021t0001 a0005c0014t0001 a0005c0018t0001 a0006c0015t0001 a0007c0016t0001 a0008c0025t0001 a0009c0032t0001 a0009c0033t0001 a0010c0028t0001 a0012c0027t0001 a0015c0047t0004 a0017c0049t0001 a0019c0041t0001 a0021c0050t0001 a0023c0057t0002 a0027c0059t0010 a0028c0060t0013	a0001c0001t0001g0067 a0001c0001t0001g0103 a0001c0001t0001g0255 others(123): Show a0001c0001t0001g0067 a0001c0001t0001g0103 a0001c0001t0001g0255 a0001c0001t0001g0262 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0342 a0001c0001t0001g0347 a0001c0001t0003g0247 a0001c0001t0003g0382 a0001c0001t0004g0004 a0001c0003t0001g0020 a0001c0003t0001g0046 a0001c0003t0001g0048 a0001c0003t0001g0068 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0090 a0001c0003t0001g0279 a0001c0003t0001g0345 a0001c0003t0005g0212 a0001c0003t0006g0078 a0001c0003t0006g0085 a0001c0003t0006g0086 a0001c0003t0006g0108 a0001c0004t0001g0012 a0001c0004t0001g0038 a0001c0004t0001g0089 a0001c0004t0001g0236 a0001c0004t0001g0237 a0001c0004t0001g0238 a0001c0004t0001g0254 a0001c0004t0001g0306 a0001c0004t0001g0317 a0001c0004t0001g0320 a0001c0004t0001g0332 a0001c0004t0001g0376 a0001c0005t0001g0036 a0001c0005t0001g0037 a0001c0005t0001g0065 a0001c0005t0001g0104 a0001c0005t0001g0113 a0001c0005t0001g0116 a0001c0005t0001g0117 a0001c0005t0001g0274 a0001c0005t0001g0344 a0001c0005t0001g0346 a0001c0005t0001g0349 a0001c0005t0001g0354 a0001c0005t0001g0355 a0001c0005t0001g0356 a0001c0005t0001g0395 a0001c0005t0003g0277 a0001c0005t0004g0095 a0001c0005t0004g0098 a0001c0005t0005g0210 a0001c0005t0005g0211 a0001c0019t0001g0401 a0001c0019t0001g0402 a0001c0034t0008g0099 a0001c0045t0001g0058 a0002c0002t0002g0121 a0002c0002t0002g0145 a0002c0002t0002g0151 a0002c0002t0002g0162 a0002c0002t0002g0168 a0002c0002t0002g0170 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0362 a0002c0002t0002g0364 a0002c0006t0001g0225 a0002c0006t0001g0226 a0002c0006t0002g0133 a0002c0006t0002g0141 a0002c0006t0002g0196 a0002c0008t0001g0009 a0002c0008t0001g0214 a0002c0008t0001g0216 a0002c0008t0001g0217 a0002c0008t0001g0219 a0002c0008t0001g0371 a0002c0009t0002g0128 a0002c0009t0002g0132 a0002c0009t0002g0200 a0002c0009t0002g0353 a0002c0010t0002g0120 a0002c0010t0002g0126 a0002c0010t0002g0130 a0002c0010t0002g0350 a0002c0010t0007g0131 a0002c0010t0012g0357 a0002c0013t0002g0001 a0002c0013t0002g0178 a0002c0022t0001g0221 a0003c0007t0001g0025 a0003c0017t0001g0298 a0003c0017t0001g0301 a0004c0012t0001g0040 a0004c0021t0001g0289 a0004c0021t0001g0290 a0004c0021t0001g0291 a0005c0014t0001g0292 a0005c0018t0001g0002 a0006c0015t0001g0059 a0006c0015t0001g0060 a0006c0015t0001g0061 a0006c0015t0001g0063 a0007c0016t0001g0272 a0008c0025t0001g0101 a0008c0025t0001g0102 a0009c0032t0001g0372 a0009c0033t0001g0222 a0010c0028t0001g0080 a0010c0028t0001g0088 a0012c0027t0001g0018 a0015c0047t0004g0352 a0017c0049t0001g0399 a0019c0041t0001g0049 a0021c0050t0001g0228 a0023c0057t0002g0368 a0027c0059t0010g0072 a0028c0060t0013g0227	129	418	0.3086	17	c.51 others(28): Show c.5139_*5140insGGCCTGGCATTCAGATA	ATP1A4	ENSG00000132681.17	transcript	ENST00000368081.9	protein_coding		4859		chr1	TogoVar
ATP1B3_chr3_141871643_141931549	141874438	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	408	0.0025	17	c.-23 others(28): Show c.-2364_-2363insAAAAAAAAAATATATAT	ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding		2204		chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141874438	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	408	0.0025	17	c.-23 others(28): Show c.-2364_-2363insAAAAAATATATATATAT	ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding		2204		chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141874438	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	408	0.0025	17	c.-23 others(28): Show c.-2364_-2363insAAAATATATATATATAT	ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding		2204		chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141874438	A A	ATATATAT others(10): Show ATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02738.hp2 NA18982.hp1 HG02451.hp1 HG02738.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0049 a0001c0001t0003g0075 a0001c0001t0008g0094 a0001c0001t0003g0049 a0001c0001t0003g0075 a0001c0001t0008g0094	3	408	0.0074	17	c.-23 others(28): Show c.-2364_-2363insTATATATATATATATAT	ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding		2204		chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141879777	T T	TCAAAAAA others(10): Show TCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03834.hp1 NA19000.hp1 others(1): Show HG02735.hp2 HG03834.hp1 NA19000.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0339 others(1): Show a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0004g0340	4	408	0.0098	17	c.109 others(34): Show c.109+2879_109+2880insAAAAACAAAAAAAAAAA	ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP2A1_chr16_28873488_28909466	28906069	A A	AAAAAAAC others(10): Show AAAAAAACAAAAGCTAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	380	0.0026	17	c.19 others(28): Show c.1927_*1928insAAAAAACAAAAGCTAGC	ATP2A1	ENSG00000196296.14	transcript	ENST00000395503.9	protein_coding		1604		chr16	TogoVar
ATP2A3_chr17_3918873_3969437	3924657	C C	CGGGGAAC others(10): Show CGGGGAACCCTGAGTCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0245 a0001c0001t0033g0245	1	332	0.0030	17	c.74 others(26): Show c.748_*764dupTGGACTCAGGGTTCCCC	ATP2A3	ENSG00000074370.18	transcript	ENST00000397041.8	protein_coding	21/21	764		chr17	TogoVar
ATP2A3_chr17_3918873_3969437	3965877	T T	TTATTATT others(10): Show TTATTATTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 NA19003.hp1 HG02886.hp1 NA19003.hp1	a0001 a0001	a0001c0009 a0001c0012 a0001c0009 a0001c0012	a0001c0009t0001 a0001c0012t0001 a0001c0009t0001 a0001c0012t0001	a0001c0009t0001g0104 a0001c0012t0001g0040 a0001c0009t0001g0104 a0001c0012t0001g0040	2	332	0.0060	17	c.-15 others(28): Show c.-1587_-1586insTAATAATAATAATAATA	ATP2A3	ENSG00000074370.18	transcript	ENST00000397041.8	protein_coding		1441		chr17	TogoVar
ATP2B1_chr12_89583049_89713838	89583790	C C	CGGGGGGG others(10): Show CGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0306 a0003c0010t0001g0306	1	332	0.0030	17	c.71 others(28): Show c.7193_*7194insCCCCCCCCCCCCCCCCC	ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding		4258		chr12	TogoVar
ATP2B1_chr12_89583049_89713838	89630773	A A	ATATATAA others(10): Show ATATATAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03139.hp2 HG01884.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0001 a0001c0002t0012g0001	2	332	0.0060	17	c.788 others(32): Show c.788-145_788-129dupATATATATATTTATATA	ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	5/20			chr12	TogoVar
ATP2B4_chr1_203621832_203749081	203653985	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	318	0.0031	17	c.-46 others(38): Show c.-465+26767_-465+26768insATATATATATATATATT	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP2B4_chr1_203621832_203749081	203686685	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00597.hp1 others(11): Show HG00544.hp1 HG00544.hp2 HG00597.hp1 HG01978.hp1 HG02056.hp1 HG02135.hp2 HG02818.hp1 HG03041.hp1 HG03453.hp1 NA18949.hp2 NA18977.hp2 NA18991.hp1 NA18991.hp2 NA19068.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0020 a0001c0001 a0001c0003 a0006c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0024 a0001c0001t0029 a0001c0003t0007 a0001c0003t0009 a0006c0020t0005	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0003g0199 others(11): Show a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0003g0199 a0001c0001t0004g0262 a0001c0001t0005g0059 a0001c0001t0005g0089 a0001c0001t0007g0205 a0001c0001t0009g0056 a0001c0001t0024g0098 a0001c0001t0024g0113 a0001c0001t0029g0009 a0001c0003t0007g0216 a0001c0003t0009g0081 a0006c0020t0005g0099	14	318	0.0440	17	c.193 others(34): Show c.193+3297_193+3313dupTTTTTTTTTTTTTTTTT	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP2C2_chr16_84363538_84469187	84397655	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01167.hp2 HG01168.hp2 others(7): Show HG00140.hp1 HG01167.hp2 HG01168.hp2 HG01255.hp1 HG01255.hp2 HG03041.hp1 HG03491.hp1 HG04115.hp2 NA19083.hp2 NA20752.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0001c0005 a0001c0011 others(4): Show a0001c0003 a0001c0005 a0001c0011 a0001c0022 a0001c0043 a0002c0056 a0005c0017	a0001c0003t0001 a0001c0005t0001 a0001c0011t0001 others(4): Show a0001c0003t0001 a0001c0005t0001 a0001c0011t0001 a0001c0022t0002 a0001c0043t0002 a0002c0056t0001 a0005c0017t0001	a0001c0003t0001g0005 a0001c0003t0001g0031 a0001c0003t0001g0174 others(7): Show a0001c0003t0001g0005 a0001c0003t0001g0031 a0001c0003t0001g0174 a0001c0005t0001g0100 a0001c0011t0001g0396 a0001c0022t0002g0395 a0001c0043t0002g0350 a0002c0056t0001g0017 a0005c0017t0001g0010 a0005c0017t0001g0032	10	432	0.0232	17	c.100 others(32): Show c.100-842_100-826dupAAAAAAAAAAAAAAAAA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84397670	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG03710.hp1 HG01515.hp1 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0006 a0001c0009 a0002c0006	a0001c0009t0001 a0002c0006t0001 a0001c0009t0001 a0002c0006t0001	a0001c0009t0001g0020 a0002c0006t0001g0019 a0001c0009t0001g0020 a0002c0006t0001g0019	2	432	0.0046	17	c.100 others(32): Show c.100-826_100-825insAAAAAAAAAAAAACAAA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84424576	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02630.hp1 others(2): Show HG02109.hp1 HG02258.hp2 HG02630.hp1 HG02723.hp2 HG02818.hp1	a0001 a0004 a0001 a0004	a0001c0018 a0001c0029 a0004c0013 others(1): Show a0001c0018 a0001c0029 a0004c0013 a0004c0027	a0001c0018t0002 a0001c0029t0002 a0004c0013t0001 others(1): Show a0001c0018t0002 a0001c0029t0002 a0004c0013t0001 a0004c0027t0001	a0001c0018t0002g0006 a0001c0029t0002g0388 a0001c0029t0002g0389 others(2): Show a0001c0018t0002g0006 a0001c0029t0002g0388 a0001c0029t0002g0389 a0004c0013t0001g0077 a0004c0027t0001g0245	5	432	0.0116	17	c.920 others(34): Show c.920-1152_920-1136dupTTTTTTTTTTTTTTTTT	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	10/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84424599	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18975.hp2 NA18977.hp1 others(2): Show HG02809.hp2 NA18975.hp2 NA18977.hp1 NA19065.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0005t0001	a0001c0001t0002g0362 a0001c0001t0003g0202 a0001c0001t0003g0351 others(2): Show a0001c0001t0002g0362 a0001c0001t0003g0202 a0001c0001t0003g0351 a0001c0002t0003g0258 a0001c0005t0001g0081	5	432	0.0116	17	c.920 others(34): Show c.920-1136_920-1135insTTTTTTTTTTTTTTTTA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	10/26			chr16	TogoVar
ATP5F1C_chr10_7783177_7812801	7796685	C C	CGCCGTTC others(10): Show CGCCGTTCTCCTGCCTCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00642.hp1 others(70): Show HG00099.hp2 HG00323.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01358.hp1 HG01884.hp1 HG01891.hp1 HG01943.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02056.hp2 HG02145.hp1 HG02273.hp2 HG02523.hp1 HG02523.hp2 HG02698.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG03927.hp2 HG04184.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18950.hp2 NA18951.hp2 NA18961.hp1 NA18964.hp1 NA18969.hp2 NA18971.hp1 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18987.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA19000.hp1 NA19004.hp1 NA19012.hp2 NA19030.hp2 NA19055.hp1 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19075.hp2 NA19076.hp2 NA19082.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0033 others(23): Show a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0055 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0003g0039 a0001c0001t0003g0133	73	420	0.1738	17	c.92- others(30): Show c.92-358_92-342dupGTTCTCCTGCCTCAGCC	ATP5F1C	ENSG00000165629.20	transcript	ENST00000356708.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATP5MC1_chr17_48887787_48900871	48899067	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01168.hp1 HG02080.hp2 others(11): Show HG01074.hp1 HG01168.hp1 HG02080.hp2 HG02148.hp1 HG02257.hp1 HG03195.hp2 HG03239.hp2 HG03834.hp1 HG04115.hp1 NA18941.hp2 NA18971.hp1 NA18975.hp2 NA18989.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0002 a0001c0001t0002g0004	14	334	0.0419	17	c.32 others(28): Show c.3298_*3299insAAAAAAAAAAAAAAAAA	ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding		3197		chr17	TogoVar
ATP5MC2_chr12_53660170_53681083	53671233	C C	CAGTGTAT others(10): Show CAGTGTATTCTCAGGATA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	418	0.0024	17	c.40- others(32): Show c.40-1302_40-1286dupTATCCTGAGAATACACT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	2/4			chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53672083	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00673.hp2 others(16): Show HG00597.hp2 HG00621.hp1 HG00673.hp2 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01257.hp2 HG01952.hp2 HG03492.hp1 NA18965.hp2 NA18968.hp1 NA18986.hp1 NA18995.hp1 NA18995.hp2 NA19065.hp2 NA19072.hp2 NA19084.hp1 NA19086.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0088 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0115	19	418	0.0455	17	c.39+ others(30): Show c.39+476_39+492dupTTTTTTTTTTTTTTTTT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	2/4			chr12	TogoVar
ATP5ME_chr4_667436_679276	669467	T T	TTCCCCTA others(10): Show TTCCCCTACCCCATGCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	17	c.30 others(28): Show c.3032_*3033insTAGCATGGGGTAGGGGA	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		2968		chr4	TogoVar
ATP5MGL_chr22_42634803_42645601	42638728	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG03041.hp1 HG03225.hp2 others(3): Show HG02922.hp2 HG03041.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0022 a0001c0001t0004 a0001c0001t0007 a0001c0001t0022	a0001c0001t0004g0000 a0001c0001t0007g0000 a0001c0001t0022g0000 a0001c0001t0004g0000 a0001c0001t0007g0000 a0001c0001t0022g0000	6	374	0.0160	17	c.12 others(28): Show c.1227_*1243dupTTTTTTTTTTTTTTTTT	ATP5MGL	ENSG00000249222.1	transcript	ENST00000505920.1	protein_coding		1074		chr22	TogoVar
ATP5MJ_chr14_103907288_103926529	103908188	A A	AAAGAAAA others(10): Show AAAGAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	440	0.0023	17	c.44 others(28): Show c.4477_*4478insCTTTTTTTTTTTTTCTT	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding		4099		chr14	TogoVar
ATP5MJ_chr14_103907288_103926529	103914837	C C	CAAAAAGG others(10): Show CAAAAAGGAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01256.hp2 HG01261.hp2 others(7): Show HG01192.hp2 HG01256.hp2 HG01261.hp2 HG01993.hp2 NA18942.hp2 NA18956.hp2 NA18962.hp1 NA18972.hp2 NA18989.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0053 a0001c0001t0002g0054 others(3): Show a0001c0001t0002g0012 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0069	10	440	0.0227	17	c.124 others(32): Show c.124+228_124+229insTTTTTTTTTTCCTTTTT	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding	2/3			chr14	TogoVar
ATP5MJ_chr14_103907288_103926529	103914849	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00673.hp2 HG01123.hp2 others(24): Show HG00280.hp2 HG00673.hp2 HG01123.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG02004.hp1 HG02071.hp1 HG02300.hp2 HG02572.hp1 HG02630.hp1 HG02723.hp1 HG03688.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp2 NA18940.hp2 NA18947.hp1 NA18947.hp2 NA18955.hp1 NA18964.hp1 NA18974.hp2 NA18995.hp1 NA19005.hp2 NA19079.hp1 NA20300.hp1 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0007 a0004c0004t0001 a0001c0001t0001 a0001c0001t0007 a0004c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0118 others(13): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0007g0187 a0004c0004t0001g0183	27	440	0.0614	17	c.124 others(32): Show c.124+216_124+217insCTTTTTTTTTTTTTTTT	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding	2/3			chr14	TogoVar
ATP5MJ_chr14_103907288_103926529	103925043	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0183 a0004c0004t0001g0183	1	440	0.0023	17	c.-35 others(28): Show c.-3591_-3575dupAAAAAAAAAAAAAAAAA	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding		3515		chr14	TogoVar
ATP6V0A2_chr12_123707353_123766755	123708325	T T	TTCAGTGA others(10): Show TTCAGTGATTTGTTGTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0066 a0001c0001t0016g0066	1	222	0.0045	17	c.-42 others(28): Show c.-4241_-4240insTCAGTGATTTGTTGTAG	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		4027		chr12	TogoVar
ATP6V0A2_chr12_123707353_123766755	123729322	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02895.hp1 others(3): Show HG02257.hp2 HG02258.hp1 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0029 a0001c0001t0005 a0001c0001t0029	a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0005g0041 others(3): Show a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0045 a0001c0001t0029g0040	6	222	0.0270	17	c.648 others(34): Show c.648+1424_648+1425insTTTTTTTTTTTTTTTTT	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP6V0A2_chr12_123707353_123766755	123765585	T T	TATCTATC others(10): Show TATCTATCTATCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 NA18906.hp1 NA19240.hp2 HG01099.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0118 a0001c0005t0012g0119 a0001c0005t0012g0120 a0001c0005t0012g0118 a0001c0005t0012g0119 a0001c0005t0012g0120	3	222	0.0135	17	c.75 others(28): Show c.7553_*7554insATCTATCTATCTATCTA	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		3831		chr12	TogoVar
ATP6V0A4_chr7_138701294_138803196	138745658	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02027.hp1 HG02080.hp2 others(11): Show HG01167.hp2 HG02027.hp1 HG02080.hp2 HG02630.hp1 HG02886.hp1 HG02896.hp1 HG03130.hp2 NA18966.hp1 NA18970.hp2 NA19002.hp1 NA19009.hp2 NA19058.hp1 NA19082.hp1 NA19082.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008	a0001c0005 a0001c0008 a0002c0002 others(7): Show a0001c0005 a0001c0008 a0002c0002 a0002c0003 a0002c0027 a0003c0004 a0004c0011 a0005c0006 a0007c0026 a0008c0024	a0001c0005t0005 a0001c0008t0002 a0002c0002t0001 others(7): Show a0001c0005t0005 a0001c0008t0002 a0002c0002t0001 a0002c0003t0001 a0002c0027t0001 a0003c0004t0002 a0004c0011t0001 a0005c0006t0001 a0007c0026t0001 a0008c0024t0002	a0001c0005t0005g0067 a0001c0008t0002g0100 a0002c0002t0001g0262 others(11): Show a0001c0005t0005g0067 a0001c0008t0002g0100 a0002c0002t0001g0262 a0002c0003t0001g0316 a0002c0027t0001g0005 a0002c0027t0001g0049 a0003c0004t0002g0354 a0004c0011t0001g0266 a0004c0011t0001g0273 a0005c0006t0001g0031 a0005c0006t0001g0053 a0005c0006t0001g0332 a0007c0026t0001g0003 a0008c0024t0002g0324	14	376	0.0372	17	c.132 others(34): Show c.1321-379_1321-378insTTTTTTTTTTTTTTTTT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	13/21			chr7	TogoVar
ATP6V0E1_chr5_172978771_173040445	173015801	A A	ACTGCAAC others(10): Show ACTGCAACCTCTGCCTCC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	292	0.0034	17	c.153 others(34): Show c.153-4435_153-4419dupTGCAACCTCTGCCTCCC	ATP6V0E1	ENSG00000113732.9	transcript	ENST00000519374.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATP6V1A_chr3_113742035_113817056	113772933	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0283 a0001c0001t0019g0283	1	312	0.0032	17	c.-13 others(34): Show c.-13-5802_-13-5786dupTTTTTTTTTTTTTTTTT	ATP6V1A	ENSG00000114573.12	transcript	ENST00000273398.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)