Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	125	0.0080	34	c.-24 others(45): Show c.-2481_-2480insAAAAAAAAAAAAAAAAAAATATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	125	0.0080	34	c.-24 others(45): Show c.-2481_-2480insAAAAAAAAAAAAAAATATATATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 NA18947.hp1 HG00099.hp2 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0002t0001g0002 a0001c0001t0001g0004 a0001c0002t0001g0002	2	126	0.0159	34	c.-24 others(45): Show c.-2481_-2480insAAAAAAAAAAAAATATATATATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG02922.hp2 NA18950.hp1 HG01975.hp2 HG02922.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0002t0001 a0001c0012t0001 a0001c0001t0001 a0001c0002t0001 a0001c0012t0001	a0001c0001t0001g0004 a0001c0002t0001g0002 a0001c0012t0001g0002 a0001c0001t0001g0004 a0001c0002t0001g0002 a0001c0012t0001g0002	3	127	0.0236	34	c.-24 others(45): Show c.-2481_-2480insAAAAAAAAAAATATATATATATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	125	0.0080	34	c.-24 others(45): Show c.-2481_-2480insAAAAAAATATATATATATATATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLOD1_chr1_11929717_11980537	11967595	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18612.hp1 NA18961.hp1 HG03486.hp1 NA18612.hp1 NA18961.hp1	a0002 a0002	a0002c0003 a0002c0010 a0002c0003 a0002c0010	a0002c0003t0001 a0002c0010t0001 a0002c0003t0001 a0002c0010t0001	a0002c0003t0001g0266 a0002c0003t0001g0267 a0002c0010t0001g0292 a0002c0003t0001g0266 a0002c0003t0001g0267 a0002c0010t0001g0292	3	276	0.0109	34	c.175 others(51): Show c.1755+505_1755+506insATATATATATATATATATATATATATAT ATATAT	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(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19065.hp1 NA20905.hp1 NA19009.hp2 NA19065.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0010 a0001c0002 a0001c0006 a0002c0010	a0001c0002t0001 a0001c0006t0001 a0002c0010t0001 a0001c0002t0001 a0001c0006t0001 a0002c0010t0001	a0001c0002t0001g0178 a0001c0006t0001g0224 a0002c0010t0001g0269 a0001c0002t0001g0178 a0001c0006t0001g0224 a0002c0010t0001g0269	3	142	0.0211	34	c.175 others(51): Show c.1755+524_1755+525insTATATATATATATATATATATATATATA TATATA	PLOD1	ENSG00000083444.17	transcript	ENST00000196061.5	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLPP1_chr5_55419854_55539964	55444743	T T	TTGTGTGT others(27): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	63	0.0159	34	c.492 others(51): Show c.492-2836_492-2835insCACACACACACACACACACACACACACA CACACA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	3/5			chr5	TogoVar
PLPP3_chr1_56489761_56584563	56518715	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02004.hp2 NA19058.hp1 HG01346.hp1 HG02004.hp2 NA19058.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0005 a0001c0003t0004 a0001c0003t0005	a0001c0003t0004g0212 a0001c0003t0005g0061 a0001c0003t0005g0213 a0001c0003t0004g0212 a0001c0003t0005g0061 a0001c0003t0005g0213	3	165	0.0182	34	c.633 others(51): Show c.633+5107_633+5108insTATATATATATATATATATATATATATA TATATA	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	4/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557044	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0189	1	171	0.0058	34	c.140 others(53): Show c.140-19933_140-19932insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557052	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0318	1	159	0.0063	34	c.140 others(53): Show c.140-19941_140-19940insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPPR5_chr1_98885245_99009861	99001671	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0253 a0001c0001t0016g0253	1	25	0.0400	34	c.237 others(51): Show c.237+2730_237+2763dupATATATATATATATATATATATATATAT ATATAT	PLPPR5	ENSG00000117598.14	transcript	ENST00000263177.5	protein_coding	1/5			chr1	TogoVar
PLSCR5_chr3_146580837_146610346	146602138	C C	CTTCCTAT others(27): Show CTTCCTATCTGAGATAAACAAGGATTATAGATCTG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	414	0.0024	34	c.14- others(49): Show c.14-1676_14-1675insCAGATCTATAATCCTTGTTTATCTCAGATA GGAA	PLSCR5	ENSG00000231213.7	transcript	ENST00000443512.2	protein_coding	1/7			chr3	TogoVar
PLVAP_chr19_17346455_17382342	17349162	C C	CTTTCTTT others(27): Show CTTTCTTTCTTCTTTCTTTCTTTCTTTCCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG03471.hp2 HG02572.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0204 a0001c0001t0002g0097 a0001c0001t0001g0204 a0001c0001t0002g0097	2	405	0.0049	34	c.31 others(45): Show c.3199_*3200insAAGAAAGGAAAGAAAGAAAGAAAGAAGAAAGAAA	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2292		chr19	TogoVar
PLXDC2_chr10_19811432_20294856	20044235	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0144 a0001c0001t0011g0144	1	174	0.0057	34	c.325 others(51): Show c.325-2632_325-2599dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20126156	T T	TATGTATG others(27): Show TATGTATGTATCTATACATATATGTTATATAATAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0023 a0001c0001t0055g0023	1	178	0.0056	34	c.542 others(53): Show c.542-17136_542-17103dupGTATGTATCTATACATATATGTTATA TAATACAT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20129529	A A	ATATATAT others(27): Show ATATATATATATATACACATACACATATATATGTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18522.hp1 NA19030.hp2 others(1): Show HG02486.hp1 NA18522.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0084 a0001c0001t0085 others(1): Show a0001c0001t0071 a0001c0001t0084 a0001c0001t0085 a0001c0001t0109	a0001c0001t0071g0074 a0001c0001t0084g0139 a0001c0001t0085g0103 others(1): Show a0001c0001t0071g0074 a0001c0001t0084g0139 a0001c0001t0085g0103 a0001c0001t0109g0049	4	160	0.0250	34	c.542 others(53): Show c.542-13756_542-13755insTATACACATACACATATATATGTGTA TATATATA	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(27): Show TATATATATGTATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18973.hp1 NA18961.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0128 a0001c0001t0012g0176 a0001c0001t0004g0128 a0001c0001t0012g0176	2	114	0.0175	34	c.131 others(53): Show c.1313-6652_1313-6651insTATACACACATATATATGTATATATA TATATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20238687	A A	ATATATAT others(27): Show ATATATATATATATATATATACACACATATATGTG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0112 a0002c0002t0112	a0002c0002t0112g0035 a0002c0002t0112g0035	1	134	0.0075	34	c.131 others(53): Show c.1313-6652_1313-6651insTATATATATATATACACACATATATG TGTATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA1_chr3_126978115_127042389	127037467	T T	TCTCCCTG others(27): Show TCTCCCTGGGAGATGCTTCCCAGGGAAGCACGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02809.hp2 NA19030.hp2 HG01255.hp1 HG02809.hp2 NA19030.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0020 a0001c0006t0001g0020	3	344	0.0087	34	c.34 others(45): Show c.3450_*3451insCTCCCTGGGAGATGCTTCCCAGGGAAGCACGGAA	PLXNA1	ENSG00000114554.12	transcript	ENST00000393409.3	protein_coding		79		chr3	TogoVar
PLXNA2_chr1_208017242_208249384	208209983	A A	AATTTTTT others(27): Show AATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19056.hp1 HG02109.hp1 NA19056.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0023 a0001c0004 a0003c0023	a0001c0004t0002 a0003c0023t0003 a0001c0004t0002 a0003c0023t0003	a0001c0004t0002g0084 a0003c0023t0003g0142 a0001c0004t0002g0084 a0003c0023t0003g0142	2	58	0.0345	34	c.137 others(51): Show c.1371+296_1371+297insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAT	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31			chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132151409	A A	AGGAAGGA others(27): Show AGGAAGGAGGAGGAGGAGGAAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	38	0.0263	34	c.466 others(53): Show c.4661-2764_4661-2763insCCTCCTCCTCCTCCTTCCTCCTCCTC CTCCTTCC	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	25/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132561576	T T	TCCTTCTC others(27): Show TCCTTCTCCTCCTCCTTCTCCTCCTCCTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03540.hp1 HG02922.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0006t0007 a0001c0001t0003 a0001c0006t0007	a0001c0001t0003g0087 a0001c0006t0007g0085 a0001c0001t0003g0087 a0001c0006t0007g0085	2	86	0.0233	34	c.-87 others(53): Show c.-87+14845_-87+14846insGGAAAGGAGGAGGAGGAGAAGGAGGA GGAGAAGG	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31			chr7	TogoVar
PM20D1_chr1_205823025_205855132	205853432	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0157 a0002c0001t0002g0157	1	412	0.0024	34	c.-33 others(45): Show c.-3361_-3360insATATATATATATATATATATATATATATATATAT	PM20D1	ENSG00000162877.13	transcript	ENST00000367136.5	protein_coding		3301		chr1	TogoVar
PM20D1_chr1_205823025_205855132	205853436	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01516.hp1 others(2): Show HG01168.hp2 HG01169.hp2 HG01516.hp1 NA18997.hp2 NA19010.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0004c0030 a0002c0001 a0004c0030	a0002c0001t0002 a0004c0030t0002 a0002c0001t0002 a0004c0030t0002	a0002c0001t0002g0001 a0002c0001t0002g0035 a0002c0001t0002g0174 others(1): Show a0002c0001t0002g0001 a0002c0001t0002g0035 a0002c0001t0002g0174 a0004c0030t0002g0164	5	221	0.0226	34	c.-33 others(45): Show c.-3365_-3364insATATATATATATATATATATATATATATATATAT	PM20D1	ENSG00000162877.13	transcript	ENST00000367136.5	protein_coding		3305		chr1	TogoVar
PMS1_chr2_189779450_189882629	189864657	G G	GAAAAAAA others(27): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	186	0.0054	34	c.234 others(51): Show c.2342+460_2342+461insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	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(27): Show AAAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0072 a0002c0002t0002g0072	1	45	0.0222	34	c.-95 others(43): Show c.-956_-955insATATATATATATATATATATATATATATTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0084 a0002c0004t0001g0084	1	45	0.0222	34	c.-95 others(43): Show c.-956_-955insATATATATATATATATATATATATATATATTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAATATA others(27): Show AAAATATACATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 NA18975.hp2 NA20752.hp2 HG03704.hp2 NA18975.hp2 NA20752.hp2	a0001 a0025 a0001 a0025	a0001c0003 a0025c0038 a0001c0003 a0025c0038	a0001c0003t0004 a0025c0038t0004 a0001c0003t0004 a0025c0038t0004	a0001c0003t0004g0352 a0001c0003t0004g0359 a0025c0038t0004g0355 a0001c0003t0004g0352 a0001c0003t0004g0359 a0025c0038t0004g0355	3	47	0.0638	34	c.-95 others(43): Show c.-956_-955insATATATATATATATATATATATATATGTATATTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AATATACA others(27): Show AATATACATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 NA19010.hp2 NA19070.hp2 HG02027.hp2 NA19010.hp2 NA19070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0020 a0001c0003t0004 a0001c0003t0020	a0001c0003t0004g0351 a0001c0003t0004g0356 a0001c0003t0020g0350 a0001c0003t0004g0351 a0001c0003t0004g0356 a0001c0003t0020g0350	3	47	0.0638	34	c.-95 others(43): Show c.-956_-955insATATATATATATATATATATATATATATGTATAT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PNKD_chr2_218265519_218351793	218315038	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	6	0.1667	34	c.237 others(53): Show c.237-24744_237-24743insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNMA8A_chr19_46461503_46476563	46473260	G G	GTTTTTTG others(27): Show GTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03516.hp1 others(1): Show HG02896.hp1 HG02897.hp1 HG03516.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0002t0023 a0001c0001t0002 a0001c0002t0003 a0001c0002t0023	a0001c0001t0002g0001 a0001c0002t0003g0039 a0001c0002t0023g0027 a0001c0001t0002g0001 a0001c0002t0003g0039 a0001c0002t0023g0027	4	354	0.0113	34	c.-20 others(45): Show c.-2004_-2003insAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAA	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding		1698		chr19	TogoVar
PNPLA1_chr6_36265060_36318955	36300178	T T	TGTGTGTG others(27): Show TGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01261.hp1 HG01358.hp1 others(8): Show HG00673.hp2 HG01261.hp1 HG01358.hp1 HG01928.hp2 HG01978.hp2 HG02293.hp2 NA18942.hp2 NA18954.hp2 NA18960.hp2 NA18974.hp2 NA19091.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0007 a0005c0005 a0002c0002 a0003c0007 a0005c0005	a0002c0002t0001 a0003c0007t0001 a0005c0005t0002 a0002c0002t0001 a0003c0007t0001 a0005c0005t0002	a0002c0002t0001g0080 a0002c0002t0001g0121 a0002c0002t0001g0358 others(8): Show a0002c0002t0001g0080 a0002c0002t0001g0121 a0002c0002t0001g0358 a0002c0002t0001g0383 a0003c0007t0001g0384 a0005c0005t0002g0025 a0005c0005t0002g0174 a0005c0005t0002g0210 a0005c0005t0002g0223 a0005c0005t0002g0244 a0005c0005t0002g0357	11	142	0.0775	34	c.776 others(51): Show c.776-1682_776-1681insTGTGTGAGAGAGAGAGAGAGAGAGAGAG AGAGAG	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA7_chr9_137454952_137555402	137511506	A A	AGGCACCC others(27): Show AGGCACCCGTTACTTAGTGGACCTTGGCCTGGCGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	186	0.0054	34	c.122 others(53): Show c.1225+3839_1225+3872dupCCGCCAGGCCAAGGTCCACTAAGTAA CGGGTGCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	12/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137518704	T T	TCACTCCA others(27): Show TCACTCCATCCCCCACTCACTCACTCCACTCTGTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp2 HG01261.hp1 others(1): Show HG00738.hp2 HG01109.hp2 HG01261.hp1 HG02723.hp1	a0001 a0013 a0001 a0013	a0001c0002 a0013c0016 a0001c0002 a0013c0016	a0001c0002t0001 a0013c0016t0003 a0001c0002t0001 a0013c0016t0003	a0001c0002t0001g0003 a0001c0002t0001g0055 a0001c0002t0001g0145 others(1): Show a0001c0002t0001g0003 a0001c0002t0001g0055 a0001c0002t0001g0145 a0013c0016t0003g0064	4	184	0.0217	34	c.108 others(53): Show c.1084+1179_1084+1212dupGACAGAGTGGAGTGAGTGAGTGGGGG ATGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137518760	A A	ACTCCACT others(27): Show ACTCCACTCTGCTCACTCCATCCCCCACTCACTCG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	186	0.0054	34	c.108 others(53): Show c.1084+1156_1084+1157insCGAGTGAGTGGGGGATGGAGTGAGCA GAGTGGAG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137518772	C C	CCACTCCA others(27): Show CCACTCCATCCCCCACTCACTCACTCCACTCTGCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0034 a0001c0011t0001g0034	1	182	0.0055	34	c.108 others(53): Show c.1084+1144_1084+1145insAGCAGAGTGGAGTGAGTGAGTGGGGG ATGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PODXL_chr7_131495271_131561628	131524379	C C	CACACAGA others(27): Show CACACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0061 a0002c0001t0001g0061	1	183	0.0055	34	c.101 others(53): Show c.101-12947_101-12946insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTGTGT	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
POLA1_chrX_24688918_25001986	24921892	T T	TTGTGTGT others(27): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	156	0.0064	34	c.416 others(53): Show c.4165-8545_4165-8544insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	35/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLB_chr8_42333494_42376808	42347249	G G	GGAATTAC others(27): Show GGAATTACTCCTCAGTAATTCTAGAAATTATTCTA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp1 HG01192.hp1 others(25): Show HG00544.hp1 HG00673.hp1 HG01192.hp1 HG02027.hp2 HG02040.hp2 HG02109.hp1 HG02165.hp2 HG02523.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG03098.hp1 HG03491.hp2 HG03492.hp1 HG04115.hp1 NA18612.hp1 NA18939.hp2 NA18946.hp1 NA18949.hp1 NA18959.hp1 NA18968.hp2 NA18979.hp2 NA18992.hp1 NA19066.hp2 NA19070.hp2 NA19077.hp2 NA19078.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0044 others(23): Show a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122	28	86	0.3256	34	c.187 others(51): Show c.187-1594_187-1561dupATTACTCCTCAGTAATTCTAGAAATTAT TCTAGA	POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
POLD3_chr11_74587582_74648076	74609372	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0198 a0001c0001t0010g0198	1	316	0.0032	34	c.220 others(51): Show c.220-2126_220-2125insATATATATATATATATATATATATATAT TTTTTT	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
POLDIP2_chr17_28341633_28362527	28353520	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01943.hp1 HG02145.hp2 others(2): Show HG01168.hp1 HG01943.hp1 HG02145.hp2 NA18972.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001	a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0004g0123 others(1): Show a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0004g0123 a0001c0002t0001g0037	5	76	0.0658	34	c.438 others(49): Show c.438+174_438+175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10			chr17	TogoVar
POLG_chr15_89311320_89339824	89311742	T T	TCACTCTC others(27): Show TCACTCTCACAAAAGAGCATAGAGCAGGTCATTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	396	0.0025	34	c.50 others(45): Show c.5008_*5009insTTAATGACCTGCTCTATGCTCTTTTGTGAGAGTG	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding		4577		chr15	TogoVar
POLG_chr15_89311320_89339824	89325263	T T	TGAGAGAG others(27): Show TGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	377	0.0027	34	c.194 others(51): Show c.1949+186_1949+187insTCACTCACTCACTCACTCTCTCACTCAC TCTCTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POLQ_chr3_121426431_121550988	121522284	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA19056.hp2 HG02155.hp1 NA19056.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0120 a0003c0002t0001g0161 a0003c0002t0001g0120 a0003c0002t0001g0161	2	38	0.0526	34	c.110 others(51): Show c.1109-169_1109-136dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	POLQ	ENSG00000051341.15	transcript	ENST00000264233.6	protein_coding	7/29			chr3	TogoVar
POLR3E_chr16_22292409_22340096	22303639	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	242	0.0041	34	c.36+ others(47): Show c.36+653_36+654insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	POLR3E	ENSG00000058600.16	transcript	ENST00000299853.10	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
POLR3G_chr5_90469864_90519557	90514755	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 NA19009.hp2 HG02080.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0037 a0001c0001t0010 a0001c0001t0037	a0001c0001t0010g0225 a0001c0001t0037g0230 a0001c0001t0010g0225 a0001c0001t0037g0230	2	131	0.0153	34	c.26 others(45): Show c.2616_*2617insACACACACACACACACACACACACACACACACAC	POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding		199		chr5	TogoVar
POLRMT_chr19_612221_638537	614020	A A	AGCGGGCC others(27): Show AGCGGGCCGGGGGCGTGGCCGGGGCGGGTGCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0055 a0005c0009t0001g0055	1	420	0.0024	34	c.32 others(45): Show c.3220_*3253dupCAGGGCACCCGCCCCGGCCACGCCCCCGGCCCGC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding		3200		chr19	TogoVar
POLRMT_chr19_612221_638537	614028	G G	GGGGGCGT others(27): Show GGGGGCGTGGCCGGGGCGGGTGCCCTGGCGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(132): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18941.hp1 NA18943.hp2 NA18946.hp2 NA18948.hp1 NA18951.hp2 NA18955.hp1 NA18960.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18972.hp1 NA18979.hp1 NA18983.hp2 NA18989.hp2 NA18990.hp1 NA18995.hp2 NA19003.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19062.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0012 a0013 a0014 a0017 a0019 a0022 a0024 a0026 a0028 a0034 a0035	a0001c0001 a0001c0028 a0002c0003 others(32): Show a0001c0001 a0001c0028 a0002c0003 a0002c0006 a0002c0007 a0002c0030 a0002c0041 a0002c0044 a0002c0048 a0002c0052 a0002c0068 a0002c0069 a0003c0002 a0003c0019 a0003c0074 a0004c0004 a0004c0029 a0004c0039 a0006c0008 a0007c0010 a0008c0011 a0008c0036 a0012c0047 a0012c0066 a0012c0067 a0013c0017 a0014c0060 a0017c0032 a0019c0045 a0022c0073 a0024c0049 a0026c0034 a0028c0033 a0034c0046 a0035c0064	a0001c0001t0001 a0001c0001t0011 a0001c0028t0001 others(45): Show a0001c0001t0001 a0001c0001t0011 a0001c0028t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0008 a0002c0006t0001 a0002c0006t0002 a0002c0006t0003 a0002c0006t0004 a0002c0007t0001 a0002c0007t0002 a0002c0030t0002 a0002c0041t0002 a0002c0044t0002 a0002c0048t0001 a0002c0052t0002 a0002c0068t0002 a0002c0069t0002 a0003c0002t0002 a0003c0002t0004 a0003c0019t0004 a0003c0074t0004 a0004c0004t0002 a0004c0004t0003 a0004c0029t0002 a0004c0039t0002 a0006c0008t0002 a0006c0008t0003 a0007c0010t0002 a0008c0011t0002 a0008c0011t0003 a0008c0011t0006 a0008c0036t0002 a0012c0047t0003 a0012c0066t0002 a0012c0067t0002 a0013c0017t0002 a0014c0060t0001 a0017c0032t0004 a0019c0045t0002 a0022c0073t0004 a0024c0049t0003 a0026c0034t0006 a0028c0033t0002 a0034c0046t0002 a0035c0064t0002	a0001c0001t0001g0005 a0001c0001t0001g0044 a0001c0001t0001g0081 others(121): Show a0001c0001t0001g0005 a0001c0001t0001g0044 a0001c0001t0001g0081 a0001c0001t0011g0338 a0001c0028t0001g0041 a0001c0028t0001g0075 a0002c0003t0001g0032 a0002c0003t0002g0234 a0002c0003t0002g0235 a0002c0003t0002g0242 a0002c0003t0003g0275 a0002c0003t0003g0295 a0002c0003t0008g0333 a0002c0006t0001g0053 a0002c0006t0002g0028 a0002c0006t0002g0229 a0002c0006t0002g0232 a0002c0006t0002g0237 a0002c0006t0002g0238 a0002c0006t0002g0239 a0002c0006t0002g0240 a0002c0006t0002g0243 a0002c0006t0002g0244 a0002c0006t0003g0284 a0002c0006t0003g0285 a0002c0006t0004g0162 a0002c0007t0001g0054 a0002c0007t0002g0026 a0002c0007t0002g0201 a0002c0007t0002g0203 a0002c0007t0002g0208 a0002c0007t0002g0209 a0002c0007t0002g0210 a0002c0007t0002g0211 a0002c0007t0002g0212 a0002c0007t0002g0214 a0002c0007t0002g0217 a0002c0007t0002g0218 a0002c0030t0002g0190 a0002c0030t0002g0191 a0002c0041t0002g0207 a0002c0044t0002g0241 a0002c0048t0001g0047 a0002c0052t0002g0233 a0002c0068t0002g0202 a0002c0069t0002g0213 a0003c0002t0002g0247 a0003c0002t0002g0248 a0003c0002t0004g0004 a0003c0002t0004g0007 a0003c0002t0004g0012 a0003c0002t0004g0121 a0003c0002t0004g0123 a0003c0002t0004g0124 a0003c0002t0004g0125 a0003c0002t0004g0127 a0003c0002t0004g0130 a0003c0002t0004g0131 a0003c0002t0004g0132 a0003c0002t0004g0133 a0003c0002t0004g0134 a0003c0002t0004g0135 a0003c0002t0004g0136 a0003c0002t0004g0140 a0003c0002t0004g0141 a0003c0002t0004g0143 a0003c0002t0004g0144 a0003c0002t0004g0145 a0003c0002t0004g0147 a0003c0002t0004g0148 a0003c0002t0004g0149 a0003c0002t0004g0153 a0003c0002t0004g0156 a0003c0019t0004g0023 a0003c0019t0004g0128 a0003c0074t0004g0122 a0004c0004t0002g0177 a0004c0004t0002g0185 a0004c0004t0002g0220 a0004c0004t0002g0222 a0004c0004t0002g0249 a0004c0004t0002g0250 a0004c0004t0002g0252 a0004c0004t0002g0253 a0004c0004t0002g0254 a0004c0004t0002g0255 a0004c0004t0003g0279 a0004c0004t0003g0280 a0004c0004t0003g0281 a0004c0029t0002g0196 a0004c0029t0002g0199 a0004c0039t0002g0251 a0006c0008t0002g0260 a0006c0008t0003g0321 a0006c0008t0003g0322 a0006c0008t0003g0323 a0006c0008t0003g0324 a0006c0008t0003g0325 a0006c0008t0003g0326 a0007c0010t0002g0256 a0007c0010t0002g0257 a0007c0010t0002g0258 a0008c0011t0002g0221 a0008c0011t0002g0223 a0008c0011t0002g0224 a0008c0011t0002g0225 a0008c0011t0003g0268 a0008c0011t0006g0328 a0008c0036t0002g0166 a0012c0047t0003g0315 a0012c0066t0002g0204 a0012c0067t0002g0219 a0013c0017t0002g0193 a0013c0017t0002g0194 a0013c0017t0002g0195 a0014c0060t0001g0037 a0017c0032t0004g0126 a0019c0045t0002g0236 a0022c0073t0004g0139 a0024c0049t0003g0270 a0026c0034t0006g0327 a0028c0033t0002g0165 a0034c0046t0002g0228 a0035c0064t0002g0200	135	415	0.3253	34	c.32 others(45): Show c.3212_*3245dupTCCCCCGCCAGGGCACCCGCCCCGGCCACGCCCC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding		3192		chr19	TogoVar
POLRMT_chr19_612221_638537	614028	G G	GGGGGCGT others(27): Show GGGGGCGTGGCCGGGGCGGGTGCCCTGGCGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01433.hp2 HG02015.hp1 HG01175.hp2 HG01433.hp2 HG02015.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0002 a0011c0018t0002	a0011c0018t0002g0205 a0011c0018t0002g0206 a0011c0018t0002g0216 a0011c0018t0002g0205 a0011c0018t0002g0206 a0011c0018t0002g0216	3	283	0.0106	34	c.32 others(45): Show c.3245_*3246insACCCCCGCCAGGGCACCCGCCCCGGCCACGCCCC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding		3192		chr19	TogoVar

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