Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
PNKD_chr2_218265519_218351793	218315116	C C	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	280	0.0036	28	c.237 others(47): Show c.237-24664_237-24663insTCTTTCTTTCTTTCTTTCTTTCTTTC TT	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNMA8A_chr19_46461503_46476563	46475170	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA19043.hp1 NA18969.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0002t0003 a0001c0001t0019 a0001c0002t0003	a0001c0001t0019g0029 a0001c0002t0003g0002 a0001c0001t0019g0029 a0001c0002t0003g0002	2	454	0.0044	28	c.-39 others(39): Show c.-3914_-3913insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding		3608		chr19	TogoVar
PNPLA1_chr6_36265060_36318955	36282044	G G	GGAAACAG others(21): Show GGAAACAGAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0374 a0003c0007t0001g0374	1	386	0.0026	28	c.206 others(45): Show c.206-9272_206-9271insCAGAGAAAGAAAGAAAGAAAGAAAGAAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282044	G G	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02897.hp1 HG04115.hp1 others(4): Show HG02300.hp1 HG02897.hp1 HG04115.hp1 NA18944.hp1 NA18959.hp1 NA19068.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0005c0005	a0001c0001t0002 a0001c0003t0005 a0002c0002t0001 others(2): Show a0001c0001t0002 a0001c0003t0005 a0002c0002t0001 a0003c0004t0001 a0005c0005t0002	a0001c0001t0002g0166 a0001c0001t0002g0350 a0001c0003t0005g0008 others(4): Show a0001c0001t0002g0166 a0001c0001t0002g0350 a0001c0003t0005g0008 a0001c0003t0005g0161 a0002c0002t0001g0196 a0003c0004t0001g0018 a0005c0005t0002g0195	7	386	0.0181	28	c.206 others(45): Show c.206-9256_206-9229dupAGAAAGAAAGAAAGAAAGAAAGAAAGAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282054	A A	AAAGAAAG others(21): Show AAAGAAAGAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0384 a0003c0007t0001g0384	1	386	0.0026	28	c.206 others(45): Show c.206-9256_206-9255insAGAAAGAAAGAAAGAAAGAAGAAAGAAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282088	A A	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0002 a0003c0007t0001g0002	1	386	0.0026	28	c.206 others(45): Show c.206-9229_206-9228insAGAAAGAAAGAAAGAAAGAAAGAAGGAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282088	A A	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0263 a0003c0004t0001g0263	1	386	0.0026	28	c.206 others(45): Show c.206-9229_206-9228insAGAAAGAAAGAAAGAAAGAAGGAAGGAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282088	A A	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0006 a0004c0006t0003g0006	1	386	0.0026	28	c.206 others(45): Show c.206-9229_206-9228insAGAAAGAAAGAAAGAAGGAAGGAAGGAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282212	G G	GGAAGGAA others(21): Show GGAAGGAAGGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0309 a0001c0003t0001g0309	1	386	0.0026	28	c.206 others(45): Show c.206-9107_206-9106insAAGGAAGGGAAGGAAGGAAGGAAGGAAG	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282212	G G	GGAAGGGA others(21): Show GGAAGGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01175.hp1 HG01433.hp2 others(5): Show HG00621.hp1 HG01175.hp1 HG01433.hp2 HG01978.hp1 HG02273.hp2 HG02698.hp1 NA18747.hp2 NA18995.hp1	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0028	a0001c0003 a0005c0005 a0008c0011 others(1): Show a0001c0003 a0005c0005 a0008c0011 a0028c0037	a0001c0003t0001 a0005c0005t0001 a0008c0011t0001 others(1): Show a0001c0003t0001 a0005c0005t0001 a0008c0011t0001 a0028c0037t0001	a0001c0003t0001g0256 a0001c0003t0001g0322 a0001c0003t0001g0335 others(5): Show a0001c0003t0001g0256 a0001c0003t0001g0322 a0001c0003t0001g0335 a0001c0003t0001g0340 a0005c0005t0001g0182 a0008c0011t0001g0323 a0008c0011t0001g0325 a0028c0037t0001g0318	8	386	0.0207	28	c.206 others(45): Show c.206-9107_206-9106insAAGGGAAGGAAGGAAGGAAGGAAGGAAG	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36300178	T T	TGTGTGTG others(21): Show TGTGTGTGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00642.hp1 others(23): Show HG00280.hp1 HG00280.hp2 HG00642.hp1 HG00735.hp1 HG01081.hp1 HG01109.hp2 HG01167.hp2 HG01192.hp1 HG01258.hp1 HG01496.hp1 HG01952.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp2 HG03654.hp2 HG03669.hp2 HG04199.hp2 NA18943.hp2 NA18944.hp1 NA18959.hp2 NA18966.hp1 NA18974.hp1 NA19009.hp1 NA19068.hp2 NA19070.hp2 NA20905.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0002c0002 a0002c0012 others(2): Show a0001c0001 a0002c0002 a0002c0012 a0005c0005 a0007c0010	a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0002c0012t0001 a0005c0005t0002 a0007c0010t0001	a0001c0001t0002g0087 a0001c0001t0002g0180 a0001c0001t0002g0350 others(23): Show a0001c0001t0002g0087 a0001c0001t0002g0180 a0001c0001t0002g0350 a0001c0001t0004g0173 a0002c0002t0001g0090 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0099 a0002c0002t0001g0118 a0002c0002t0001g0122 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0001g0153 a0002c0002t0001g0248 a0002c0002t0001g0377 a0002c0012t0001g0245 a0005c0005t0002g0197 a0005c0005t0002g0199 a0005c0005t0002g0203 a0005c0005t0002g0214 a0005c0005t0002g0221 a0005c0005t0002g0226 a0007c0010t0001g0150 a0007c0010t0001g0156	26	386	0.0674	28	c.776 others(45): Show c.776-1682_776-1681insTGTGTGAGAGAGAGAGAGAGAGAGAGAG	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA7_chr9_137454952_137555402	137551649	C C	CAGCCCCG others(21): Show CAGCCCCGCCCCGCGAGCCCCGCCCCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01071.hp1 HG02622.hp1 others(8): Show HG00609.hp1 HG01071.hp1 HG02622.hp1 HG02683.hp2 HG02735.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18940.hp1 NA19030.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0027 a0031	a0001c0001 a0001c0002 a0001c0023 others(5): Show a0001c0001 a0001c0002 a0001c0023 a0002c0003 a0003c0020 a0003c0025 a0027c0061 a0031c0037	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0023t0001 a0002c0003t0001 a0003c0020t0001 a0003c0025t0001 a0027c0061t0001 a0031c0037t0001	a0001c0001t0001g0016 a0001c0001t0001g0048 a0001c0001t0001g0055 others(8): Show a0001c0001t0001g0016 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0002t0001g0006 a0001c0002t0005g0187 a0001c0023t0001g0010 a0002c0003t0001g0073 a0003c0020t0001g0125 a0003c0025t0001g0012 a0027c0061t0001g0023 a0031c0037t0001g0030	11	188	0.0585	28	c.-14 others(39): Show c.-1453_-1452insCGCGGGGCGGGGCTCGCGGGGCGGGGCT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding		1248		chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137551681	C C	CCCGCCCC others(21): Show CCCGCCCCGCGAGCCCCGCCCCGCGAGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0095 a0004c0004t0001g0095	1	188	0.0053	28	c.-14 others(39): Show c.-1485_-1484insCGCTCGCGGGGCGGGGCTCGCGGGGCGG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding		1280		chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137551734	A A	AGCCCCGC others(21): Show AGCCCCGCCCCGCCGGCCCCGCCCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	188	0.0053	28	c.-15 others(39): Show c.-1538_-1537insCGGCGGGGCGGGGCCGGCGGGGCGGGGC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding		1333		chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137551736	C C	CCCCGCAC others(21): Show CCCCGCACCGCCGACCCCGCACCGCCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0188 a0001c0001t0005g0188	1	188	0.0053	28	c.-15 others(39): Show c.-1540_-1539insACCGGCGGTGCGGGGTCGGCGGTGCGGG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding		1335		chr9	TogoVar
POC1B_chr12_89414718_89531047	89476759	T T	TAGATAGA others(21): Show TAGATAGATAGATAGATAGATAGACAGAC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	370	0.0027	28	c.453 others(45): Show c.453-4485_453-4484insGTCTGTCTATCTATCTATCTATCTATCT	POC1B	ENSG00000139323.14	transcript	ENST00000313546.8	protein_coding	4/11			chr12	TogoVar
PODXL_chr7_131495271_131561628	131499777	T T	TTGTTTTT others(21): Show TTGTTTTTACATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 NA18969.hp2 HG01891.hp1 NA18969.hp2	a0003 a0004 a0003 a0004	a0003c0005 a0004c0002 a0003c0005 a0004c0002	a0003c0005t0003 a0004c0002t0003 a0003c0005t0003 a0004c0002t0003	a0003c0005t0003g0346 a0004c0002t0003g0299 a0003c0005t0003g0346 a0004c0002t0003g0299	2	440	0.0046	28	c.45 others(39): Show c.4533_*4534insTATATATATATATATATATGTAAAAACA	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		493		chr7	TogoVar
PODXL_chr7_131495271_131561628	131499816	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0401 a0005c0004t0001g0401	1	440	0.0023	28	c.44 others(39): Show c.4494_*4495insGTATATATATATATATATATATATATAT	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		454		chr7	TogoVar
PODXL_chr7_131495271_131561628	131524379	C C	CACACAGA others(21): Show CACACAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03704.hp1 NA18979.hp2 others(1): Show HG02074.hp1 HG03704.hp1 NA18979.hp2 NA19083.hp2	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0001 a0002c0020 a0004c0002 others(1): Show a0002c0001 a0002c0020 a0004c0002 a0006c0006	a0002c0001t0001 a0002c0020t0001 a0004c0002t0003 others(1): Show a0002c0001t0001 a0002c0020t0001 a0004c0002t0003 a0006c0006t0002	a0002c0001t0001g0116 a0002c0020t0001g0126 a0004c0002t0003g0259 others(1): Show a0002c0001t0001g0116 a0002c0020t0001g0126 a0004c0002t0003g0259 a0006c0006t0002g0090	4	440	0.0091	28	c.101 others(47): Show c.101-12947_101-12946insCTCTCTCTCTCTCTCTCTCTCTCTGT GT	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
PODXL_chr7_131495271_131561628	131524379	C C	CACAGAGA others(21): Show CACAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01358.hp1 HG01361.hp1 others(8): Show HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01928.hp2 HG02083.hp2 HG02602.hp1 HG04184.hp1 HG04228.hp2 NA18971.hp2 NA18980.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0003 a0001c0012 a0002c0001 others(2): Show a0001c0003 a0001c0012 a0002c0001 a0003c0005 a0006c0011	a0001c0003t0002 a0001c0012t0001 a0002c0001t0001 others(2): Show a0001c0003t0002 a0001c0012t0001 a0002c0001t0001 a0003c0005t0001 a0006c0011t0001	a0001c0003t0002g0203 a0001c0003t0002g0204 a0001c0003t0002g0226 others(8): Show a0001c0003t0002g0203 a0001c0003t0002g0204 a0001c0003t0002g0226 a0001c0003t0002g0247 a0001c0003t0002g0261 a0001c0003t0002g0295 a0001c0003t0002g0306 a0001c0012t0001g0319 a0002c0001t0001g0101 a0003c0005t0001g0365 a0006c0011t0001g0150	11	440	0.0250	28	c.101 others(47): Show c.101-12947_101-12946insCTCTCTCTCTCTCTCTCTCTCTCTCT GT	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
POFUT1_chr20_32202880_32243658	32240836	A A	ATTATTTA others(21): Show ATTATTTATTTATTTATTTATTTATTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	322	0.0031	28	c.61 others(39): Show c.6175_*6176insTTATTTATTTATTTATTTATTTATTTAT	POFUT1	ENSG00000101346.15	transcript	ENST00000375749.8	protein_coding		2179		chr20	TogoVar
POGLUT1_chr3_119463963_119499708	119468586	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	422	0.0024	28	c.-43 others(37): Show c.-436_-435insACACACACACACACACACACACACACAC	POGLUT1	ENSG00000163389.12	transcript	ENST00000295588.9	protein_coding		376		chr3	TogoVar
POLA1_chrX_24688918_25001986	24757436	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp2 HG02145.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0157 a0001c0001t0002g0153 a0001c0001t0001g0157 a0001c0001t0002g0153	2	197	0.0102	28	c.296 others(47): Show c.2964+8465_2964+8466insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLD3_chr11_74587582_74648076	74609345	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0210 a0001c0001t0006g0210	1	400	0.0025	28	c.220 others(45): Show c.220-2153_220-2126dupATATATATATATATATATATATATATAT	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
POLD3_chr11_74587582_74648076	74632877	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0223	1	400	0.0025	28	c.100 others(47): Show c.1007-1676_1007-1649dupCACACACACACACACACACACACACA CA	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
POLDIP2_chr17_28341633_28362527	28353520	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 NA18988.hp2 others(1): Show HG02622.hp2 HG02630.hp2 NA18988.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 others(1): Show a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0002t0001g0116	4	340	0.0118	28	c.438 others(43): Show c.438+174_438+175insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10			chr17	TogoVar
POLG_chr15_89311320_89339824	89325037	A A	AGAGTGAG others(21): Show AGAGTGAGTGAGTGAGTGAGAGAGTGAGT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0264 a0001c0001t0006g0264	1	398	0.0025	28	c.194 others(45): Show c.1949+385_1949+412dupACTCACTCTCTCACTCACTCACTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POLG_chr15_89311320_89339824	89325259	T T	TGAGAGAG others(21): Show TGAGAGAGTGAGTGAGAGAGTGAGTGAGA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0201 a0002c0015t0001g0201	1	398	0.0025	28	c.194 others(45): Show c.1949+190_1949+191insTCTCACTCACTCTCTCACTCACTCTCTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POLH_chr6_43571185_43625523	43585637	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0036 a0001c0001t0029g0036	1	262	0.0038	28	c.273 others(45): Show c.273-1618_273-1617insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	POLH	ENSG00000170734.12	transcript	ENST00000372236.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
POLK_chr5_75506891_75614991	75595248	G G	GAAAAAAA others(21): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03139.hp2 HG02886.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0062 a0001c0001t0009 a0001c0001t0062	a0001c0001t0009g0233 a0001c0001t0062g0278 a0001c0001t0009g0233 a0001c0001t0062g0278	2	356	0.0056	28	c.152 others(45): Show c.1529-949_1529-948insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	POLK	ENSG00000122008.16	transcript	ENST00000241436.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
POLR1F_chr7_19690461_19714037	19702990	A A	ATGAAAAT others(21): Show ATGAAAATGTATGTTTTCATTCATATGTC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	430	0.0023	28	c.396 others(45): Show c.396+1761_396+1788dupGACATATGAATGAAAACATACATTTTCA	POLR1F	ENSG00000105849.6	transcript	ENST00000222567.6	protein_coding	2/3			chr7	TogoVar
POLR1G_chr19_45401644_45415737	45410565	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp2 HG03098.hp1 HG02622.hp2 HG03098.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0098 a0003c0003t0075 a0001c0001t0098 a0003c0003t0075	a0001c0001t0098g0004 a0003c0003t0075g0001 a0001c0001t0098g0004 a0003c0003t0075g0001	2	406	0.0049	28	c.10 others(39): Show c.1069_*1096dupTGTGTGTGTGTGTGTGTGTGTGTGTGTG	POLR1G	ENSG00000117877.11	transcript	ENST00000309424.8	protein_coding	3/3	1097	INFO_REALIGN_3_PRIME	chr19	TogoVar
POLR2M_chr15_57701714_57722557	57713820	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	404	0.0025	28	c.964 others(43): Show c.964-704_964-677dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	POLR2M	ENSG00000255529.9	transcript	ENST00000299638.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
POLR3C_chr1_145819200_145849402	145842793	T T	TGATAGAT others(21): Show TGATAGATAGATAGATAGATAGATAGATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp2 HG02071.hp2 HG02083.hp1 others(1): Show HG02015.hp2 HG02071.hp2 HG02083.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0002 a0001c0001t0009g0002	4	368	0.0109	28	c.39 others(37): Show c.397_*398insGATAGATAGATAGATAGATAGATAGATA	POLR3C	ENSG00000186141.10	transcript	ENST00000334163.4	protein_coding	15/15	398	INFO_REALIGN_3_PRIME	chr1	TogoVar
POLR3C_chr1_145819200_145849402	145849357	C C	CCCGCCCC others(21): Show CCCGCCCCCCCCGCCAGCCCCCCGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	368	0.0027	28	c.69 others(39): Show c.6937_*6938insCCGCCCCCCCCGCCAGCCCCCCGCGGGG	POLR3C	ENSG00000186141.10	transcript	ENST00000334163.4	protein_coding		4956		chr1	TogoVar
POLR3F_chr20_18462390_18489646	18486157	A A	AATATCTA others(21): Show AATATCTATATATAAATATATATATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01515.hp1 HG01106.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	452	0.0044	28	c.25 others(39): Show c.2599_*2600insATATCTATATATAAATATATATATAAAT	POLR3F	ENSG00000132664.13	transcript	ENST00000377603.5	protein_coding		1512		chr20	TogoVar
POLR3G_chr5_90469864_90519557	90514755	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 NA19009.hp1 HG02630.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0068 a0001c0001t0010g0143 a0001c0001t0002g0068 a0001c0001t0010g0143	2	366	0.0055	28	c.26 others(39): Show c.2616_*2617insACACACACACACACACACACACACACAC	POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding		199		chr5	TogoVar
POLR3H_chr22_41520799_41549470	41544429	A A	ACGCACCG others(21): Show ACGCACCGCGCACCGCGCACCGCGCACCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01109.hp2 HG02056.hp1 HG01109.hp2 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0058 a0001c0001t0024g0059 a0001c0001t0024g0058 a0001c0001t0024g0059	2	384	0.0052	28	c.-32 others(37): Show c.-329_-328insCGGTGCGCGGTGCGCGGTGCGCGGTGCG	POLR3H	ENSG00000100413.17	transcript	ENST00000355209.9	protein_coding	1/6	329		chr22	TogoVar
POMZP3_chr7_76604986_76632279	76620861	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0059 a0001c0001t0005g0059	1	423	0.0024	28	c.228 others(45): Show c.228-2562_228-2561insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	POMZP3	ENSG00000146707.15	transcript	ENST00000310842.9	protein_coding	3/6			chr7	TogoVar
POP7_chr7_100701121_100712486	100710266	G G	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	28	c.30 others(39): Show c.3013_*3014insTGTGTATATATATATATATATATATATA	POP7	ENSG00000172336.5	transcript	ENST00000303151.5	protein_coding		2781		chr7	TogoVar
POP7_chr7_100701121_100712486	100710282	A A	ATATATAT others(21): Show ATATATATATATGTGTATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 NA18951.hp1 NA18951.hp2 HG02717.hp1 NA18951.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	382	0.0079	28	c.30 others(39): Show c.3029_*3030insTATATATATATGTGTATATATATATATG	POP7	ENSG00000172336.5	transcript	ENST00000303151.5	protein_coding		2797		chr7	TogoVar
POR_chr7_75910155_75991855	75989021	G G	GGGGAAGG others(21): Show GGGGAAGGCCGGGTGGGGTGGGGGGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0051 a0001c0003t0001g0051	1	278	0.0036	28	c.25 others(39): Show c.2540_*2541insGGGAAGGCCGGGTGGGGTGGGGGGTGGA	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2167		chr7	TogoVar
POSTN_chr13_37557585_37603768	37564181	C C	CTTGTATA others(21): Show CTTGTATATACAAAACATTACATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA18939.hp1 NA18946.hp1 others(1): Show HG02004.hp2 NA18939.hp1 NA18946.hp1 NA18981.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0084 a0001c0001t0001g0158 a0001c0001t0002g0315 others(1): Show a0001c0001t0001g0084 a0001c0001t0001g0158 a0001c0001t0002g0315 a0002c0002t0001g0137	4	416	0.0096	28	c.247 others(45): Show c.2473+337_2473+338insATATATATGTAATGTTTTGTATATACAA	POSTN	ENSG00000133110.15	transcript	ENST00000379747.9	protein_coding	22/22			chr13	TogoVar
POT1_chr7_124817386_124934825	124877840	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	346	0.0029	28	c.125 others(45): Show c.125-6827_125-6800dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	POT1	ENSG00000128513.16	transcript	ENST00000357628.8	protein_coding	6/18			chr7	TogoVar
POTEC_chr18_14502339_14548600	14516296	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA19083.hp1 NA19085.hp2 HG02074.hp2 NA19083.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0003 a0001c0001t0016	a0001c0001t0003g0058 a0001c0001t0016g0080 a0001c0001t0016g0094 a0001c0001t0003g0058 a0001c0001t0016g0080 a0001c0001t0016g0094	3	388	0.0077	28	c.141 others(47): Show c.1410-2512_1410-2511insTATATATATATATATATATATATATA TA	POTEC	ENSG00000183206.18	transcript	ENST00000358970.10	protein_coding	9/10			chr18	TogoVar
POTEC_chr18_14502339_14548600	14516298	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18980.hp2 NA19070.hp1 HG02809.hp1 NA18980.hp2 NA19070.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0009 a0002c0002 a0006c0009	a0002c0002t0002 a0006c0009t0010 a0002c0002t0002 a0006c0009t0010	a0002c0002t0002g0113 a0002c0002t0002g0175 a0006c0009t0010g0186 a0002c0002t0002g0113 a0002c0002t0002g0175 a0006c0009t0010g0186	3	388	0.0077	28	c.141 others(47): Show c.1410-2541_1410-2514dupTATATATATATATATATATATATATA TA	POTEC	ENSG00000183206.18	transcript	ENST00000358970.10	protein_coding	9/10			chr18	TogoVar
POTED_chr21_13604777_13650823	13646287	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01261.hp2 HG02040.hp1 others(6): Show HG00544.hp1 HG01261.hp2 HG02040.hp1 HG03017.hp2 HG03834.hp2 NA18963.hp1 NA18969.hp2 NA18992.hp2 NA19063.hp1	a0001 a0016 a0017 a0001 a0016 a0017	a0001c0003 a0016c0016 a0017c0018 a0001c0003 a0016c0016 a0017c0018	a0001c0003t0001 a0001c0003t0003 a0001c0003t0020 others(3): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0020 a0001c0003t0042 a0016c0016t0003 a0017c0018t0043	a0001c0003t0001g0001 a0001c0003t0003g0001 a0001c0003t0020g0018 others(3): Show a0001c0003t0001g0001 a0001c0003t0003g0001 a0001c0003t0020g0018 a0001c0003t0042g0018 a0016c0016t0003g0001 a0017c0018t0043g0204	9	416	0.0216	28	c.47 others(39): Show c.4721_*4722insAAAAAAAAAAAAAAAAAAAAAAACACAC	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding		465		chr21	TogoVar
POTED_chr21_13604777_13650823	13646287	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02280.hp2 HG01106.hp2 HG02280.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0018 a0008c0009t0018	a0008c0009t0018g0021 a0008c0009t0018g0232 a0008c0009t0018g0021 a0008c0009t0018g0232	2	416	0.0048	28	c.47 others(39): Show c.4721_*4722insAAAAAAAAAAAAAAAAAAACACACACAC	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding		465		chr21	TogoVar
POTEE_chr2_131204536_131270278	131211520	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02723.hp1 HG01069.hp2 HG01071.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0026 a0001c0001t0003 a0001c0002t0026	a0001c0001t0003g0006 a0001c0002t0026g0014 a0001c0001t0003g0006 a0001c0002t0026g0014	3	288	0.0104	28	c.-18 others(45): Show c.-189+357_-189+358insTGTGTGTGTGTGTGTGTGTGTGTGTGTG	POTEE	ENSG00000188219.16	transcript	ENST00000683005.1	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
POTEM_chr14_18962434_19008752	18969357	G G	GTGTGTGT others(21): Show GTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0036 a0004c0004t0036	a0004c0004t0036g0006 a0004c0004t0036g0006	1	67	0.0149	28	c.521 others(45): Show c.521+1352_521+1353insGTGTGTATATATATATATATATATATAT	POTEM	ENSG00000222036.8	transcript	ENST00000547889.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr14	TogoVar

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