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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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	status	chr	external
C17orf80_chr17_73227433_73253959	73235569	G G	GATGATAG others(22): Show GATGATAGGACCAACCATACCTACTGATCA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19072.hp2 NA19072.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0127 a0010c0019t0001g0127	1	384	0.0026	29	c.89_ others(35): Show c.89_117dupTGATAGGACCAACCATACCTACTGATCAA	p.Lys others(4): Show p.Lys40fs	C17orf80	ENSG00000141219.16	transcript	ENST00000535032.7	protein_coding	3/6	288/3618	118/1830	40/609	INFO_REALIGN_3_PRIME	chr17	TogoVar
C18orf63_chr18_74310839_74364189	74353660	C C	T T	stop_gained stop_gained	HIGH	NA18948.hp2 NA18948.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0028 a0008c0015t0028	a0008c0015t0028g0131 a0008c0015t0028g0131	1	372	0.0027	0	c.139 others(4): Show c.1393C>T	p.Gln others(4): Show p.Gln465*	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding	12/14	1696/5103	1393/2058	465/685		chr18	TogoVar
C1QTNF12_chr1_1237453_1251722	1243468	G G	A A	stop_gained stop_gained	HIGH	NA19043.hp1 NA19043.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0001 a0009c0017t0001	a0009c0017t0001g0038 a0009c0017t0001g0038	1	328	0.0031	0	c.616 others(3): Show c.616C>T	p.Gln others(4): Show p.Gln206*	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	5/8	648/1036	616/909	206/302		chr1	TogoVar
C1QTNF9_chr13_24304580_24327531	24318877	C C	T T	stop_gained stop_gained	HIGH	NA18974.hp1 NA18985.hp2 NA18989.hp1 others(2): Show NA18974.hp1 NA18985.hp2 NA18989.hp1 NA19068.hp2 NA19082.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0001 a0008c0009t0001g0035 a0008c0009t0001g0187 a0008c0009t0001g0001 a0008c0009t0001g0035 a0008c0009t0001g0187	5	466	0.0107	0	c.226 others(3): Show c.226C>T	p.Arg others(3): Show p.Arg76*	C1QTNF9	ENSG00000240654.6	transcript	ENST00000332018.5	protein_coding	3/4	285/1824	226/1002	76/333		chr13	TogoVar
C1orf127_chr1_10941475_10987076	10966393	G G	A A	stop_gained stop_gained	HIGH	NA19079.hp2 NA19079.hp2	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0001 a0009c0025t0001	a0009c0025t0001g0281 a0009c0025t0001g0281	1	392	0.0026	0	c.337 others(3): Show c.337C>T	p.Arg others(4): Show p.Arg113*	C1orf127	ENSG00000175262.15	transcript	ENST00000377004.9	protein_coding	4/13	376/2798	337/2472	113/823		chr1	TogoVar
C1orf167_chr1_11757193_11794585	11769006	C C	T T	stop_gained stop_gained	HIGH	HG02615.hp2 HG02615.hp2	a0032 a0032	a0032c0060 a0032c0060	a0032c0060t0003 a0032c0060t0003	a0032c0060t0003g0114 a0032c0060t0003g0114	1	350	0.0029	0	c.157 others(4): Show c.1576C>T	p.Gln others(4): Show p.Gln526*	C1orf167	ENSG00000215910.8	transcript	ENST00000688073.1	protein_coding	6/21	1759/4672	1576/4350	526/1449		chr1	TogoVar
C1orf167_chr1_11757193_11794585	11784232	C C	T T	stop_gained stop_gained	HIGH	NA18951.hp2 NA18951.hp2	a0046 a0046	a0046c0064 a0046c0064	a0046c0064t0001 a0046c0064t0001	a0046c0064t0001g0171 a0046c0064t0001g0171	1	350	0.0029	0	c.306 others(4): Show c.3064C>T	p.Gln others(5): Show p.Gln1022*	C1orf167	ENSG00000215910.8	transcript	ENST00000688073.1	protein_coding	15/21	3247/4672	3064/4350	1022/1449		chr1	TogoVar
C1orf167_chr1_11757193_11794585	11784463	C C	T T	stop_gained stop_gained	HIGH	HG01069.hp1 HG01071.hp1 NA20752.hp2 HG01069.hp1 HG01071.hp1 NA20752.hp2	a0018 a0018	a0018c0020 a0018c0020	a0018c0020t0001 a0018c0020t0001	a0018c0020t0001g0053 a0018c0020t0001g0080 a0018c0020t0001g0081 a0018c0020t0001g0053 a0018c0020t0001g0080 a0018c0020t0001g0081	3	350	0.0086	0	c.329 others(4): Show c.3295C>T	p.Gln others(5): Show p.Gln1099*	C1orf167	ENSG00000215910.8	transcript	ENST00000688073.1	protein_coding	15/21	3478/4672	3295/4350	1099/1449		chr1	TogoVar
C1orf87_chr1_59985394_60078770	59990819	C C	A A	stop_gained stop_gained	HIGH	HG02145.hp1 HG02145.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0006 a0011c0020t0006	a0011c0020t0006g0217 a0011c0020t0006g0217	1	382	0.0026	0	c.149 others(4): Show c.1495G>T	p.Glu others(4): Show p.Glu499*	C1orf87	ENSG00000162598.13	transcript	ENST00000371201.3	protein_coding	12/12	1603/2028	1495/1641	499/546		chr1	TogoVar
C2CD3_chr11_74007718_74176002	74092563	G G	A A	stop_gained stop_gained	HIGH	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0001 a0015c0019t0001	a0015c0019t0001g0022 a0015c0019t0001g0028 a0015c0019t0001g0022 a0015c0019t0001g0028	2	318	0.0063	0	c.337 others(4): Show c.3370C>T	p.Gln others(5): Show p.Gln1124*	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	19/33	3580/7939	3370/7062	1124/2353		chr11	TogoVar
C2CD6_chr2_201482421_201624178	201487740	G G	A A	stop_gained stop_gained	HIGH	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0121 a0011c0012t0001g0122 a0011c0012t0001g0121 a0011c0012t0001g0122	2	270	0.0074	0	c.533 others(4): Show c.5335C>T	p.Arg others(5): Show p.Arg1779*	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	16/16	5383/5702	5335/5463	1779/1820		chr2	TogoVar
C2CD6_chr2_201482421_201624178	201492412	G G	T T	stop_gained stop_gained	HIGH	NA18941.hp2 NA18941.hp2	a0023 a0023	a0023c0022 a0023c0022	a0023c0022t0001 a0023c0022t0001	a0023c0022t0001g0106 a0023c0022t0001g0106	1	270	0.0037	0	c.392 others(4): Show c.3929C>A	p.Ser others(5): Show p.Ser1310*	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	15/16	3977/5702	3929/5463	1310/1820		chr2	TogoVar
C2orf16_chr2_27532386_27587722	27580001	T T	A A	stop_gained stop_gained	HIGH	NA18970.hp1 NA18970.hp1	a0033 a0033	a0033c0047 a0033c0047	a0033c0047t0001 a0033c0047t0001	a0033c0047t0001g0152 a0033c0047t0001g0152	1	326	0.0031	0	c.136 others(5): Show c.13641T>A	p.Tyr others(5): Show p.Tyr4547*	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	5/5	13682/16403	13641/16167	4547/5388		chr2	TogoVar
C2orf69_chr2_199906293_199933273	199911443	G G	A A	stop_gained stop_gained	HIGH	HG01168.hp2 HG01168.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0043 a0005c0006t0001g0043	1	412	0.0024	0	c.5G> others(1): Show c.5G>A	p.Trp others(2): Show p.Trp2*	C2orf69	ENSG00000178074.6	transcript	ENST00000319974.6	protein_coding	1/2	151/3691	5/1158	2/385		chr2	TogoVar
C2orf80_chr2_208160347_208195030	208182998	G G	T T	stop_gained stop_gained	HIGH	NA18939.hp2 NA19056.hp1 NA18939.hp2 NA19056.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0068 a0004c0005t0002g0069 a0004c0005t0002g0068 a0004c0005t0002g0069	2	342	0.0059	0	c.173 others(3): Show c.173C>A	p.Ser others(3): Show p.Ser58*	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	4/9	326/1195	173/582	58/193		chr2	TogoVar
C2orf81_chr2_74409177_74426619	74415340	G G	T T	stop_gained stop_gained	HIGH	NA19081.hp2 NA19081.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0083 a0005c0007t0001g0083	1	402	0.0025	0	c.837 others(3): Show c.837C>A	p.Tyr others(4): Show p.Tyr279*	C2orf81	ENSG00000284308.2	transcript	ENST00000684111.1	protein_coding	3/3	896/2059	837/1848	279/615		chr2	TogoVar
C3orf20_chr3_14670141_14778036	14704392	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp1	a0016 a0016	a0016c0031 a0016c0031	a0016c0031t0001 a0016c0031t0001	a0016c0031t0001g0361 a0016c0031t0001g0361	1	380	0.0026	0	c.934 others(3): Show c.934C>T	p.Arg others(4): Show p.Arg312*	C3orf20	ENSG00000131379.10	transcript	ENST00000253697.8	protein_coding	7/17	1344/3286	934/2715	312/904		chr3	TogoVar
C3orf49_chr3_63814299_63853636	63819538	C C	T T	stop_gained stop_gained	HIGH	HG02055.hp2 HG02809.hp1 HG02965.hp1 others(5): Show HG02055.hp2 HG02809.hp1 HG02965.hp1 HG02976.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0009 a0004c0004t0001g0053 a0004c0004t0001g0054 a0004c0004t0001g0009 a0004c0004t0001g0053 a0004c0004t0001g0054	8	388	0.0206	0	c.67C others(2): Show c.67C>T	p.Arg others(3): Show p.Arg23*	C3orf49	ENSG00000163632.15	transcript	ENST00000295896.13	protein_coding	1/7	240/1355	67/879	23/292		chr3	TogoVar
C3orf49_chr3_63814299_63853636	63827648	C C	T T	stop_gained stop_gained	HIGH	NA19001.hp1 NA19001.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0002 a0006c0006t0001g0002	1	388	0.0026	0	c.493 others(3): Show c.493C>T	p.Gln others(4): Show p.Gln165*	C3orf49	ENSG00000163632.15	transcript	ENST00000295896.13	protein_coding	3/7	666/1355	493/879	165/292		chr3	TogoVar
C4orf33_chr4_129091152_129121637	129109608	C C	T T	stop_gained stop_gained	HIGH	HG02055.hp1 HG02451.hp2 HG02559.hp1 others(6): Show HG02055.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02647.hp1 HG03471.hp2 NA18906.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0022 a0005c0005t0030 others(2): Show a0005c0005t0004 a0005c0005t0022 a0005c0005t0030 a0005c0005t0031 a0005c0005t0032	a0005c0005t0004g0004 a0005c0005t0004g0101 a0005c0005t0004g0107 others(4): Show a0005c0005t0004g0004 a0005c0005t0004g0101 a0005c0005t0004g0107 a0005c0005t0022g0004 a0005c0005t0030g0004 a0005c0005t0031g0004 a0005c0005t0032g0004	9	396	0.0227	0	c.430 others(3): Show c.430C>T	p.Arg others(4): Show p.Arg144*	C4orf33	ENSG00000151470.13	transcript	ENST00000425929.6	protein_coding	5/6	497/5513	430/600	144/199		chr4	TogoVar
C4orf54_chr4_99631529_99662828	99653733	C C	A A	stop_gained stop_gained	HIGH	HG00642.hp1 HG00642.hp1	a0026 a0026	a0026c0043 a0026c0043	a0026c0043t0001 a0026c0043t0001	a0026c0043t0001g0184 a0026c0043t0001g0184	1	392	0.0026	0	c.916 others(3): Show c.916G>T	p.Glu others(4): Show p.Glu306*	C4orf54	ENSG00000248713.2	transcript	ENST00000511828.2	protein_coding	2/3	1281/10451	916/5382	306/1793		chr4	TogoVar
C7_chr5_40904497_40989643	40955497	C C	T T	stop_gained stop_gained	HIGH	HG01261.hp2 HG01261.hp2	a0019 a0019	a0019c0019 a0019c0019	a0019c0019t0002 a0019c0019t0002	a0019c0019t0002g0095 a0019c0019t0002g0095	1	380	0.0026	0	c.120 others(4): Show c.1204C>T	p.Arg others(4): Show p.Arg402*	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	10/18	1318/5716	1204/2532	402/843		chr5	TogoVar
C7orf31_chr7_25129692_25185354	25136736	G G	A A	stop_gained stop_gained	HIGH	HG02976.hp1 HG02976.hp1	a0020 a0020	a0020c0033 a0020c0033	a0020c0033t0002 a0020c0033t0002	a0020c0033t0002g0083 a0020c0033t0002g0083	1	416	0.0024	0	c.100 others(4): Show c.1009C>T	p.Arg others(4): Show p.Arg337*	C7orf31	ENSG00000153790.12	transcript	ENST00000283905.8	protein_coding	10/10	1726/3770	1009/1773	337/590		chr7	TogoVar
C8orf34_chr8_68325955_68824023	68331151	C C	T T	stop_gained stop_gained	HIGH	HG03195.hp2 NA20300.hp1 HG03195.hp2 NA20300.hp1	a0004 a0004	a0004c0017 a0004c0018 a0004c0017 a0004c0018	a0004c0017t0006 a0004c0018t0007 a0004c0017t0006 a0004c0018t0007	a0004c0017t0006g0128 a0004c0018t0007g0126 a0004c0017t0006g0128 a0004c0018t0007g0126	2	128	0.0156	0	c.139 others(3): Show c.139C>T	p.Gln others(3): Show p.Gln47*	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	1/14	197/2452	139/1617	47/538		chr8	TogoVar
C8orf48_chr8_13561869_13573288	13567295	C C	T T	stop_gained stop_gained	HIGH	HG02280.hp2 HG02280.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0011 a0011c0015t0011	a0011c0015t0011g0000 a0011c0015t0011g0000	1	452	0.0022	0	c.304 others(3): Show c.304C>T	p.Gln others(4): Show p.Gln102*	C8orf48	ENSG00000164743.5	transcript	ENST00000297324.5	protein_coding	1/1	427/1420	304/960	102/319		chr8	TogoVar
C9_chr5_39279140_39369495	39331711	G G	A A	stop_gained stop_gained	HIGH	HG02258.hp2 HG02258.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0002 a0010c0017t0002	a0010c0017t0002g0229 a0010c0017t0002g0229	1	394	0.0025	0	c.580 others(3): Show c.580C>T	p.Arg others(4): Show p.Arg194*	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	5/11	611/2770	580/1680	194/559		chr5	TogoVar
C9_chr5_39279140_39369495	39341276	G G	A A	stop_gained stop_gained	HIGH	HG02056.hp2 NA18966.hp2 NA18968.hp2 others(1): Show HG02056.hp2 NA18966.hp2 NA18968.hp2 NA18993.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0013 a0005c0007t0001g0158 a0005c0007t0001g0232 a0005c0007t0001g0013 a0005c0007t0001g0158 a0005c0007t0001g0232	4	394	0.0102	0	c.346 others(3): Show c.346C>T	p.Arg others(4): Show p.Arg116*	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	4/11	377/2770	346/1680	116/559		chr5	TogoVar
C9orf131_chr9_35037240_35050986	35045696	C C	T T	stop_gained stop_gained	HIGH	HG00544.hp1 HG00544.hp1	a0019 a0019	a0019c0017 a0019c0017	a0019c0017t0001 a0019c0017t0001	a0019c0017t0001g0001 a0019c0017t0001g0001	1	428	0.0023	0	c.306 others(4): Show c.3067C>T	p.Arg others(5): Show p.Arg1023*	C9orf131	ENSG00000174038.13	transcript	ENST00000312292.6	protein_coding	2/2	3082/3372	3067/3240	1023/1079		chr9	TogoVar
CA14_chr1_150252774_150270078	150263368	C C	T T	stop_gained stop_gained	HIGH	HG02698.hp1 HG02698.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0003 a0003c0011t0001g0003	1	416	0.0024	0	c.790 others(3): Show c.790C>T	p.Arg others(4): Show p.Arg264*	CA14	ENSG00000118298.12	transcript	ENST00000369111.9	protein_coding	8/11	1145/1788	790/1014	264/337		chr1	TogoVar
CAAP1_chr9_26835685_26897802	26842378	C C	A A	stop_gained stop_gained	HIGH	HG04199.hp2 HG04199.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0139 a0006c0009t0001g0139	1	372	0.0027	0	c.100 others(4): Show c.1009G>T	p.Glu others(4): Show p.Glu337*	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	6/6	1096/2789	1009/1086	337/361		chr9	TogoVar
CAAP1_chr9_26835685_26897802	26842384	G G	A A	stop_gained stop_gained	HIGH	HG04199.hp2 HG04199.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0139 a0006c0009t0001g0139	1	372	0.0027	0	c.100 others(4): Show c.1003C>T	p.Gln others(4): Show p.Gln335*	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	6/6	1090/2789	1003/1086	335/361		chr9	TogoVar
CAAP1_chr9_26835685_26897802	26842459	C C	A A	stop_gained stop_gained	HIGH	HG04199.hp2 HG04199.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0139 a0006c0009t0001g0139	1	372	0.0027	0	c.928 others(3): Show c.928G>T	p.Glu others(4): Show p.Glu310*	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	6/6	1015/2789	928/1086	310/361		chr9	TogoVar
CACNA1A_chr19_13201442_13511479	13308417	T T	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG02647.hp1 HG02647.hp1	a0023 a0023	a0023c0113 a0023c0113	a0023c0113t0013 a0023c0113t0013	a0023c0113t0013g0096 a0023c0113t0013g0096	1	218	0.0046	0	c.178 others(4): Show c.1780A>T	p.Lys others(4): Show p.Lys594*	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	13/47	2035/8647	1780/7521	594/2506		chr19	TogoVar
CACNB2_chr10_18135424_18548557	18533990	C C	CTCACCTT others(84): Show CTCACCTTTCTGTTGAAGAAACAGTATACCATTTTACTTTATCTTAAAAA TACTGCACTTTAACTGAATTGTTTCGCCCTTTACAGCGGAAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0039 a0001c0001t0007g0039	1	200	0.0050	91	c.105 others(103): Show c.1055-84_1061dupCACCTTTCTGTTGAAGAAACAGTATACCATTTT ACTTTATCTTAAAAATACTGCACTTTAACTGAATTGTTTCGCCCTTTACA GCGGAAGT	p.Gln others(5): Show p.Gln355fs	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	11/14	1375/6129	1062/1983	354/660	INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18533990	C C	CTCACCTT others(84): Show CTCACCTTTCTGTTGAAGAAACAGTATACCATTTTACTTTATCTTAAAAA TACTGCACTTTAACTGAATTGTTTCGCCCTTTACAGCGGAAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0026 a0001c0001t0010g0026	1	302	0.0033	91	c.893 others(101): Show c.893-84_899dupCACCTTTCTGTTGAAGAAACAGTATACCATTTTAC TTTATCTTAAAAATACTGCACTTTAACTGAATTGTTTCGCCCTTTACAGC GGAAGT	p.Gln others(5): Show p.Gln301fs	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	10/13	1118/5872	900/1821	300/606	INFO_REALIGN_3_PRIME	chr10	TogoVar
CALHM2_chr10_103441786_103457370	103447218	C C	T T	stop_gained stop_gained	HIGH	NA20905.hp2 NA20905.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0071 a0005c0007t0002g0071	1	458	0.0022	0	c.906 others(3): Show c.906G>A	p.Trp others(4): Show p.Trp302*	CALHM2	ENSG00000138172.11	transcript	ENST00000260743.10	protein_coding	4/4	1482/1914	906/972	302/323		chr10	TogoVar
CALHM6_chr6_116456375_116468771	116462154	G G	A A	stop_gained stop_gained	HIGH	NA18945.hp2 NA18975.hp2 NA19005.hp2 others(1): Show NA18945.hp2 NA18975.hp2 NA19005.hp2 NA19070.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0001 a0009c0009t0001g0001	4	440	0.0091	0	c.225 others(3): Show c.225G>A	p.Trp others(3): Show p.Trp75*	CALHM6	ENSG00000188820.13	transcript	ENST00000368605.3	protein_coding	2/3	338/1127	225/948	75/315		chr6	TogoVar
CAMK2A_chr5_150214491_150294773	150273110	C C	A A	stop_gained stop_gained	HIGH	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0012 a0002c0007t0012	a0002c0007t0012g0235 a0002c0007t0012g0235	1	338	0.0030	0	c.112 others(3): Show c.112G>T	p.Glu others(3): Show p.Glu38*	CAMK2A	ENSG00000070808.17	transcript	ENST00000671881.1	protein_coding	2/19	260/4837	112/1470	38/489		chr5	TogoVar
CAND1_chr12_67264358_67324953	67292641	A A	T T	stop_gained stop_gained	HIGH	NA18940.hp1 NA18940.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0182 a0002c0006t0003g0182	1	328	0.0031	0	c.232 others(3): Show c.232A>T	p.Lys others(3): Show p.Lys78*	CAND1	ENSG00000111530.13	transcript	ENST00000545606.6	protein_coding	3/15	592/11176	232/3693	78/1230		chr12	TogoVar
CAPN11_chr6_44153820_44189401	44169963	C C	T T	stop_gained stop_gained	HIGH	HG02280.hp2 HG02559.hp1 HG03486.hp2 others(1): Show HG02280.hp2 HG02559.hp1 HG03486.hp2 NA19043.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0002 a0010c0012t0002	a0010c0012t0002g0012 a0010c0012t0002g0283 a0010c0012t0002g0284 a0010c0012t0002g0012 a0010c0012t0002g0283 a0010c0012t0002g0284	4	460	0.0087	0	c.397 others(3): Show c.397C>T	p.Gln others(4): Show p.Gln133*	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	4/23	426/2718	397/2220	133/739		chr6	TogoVar
CAPN12_chr19_38725192_38749474	38735396	G G	A A	stop_gained stop_gained	HIGH	HG03579.hp1 HG03579.hp1	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0001 a0018c0023t0001	a0018c0023t0001g0240 a0018c0023t0001g0240	1	342	0.0029	0	c.166 others(4): Show c.1660C>T	p.Gln others(4): Show p.Gln554*	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	14/21	1969/3129	1660/2160	554/719		chr19	TogoVar
CAPN9_chr1_230742388_230806989	230759556	C C	T T	stop_gained stop_gained	HIGH	HG00673.hp2 HG00673.hp2	a0014 a0014	a0014c0034 a0014c0034	a0014c0034t0001 a0014c0034t0001	a0014c0034t0001g0245 a0014c0034t0001g0245	1	394	0.0025	0	c.328 others(3): Show c.328C>T	p.Gln others(4): Show p.Gln110*	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	3/20	437/2575	328/2073	110/690		chr1	TogoVar
CAPRIN2_chr12_30704553_30759951	30735018	G G	T T	stop_gained stop_gained	HIGH	NA19006.hp2 NA19006.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0115 a0010c0018t0001g0115	1	378	0.0027	0	c.516 others(3): Show c.516C>A	p.Tyr others(4): Show p.Tyr172*	CAPRIN2	ENSG00000110888.19	transcript	ENST00000695402.1	protein_coding	5/19	756/3727	516/3138	172/1045		chr12	TogoVar
CAPRIN2_chr12_30704553_30759951	30735188	T T	A A	stop_gained stop_gained	HIGH	NA19006.hp2 NA19006.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0115 a0010c0018t0001g0115	1	378	0.0027	0	c.346 others(3): Show c.346A>T	p.Lys others(4): Show p.Lys116*	CAPRIN2	ENSG00000110888.19	transcript	ENST00000695402.1	protein_coding	5/19	586/3727	346/3138	116/1045		chr12	TogoVar
CARD18_chr11_105132714_105144769	105138962	T T	A A	stop_gained stop_gained	HIGH	HG03669.hp2 HG03710.hp1 HG03669.hp2 HG03710.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0014 a0002c0005t0001g0014	2	432	0.0046	0	c.124 others(3): Show c.124A>T	p.Lys others(3): Show p.Lys42*	CARD18	ENSG00000255501.3	transcript	ENST00000530950.2	protein_coding	2/3	167/702	124/273	42/90		chr11	TogoVar
CARD8_chr19_48203086_48260912	48232468	C C	A A	stop_gained stop_gained	HIGH	NA18971.hp2 NA18971.hp2	a0009 a0009	a0009c0026 a0009c0026	a0009c0026t0002 a0009c0026t0002	a0009c0026t0002g0214 a0009c0026t0002g0214	1	362	0.0028	0	c.376 others(3): Show c.376G>T	p.Glu others(4): Show p.Glu126*	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	7/14	748/5610	376/1614	126/537		chr19	TogoVar
CASQ1_chr1_160185575_160206886	160199905	G G	T T	stop_gained stop_gained	HIGH	NA19079.hp2 NA19079.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0003 a0005c0011t0001g0003	1	440	0.0023	0	c.103 others(4): Show c.1039G>T	p.Gly others(4): Show p.Gly347*	CASQ1	ENSG00000143318.13	transcript	ENST00000368078.8	protein_coding	10/11	1216/1878	1039/1191	347/396		chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91610670	G G	GTTGAACC others(188): Show GTTGAACCCTGGAAATAACCAAATAAATGAAGGTTATTTAAAGTAACTGT TATGGACTGAACTGTGTCCAACCAAAAATCACATGTTGAAACCCCAACCT CCAGTATCTCAAAATGTGGCTGTATTTGGAGATAGGGCCTTTAAGGAGGT AATTAAGGTAAAATGAGGTCATTTGGGTGGGCCCCAATCCAGTGTC	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG01081.hp2 HG01081.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0047 a0006c0008t0001g0047	1	271	0.0037	195	c.240 others(208): Show c.2401-188_2407dupGACACTGGATTGGGGCCCACCCAAATGACCTC ATTTTACCTTAATTACCTCCTTAAAGGCCCTATCTCCAAATACAGCCACA TTTTGAGATACTGGAGGTTGGGGTTTCAACATGTGATTTTTGGTTGGACA CAGTTCAGTCCATAACAGTTACTTTAAATAACCTTCATTTATTTGGTTAT TTCCAGGGTTCAA	p.Ser others(208): Show p.Ser802_Thr803insArgHisTrpIleGlyAlaHisProAsnAspLe uIleLeuProTerLeuProProTerArgProTyrLeuGlnIleGlnProH isPheGluIleLeuGluValGlyValSerThrCysAspPheTrpLeuAsp ThrValGlnSerIleThrValThrLeuAsnAsnLeuHisLeuPheGlyTy rPheGlnGlySer	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	21/27	2564/3699	2407/3351	803/1116		chr14	TogoVar
CAVIN2_chr2_191829310_191852088	191846685	G G	A A	stop_gained stop_gained	HIGH	HG02015.hp2 HG02015.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0002 a0003c0013t0002	a0003c0013t0002g0109 a0003c0013t0002g0109	1	382	0.0026	0	c.241 others(3): Show c.241C>T	p.Gln others(3): Show p.Gln81*	CAVIN2	ENSG00000168497.5	transcript	ENST00000304141.5	protein_coding	1/2	404/3054	241/1278	81/425		chr2	TogoVar
CAVIN3_chr11_6313946_6325501	6320408	C C	CTCAAAAA others(3): Show CTCAAAAAAGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01243.hp2 HG01243.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0018 a0007c0013t0001g0018	1	426	0.0024	10	c.68_ others(15): Show c.68_69insCCTTTTTTGA	p.Thr others(4): Show p.Thr24fs	CAVIN3	ENSG00000170955.10	transcript	ENST00000303927.4	protein_coding	1/2	93/1028	68/786	23/261		chr11	TogoVar

Search by Variant

Search

Search Results (Total: 3004 hits)