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
PLEKHG1_chr6_150594885_150848665	150763024	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	272	0.0037	25	c.412 others(42): Show c.412-5594_412-5593insTTTTTTTTTTTTTTTTTTTTTTTTT	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG1_chr6_150594885_150848665	150804175	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0270 a0001c0002t0006g0270	1	272	0.0037	25	c.781 others(40): Show c.781-434_781-433insATATATATATATATATATATATATT	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG1_chr6_150594885_150848665	150804176	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0018 a0001c0026t0018	a0001c0026t0018g0015 a0001c0026t0018g0015	1	272	0.0037	25	c.781 others(40): Show c.781-434_781-433insATATATATATATATATATATATATA	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	7/16			chr6	TogoVar
PLEKHG3_chr14_64699424_64755249	64744771	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0060 a0002c0008t0060	a0002c0008t0060g0191 a0002c0008t0060g0191	1	248	0.0040	25	c.10 others(36): Show c.1088_*1089insTTTTTTTTTTTTTTTTTTTTTTTTT	PLEKHG3	ENSG00000126822.18	transcript	ENST00000247226.13	protein_coding	17/17	1089	INFO_REALIGN_3_PRIME	chr14	TogoVar
PLEKHG4B_chr5_87168_194966	92336	C C	CGGGTGGG others(18): Show CGGGTGGGGGCGCCGGGGTAGGGGCG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02145.hp2 HG02486.hp1 others(2): Show HG01261.hp2 HG02145.hp2 HG02486.hp1 HG02896.hp2 NA19043.hp2	a0006 a0008 a0006 a0008	a0006c0070 a0006c0073 a0008c0024 others(1): Show a0006c0070 a0006c0073 a0008c0024 a0008c0025	a0006c0070t0054 a0006c0073t0020 a0008c0024t0021 others(2): Show a0006c0070t0054 a0006c0073t0020 a0008c0024t0021 a0008c0025t0045 a0008c0025t0069	a0006c0070t0054g0207 a0006c0073t0020g0193 a0008c0024t0021g0176 others(2): Show a0006c0070t0054g0207 a0006c0073t0020g0193 a0008c0024t0021g0176 a0008c0025t0045g0172 a0008c0025t0069g0174	5	210	0.0238	25	c.45+ others(36): Show c.45+72_45+73insCGGGGTAGGGGCGGGGTGGGGGCGC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	92448	C C	CGGGTGGG others(18): Show CGGGTGGGGGCGCGGGGGTAGGGGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0003 a0016c0018t0003	a0016c0018t0003g0005 a0016c0018t0003g0005	1	210	0.0048	25	c.45+ others(38): Show c.45+184_45+185insGGGGGTAGGGGTGGGGTGGGGGCGC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG5_chr1_6462122_6496667	6479473	A A	AGATGGGG others(18): Show AGATGGGGTTTCACCGTGTTAGCCAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0047 a0006c0005t0002g0047	1	288	0.0035	25	c.-87 others(42): Show c.-87-1840_-87-1816dupCTGGCTAACACGGTGAAACCCCATC	PLEKHG5	ENSG00000171680.23	transcript	ENST00000377728.8	protein_coding	1/20			chr1	TogoVar
PLEKHH2_chr2_43632260_43772987	43636568	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 homoSapiens_chm13v2.hp1 HG01978.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0188 a0001c0003t0001g0216 a0001c0003t0001g0188 a0001c0003t0001g0216	2	256	0.0078	25	c.-81 others(34): Show c.-815_-814insTATATATATATATATATATATATAT	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding		691		chr2	TogoVar
PLEKHH2_chr2_43632260_43772987	43636568	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG02055.hp1 HG01074.hp2 HG02055.hp1	a0002 a0016 a0002 a0016	a0002c0011 a0016c0029 a0002c0011 a0016c0029	a0002c0011t0008 a0016c0029t0003 a0002c0011t0008 a0016c0029t0003	a0002c0011t0008g0145 a0016c0029t0003g0161 a0002c0011t0008g0145 a0016c0029t0003g0161	2	256	0.0078	25	c.-81 others(34): Show c.-815_-814insTATATATATATATATATATATATTT	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding		691		chr2	TogoVar
PLEKHH2_chr2_43632260_43772987	43636568	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA20805.hp2 NA18522.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0011 a0001c0003 a0002c0011	a0001c0003t0001 a0002c0011t0008 a0001c0003t0001 a0002c0011t0008	a0001c0003t0001g0154 a0002c0011t0008g0120 a0001c0003t0001g0154 a0002c0011t0008g0120	2	256	0.0078	25	c.-81 others(34): Show c.-815_-814insTATATATATATATATATATATTTTT	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding		691		chr2	TogoVar
PLEKHH2_chr2_43632260_43772987	43636568	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 NA18906.hp1 HG03017.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0012 a0001c0002 a0003c0012	a0001c0002t0002 a0003c0012t0004 a0001c0002t0002 a0003c0012t0004	a0001c0002t0002g0219 a0003c0012t0004g0177 a0001c0002t0002g0219 a0003c0012t0004g0177	2	256	0.0078	25	c.-81 others(34): Show c.-815_-814insTATATATATATATATATATTTTTTT	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding		691		chr2	TogoVar
PLEKHH2_chr2_43632260_43772987	43636569	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG02109.hp1 HG03516.hp1 HG01168.hp2 HG02109.hp1 HG03516.hp1	a0002 a0005 a0007 a0002 a0005 a0007	a0002c0011 a0005c0008 a0007c0014 a0002c0011 a0005c0008 a0007c0014	a0002c0011t0008 a0005c0008t0002 a0007c0014t0001 a0002c0011t0008 a0005c0008t0002 a0007c0014t0001	a0002c0011t0008g0119 a0005c0008t0002g0255 a0007c0014t0001g0184 a0002c0011t0008g0119 a0005c0008t0002g0255 a0007c0014t0001g0184	3	256	0.0117	25	c.-81 others(34): Show c.-814_-813insATATATATATATATATATATATATA	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding		690		chr2	TogoVar
PLEKHM1_chr17_45430900_45495721	45447589	C C	CCAGCCAG others(18): Show CCAGCCAGGCCTCAGCACCAGTGGGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0086 a0001c0001t0008g0086	1	325	0.0031	25	c.264 others(44): Show c.2644-1951_2644-1927dupACCCACTGGTGCTGAGGCCTGGCTG	PLEKHM1	ENSG00000225190.12	transcript	ENST00000430334.8	protein_coding	8/11			chr17	TogoVar
PLEKHM3_chr2_207816288_208030527	208024142	C C	CAAAATAA others(18): Show CAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03579.hp2 HG02486.hp1 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0056 a0001c0003t0057 a0001c0003t0056 a0001c0003t0057	a0001c0003t0056g0192 a0001c0003t0057g0191 a0001c0003t0056g0192 a0001c0003t0057g0191	2	200	0.0100	25	c.-31 others(44): Show c.-319+1222_-319+1246dupATTTTATTTTATTTTATTTTATTTT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	1/7			chr2	TogoVar
PLEKHO2_chr15_64836915_64873002	64871410	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03130.hp2 HG03453.hp2 HG02818.hp1 HG03130.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0013 a0001c0001t0006g0014	3	322	0.0093	25	c.55 others(36): Show c.5522_*5523insATATATATATATATATATATATATA	PLEKHO2	ENSG00000241839.10	transcript	ENST00000323544.5	protein_coding		3409		chr15	TogoVar
PLET1_chr11_112243153_112265860	112261449	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 NA18999.hp2 NA19001.hp2 others(1): Show HG01496.hp1 NA18999.hp2 NA19001.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0103 a0001c0001t0001g0151 a0001c0001t0001g0006 a0001c0001t0001g0103 a0001c0001t0001g0151	4	368	0.0109	25	c.-86 others(34): Show c.-861_-860insCACACACACACACACACACACACAC	PLET1	ENSG00000188771.5	transcript	ENST00000338832.4	protein_coding		590		chr11	TogoVar
PLGLB1_chr2_87005224_87026844	87025338	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0052 a0001c0002t0015g0052	1	348	0.0029	25	c.-35 others(36): Show c.-3556_-3555insTTTTTTTTTTTTTTTTTTTTTTTTT	PLGLB1	ENSG00000183281.15	transcript	ENST00000355705.4	protein_coding		3495		chr2	TogoVar
PLGRKT_chr9_5352971_5442925	5371986	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	414	0.0024	25	c.82- others(42): Show c.82-10099_82-10098insAAAAAAAAAAAAAAAAAAAAAAAAA	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5			chr9	TogoVar
PLIN4_chr19_4497192_4523486	4509310	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01361.hp1 HG01361.hp2 others(16): Show HG01074.hp2 HG01361.hp1 HG01361.hp2 HG01952.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02258.hp2 HG02738.hp2 HG02895.hp1 HG03130.hp2 HG04115.hp2 HG04184.hp2 NA18940.hp1 NA18940.hp2 NA18999.hp2 NA19003.hp2 NA19082.hp1 NA20752.hp2	a0001 a0002 a0004 others(11): Show a0001 a0002 a0004 a0010 a0013 a0017 a0033 a0048 a0054 a0079 a0083 a0086 a0096 a0108	a0001c0001 a0002c0003 a0002c0006 others(12): Show a0001c0001 a0002c0003 a0002c0006 a0004c0004 a0010c0009 a0013c0148 a0017c0017 a0033c0034 a0048c0160 a0054c0145 a0079c0087 a0083c0083 a0086c0081 a0096c0140 a0108c0065	a0001c0001t0002 a0001c0001t0003 a0002c0003t0001 others(13): Show a0001c0001t0002 a0001c0001t0003 a0002c0003t0001 a0002c0006t0016 a0004c0004t0003 a0010c0009t0007 a0013c0148t0006 a0017c0017t0001 a0033c0034t0003 a0048c0160t0002 a0054c0145t0007 a0079c0087t0002 a0083c0083t0001 a0086c0081t0015 a0096c0140t0011 a0108c0065t0007	a0001c0001t0002g0226 a0001c0001t0003g0046 a0001c0001t0003g0227 others(15): Show a0001c0001t0002g0226 a0001c0001t0003g0046 a0001c0001t0003g0227 a0001c0001t0003g0275 a0002c0003t0001g0128 a0002c0006t0016g0050 a0004c0004t0003g0170 a0010c0009t0007g0089 a0013c0148t0006g0067 a0017c0017t0001g0263 a0033c0034t0003g0207 a0048c0160t0002g0267 a0054c0145t0007g0092 a0079c0087t0002g0179 a0083c0083t0001g0175 a0086c0081t0015g0115 a0096c0140t0011g0102 a0108c0065t0007g0081	19	412	0.0461	25	c.351 others(42): Show c.3515-356_3515-355insTTTTTTTTTTTTTTTTTTTTTTTTT	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/7			chr19	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	384	0.0026	25	c.-24 others(36): Show c.-2481_-2480insAAAAAAAAAAAATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLOD1_chr1_11929717_11980537	11941467	G G	GATTATTA others(18): Show GATTATTATTTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02970.hp2 HG03516.hp1 HG01109.hp2 HG02970.hp2 HG03516.hp1	a0002 a0007 a0002 a0007	a0002c0014 a0007c0023 a0002c0014 a0007c0023	a0002c0014t0004 a0007c0023t0002 a0002c0014t0004 a0007c0023t0002	a0002c0014t0004g0311 a0002c0014t0004g0312 a0007c0023t0002g0340 a0002c0014t0004g0311 a0002c0014t0004g0312 a0007c0023t0002g0340	3	380	0.0079	25	c.77- others(40): Show c.77-6500_77-6499insTATTATTATTATTATTATTATTATT	PLOD1	ENSG00000083444.17	transcript	ENST00000196061.5	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLOD1_chr1_11929717_11980537	11967615	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	380	0.0026	25	c.175 others(42): Show c.1755+524_1755+525insTATATATATATATATATATATATAT	PLOD1	ENSG00000083444.17	transcript	ENST00000196061.5	protein_coding	16/18			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56555433	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0125	1	336	0.0030	25	c.140 others(44): Show c.140-18346_140-18322dupTTTTTTTTTTTTTTTTTTTTTTTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557006	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAGGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	336	0.0030	25	c.140 others(44): Show c.140-19895_140-19894insTCTTTCTTTCCTTCTTTCTTTCTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPPR1_chr9_101023727_101330135	101267730	T T	TGGCTCAT others(18): Show TGGCTCATGCCTGTATAATCCTAGCA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0098 a0001c0001t0019g0098	1	203	0.0049	25	c.64- others(40): Show c.64-2149_64-2125dupGGCTCATGCCTGTATAATCCTAGCA	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR1_chr9_101023727_101330135	101316616	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03453.hp1 HG03139.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0042 a0001c0001t0004g0074 a0001c0001t0002g0042 a0001c0001t0004g0074	2	203	0.0099	25	c.814 others(40): Show c.814-737_814-736insAAAAAAAAAAAAAAAAAAAAAAAAA	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR5_chr1_98885245_99009861	98909237	T T	TTCCCTCC others(18): Show TTCCCTCCCTTCCCCTCCCTTCCCCC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0029 a0001c0001t0005g0029	1	280	0.0036	25	c.933 others(42): Show c.933+5524_933+5548dupGGGGGAAGGGAGGGGAAGGGAGGGA	PLPPR5	ENSG00000117598.14	transcript	ENST00000263177.5	protein_coding	5/5			chr1	TogoVar
PLPPR5_chr1_98885245_99009861	98920593	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp2 HG03139.hp2 others(2): Show HG02145.hp1 HG02723.hp2 HG03139.hp2 NA18990.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0029 a0001c0001t0032 others(1): Show a0001c0001t0016 a0001c0001t0029 a0001c0001t0032 a0001c0001t0052	a0001c0001t0016g0221 a0001c0001t0016g0223 a0001c0001t0029g0096 others(2): Show a0001c0001t0016g0221 a0001c0001t0016g0223 a0001c0001t0029g0096 a0001c0001t0032g0215 a0001c0001t0052g0233	5	280	0.0179	25	c.798 others(42): Show c.798+1288_798+1289insTTTTTTTTTTTTTTTTTTTTTTTTT	PLPPR5	ENSG00000117598.14	transcript	ENST00000263177.5	protein_coding	4/5			chr1	TogoVar
PLRG1_chr4_154530005_154555400	154533394	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0017 a0001c0003t0011g0017	1	430	0.0023	25	c.32 others(36): Show c.3290_*3291insATATATATATATATATTTTTTTTTT	PLRG1	ENSG00000171566.12	transcript	ENST00000499023.7	protein_coding		1610		chr4	TogoVar
PLS3_chrX_115556174_115655861	115651988	A A	ATCTCTAC others(18): Show ATCTCTACCAACATGGTGAATCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG01167.hp1 others(7): Show HG01074.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp2 HG02886.hp1 HG03486.hp1 HG03516.hp2 NA18522.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0003t0001g0012 others(7): Show a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0021 a0001c0003t0001g0117 a0001c0003t0001g0153 a0001c0003t0003g0019 a0001c0003t0003g0020 a0001c0003t0003g0025	10	254	0.0394	25	c.24 others(36): Show c.2427_*2428insTCTCTACCAACATGGTGAATCCCCC	PLS3	ENSG00000102024.19	transcript	ENST00000355899.8	protein_coding		1128		chrX	TogoVar
PLVAP_chr19_17346455_17382342	17382272	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0407 a0001c0001t0001g0407	1	436	0.0023	25	c.-49 others(36): Show c.-4985_-4984insCTTTCTTTCTTTCTTTCTTTCTTTC	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4931		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382276	A A	AAGAAAGA others(18): Show AAGAAAGAAAGAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0393 a0001c0001t0001g0393	1	436	0.0023	25	c.-49 others(36): Show c.-4989_-4988insCTTTCTTTCTTTCTTCTTTCTTTCT	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4935		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382276	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01070.hp2 HG01081.hp1 others(5): Show HG00741.hp1 HG01070.hp2 HG01081.hp1 HG01975.hp1 HG02129.hp2 HG02258.hp2 HG02683.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0251 a0001c0001t0001g0291 others(5): Show a0001c0001t0001g0014 a0001c0001t0001g0251 a0001c0001t0001g0291 a0001c0001t0001g0316 a0001c0001t0001g0355 a0001c0001t0001g0380 a0001c0001t0001g0400 a0001c0001t0001g0411	8	436	0.0184	25	c.-49 others(36): Show c.-4989_-4988insCTTTCTTTCTTTCTTTCTTTCTTTC	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4935		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382280	A A	AAAAAGAA others(18): Show AAAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02897.hp2 HG02572.hp2 HG02630.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0073 a0001c0001t0002g0096 a0001c0001t0002g0008 a0001c0001t0002g0073 a0001c0001t0002g0096	3	436	0.0069	25	c.-49 others(36): Show c.-4993_-4992insCTTTCTTTCTTTCTTTCTTTCTTTT	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4939		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382280	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18951.hp1 NA18995.hp2 NA18940.hp1 NA18951.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0003g0262 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0003g0262	3	436	0.0069	25	c.-49 others(36): Show c.-4993_-4992insCTTTCTTTCTTTCTTTCTTTCTTTC	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4939		chr19	TogoVar
PLXDC1_chr17_39058313_39156637	39086280	T T	TCTAAAGT others(18): Show TCTAAAGTGTCCCAGCCCTGTGACCC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0108 a0002c0003t0006g0108	1	320	0.0031	25	c.907 others(42): Show c.907+1302_907+1326dupGGGTCACAGGGCTGGGACACTTTAG	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	8/13			chr17	TogoVar
PLXDC2_chr10_19811432_20294856	19883884	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02965.hp1 HG03041.hp1 others(1): Show HG02109.hp2 HG02965.hp1 HG03041.hp1 HG03688.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0028 a0002c0002t0019 a0002c0002t0026 others(1): Show a0001c0001t0028 a0002c0002t0019 a0002c0002t0026 a0002c0002t0049	a0001c0001t0028g0161 a0002c0002t0019g0108 a0002c0002t0026g0159 others(1): Show a0001c0001t0028g0161 a0002c0002t0019g0108 a0002c0002t0026g0159 a0002c0002t0049g0069	4	180	0.0222	25	c.112 others(44): Show c.112+66696_112+66720dupTTTTTTTTTTTTTTTTTTTTTTTTT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA2_chr1_208017242_208249384	208209983	A A	AATTTTTT others(18): Show AATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02818.hp2 HG02970.hp1 others(4): Show HG01081.hp1 HG02818.hp2 HG02970.hp1 NA18960.hp2 NA18970.hp2 NA19090.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0018 others(2): Show a0001c0001 a0001c0004 a0001c0018 a0001c0022 a0003c0005	a0001c0001t0005 a0001c0001t0014 a0001c0004t0011 others(3): Show a0001c0001t0005 a0001c0001t0014 a0001c0004t0011 a0001c0018t0003 a0001c0022t0025 a0003c0005t0093	a0001c0001t0005g0166 a0001c0001t0014g0004 a0001c0001t0014g0024 others(4): Show a0001c0001t0005g0166 a0001c0001t0014g0004 a0001c0001t0014g0024 a0001c0004t0011g0012 a0001c0018t0003g0121 a0001c0022t0025g0104 a0003c0005t0093g0266	7	312	0.0224	25	c.137 others(42): Show c.1371+296_1371+297insAAAAAAAAAAAAAAAAAAAAAAAAT	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31			chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132124055	T T	TCCTTCCC others(18): Show TCCTTCCCACCTCAGGGCCTGGAGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0010 a0001c0003t0018g0010	1	88	0.0114	25	c.63 others(36): Show c.6399_*6423dupGCCTCCAGGCCCTGAGGTGGGAAGG	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	32/32	6423		chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132132380	T T	TTGTTCTG others(18): Show TTGTTCTGTTCTGTTCTGTTCTGTTC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0068 a0001c0002t0012g0068	1	88	0.0114	25	c.558 others(42): Show c.5589+644_5589+668dupGAACAGAACAGAACAGAACAGAACA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	31/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132151374	G G	GAGGAGGA others(18): Show GAGGAGGAGGAGGAGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0042 a0001c0033t0001g0042	1	88	0.0114	25	c.466 others(44): Show c.4661-2729_4661-2728insTCCTCCTCCTCCTCCTCCTCCTCCT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	25/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132513660	T T	TTTTTGTT others(18): Show TTTTTGTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03486.hp2 HG01257.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0012 a0001c0002t0004 a0001c0002t0012	a0001c0002t0004g0025 a0001c0002t0012g0068 a0001c0002t0004g0025 a0001c0002t0012g0068	2	88	0.0227	25	c.-86 others(42): Show c.-86-4906_-86-4882dupCAAAACAAAACAAAACAAAACAAAA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31			chr7	TogoVar
PLXNB2_chr22_50269979_50312646	50307773	G G	GGAGGGGA others(18): Show GGAGGGGAGGGGGAGGGGAGGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02486.hp1 others(5): Show HG01891.hp1 HG02055.hp1 HG02486.hp1 HG02895.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp1 NA20300.hp2	a0002 a0002	a0002c0010 a0002c0013 a0002c0010 a0002c0013	a0002c0010t0003 a0002c0013t0003 a0002c0010t0003 a0002c0013t0003	a0002c0010t0003g0243 a0002c0010t0003g0244 a0002c0010t0003g0245 others(5): Show a0002c0010t0003g0243 a0002c0010t0003g0244 a0002c0010t0003g0245 a0002c0010t0003g0246 a0002c0010t0003g0247 a0002c0013t0003g0227 a0002c0013t0003g0229 a0002c0013t0003g0248	8	302	0.0265	25	c.-29 others(34): Show c.-295_-294insTTCCCCCTCCCCTCCCCCTCCCCTC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		128		chr22	TogoVar
PLXNC1_chr12_94143577_94312675	94268588	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0212 a0001c0009t0001g0212	1	298	0.0034	25	c.359 others(44): Show c.3597+3387_3597+3388insTTTTTTTTTTTTTTTTTTTTTTTTT	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PM20D2_chr6_89141055_89170565	89141977	A A	ATTTATTT others(18): Show ATTTATTTTATTTTATTTTATTTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0007 a0001c0001t0016g0007	1	372	0.0027	25	c.-41 others(36): Show c.-4168_-4167insTTTATTTTATTTTATTTTATTTTAT	PM20D2	ENSG00000146281.6	transcript	ENST00000275072.5	protein_coding		4077		chr6	TogoVar
PMM2_chr16_8792839_8854325	8827882	A A	AATATATG others(18): Show AATATATGATATATTATATATATGTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02895.hp1 HG02809.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0017 a0001c0001t0017g0018 a0001c0001t0017g0017 a0001c0001t0017g0018	2	408	0.0049	25	c.639 others(44): Show c.639+14789_639+14790insTATATATATGTTATATATGATATAT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
PMM2_chr16_8792839_8854325	8851977	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01099.hp2 NA18952.hp2 others(1): Show HG01070.hp2 HG01099.hp2 NA18952.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0002 a0001c0001t0002 a0001c0007t0002	a0001c0001t0002g0008 a0001c0001t0002g0278 a0001c0001t0002g0283 others(1): Show a0001c0001t0002g0008 a0001c0001t0002g0278 a0001c0001t0002g0283 a0001c0007t0002g0295	4	408	0.0098	25	c.41 others(36): Show c.4152_*4153insTTTTTTTTTTTTTTTTTTTTTTTTT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding		2653		chr16	TogoVar
PMS1_chr2_189779450_189882629	189864657	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	234	0.0043	25	c.234 others(42): Show c.2342+436_2342+460dupAAAAAAAAAAAAAAAAAAAAAAAAA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0094 a0001c0003t0001g0094	1	408	0.0025	25	c.-95 others(34): Show c.-956_-955insATATATATATATATATTTTTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAATATAC others(18): Show AAATATACATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0013 a0003c0004t0013	a0003c0004t0013g0365 a0003c0004t0013g0365	1	408	0.0025	25	c.-95 others(34): Show c.-956_-955insATATATATATATATATATGTATATT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar

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