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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⚠️ 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
TRPM7_chr15_50552158_50691797	50679538	A A	ATATTATA others(46): Show ATATTATATATATATATATATATATATGTATATATATATTTTTTTTTTTT TTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0015 a0004c0006t0015	a0004c0006t0015g0323 a0004c0006t0015g0323	1	352	0.0028	53	c.3+6 others(66): Show c.3+6992_3+6993insAAAAAAAAAAAAAAAATATATATATACATATA TATATATATATATATATAATA	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	1/38			chr15	TogoVar
TRPS1_chr8_115403496_115673975	115535245	C C	CATATATA others(46): Show CATATATATAGCATATATAGCATATATATAGCATATATATAGCATATATA GCAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0183 a0001c0001t0087g0183	1	192	0.0052	53	c.270 others(74): Show c.2700+51755_2700+51756insATGCTATATATGCTATATATATGC TATATATATGCTATATATGCTATATATAT	TRPS1	ENSG00000104447.13	transcript	ENST00000395715.8	protein_coding	5/6			chr8	TogoVar
TRPS1_chr8_115403496_115673975	115535293	T T	TAGCATAT others(46): Show TAGCATATATATAGCATATATAGCATATATAGAGCATATATATAGCATAT ATAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01361.hp2 NA18984.hp2 others(1): Show HG00438.hp2 HG01361.hp2 NA18984.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0016 a0001c0001t0004 a0001c0001t0010 a0001c0001t0016	a0001c0001t0004g0073 a0001c0001t0004g0101 a0001c0001t0010g0011 others(1): Show a0001c0001t0004g0073 a0001c0001t0004g0101 a0001c0001t0010g0011 a0001c0001t0016g0056	4	192	0.0208	53	c.270 others(74): Show c.2700+51707_2700+51708insCTATATATGCTATATATATGCTCT ATATATGCTATATATGCTATATATATGCT	TRPS1	ENSG00000104447.13	transcript	ENST00000395715.8	protein_coding	5/6			chr8	TogoVar
TRPS1_chr8_115403496_115673975	115535293	T T	TAGCATAT others(46): Show TAGCATATATATAGCATATATAGCATATATATAGCATATATAGAGCATAT ATAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	192	0.0052	53	c.270 others(74): Show c.2700+51707_2700+51708insCTATATATGCTCTATATATGCTAT ATATATGCTATATATGCTATATATATGCT	TRPS1	ENSG00000104447.13	transcript	ENST00000395715.8	protein_coding	5/6			chr8	TogoVar
TRPS1_chr8_115403496_115673975	115535293	T T	TAGCATAT others(46): Show TAGCATATATATAGCATATATAGCATATATATAGCATATATATAGCATAT ATAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00733.hp2 others(33): Show HG00099.hp1 HG00323.hp1 HG00733.hp2 HG00738.hp1 HG01071.hp2 HG01433.hp1 HG01515.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG03491.hp1 HG03516.hp1 HG03669.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18950.hp1 NA18959.hp2 NA18970.hp2 NA18971.hp2 NA18977.hp2 NA18998.hp2 NA19010.hp2 NA19068.hp2 NA19074.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0004c0009	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(23): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0034 a0001c0001t0038 a0001c0001t0039 a0001c0001t0042 a0001c0001t0043 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0058 a0001c0001t0065 a0001c0001t0082 a0001c0001t0083 a0001c0001t0085 a0001c0002t0032 a0001c0002t0091 a0001c0006t0035 a0001c0010t0084 a0004c0009t0009	a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0032 others(33): Show a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0039 a0001c0001t0004g0079 a0001c0001t0008g0004 a0001c0001t0008g0007 a0001c0001t0008g0008 a0001c0001t0008g0043 a0001c0001t0014g0172 a0001c0001t0015g0019 a0001c0001t0019g0036 a0001c0001t0019g0038 a0001c0001t0021g0049 a0001c0001t0021g0051 a0001c0001t0022g0050 a0001c0001t0022g0052 a0001c0001t0034g0031 a0001c0001t0038g0028 a0001c0001t0039g0009 a0001c0001t0042g0037 a0001c0001t0043g0005 a0001c0001t0052g0112 a0001c0001t0054g0075 a0001c0001t0055g0055 a0001c0001t0058g0089 a0001c0001t0065g0082 a0001c0001t0082g0171 a0001c0001t0083g0181 a0001c0001t0085g0180 a0001c0002t0032g0001 a0001c0002t0091g0186 a0001c0006t0035g0030 a0001c0010t0084g0170 a0004c0009t0009g0105	36	192	0.1875	53	c.270 others(74): Show c.2700+51707_2700+51708insCTATATATGCTATATATATGCTAT ATATATGCTATATATGCTATATATATGCT	TRPS1	ENSG00000104447.13	transcript	ENST00000395715.8	protein_coding	5/6			chr8	TogoVar
TRPS1_chr8_115403496_115673975	115535296	C C	CATATATA others(46): Show CATATATATAGCATATATAGCATATATATAGCATATATATAGCATATATA GAGA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	192	0.0052	53	c.270 others(74): Show c.2700+51704_2700+51705insTCTCTATATATGCTATATATATGC TATATATATGCTATATATGCTATATATAT	TRPS1	ENSG00000104447.13	transcript	ENST00000395715.8	protein_coding	5/6			chr8	TogoVar
TSPAN18_chr11_44721962_44937423	44908829	A A	AGGAAGGA others(46): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG AAAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02965.hp1 NA19030.hp1 HG02886.hp2 HG02965.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0098 a0001c0001t0101 a0001c0001t0023 a0001c0001t0098 a0001c0001t0101	a0001c0001t0023g0110 a0001c0001t0098g0151 a0001c0001t0101g0260 a0001c0001t0023g0110 a0001c0001t0098g0151 a0001c0001t0101g0260	3	290	0.0103	53	c.64- others(66): Show c.64-876_64-875insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGAAAG	TSPAN18	ENSG00000157570.12	transcript	ENST00000520358.7	protein_coding	4/9			chr11	TogoVar
TSPAN4_chr11_837852_872111	859299	C C	CGGCTCAC others(46): Show CGGCTCACACGCACCCCCCCCTTTCACACGCACCCCGGGCTCACACGCAC CCCG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	394	0.0025	53	c.64- others(68): Show c.64-3232_64-3231insCTTTCACACGCACCCCGGGCTCACACGCAC CCCGGGCTCACACGCACCCCCCC	TSPAN4	ENSG00000214063.12	transcript	ENST00000397397.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
TSPAN4_chr11_837852_872111	859398	A A	ACCCCGGG others(46): Show ACCCCGGGCTCACACGCACCCCCCCTTTCACACGCACCCCGGGCTCACAC GACC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	394	0.0025	53	c.64- others(68): Show c.64-3146_64-3145insGCTCACACGCACCCCCCCTTTCACACGCAC CCCGGGCTCACACGACCCCCCGG	TSPAN4	ENSG00000214063.12	transcript	ENST00000397397.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
TTC31_chr2_74478081_74499559	74487486	G G	GGGATTAC others(46): Show GGGATTACAGGTGTGAGCCACTGCACCCGGCTTTTTATTTTTTTAAATTT ATTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0002 a0009c0009t0002	a0009c0009t0002g0037 a0009c0009t0002g0037	1	332	0.0030	53	c.130 others(70): Show c.130-2538_130-2486dupGGATTACAGGTGTGAGCCACTGCACCCG GCTTTTTATTTTTTTAAATTTATTT	TTC31	ENSG00000115282.21	transcript	ENST00000233623.11	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC39C_chr18_24009754_24140600	24024016	A A	ATATATAT others(46): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT TTTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0246 a0001c0001t0006g0246	1	328	0.0031	53	c.167 others(70): Show c.167+8979_167+8980insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTTTTTTT	TTC39C	ENSG00000168234.13	transcript	ENST00000317571.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr18	TogoVar
TTC3_chr21_37068254_37208107	37122434	A A	ATTATATA others(46): Show ATTATATATATATAATATATATATATTATATATATATAATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0141 a0001c0004t0010g0141	1	340	0.0029	53	c.106 others(70): Show c.1063+456_1063+457insTATATATATATAATATATATATATTATA TATATATAATATATATATATATATT	TTC3	ENSG00000182670.14	transcript	ENST00000418766.6	protein_coding	12/45		INFO_REALIGN_3_PRIME	chr21	TogoVar
TTC5_chr14_20281227_20310951	20310608	G G	GGTCAGCC others(46): Show GGTCAGCCCCCCCCCCCCCCGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 NA20129.hp2 NA21309.hp2 others(1): Show HG01070.hp1 NA20129.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0006 a0001c0002t0009g0025 a0001c0002t0009g0051 a0001c0002t0009g0006 a0001c0002t0009g0025 a0001c0002t0009g0051	4	416	0.0096	53	c.-46 others(64): Show c.-4672_-4671insTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC GGGGGGGGGGGGGGCTGAC	TTC5	ENSG00000136319.12	transcript	ENST00000258821.8	protein_coding		4658		chr14	TogoVar
TTF1_chr9_132370548_132411840	132378604	G G	GTGCATGT others(46): Show GTGCATGTGGTGTGAGTGCATGTGGTGTGTGTGAGTGCATGTAGTGTGTG TGAA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18966.hp1 NA18992.hp2 NA18950.hp2 NA18966.hp1 NA18992.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0232 a0005c0006t0001g0241 a0005c0006t0001g0242 a0005c0006t0001g0232 a0005c0006t0001g0241 a0005c0006t0001g0242	3	400	0.0075	53	c.246 others(70): Show c.2464+454_2464+455insTTCACACACACTACATGCACTCACACAC ACCACATGCACTCACACCACATGCA	TTF1	ENSG00000125482.13	transcript	ENST00000334270.3	protein_coding	10/10			chr9	TogoVar
TTF1_chr9_132370548_132411840	132378604	G G	GTGCATGT others(46): Show GTGCATGTGGTGTGAGTGCATGTGGTGTGTGTGAGTGCATGTGCTGTGTG TGAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0101 a0004c0004t0002g0101	1	400	0.0025	53	c.246 others(70): Show c.2464+454_2464+455insTTCACACACAGCACATGCACTCACACAC ACCACATGCACTCACACCACATGCA	TTF1	ENSG00000125482.13	transcript	ENST00000334270.3	protein_coding	10/10			chr9	TogoVar
TTF1_chr9_132370548_132411840	132378604	G G	GTGCATGT others(46): Show GTGCATGTGGTGTGAGTGCATGTGGTGTGTGTGAGTGCATGTGGTGTGTG TGAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00544.hp1 others(175): Show HG00280.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18972.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0014	a0001c0001 a0001c0005 a0001c0007 others(11): Show a0001c0001 a0001c0005 a0001c0007 a0001c0018 a0001c0022 a0001c0023 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0005c0011 a0007c0012 a0009c0016 a0014c0024	a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 a0001c0007t0002 a0001c0007t0005 a0001c0007t0006 a0001c0018t0001 a0001c0022t0002 a0001c0023t0002 a0002c0002t0002 a0003c0003t0002 a0004c0004t0002 a0005c0006t0001 a0005c0011t0001 a0007c0012t0002 a0009c0016t0002 a0014c0024t0002	a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0039 others(112): Show a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0001g0178 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0214 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0002g0059 a0001c0005t0002g0012 a0001c0005t0002g0016 a0001c0005t0002g0027 a0001c0005t0002g0028 a0001c0005t0002g0061 a0001c0005t0002g0062 a0001c0005t0002g0064 a0001c0005t0002g0066 a0001c0005t0002g0067 a0001c0005t0002g0070 a0001c0005t0002g0071 a0001c0007t0002g0015 a0001c0007t0002g0135 a0001c0007t0005g0260 a0001c0007t0005g0261 a0001c0007t0006g0169 a0001c0018t0001g0233 a0001c0022t0002g0072 a0001c0023t0002g0073 a0002c0002t0002g0110 a0002c0002t0002g0114 a0003c0003t0002g0002 a0003c0003t0002g0009 a0003c0003t0002g0014 a0003c0003t0002g0017 a0003c0003t0002g0018 a0003c0003t0002g0019 a0003c0003t0002g0030 a0003c0003t0002g0031 a0003c0003t0002g0032 a0003c0003t0002g0055 a0003c0003t0002g0079 a0003c0003t0002g0080 a0003c0003t0002g0081 a0003c0003t0002g0082 a0003c0003t0002g0083 a0003c0003t0002g0084 a0003c0003t0002g0085 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0002g0088 a0003c0003t0002g0089 a0003c0003t0002g0090 a0003c0003t0002g0091 a0003c0003t0002g0092 a0003c0003t0002g0132 a0004c0004t0002g0013 a0004c0004t0002g0020 a0004c0004t0002g0021 a0004c0004t0002g0029 a0004c0004t0002g0033 a0004c0004t0002g0037 a0004c0004t0002g0078 a0004c0004t0002g0095 a0004c0004t0002g0096 a0004c0004t0002g0097 a0004c0004t0002g0098 a0004c0004t0002g0099 a0004c0004t0002g0100 a0004c0004t0002g0102 a0004c0004t0002g0103 a0004c0004t0002g0104 a0004c0004t0002g0105 a0004c0004t0002g0106 a0004c0004t0002g0107 a0004c0004t0002g0108 a0004c0004t0002g0131 a0005c0006t0001g0234 a0005c0006t0001g0238 a0005c0006t0001g0239 a0005c0006t0001g0240 a0005c0011t0001g0050 a0005c0011t0001g0235 a0005c0011t0001g0236 a0007c0012t0002g0136 a0007c0012t0002g0137 a0007c0012t0002g0138 a0009c0016t0002g0075 a0009c0016t0002g0094 a0014c0024t0002g0093	178	400	0.4450	53	c.246 others(70): Show c.2464+454_2464+455insTTCACACACACCACATGCACTCACACAC ACCACATGCACTCACACCACATGCA	TTF1	ENSG00000125482.13	transcript	ENST00000334270.3	protein_coding	10/10			chr9	TogoVar
TTLL5_chr14_75656246_75960079	75914033	A A	AAAAAAAA others(46): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0001 a0009c0014t0001g0001	1	198	0.0051	53	c.382 others(74): Show c.3823+11810_3823+11811insAAAAAAATATATATATATATATAT ATATATATATATATATATATATATATATA	TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL8_chr22_50013575_50063298	50057516	G G	GGGGTCAG others(46): Show GGGGTCAGGTCTGGGTTGGGGGATCAGGTCTGGATTGTGGGTCAGGTCTG GGTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01169.hp1 HG01243.hp1 others(8): Show HG00673.hp2 HG01169.hp1 HG01243.hp1 HG02004.hp1 HG02056.hp2 HG02155.hp1 HG02451.hp2 HG03139.hp1 HG03688.hp1 HG03831.hp2 NA19090.hp1	a0002 a0004 a0005 others(2): Show a0002 a0004 a0005 a0006 a0011	a0002c0002 a0004c0004 a0005c0005 others(2): Show a0002c0002 a0004c0004 a0005c0005 a0006c0006 a0011c0027	a0002c0002t0001 a0002c0002t0002 a0004c0004t0001 others(3): Show a0002c0002t0001 a0002c0002t0002 a0004c0004t0001 a0005c0005t0002 a0006c0006t0002 a0011c0027t0001	a0002c0002t0001g0128 a0002c0002t0001g0131 a0002c0002t0001g0132 others(8): Show a0002c0002t0001g0128 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0002g0127 a0004c0004t0001g0124 a0004c0004t0001g0125 a0004c0004t0001g0129 a0004c0004t0001g0130 a0005c0005t0002g0126 a0006c0006t0002g0123 a0011c0027t0001g0133	11	224	0.0491	53	c.-38 others(68): Show c.-38-544_-38-543insAACCCAGACCTGACCCACAATCCAGACCTG ATCCCCCAACCCAGACCTGACCC	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	1/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238870478	A A	ACACCCCA others(46): Show ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	338	0.0030	53	c.35 others(72): Show c.35+21748_*35+21749insCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52529494	C C	CTATATAT others(46): Show CTATATATTATTATATATAATGCCTATTATATATATTATATATAATGCCT ATTA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02258.hp1 HG03490.hp2 others(3): Show HG01081.hp2 HG02258.hp1 HG03490.hp2 HG03704.hp2 HG03834.hp1 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0037 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0037 a0001c0001t0001g0066 a0001c0001t0001g0190 a0002c0003t0002g0216	6	238	0.0252	53	c.392 others(70): Show c.392+7224_392+7225insTAATAGGCATTATATATAATATATATAA TAGGCATTATATATAATAATATATA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52529498	A A	ATATTATT others(46): Show ATATTATTATATATAATGCCTATTATATATATTATATATAATGCCTATTA TATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03130.hp1 HG03041.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0055 a0001c0001t0001g0056	2	238	0.0084	53	c.392 others(70): Show c.392+7220_392+7221insTATATAATAGGCATTATATATAATATAT ATAATAGGCATTATATATAATAATA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TYMS_chr18_652653_678578	667617	G G	GGAGATGG others(46): Show GGAGATGGTGATGGTGATGGTGATGGTGATGGTGATGGTGATGGTGATGG TGAT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0073 a0001c0001t0004g0073	1	482	0.0021	53	c.455 others(70): Show c.455-1454_455-1453insAGATGGTGATGGTGATGGTGATGGTGAT GGTGATGGTGATGGTGATGGTGATG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
UBAP2_chr9_33916693_34053887	33981123	T T	TATATATT others(46): Show TATATATTCTGGATATATATATATATATTCTGGATATATATATATATATT CTGG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0249 a0002c0001t0002g0249	1	356	0.0028	53	c.520 others(70): Show c.520+5636_520+5637insCCAGAATATATATATATATATCCAGAAT ATATATATATATATCCAGAATATAT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(46): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0245 a0003c0004t0001g0245	1	356	0.0028	53	c.-42 others(72): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATATATATATATTTTTTTTTTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(46): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02015.hp1 HG03130.hp1 others(1): Show HG01981.hp1 HG02015.hp1 HG03130.hp1 NA18979.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0002 a0001c0003 a0003c0004 others(1): Show a0001c0002 a0001c0003 a0003c0004 a0006c0008	a0001c0002t0001 a0001c0003t0002 a0003c0004t0001 others(1): Show a0001c0002t0001 a0001c0003t0002 a0003c0004t0001 a0006c0008t0001	a0001c0002t0001g0200 a0001c0003t0002g0277 a0003c0004t0001g0215 others(1): Show a0001c0002t0001g0200 a0001c0003t0002g0277 a0003c0004t0001g0215 a0006c0008t0001g0299	4	356	0.0112	53	c.-42 others(72): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATATATATATATATATTTTTTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(46): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01981.hp2 NA18944.hp1 others(3): Show HG01261.hp2 HG01981.hp2 NA18944.hp1 NA18951.hp1 NA18980.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0153 a0001c0002t0001g0159 others(3): Show a0001c0002t0001g0148 a0001c0002t0001g0153 a0001c0002t0001g0159 a0001c0002t0001g0187 a0001c0002t0001g0193 a0001c0002t0001g0195	6	356	0.0169	53	c.-42 others(72): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATATATATATATATATATTTTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(46): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0273 a0001c0003t0001g0273	1	356	0.0028	53	c.-42 others(72): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATATATATATATATATATATTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBE2E3_chr2_180975605_181068425	181017198	G G	GGGAGTAT others(46): Show GGGAGTATGGAAGAATCACAGGGGCTGGAAGTTTACATTAAAGTGGGATA CAGT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	338	0.0030	53	c.245 others(72): Show c.245+33108_245+33160dupAGTATGGAAGAATCACAGGGGCTGGA AGTTTACATTAAAGTGGGATACAGTGG	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE2U_chr1_64198623_64272368	64239138	G G	GAAGAGGA others(46): Show GAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGA AGAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01928.hp1 HG02132.hp2 others(6): Show HG01258.hp2 HG01928.hp1 HG02132.hp2 HG02293.hp1 NA18954.hp2 NA18964.hp1 NA18979.hp1 NA19057.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0011t0001 a0001c0001t0001 a0001c0001t0002 a0001c0011t0001	a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0118 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0118 a0001c0001t0002g0202 a0001c0001t0002g0248 a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0011t0001g0060	9	330	0.0273	53	c.596 others(70): Show c.596-2510_596-2509insGGAAGAGGAAGAGGAAGAGGAAGAGGAA GAAGAAGAAGAAGAAGAAGAAAAGA	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE2U_chr1_64198623_64272368	64239141	G G	GAAGAGGA others(46): Show GAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGA AGAA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	330	0.0030	53	c.596 others(70): Show c.596-2507_596-2506insGGAAGAGGAAGAGGAAGAGGAAGAGGAA GAAGAAGAAGAAGAAGAAGAAAAGA	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE2U_chr1_64198623_64272368	64239157	A A	AAGAAGAA others(46): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAG	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	330	0.0030	53	c.596 others(70): Show c.596-2494_596-2493insGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGA	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBL5_chr19_9822918_9835115	9834475	C C	CAGACTCT others(46): Show CAGACTCTATTTTAAGTTGGCTAAAACTGAGCCCATCTCCTCCCACCTGC ACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	53	c.44 others(64): Show c.4467_*4468insAGACTCTATTTTAAGTTGGCTAAAACTGAGCCCA TCTCCTCCCACCTGCACCT	UBL5	ENSG00000198258.11	transcript	ENST00000586895.6	protein_coding		4361		chr19	TogoVar
UBR4_chr1_19069510_19215266	19072402	G G	GCTGGAGC others(46): Show GCTGGAGCCCAGACCAGCCTCCACTCCTGCTGGAGCCCAGACCAGCCTCC ACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0151 a0002c0007t0001g0151	1	326	0.0031	53	c.24 others(64): Show c.2429_*2430insGAGTGGAGGCTGGTCTGGGCTCCAGCAGGAGTGG AGGCTGGTCTGGGCTCCAG	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding		2107		chr1	TogoVar
UBR4_chr1_19069510_19215266	19072427	C C	CCTGCTGG others(46): Show CCTGCTGGAGCCCAGACCAGCCTCCACTCCTGGAGCCCAGACCAGCCTCC ACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02486.hp1 others(5): Show HG02055.hp2 HG02257.hp1 HG02486.hp1 HG02630.hp1 HG02723.hp1 HG02965.hp2 HG03516.hp1 NA18906.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0146 a0002c0007t0001g0147 a0002c0007t0001g0148 others(5): Show a0002c0007t0001g0146 a0002c0007t0001g0147 a0002c0007t0001g0148 a0002c0007t0001g0149 a0002c0007t0001g0150 a0002c0007t0001g0152 a0002c0007t0001g0153 a0002c0007t0001g0154	8	326	0.0245	53	c.24 others(64): Show c.2404_*2405insGAGTGGAGGCTGGTCTGGGCTCCAGGAGTGGAGG CTGGTCTGGGCTCCAGCAG	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding		2082		chr1	TogoVar
UCN3_chr10_5359966_5379692	5370750	G G	GTGTGTGT others(46): Show GTGTGTGTATGCGTGTGTATATGCGTGTGTGTATGCGTGTGTATGTGTGT GTGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0174 a0002c0001t0001g0174	1	468	0.0021	53	c.-6- others(68): Show c.-6-2965_-6-2964insTGTGTGTATGCGTGTGTATATGCGTGTGTG TATGCGTGTGTATGTGTGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
UGT1A3_chr2_233724042_233778300	233724152	G G	GGCAGGGG others(46): Show GGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0209 a0002c0002t0001g0209	1	350	0.0029	53	c.-49 others(64): Show c.-4975_-4974insGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGT	UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding		4889		chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233724152	G G	GGCAGGGG others(46): Show GGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	332	0.0030	53	c.861 others(72): Show c.861+30287_861+30288insGCAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGT	UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4			chr2	TogoVar
ULK1_chr12_131889622_131928150	131917075	G G	GTGGGGCT others(46): Show GTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGT GGGA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04184.hp1 HG02735.hp2 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0004 a0001c0006 a0002c0004	a0001c0006t0004 a0002c0004t0004 a0001c0006t0004 a0002c0004t0004	a0001c0006t0004g0277 a0002c0004t0004g0156 a0001c0006t0004g0277 a0002c0004t0004g0156	2	344	0.0058	53	c.218 others(68): Show c.2182+34_2182+35insCGGGGGTCGGGGGGAGCTCGGAGGCTGTGG GATGGGGCTCGGAGGCTGTGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917081	C C	CTCGGAGG others(46): Show CTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGATG GGGG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0185 a0002c0004t0004g0185	1	344	0.0029	53	c.218 others(68): Show c.2182+34_2182+35insCGGGGGTCGGGGGGAGCTCGGAGGCTGTGG GATGGGGGTCGGAGGCTGTGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGAGGCTG others(46): Show CGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGG CTCG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0027 a0002c0008t0027	a0002c0008t0027g0188 a0002c0008t0027g0188	1	344	0.0029	53	c.218 others(70): Show c.2182+122_2182+123insCTCGGAGGCTGTGGGACGGGGGTCGGGT GGGGCTCGGAGGCTGTGGGATGGGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGAGGCTG others(46): Show CGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGG CTTG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	344	0.0029	53	c.218 others(70): Show c.2182+169_2182+170insTGGGGCTCGGAGGCTGTGGGACGGGGGT CGGGTTCGGCTTGGAGGCTGTGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
URB1_chr21_32306018_32398012	32332522	C C	CAAAAAAA others(46): Show CAAAAAAAAAAAAAAAAAAAAATCCCCAAACTCAAGTTAAAAAAACAAGA CAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp2 HG03225.hp2 HG02615.hp1 HG02647.hp2 HG03225.hp2	a0001 a0010 a0001 a0010	a0001c0002 a0010c0024 a0001c0002 a0010c0024	a0001c0002t0023 a0010c0024t0025 a0001c0002t0023 a0010c0024t0025	a0001c0002t0023g0223 a0010c0024t0025g0059 a0010c0024t0025g0060 a0001c0002t0023g0223 a0010c0024t0025g0059 a0010c0024t0025g0060	3	338	0.0089	53	c.496 others(70): Show c.4960+794_4960+795insTTTGTCTTGTTTTTTTAACTTGAGTTTG GGGATTTTTTTTTTTTTTTTTTTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	30/38			chr21	TogoVar
URB1_chr21_32306018_32398012	32332569	C C	CAAAAAAA others(46): Show CAAAAAAAAAAAAAAAAAAATCCCCAAACTCAAGTTAAAAAAACAAAAGA CAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0027 a0001c0043t0027	a0001c0043t0027g0074 a0001c0043t0027g0074	1	338	0.0030	53	c.496 others(70): Show c.4960+747_4960+748insTTTGTCTTTTGTTTTTTTAACTTGAGTT TGGGGATTTTTTTTTTTTTTTTTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	30/38			chr21	TogoVar
USP48_chr1_21673298_21788149	21694601	A A	AAAAAAAA others(46): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC AAAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0125	1	364	0.0028	53	c.288 others(70): Show c.2883+464_2883+465insGTTTGTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTT	USP48	ENSG00000090686.16	transcript	ENST00000308271.14	protein_coding	23/26			chr1	TogoVar
VCX3B_chrX_8459830_8471510	8467146	T T	TGGTGTGG others(46): Show TGGTGTGGGGAGGAGGAGGAAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA TAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	271	0.0037	53	c.76 others(62): Show c.763_*764insGGTGTGGGGAGGAGGAGGAAAGAGGTGGTGTGTGGG GAGGGAGGGAGGATAGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		637		chrX	TogoVar
VEGFB_chr11_64229584_64244264	64237126	G G	GAGAGAGA others(46): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAGACA GACA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	328	0.0031	53	c.375 others(66): Show c.375-61_375-60insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAC AGAGACAGACAGAGACAGACA	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
VPS11_chr11_119062818_119086972	119082503	C C	CAGCCTCA others(46): Show CAGCCTCACCTAATTTCATCTTCTACGTTGTTTAATTGGAGGACGTAAGT TTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0149 a0001c0025t0001g0149	1	356	0.0028	53	c.88 others(62): Show c.880_*881insAGCCTCACCTAATTTCATCTTCTACGTTGTTTAATT GGAGGACGTAAGTTTGA	VPS11	ENSG00000160695.16	transcript	ENST00000621676.5	protein_coding		532		chr11	TogoVar
VSIG4_chrX_66016738_66045080	66037335	T T	TATAATAT others(46): Show TATAATATATAATATATATTATATAATAATATAATATATAATATATATTA TATA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02273.hp1 HG01952.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0152 a0001c0001t0001g0153	2	218	0.0092	53	c.55+ others(68): Show c.55+2608_55+2609insTATATAATATATATTATATATTATATTATT ATATAATATATATTATATATTAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
VSTM2B_chr19_29520994_29569551	29566287	T T	TACAGGGG others(46): Show TACAGGGGAGGGGCAGGTTTGATAGGCACAGTGGAGGGGGCAAGTGTGAT GGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02723.hp1 HG02630.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0257 a0001c0001t0001g0258	2	406	0.0049	53	c.23 others(64): Show c.2353_*2354insACAGGGGAGGGGCAGGTTTGATAGGCACAGTGGA GGGGGCAAGTGTGATGGGC	VSTM2B	ENSG00000187135.8	transcript	ENST00000335523.8	protein_coding		1737		chr19	TogoVar
VTI1A_chr10_112442215_112823744	112455324	C C	ATTCCCTC others(46): Show ATTCCCTCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCTTCCCTTCTTCC CTCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02257.hp2 HG03453.hp2 others(3): Show HG00597.hp1 HG02257.hp2 HG03453.hp2 NA18747.hp1 NA18998.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0061 a0001c0001t0001g0108 a0001c0001t0002g0067 others(3): Show a0001c0001t0001g0061 a0001c0001t0001g0108 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0121 a0001c0001t0004g0109	6	168	0.0357	53	c.95- others(68): Show c.95-5201_95-5200insATTCCCTCCTTCCCCCCTTCCCCCTTCCCC CTTCCCCCTTCCCTTCTTCCCTC	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	1/7			chr10	TogoVar

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