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
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGG others(31): Show AAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0237 a0001c0002t0003g0237	1	246	0.0041	38	c.66 others(49): Show c.6623_*6624insCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTTCCT TCCT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3241		chr2	TogoVar
ATAD3A_chr1_1507162_1539685	1535041	A A	ACCTGCCC others(31): Show ACCTGCCCCCCAGGACCCTCCCTGCCCCCCAGGACCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	420	0.0024	38	c.96 others(47): Show c.969_*970insCCTGCCCCCCAGGACCCTCCCTGCCCCCCAGGACCC TC	ATAD3A	ENSG00000197785.14	transcript	ENST00000378756.8	protein_coding		357		chr1	TogoVar
ATL1_chr14_50555145_50638045	50590321	C C	CCTGCAGG others(31): Show CCTGCAGGATAAAATCTGACTCCCTTAAGGACCTTACAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	320	0.0031	38	c.283 others(53): Show c.283-619_283-582dupCTGCAGGATAAAATCTGACTCCCTTAAGGA CCTTACAA	ATL1	ENSG00000198513.14	transcript	ENST00000358385.12	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
ATOH8_chr2_85748991_85796383	85795290	A A	AATAAATG others(31): Show AATAAATGGGGATTCACCCTTCAAATCTGGATAAAGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0278 a0002c0002t0010g0278	1	378	0.0027	38	c.84 others(49): Show c.8400_*8401insATAAATGGGGATTCACCCTTCAAATCTGGATAAA GCTC	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding		3908		chr2	TogoVar
ATP10B_chr5_160558120_160857211	160653483	A A	ACATATAT others(31): Show ACATATATATTACATATACATATATACATATACATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0227 a0001c0001t0051g0227	1	236	0.0042	38	c.676 others(55): Show c.676-4228_676-4227insATATATGTATATGTATATATGTATATGT AATATATATG	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112766986	G G	GATGTGGG others(31): Show GATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0041 a0001c0002t0004g0041	1	254	0.0039	38	c.40- others(55): Show c.40-18149_40-18148insATGTGGGGGTGTTGGGGGCCCCTGTGGG AAGGTGGGGA	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29			chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767303	G G	GATGTGGG others(31): Show GATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01934.hp1 HG01106.hp2 HG01934.hp1	a0001 a0001	a0001c0004 a0001c0030 a0001c0004 a0001c0030	a0001c0004t0001 a0001c0030t0001 a0001c0004t0001 a0001c0030t0001	a0001c0004t0001g0106 a0001c0030t0001g0103 a0001c0004t0001g0106 a0001c0030t0001g0103	2	254	0.0079	38	c.40- others(55): Show c.40-17832_40-17831insATGTGGGGGTGTTGGGGGCCCCTGTGGG AAGGTGGGGA	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29			chr13	TogoVar
ATP11A_chr13_112685038_112892168	112779348	T T	TGAGGAGT others(31): Show TGAGGAGTAGCCGCTGGAGTGAGTAGCCGCTGGAGTGAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG02809.hp1 others(3): Show HG02451.hp2 HG02647.hp2 HG02809.hp1 HG02895.hp2 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0001c0029	a0001c0001t0002 a0001c0001t0021 a0001c0004t0042 others(2): Show a0001c0001t0002 a0001c0001t0021 a0001c0004t0042 a0001c0006t0004 a0001c0029t0051	a0001c0001t0002g0050 a0001c0001t0021g0240 a0001c0004t0042g0057 others(3): Show a0001c0001t0002g0050 a0001c0001t0021g0240 a0001c0004t0042g0057 a0001c0006t0004g0036 a0001c0006t0004g0114 a0001c0029t0051g0046	6	254	0.0236	38	c.40- others(53): Show c.40-5784_40-5783insGAGTAGCCGCTGGAGTGAGTAGCCGCTGGA GTGAGGAG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804113	T T	TCCTCCTT others(31): Show TCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCCTTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA20300.hp1 HG02559.hp2 NA20300.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0038 a0001c0001 a0009c0038	a0001c0001t0001 a0009c0038t0069 a0001c0001t0001 a0009c0038t0069	a0001c0001t0001g0146 a0009c0038t0069g0044 a0001c0001t0001g0146 a0009c0038t0069g0044	2	254	0.0079	38	c.163 others(53): Show c.163-837_163-836insTCTTCCCTTCCTTCCCTCATTCCCCTCCTT CCCTCCTT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804113	T T	TCCTCCTT others(31): Show TCCTCCTTTCTTCCCTTCCTTCCCTCATTCTCCTCCTTC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0067 a0001c0026t0001g0067	1	254	0.0039	38	c.163 others(53): Show c.163-837_163-836insTCTTCCCTTCCTTCCCTCATTCTCCTCCTT CCCTCCTT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A3_chr3_194397677_194492002	194415661	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	304	0.0033	38	c.340 others(57): Show c.3403-1823_3403-1822insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	31/33			chr3	TogoVar
ATP5MC2_chr12_53660170_53681083	53671379	G G	GGTAAATG others(31): Show GGTAAATGCTCAATAAATGGTACTCCTTTTTATTTGTGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	418	0.0024	38	c.39+ others(53): Show c.39+1159_39+1196dupTCACAAATAAAAAGGAGTACCATTTATTGA GCATTTAC	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	2/4			chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53672083	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	418	0.0024	38	c.39+ others(51): Show c.39+492_39+493insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	2/4			chr12	TogoVar
ATP5ME_chr4_667436_679276	669486	T T	TTCCCACT others(31): Show TTCCCACTACTCCATGCTGCTGCCACTACCCCATGCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	394	0.0025	38	c.30 others(49): Show c.3013_*3014insCTAGCATGGGGTAGTGGCAGCAGCATGGAGTAGT GGGA	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		2949		chr4	TogoVar
ATP6V0A4_chr7_138701294_138803196	138707170	A A	ATATATTA others(31): Show ATATATTATATAATATATTATATATATTATATAATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02273.hp1 NA18612.hp1 others(5): Show HG00544.hp2 HG02273.hp1 NA18612.hp1 NA18747.hp1 NA18980.hp2 NA19009.hp2 NA19054.hp2 NA19090.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0027 a0006c0009 a0001c0001 a0002c0027 a0006c0009	a0001c0001t0001 a0002c0027t0001 a0006c0009t0001 a0001c0001t0001 a0002c0027t0001 a0006c0009t0001	a0001c0001t0001g0020 a0001c0001t0001g0075 a0001c0001t0001g0106 others(5): Show a0001c0001t0001g0020 a0001c0001t0001g0075 a0001c0001t0001g0106 a0001c0001t0001g0156 a0001c0001t0001g0243 a0001c0001t0001g0304 a0002c0027t0001g0049 a0006c0009t0001g0224	8	376	0.0213	38	c.243 others(55): Show c.2430-491_2430-454dupATATATTATATAATATATATAATATATT ATATAATATA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737115	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18944.hp1 NA18966.hp1 others(5): Show HG03130.hp2 NA18944.hp1 NA18966.hp1 NA18982.hp2 NA18991.hp1 NA19000.hp2 NA19009.hp2 NA19085.hp2	a0002 a0005 a0002 a0005	a0002c0027 a0005c0006 a0002c0027 a0005c0006	a0002c0027t0001 a0005c0006t0001 a0002c0027t0001 a0005c0006t0001	a0002c0027t0001g0005 a0002c0027t0001g0049 a0005c0006t0001g0031 others(5): Show a0002c0027t0001g0005 a0002c0027t0001g0049 a0005c0006t0001g0031 a0005c0006t0001g0054 a0005c0006t0001g0268 a0005c0006t0001g0269 a0005c0006t0001g0301 a0005c0006t0001g0303	8	376	0.0213	38	c.157 others(57): Show c.1572+2424_1572+2425insATATATATATATATATATATATATAT ATATATATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21			chr7	TogoVar
ATP8A2_chr13_25366974_26030851	25465748	C C	CCTCCCTC others(31): Show CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCCCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	122	0.0082	38	c.77- others(53): Show c.77-3226_77-3225insCCTCCCTCCCTCCCTCCCTCCCTCCCCCTC TCTCTCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25465748	C C	CCTCCCTC others(31): Show CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0094 a0001c0007t0007g0094	1	122	0.0082	38	c.77- others(53): Show c.77-3226_77-3225insCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCTCTCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25465748	C C	CCTCCCTC others(31): Show CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0114 a0001c0001t0053g0114	1	122	0.0082	38	c.77- others(53): Show c.77-3226_77-3225insCCTCCCTCCCTCCCTCCCTCCCTCCCTCTC TCTCTCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57680277	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0161 a0001c0001t0011g0161	1	314	0.0032	38	c.163 others(57): Show c.1630+3758_1630+3759insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57712048	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0035 a0001c0012t0035	a0001c0012t0035g0008 a0001c0012t0035g0008	1	314	0.0032	38	c.182 others(55): Show c.182-5462_182-5461insATATATATATATATATATATATATATAT ATATATATAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP9A_chr20_51591514_51773390	51718814	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0001 a0001c0001t0013g0001	1	312	0.0032	38	c.328 others(55): Show c.328-5741_328-5740insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	3/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79327523	G G	GTTCTCCG others(31): Show GTTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	298	0.0034	38	c.177 others(57): Show c.1774-1618_1774-1617insTTCTCCGTGGTTAGCGTGCTCTCCGT GGTTAGTGTGCT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79327671	T T	TCCGTGGT others(31): Show TCCGTGGTTAGCGTGCTCTCTCCATGGTTAGCGTGCTCG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0296 a0001c0010t0001g0296	1	298	0.0034	38	c.177 others(57): Show c.1774-1451_1774-1450insTCCATGGTTAGCGTGCTCGCCGTGGT TAGCGTGCTCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18995.hp1 HG03471.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0026 a0001c0002t0004 a0001c0001t0026 a0001c0002t0004	a0001c0001t0026g0010 a0001c0002t0004g0056 a0001c0001t0026g0010 a0001c0002t0004g0056	2	128	0.0156	38	c.317 others(59): Show c.3176-13210_3176-13209insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115503583	T T	TAACCAAT others(31): Show TAACCAATTATGTAGTGTATGAGTGTTTTTGTATATATC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp2 HG02630.hp1 others(9): Show HG02280.hp1 HG02615.hp2 HG02630.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG03041.hp2 HG03453.hp2 HG03486.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0002c0004	a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 others(7): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0006t0013 a0001c0007t0030 a0002c0004t0002 a0002c0004t0006 a0002c0004t0007 a0002c0004t0012	a0001c0001t0007g0027 a0001c0001t0008g0030 a0001c0001t0016g0031 others(9): Show a0001c0001t0007g0027 a0001c0001t0008g0030 a0001c0001t0016g0031 a0001c0001t0017g0028 a0001c0006t0013g0029 a0001c0007t0030g0008 a0002c0004t0002g0012 a0002c0004t0002g0013 a0002c0004t0006g0084 a0002c0004t0007g0011 a0002c0004t0012g0025 a0002c0004t0012g0026	12	128	0.0938	38	c.365 others(59): Show c.3655-15677_3655-15640dupCCAATTATGTAGTGTATGAGTGTT TTTGTATATATCAA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	24/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3597071	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03139.hp2 HG03540.hp2 HG02055.hp2 HG03139.hp2 HG03540.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0014 a0004c0011 a0001c0002 a0001c0014 a0004c0011	a0001c0002t0008 a0001c0014t0002 a0004c0011t0008 a0001c0002t0008 a0001c0014t0002 a0004c0011t0008	a0001c0002t0008g0130 a0001c0014t0002g0170 a0004c0011t0008g0173 a0001c0002t0008g0130 a0001c0014t0002g0170 a0004c0011t0008g0173	3	220	0.0136	38	c.346 others(55): Show c.3469+645_3469+646insTATATATATATATATATATATATATATA TATATAAATA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77790990	C C	CTATAAAT others(31): Show CTATAAATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0203 a0006c0008t0003g0203	1	218	0.0046	38	c.-49 others(49): Show c.-4990_-4989insTATATATATATATATATATATATATATATATATT TATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding		4775		chrX	TogoVar
ATXN7L1_chr7_105599772_105881599	105664575	G G	GTGTATGT others(31): Show GTGTATGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	252	0.0040	38	c.578 others(53): Show c.578+490_578+491insTATATATATATATATATATATATATATACA CACATACA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11			chr7	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(31): Show TATATATATATATATATATATATATATACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01891.hp2 HG00621.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0082 a0001c0001t0001g0012 a0001c0001t0001g0082	2	428	0.0047	38	c.-41 others(49): Show c.-4104_-4103insGTGTGTGTGTGTATATATATATATATATATATAT ATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01943.hp1 HG04115.hp1 others(3): Show HG01071.hp2 HG01943.hp1 HG04115.hp1 HG04199.hp2 NA19043.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0027 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0081	6	428	0.0140	38	c.-41 others(49): Show c.-4104_-4103insGTGTGTGTGTATATATATATATATATATATATAT ATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 NA19080.hp1 NA20752.hp2 HG00544.hp2 NA19080.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0006 a0002c0002t0001g0009 a0001c0003t0001g0006 a0002c0002t0001g0009	3	428	0.0070	38	c.-41 others(49): Show c.-4104_-4103insGTATATATATATATATATATATATATATATATAT ATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKC_chr19_57226023_57240548	57239587	T T	TAGAGAGA others(31): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	1	410	0.0024	38	c.41 others(49): Show c.4170_*4171insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	AURKC	ENSG00000105146.14	transcript	ENST00000302804.12	protein_coding		4040		chr19	TogoVar
AVEN_chr15_33861227_34044204	33899460	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0192 a0001c0001t0004g0192	1	266	0.0038	38	c.446 others(57): Show c.446-23466_446-23465insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AXDND1_chr1_179360971_179559735	179488634	C C	CTTTTCTT others(31): Show CTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01109.hp1 NA18951.hp1 HG00544.hp2 HG01109.hp1 NA18951.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0211 a0001c0003t0001g0267 a0001c0003t0001g0287 a0001c0003t0001g0211 a0001c0003t0001g0267 a0001c0003t0001g0287	3	356	0.0084	38	c.209 others(57): Show c.2092-2904_2092-2903insTTTTCTTTCTTTCTTTCTTTCTTTTT CTTTCTTTCTTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25			chr1	TogoVar
B3GALT1_chr2_167288001_167879045	167875969	A A	ATATATAT others(31): Show ATATATATATATACACGTATATATATATATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	118	0.0085	38	c.59 others(49): Show c.5949_*5950insTATATATATATACACGTATATATATATATATATA TACG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1925		chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167876019	G G	GTATATAT others(31): Show GTATATATATATATATACGTATATATATATATATACGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG02280.hp2 NA18948.hp2 others(1): Show HG01169.hp2 HG02280.hp2 NA18948.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0033 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0033 a0001c0002t0011	a0001c0001t0001g0023 a0001c0001t0006g0089 a0001c0001t0033g0016 others(1): Show a0001c0001t0001g0023 a0001c0001t0006g0089 a0001c0001t0033g0016 a0001c0002t0011g0090	4	118	0.0339	38	c.59 others(49): Show c.5999_*6000insTATATATATATATATACGTATATATATATATATA CGTA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1975		chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167876050	T T	TATACGTA others(31): Show TATACGTATATATATATATATACGTATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0106 a0001c0001t0006g0106	1	118	0.0085	38	c.60 others(49): Show c.6030_*6031insATACGTATATATATATATATACGTATATATATAT ATAC	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		2006		chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167876065	A A	ATACGTAT others(31): Show ATACGTATATATATATATATACGTATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0096 a0001c0001t0009g0096	1	118	0.0085	38	c.60 others(49): Show c.6045_*6046insTACGTATATATATATATATACGTATATATATATA TATG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		2021		chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167876065	A A	ATATACGT others(31): Show ATATACGTATATATATATATACGTATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0033 a0001c0001t0036g0033	1	118	0.0085	38	c.60 others(49): Show c.6045_*6046insTATACGTATATATATATATACGTATATATATATA TATG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		2021		chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167876065	A A	ATATACGT others(31): Show ATATACGTATATATATATATATACGTATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	118	0.0085	38	c.60 others(49): Show c.6045_*6046insTATACGTATATATATATATATACGTATATATATA TATG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		2021		chr2	TogoVar
B3GALT5_chr21_39607940_39678137	39613124	C C	CGGGTCCT others(31): Show CGGGTCCTGCGGCGCGCGGGGGCGTGGGTGCCGGGCGCA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0299 a0002c0002t0019g0299	1	336	0.0030	38	c.-39 others(53): Show c.-392+61_-392+98dupTCCTGCGGCGCGCGGGGGCGTGGGTGCCGG GCGCAGGG	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639446	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTTTTTCTTTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01517.hp2 HG01175.hp1 HG01517.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0024 a0001c0001t0001 a0002c0002t0024	a0001c0001t0001g0062 a0002c0002t0024g0065 a0001c0001t0001g0062 a0002c0002t0024g0065	2	336	0.0060	38	c.-39 others(57): Show c.-391-6937_-391-6936insCTTTCTTTTTTTCTTTCTCTCTCTCT CTCTCTTTCTTT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GLCT_chr13_31194975_31337276	31196186	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	268	0.0037	38	c.-38 others(49): Show c.-3899_-3898insATATATATATATATATATATATATATATATATAT ATAT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3788		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0025 a0002c0002t0003g0025	1	268	0.0037	38	c.-38 others(49): Show c.-3878_-3877insTATATATATATATATATATATATATATATATATA TATT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02602.hp2 HG02056.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0041 a0001c0001t0006g0035 a0001c0001t0004g0041 a0001c0001t0006g0035	2	268	0.0075	38	c.-38 others(49): Show c.-3878_-3877insTATATATATATATATATATATATATATATATATA TTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0037	1	268	0.0037	38	c.-38 others(49): Show c.-3878_-3877insTATATATATATATATATATATATATATATATTTT TTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0047 a0001c0001t0004g0047	1	268	0.0037	38	c.-38 others(49): Show c.-3878_-3877insTATATATATATATATATATATATATTTTTTTTTT TTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(31): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	268	0.0037	38	c.-38 others(49): Show c.-3878_-3877insTATATATATATATATATATATTTTTTTTTTTTTT TTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18612.hp2 NA19070.hp2 HG02027.hp1 NA18612.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0039 a0001c0001t0005g0099 a0001c0001t0005g0198 a0001c0001t0004g0039 a0001c0001t0005g0099 a0001c0001t0005g0198	3	268	0.0112	38	c.106 others(57): Show c.1065-1135_1065-1134insTATATATATATATATATATATATATA TATATATATATA	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr13	TogoVar

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