JoGo: Joint Open Genome and Omics Platform

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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ARMCX4_chrX_101480456_101500807	101489815	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19078.hp2 NA19078.hp2	a0060 a0060	a0060c0023 a0060c0023	a0060c0023t0002 a0060c0023t0002	a0060c0023t0002g0033 a0060c0023t0002g0033	1	326	0.0031	1	c.122 others(5): Show c.1227dupC	p.Ala others(5): Show p.Ala410fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	1739/7729	1228/6873	410/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101490025	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0041 a0041	a0041c0042 a0041c0042	a0041c0042t0002 a0041c0042t0002	a0041c0042t0002g0028 a0041c0042t0002g0028	1	326	0.0031	1	c.143 others(5): Show c.1437dupT	p.Val others(5): Show p.Val480fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	1949/7729	1438/6873	480/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101490298	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0041 a0041	a0041c0042 a0041c0042	a0041c0042t0002 a0041c0042t0002	a0041c0042t0002g0028 a0041c0042t0002g0028	1	326	0.0031	1	c.170 others(10): Show c.1709_1710insT	p.Asn others(5): Show p.Asn571fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	2221/7729	1710/6873	570/2290		chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101490415	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0041 a0041	a0041c0042 a0041c0042	a0041c0042t0002 a0041c0042t0002	a0041c0042t0002g0028 a0041c0042t0002g0028	1	326	0.0031	1	c.182 others(5): Show c.1829dupG	p.Asn others(5): Show p.Asn611fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	2341/7729	1830/6873	610/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101491428	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18972.hp1 NA18972.hp1	a0040 a0040	a0040c0043 a0040c0043	a0040c0043t0002 a0040c0043t0002	a0040c0043t0002g0036 a0040c0043t0002g0036	1	326	0.0031	-1	c.284 others(5): Show c.2840delC	p.Ser others(5): Show p.Ser947fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	3351/7729	2840/6873	947/2290		chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101491643	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18972.hp1 NA18972.hp1	a0040 a0040	a0040c0043 a0040c0043	a0040c0043t0002 a0040c0043t0002	a0040c0043t0002g0036 a0040c0043t0002g0036	1	326	0.0031	1	c.305 others(5): Show c.3057dupG	p.Thr others(6): Show p.Thr1020fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	3569/7729	3058/6873	1020/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101491846	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA18972.hp2 NA18972.hp2	a0038 a0038	a0038c0065 a0038c0065	a0038c0065t0001 a0038c0065t0001	a0038c0065t0001g0008 a0038c0065t0001g0008	1	326	0.0031	1	c.326 others(5): Show c.3260dupA	p.Thr others(6): Show p.Thr1088fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	3772/7729	3261/6873	1087/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101492249	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG02738.hp1 HG02738.hp1	a0036 a0036	a0036c0047 a0036c0047	a0036c0047t0003 a0036c0047t0003	a0036c0047t0003g0002 a0036c0047t0003g0002	1	326	0.0031	1	c.366 others(5): Show c.3666dupG	p.Ser others(6): Show p.Ser1223fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	4178/7729	3667/6873	1223/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101492345	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0042 a0042	a0042c0028 a0042c0028	a0042c0028t0002 a0042c0028t0002	a0042c0028t0002g0007 a0042c0028t0002g0007	1	326	0.0031	1	c.376 others(5): Show c.3760dupG	p.Val others(6): Show p.Val1254fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	4272/7729	3761/6873	1254/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101492378	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0021 a0021	a0021c0063 a0021c0063	a0021c0063t0001 a0021c0063t0001	a0021c0063t0001g0002 a0021c0063t0001g0002	1	326	0.0031	-1	c.379 others(5): Show c.3792delG	p.Ser others(6): Show p.Ser1265fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	4303/7729	3792/6873	1264/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101492675	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18953.hp1 NA18953.hp1	a0033 a0033	a0033c0050 a0033c0050	a0033c0050t0009 a0033c0050t0009	a0033c0050t0009g0002 a0033c0050t0009g0002	1	326	0.0031	1	c.408 others(5): Show c.4089dupG	p.Ser others(6): Show p.Ser1364fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	4601/7729	4090/6873	1364/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101492715	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0021 a0021	a0021c0063 a0021c0063	a0021c0063t0001 a0021c0063t0001	a0021c0063t0001g0002 a0021c0063t0001g0002	1	326	0.0031	-1	c.412 others(5): Show c.4128delC	p.Trp others(6): Show p.Trp1377fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	4639/7729	4128/6873	1376/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101492766	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA18953.hp1 NA18953.hp1	a0033 a0033	a0033c0050 a0033c0050	a0033c0050t0009 a0033c0050t0009	a0033c0050t0009g0002 a0033c0050t0009g0002	1	326	0.0031	1	c.418 others(5): Show c.4181dupA	p.Asn others(6): Show p.Asn1394fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	4693/7729	4182/6873	1394/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101492966	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18976.hp1 NA18976.hp1	a0055 a0055	a0055c0032 a0055c0032	a0055c0032t0002 a0055c0032t0002	a0055c0032t0002g0035 a0055c0032t0002g0035	1	326	0.0031	-1	c.438 others(5): Show c.4380delG	p.Pro others(6): Show p.Pro1461fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	4891/7729	4380/6873	1460/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101492981	AT AT	A A	frameshift_variant frameshift_variant	HIGH	NA18976.hp2 NA18976.hp2	a0031 a0031	a0031c0052 a0031c0052	a0031c0052t0001 a0031c0052t0001	a0031c0052t0001g0002 a0031c0052t0001g0002	1	326	0.0031	-1	c.439 others(5): Show c.4395delT	p.Phe others(6): Show p.Phe1465fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	4906/7729	4395/6873	1465/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101493095	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0021 a0021	a0021c0063 a0021c0063	a0021c0063t0001 a0021c0063t0001	a0021c0063t0001g0002 a0021c0063t0001g0002	1	326	0.0031	-1	c.451 others(5): Show c.4510delG	p.Asp others(6): Show p.Asp1504fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5021/7729	4510/6873	1504/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101493127	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0021 a0021	a0021c0063 a0021c0063	a0021c0063t0001 a0021c0063t0001	a0021c0063t0001g0002 a0021c0063t0001g0002	1	326	0.0031	-1	c.454 others(5): Show c.4541delC	p.Pro others(6): Show p.Pro1514fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5052/7729	4541/6873	1514/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101493232	A A	AT AT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18953.hp1 NA18953.hp1	a0033 a0033	a0033c0050 a0033c0050	a0033c0050t0009 a0033c0050t0009	a0033c0050t0009g0002 a0033c0050t0009g0002	1	326	0.0031	1	c.464 others(5): Show c.4644dupT	p.Ser others(6): Show p.Ser1549fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5156/7729	4645/6873	1549/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101493311	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18961.hp1 NA18961.hp1	a0046 a0046	a0046c0033 a0046c0033	a0046c0033t0002 a0046c0033t0002	a0046c0033t0002g0001 a0046c0033t0002g0001	1	326	0.0031	-1	c.472 others(5): Show c.4724delG	p.Gly others(6): Show p.Gly1575fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5235/7729	4724/6873	1575/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101493314	AT AT	A A	frameshift_variant frameshift_variant	HIGH	NA18976.hp2 NA18976.hp2	a0031 a0031	a0031c0052 a0031c0052	a0031c0052t0001 a0031c0052t0001	a0031c0052t0001g0002 a0031c0052t0001g0002	1	326	0.0031	-1	c.472 others(5): Show c.4728delT	p.Phe others(6): Show p.Phe1576fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5239/7729	4728/6873	1576/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101493335	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18972.hp2 NA19083.hp1 NA18972.hp2 NA19083.hp1	a0038 a0042 a0038 a0042	a0038c0065 a0042c0028 a0038c0065 a0042c0028	a0038c0065t0001 a0042c0028t0002 a0038c0065t0001 a0042c0028t0002	a0038c0065t0001g0008 a0042c0028t0002g0007 a0038c0065t0001g0008 a0042c0028t0002g0007	2	326	0.0061	1	c.475 others(5): Show c.4752dupG	p.Phe others(6): Show p.Phe1585fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5264/7729	4753/6873	1585/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101493336	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA19078.hp1 NA19078.hp1	a0022 a0022	a0022c0053 a0022c0053	a0022c0053t0001 a0022c0053t0001	a0022c0053t0001g0025 a0022c0053t0001g0025	1	326	0.0031	1	c.474 others(10): Show c.4747_4748insA	p.Gly others(6): Show p.Gly1583fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5259/7729	4748/6873	1583/2290		chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101493356	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18953.hp1 NA18953.hp1	a0033 a0033	a0033c0050 a0033c0050	a0033c0050t0009 a0033c0050t0009	a0033c0050t0009g0002 a0033c0050t0009g0002	1	326	0.0031	1	c.477 others(5): Show c.4771dupG	p.Asp others(6): Show p.Asp1591fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5283/7729	4772/6873	1591/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101493446	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18972.hp2 NA18972.hp2	a0038 a0038	a0038c0065 a0038c0065	a0038c0065t0001 a0038c0065t0001	a0038c0065t0001g0008 a0038c0065t0001g0008	1	326	0.0031	1	c.486 others(5): Show c.4862dupG	p.Ala others(6): Show p.Ala1622fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5374/7729	4863/6873	1621/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101493492	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19062.hp1 NA19062.hp1	a0030 a0030	a0030c0054 a0030c0054	a0030c0054t0001 a0030c0054t0001	a0030c0054t0001g0002 a0030c0054t0001g0002	1	326	0.0031	-1	c.490 others(5): Show c.4906delG	p.Ala others(6): Show p.Ala1636fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5417/7729	4906/6873	1636/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101493651	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA19078.hp2 NA19078.hp2	a0060 a0060	a0060c0023 a0060c0023	a0060c0023t0002 a0060c0023t0002	a0060c0023t0002g0033 a0060c0023t0002g0033	1	326	0.0031	-1	c.506 others(5): Show c.5064delG	p.Arg others(6): Show p.Arg1688fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5575/7729	5064/6873	1688/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101493794	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18953.hp1 NA18953.hp1	a0033 a0033	a0033c0050 a0033c0050	a0033c0050t0009 a0033c0050t0009	a0033c0050t0009g0002 a0033c0050t0009g0002	1	326	0.0031	1	c.520 others(5): Show c.5208dupG	p.Pro others(6): Show p.Pro1737fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5720/7729	5209/6873	1737/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101493810	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18976.hp2 NA18976.hp2	a0031 a0031	a0031c0052 a0031c0052	a0031c0052t0001 a0031c0052t0001	a0031c0052t0001g0002 a0031c0052t0001g0002	1	326	0.0031	-1	c.522 others(5): Show c.5223delC	p.Val others(6): Show p.Val1742fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5734/7729	5223/6873	1741/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101493840	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA19078.hp2 NA19078.hp2	a0060 a0060	a0060c0023 a0060c0023	a0060c0023t0002 a0060c0023t0002	a0060c0023t0002g0033 a0060c0023t0002g0033	1	326	0.0031	-1	c.525 others(5): Show c.5256delA	p.Ala others(6): Show p.Ala1753fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5767/7729	5256/6873	1752/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101493908	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0061 a0061	a0061c0022 a0061c0022	a0061c0022t0002 a0061c0022t0002	a0061c0022t0002g0001 a0061c0022t0002g0001	1	326	0.0031	-1	c.532 others(5): Show c.5323delG	p.Glu others(6): Show p.Glu1775fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5834/7729	5323/6873	1775/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101493950	CA CA	C C	frameshift_variant frameshift_variant	HIGH	NA18976.hp2 NA18976.hp2	a0031 a0031	a0031c0052 a0031c0052	a0031c0052t0001 a0031c0052t0001	a0031c0052t0001g0002 a0031c0052t0001g0002	1	326	0.0031	-1	c.536 others(5): Show c.5363delA	p.Lys others(6): Show p.Lys1788fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5874/7729	5363/6873	1788/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(420): Show GGGGCTGAGGCTGGGGCTGGGGGTTGGGGCTGGGGTTGGGGCTGGGCTGG GGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGA GGCTGGGGCTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGG CTGAGGTTGGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCT GGGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGG GGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGG CTGGGGCTGAGGCTGGGGGCTGAGGCTC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18953.hp1 NA18953.hp1	a0033 a0033	a0033c0050 a0033c0050	a0033c0050t0009 a0033c0050t0009	a0033c0050t0009g0002 a0033c0050t0009g0002	1	326	0.0031	427	c.546 others(436): Show c.5461_5462insGTTGGGGCTGGGGTTGGGGCTGGGCTGGGGCTGAGG CTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCT GGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGG CTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTT GGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAG GGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGG CTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCT GAGGCTGGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Ala others(6): Show p.Ala1821fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(408): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGGCTGGGGCTGAGGCTG AGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGG ACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGC TGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTG GGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGG GCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGC TGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTC GGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAG GCTGGGGCTGAGGCTC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18961.hp1 NA18961.hp1	a0046 a0046	a0046c0033 a0046c0033	a0046c0033t0002 a0046c0033t0002	a0046c0033t0002g0001 a0046c0033t0002g0001	1	326	0.0031	415	c.546 others(424): Show c.5461_5462insTTGGGGCTGGGGGCTGGGGCTGAGGCTGAGGCTGGG GCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGC TGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTG GGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAG GCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGAC TGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTG AGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAG GCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGC TGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Ala others(6): Show p.Ala1821fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(418): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGTTGGGGCTGGGGCTGG GGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCG GGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAG GCTGGGGCTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGC TGAGGTTGGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTG GGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGG GCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGC TGGGGCTGAGGCTGGGGCTGAGGCTC	frameshift_variant frameshift_variant	HIGH	NA18976.hp2 NA18976.hp2	a0031 a0031	a0031c0052 a0031c0052	a0031c0052t0001 a0031c0052t0001	a0031c0052t0001g0002 a0031c0052t0001g0002	1	326	0.0031	425	c.546 others(434): Show c.5461_5462insTTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGG CTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCT GGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCGGGGCTGGG GCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGC TGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTG GGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGG GCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGC TCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTG AGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Ala others(6): Show p.Ala1821fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(418): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGTTGGGGCTGGGGCTGG GGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGCTTGGGGCTGA GGCTGGGGCTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGG CTGAGGTTGGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGCTGAGGCTG GGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGG GCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGC TGGGGCTGAGGCTGGGGCTGAGGCTC	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0021 a0021	a0021c0063 a0021c0063	a0021c0063t0001 a0021c0063t0001	a0021c0063t0001g0002 a0021c0063t0001g0002	1	326	0.0031	425	c.546 others(434): Show c.5461_5462insTTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGG CTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCT GGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GGCTGGGGCTGGGGCTGGGACTGAGGCTGGGCTTGGGGCTGAGGCTGGGG CTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTT GGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGCTGAGGCTGGGGCTAGG GCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGC TCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTG AGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Ala others(6): Show p.Ala1821fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(420): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGTTGGGGCTGGGGCTGG GGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGA GGCTGGGGCTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGG CTGAGGTTGGGGCTGGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGC TGGGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTG GGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGG GCTGGGGCTGAGGCTGGGGCTGAGGCTC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18977.hp1 NA18977.hp1	a0024 a0024	a0024c0061 a0024c0061	a0024c0061t0001 a0024c0061t0001	a0024c0061t0001g0018 a0024c0061t0001g0018	1	326	0.0031	427	c.546 others(436): Show c.5461_5462insTTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGG CTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCT GGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGG CTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTT GGGGCTGGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTA GGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAG GCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGC TGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Ala others(6): Show p.Ala1821fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494112	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0021 a0021	a0021c0063 a0021c0063	a0021c0063t0001 a0021c0063t0001	a0021c0063t0001g0002 a0021c0063t0001g0002	1	326	0.0031	-1	c.552 others(5): Show c.5526delG	p.Pro others(6): Show p.Pro1843fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	6037/7729	5526/6873	1842/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494190	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18976.hp2 NA19089.hp1 NA18976.hp2 NA19089.hp1	a0021 a0031 a0021 a0031	a0021c0063 a0031c0052 a0021c0063 a0031c0052	a0021c0063t0001 a0031c0052t0001 a0021c0063t0001 a0031c0052t0001	a0021c0063t0001g0002 a0031c0052t0001g0002 a0021c0063t0001g0002 a0031c0052t0001g0002	2	326	0.0061	-1	c.560 others(5): Show c.5605delG	p.Glu others(6): Show p.Glu1869fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	6116/7729	5605/6873	1869/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494346	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA19078.hp2 NA19078.hp2	a0060 a0060	a0060c0023 a0060c0023	a0060c0023t0002 a0060c0023t0002	a0060c0023t0002g0033 a0060c0023t0002g0033	1	326	0.0031	-1	c.576 others(5): Show c.5760delA	p.Asp others(6): Show p.Asp1921fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	6271/7729	5760/6873	1920/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494452	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA19062.hp1 NA19062.hp1	a0030 a0030	a0030c0054 a0030c0054	a0030c0054t0001 a0030c0054t0001	a0030c0054t0001g0002 a0030c0054t0001g0002	1	326	0.0031	-1	c.586 others(5): Show c.5867delA	p.Asn others(6): Show p.Asn1956fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	6378/7729	5867/6873	1956/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494469	CA CA	C C	frameshift_variant frameshift_variant	HIGH	NA19062.hp1 NA19062.hp1	a0030 a0030	a0030c0054 a0030c0054	a0030c0054t0001 a0030c0054t0001	a0030c0054t0001g0002 a0030c0054t0001g0002	1	326	0.0031	-1	c.588 others(5): Show c.5883delA	p.Lys others(6): Show p.Lys1961fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	6394/7729	5883/6873	1961/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494481	TA TA	T T	frameshift_variant frameshift_variant	HIGH	NA19062.hp1 NA19062.hp1	a0030 a0030	a0030c0054 a0030c0054	a0030c0054t0001 a0030c0054t0001	a0030c0054t0001g0002 a0030c0054t0001g0002	1	326	0.0031	-1	c.589 others(5): Show c.5894delA	p.Lys others(6): Show p.Lys1965fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	6405/7729	5894/6873	1965/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494549	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19062.hp1 NA19062.hp1	a0030 a0030	a0030c0054 a0030c0054	a0030c0054t0001 a0030c0054t0001	a0030c0054t0001g0002 a0030c0054t0001g0002	1	326	0.0031	-1	c.596 others(5): Show c.5964delG	p.Ser others(6): Show p.Ser1989fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	6475/7729	5964/6873	1988/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494557	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19062.hp1 NA19062.hp1	a0030 a0030	a0030c0054 a0030c0054	a0030c0054t0001 a0030c0054t0001	a0030c0054t0001g0002 a0030c0054t0001g0002	1	326	0.0031	-1	c.597 others(5): Show c.5971delG	p.Asp others(6): Show p.Asp1991fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	6482/7729	5971/6873	1991/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494566	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18976.hp2 NA18976.hp2	a0031 a0031	a0031c0052 a0031c0052	a0031c0052t0001 a0031c0052t0001	a0031c0052t0001g0002 a0031c0052t0001g0002	1	326	0.0031	-1	c.597 others(5): Show c.5979delC	p.Met others(6): Show p.Met1994fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	6490/7729	5979/6873	1993/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494581	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA19078.hp2 NA19078.hp2	a0060 a0060	a0060c0023 a0060c0023	a0060c0023t0002 a0060c0023t0002	a0060c0023t0002g0033 a0060c0023t0002g0033	1	326	0.0031	-1	c.599 others(5): Show c.5995delA	p.Thr others(6): Show p.Thr1999fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	6506/7729	5995/6873	1999/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494615	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19062.hp1 NA19078.hp2 NA19062.hp1 NA19078.hp2	a0030 a0060 a0030 a0060	a0030c0054 a0060c0023 a0030c0054 a0060c0023	a0030c0054t0001 a0060c0023t0002 a0030c0054t0001 a0060c0023t0002	a0030c0054t0001g0002 a0060c0023t0002g0033 a0030c0054t0001g0002 a0060c0023t0002g0033	2	326	0.0061	-1	c.602 others(5): Show c.6029delC	p.Pro others(6): Show p.Pro2010fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	6540/7729	6029/6873	2010/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494632	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18976.hp2 NA18976.hp2	a0031 a0031	a0031c0052 a0031c0052	a0031c0052t0001 a0031c0052t0001	a0031c0052t0001g0002 a0031c0052t0001g0002	1	326	0.0031	-1	c.604 others(5): Show c.6045delC	p.Arg others(6): Show p.Arg2016fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	6556/7729	6045/6873	2015/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494652	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19062.hp1 NA19062.hp1	a0030 a0030	a0030c0054 a0030c0054	a0030c0054t0001 a0030c0054t0001	a0030c0054t0001g0002 a0030c0054t0001g0002	1	326	0.0031	-1	c.606 others(5): Show c.6067delG	p.Glu others(6): Show p.Glu2023fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	6578/7729	6067/6873	2023/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494669	C C	CCTGGT CCTGGT	frameshift_variant frameshift_variant	HIGH	NA18976.hp2 NA18976.hp2	a0031 a0031	a0031c0052 a0031c0052	a0031c0052t0001 a0031c0052t0001	a0031c0052t0001g0002 a0031c0052t0001g0002	1	326	0.0031	5	c.608 others(14): Show c.6083_6087dupGGTCT	p.Cys others(6): Show p.Cys2030fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	6599/7729	6088/6873	2030/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar

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Search Results (Total: 5828 hits)