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
UBE2W_chr8_73781219_73883862	73805461	A A	AAAAAAAA others(18): Show AAAAAAAAAACAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0157 a0001c0001t0004g0157	1	266	0.0038	25	c.442 others(40): Show c.442+189_442+190insGTTTTTTTTTTTTTTGTTTTTTTTT	UBE2W	ENSG00000104343.21	transcript	ENST00000602593.6	protein_coding	5/5			chr8	TogoVar
UBE2W_chr8_73781219_73883862	73805465	A A	AAAAAACA others(18): Show AAAAAACAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	266	0.0038	25	c.442 others(40): Show c.442+185_442+186insGTTTTTTTTTTTTTTTTTTGTTTTT	UBE2W	ENSG00000104343.21	transcript	ENST00000602593.6	protein_coding	5/5			chr8	TogoVar
UBE2W_chr8_73781219_73883862	73805467	A A	AAAACAAA others(18): Show AAAACAAAAAAAAAAAAAAAACAAAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0001 a0001c0001t0030g0001	1	266	0.0038	25	c.442 others(40): Show c.442+183_442+184insGTTTGTTTTTTTTTTTTTTTTGTTT	UBE2W	ENSG00000104343.21	transcript	ENST00000602593.6	protein_coding	5/5			chr8	TogoVar
UBE2W_chr8_73781219_73883862	73805467	A A	AAAACAAA others(18): Show AAAACAAAAAAAAAAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0002 a0001c0001t0030g0002	1	266	0.0038	25	c.442 others(40): Show c.442+183_442+184insGTTTGTTTGTTTTTTTTTTTTGTTT	UBE2W	ENSG00000104343.21	transcript	ENST00000602593.6	protein_coding	5/5			chr8	TogoVar
UBE2W_chr8_73781219_73883862	73805472	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG03654.hp1 HG02004.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0176 a0001c0001t0001g0147 a0001c0001t0001g0176	2	266	0.0075	25	c.442 others(40): Show c.442+178_442+179insTTTTTTTTTTTTTTTTTTTTTTTTT	UBE2W	ENSG00000104343.21	transcript	ENST00000602593.6	protein_coding	5/5			chr8	TogoVar
UBE3A_chr15_25328728_25444024	25332812	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0270 a0001c0001t0017g0270	1	298	0.0034	25	c.63 others(36): Show c.6324_*6325insAAAAAAAAAAAAAAAAAAAAAAAAA	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding		915		chr15	TogoVar
UBE3A_chr15_25328728_25444024	25430027	C C	CCTATATA others(18): Show CCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0065 a0001c0001t0019g0065	1	298	0.0034	25	c.-16 others(44): Show c.-165+8461_-165+8462insTATATATATATATATATATATATAG	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12			chr15	TogoVar
UBE4B_chr1_10027958_10186239	10183142	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0004 a0001c0003t0002g0004	1	222	0.0045	25	c.31 others(36): Show c.3186_*3187insTTTTTTTTTTTTTTTTTTTTTTTTT	UBE4B	ENSG00000130939.20	transcript	ENST00000343090.11	protein_coding		1904		chr1	TogoVar
UBL7_chr15_74440977_74466160	74459932	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	362	0.0028	25	c.-29 others(42): Show c.-29-1061_-29-1037dupTTTTTTTTTTTTTTTTTTTTTTTTT	UBL7	ENSG00000138629.16	transcript	ENST00000395081.7	protein_coding	1/10			chr15	TogoVar
UBR2_chr6_42559029_42698505	42622405	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18983.hp2 NA19054.hp2 NA18963.hp1 NA18983.hp2 NA19054.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0320 a0003c0007t0006g0321 a0003c0007t0006g0322 a0003c0007t0006g0320 a0003c0007t0006g0321 a0003c0007t0006g0322	3	342	0.0088	25	c.128 others(44): Show c.1281+4912_1281+4913insTTTTTTTTTTTTTTTTTTTTTTTTT	UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	11/46		INFO_REALIGN_3_PRIME	chr6	TogoVar
UBR3_chr2_169822454_170089131	169831127	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01257.hp2 NA20905.hp2 HG01256.hp1 HG01257.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179	3	324	0.0093	25	c.545 others(42): Show c.545+3076_545+3077insATATATATATATATATATATATATT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169831128	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0171 a0001c0002t0002g0171	1	324	0.0031	25	c.545 others(42): Show c.545+3076_545+3077insATATATATATATATATATATATATA	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38			chr2	TogoVar
UBR3_chr2_169822454_170089131	169954165	T T	TTTGTCTT others(18): Show TTTGTCTTGTCTTGTCTTGTCTTGTC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0273 a0001c0007t0007g0273	1	324	0.0031	25	c.354 others(44): Show c.3545+4138_3545+4162dupGTCTTGTCTTGTCTTGTCTTGTCTT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	23/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169954223	G G	GTCTTGTC others(18): Show GTCTTGTCTTGTCTTGTCTTGTCTTC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0222 a0001c0005t0003g0222	1	324	0.0031	25	c.354 others(44): Show c.3545+4162_3545+4163insGTCTTGTCTTGTCTTGTCTTCTCTT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	23/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169955793	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0269 a0001c0006t0005g0269	1	324	0.0031	25	c.354 others(44): Show c.3546-2627_3546-2626insAAAAAAAAAAAAAAAAAAAAAAAAA	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	23/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169983252	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0189 a0001c0006t0014g0189	1	324	0.0031	25	c.363 others(44): Show c.3635-3371_3635-3370insTTTTTTTTTTTTTTTTTTTTTTTTT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	170001912	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19007.hp1 HG03486.hp1 NA19007.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0002 a0002c0004t0019 a0001c0003t0002 a0002c0004t0019	a0001c0003t0002g0238 a0002c0004t0019g0295 a0001c0003t0002g0238 a0002c0004t0019g0295	2	324	0.0062	25	c.402 others(42): Show c.4029+504_4029+528dupAAAAAAAAAAAAAAAAAAAAAAAAA	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	27/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR4_chr1_19069510_19215266	19072402	G G	GCTGGAGC others(18): Show GCTGGAGCCCAGACCAGCCTCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02155.hp2 HG02165.hp2 others(9): Show HG00735.hp2 HG02155.hp2 HG02165.hp2 HG02683.hp1 HG02698.hp1 HG02965.hp1 HG03654.hp2 HG04199.hp1 NA18612.hp2 NA18941.hp1 NA18945.hp2 NA19003.hp2	a0002 a0029 a0002 a0029	a0002c0006 a0029c0052 a0002c0006 a0029c0052	a0002c0006t0001 a0029c0052t0001 a0002c0006t0001 a0029c0052t0001	a0002c0006t0001g0165 a0002c0006t0001g0277 a0002c0006t0001g0278 others(9): Show a0002c0006t0001g0165 a0002c0006t0001g0277 a0002c0006t0001g0278 a0002c0006t0001g0279 a0002c0006t0001g0280 a0002c0006t0001g0281 a0002c0006t0001g0282 a0002c0006t0001g0283 a0002c0006t0001g0284 a0002c0006t0001g0285 a0002c0006t0001g0323 a0029c0052t0001g0155	12	326	0.0368	25	c.24 others(36): Show c.2429_*2430insGAGTGGAGGCTGGTCTGGGCTCCAG	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding		2107		chr1	TogoVar
UBR5_chr8_102247273_102417700	102283341	C C	CGGGGGGG others(18): Show CGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	328	0.0031	25	c.569 others(44): Show c.5696+1785_5696+1786insCCCCCCCCCCCCCCCCCCCCCCCCC	UBR5	ENSG00000104517.13	transcript	ENST00000520539.6	protein_coding	40/58			chr8	TogoVar
UBR5_chr8_102247273_102417700	102387719	A A	AAATGGAA others(18): Show AAATGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03209.hp2 HG03486.hp2 HG02486.hp1 HG03209.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0010g0217 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0010g0217	3	328	0.0092	25	c.62+ others(42): Show c.62+24453_62+24454insCCTTCCTTCCTTCCTTCCTTCCATT	UBR5	ENSG00000104517.13	transcript	ENST00000520539.6	protein_coding	1/58			chr8	TogoVar
UBXN11_chr1_26277282_26311636	26309569	T T	TTGGGAAA others(18): Show TTGGGAAAGTCAGAGCCTTATTATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0127 a0004c0005t0001g0127	1	370	0.0027	25	c.-30 others(36): Show c.-3038_-3014dupTTATAATAAGGCTCTGACTTTCCCA	UBXN11	ENSG00000158062.21	transcript	ENST00000374222.6	protein_coding		2934		chr1	TogoVar
UBXN7_chr3_196342662_196437427	196401823	G G	GAGAGAAG others(18): Show GAGAGAAGAGAAGAGAAGAGAAGAGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG00735.hp1 others(28): Show HG00597.hp1 HG00621.hp1 HG00735.hp1 HG01496.hp1 HG01516.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG02071.hp2 HG02148.hp1 HG02155.hp1 HG02683.hp1 HG03453.hp2 HG03492.hp1 HG03831.hp1 HG04115.hp1 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18964.hp1 NA18968.hp2 NA18971.hp2 NA18979.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp2 NA19004.hp1 NA19010.hp1 NA19070.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0001c0001t0021 a0001c0001t0025 a0001c0001t0032 a0001c0001t0066 a0001c0001t0069 a0002c0005t0006	a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0018 others(28): Show a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0111 a0001c0001t0008g0037 a0001c0001t0008g0040 a0001c0001t0008g0069 a0001c0001t0015g0229 a0001c0001t0021g0023 a0001c0001t0025g0103 a0001c0001t0025g0110 a0001c0001t0032g0071 a0001c0001t0066g0028 a0001c0001t0069g0226 a0002c0005t0006g0179	31	274	0.1131	25	c.289 others(42): Show c.289+1104_289+1128dupTCTCTTCTCTTCTCTTCTCTTCTCT	UBXN7	ENSG00000163960.12	transcript	ENST00000296328.9	protein_coding	3/10			chr3	TogoVar
UCHL3_chr13_75544791_75611020	75571976	C C	CTGTCTTG others(18): Show CTGTCTTGTCTTGTCTTGTCTTGTCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02145.hp2 others(9): Show HG01243.hp1 HG01891.hp2 HG02145.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03540.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0058 a0001c0001t0001g0063 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0088 a0001c0001t0001g0122 a0001c0001t0001g0123	12	326	0.0368	25	c.474 others(42): Show c.474+2496_474+2520dupGTCTTGTCTTGTCTTGTCTTGTCTT	UCHL3	ENSG00000118939.19	transcript	ENST00000377595.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UCHL5_chr1_193007254_193064360	193043151	T T	TTAAAAAA others(18): Show TTAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01071.hp1 HG00738.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	2	308	0.0065	25	c.246 others(42): Show c.246+6594_246+6595insTTTTTTTTTTTTTTTTTTTTTTTTA	UCHL5	ENSG00000116750.14	transcript	ENST00000367454.6	protein_coding	3/10			chr1	TogoVar
UGCG_chr9_111891814_111940369	111894990	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0398 a0001c0001t0025g0398	1	424	0.0024	25	c.-22 others(36): Show c.-2226_-2225insTTTTTTTTTTTTTTTTTTTTTTTTT	UGCG	ENSG00000148154.10	transcript	ENST00000374279.4	protein_coding		1823		chr9	TogoVar
UGCG_chr9_111891814_111940369	111921802	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02083.hp2 NA19090.hp1 HG01358.hp1 HG02083.hp2 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0022 a0001c0002t0002 a0001c0002t0022	a0001c0002t0002g0049 a0001c0002t0002g0061 a0001c0002t0022g0276 a0001c0002t0002g0049 a0001c0002t0002g0061 a0001c0002t0022g0276	3	424	0.0071	25	c.241 others(42): Show c.241-1045_241-1021dupTTTTTTTTTTTTTTTTTTTTTTTTT	UGCG	ENSG00000148154.10	transcript	ENST00000374279.4	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
UGGT2_chr13_95796580_96058401	95924393	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0331 a0003c0003t0004g0331	1	332	0.0030	25	c.229 others(44): Show c.2295+1262_2295+1286dupAAAAAAAAAAAAAAAAAAAAAAAAA	UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding	20/38			chr13	TogoVar
UGGT2_chr13_95796580_96058401	96054210	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG03453.hp1 HG03834.hp1 others(1): Show HG02818.hp2 HG03453.hp1 HG03834.hp1 NA18957.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0006	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0006t0001	a0001c0001t0001g0040 a0002c0002t0001g0010 a0003c0003t0001g0259 others(1): Show a0001c0001t0001g0040 a0002c0002t0001g0010 a0003c0003t0001g0259 a0004c0006t0001g0167	4	332	0.0121	25	c.-89 others(34): Show c.-899_-898insTTTTTTTTTTTTTTTTTTTTTTTTT	UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding		810		chr13	TogoVar
UGT1A10_chr2_233631448_233778300	233661623	T T	TTTTCTTT others(18): Show TTTTCTTTCTTTCTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG00738.hp2 others(6): Show HG00140.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01109.hp1 HG01358.hp2 HG01884.hp2 HG03017.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0150 others(6): Show a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0174 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192	9	302	0.0298	25	c.855 others(44): Show c.855+24261_855+24262insTCTTTCTTTCTTTCTTTCTTTCTTT	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233661623	T T	TTTTCTTT others(18): Show TTTTCTTTCTTTCTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG00738.hp2 others(6): Show HG00140.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01109.hp2 HG01358.hp1 HG01884.hp1 HG03017.hp1 HG03834.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0005 a0001c0001 a0001c0007 a0003c0005	a0001c0001t0001 a0001c0007t0001 a0003c0005t0001 a0001c0001t0001 a0001c0007t0001 a0003c0005t0001	a0001c0001t0001g0170 a0001c0001t0001g0182 a0001c0001t0001g0185 others(6): Show a0001c0001t0001g0170 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0271 a0001c0007t0001g0167 a0001c0007t0001g0174 a0003c0005t0001g0002 a0003c0005t0001g0003 a0003c0005t0001g0080	9	290	0.0310	25	c.855 others(44): Show c.855+43076_855+43077insTCTTTCTTTCTTTCTTTCTTTCTTT	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT3A2_chr5_36030021_36071882	36067835	G G	GAGAGAGA others(18): Show GAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	410	0.0024	25	c.-10 others(36): Show c.-1071_-1047dupTCTCTCTCTCTCTCTCTCTCTCTCT	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		954		chr5	TogoVar
UGT8_chr4_114593807_114683225	114597754	G G	GATATATA others(18): Show GATATATATATATATATATGATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	280	0.0036	25	c.-12 others(36): Show c.-1223_-1222insATATATATATATATATATGATATAT	UGT8	ENSG00000174607.11	transcript	ENST00000310836.11	protein_coding		1052		chr4	TogoVar
UHRF1_chr19_4904501_4967154	4938730	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0097 a0001c0024t0001g0097	1	316	0.0032	25	c.786 others(42): Show c.786-2791_786-2767dupTTTTTTTTTTTTTTTTTTTTTTTTT	UHRF1	ENSG00000276043.5	transcript	ENST00000650932.1	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UIMC1_chr5_176900006_177011779	176914069	T T	TACCACAC others(18): Show TACCACACCACACCACACCACACCAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03098.hp1 HG02976.hp2 HG03098.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0325 a0003c0004t0003g0326 a0003c0004t0003g0325 a0003c0004t0003g0326	2	330	0.0061	25	c.159 others(44): Show c.1598-2681_1598-2680insGTGGTGTGGTGTGGTGTGGTGTGGT	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	10/14			chr5	TogoVar
UIMC1_chr5_176900006_177011779	176914069	T T	TACCATAC others(18): Show TACCATACCATACCACACCACACCAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0023 a0003c0004t0001g0023	1	330	0.0030	25	c.159 others(44): Show c.1598-2681_1598-2680insGTGGTGTGGTGTGGTATGGTATGGT	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	10/14			chr5	TogoVar
UIMC1_chr5_176900006_177011779	176914069	T T	TACCATAC others(18): Show TACCATACCATACCATACCATACCAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	330	0.0030	25	c.159 others(44): Show c.1598-2681_1598-2680insGTGGTATGGTATGGTATGGTATGGT	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	10/14			chr5	TogoVar
ULK2_chr17_19765830_19872936	19814438	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0050 a0001c0004t0012g0050	1	288	0.0035	25	c.109 others(44): Show c.1096+2310_1096+2311insAAAAAAAAATATATATATATATATA	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	13/26			chr17	TogoVar
ULK4_chr3_41241599_41967103	41311960	A A	ATTTATTT others(18): Show ATTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03209.hp2 HG02970.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0049 a0001c0001t0003g0069 a0001c0001t0001g0049 a0001c0001t0003g0069	2	72	0.0278	25	c.367 others(46): Show c.3679-62411_3679-62387dupATAAAATAAAATAAAATAAAATAA A	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41412553	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	72	0.0139	25	c.349 others(46): Show c.3493-14314_3493-14290dupAAAAAAAAAAAAAAAAAAAAAAAA A	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	34/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41431547	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01109.hp1 HG01106.hp1 HG01109.hp1	a0001 a0021 a0001 a0021	a0001c0001 a0021c0024 a0001c0001 a0021c0024	a0001c0001t0001 a0021c0024t0001 a0001c0001t0001 a0021c0024t0001	a0001c0001t0001g0036 a0021c0024t0001g0027 a0001c0001t0001g0036 a0021c0024t0001g0027	2	72	0.0278	25	c.349 others(46): Show c.3492+23949_3492+23950insAAAAAAAAAAAAAAAAAAAAAAAA A	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	34/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41469602	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	72	0.0139	25	c.322 others(44): Show c.3227-6374_3227-6350dupTTTTTTTTTTTTTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41506767	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03540.hp2 HG01243.hp1 HG03540.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0003 a0003c0002t0005 a0001c0001t0003 a0003c0002t0005	a0001c0001t0003g0070 a0003c0002t0005g0067 a0001c0001t0003g0070 a0003c0002t0005g0067	2	72	0.0278	25	c.322 others(46): Show c.3227-43515_3227-43514insATTTATATATATATTTTTTTTTTT T	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41506767	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0015 a0004c0004t0002g0015	1	72	0.0139	25	c.322 others(46): Show c.3227-43515_3227-43514insATTTATATATATATATTTTTTTTT T	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41602251	A A	AAAAGGAA others(18): Show AAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0009 a0003c0002t0002g0009	1	72	0.0139	25	c.312 others(46): Show c.3120+13393_3120+13417dupCCTTTCCTTTCCTTTCCTTTCCTT T	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	31/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41657818	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0065 a0006c0005t0001g0065	1	72	0.0139	25	c.307 others(44): Show c.3071+5788_3071+5789insTTTTTTTTTTTTTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	30/36			chr3	TogoVar
UMAD1_chr7_7635752_7884223	7678938	T T	TATATTTA others(18): Show TATATTTATATATTTAGTTTATAAAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG04199.hp2 HG02698.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0025 a0001c0001t0010 a0001c0001t0025	a0001c0001t0010g0097 a0001c0001t0025g0095 a0001c0001t0010g0097 a0001c0001t0025g0095	2	250	0.0080	25	c.82+ others(40): Show c.82+5490_82+5514dupTTATATATTTAGTTTATAAACATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7767128	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0098 a0001c0001t0009g0098	1	250	0.0040	25	c.83- others(42): Show c.83-34528_83-34527insTTTTTTTTTTTTTTTTTTTTTTTTT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7796244	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0225 a0001c0001t0036g0225	1	250	0.0040	25	c.83- others(40): Show c.83-5402_83-5401insTTTTTTTTTTTTTTTTTTTTTTTTT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMODL1_chr21_42066317_42147996	42095089	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG03130.hp2 others(1): Show HG02258.hp1 HG02559.hp2 HG03130.hp2 HG03225.hp1	a0013 a0037 a0127 a0013 a0037 a0127	a0013c0019 a0037c0172 a0037c0173 others(1): Show a0013c0019 a0037c0172 a0037c0173 a0127c0170	a0013c0019t0006 a0037c0172t0001 a0037c0173t0001 others(1): Show a0013c0019t0006 a0037c0172t0001 a0037c0173t0001 a0127c0170t0030	a0013c0019t0006g0061 a0037c0172t0001g0071 a0037c0173t0001g0269 others(1): Show a0013c0019t0006g0061 a0037c0172t0001g0071 a0037c0173t0001g0269 a0127c0170t0030g0270	4	400	0.0100	25	c.932 others(42): Show c.932-3814_932-3813insTTTTTTTTTTTTTTTTTTTTTTTTT	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UNC13A_chr19_17596336_17693354	17670907	G G	GTAAAATA others(18): Show GTAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01884.hp2 HG02559.hp1 others(6): Show HG01361.hp1 HG01884.hp2 HG02559.hp1 HG02559.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0011 others(2): Show a0001c0002 a0001c0008 a0001c0011 a0001c0032 a0001c0070	a0001c0002t0011 a0001c0002t0027 a0001c0008t0002 others(3): Show a0001c0002t0011 a0001c0002t0027 a0001c0008t0002 a0001c0011t0001 a0001c0032t0008 a0001c0070t0001	a0001c0002t0011g0039 a0001c0002t0027g0287 a0001c0008t0002g0274 others(6): Show a0001c0002t0011g0039 a0001c0002t0027g0287 a0001c0008t0002g0274 a0001c0008t0002g0276 a0001c0008t0002g0277 a0001c0011t0001g0089 a0001c0011t0001g0299 a0001c0032t0008g0163 a0001c0070t0001g0312	9	320	0.0281	25	c.271 others(42): Show c.271-1256_271-1232dupTTTTATTTTATTTTATTTTATTTTA	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	4/43			chr19	TogoVar

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Search Results (Total: 8644 hits)