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.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PLG_chr6_160697244_160759097	160748354	A A	AAGAAAGA others(25): Show AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02071.hp1 HG02132.hp1 others(19): Show HG00733.hp1 HG02071.hp1 HG02132.hp1 HG02145.hp2 HG02630.hp2 HG03654.hp2 HG04115.hp1 HG04184.hp1 NA18946.hp1 NA18955.hp1 NA18973.hp1 NA18979.hp2 NA18986.hp2 NA18987.hp2 NA18998.hp1 NA19002.hp2 NA19003.hp1 NA19062.hp1 NA19062.hp2 NA19077.hp1 NA19077.hp2 NA20300.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0019 a0001c0001 a0001c0002 a0009c0019	a0001c0001t0001 a0001c0001t0019 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0019 a0001c0002t0001 a0009c0019t0001	a0001c0001t0001g0029 a0001c0001t0001g0054 a0001c0001t0001g0055 others(19): Show a0001c0001t0001g0029 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0104 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0193 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0324 a0001c0001t0001g0330 a0001c0001t0001g0338 a0001c0001t0019g0217 a0001c0002t0001g0149 a0001c0002t0001g0353 a0009c0019t0001g0327	22	384	0.0573	32	c.212 others(51): Show c.2126-3738_2126-3737insGAGAGAGAGAGAAAGAAAGAAAGAAA GAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748358	A A	AAGAAAGA others(25): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18954.hp2 NA19060.hp2 HG01243.hp2 NA18954.hp2 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0083 a0001c0003t0001g0154 a0001c0003t0001g0205 a0001c0002t0001g0083 a0001c0003t0001g0154 a0001c0003t0001g0205	3	384	0.0078	32	c.212 others(51): Show c.2126-3738_2126-3737insGAGAGAGAGAGAGAGAAAGAAAGAAA GAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748358	A A	AAGAAAGA others(25): Show AAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0148 a0006c0014t0001g0148	1	384	0.0026	32	c.212 others(51): Show c.2126-3742_2126-3741insGAGAGAGAGAGAGAGAGAGAAAGAAA GAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLIN2_chr9_19110761_19132492	19122486	T T	TACCATAT others(25): Show TACCATATAGCCTAGGTATATAGCAGGCTATAC	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18989.hp2 NA18990.hp1 others(3): Show HG02523.hp1 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA19009.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0077 a0001c0001t0001g0103 a0001c0001t0001g0022 a0001c0001t0001g0077 a0001c0001t0001g0103	6	448	0.0134	32	c.309 others(49): Show c.309+1047_309+1078dupGTATAGCCTGCTATATACCTAGGCTATA TGGT	PLIN2	ENSG00000147872.10	transcript	ENST00000276914.7	protein_coding	4/7			chr9	TogoVar
PLK3_chr1_44795377_44810990	44795550	A A	AATATATA others(25): Show AATATATAAAAATATATAAAAATATATATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG03130.hp1 NA19043.hp2 HG02257.hp2 HG03130.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0033 a0001c0001t0001g0009 a0001c0001t0001g0033	3	384	0.0078	32	c.-49 others(43): Show c.-4914_-4913insATATATAAAAATATATAAAAATATATATAAAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		4826		chr1	TogoVar
PLK3_chr1_44795377_44810990	44795712	A A	AATATATA others(25): Show AATATATAAATATAAATAAATATATATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 NA18972.hp2 HG02723.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0002 a0001c0002t0001g0007	2	384	0.0052	32	c.-47 others(43): Show c.-4752_-4751insATATATAAATATAAATAAATATATATAAATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		4664		chr1	TogoVar
PLK3_chr1_44795377_44810990	44795807	A A	ATAAATAT others(25): Show ATAAATATAAATATATAAATATATATAAATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG02486.hp1 HG02622.hp2 others(8): Show HG00642.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0019	11	384	0.0287	32	c.-46 others(43): Show c.-4657_-4656insTAAATATAAATATATAAATATATATAAATATG	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		4569		chr1	TogoVar
PLK3_chr1_44795377_44810990	44795833	A A	ATAAATAT others(25): Show ATAAATATTATATAGATATAATATAATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	384	0.0026	32	c.-46 others(43): Show c.-4631_-4630insTAAATATTATATAGATATAATATAATAAATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		4543		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18998.hp1 NA19084.hp2 NA18943.hp2 NA18998.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0001t0001g0005 a0001c0001t0001g0034	3	384	0.0078	32	c.-24 others(43): Show c.-2481_-2480insAAAAAAATATATATATATATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLOD1_chr1_11929717_11980537	11967595	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA19012.hp2 NA19060.hp2 others(1): Show NA18960.hp2 NA19012.hp2 NA19060.hp2 NA19062.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0157 a0002c0003t0001g0268 a0002c0003t0001g0271 others(1): Show a0001c0002t0001g0157 a0002c0003t0001g0268 a0002c0003t0001g0271 a0002c0003t0001g0281	4	380	0.0105	32	c.175 others(49): Show c.1755+505_1755+506insATATATATATATATATATATATATATAT ATAT	PLOD1	ENSG00000083444.17	transcript	ENST00000196061.5	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLOD1_chr1_11929717_11980537	11967597	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG04199.hp2 NA19005.hp2 HG01928.hp1 HG04199.hp2 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0177 a0001c0002t0001g0195 a0001c0002t0001g0141 a0001c0002t0001g0177 a0001c0002t0001g0195	3	380	0.0079	32	c.175 others(49): Show c.1755+524_1755+525insTATATATATATATATATATATATATATA TATA	PLOD1	ENSG00000083444.17	transcript	ENST00000196061.5	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLPP1_chr5_55419854_55539964	55443212	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01975.hp2 HG00733.hp1 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0086 a0001c0001t0002g0008 a0001c0001t0001g0086 a0001c0001t0002g0008	2	294	0.0068	32	c.492 others(49): Show c.492-1305_492-1304insGTGTATATATATATATATATATATATAT ATAT	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	3/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55444741	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02717.hp1 HG03209.hp2 HG01168.hp1 HG02717.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0026 a0001c0001t0001g0185 a0001c0001t0001g0186	3	294	0.0102	32	c.492 others(49): Show c.492-2834_492-2833insCACACACACACACACACACACACACACA CACA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	3/5			chr5	TogoVar
PLPP2_chr19_276043_296403	291604	G G	GGAGGGGC others(25): Show GGAGGGGCGGGGAGGGGAGAGGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	354	0.0028	32	c.-26 others(41): Show c.-269_-268insTCCCCTCCCCCCCTCTCCCCTCCCCGCCCCTC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		202		chr19	TogoVar
PLPP3_chr1_56489761_56584563	56518715	T T	TTACATAT others(25): Show TTACATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	336	0.0030	32	c.633 others(49): Show c.633+5107_633+5108insTATATATATATATATATATATATATATA TGTA	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	4/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56518715	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01496.hp1 HG00738.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0056 a0001c0003t0004g0217 a0001c0003t0004g0056 a0001c0003t0004g0217	2	336	0.0060	32	c.633 others(49): Show c.633+5107_633+5108insTATATATATATATATATATATATATATA TATA	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	4/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557040	G G	GAGAAAGA others(25): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	336	0.0030	32	c.140 others(51): Show c.140-19929_140-19928insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557044	G G	GAGAAAGA others(25): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0298 a0001c0001t0002g0298	1	336	0.0030	32	c.140 others(51): Show c.140-19933_140-19932insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPPR1_chr9_101023727_101330135	101316616	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02895.hp1 HG02109.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0131 a0001c0001t0002g0013 a0001c0001t0002g0131	2	203	0.0099	32	c.814 others(47): Show c.814-737_814-736insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR5_chr1_98885245_99009861	98928548	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00642.hp2 others(3): Show HG00544.hp2 HG00609.hp1 HG00642.hp2 HG01978.hp2 HG02132.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0001t0021	a0001c0001t0003g0189 a0001c0001t0004g0217 a0001c0001t0004g0242 others(3): Show a0001c0001t0003g0189 a0001c0001t0004g0217 a0001c0001t0004g0242 a0001c0001t0004g0266 a0001c0001t0017g0246 a0001c0001t0021g0149	6	280	0.0214	32	c.622 others(49): Show c.622-6491_622-6490insATATATATATATATATATATATATATAT ATAT	PLPPR5	ENSG00000117598.14	transcript	ENST00000263177.5	protein_coding	3/5			chr1	TogoVar
PLVAP_chr19_17346455_17382342	17382276	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	436	0.0023	32	c.-49 others(43): Show c.-4989_-4988insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4935		chr19	TogoVar
PLXDC1_chr17_39058313_39156637	39129688	A A	AAAAAAAA others(25): Show AAAAAAAAGAAAGAAAGAAAGAAAGAAGGAAAG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0128 a0001c0002t0036g0128	1	320	0.0031	32	c.255 others(49): Show c.255+9965_255+9966insCTTTCCTTCTTTCTTTCTTTCTTTCTTT TTTT	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXDC1_chr17_39058313_39156637	39129688	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp2 HG00735.hp1 others(26): Show HG00438.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01106.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01358.hp1 HG01496.hp1 HG01934.hp2 HG02015.hp2 HG02027.hp2 HG02280.hp1 HG02622.hp2 HG02698.hp2 HG02735.hp1 HG02976.hp2 HG03195.hp1 HG03710.hp1 HG04115.hp2 NA18612.hp2 NA18945.hp2 NA18956.hp1 NA18983.hp1 NA18984.hp2 NA18990.hp2 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0055 a0001c0002t0002 a0001c0002t0005 a0001c0002t0020 a0001c0002t0023 a0001c0002t0026 a0001c0011t0002 a0002c0003t0008 a0002c0003t0039	a0001c0001t0001g0224 a0001c0001t0003g0169 a0001c0001t0003g0171 others(26): Show a0001c0001t0001g0224 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0004g0240 a0001c0001t0006g0161 a0001c0001t0010g0117 a0001c0001t0055g0282 a0001c0002t0002g0003 a0001c0002t0002g0099 a0001c0002t0002g0174 a0001c0002t0002g0176 a0001c0002t0002g0205 a0001c0002t0002g0207 a0001c0002t0002g0211 a0001c0002t0002g0213 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0005g0216 a0001c0002t0005g0219 a0001c0002t0020g0225 a0001c0002t0020g0226 a0001c0002t0023g0305 a0001c0002t0026g0200 a0001c0011t0002g0172 a0002c0003t0008g0109 a0002c0003t0008g0114 a0002c0003t0039g0106	29	320	0.0906	32	c.255 others(49): Show c.255+9965_255+9966insCTTTCCTTCTTTCTTTCTTTCTTTCTTT CTTT	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXDC1_chr17_39058313_39156637	39129688	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA18998.hp2 HG01993.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0273 a0001c0001t0003g0084 a0001c0001t0001g0273 a0001c0001t0003g0084	2	320	0.0063	32	c.255 others(49): Show c.255+9965_255+9966insCTTTCTTTCTTTCCTTCTTTCTTTCTTT CTTT	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXDC1_chr17_39058313_39156637	39129711	G G	GGAAAGAA others(25): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG01167.hp2 others(26): Show HG00558.hp2 HG00609.hp1 HG01167.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp1 HG02165.hp2 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02717.hp2 HG02738.hp2 HG02922.hp2 HG02976.hp1 HG03453.hp2 HG03471.hp2 HG03579.hp2 HG03688.hp1 NA18747.hp2 NA18906.hp1 NA18950.hp1 NA18967.hp1 NA18984.hp1 NA19000.hp2 NA19011.hp1 NA19043.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0049 a0001c0001t0052 a0001c0001t0058 a0001c0001t0061 a0001c0002t0002 a0001c0002t0024 a0001c0002t0057 a0001c0002t0060 a0001c0004t0007 a0001c0004t0013 a0002c0003t0015 a0002c0003t0041	a0001c0001t0001g0066 a0001c0001t0001g0082 a0001c0001t0001g0267 others(26): Show a0001c0001t0001g0066 a0001c0001t0001g0082 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0003g0095 a0001c0001t0003g0244 a0001c0001t0003g0246 a0001c0001t0004g0097 a0001c0001t0004g0251 a0001c0001t0011g0301 a0001c0001t0014g0096 a0001c0001t0016g0243 a0001c0001t0017g0077 a0001c0001t0017g0078 a0001c0001t0019g0013 a0001c0001t0049g0249 a0001c0001t0052g0284 a0001c0001t0058g0285 a0001c0001t0061g0292 a0001c0002t0002g0192 a0001c0002t0002g0201 a0001c0002t0024g0087 a0001c0002t0057g0286 a0001c0002t0060g0317 a0001c0004t0007g0141 a0001c0004t0007g0143 a0001c0004t0013g0139 a0002c0003t0015g0304 a0002c0003t0041g0142	29	320	0.0906	32	c.255 others(49): Show c.255+9942_255+9943insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXDC1_chr17_39058313_39156637	39131637	G G	GCCACCAT others(25): Show GCCACCATGCCCAGACAACCTTTATCTTCTCTC	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	320	0.0031	32	c.255 others(49): Show c.255+7985_255+8016dupGAGAGAAGATAAAGGTTGTCTGGGCATG GTGG	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXDC2_chr10_19811432_20294856	20026838	T T	TACTTTTA others(25): Show TACTTTTATAATATATTCTAATATATAGAATAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18959.hp1 HG01496.hp2 NA18959.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0103 a0002c0002t0112 a0001c0001t0103 a0002c0002t0112	a0001c0001t0103g0130 a0002c0002t0112g0035 a0001c0001t0103g0130 a0002c0002t0112g0035	2	180	0.0111	32	c.325 others(51): Show c.325-19782_325-19751dupTAGAATACACTTTTATAATATATTCT AATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20027094	C C	CACTTTTA others(25): Show CACTTTTATAATATATTCTAATATATAGAATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0143 a0001c0001t0088g0143	1	180	0.0056	32	c.325 others(51): Show c.325-19751_325-19750insTAGAATATACTTTTATAATATATTCT AATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20044122	T T	TCCTTCCT others(25): Show TCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0052 a0001c0001t0116g0052	1	180	0.0056	32	c.325 others(49): Show c.325-2744_325-2743insTCCTTCCTTCCTTCCTTCCTCCCTCCCT CCCT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20044122	T T	TCCTTCCT others(25): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG00673.hp1 others(30): Show HG00323.hp1 HG00639.hp1 HG00673.hp1 HG01192.hp1 HG01261.hp2 HG01516.hp2 HG01978.hp2 HG02080.hp1 HG02109.hp2 HG02300.hp1 HG02300.hp2 HG02896.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03927.hp2 NA18747.hp2 NA18945.hp1 NA18954.hp2 NA18961.hp2 NA18964.hp1 NA18978.hp1 NA18982.hp1 NA18982.hp2 NA19043.hp1 NA19085.hp1 NA19090.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 others(28): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0028 a0001c0001t0054 a0001c0001t0055 a0001c0001t0067 a0001c0001t0068 a0001c0001t0089 a0001c0001t0096 a0001c0001t0098 a0001c0001t0115 a0001c0001t0117 a0001c0005t0056 a0001c0005t0118 a0001c0005t0119 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0019 a0002c0002t0020 a0002c0002t0035 a0002c0002t0052 a0002c0002t0053 a0003c0003t0009 a0003c0003t0018 a0003c0003t0023 a0003c0003t0073 a0004c0004t0078	a0001c0001t0003g0027 a0001c0001t0010g0063 a0001c0001t0012g0028 others(30): Show a0001c0001t0003g0027 a0001c0001t0010g0063 a0001c0001t0012g0028 a0001c0001t0012g0176 a0001c0001t0014g0085 a0001c0001t0017g0106 a0001c0001t0017g0144 a0001c0001t0028g0155 a0001c0001t0054g0135 a0001c0001t0055g0024 a0001c0001t0067g0032 a0001c0001t0068g0173 a0001c0001t0089g0099 a0001c0001t0096g0082 a0001c0001t0098g0122 a0001c0001t0115g0072 a0001c0001t0117g0060 a0001c0005t0056g0023 a0001c0005t0118g0048 a0001c0005t0119g0042 a0002c0002t0001g0076 a0002c0002t0002g0017 a0002c0002t0007g0037 a0002c0002t0019g0108 a0002c0002t0020g0121 a0002c0002t0035g0116 a0002c0002t0052g0174 a0002c0002t0053g0139 a0003c0003t0009g0115 a0003c0003t0018g0098 a0003c0003t0023g0066 a0003c0003t0073g0031 a0004c0004t0078g0126	33	180	0.1833	32	c.325 others(49): Show c.325-2744_325-2743insTCCTTCCTTCCTTCCTTCCTTCCTTCCT CCCT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20129529	A A	ATATATAT others(25): Show ATATATATATATACACATACACATATATATGTG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01258.hp1 HG01261.hp2 others(12): Show HG01168.hp2 HG01258.hp1 HG01261.hp2 HG01516.hp1 HG01516.hp2 HG01975.hp1 HG01978.hp2 HG02055.hp2 HG02129.hp1 HG02300.hp2 HG03491.hp2 HG03669.hp2 HG03688.hp2 HG04115.hp2 HG04204.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0003 a0001c0001t0014 a0001c0001t0021 others(11): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0021 a0001c0001t0033 a0001c0001t0058 a0001c0001t0089 a0001c0001t0096 a0001c0001t0100 a0001c0001t0117 a0002c0002t0002 a0002c0002t0005 a0002c0002t0083 a0004c0004t0040 a0004c0004t0076	a0001c0001t0003g0027 a0001c0001t0003g0123 a0001c0001t0014g0085 others(12): Show a0001c0001t0003g0027 a0001c0001t0003g0123 a0001c0001t0014g0085 a0001c0001t0021g0101 a0001c0001t0033g0127 a0001c0001t0058g0041 a0001c0001t0089g0099 a0001c0001t0096g0082 a0001c0001t0100g0117 a0001c0001t0117g0060 a0002c0002t0002g0112 a0002c0002t0005g0113 a0002c0002t0083g0077 a0004c0004t0040g0007 a0004c0004t0076g0129	15	180	0.0833	32	c.542 others(51): Show c.542-13756_542-13755insTACACATACACATATATATGTGTATA TATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20238668	T T	TATATATA others(25): Show TATATATATGTATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0142 a0001c0001t0004g0142	1	180	0.0056	32	c.131 others(51): Show c.1313-6646_1313-6645insCATATATATGTATATATATATATATA CACACA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20238668	T T	TATATATA others(25): Show TATATATATGTATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00642.hp1 others(50): Show HG00323.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01258.hp1 HG01261.hp2 HG01516.hp1 HG01884.hp1 HG01978.hp2 HG02055.hp1 HG02129.hp1 HG02145.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18959.hp2 NA18964.hp2 NA18965.hp2 NA18978.hp1 NA18982.hp1 NA19084.hp2 NA19090.hp2 NA19091.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(37): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0021 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0050 a0001c0001t0051 a0001c0001t0054 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0062 a0001c0001t0070 a0001c0001t0075 a0001c0001t0086 a0001c0001t0095 a0001c0001t0096 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0102 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0121 a0001c0001t0125 a0001c0005t0056 a0001c0005t0118 a0001c0005t0119 a0002c0002t0004 a0005c0006t0027 a0005c0006t0129	a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0152 others(50): Show a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0152 a0001c0001t0003g0027 a0001c0001t0003g0123 a0001c0001t0003g0163 a0001c0001t0003g0168 a0001c0001t0003g0178 a0001c0001t0004g0096 a0001c0001t0004g0107 a0001c0001t0011g0145 a0001c0001t0011g0146 a0001c0001t0013g0088 a0001c0001t0013g0089 a0001c0001t0014g0019 a0001c0001t0014g0085 a0001c0001t0015g0015 a0001c0001t0015g0164 a0001c0001t0021g0101 a0001c0001t0021g0120 a0001c0001t0025g0026 a0001c0001t0025g0067 a0001c0001t0027g0158 a0001c0001t0030g0001 a0001c0001t0031g0004 a0001c0001t0033g0127 a0001c0001t0050g0125 a0001c0001t0051g0179 a0001c0001t0054g0135 a0001c0001t0057g0162 a0001c0001t0058g0041 a0001c0001t0059g0150 a0001c0001t0062g0171 a0001c0001t0070g0005 a0001c0001t0075g0140 a0001c0001t0086g0097 a0001c0001t0095g0100 a0001c0001t0096g0082 a0001c0001t0098g0122 a0001c0001t0099g0118 a0001c0001t0100g0117 a0001c0001t0102g0109 a0001c0001t0115g0072 a0001c0001t0116g0052 a0001c0001t0117g0060 a0001c0001t0121g0068 a0001c0001t0125g0055 a0001c0005t0056g0023 a0001c0005t0118g0048 a0001c0005t0119g0042 a0002c0002t0004g0111 a0005c0006t0027g0160 a0005c0006t0129g0138	53	180	0.2944	32	c.131 others(51): Show c.1313-6652_1313-6651insTACACACATATATATGTATATATATA TATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA2_chr1_208017242_208249384	208209983	A A	AATTTTTT others(25): Show AATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0198 a0001c0009t0006g0198	1	312	0.0032	32	c.137 others(49): Show c.1371+296_1371+297insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAT	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31			chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132151497	G G	GAGGAGGA others(25): Show GAGGAGGAGGAGGAGAAAGGAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02622.hp2 HG02647.hp2 others(2): Show HG02055.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0028 a0001c0038	a0001c0001t0013 a0001c0002t0005 a0001c0006t0005 others(2): Show a0001c0001t0013 a0001c0002t0005 a0001c0006t0005 a0001c0028t0005 a0001c0038t0005	a0001c0001t0013g0033 a0001c0002t0005g0071 a0001c0006t0005g0061 others(2): Show a0001c0001t0013g0033 a0001c0002t0005g0071 a0001c0006t0005g0061 a0001c0028t0005g0073 a0001c0038t0005g0011	5	88	0.0568	32	c.466 others(51): Show c.4661-2883_4661-2852dupTTCTCCTCCTCCTCCTTTCTCCTCCT CCTCCT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	25/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132151577	A A	AAGGAGGA others(25): Show AAGGAGGAGGAGGAGAAAGGAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0003 a0001c0021t0003	a0001c0021t0003g0070 a0001c0021t0003g0070	1	88	0.0114	32	c.466 others(51): Show c.4661-2932_4661-2931insTTCTCCTCCTCCTCCTTTCTCCTCCT CCTCCT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	25/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132188998	G G	GGAGAGGA others(25): Show GGAGAGGAGAGGAGAGGAGAGGAGAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0005 a0001c0038t0005	a0001c0038t0005g0011 a0001c0038t0005g0011	1	88	0.0114	32	c.285 others(51): Show c.2857-1392_2857-1391insTCCTTTCCTCTCCTCTCCTCTCCTCT CCTCTC	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	14/31			chr7	TogoVar
PM20D1_chr1_205823025_205855132	205853436	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01106.hp2 HG01261.hp1 others(8): Show HG00597.hp2 HG01106.hp2 HG01261.hp1 HG01261.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG03098.hp1 NA18957.hp1 NA18969.hp1 NA19056.hp2	a0002 a0004 a0009 others(1): Show a0002 a0004 a0009 a0017	a0002c0001 a0004c0005 a0004c0030 others(2): Show a0002c0001 a0004c0005 a0004c0030 a0009c0018 a0017c0024	a0002c0001t0001 a0002c0001t0002 a0004c0005t0002 others(3): Show a0002c0001t0001 a0002c0001t0002 a0004c0005t0002 a0004c0030t0002 a0009c0018t0001 a0017c0024t0002	a0002c0001t0001g0149 a0002c0001t0002g0001 a0002c0001t0002g0030 others(8): Show a0002c0001t0001g0149 a0002c0001t0002g0001 a0002c0001t0002g0030 a0002c0001t0002g0107 a0002c0001t0002g0147 a0002c0001t0002g0157 a0002c0001t0002g0164 a0004c0005t0002g0005 a0004c0030t0002g0167 a0009c0018t0001g0119 a0017c0024t0002g0025	11	416	0.0264	32	c.-33 others(43): Show c.-3365_-3364insATATATATATATATATATATATATATATATAT	PM20D1	ENSG00000162877.13	transcript	ENST00000367136.5	protein_coding		3305		chr1	TogoVar
PML_chr15_73989716_74052827	74002335	G G	GTATATAT others(25): Show GTATATATGCATATATCTATATGTATATATCCA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	2	342	0.0059	32	c.602 others(49): Show c.602+3868_602+3899dupCATATATCTATATGTATATATCCATATA TATG	PML	ENSG00000140464.20	transcript	ENST00000268058.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PMM2_chr16_8792839_8854325	8852917	G G	GCCCCCCC others(25): Show GCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	408	0.0025	32	c.50 others(43): Show c.5092_*5093insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding		3593		chr16	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0042 a0010c0014t0042	a0010c0014t0042g0095 a0010c0014t0042g0095	1	408	0.0025	32	c.-95 others(41): Show c.-956_-955insATATATATATATATATATATATTTTTTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0080 a0001c0003t0001g0080	1	408	0.0025	32	c.-95 others(41): Show c.-956_-955insATATATATATATATATATATATATTTTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 NA18906.hp1 HG02293.hp2 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0020 a0001c0003 a0003c0020	a0001c0003t0001 a0003c0020t0055 a0001c0003t0001 a0003c0020t0055	a0001c0003t0001g0088 a0003c0020t0055g0367 a0001c0003t0001g0088 a0003c0020t0055g0367	2	408	0.0049	32	c.-95 others(41): Show c.-956_-955insATATATATATATATATATATATATATTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAATATA others(25): Show AAAATATACATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0385 a0003c0004t0004g0385	1	408	0.0025	32	c.-95 others(41): Show c.-956_-955insATATATATATATATATATATATATGTATATTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AATATACA others(25): Show AATATACATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0004 a0011c0018t0004	a0011c0018t0004g0348 a0011c0018t0004g0348	1	408	0.0025	32	c.-95 others(41): Show c.-956_-955insATATATATATATATATATATATATATGTATAT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PNISR_chr6_99393050_99430308	99422699	C C	CCACCTCC others(25): Show CCACCTCCTTCACCCCAGTCCCAGACCAGACGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	406	0.0025	32	c.-11 others(51): Show c.-112+2515_-112+2516insTCGTCTGGTCTGGGACTGGGGTGAAG GAGGTG	PNISR	ENSG00000132424.17	transcript	ENST00000369239.10	protein_coding	1/11			chr6	TogoVar
PNKD_chr2_218265519_218351793	218315057	T T	TCTTTCTT others(25): Show TCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03453.hp1 HG03490.hp1 others(4): Show HG01257.hp2 HG03453.hp1 HG03490.hp1 NA18612.hp1 NA18941.hp1 NA19070.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0196 a0001c0001t0001g0213 a0001c0001t0002g0169 others(4): Show a0001c0001t0001g0196 a0001c0001t0001g0213 a0001c0001t0002g0169 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0004g0194 a0001c0001t0004g0198	7	280	0.0250	32	c.237 others(51): Show c.237-24723_237-24722insTCTTTCTTTCTTTCTTCCTTCCTTCC TTCCTT	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNKD_chr2_218265519_218351793	218315057	T T	TCTTTCTT others(25): Show TCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp1 HG01346.hp1 others(9): Show HG00323.hp1 HG01074.hp1 HG01346.hp1 HG01516.hp1 HG01975.hp2 HG02145.hp1 HG02273.hp1 HG02602.hp2 HG04199.hp2 NA18978.hp1 NA19043.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0005t0002	a0001c0001t0002g0180 a0001c0001t0002g0188 a0001c0001t0002g0192 others(9): Show a0001c0001t0002g0180 a0001c0001t0002g0188 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0208 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0005g0253 a0001c0001t0005g0258 a0001c0001t0006g0179 a0001c0001t0008g0166 a0001c0005t0002g0221	12	280	0.0429	32	c.237 others(51): Show c.237-24723_237-24722insTCTTTCTTTCTTTCTTTCTTCCTTCC TTCCTT	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNKD_chr2_218265519_218351793	218315057	T T	TCTTTCTT others(25): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA19005.hp2 NA18967.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0178 a0001c0001t0002g0170 a0001c0001t0002g0178	2	280	0.0071	32	c.237 others(51): Show c.237-24723_237-24722insTCTTTCTTTCTTTCTTTCTTTCTTCC TTCCTT	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNMA5_chrX_152983824_152999116	152998601	A A	ATATATGT others(25): Show ATATATGTTATATATATTATATATATTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02895.hp1 HG02451.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	2	286	0.0070	32	c.-48 others(43): Show c.-4899_-4898insATATATAATATATATAATATATATAACATATA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4486		chrX	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)