Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PLEKHM3_chr2_207816288_208030527	207865801	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	200	0.0050	36	c.195 others(55): Show c.1951-4540_1951-4539insATATATATATATATATATATTTTTTT TTTTTTTTTT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	6/7			chr2	TogoVar
PLEKHS1_chr10_113746682_113788429	113785313	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	402	0.0025	36	c.45 others(47): Show c.4532_*4533insATATATATATATATATATATATATATATATATAT AT	PLEKHS1	ENSG00000148735.16	transcript	ENST00000694986.1	protein_coding		1885		chr10	TogoVar
PLGRKT_chr9_5352971_5442925	5424691	T T	TATATATA others(29): Show TATATATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	414	0.0024	36	c.81+ others(51): Show c.81+7205_81+7206insGTGTGTGTGTATATATATATATATATATAT ATATAT	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5			chr9	TogoVar
PLGRKT_chr9_5352971_5442925	5424691	T T	TATATATA others(29): Show TATATATATATATATATATATATATATACACATACAC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19068.hp2 NA18942.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0361 a0001c0001t0001g0375 a0001c0001t0001g0361 a0001c0001t0001g0375	2	414	0.0048	36	c.81+ others(51): Show c.81+7205_81+7206insGTGTATGTGTATATATATATATATATATAT ATATAT	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5			chr9	TogoVar
PLG_chr6_160697244_160759097	160748348	A A	AAGAGAAA others(29): Show AAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00741.hp2 others(27): Show HG00423.hp1 HG00609.hp1 HG00741.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp2 HG02004.hp1 HG02055.hp1 HG02273.hp1 HG02735.hp1 HG03486.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18954.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18975.hp2 NA18977.hp1 NA18983.hp1 NA19002.hp1 NA19010.hp2 NA19012.hp2 NA19060.hp1 NA19063.hp1 NA19088.hp1 NA19090.hp2 NA20129.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0017 a0001c0001 a0001c0002 a0008c0017	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0008c0017t0006	a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0022 others(21): Show a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0091 a0001c0001t0001g0119 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0001g0192 a0001c0001t0001g0215 a0001c0001t0001g0259 a0001c0001t0001g0313 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0006g0188 a0001c0002t0001g0009 a0001c0002t0001g0052 a0001c0002t0001g0124 a0001c0002t0001g0158 a0001c0002t0001g0163 a0001c0002t0001g0212 a0008c0017t0006g0014	30	384	0.0781	36	c.212 others(55): Show c.2126-3738_2126-3737insGAGAGAGAGAGAAAGAAAGAAAGAAA GAAAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748348	A A	AAGAGAAA others(29): Show AAGAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA18963.hp2 HG01517.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0071 a0001c0011t0001g0232 a0001c0001t0001g0071 a0001c0011t0001g0232	2	384	0.0052	36	c.212 others(55): Show c.2126-3742_2126-3741insGAGAGAGAGAGAGAGAAAGAAAGAAA GAAAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748350	G G	GAGAAAGA others(29): Show GAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02895.hp1 HG02886.hp1 HG02895.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0024 a0001c0013t0001g0024	2	384	0.0052	36	c.212 others(55): Show c.2126-3746_2126-3745insGAGAGAGAGAGAGAGAAAGAAAGAAA GAAAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748354	A A	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG00741.hp1 others(4): Show HG00544.hp1 HG00639.hp2 HG00741.hp1 HG01074.hp2 HG01261.hp2 HG02735.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0247 a0001c0001t0001g0273 a0001c0002t0001g0144 others(4): Show a0001c0001t0001g0247 a0001c0001t0001g0273 a0001c0002t0001g0144 a0001c0002t0001g0162 a0001c0003t0001g0153 a0001c0003t0001g0261 a0001c0003t0001g0289	7	384	0.0182	36	c.212 others(55): Show c.2126-3738_2126-3737insGAGAGAGAGAGAGAGAAAGAAAGAAA GAAAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLK3_chr1_44795377_44810990	44795596	T T	TATATATA others(29): Show TATATATAAATATATAAATATATATAAATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG03139.hp2 HG02257.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	384	0.0052	36	c.-48 others(47): Show c.-4868_-4867insATATATAAATATATAAATATATATAAATATATAT AA	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		4780		chr1	TogoVar
PLK3_chr1_44795377_44810990	44795678	T T	TATATATA others(29): Show TATATATAAATATATAAATATATATAAATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18944.hp2 NA18977.hp1 others(3): Show NA18941.hp1 NA18944.hp2 NA18977.hp1 NA18978.hp1 NA18988.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0004 a0001c0001t0001g0005	6	384	0.0156	36	c.-47 others(47): Show c.-4786_-4785insATATATAAATATATAAATATATATAAATATATAT AA	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		4698		chr1	TogoVar
PLK3_chr1_44795377_44810990	44795680	T T	TATATAAA others(29): Show TATATAAATATATAAATAGTATATAAATATAGTATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	384	0.0026	36	c.-47 others(47): Show c.-4784_-4783insATATAAATATATAAATAGTATATAAATATAGTAT AA	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		4696		chr1	TogoVar
PLK3_chr1_44795377_44810990	44795776	T T	TATATAAA others(29): Show TATATAAATATATATAAATATATATAAATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG02647.hp2 others(6): Show HG01884.hp2 HG02451.hp2 HG02647.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0028 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0028	9	384	0.0234	36	c.-46 others(47): Show c.-4688_-4687insATATAAATATATATAAATATATATAAATATATAT AA	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		4600		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	384	0.0026	36	c.-24 others(47): Show c.-2481_-2480insAAAAAAAAAAAAAAATATATATATATATATATAT AT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA19004.hp2 NA18941.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	384	0.0052	36	c.-24 others(47): Show c.-2481_-2480insAAAAAAAAAAAAATATATATATATATATATATAT AT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(29): Show AAAAAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	384	0.0026	36	c.-24 others(47): Show c.-2481_-2480insAAAAAAAAATATATATATATATATATATATATAT AT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(29): Show AAAAAAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	384	0.0026	36	c.-24 others(47): Show c.-2481_-2480insAAAAAAATATATATATATATATATATATATATAT AT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK4_chr4_127875893_127904224	127895452	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0207 a0003c0006t0001g0207	1	364	0.0028	36	c.270 others(53): Show c.2703+387_2703+388insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	PLK4	ENSG00000142731.11	transcript	ENST00000270861.10	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
PLOD1_chr1_11929717_11980537	11967597	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19084.hp1 HG02258.hp2 NA19084.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0001 a0003c0005t0001 a0001c0002t0001 a0003c0005t0001	a0001c0002t0001g0196 a0003c0005t0001g0074 a0001c0002t0001g0196 a0003c0005t0001g0074	2	380	0.0053	36	c.175 others(53): Show c.1755+524_1755+525insTATATATATATATATATATATATATATA TATATATA	PLOD1	ENSG00000083444.17	transcript	ENST00000196061.5	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLPP3_chr1_56489761_56584563	56518715	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0006 a0001c0003t0012g0006	1	336	0.0030	36	c.633 others(53): Show c.633+5107_633+5108insTATATATATATATATATATATATATATA TATATATA	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	4/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557008	A A	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0265 a0001c0002t0001g0265	1	336	0.0030	36	c.140 others(55): Show c.140-19897_140-19896insCTCTCTCTCTCTTTCTTTCTTTCTTT CTTTCTTTCT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557048	G G	GAGAAAGA others(29): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18971.hp2 NA20805.hp1 HG04115.hp1 NA18971.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0008 a0001c0003t0004 a0001c0001t0001 a0001c0001t0008 a0001c0003t0004	a0001c0001t0001g0287 a0001c0001t0008g0002 a0001c0003t0004g0024 a0001c0001t0001g0287 a0001c0001t0008g0002 a0001c0003t0004g0024	3	336	0.0089	36	c.140 others(55): Show c.140-19937_140-19936insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557052	G G	GAGAAAGA others(29): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	336	0.0030	36	c.140 others(55): Show c.140-19941_140-19940insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPPR1_chr9_101023727_101330135	101078087	G G	GAGGAGAA others(29): Show GAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0176 a0001c0001t0011g0176	1	203	0.0049	36	c.-46 others(55): Show c.-46+49005_-46+49006insGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAG	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR1_chr9_101023727_101330135	101078102	G G	GAGAAGGA others(29): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	203	0.0049	36	c.-46 others(55): Show c.-46+49005_-46+49006insGAGAAGGAGAAGGAGAAGGAGAAGAA GAAGAAGAAG	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR1_chr9_101023727_101330135	101078102	G G	GAGAAGGA others(29): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	203	0.0049	36	c.-46 others(55): Show c.-46+49005_-46+49006insGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGAAGAAG	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR5_chr1_98885245_99009861	98928548	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0004	1	280	0.0036	36	c.622 others(53): Show c.622-6491_622-6490insATATATATATATATATATATATATATAT ATATATAT	PLPPR5	ENSG00000117598.14	transcript	ENST00000263177.5	protein_coding	3/5			chr1	TogoVar
PLSCR3_chr17_7384727_7399525	7385798	C C	CAAATGAT others(29): Show CAAATGATCCACCTGCCTTGGCCTCCCAAAGTGTTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	454	0.0022	36	c.45 others(47): Show c.4551_*4586dupCCAACACTTTGGGAGGCCAAGGCAGGTGGATCAT TT	PLSCR3	ENSG00000187838.17	transcript	ENST00000619711.5	protein_coding		3928		chr17	TogoVar
PLVAP_chr19_17346455_17382342	17349153	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	436	0.0023	36	c.32 others(47): Show c.3208_*3209insGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAA AG	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2301		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17349157	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	436	0.0023	36	c.32 others(47): Show c.3204_*3205insGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAA AG	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2297		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382272	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 NA19007.hp1 HG01891.hp2 NA19007.hp1	a0004 a0008 a0004 a0008	a0004c0004 a0008c0005 a0004c0004 a0008c0005	a0004c0004t0001 a0008c0005t0001 a0004c0004t0001 a0008c0005t0001	a0004c0004t0001g0398 a0008c0005t0001g0392 a0004c0004t0001g0398 a0008c0005t0001g0392	2	436	0.0046	36	c.-49 others(47): Show c.-4985_-4984insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4931		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382276	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	436	0.0023	36	c.-49 others(47): Show c.-4989_-4988insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4935		chr19	TogoVar
PLXDC1_chr17_39058313_39156637	39128097	G G	GTGTGTGT others(29): Show GTGTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	320	0.0031	36	c.255 others(55): Show c.255+11556_255+11557insTATATATATATATATATATATATATA TATACACACA	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXDC1_chr17_39058313_39156637	39129688	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00741.hp2 HG01109.hp1 others(14): Show HG00621.hp2 HG00741.hp2 HG01109.hp1 HG01123.hp1 HG01256.hp1 HG01258.hp2 HG02293.hp1 HG02647.hp1 HG02818.hp2 HG03579.hp1 HG03927.hp2 NA18942.hp2 NA18970.hp2 NA18982.hp1 NA18989.hp1 NA19009.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0014 a0001c0001t0017 a0001c0002t0002 a0001c0002t0005 a0001c0002t0020 a0001c0002t0037 a0002c0003t0008 a0002c0003t0046	a0001c0001t0001g0167 a0001c0001t0001g0227 a0001c0001t0003g0182 others(14): Show a0001c0001t0001g0167 a0001c0001t0001g0227 a0001c0001t0003g0182 a0001c0001t0003g0208 a0001c0001t0010g0179 a0001c0001t0014g0209 a0001c0001t0017g0094 a0001c0002t0002g0004 a0001c0002t0002g0177 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0212 a0001c0002t0005g0215 a0001c0002t0020g0228 a0001c0002t0037g0006 a0002c0003t0008g0110 a0002c0003t0046g0020	17	320	0.0531	36	c.255 others(53): Show c.255+9965_255+9966insCTTTCTTTCCTTCTTTCTTTCTTTCTTT CTTTCTTT	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXDC1_chr17_39058313_39156637	39129711	G G	GGAAAGAA others(29): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp1 HG01168.hp2 others(35): Show HG00621.hp1 HG00673.hp1 HG01168.hp2 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02129.hp2 HG02523.hp1 HG02622.hp1 HG02630.hp2 HG02809.hp1 HG03041.hp2 HG03130.hp1 HG03225.hp1 HG03492.hp2 HG03831.hp2 HG04199.hp1 HG04204.hp2 NA18939.hp1 NA18941.hp1 NA18947.hp1 NA18948.hp1 NA18957.hp2 NA18962.hp1 NA18970.hp1 NA18974.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18986.hp1 NA18989.hp2 NA19003.hp1 NA19009.hp2 NA19066.hp2 NA19067.hp2 NA19074.hp2 NA19082.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0050 a0001c0002t0002 a0001c0002t0023 a0001c0002t0035 a0001c0004t0007 a0001c0004t0013 a0001c0004t0028 a0002c0003t0045	a0001c0001t0001g0008 a0001c0001t0001g0118 a0001c0001t0001g0127 others(35): Show a0001c0001t0001g0008 a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0150 a0001c0001t0001g0203 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0003g0245 a0001c0001t0003g0247 a0001c0001t0004g0074 a0001c0001t0004g0134 a0001c0001t0011g0288 a0001c0001t0011g0296 a0001c0001t0012g0299 a0001c0001t0014g0076 a0001c0001t0016g0088 a0001c0001t0016g0093 a0001c0001t0050g0015 a0001c0002t0002g0135 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0202 a0001c0002t0002g0272 a0001c0002t0023g0310 a0001c0002t0035g0136 a0001c0004t0007g0120 a0001c0004t0007g0121 a0001c0004t0007g0144 a0001c0004t0007g0145 a0001c0004t0007g0146 a0001c0004t0007g0147 a0001c0004t0007g0148 a0001c0004t0007g0149 a0001c0004t0013g0124 a0001c0004t0013g0125 a0001c0004t0013g0157 a0001c0004t0028g0307 a0002c0003t0045g0278	38	320	0.1188	36	c.255 others(53): Show c.255+9942_255+9943insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXDC2_chr10_19811432_20294856	19937544	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0125 a0001c0001t0125	a0001c0001t0125g0055 a0001c0001t0125g0055	1	180	0.0056	36	c.113 others(55): Show c.113-64227_113-64192dupATATATATATATATATATATATATAT ATATATATAT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20044122	T T	TCCTTCCT others(29): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01123.hp1 HG02965.hp1 others(6): Show HG01109.hp1 HG01123.hp1 HG02965.hp1 HG03098.hp1 HG03195.hp2 HG03491.hp1 HG03492.hp1 HG03704.hp1 NA18965.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0013 a0001c0001t0028 a0001c0001t0069 others(5): Show a0001c0001t0013 a0001c0001t0028 a0001c0001t0069 a0001c0001t0072 a0001c0001t0099 a0002c0002t0064 a0002c0002t0093 a0003c0003t0105	a0001c0001t0013g0088 a0001c0001t0013g0089 a0001c0001t0028g0161 others(6): Show a0001c0001t0013g0088 a0001c0001t0013g0089 a0001c0001t0028g0161 a0001c0001t0069g0169 a0001c0001t0072g0062 a0001c0001t0099g0118 a0002c0002t0064g0021 a0002c0002t0093g0119 a0003c0003t0105g0087	9	180	0.0500	36	c.325 others(53): Show c.325-2744_325-2743insTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTCCCT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA2_chr1_208017242_208249384	208209983	A A	AATTTTTT others(29): Show AATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0094 a0003c0023t0094	a0003c0023t0094g0284 a0003c0023t0094g0284	1	312	0.0032	36	c.137 others(53): Show c.1371+296_1371+297insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAT	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31			chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132188996	G G	GAGGAGAG others(29): Show GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0017 a0001c0030t0017	a0001c0030t0017g0065 a0001c0030t0017g0065	1	88	0.0114	36	c.285 others(55): Show c.2857-1390_2857-1389insTTTCCTTTCCTCTCCTCTCCTCTCCT CTCCTCTCCT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	14/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132188997	A A	AGGAAAGG others(29): Show AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	88	0.0114	36	c.285 others(55): Show c.2857-1391_2857-1390insCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCC	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	14/31			chr7	TogoVar
PLXNB2_chr22_50269979_50312646	50307773	G G	GGAGGGGG others(29): Show GGAGGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0012 a0005c0016t0012	a0005c0016t0012g0256 a0005c0016t0012g0256	1	302	0.0033	36	c.-29 others(45): Show c.-295_-294insTTCCCCCTCCCCCTCTTCCCCCTCCCCTCCCCCCTC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		128		chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50307773	G G	GGAGGGGG others(29): Show GGAGGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0026 a0004c0026	a0004c0026t0003 a0004c0026t0003	a0004c0026t0003g0123 a0004c0026t0003g0123	1	302	0.0033	36	c.-29 others(45): Show c.-295_-294insTCCCCCCTCCCCCTCTTCCCCCTCCCCTCCCCCCTC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		128		chr22	TogoVar
PM20D1_chr1_205823025_205855132	205853436	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00642.hp2 HG00673.hp1 others(4): Show HG00408.hp2 HG00642.hp2 HG00673.hp1 HG01167.hp1 HG01243.hp1 HG01433.hp1 HG01433.hp2	a0002 a0004 a0009 others(3): Show a0002 a0004 a0009 a0011 a0012 a0013	a0002c0001 a0004c0005 a0009c0011 others(3): Show a0002c0001 a0004c0005 a0009c0011 a0011c0014 a0012c0023 a0013c0022	a0002c0001t0002 a0004c0005t0002 a0009c0011t0002 others(3): Show a0002c0001t0002 a0004c0005t0002 a0009c0011t0002 a0011c0014t0001 a0012c0023t0002 a0013c0022t0002	a0002c0001t0002g0033 a0004c0005t0002g0005 a0004c0005t0002g0029 others(4): Show a0002c0001t0002g0033 a0004c0005t0002g0005 a0004c0005t0002g0029 a0009c0011t0002g0150 a0011c0014t0001g0026 a0012c0023t0002g0174 a0013c0022t0002g0139	7	416	0.0168	36	c.-33 others(47): Show c.-3365_-3364insATATATATATATATATATATATATATATATATAT AT	PM20D1	ENSG00000162877.13	transcript	ENST00000367136.5	protein_coding		3305		chr1	TogoVar
PM20D1_chr1_205823025_205855132	205853447	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02004.hp2 HG03130.hp2 others(1): Show HG01891.hp1 HG02004.hp2 HG03130.hp2 HG03139.hp1	a0002 a0004 a0002 a0004	a0002c0009 a0004c0005 a0002c0009 a0004c0005	a0002c0009t0001 a0004c0005t0002 a0002c0009t0001 a0004c0005t0002	a0002c0009t0001g0015 a0002c0009t0001g0113 a0004c0005t0002g0114 a0002c0009t0001g0015 a0002c0009t0001g0113 a0004c0005t0002g0114	4	416	0.0096	36	c.-33 others(47): Show c.-3376_-3375insCATATATATATATATATATATATATATATATATA TA	PM20D1	ENSG00000162877.13	transcript	ENST00000367136.5	protein_coding		3316		chr1	TogoVar
PMM1_chr22_41571900_41594840	41594335	G G	GGGTGGGG others(29): Show GGGTGGGGGGGTGGGGGGGTGGGGGGGTGGGGGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	330	0.0030	36	c.-45 others(47): Show c.-4531_-4530insGCCTCCCCCACCCCCCCACCCCCCCACCCCCCCA CC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4496		chr22	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(29): Show AAAAAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01346.hp1 HG00642.hp1 HG00735.hp1 HG01346.hp1	a0001 a0003 a0025 a0001 a0003 a0025	a0001c0003 a0003c0004 a0025c0040 a0001c0003 a0003c0004 a0025c0040	a0001c0003t0001 a0003c0004t0012 a0025c0040t0001 a0001c0003t0001 a0003c0004t0012 a0025c0040t0001	a0001c0003t0001g0071 a0003c0004t0012g0110 a0025c0040t0001g0093 a0001c0003t0001g0071 a0003c0004t0012g0110 a0025c0040t0001g0093	3	408	0.0074	36	c.-95 others(45): Show c.-956_-955insATATATATATATATATATATATATATATTTTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(29): Show AAAAAAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01433.hp2 HG02155.hp1 HG01175.hp1 HG01433.hp2 HG02155.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0001 a0001c0003t0050 a0003c0004t0012 a0001c0003t0001 a0001c0003t0050 a0003c0004t0012	a0001c0003t0001g0067 a0001c0003t0050g0077 a0003c0004t0012g0112 a0001c0003t0001g0067 a0001c0003t0050g0077 a0003c0004t0012g0112	3	408	0.0074	36	c.-95 others(45): Show c.-956_-955insATATATATATATATATATATATATATATATTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0089 a0001c0003t0001g0089	1	408	0.0025	36	c.-95 others(45): Show c.-956_-955insATATATATATATATATATATATATATATATATTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAATATA others(29): Show AAAATATACATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0003 a0003c0004t0004g0003	1	408	0.0025	36	c.-95 others(45): Show c.-956_-955insATATATATATATATATATATATATATATGTATATTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AATATATA others(29): Show AATATATACATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0003 a0003c0004t0004g0003	1	408	0.0025	36	c.-95 others(45): Show c.-956_-955insATATATATATATATATATATATATATATGTATATAT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PNKD_chr2_218265519_218351793	218315057	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0249 a0001c0001t0005g0249	1	280	0.0036	36	c.237 others(55): Show c.237-24723_237-24722insTCTTTCTTTCTTTCTTCCTTCCTTCC TTCCTTCCTT	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar

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