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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TRPC4AP_chr20_34997404_35097807	35097546	T T	TATATATA others(101): Show TATATATACATATAAACACACGTGTGTATATATACATATATACACACGTG TGTATATATACATATATACACACGTGTGTATATATATATACACATGTGTG TATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	334	0.0030	108	c.-47 others(119): Show c.-4766_-4765insGTATATATACACACATGTGTATATATATATACAC ACGTGTGTATATATGTATATATACACACGTGTGTATATATGTATATATAC ACACGTGTGTTTATATGTATATAT		TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding					4740		chr20	TogoVar
TRPM2_chr21_44348621_44447644	44371320	G G	GTCTGCCT others(101): Show GTCTGCCTCCGTGTCCCGTGGCCGCCTCCCTCCAGTCTCTGCCTCCGTGT CCCGTGGCCGCCTCCCTCCAGTCTCTGCCTCCGTGTCCCGTGGCCGCCTC CCTCCAGTC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02273.hp1 HG02293.hp2 others(1): Show HG02004.hp1 HG02273.hp1 HG02293.hp2 HG06807.hp2	a0003 a0009 a0003 a0009	a0003c0007 a0003c0014 a0009c0015 a0003c0007 a0003c0014 a0009c0015	a0003c0007t0003 a0003c0014t0003 a0009c0015t0002 a0003c0007t0003 a0003c0014t0003 a0009c0015t0002	a0003c0007t0003g0001 a0003c0007t0003g0003 a0003c0014t0003g0044 others(1): Show a0003c0007t0003g0001 a0003c0007t0003g0003 a0003c0014t0003g0044 a0009c0015t0002g0002	4	44	0.0909	108	c.771 others(125): Show c.771+2108_771+2215dupGCCTCCCTCCAGTCTCTGCCTCCGTGTC CCGTGGCCGCCTCCCTCCAGTCTCTGCCTCCGTGTCCCGTGGCCGCCTCC CTCCAGTCTCTGCCTCCGTGTCCCGTGGCC		TRPM2	ENSG00000142185.18	transcript	ENST00000397928.6	protein_coding	5/31					INFO_REALIGN_3_PRIME	chr21	TogoVar
TSR3_chr16_1344240_1356878	1345592	C C	CGCAACCC others(101): Show CGCAACCCCAGCCTCCTCCGCAACCCCAGCCTCCCCCACAACCCCAGCCT CCCCGGCCTCCTCCGCAACCCCAGCCTCCCCAGCCTCCCCAGCAACCCCA GCCTCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02257.hp2 HG02451.hp2 others(5): Show HG01109.hp1 HG02257.hp2 HG02451.hp2 HG02976.hp2 HG03130.hp2 HG03453.hp2 HG03579.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	8	364	0.0220	108	c.38 others(119): Show c.3844_*3845insTGGGGAGGCTGGGGTTGCTGGGGAGGCTGGGGAG GCTGGGGTTGCGGAGGAGGCCGGGGAGGCTGGGGTTGTGGGGGAGGCTGG GGTTGCGGAGGAGGCTGGGGTTGC		TSR3	ENSG00000007520.4	transcript	ENST00000007390.3	protein_coding					3647		chr16	TogoVar
TSR3_chr16_1344240_1356878	1345592	C C	CGCAACCC others(101): Show CGCAACCCCAGCCTCCTCCGCCTCCCCAGCCTCCCCCTCAACCCCAGCCT CCCCGGCCTCCTCCGCAACCCCAGCCTCCCCAGCCTCCCCAGCAACCCCA GCCTCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(102): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03491.hp1 HG03516.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18969.hp1 NA18970.hp1 NA18978.hp1 NA18980.hp2 NA18982.hp2 NA18989.hp2 NA18994.hp1 NA18995.hp1 NA18999.hp2 NA19011.hp2 NA19030.hp2 NA19054.hp2 NA19056.hp1 NA19078.hp1 NA19086.hp1 NA19087.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0004 a0001c0001t0001 a0001c0001t0002 a0001c0004t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0002g0003 a0001c0004t0004g0008	105	364	0.2885	108	c.38 others(119): Show c.3844_*3845insTGGGGAGGCTGGGGTTGCTGGGGAGGCTGGGGAG GCTGGGGTTGCGGAGGAGGCCGGGGAGGCTGGGGTTGAGGGGGAGGCTGG GGAGGCGGAGGAGGCTGGGGTTGC		TSR3	ENSG00000007520.4	transcript	ENST00000007390.3	protein_coding					3647		chr16	TogoVar
TSR3_chr16_1344240_1356878	1345592	C C	CGCAACCC others(101): Show CGCAACCCCAGCCTCCTCCGCCTCCCCAGCCTCCCCCTCAACCCCAGCTT CCCCGGCCTCCTCCGCAACCCCAGCCTCCCCAGCCTCCCCAGCAACCCCA GCCTCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	364	0.0028	108	c.38 others(119): Show c.3844_*3845insTGGGGAGGCTGGGGTTGCTGGGGAGGCTGGGGAG GCTGGGGTTGCGGAGGAGGCCGGGGAAGCTGGGGTTGAGGGGGAGGCTGG GGAGGCGGAGGAGGCTGGGGTTGC		TSR3	ENSG00000007520.4	transcript	ENST00000007390.3	protein_coding					3647		chr16	TogoVar
TTLL10_chr1_1168880_1202936	1176089	G G	GTGGAGAG others(101): Show GTGGAGAGGCTGCTGCTCCCAGCCACTGTGCAGGTGGAGAGAGGCTGACG CTGTGCAGGTGGAGAGAGGCTGACGCTGTGCAGCTGGAGAGAGGCTGACG CTGTACAGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00673.hp2 others(40): Show HG00323.hp1 HG00423.hp1 HG00673.hp2 HG02056.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp2 HG02280.hp2 HG02630.hp2 HG02717.hp1 HG02886.hp1 HG02895.hp1 HG03453.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp2 HG03831.hp1 HG04184.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18956.hp1 NA18960.hp2 NA18971.hp1 NA18973.hp1 NA18989.hp2 NA19003.hp1 NA19007.hp1 NA19043.hp1 NA19064.hp1 NA19079.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0004 a0007 a0012 others(4): Show a0004 a0007 a0012 a0014 a0034 a0035 a0036	a0004c0004 a0004c0023 a0004c0027 others(8): Show a0004c0004 a0004c0023 a0004c0027 a0007c0007 a0012c0018 a0012c0031 a0014c0022 a0014c0028 a0034c0026 a0035c0029 a0036c0030	a0004c0004t0004 a0004c0004t0005 a0004c0023t0001 others(11): Show a0004c0004t0004 a0004c0004t0005 a0004c0023t0001 a0004c0027t0001 a0007c0007t0003 a0007c0007t0004 a0007c0007t0005 a0012c0018t0002 a0012c0031t0003 a0014c0022t0001 a0014c0028t0010 a0034c0026t0005 a0035c0029t0004 a0036c0030t0004	a0004c0004t0004g0057 a0004c0004t0005g0015 a0004c0004t0005g0044 others(35): Show a0004c0004t0004g0057 a0004c0004t0005g0015 a0004c0004t0005g0044 a0004c0004t0005g0046 a0004c0004t0005g0047 a0004c0004t0005g0048 a0004c0004t0005g0049 a0004c0004t0005g0051 a0004c0004t0005g0053 a0004c0004t0005g0054 a0004c0004t0005g0055 a0004c0004t0005g0061 a0004c0004t0005g0062 a0004c0004t0005g0063 a0004c0004t0005g0064 a0004c0004t0005g0065 a0004c0004t0005g0068 a0004c0004t0005g0154 a0004c0023t0001g0016 a0004c0027t0001g0041 a0007c0007t0003g0058 a0007c0007t0004g0050 a0007c0007t0004g0158 a0007c0007t0005g0017 a0007c0007t0005g0018 a0007c0007t0005g0042 a0007c0007t0005g0066 a0007c0007t0005g0067 a0007c0007t0005g0069 a0012c0018t0002g0014 a0012c0018t0002g0040 a0012c0031t0003g0039 a0014c0022t0001g0045 a0014c0022t0001g0056 a0014c0028t0010g0052 a0034c0026t0005g0043 a0035c0029t0004g0059 a0036c0030t0004g0060	43	382	0.1126	108	c.-28 others(125): Show c.-28+1607_-28+1608insGCTGCTGCTCCCAGCCACTGTGCAGGTG GAGAGAGGCTGACGCTGTGCAGGTGGAGAGAGGCTGACGCTGTGCAGCTG GAGAGAGGCTGACGCTGTACAGCTGGAGAG		TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL10_chr1_1168880_1202936	1184655	G G	GGCCTTCT others(101): Show GGCCTTCTAGGTCAGGGGGATGTTCTCTTGGGGACCCCCATGAGGACAGG CCCTCCAGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCTCCCAGTT CATGCAGAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18522.hp1 HG03209.hp1 NA18522.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0006 a0001c0021t0006	a0001c0021t0006g0152 a0001c0021t0006g0153 a0001c0021t0006g0152 a0001c0021t0006g0153	2	382	0.0052	108	c.126 others(125): Show c.1261-303_1261-302insCAGGGGGATGTTCTCTTGGGGACCCCCA TGAGGACAGGCCCTCCAGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGT GCTCCCAGTTCATGCAGAAGCCTTCTAGGT		TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL10_chr1_1168880_1202936	1184655	G G	GGCCTTCT others(101): Show GGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGG CCCTCCAGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTT CATGCAGAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02683.hp1 HG02735.hp2 others(5): Show HG01175.hp1 HG02683.hp1 HG02735.hp2 HG03688.hp1 HG03927.hp2 HG04204.hp1 NA18906.hp2 NA19070.hp1	a0003 a0005 a0003 a0005	a0003c0005 a0005c0015 a0003c0005 a0005c0015	a0003c0005t0001 a0005c0015t0001 a0003c0005t0001 a0005c0015t0001	a0003c0005t0001g0010 a0003c0005t0001g0232 a0003c0005t0001g0241 others(3): Show a0003c0005t0001g0010 a0003c0005t0001g0232 a0003c0005t0001g0241 a0003c0005t0001g0251 a0003c0005t0001g0252 a0005c0015t0001g0219	8	382	0.0209	108	c.126 others(125): Show c.1261-259_1261-258insAGACAGTCTGGGAGCCAGTCTCCAGGCA CCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCT CTTGGGGACCCCCGTGAGGACAGGCCCTCC		TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL10_chr1_1168880_1202936	1184655	G G	GGCCTTCT others(101): Show GGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGG CCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTT CATGCAGAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00423.hp1 HG01109.hp1 HG03710.hp2 others(1): Show HG00423.hp1 HG01109.hp1 HG03710.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0004 a0001c0002 a0004c0004	a0001c0002t0001 a0004c0004t0005 a0001c0002t0001 a0004c0004t0005	a0001c0002t0001g0162 a0001c0002t0001g0268 a0001c0002t0001g0286 others(1): Show a0001c0002t0001g0162 a0001c0002t0001g0268 a0001c0002t0001g0286 a0004c0004t0005g0046	4	382	0.0105	108	c.126 others(120): Show c.1261-96_1272dupCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGAC CCCCGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCAC CGTGTGCCCCCAGTTCATGCAGAAG	p.Lys others(121): Show p.Lys424_Lys425insProSerArgLeuGlyGlyCysSerLeuGlyAs pProArgGluAspArgProSerGlyGlnSerGlySerGlnSerProGlyT hrValCysProGlnPheMetGlnLys	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	13/16	1450/2288	1273/2022	425/673		INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL10_chr1_1168880_1202936	1184655	G G	GGCCTTCT others(101): Show GGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGG CCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCTCCCAGTT CATGCAGAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01256.hp2 HG01258.hp1 others(25): Show HG00323.hp1 HG01256.hp2 HG01258.hp1 HG02056.hp1 HG02129.hp2 HG02165.hp2 HG02976.hp2 HG03041.hp1 HG03225.hp2 NA18612.hp2 NA18939.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18956.hp1 NA18961.hp2 NA18971.hp1 NA18973.hp1 NA18989.hp2 NA18990.hp1 NA19003.hp1 NA19007.hp1 NA19064.hp1 NA19068.hp2 NA19079.hp1 NA19091.hp2	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0007 a0008 a0011	a0001c0002 a0001c0003 a0003c0006 others(5): Show a0001c0002 a0001c0003 a0003c0006 a0004c0004 a0005c0010 a0007c0007 a0008c0008 a0011c0014	a0001c0002t0001 a0001c0003t0003 a0003c0006t0001 others(5): Show a0001c0002t0001 a0001c0003t0003 a0003c0006t0001 a0004c0004t0005 a0005c0010t0005 a0007c0007t0005 a0008c0008t0001 a0011c0014t0002	a0001c0002t0001g0021 a0001c0003t0003g0168 a0003c0006t0001g0296 others(21): Show a0001c0002t0001g0021 a0001c0003t0003g0168 a0003c0006t0001g0296 a0004c0004t0005g0015 a0004c0004t0005g0044 a0004c0004t0005g0047 a0004c0004t0005g0048 a0004c0004t0005g0051 a0004c0004t0005g0054 a0004c0004t0005g0055 a0004c0004t0005g0061 a0004c0004t0005g0063 a0004c0004t0005g0064 a0004c0004t0005g0065 a0004c0004t0005g0068 a0004c0004t0005g0154 a0005c0010t0005g0123 a0005c0010t0005g0218 a0007c0007t0005g0017 a0007c0007t0005g0018 a0007c0007t0005g0066 a0007c0007t0005g0067 a0008c0008t0001g0295 a0011c0014t0002g0278	28	382	0.0733	108	c.126 others(125): Show c.1261-223_1261-222insTCCCAGTTCATGCAGAAGCCTTCTAGGT TAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCTCCGGACAG TCTGGGAGCCAGTCTCCAGGCACCGTGTGC		TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL10_chr1_1168880_1202936	1184689	C C	CCCCCGTG others(101): Show CCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCA CCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCT CTTGGGGAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18906.hp1 NA18975.hp2 others(1): Show HG02280.hp2 NA18906.hp1 NA18975.hp2 NA18984.hp2	a0002 a0011 a0035 others(1): Show a0002 a0011 a0035 a0036	a0002c0001 a0011c0014 a0035c0029 others(1): Show a0002c0001 a0011c0014 a0035c0029 a0036c0030	a0002c0001t0002 a0011c0014t0002 a0035c0029t0004 others(1): Show a0002c0001t0002 a0011c0014t0002 a0035c0029t0004 a0036c0030t0004	a0002c0001t0002g0194 a0011c0014t0002g0193 a0035c0029t0004g0059 others(1): Show a0002c0001t0002g0194 a0011c0014t0002g0193 a0035c0029t0004g0059 a0036c0030t0004g0060	4	382	0.0105	108	c.126 others(125): Show c.1261-173_1261-172insTCCCCGTGAGGACAGGCCCTCCGGACAG TCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATGCAGAAGCC TTCTAGGTTAGGGGGATGTTCTCTTGGGGA		TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL10_chr1_1168880_1202936	1184694	G G	GTGAGGAC others(101): Show GTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTG TGCTCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGG GGACCCCCA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0053 a0004c0004t0005g0053	1	382	0.0026	108	c.126 others(125): Show c.1261-223_1261-222insTCCCAGTTCATGCAGAAGCCTTCTAGGT TAGGGGGATGTTCTCTTGGGGACCCCCATGAGGACAGGCCCTCCGGACAG TCTGGGAGCCAGTCTCCAGGCACCGTGTGC		TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL10_chr1_1168880_1202936	1184711	G G	GGACAGTC others(101): Show GGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCTCCCAGTTCATGCA GAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACA GGCCCTCCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03195.hp1 HG02965.hp2 HG03195.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0010 a0001c0003 a0005c0010	a0001c0003t0003 a0005c0010t0003 a0001c0003t0003 a0005c0010t0003	a0001c0003t0003g0020 a0005c0010t0003g0020 a0001c0003t0003g0020 a0005c0010t0003g0020	2	382	0.0052	108	c.126 others(125): Show c.1261-223_1261-222insTCCCAGTTCATGCAGAAGCCTTCTAGGT TAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCTCCAGACAG TCTGGGAGCCAGTCTCCAGGCACCGTGTGC		TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL10_chr1_1168880_1202936	1184927	G G	GGACAGTC others(101): Show GGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATGCA GAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACA GGCCCTCCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01106.hp2 HG01192.hp1 HG01515.hp2 others(5): Show HG01106.hp2 HG01192.hp1 HG01515.hp2 HG01928.hp2 HG02630.hp1 HG03540.hp1 HG03654.hp2 HG04115.hp2	a0001 a0002 a0023 a0001 a0002 a0023	a0001c0002 a0001c0003 a0001c0052 others(2): Show a0001c0002 a0001c0003 a0001c0052 a0002c0001 a0023c0048	a0001c0002t0001 a0001c0003t0003 a0001c0052t0001 others(2): Show a0001c0002t0001 a0001c0003t0003 a0001c0052t0001 a0002c0001t0002 a0023c0048t0001	a0001c0002t0001g0037 a0001c0002t0001g0155 a0001c0003t0003g0106 others(4): Show a0001c0002t0001g0037 a0001c0002t0001g0155 a0001c0003t0003g0106 a0001c0003t0003g0149 a0001c0052t0001g0229 a0002c0001t0002g0178 a0023c0048t0001g0285	8	382	0.0209	108	c.127 others(117): Show c.1272_1273insCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCC CGTGAGGACAGGCCCTCCAGACAGTCTGGGAGCCAGTCTCCAGGCACCGT GTGCCCCCAGTTCATGCAGAAG	p.Lys others(121): Show p.Lys424_Lys425insProSerArgLeuGlyGlyCysSerLeuGlyAs pProArgGluAspArgProSerArgGlnSerGlySerGlnSerProGlyT hrValCysProGlnPheMetGlnLys	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	13/16	1450/2288	1273/2022	425/673		INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL10_chr1_1168880_1202936	1184963	C C	CCCCAGTT others(101): Show CCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGA CCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCA CCGTGTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02965.hp2 HG03195.hp1 HG02965.hp2 HG03195.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0010 a0001c0003 a0005c0010	a0001c0003t0003 a0005c0010t0003 a0001c0003t0003 a0005c0010t0003	a0001c0003t0003g0020 a0005c0010t0003g0020 a0001c0003t0003g0020 a0005c0010t0003g0020	2	382	0.0052	108	c.127 others(117): Show c.1272_1273insCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCC CGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGT GTGCTCCCAGTTCATGCAGAAG	p.Lys others(121): Show p.Lys424_Lys425insProSerArgLeuGlyGlyCysSerLeuGlyAs pProArgGluAspArgProSerGlyGlnSerGlySerGlnSerProGlyT hrValCysSerGlnPheMetGlnLys	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	13/16	1450/2288	1273/2022	425/673		INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL7_chr1_83860024_84004132	83892423	T T	TATGAACA others(101): Show TATGAACATATATACGAACATATATACGAACATATATACGAACATATATA CGAACATATATACGAATATATATACGAACATATATACGAACATATATATG AACATATGA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0171 a0001c0001t0005g0171	1	302	0.0033	108	c.220 others(127): Show c.2209-1943_2209-1942insTCATATGTTCATATATATGTTCGTAT ATATGTTCGTATATATATTCGTATATATGTTCGTATATATGTTCGTATAT ATGTTCGTATATATGTTCGTATATATGTTCAT		TTLL7	ENSG00000137941.17	transcript	ENST00000260505.13	protein_coding	18/20						chr1	TogoVar
TTLL8_chr22_50013575_50063298	50057640	T T	TGGGGTCA others(101): Show TGGGGTCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGGGGTCAGGTCTG GGTTGAGCAGAAGGTCTGGGTTGGGGGTCAGGTCTGGGTTGGGGGTCAGG TCTGGGTTG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0184 a0008c0008t0001g0184	1	224	0.0045	108	c.-39 others(123): Show c.-39+513_-39+514insCAACCCAGACCTGACCCCCAACCCAGACCT GACCCCCAACCCAGACCTTCTGCTCAACCCAGACCTGACCCCCCAACCCA GACCTGACCCCAACCCAGACCTGACCCC		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	1/13						chr22	TogoVar
TTLL8_chr22_50013575_50063298	50057640	T T	TGGGGTCA others(101): Show TGGGGTCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGGGGTCAGGTCTG GGTTGAGCGGAAGGTCTGGGTTGGGGGTCAGGTCTGGGTTGGGGGTCAGG TCTGGGTTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00733.hp2 HG01175.hp1 others(47): Show HG00438.hp2 HG00733.hp2 HG01175.hp1 HG01192.hp1 HG01346.hp2 HG01515.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02280.hp2 HG02293.hp1 HG02523.hp2 HG03239.hp2 HG03471.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 NA18747.hp1 NA18747.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18963.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18980.hp1 NA18986.hp2 NA18994.hp2 NA19000.hp2 NA19002.hp1 NA19011.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0014	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0008c0008 a0014c0024	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 a0005c0005t0001 a0005c0005t0002 a0006c0006t0002 a0008c0008t0001 a0014c0024t0001	a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0168 others(45): Show a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0002g0155 a0001c0001t0002g0183 a0002c0002t0001g0142 a0002c0002t0001g0146 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0159 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0177 a0002c0002t0001g0181 a0002c0002t0001g0216 a0002c0002t0002g0145 a0003c0003t0001g0005 a0003c0003t0001g0140 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0154 a0003c0003t0001g0157 a0003c0003t0001g0163 a0003c0003t0001g0166 a0003c0003t0001g0179 a0003c0003t0002g0160 a0003c0003t0002g0171 a0003c0003t0002g0172 a0004c0004t0001g0141 a0004c0004t0001g0144 a0004c0004t0001g0178 a0004c0004t0002g0004 a0004c0004t0002g0161 a0004c0004t0002g0162 a0004c0004t0002g0167 a0004c0004t0004g0217 a0005c0005t0001g0139 a0005c0005t0002g0176 a0006c0006t0002g0158 a0006c0006t0002g0175 a0008c0008t0001g0164 a0008c0008t0001g0165 a0014c0024t0001g0182	50	224	0.2232	108	c.-39 others(123): Show c.-39+513_-39+514insCAACCCAGACCTGACCCCCAACCCAGACCT GACCCCCAACCCAGACCTTCCGCTCAACCCAGACCTGACCCCCCAACCCA GACCTGACCCCAACCCAGACCTGACCCC		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	1/13						chr22	TogoVar
TUBGCP2_chr10_133273635_133313872	133292211	T T	TCCCTCCG others(101): Show TCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGT CCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCC CTCCGTGTC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	284	0.0035	108	c.121 others(125): Show c.1214+287_1214+288insGACACGGAGGGACATGGGGGACACGGAG GGACACGGAGGGACATGGGGGACACGGAGGGACACGGAGGGACATGGGGG ACACGGAGGGACACGGAGGGACACGGAGGG		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133292296	T T	TCCCTCCG others(101): Show TCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGT CCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCC CTCCGTGTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	284	0.0035	108	c.121 others(125): Show c.1214+202_1214+203insGACACGGAGGGACATGGGGGACACGGAG GGACACGGAGGGACATGGGGGACACGGAGGGACACGGAGGGACATGGGGG ACACGGAGGGACACGGAGGGACACGGAGGG		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TUBGCP5_chr15_22994177_23044569	23042039	A A	AGGACTTC others(101): Show AGGACTTCATAACCACACCTGGCCAGAGGTGCCGGGGGGGCATCATAACC ACACCTGGCCAGAGGTGCCGGGGGGACTTCATAACCACACCTGGCCAGAG GTGCCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	351	0.0029	108	c.-24 others(119): Show c.-2497_-2496insCCCCGGCACCTCTGGCCAGGTGTGGTTATGAAGT CCCCCCGGCACCTCTGGCCAGGTGTGGTTATGATGCCCCCCCGGCACCTC TGGCCAGGTGTGGTTATGAAGTCC		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					2471		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23042634	T T	TTCATAAC others(101): Show TTCATAACCACACCTGGCCAGAGGTGCCGGGAGGACTTCATAACCCCACC TGGCCAGAGGTGCTGGGGGACATCATAACCCCACCTGGCCAGAGGTGCCA GGGGGGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	351	0.0029	108	c.-30 others(119): Show c.-3092_-3091insTGTCCCCCCTGGCACCTCTGGCCAGGTGGGGTTA TGATGTCCCCCAGCACCTCTGGCCAGGTGGGGTTATGAAGTCCTCCCGGC ACCTCTGGCCAGGTGTGGTTATGA		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					3066		chr15	TogoVar
TYMS_chr18_652653_678578	667047	T T	TGATGGTG others(101): Show TGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTG ATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGAGATGGTGAT GGTGATGGA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18962.hp1 NA18952.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0218 a0001c0001t0002g0206 a0001c0001t0002g0218	2	482	0.0042	108	c.455 others(125): Show c.455-2020_455-2019insTGATGGTGATGGTGATGGAGATGGTGAT GGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGGTGATGGAGATGG TGATGGAGATGGTGATGGTGATGGAGATGG		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
UBE2J1_chr6_89321625_89357722	89339601	G G	GGAGGGGG others(101): Show GGAGGGGGAAGGGGAGGAGGGAAGGAGTGGGGGAGGAGGGAAGGAGGGGG GGGAGGAGGGAAGGAGGGGGGGAGGAGGGAAGGAGGGGAGGGGGAAGGGG AGGGGAGGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0182 a0001c0001t0013g0182	1	410	0.0024	108	c.238 others(125): Show c.238-1059_238-1058insTCCTCCCCTCCCCTTCCCCCTCCCCTCC TTCCCTCCTCCCCCCCTCCTTCCCTCCTCCCCCCCCTCCTTCCCTCCTCC CCCACTCCTTCCCTCCTCCCCTTCCCCCTC		UBE2J1	ENSG00000198833.7	transcript	ENST00000435041.3	protein_coding	3/7						chr6	TogoVar
UBE2QL1_chr5_6443859_6501723	6499526	T T	TCAACTAA others(101): Show TCAACTAACAACGGAGGAGGAGGAAAAGAGAGAGATCTCTCTCAACAACA ACAACGGAGGAGGGAGGAAAAGAGAGAGATCTCTCGTCAACAACAACAAC GGAGGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0037 a0001c0001t0030g0037	1	340	0.0029	108	c.81 others(119): Show c.8177_*8178insCAACTAACAACGGAGGAGGAGGAAAAGAGAGAGA TCTCTCTCAACAACAACAACGGAGGAGGGAGGAAAAGAGAGAGATCTCTC GTCAACAACAACAACGGAGGAGGA		UBE2QL1	ENSG00000215218.4	transcript	ENST00000399816.4	protein_coding					2804		chr5	TogoVar
UBE2U_chr1_64198623_64272368	64239068	G G	GGAAGAGG others(101): Show GGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAG AGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAA GAAGAGGAA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	330	0.0030	108	c.596 others(125): Show c.596-2573_596-2572insAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGA AGAAGAGGAAGAAGAGGAAGAAGAGGAAGA		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(101): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAG AAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	330	0.0030	108	c.596 others(125): Show c.596-2494_596-2493insGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAAGAAGAAGAAGAAGA		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE3A_chr15_25328728_25444024	25430230	T T	TATATATA others(101): Show TATATATAAGATTATATATATATTATATATAATACATATATATAAGATTA TATATATATTATATATATAATACATATATAAGATTATATATATATTATAT ATATAATAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	298	0.0034	108	c.-16 others(127): Show c.-165+8258_-165+8259insGTATTATATATATAATATATATATAA TCTTATATATGTATTATATATATAATATATATATAATCTTATATATATGT ATTATATATAATATATATATAATCTTATATAT		UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12						chr15	TogoVar
UCN3_chr10_5359966_5379692	5370214	T T	TGTGTGTA others(101): Show TGTGTGTATATGCGTGTGTGTATGCGTGTGTGTATGCGTGTGTATATGCG TGTGTATATGCGTGTGTATGTGCGTGTGTATGTGTGTGTGTATGTGTGTG TGTATATGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp2 HG02572.hp1 HG02647.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0002 a0002c0001t0001 a0002c0001t0002	a0002c0001t0001g0226 a0002c0001t0002g0250 a0002c0001t0001g0226 a0002c0001t0002g0250	2	468	0.0043	108	c.-6- others(123): Show c.-6-3493_-6-3492insATGCGTGTGTGTATGCGTGTGTGTATGCGT GTGTATATGCGTGTGTATATGCGTGTGTATGTGCGTGTGTATGTGTGTGT GTATGTGTGTGTGTATATGCGTGTGTAT		UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370869	A A	ATATGTGT others(101): Show ATATGTGTGTATGTGTGTGTATGTGTGTGTTTATGTGTGTATATGTGTGT GTATATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATATGTGTGTGTGT ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0090 a0001c0002t0020g0090	1	468	0.0021	108	c.-6- others(123): Show c.-6-2845_-6-2844insATGTGTGTATGTGTGTGTATGTGTGTGTTT ATGTGTGTATATGTGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGT GTGTATATGTGTGTGTGTATGTGTGTGT		UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr10	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGGGTTCG others(101): Show CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGG TTCGGCTCG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0223	1	344	0.0029	108	c.218 others(125): Show c.2182+106_2182+107insGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGACGGGGGTCGGGTTCGGCTCGG		ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTGGG others(101): Show CGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGG TGGGGCTTG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0239 a0001c0002t0001g0239	1	344	0.0029	108	c.218 others(125): Show c.2182+158_2182+159insGGTGGGGCTCGGAGGCTGTGGGACGGGG GTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGACGGGGGTCGGGTGGGGCTTGG		ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTGGG others(101): Show CGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGG TTCGGCTCG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	344	0.0029	108	c.218 others(125): Show c.2182+158_2182+159insGGTGGGGCTTGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAG GCTGTGGGACGGGGGTCGGGTTCGGCTCGG		ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTTCG others(101): Show CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0074 a0001c0012t0001g0074	1	344	0.0029	108	c.218 others(125): Show c.2182+158_2182+159insGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGG		ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTTCG others(101): Show CGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGG TTCGGCTCG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0302 a0001c0001t0002g0302	1	344	0.0029	108	c.218 others(125): Show c.2182+158_2182+159insGGTTCGGCTCGGAGGCTGTGGGATGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGACGGGGGTCGGGTTCGGCTCGG		ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
UMODL1_chr21_42066317_42147996	42146421	C C	CGTCTCTG others(101): Show CGTCTCTGTCCCTCCTGGGGAGGAGGGCTGTGGTGGGAGTCAACCCTCGC ATCCCATCTCTGTCCCTCTTGGGGAGGAGGGCTGTGGTGGGAGTCACCCC CCGCACTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0006 a0013c0019t0006	a0013c0019t0006g0061 a0013c0019t0006g0061	1	400	0.0025	108	c.43 others(119): Show c.4347_*4348insGTCTCTGTCCCTCCTGGGGAGGAGGGCTGTGGTG GGAGTCAACCCTCGCATCCCATCTCTGTCCCTCTTGGGGAGGAGGGCTGT GGTGGGAGTCACCCCCCGCACTGT		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding					3426		chr21	TogoVar
UNC13A_chr19_17596336_17693354	17631222	T T	TCTTCAGA others(101): Show TCTTCAGATAAACTGCCCATGGCAAGTGGGTTTATTCTCTGAGCTCTTGT TTTCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCTTCCCTC CCTCCCTCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0002 a0001c0071t0002	a0001c0071t0002g0313 a0001c0071t0002g0313	1	320	0.0031	108	c.342 others(125): Show c.3429-473_3429-472insGGAGGGAGGGAGGGAAGGAGGGAGGAAG GAAGGAAAGGAGGGAGGGAGGGAGGGAGAAAACAAGAGCTCAGAGAATAA ACCCACTTGCCATGGGCAGTTTATCTGAAG		UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	28/43						chr19	TogoVar
UNC13C_chr15_53973441_54633605	54552852	A A	ATTTATAT others(101): Show ATTTATATATTGTATAATATAATTATGTATTCTATATTACAATATATTAT ATATTATATTCTATATTACAATATATAATATATATTGTATTCTATATTAC AATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp1 HG02559.hp2 HG02615.hp1	a0006 a0011 a0006 a0011	a0006c0013 a0011c0039 a0006c0013 a0011c0039	a0006c0013t0014 a0011c0039t0001 a0006c0013t0014 a0011c0039t0001	a0006c0013t0014g0151 a0011c0039t0001g0037 a0006c0013t0014g0151 a0011c0039t0001g0037	2	158	0.0127	108	c.587 others(127): Show c.5878-2579_5878-2578insTTATATATTGTATAATATAATTATGT ATTCTATATTACAATATATTATATATTATATTCTATATTACAATATATAA TATATATTGTATTCTATATTACAATATATATT		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	28/32					INFO_REALIGN_3_PRIME	chr15	TogoVar
UNG_chr12_109092597_109115992	109106893	A A	ATATATAT others(101): Show ATATATATATACGTGTATATATATATATATACGTATATATATATATACGT ATATATATATGTGTATATATATATGTATATATATGTGTATATATATGTAT ATATATGTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02280.hp2 HG02717.hp1 others(2): Show HG01167.hp1 HG02280.hp2 HG02717.hp1 HG02723.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0067 a0001c0001t0003g0011 a0001c0001t0003g0067	5	452	0.0111	108	c.802 others(125): Show c.802-2923_802-2922insGTATATATATATATATACGTATATATAT ATATACGTATATATATATGTGTATATATATATGTATATATATGTGTATAT ATATGTATATATATGTGTATATATATACGT		UNG	ENSG00000076248.12	transcript	ENST00000242576.7	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr12	TogoVar
UPK3A_chr22_45279949_45300874	45282183	T T	TAGAAAGA others(101): Show TAGAAAGAAAGAAAGAAAGAAAGAAAGACAAAGAAAGAAGAAAGAGAGGA AGGAAGGAAGGAAGGAGAAAGAAAGAAGGAAGGAAAGAAAGGAAGGAAGG AAGGTAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG03041.hp2 HG02145.hp1 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0112 a0001c0002t0001g0010 a0001c0002t0001g0112	2	444	0.0045	108	c.-28 others(119): Show c.-2831_-2830insAGAAAGAAAGAAAGAAAGAAAGAAAGACAAAGAA AGAAGAAAGAGAGGAAGGAAGGAAGGAAGGAGAAAGAAAGAAGGAAGGAA AGAAAGGAAGGAAGGAAGGTAGAA		UPK3A	ENSG00000100373.10	transcript	ENST00000216211.9	protein_coding					2765		chr22	TogoVar
UQCC6_chr12_103945194_103962215	103958922	T T	TGGGATTT others(101): Show TGGGATTTGTGTGGTGATTTGTGTGTATGGGGGTTTTGGGGGGGTTATGG GGTTTGTTGGGGTGTTGTGGTGGGTTATGGGGATTATGGATGGGTTGGGG GTGGTGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0006	1	462	0.0022	108	c.-18 others(119): Show c.-1865_-1864insCCACACCACCCCCAACCCATCCATAATCCCCATA ACCCACCACAACACCCCAACAAACCCCATAACCCCCCCAAAACCCCCATA CACACAAATCACCACACAAATCCC		UQCC6	ENSG00000204954.10	transcript	ENST00000378090.9	protein_coding					1708		chr12	TogoVar
USH2A_chr1_215617891_216428448	215836498	A A	ATATAATA others(101): Show ATATAATATATATATATTATATATATATATAATATATATATATTATATAT ATATATAATATATATATATTATATATATATATAATATATATATTATATAT ATATAATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0010 a0010	a0010c0065 a0010c0065	a0010c0065t0004 a0010c0065t0004	a0010c0065t0004g0074 a0010c0065t0004g0074	1	74	0.0135	108	c.937 others(127): Show c.9371+1492_9371+1493insATATTATATATATATAATATATATAT TATATATATATATAATATATATATATTATATATATATATAATATATATAT ATTATATATATATATAATATATATATATTATA		USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	47/71						chr1	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ATATATAT others(101): Show ATATATATATACATATATATATATACATATATATATATATACATATATAT ATATATACATATATATATATATACATATATATATATATATATATATATAT ATATTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	396	0.0025	108	c.84- others(123): Show c.84-1281_84-1280insATATATATACATATATATATATACATATAT ATATATATACATATATATATATATACATATATATATATATACATATATAT ATATATATATATATATATATATTTTTTT		USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ATATATAT others(101): Show ATATATATATATACATATATATATATACATATATATATATATACATATAT ATATATATACATATATATATATATACATATATATATATATATATATATAT ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	396	0.0025	108	c.84- others(123): Show c.84-1281_84-1280insATATATATATACATATATATATATACATAT ATATATATATACATATATATATATATACATATATATATATATACATATAT ATATATATATATATATATATTTTTTTTT		USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(101): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTCCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCCTTCTTTCTT TCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	306	0.0033	108	c.205 others(125): Show c.205-6028_205-6027insCCTTCCTTCCTTCCTTCCTTCCTTTCTT TCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTC TTTCTTTCCTTCTTTCTTTCTTTCTTTCTT		VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(101): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCCTTCTTTCTT TCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	306	0.0033	108	c.205 others(125): Show c.205-6028_205-6027insCCTTCCTTCCTTCCTTTCTTTCTTCCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTC TTTCTTTCCTTCTTTCTTTCTTTCTTTCTT		VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(101): Show CCTTCCTTCCTTCCTTTCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCCTTCTTTCTTTCCTTCCTTCTTTCTTTCTTTCTTTCTT TCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	306	0.0033	108	c.205 others(125): Show c.205-6028_205-6027insCCTTCCTTCCTTTCTTCCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCCTTCCTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTT		VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(101): Show CCTTCCTTCCTTCCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCCTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTT TCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	306	0.0033	108	c.205 others(125): Show c.205-6028_205-6027insCCTTCCTTCCTTTCTTTCTTCCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCCTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTT		VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6832561	C C	CCTTCCTC others(101): Show CCTTCCTCCCCTTCCTCCTCCTCGCCCTCCTCTTCCTCTTCCTCCCCTTC CTCCTCCTCGCCCTCCTCTTCCTCTTCCTCCCCTTCCTCCTCCTCGCCCT CCTCTTCCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	306	0.0033	108	c.150 others(125): Show c.1508+405_1508+406insCCTTCCTCCTCCTCGCCCTCCTCTTCCT CTTCCTCCCCTTCCTCCTCCTCGCCCTCCTCTTCCTCTTCCTCCCCTTCC TCCTCCTCGCCCTCCTCTTCCTCTTCCTCC		VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	15/26					INFO_REALIGN_3_PRIME	chr19	TogoVar
VCX2_chrX_8164944_8176267	8169657	T T	TCCCCCCT others(101): Show TCCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACAC CTCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	115	0.0087	108	c.37 others(117): Show c.374_*375insGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGGGGG		VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding					286		chrX	TogoVar

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Search Results (Total: 10000 hits)