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
PMS2_chr7_5965925_6014049	6009966	A A	ATATATAT others(10): Show ATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0091 a0002c0004t0001g0091	1	388	0.0026	17	c.-94 others(26): Show c.-948_-947insATATATATATATATATA	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		918		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009972	A A	ATATATAT others(10): Show ATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19062.hp2 NA19002.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0130 a0001c0001t0001g0134	2	327	0.0061	17	c.-95 others(26): Show c.-954_-953insATATATATATATATATA	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		924		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA19009.hp1 NA18991.hp2 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0015 a0002c0002t0002 a0002c0002t0015	a0002c0002t0002g0237 a0002c0002t0015g0218 a0002c0002t0002g0237 a0002c0002t0015g0218	2	46	0.0435	17	c.-95 others(26): Show c.-956_-955insATATATATTTTTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01258.hp1 HG02135.hp2 others(3): Show HG00639.hp1 HG01258.hp1 HG02135.hp2 NA18965.hp2 NA19057.hp1 NA19068.hp1	a0001 a0002 a0023 a0001 a0002 a0023	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0012 a0023c0027	a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 others(3): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 a0002c0002t0008 a0002c0012t0002 a0023c0027t0016	a0001c0001t0001g0184 a0001c0003t0001g0175 a0002c0002t0002g0215 others(3): Show a0001c0001t0001g0184 a0001c0003t0001g0175 a0002c0002t0002g0215 a0002c0002t0008g0250 a0002c0012t0002g0101 a0023c0027t0016g0234	6	50	0.1200	17	c.-95 others(26): Show c.-956_-955insATATATATATTTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00741.hp1 HG01070.hp1 others(11): Show HG00673.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01891.hp2 HG02080.hp1 HG02293.hp1 NA18942.hp2 NA18971.hp2 NA18977.hp2 NA19003.hp2 NA19067.hp1 NA19070.hp1 NA19080.hp2	a0002 a0007 a0008 a0002 a0007 a0008	a0002c0002 a0002c0012 a0002c0023 others(2): Show a0002c0002 a0002c0012 a0002c0023 a0007c0011 a0008c0022	a0002c0002t0002 a0002c0012t0002 a0002c0023t0008 others(3): Show a0002c0002t0002 a0002c0012t0002 a0002c0023t0008 a0007c0011t0002 a0007c0011t0016 a0008c0022t0002	a0002c0002t0002g0199 a0002c0002t0002g0204 a0002c0002t0002g0226 others(11): Show a0002c0002t0002g0199 a0002c0002t0002g0204 a0002c0002t0002g0226 a0002c0002t0002g0241 a0002c0002t0002g0261 a0002c0012t0002g0100 a0002c0023t0008g0251 a0002c0023t0008g0256 a0007c0011t0002g0235 a0007c0011t0002g0254 a0007c0011t0002g0257 a0007c0011t0002g0265 a0007c0011t0016g0253 a0008c0022t0002g0233	14	58	0.2414	17	c.-95 others(26): Show c.-956_-955insATATATATATATTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02080.hp2 NA18941.hp1 others(5): Show HG01255.hp2 HG02080.hp2 NA18941.hp1 NA18969.hp1 NA18975.hp1 NA18977.hp1 NA19065.hp1 NA19066.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0007c0011	a0001c0001t0001 a0002c0002t0002 a0002c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0002 a0002c0004t0001 a0007c0011t0002	a0001c0001t0001g0132 a0001c0001t0001g0176 a0002c0002t0002g0202 others(5): Show a0001c0001t0001g0132 a0001c0001t0001g0176 a0002c0002t0002g0202 a0002c0002t0002g0211 a0002c0002t0002g0244 a0002c0002t0002g0272 a0002c0004t0001g0264 a0007c0011t0002g0243	8	52	0.1538	17	c.-95 others(26): Show c.-956_-955insATATATATATATATTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAATATAT others(10): Show AAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 NA18960.hp2 NA18967.hp1 HG02074.hp2 NA18960.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0158 a0001c0001t0001g0186 a0001c0001t0001g0003 a0001c0001t0001g0158 a0001c0001t0001g0186	3	47	0.0638	17	c.-95 others(26): Show c.-956_-955insATATATATATATATATT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	ATATATAT others(10): Show ATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0006 a0005c0007t0006	a0005c0007t0006g0368 a0005c0007t0006g0368	1	45	0.0222	17	c.-95 others(26): Show c.-956_-955insATATATATATATATATA	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PNISR_chr6_99393050_99430308	99419152	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA18986.hp1 HG01257.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0213 a0001c0001t0002g0214	2	316	0.0063	17	c.-11 others(36): Show c.-111-2741_-111-2725dupTTTTTTTTTTTTTTTTT	PNISR	ENSG00000132424.17	transcript	ENST00000369239.10	protein_coding	1/11			chr6	TogoVar
PNKD_chr2_218265519_218351793	218281139	T T	TTGTTTTG others(10): Show TTGTTTTGTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	188	0.0053	17	c.236 others(34): Show c.236+9590_236+9591insTGTTTTGTTTTTTTTTG	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9			chr2	TogoVar
PNKD_chr2_218265519_218351793	218281140	G G	GTTTTGTT others(10): Show GTTTTGTTTTTTTTTGGT	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA19002.hp1 NA19055.hp2 HG02074.hp2 NA19002.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0064 a0001c0001t0001g0129 a0001c0001t0001g0130	3	278	0.0108	17	c.236 others(34): Show c.236+9591_236+9592insTTTTGTTTTTTTTTGGT	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9			chr2	TogoVar
PNMA8A_chr19_46461503_46476563	46473260	G G	GTTTTTTG others(10): Show GTTTTTTGTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	351	0.0028	17	c.-20 others(28): Show c.-2004_-2003insAAAAAAAAAACAAAAAA	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding		1698		chr19	TogoVar
PNMA8A_chr19_46461503_46476563	46475170	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01167.hp2 HG00280.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0007 a0001c0002t0007g0007	2	25	0.0800	17	c.-39 others(28): Show c.-3914_-3913insTTTTTTTTTTTTTTTTT	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding		3608		chr19	TogoVar
PNN_chr14_39170254_39188220	39187618	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	99	0.0101	17	c.57 others(28): Show c.5755_*5756insAAAAAAAAAAAAAAAAA	PNN	ENSG00000100941.9	transcript	ENST00000216832.9	protein_coding		4399		chr14	TogoVar
PNPLA1_chr6_36265060_36318955	36282077	G G	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0364 a0003c0007t0001g0364	1	384	0.0026	17	c.206 others(34): Show c.206-9229_206-9228insAGAAAAGAAAGAAAGAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36300171	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0104 a0003c0007t0001g0104	1	384	0.0026	17	c.776 others(34): Show c.776-1682_776-1681insTGTGTGTGTTGTGTGTG	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA8_chr7_108465417_108531135	108467731	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 NA20129.hp1 HG01433.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0138 a0001c0001t0008g0139 a0001c0001t0008g0138 a0001c0001t0008g0139	2	144	0.0139	17	c.46 others(28): Show c.4669_*4670insTTTTTTTTTTTTTTTTT	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding		2685		chr7	TogoVar
PNPT1_chr2_55629061_55698844	55691878	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03490.hp2 HG03669.hp2 HG02523.hp1 HG03490.hp2 HG03669.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0016 a0007c0008 a0001c0001 a0004c0016 a0007c0008	a0001c0001t0001 a0004c0016t0001 a0007c0008t0001 a0001c0001t0001 a0004c0016t0001 a0007c0008t0001	a0001c0001t0001g0034 a0004c0016t0001g0053 a0007c0008t0001g0055 a0001c0001t0001g0034 a0004c0016t0001g0053 a0007c0008t0001g0055	3	185	0.0162	17	c.161 others(34): Show c.161+1784_161+1785insAAATATATATATATATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
PNPT1_chr2_55629061_55698844	55691878	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0029 a0001c0009t0029	a0001c0009t0029g0199 a0001c0009t0029g0199	1	183	0.0055	17	c.161 others(34): Show c.161+1784_161+1785insAAAAAAAAATATATATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
PNPT1_chr2_55629061_55698844	55695278	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0095 a0003c0003t0004g0095	1	149	0.0067	17	c.-14 others(28): Show c.-1456_-1455insTTTTTTTTTTTTTTTTT	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding		1435		chr2	TogoVar
POC1B_chr12_89414718_89531047	89423133	T T	TGGGAGAT others(10): Show TGGGAGATAGGTCTCCTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp2 HG02717.hp2 others(1): Show HG02486.hp1 HG02622.hp2 HG02717.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0012 a0001c0001t0008 a0001c0001t0012	a0001c0001t0008g0359 a0001c0001t0008g0360 a0001c0001t0008g0361 others(1): Show a0001c0001t0008g0359 a0001c0001t0008g0360 a0001c0001t0008g0361 a0001c0001t0012g0106	4	368	0.0109	17	c.133 others(36): Show c.1333-1877_1333-1876insCAGGAGACCTATCTCCC	POC1B	ENSG00000139323.14	transcript	ENST00000313546.8	protein_coding	11/11			chr12	TogoVar
POC1B_chr12_89414718_89531047	89502623	T T	TGGATCTT others(10): Show TGGATCTTGTAAGGCCAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp2 HG03209.hp2 others(1): Show HG02622.hp2 HG02717.hp2 HG03209.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0015 a0001c0001t0008 a0001c0001t0015	a0001c0001t0008g0359 a0001c0001t0008g0360 a0001c0001t0008g0361 others(1): Show a0001c0001t0008g0359 a0001c0001t0008g0360 a0001c0001t0008g0361 a0001c0001t0015g0358	4	368	0.0109	17	c.101 others(34): Show c.101-5298_101-5282dupGTGGCCTTACAAGATCC	POC1B	ENSG00000139323.14	transcript	ENST00000313546.8	protein_coding	2/11			chr12	TogoVar
PODXL_chr7_131495271_131561628	131522654	T T	TAAAGACA others(10): Show TAAAGACACAGCAAAAGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00738.hp1 others(8): Show HG00639.hp1 HG00642.hp1 HG00738.hp1 HG01099.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG02109.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0015 a0002c0001 a0003c0026 others(1): Show a0001c0015 a0002c0001 a0003c0026 a0006c0010	a0001c0015t0002 a0002c0001t0001 a0003c0026t0001 others(5): Show a0001c0015t0002 a0002c0001t0001 a0003c0026t0001 a0003c0026t0004 a0006c0010t0001 a0006c0010t0002 a0006c0010t0003 a0006c0010t0004	a0001c0015t0002g0207 a0001c0015t0002g0239 a0001c0015t0002g0241 others(7): Show a0001c0015t0002g0207 a0001c0015t0002g0239 a0001c0015t0002g0241 a0002c0001t0001g0094 a0003c0026t0001g0372 a0003c0026t0004g0418 a0006c0010t0001g0139 a0006c0010t0002g0006 a0006c0010t0003g0163 a0006c0010t0004g0096	11	438	0.0251	17	c.101 others(36): Show c.101-11238_101-11222dupTCTTTTGCTGTGTCTTT	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
PODXL_chr7_131495271_131561628	131524408	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp2 HG01261.hp2 others(1): Show HG00621.hp2 HG00735.hp2 HG01261.hp2 NA19000.hp2	a0002 a0004 a0002 a0004	a0002c0001 a0004c0002 a0002c0001 a0004c0002	a0002c0001t0001 a0002c0001t0003 a0004c0002t0001 a0002c0001t0001 a0002c0001t0003 a0004c0002t0001	a0002c0001t0001g0121 a0002c0001t0001g0138 a0002c0001t0003g0147 others(1): Show a0002c0001t0001g0121 a0002c0001t0001g0138 a0002c0001t0003g0147 a0004c0002t0001g0231	4	424	0.0094	17	c.101 others(36): Show c.101-12976_101-12975insCTCTCTCTCTCTCTCTC	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
POF1B_chrX_85272396_85384665	85360567	A A	ATATATAT others(10): Show ATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03471.hp1 NA18952.hp1 others(1): Show HG01891.hp2 HG03471.hp1 NA18952.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0010 a0001c0002t0015	a0001c0001t0001g0034 a0001c0001t0002g0024 a0001c0002t0010g0035 others(1): Show a0001c0001t0001g0034 a0001c0001t0002g0024 a0001c0002t0010g0035 a0001c0002t0015g0029	4	191	0.0209	17	c.358 others(32): Show c.358-938_358-937insGTGTGTATATATATATA	POF1B	ENSG00000124429.18	transcript	ENST00000262753.9	protein_coding	3/16			chrX	TogoVar
POF1B_chrX_85272396_85384665	85372772	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0207 a0001c0001t0003g0207	1	223	0.0045	17	c.283 others(34): Show c.283-5007_283-5006insATATATATATATATATA	POF1B	ENSG00000124429.18	transcript	ENST00000262753.9	protein_coding	2/16			chrX	TogoVar
POFUT1_chr20_32202880_32243658	32242834	A A	ATATATAT others(10): Show ATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03098.hp1 HG02258.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0003t0006 a0001c0001t0008 a0001c0003t0006	a0001c0001t0008g0011 a0001c0003t0006g0024 a0001c0001t0008g0011 a0001c0003t0006g0024	2	271	0.0074	17	c.81 others(28): Show c.8173_*8174insTATATATATATATATAT	POFUT1	ENSG00000101346.15	transcript	ENST00000375749.8	protein_coding		4177		chr20	TogoVar
POGLUT1_chr3_119463963_119499708	119495225	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0162 a0001c0001t0013g0162	1	25	0.0400	17	c.27 others(28): Show c.2787_*2788insAAAAAAAAAAAAAAAAA	POGLUT1	ENSG00000163389.12	transcript	ENST00000295588.9	protein_coding		518		chr3	TogoVar
POLA1_chrX_24688918_25001986	24757436	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03486.hp1 HG02257.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0186 a0001c0001t0001g0015 a0001c0001t0001g0186	2	20	0.1000	17	c.296 others(36): Show c.2964+8449_2964+8465dupTTTTTTTTTTTTTTTTT	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLA1_chrX_24688918_25001986	24801920	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	174	0.0057	17	c.296 others(36): Show c.2965-7978_2965-7977insTGTGTGTGTGTGTGTGT	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36			chrX	TogoVar
POLA2_chr11_65256962_65303685	65265112	C C	CAGCTACT others(10): Show CAGCTACTTGCTGTAGTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0199 a0002c0002t0002g0199	1	282	0.0035	17	c.80- others(32): Show c.80-1470_80-1469insAGCTACTTGCTGTAGTA	POLA2	ENSG00000014138.10	transcript	ENST00000265465.8	protein_coding	1/17			chr11	TogoVar
POLD1_chr19_50379347_50423014	50400133	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0063 a0002c0017t0001g0063	1	87	0.0115	17	c.316 others(32): Show c.316+661_316+677dupTTTTTTTTTTTTTTTTT	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
POLD1_chr19_50379347_50423014	50400211	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0032 a0003c0032	a0003c0032t0001 a0003c0032t0001	a0003c0032t0001g0018 a0003c0032t0001g0018	1	209	0.0048	17	c.316 others(32): Show c.316+737_316+753dupTTTTTTTTTTTTTTTTT	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
POLD3_chr11_74587582_74648076	74609373	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03688.hp2 NA18950.hp1 others(2): Show HG01243.hp1 HG03688.hp2 NA18950.hp1 NA18954.hp2 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0023 a0001c0002t0002g0262 a0001c0002t0004g0047 others(1): Show a0001c0002t0002g0023 a0001c0002t0002g0262 a0001c0002t0004g0047 a0001c0002t0004g0075	5	355	0.0141	17	c.220 others(34): Show c.220-2126_220-2125insATATATATATATATATA	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11			chr11	TogoVar
POLD4_chr11_67345772_67358546	67347633	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	235	0.0043	17	c.43 others(28): Show c.4361_*4362insATATATATATATTTTTT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3138		chr11	TogoVar
POLD4_chr11_67345772_67358546	67347633	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	235	0.0043	17	c.43 others(28): Show c.4361_*4362insATATATATATATATTTT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3138		chr11	TogoVar
POLDIP2_chr17_28341633_28362527	28353520	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp2 NA19070.hp2 others(1): Show HG02109.hp1 HG02559.hp2 NA19070.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0146 a0001c0001t0002g0178 a0001c0001t0005g0072 others(1): Show a0001c0001t0002g0146 a0001c0001t0002g0178 a0001c0001t0005g0072 a0001c0001t0005g0073	4	75	0.0533	17	c.438 others(32): Show c.438+174_438+175insTTTTTTTTTTTTTTTTT	POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10			chr17	TogoVar
POLE2_chr14_49638555_49693214	49645043	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA20300.hp1 HG02145.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0076 a0001c0002t0003g0203 a0001c0001t0002g0076 a0001c0002t0003g0203	2	171	0.0117	17	c.156 others(36): Show c.1566-1374_1566-1373insTTTTTTTTTTTTTTTTT	POLE2	ENSG00000100479.14	transcript	ENST00000216367.10	protein_coding	18/18			chr14	TogoVar
POLE2_chr14_49638555_49693214	49682640	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18522.hp2 HG02976.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0207 a0001c0002t0002g0208	2	133	0.0150	17	c.169 others(32): Show c.169+936_169+952dupTTTTTTTTTTTTTTTTT	POLE2	ENSG00000100479.14	transcript	ENST00000216367.10	protein_coding	2/18			chr14	TogoVar
POLH_chr6_43571185_43625523	43588904	C C	CTCGGCTC others(10): Show CTCGGCTCACTGCAAGCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18522.hp2 HG03453.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0105 a0001c0001t0003g0104 a0001c0001t0001g0105 a0001c0001t0003g0104	2	260	0.0077	17	c.490 others(34): Show c.490+1416_490+1432dupTCGGCTCACTGCAAGCT	POLH	ENSG00000170734.12	transcript	ENST00000372236.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
POLH_chr6_43571185_43625523	43598201	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02970.hp1 HG03471.hp1 others(1): Show HG02622.hp2 HG02970.hp1 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0026 a0001c0001t0004 a0001c0001t0026	a0001c0001t0004g0014 a0001c0001t0004g0056 a0001c0001t0026g0043 a0001c0001t0004g0014 a0001c0001t0004g0056 a0001c0001t0026g0043	4	245	0.0163	17	c.660 others(32): Show c.660+337_660+353dupAAAAAAAAAAAAAAAAA	POLH	ENSG00000170734.12	transcript	ENST00000372236.9	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
POLK_chr5_75506891_75614991	75559505	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18968.hp2 NA18962.hp2 NA18968.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0320 a0001c0002t0004g0321 a0001c0002t0004g0320 a0001c0002t0004g0321	2	346	0.0058	17	c.255 others(34): Show c.255+6921_255+6922insTTTTTTTTTTTTTTTTT	POLK	ENSG00000122008.16	transcript	ENST00000241436.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
POLK_chr5_75506891_75614991	75595248	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03490.hp1 HG02145.hp2 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0032 a0001c0002t0002 a0001c0003t0032	a0001c0002t0002g0161 a0001c0003t0032g0190 a0001c0002t0002g0161 a0001c0003t0032g0190	2	131	0.0153	17	c.152 others(34): Show c.1529-965_1529-949dupAAAAAAAAAAAAAAAAA	POLK	ENSG00000122008.16	transcript	ENST00000241436.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
POLQ_chr3_121426431_121550988	121522284	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02630.hp1 NA19056.hp1 HG00558.hp1 HG02630.hp1 NA19056.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0203 a0001c0001t0001g0222 a0003c0002t0001g0268 a0001c0001t0001g0203 a0001c0001t0001g0222 a0003c0002t0001g0268	3	39	0.0769	17	c.110 others(34): Show c.1109-152_1109-136dupAAAAAAAAAAAAAAAAA	POLQ	ENSG00000051341.15	transcript	ENST00000264233.6	protein_coding	7/29			chr3	TogoVar
POLR1A_chr2_86015216_86110886	86097214	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02735.hp2 HG02895.hp1 others(1): Show HG01167.hp2 HG02735.hp2 HG02895.hp1 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0012 a0005c0006 a0001c0012 a0005c0006	a0001c0012t0002 a0005c0006t0009 a0001c0012t0002 a0005c0006t0009	a0001c0012t0002g0150 a0001c0012t0002g0151 a0005c0006t0009g0103 others(1): Show a0001c0012t0002g0150 a0001c0012t0002g0151 a0005c0006t0009g0103 a0005c0006t0009g0105	4	72	0.0556	17	c.432 others(34): Show c.432+1380_432+1396dupTTTTTTTTTTTTTTTTT	POLR1A	ENSG00000068654.17	transcript	ENST00000263857.11	protein_coding	3/33			chr2	TogoVar
POLR1G_chr19_45401644_45415737	45410565	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0067 a0003c0003t0067	a0003c0003t0067g0001 a0003c0003t0067g0001	1	113	0.0088	17	c.10 others(28): Show c.1064_*1065insGTGTGTGTGTGTGTGTG	POLR1G	ENSG00000117877.11	transcript	ENST00000309424.8	protein_coding	3/3	1065		chr19	TogoVar
POLR1G_chr19_45401644_45415737	45410580	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0052 a0002c0002t0052	a0002c0002t0052g0003 a0002c0002t0052g0003	1	404	0.0025	17	c.10 others(28): Show c.1082_*1098dupGTGTGTGTGTGTGTGGT	POLR1G	ENSG00000117877.11	transcript	ENST00000309424.8	protein_coding	3/3	1099	INFO_REALIGN_3_PRIME	chr19	TogoVar
POLR2C_chr16_57457679_57477009	57475693	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	231	0.0043	17	c.45 others(28): Show c.4574_*4575insCTCTCTCTCTCTCTCTC	POLR2C	ENSG00000102978.13	transcript	ENST00000219252.10	protein_coding		3685		chr16	TogoVar
POLR2C_chr16_57457679_57477009	57475754	T T	TTCTCCCC others(10): Show TTCTCCCCTCTCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG01256.hp1 others(31): Show HG00323.hp1 HG00597.hp2 HG01256.hp1 HG01258.hp1 HG01496.hp2 HG01943.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02074.hp1 HG02129.hp1 HG02155.hp2 HG02273.hp1 NA18747.hp1 NA18946.hp1 NA18956.hp2 NA18960.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18986.hp2 NA19002.hp2 NA19012.hp1 NA19057.hp1 NA19068.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19086.hp1 NA19089.hp2 NA19090.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0010	a0001c0002t0001g0002 a0001c0002t0001g0027 a0001c0002t0001g0037 others(6): Show a0001c0002t0001g0002 a0001c0002t0001g0027 a0001c0002t0001g0037 a0001c0002t0001g0049 a0001c0002t0003g0002 a0001c0002t0004g0002 a0001c0002t0004g0027 a0001c0002t0009g0002 a0001c0002t0010g0053	34	388	0.0876	17	c.46 others(28): Show c.4635_*4636insTCTCCCCTCTCTCCCTC	POLR2C	ENSG00000102978.13	transcript	ENST00000219252.10	protein_coding		3746		chr16	TogoVar
POLR2D_chr2_127838553_127863155	127844107	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG03486.hp2 HG02257.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0058 a0001c0001t0043 a0001c0001t0058	a0001c0001t0043g0194 a0001c0001t0058g0233 a0001c0001t0043g0194 a0001c0001t0058g0233	2	133	0.0150	17	c.39 others(28): Show c.3983_*3999dupTTTTTTTTTTTTTTTTT	POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	4/4	3999		chr2	TogoVar

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