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
CCR9_chr3_45881543_45908174	45890352	T T	TATATATA others(26): Show TATATATATTTATATAAATATATATATATATAAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02015.hp1 others(50): Show HG01256.hp2 HG01258.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02630.hp2 HG02683.hp1 HG02922.hp1 HG03017.hp1 HG03130.hp2 HG03139.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG04204.hp2 NA18747.hp1 NA18939.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18962.hp1 NA18975.hp1 NA18977.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19001.hp2 NA19004.hp2 NA19009.hp2 NA19030.hp1 NA19055.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19068.hp2 NA19075.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0011 a0006c0010 a0001c0001 a0001c0011 a0006c0010	a0001c0001t0001 a0001c0001t0011 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0015 a0001c0011t0001 a0006c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0040 others(17): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0011g0003 a0001c0001t0015g0041 a0001c0011t0001g0043 a0006c0010t0001g0043	53	424	0.1250	33	c.-29 others(50): Show c.-29+3705_-29+3706insTTATATAAATATATATATATATAACATA TATAT	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCSAP_chr1_229316015_229348047	229337678	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0050 a0001c0001t0018g0050	1	436	0.0023	33	c.367 others(50): Show c.367+4420_367+4421insATATATATATATATATATATATTTTTTT TTTTT	CCSAP	ENSG00000154429.11	transcript	ENST00000284617.7	protein_coding	2/3			chr1	TogoVar
CCSER1_chr4_90122394_91610295	90391457	T T	TATATATA others(26): Show TATATATATATATATATACACACACAGTGGGTAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	38	0.0263	33	c.151 others(52): Show c.1510-8562_1510-8561insCACACACAGTGGGTAAATATATATAT ATATATA	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90460324	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0010 a0003c0005t0010	a0003c0005t0010g0004 a0003c0005t0010g0004	1	38	0.0263	33	c.160 others(52): Show c.1604-7889_1604-7888insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90648284	G G	GGAAAGAA others(26): Show GGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02258.hp2 HG01243.hp1 HG02109.hp1 HG02258.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0002 a0001c0001t0003 a0005c0007t0012 a0001c0001t0002 a0001c0001t0003 a0005c0007t0012	a0001c0001t0002g0027 a0001c0001t0003g0034 a0005c0007t0012g0010 a0001c0001t0002g0027 a0001c0001t0003g0034 a0005c0007t0012g0010	3	38	0.0790	33	c.193 others(54): Show c.1932+20073_1932+20074insGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	91288057	T T	TTAGGATA others(26): Show TTAGGATATATATATATATACACTCATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01243.hp1 HG01243.hp2 others(15): Show HG01099.hp1 HG01243.hp1 HG01243.hp2 HG01884.hp2 HG02109.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02897.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03516.hp1 NA18906.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0008 others(5): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0003c0005 a0004c0004 a0005c0007 a0006c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0020 a0001c0003t0002 a0001c0008t0019 a0002c0002t0003 a0002c0002t0017 a0002c0002t0018 a0003c0005t0005 a0004c0004t0001 a0005c0007t0012 a0006c0006t0016	a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0003g0012 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0003g0012 a0001c0001t0004g0022 a0001c0001t0005g0017 a0001c0001t0006g0023 a0001c0001t0014g0028 a0001c0001t0020g0033 a0001c0003t0002g0015 a0001c0003t0002g0026 a0001c0008t0019g0029 a0002c0002t0003g0013 a0002c0002t0017g0008 a0002c0002t0018g0009 a0003c0005t0005g0011 a0004c0004t0001g0021 a0005c0007t0012g0010 a0006c0006t0016g0020	18	38	0.4737	33	c.221 others(56): Show c.2217+202079_2217+202111dupTATACACTCATATATATATAGG ATATATATATA	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCT3_chr1_156303968_156343292	156304345	G G	GCCCCCCC others(26): Show GCCCCCCCCCGCCCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	392	0.0026	33	c.48 others(44): Show c.4853_*4854insGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGG	CCT3	ENSG00000163468.15	transcript	ENST00000295688.8	protein_coding		4622		chr1	TogoVar
CCZ1B_chr7_6793937_6831275	6825661	A A	ACACACAC others(26): Show ACACACACACACACACACACACACACCACACACC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0034 a0003c0004t0006g0034	1	354	0.0028	33	c.120 others(48): Show c.120+416_120+417insGGTGTGTGGTGTGTGTGTGTGTGTGTGTGT GTG	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding	1/14			chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6830739	C C	CACCACAC others(26): Show CACCACACACATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0165 a0002c0003t0003g0165	1	354	0.0028	33	c.-45 others(44): Show c.-4543_-4542insATATATATATATATATATATATATGTGTGTGGT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		4465		chr7	TogoVar
CCZ1_chr7_5893733_5931550	5920470	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	114	0.0088	33	c.110 others(50): Show c.1106+521_1106+522insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CCZ1	ENSG00000122674.12	transcript	ENST00000325974.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CD101_chr1_116996760_117041552	117028102	T T	TAAATAAA others(26): Show TAAATAAATAAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0005 a0001c0031t0005	a0001c0031t0005g0250 a0001c0031t0005g0250	1	426	0.0024	33	c.282 others(52): Show c.2824+2205_2824+2206insTAAATAAATAAATAAATAAATAAATA AAATAAA	CD101	ENSG00000134256.13	transcript	ENST00000682167.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CD200_chr3_112328156_112367812	112332261	G G	GAGGAGAA others(26): Show GAGGAGAAGGAGAAGGAGGAGAAGGAGAAGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0141 a0003c0004t0001g0141	1	408	0.0025	33	c.-95 others(42): Show c.-952_-951insAGGAGAAGGAGAAGGAGGAGAAGGAGAAGGAGA	CD200	ENSG00000091972.18	transcript	ENST00000315711.12	protein_coding		894		chr3	TogoVar
CD247_chr1_167425640_167523529	167521735	A A	AGTTCTTC others(26): Show AGTTCTTCAAAATTATGCTTTTTTTTTTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	374	0.0027	33	c.-32 others(44): Show c.-3271_-3270insAAAGAAAAAAAAAAAAGCATAATTTTGAAGAAC	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding		3207		chr1	TogoVar
CD2AP_chr6_47472789_47632263	47610971	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0300 a0001c0001t0022g0300	1	322	0.0031	33	c.181 others(52): Show c.1815-1501_1815-1500insATATATATATATATATATATATATAT ATATATT	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD300LF_chr17_74689317_74717923	74716933	A A	AGACCAGC others(26): Show AGACCAGCCTGACCAACATGGTGAAACCCTGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	428	0.0023	33	c.-41 others(44): Show c.-4100_-4068dupAGACAGGGTTTCACCATGTTGGTCAGGCTGGTC	CD300LF	ENSG00000186074.19	transcript	ENST00000326165.11	protein_coding		4011		chr17	TogoVar
CD40LG_chrX_136643158_136665390	136663376	A A	ATATATAT others(26): Show ATATATATATATTATATATATATATTATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG02615.hp2 others(2): Show HG01081.hp1 HG01081.hp2 HG02615.hp2 HG03239.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0022 a0001c0001t0031 others(2): Show a0001c0001t0013 a0001c0001t0022 a0001c0001t0031 a0001c0001t0034 a0001c0002t0013	a0001c0001t0013g0052 a0001c0001t0022g0001 a0001c0001t0031g0001 others(2): Show a0001c0001t0013g0052 a0001c0001t0022g0001 a0001c0001t0031g0001 a0001c0001t0034g0013 a0001c0002t0013g0054	5	287	0.0174	33	c.39 others(44): Show c.3961_*3962insTATATATATATTATATATATATATTATATATAT	CD40LG	ENSG00000102245.9	transcript	ENST00000370629.7	protein_coding		2987		chrX	TogoVar
CD46_chr1_207747054_207800504	207779913	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	380	0.0026	33	c.944 others(50): Show c.944-3360_944-3359insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CD46	ENSG00000117335.21	transcript	ENST00000367042.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
CD83_chr6_14112772_14141906	14140508	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02071.hp1 HG01255.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0014 a0001c0001t0003g0002 a0001c0001t0001g0014 a0001c0001t0003g0002	2	438	0.0046	33	c.52 others(44): Show c.5272_*5273insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CD83	ENSG00000112149.10	transcript	ENST00000379153.4	protein_coding		3603		chr6	TogoVar
CD8B_chr2_86833167_86866886	86848701	A A	ATTAATTA others(26): Show ATTAATTATTTATTTATTTATTTAATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp1 HG02055.hp1 HG02965.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0198 a0002c0003t0003g0199 a0002c0003t0003g0198 a0002c0003t0003g0199	2	392	0.0051	33	c.494 others(50): Show c.494-1929_494-1928insATAAATAAATTAAATAAATAAATAAATA ATTAA	CD8B	ENSG00000172116.23	transcript	ENST00000390655.12	protein_coding	3/5			chr2	TogoVar
CDADC1_chr13_49242925_49298485	49269240	A A	AACTTTTA others(26): Show AACTTTTATAAAAAGTACAGATGCTATACTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0046 a0001c0001t0007g0046	1	368	0.0027	33	c.100 others(52): Show c.1000+1266_1000+1298dupGATGCTATACTTTTTACTTTTATAAA AAGTACA	CDADC1	ENSG00000102543.14	transcript	ENST00000251108.10	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDADC1_chr13_49242925_49298485	49293883	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01243.hp2 HG01978.hp2 others(3): Show HG00323.hp2 HG01243.hp2 HG01978.hp2 HG03453.hp1 HG04115.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010	a0001c0001t0003g0225 a0001c0001t0005g0060 a0001c0001t0005g0194 others(3): Show a0001c0001t0003g0225 a0001c0001t0005g0060 a0001c0001t0005g0194 a0001c0001t0005g0203 a0001c0001t0005g0205 a0001c0001t0010g0344	6	368	0.0163	33	c.21 others(44): Show c.2126_*2127insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CDADC1	ENSG00000102543.14	transcript	ENST00000251108.10	protein_coding		399		chr13	TogoVar
CDC14A_chr1_100347506_100525277	100412728	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0010 a0003c0009t0010	a0003c0009t0010g0067 a0003c0009t0010g0067	1	306	0.0033	33	c.310 others(52): Show c.310-11484_310-11483insATATATATATATATATATATAAAATA TATATAT	CDC14A	ENSG00000079335.20	transcript	ENST00000336454.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC20B_chr5_55107971_55178177	55126466	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03942.hp1 NA18977.hp2 others(1): Show HG01952.hp2 HG03942.hp1 NA18977.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0017 a0002c0002t0002 a0002c0002t0017	a0002c0002t0002g0175 a0002c0002t0002g0180 a0002c0002t0002g0181 others(1): Show a0002c0002t0002g0175 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0017g0196	4	330	0.0121	33	c.989 others(48): Show c.989+790_989+791insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CDC20B	ENSG00000164287.13	transcript	ENST00000381375.7	protein_coding	8/11			chr5	TogoVar
CDC37_chr19_10386133_10408542	10393554	T T	TATTCCTG others(26): Show TATTCCTGACCTACATGAAGGGCTCCCCAAGGCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	388	0.0026	33	c.727 others(48): Show c.727-146_727-114dupGGCCTTGGGGAGCCCTTCATGTAGGTCAGG AAT	CDC37	ENSG00000105401.9	transcript	ENST00000222005.7	protein_coding	5/7			chr19	TogoVar
CDC37_chr19_10386133_10408542	10399931	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0199 a0003c0005t0001g0199	1	388	0.0026	33	c.102 others(50): Show c.102+3446_102+3447insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CDC37	ENSG00000105401.9	transcript	ENST00000222005.7	protein_coding	1/7			chr19	TogoVar
CDC42BPA_chr1_226984865_227323492	227148772	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0026 a0007c0013t0026	a0007c0013t0026g0318 a0007c0013t0026g0318	1	352	0.0028	33	c.694 others(50): Show c.694-1214_694-1213insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	6/36			chr1	TogoVar
CDC42_chr1_22047709_22106360	22094294	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0152 a0001c0001t0152	a0001c0001t0152g0337 a0001c0001t0152g0337	1	352	0.0028	33	c.27 others(44): Show c.2798_*2799insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	6/6	2799	INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC6_chr17_40282879_40309657	40299138	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0081 a0002c0002t0002g0081	1	330	0.0030	33	c.125 others(52): Show c.1250-1662_1250-1661insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	CDC6	ENSG00000094804.12	transcript	ENST00000209728.9	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDC73_chr1_193117031_193259815	193162213	T T	TTATATAT others(26): Show TTATATATCATCTATTATATTGTATATAATATAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	274	0.0037	33	c.972 others(50): Show c.972+9776_972+9777insCATCTATTATATTGTATATAATATAATA TATAT	CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC73_chr1_193117031_193259815	193162238	A A	ATAATATA others(26): Show ATAATATAATATATATTATCTATTATATTGTATG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp1 HG01123.hp2 others(57): Show HG00544.hp2 HG00673.hp1 HG01123.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp2 HG01952.hp1 HG01981.hp2 HG02056.hp2 HG02523.hp1 HG02572.hp1 HG02630.hp2 HG02698.hp1 HG02922.hp1 HG02970.hp1 HG03017.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03540.hp2 HG03704.hp2 HG04115.hp1 HG04199.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18950.hp1 NA18953.hp1 NA18957.hp2 NA18959.hp2 NA18965.hp2 NA18971.hp1 NA18972.hp1 NA18980.hp1 NA18986.hp1 NA18990.hp2 NA18994.hp2 NA18999.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011	a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0145 others(57): Show a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0008g0218 a0001c0001t0009g0210 a0001c0001t0010g0190 a0001c0001t0011g0176	60	274	0.2190	33	c.972 others(50): Show c.972+9801_972+9802insATATATATTATCTATTATATTGTATGTA ATATA	CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDH10_chr5_24482100_24649978	24586843	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	290	0.0035	33	c.231 others(50): Show c.231+6416_231+6417insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	CDH10	ENSG00000040731.10	transcript	ENST00000264463.8	protein_coding	2/11			chr5	TogoVar
CDH12_chr5_21745673_22858344	21879317	C C	CATTAAAA others(26): Show CATTAAAAGAAAGAAAAGATAAGAGCCATTCTAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02723.hp1 HG02886.hp2 others(2): Show HG02572.hp2 HG02723.hp1 HG02886.hp2 HG03130.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0009 a0001c0001t0017 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0017 a0002c0003t0001 a0002c0003t0005	a0001c0001t0002g0021 a0001c0001t0009g0024 a0001c0001t0017g0025 others(2): Show a0001c0001t0002g0021 a0001c0001t0009g0024 a0001c0001t0017g0025 a0002c0003t0001g0053 a0002c0003t0005g0017	5	60	0.0833	33	c.527 others(52): Show c.527-24560_527-24528dupATAGAATGGCTCTTATCTTTTCTTTC TTTTAAT	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	6/14			chr5	TogoVar
CDH12_chr5_21745673_22858344	22117479	T T	TATATATA others(26): Show TATATATATAATATGTATATATTATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0022 a0001c0002t0003g0022	1	60	0.0167	33	c.-18 others(54): Show c.-186-38618_-186-38617insTATATATATATAATATATACATAT TATATATAT	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	4/14			chr5	TogoVar
CDH12_chr5_21745673_22858344	22483764	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0007 a0001c0002t0024g0007	1	60	0.0167	33	c.-42 others(54): Show c.-428+21505_-428+21506insATATATATATATATATATATATAT ATATATATA	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	2/14			chr5	TogoVar
CDH12_chr5_21745673_22858344	22489056	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0060 a0002c0003t0005g0060	1	60	0.0167	33	c.-42 others(54): Show c.-428+16213_-428+16214insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	2/14			chr5	TogoVar
CDH13_chr16_82621969_83805640	82746189	G G	GTGTGTGT others(26): Show GTGTGTGTTTATATATAAACACACTGTTTATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0020 a0001c0004t0003g0020	1	110	0.0091	33	c.46- others(52): Show c.46-112171_46-112139dupGTGTGTTTATATATAAACACACTGTT TATATAT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	82746191	G G	GTGTGTTT others(26): Show GTGTGTTTATATATAAACACACTGTTTATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp2 HG01099.hp1 others(4): Show HG00642.hp2 HG01081.hp2 HG01099.hp1 HG02922.hp2 HG03098.hp1 HG03139.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0009	a0001c0001t0005 a0001c0001t0007 a0001c0002t0015 others(3): Show a0001c0001t0005 a0001c0001t0007 a0001c0002t0015 a0001c0006t0029 a0001c0006t0031 a0002c0009t0002	a0001c0001t0005g0054 a0001c0001t0007g0041 a0001c0001t0007g0063 others(4): Show a0001c0001t0005g0054 a0001c0001t0007g0041 a0001c0001t0007g0063 a0001c0002t0015g0039 a0001c0006t0029g0051 a0001c0006t0031g0005 a0002c0009t0002g0050	7	110	0.0636	33	c.46- others(52): Show c.46-112113_46-112081dupTTATATATATGTGTTTATATATAAAC ACACTGT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	83102912	T T	TTTTTTTT others(26): Show TTTTTTTTTCTTTTTCTTTTTTTTTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	110	0.0091	33	c.367 others(52): Show c.367-22465_367-22464insCTTTTTCTTTTTTTTTTTCTTTTTCT TTTTTTT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	83500332	C C	CTTCTTCT others(26): Show CTTCTTCTTTTTTTCTTCTTCTTCTTCTTCTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0064 a0001c0002t0010g0064	1	110	0.0091	33	c.960 others(52): Show c.960+13677_960+13678insTTCTTCTTTTTTTCTTCTTCTTCTTC TTCTTTT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	7/13			chr16	TogoVar
CDH15_chr16_89166748_89200492	89186442	T T	TCACCCAG others(26): Show TCACCCAGCGCACAGTAGGTGCTCTGTAAAGGCC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	406	0.0025	33	c.664 others(48): Show c.664-973_664-972insTAGGTGCTCTGTAAAGGCCCACCCAGCGCA CAG	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH15_chr16_89166748_89200492	89186457	A A	AAGGTGCT others(26): Show AAGGTGCTCTGTAAAGGCCCACCCAGCGCGCAGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	406	0.0025	33	c.664 others(48): Show c.664-944_664-943insGCAGTAGGTGCTCTGTAAAGGCCCACCCAG CGC	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH15_chr16_89166748_89200492	89186570	A A	ACACCCAG others(26): Show ACACCCAGCGCACAGTAGGTGCTCTGTAAACGCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0028 a0003c0028	a0003c0028t0001 a0003c0028t0001	a0003c0028t0001g0054 a0003c0028t0001g0054	1	406	0.0025	33	c.664 others(48): Show c.664-766_664-734dupAAACGCTCACCCAGCGCACAGTAGGTGCTC TGT	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH18_chr5_19466296_19993200	19593707	C C	CCTCCTCC others(26): Show CCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0024 a0001c0004t0003g0024	1	138	0.0073	33	c.812 others(50): Show c.812-2464_812-2463insAAGAAGAAGAAGAAGAAGGAGGAGGAGG AGGAG	CDH18	ENSG00000145526.12	transcript	ENST00000382275.6	protein_coding	6/12			chr5	TogoVar
CDH18_chr5_19466296_19993200	19593707	C C	CCTCCTCC others(26): Show CCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02965.hp1 others(2): Show HG02258.hp1 HG02280.hp1 HG02965.hp1 HG02976.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0009 a0001c0004t0016 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0004t0016 a0001c0004t0017	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0009g0009 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0009g0009 a0001c0004t0016g0023 a0001c0004t0017g0095	5	138	0.0362	33	c.812 others(50): Show c.812-2464_812-2463insAAGAAGAAGAAGAAGAAGAAGGAGGAGG AGGAG	CDH18	ENSG00000145526.12	transcript	ENST00000382275.6	protein_coding	6/12			chr5	TogoVar
CDH18_chr5_19466296_19993200	19593707	C C	CCTCCTTC others(26): Show CCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03017.hp2 HG01943.hp2 HG03017.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0047 a0001c0003t0001g0101 a0001c0003t0001g0047 a0001c0003t0001g0101	2	138	0.0145	33	c.812 others(50): Show c.812-2464_812-2463insAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGGAG	CDH18	ENSG00000145526.12	transcript	ENST00000382275.6	protein_coding	6/12			chr5	TogoVar
CDH19_chr18_66496083_66609090	66594602	A A	ACCCCCCC others(26): Show ACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0012 a0001c0001t0010g0012	1	354	0.0028	33	c.-11 others(52): Show c.-113+9351_-113+9352insGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGG	CDH19	ENSG00000071991.9	transcript	ENST00000262150.7	protein_coding	1/11			chr18	TogoVar
CDH22_chr20_46168739_46313498	46181752	C C	CTTCCTTC others(26): Show CTTCCTTCCTTCCTTCCTTCCTTCTTCTCTTTCT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0273 a0001c0004t0001g0273	1	318	0.0031	33	c.166 others(52): Show c.1664-3556_1664-3555insAGAAAGAGAAGAAGGAAGGAAGGAAG GAAGGAA	CDH22	ENSG00000149654.11	transcript	ENST00000537909.4	protein_coding	10/11			chr20	TogoVar
CDH23_chr10_71391920_71820947	71495831	A A	AGGAAGGA others(26): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03516.hp1 HG02922.hp1 HG03516.hp1	a0068 a0092 a0068 a0092	a0068c0052 a0092c0101 a0068c0052 a0092c0101	a0068c0052t0021 a0092c0101t0001 a0068c0052t0021 a0092c0101t0001	a0068c0052t0021g0041 a0092c0101t0001g0195 a0068c0052t0021g0041 a0092c0101t0001g0195	2	196	0.0102	33	c.146 others(52): Show c.146-14250_146-14249insGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	3/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH24_chr14_23042067_23062520	23061971	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0008 a0007c0011t0008	a0007c0011t0008g0065 a0007c0011t0008g0065	1	414	0.0024	33	c.-46 others(44): Show c.-4694_-4693insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CDH24	ENSG00000139880.21	transcript	ENST00000487137.7	protein_coding		4452		chr14	TogoVar
CDH2_chr18_27945966_28182130	28007165	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0190 a0001c0001t0005g0190	1	268	0.0037	33	c.703 others(50): Show c.703-1173_703-1172insATATATATATATATATATATATATTTTT TTTTT	CDH2	ENSG00000170558.10	transcript	ENST00000269141.8	protein_coding	5/15			chr18	TogoVar

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Search Results (Total: 4928 hits)