Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
POLA1_chrX_24688918_25001986	24801924	G G	GGGGTGTG others(11): Show GGGGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	197	0.0051	18	c.296 others(37): Show c.2965-7973_2965-7972insGGTGTGTGTGTGTGTGTG		POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36					INFO_REALIGN_3_PRIME	chrX	TogoVar
POLA1_chrX_24688918_25001986	24801924	G G	GGTGGGTG others(11): Show GGTGGGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	197	0.0051	18	c.296 others(37): Show c.2965-7971_2965-7970insGGTGTGTGTGTGTGTGTG		POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36					INFO_REALIGN_3_PRIME	chrX	TogoVar
POLA1_chrX_24688918_25001986	24801924	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02273.hp2 others(5): Show HG01243.hp1 HG01884.hp2 HG02273.hp2 HG02895.hp1 HG02897.hp1 HG03471.hp1 NA18948.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0042 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0186 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0007g0060	8	197	0.0406	18	c.296 others(37): Show c.2965-7944_2965-7927dupTGTGTGTGTGTGTGTGTG		POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36					INFO_REALIGN_3_PRIME	chrX	TogoVar
POLA1_chrX_24688918_25001986	24921892	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02109.hp1 HG02145.hp1 others(13): Show HG01074.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02293.hp1 HG02647.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03471.hp1 HG03579.hp1 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0152 others(13): Show a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0194 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0195	16	197	0.0812	18	c.416 others(37): Show c.4165-8545_4165-8544insTGTGTGTGTGTGTGTGTG		POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	35/36					INFO_REALIGN_3_PRIME	chrX	TogoVar
POLA1_chrX_24688918_25001986	24997192	C C	CATACATA others(11): Show CATACATATACATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG02257.hp2 HG03486.hp1 others(1): Show HG00099.hp2 HG02257.hp2 HG03486.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0100 a0001c0001t0001g0164 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0100 a0001c0001t0001g0164 a0001c0001t0001g0187	4	197	0.0203	18	c.12 others(29): Show c.1242_*1243insATACATATACATATACAT		POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding					207		chrX	TogoVar
POLD1_chr19_50379347_50423014	50401391	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0123 a0001c0005t0001g0123	1	336	0.0030	18	c.317 others(33): Show c.317-386_317-385insATATATATATATATATTT		POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr19	TogoVar
POLD3_chr11_74587582_74648076	74609345	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18968.hp2 NA18985.hp2 others(1): Show HG00280.hp1 NA18968.hp2 NA18985.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0227 a0001c0002t0002g0242 a0001c0002t0002g0252 others(1): Show a0001c0002t0002g0227 a0001c0002t0002g0242 a0001c0002t0002g0252 a0001c0002t0005g0024	4	400	0.0100	18	c.220 others(35): Show c.220-2143_220-2126dupATATATATATATATATAT		POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
POLD3_chr11_74587582_74648076	74609372	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0237 a0001c0001t0006g0237	1	400	0.0025	18	c.220 others(35): Show c.220-2126_220-2125insATATATATATATATTTTT		POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
POLD3_chr11_74587582_74648076	74609372	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19043.hp2 HG03130.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0239 a0001c0001t0006g0240	2	400	0.0050	18	c.220 others(35): Show c.220-2126_220-2125insATATATATATATTTTTTT		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(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02165.hp2 HG02280.hp1 others(8): Show HG01884.hp1 HG02165.hp2 HG02280.hp1 HG02622.hp2 HG03195.hp2 HG03239.hp2 HG03491.hp1 HG03834.hp1 HG06807.hp1 NA18968.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008	a0001c0001t0006g0235 a0001c0002t0001g0102 a0001c0002t0002g0075 others(8): Show a0001c0001t0006g0235 a0001c0002t0001g0102 a0001c0002t0002g0075 a0001c0002t0002g0252 a0001c0002t0002g0266 a0001c0002t0002g0293 a0001c0002t0002g0304 a0001c0002t0004g0038 a0001c0002t0005g0024 a0001c0002t0005g0025 a0001c0002t0008g0087	11	400	0.0275	18	c.100 others(37): Show c.1007-1666_1007-1649dupCACACACACACACACACA		POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
POLD4_chr11_67345772_67358546	67347633	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 NA19066.hp2 HG00621.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0008 a0001c0001t0003g0003 a0001c0001t0003g0008	2	314	0.0064	18	c.43 others(29): Show c.4361_*4362insATATATATATTTTTTTTT		POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding					3138		chr11	TogoVar
POLD4_chr11_67345772_67358546	67347633	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02897.hp2 HG02630.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	314	0.0064	18	c.43 others(29): Show c.4361_*4362insATATATATATATTTTTTT		POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding					3138		chr11	TogoVar
POLD4_chr11_67345772_67358546	67347633	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	314	0.0032	18	c.43 others(29): Show c.4361_*4362insATATATATATATATTTTT		POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding					3138		chr11	TogoVar
POLE2_chr14_49638555_49693214	49645043	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	234	0.0043	18	c.156 others(37): Show c.1566-1374_1566-1373insTTTTTTTTTTTTTTTTTT		POLE2	ENSG00000100479.14	transcript	ENST00000216367.10	protein_coding	18/18						chr14	TogoVar
POLE2_chr14_49638555_49693214	49682640	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA20300.hp2 HG01891.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0009 a0001c0002 a0004c0009	a0001c0002t0002 a0004c0009t0002 a0001c0002t0002 a0004c0009t0002	a0001c0002t0002g0176 a0004c0009t0002g0228 a0001c0002t0002g0176 a0004c0009t0002g0228	2	234	0.0086	18	c.169 others(33): Show c.169+935_169+952dupTTTTTTTTTTTTTTTTTT		POLE2	ENSG00000100479.14	transcript	ENST00000216367.10	protein_coding	2/18						chr14	TogoVar
POLE3_chr9_113402235_113415675	113405479	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAGGAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0019 a0001c0001t0008g0019	1	356	0.0028	18	c.33 others(29): Show c.3331_*3332insGTTCCTTTTTTTTTTTTT		POLE3	ENSG00000148229.13	transcript	ENST00000374171.5	protein_coding					1755		chr9	TogoVar
POLE_chr12_132618762_132692342	132658881	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0264 a0002c0004t0001g0264	1	292	0.0034	18	c.327 others(35): Show c.3275+396_3275+413dupTTTTTTTTTTTTTTTTTT		POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	26/48						chr12	TogoVar
POLG_chr15_89311320_89339824	89325203	T T	TGAGTGAG others(11): Show TGAGTGAGTGAGAGAAAGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	398	0.0025	18	c.194 others(35): Show c.1949+246_1949+247insTCTTTCTCTCACTCACTC		POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22						chr15	TogoVar
POLG_chr15_89311320_89339824	89325259	T T	TGAGAGTG others(11): Show TGAGAGTGAGTGAGTGAGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03098.hp2 HG02723.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0093 a0001c0001t0001g0094	2	398	0.0050	18	c.194 others(35): Show c.1949+190_1949+191insTCTCACTCACTCACTCTC		POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22						chr15	TogoVar
POLG_chr15_89311320_89339824	89325263	T T	TGAGAGTG others(11): Show TGAGAGTGAGTGAGTGAGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	398	0.0025	18	c.194 others(35): Show c.1949+186_1949+187insTCTCACTCACTCACTCTC		POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22						chr15	TogoVar
POLK_chr5_75506891_75614991	75595248	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG04228.hp1 HG02896.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0026 a0001c0002t0002 a0001c0001t0026 a0001c0002t0002	a0001c0001t0026g0181 a0001c0002t0002g0140 a0001c0001t0026g0181 a0001c0002t0002g0140	2	356	0.0056	18	c.152 others(35): Show c.1529-966_1529-949dupAAAAAAAAAAAAAAAAAA		POLK	ENSG00000122008.16	transcript	ENST00000241436.9	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
POLL_chr10_101573882_101593257	101580412	T T	TACCTGGG others(11): Show TACCTGGGAAAGAGAGCGG	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	NA18968.hp1 NA18968.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0025 a0007c0007t0001g0025	1	394	0.0025	18	c.119 others(27): Show c.1198_1199insCCGCTCTCTTTCCCAGGT	p.Gln others(30): Show p.Gln400delinsProAlaLeuPheProArgTer	POLL	ENSG00000166169.17	transcript	ENST00000370162.8	protein_coding	8/9	1680/2781	1198/1728	400/575			chr10	TogoVar
POLN_chr4_2066918_2247121	2243987	G G	GACACAGA others(11): Show GACACAGAGACAGAGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00735.hp1 others(74): Show HG00558.hp2 HG00597.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01167.hp2 HG01168.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18971.hp2 NA18986.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19086.hp1 NA21309.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0010	a0001c0002 a0001c0003 a0001c0011 others(5): Show a0001c0002 a0001c0003 a0001c0011 a0001c0013 a0002c0001 a0005c0006 a0006c0005 a0010c0012	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(6): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0011t0001 a0001c0013t0001 a0002c0001t0001 a0005c0006t0001 a0006c0005t0001 a0010c0012t0001	a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 others(74): Show a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0003t0001g0065 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0083 a0001c0003t0002g0004 a0001c0003t0002g0005 a0001c0003t0002g0006 a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0011t0001g0028 a0001c0013t0001g0027 a0002c0001t0001g0099 a0002c0001t0001g0143 a0005c0006t0001g0001 a0005c0006t0001g0002 a0005c0006t0001g0003 a0006c0005t0001g0085 a0010c0012t0001g0059	77	194	0.3969	18	c.-22 others(29): Show c.-2221_-2220insGTCTCTCTGTCTCTGTGT		POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding					1867		chr4	TogoVar
POLN_chr4_2066918_2247121	2244031	T T	TAGAGACA others(11): Show TAGAGACAGAGACAGACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00735.hp1 others(65): Show HG00558.hp2 HG00597.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01168.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02109.hp2 HG02145.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03139.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03579.hp1 HG03927.hp2 NA18612.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18959.hp1 NA18962.hp2 NA18971.hp2 NA18986.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19086.hp1 NA21309.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0002 a0001c0003 a0001c0011 others(3): Show a0001c0002 a0001c0003 a0001c0011 a0001c0013 a0002c0001 a0010c0012	a0001c0002t0001 a0001c0003t0001 a0001c0011t0001 others(3): Show a0001c0002t0001 a0001c0003t0001 a0001c0011t0001 a0001c0013t0001 a0002c0001t0001 a0010c0012t0001	a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 others(65): Show a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0003t0001g0065 a0001c0003t0001g0075 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0011t0001g0028 a0001c0013t0001g0027 a0002c0001t0001g0099 a0002c0001t0001g0143 a0010c0012t0001g0059	68	194	0.3505	18	c.-22 others(29): Show c.-2265_-2264insCTGTCTGTCTCTGTCTCT		POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding					1911		chr4	TogoVar
POLQ_chr3_121426431_121550988	121519359	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	318	0.0031	18	c.146 others(35): Show c.1468+494_1468+511dupATATATATATATATATAT		POLQ	ENSG00000051341.15	transcript	ENST00000264233.6	protein_coding	9/29						chr3	TogoVar
POLR1A_chr2_86015216_86110886	86071227	C C	CGTGTGCG others(11): Show CGTGTGCGCGCGCGTGTGT	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA18946.hp2 NA18990.hp1 others(2): Show HG02738.hp2 NA18946.hp2 NA18990.hp1 NA19001.hp1 NA19082.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0007 a0003c0004t0059 a0003c0004t0006 a0003c0004t0007 a0003c0004t0059	a0003c0004t0006g0136 a0003c0004t0006g0145 a0003c0004t0007g0121 others(2): Show a0003c0004t0006g0136 a0003c0004t0006g0145 a0003c0004t0007g0121 a0003c0004t0007g0138 a0003c0004t0059g0130	5	340	0.0147	18	c.161 others(35): Show c.1612-956_1612-955insACACACGCGCGCGCACAC		POLR1A	ENSG00000068654.17	transcript	ENST00000263857.11	protein_coding	12/33						chr2	TogoVar
POLR1A_chr2_86015216_86110886	86097214	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03195.hp2 HG03471.hp2 others(1): Show HG02897.hp2 HG03195.hp2 HG03471.hp2 HG04228.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0011 a0005c0006t0045 a0005c0006t0046 a0005c0006t0011 a0005c0006t0045 a0005c0006t0046	a0005c0006t0011g0109 a0005c0006t0011g0111 a0005c0006t0045g0110 others(1): Show a0005c0006t0011g0109 a0005c0006t0011g0111 a0005c0006t0045g0110 a0005c0006t0046g0114	4	340	0.0118	18	c.432 others(35): Show c.432+1379_432+1396dupTTTTTTTTTTTTTTTTTT		POLR1A	ENSG00000068654.17	transcript	ENST00000263857.11	protein_coding	3/33						chr2	TogoVar
POLR1G_chr19_45401644_45415737	45410565	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG01099.hp1 HG01175.hp1 others(32): Show HG00544.hp2 HG01099.hp1 HG01175.hp1 HG01433.hp1 HG01891.hp1 HG01975.hp2 HG02004.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02300.hp2 HG02809.hp1 HG02922.hp2 HG02970.hp1 HG03139.hp1 HG03516.hp2 HG04184.hp1 HG04199.hp2 NA18947.hp2 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18992.hp1 NA18999.hp1 NA19002.hp2 NA19063.hp1 NA19064.hp1 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0007c0010	a0001c0001t0091 a0002c0002t0008 a0002c0002t0031 others(9): Show a0001c0001t0091 a0002c0002t0008 a0002c0002t0031 a0002c0002t0034 a0002c0002t0036 a0003c0003t0010 a0003c0003t0028 a0003c0003t0042 a0004c0004t0049 a0004c0004t0051 a0004c0004t0112 a0007c0010t0010	a0001c0001t0091g0004 a0002c0002t0008g0002 a0002c0002t0008g0016 others(12): Show a0001c0001t0091g0004 a0002c0002t0008g0002 a0002c0002t0008g0016 a0002c0002t0031g0002 a0002c0002t0034g0002 a0002c0002t0034g0017 a0002c0002t0036g0002 a0003c0003t0010g0001 a0003c0003t0028g0001 a0003c0003t0028g0015 a0003c0003t0042g0001 a0004c0004t0049g0001 a0004c0004t0051g0001 a0004c0004t0112g0001 a0007c0010t0010g0001	35	406	0.0862	18	c.10 others(29): Show c.1079_*1096dupTGTGTGTGTGTGTGTGTG		POLR1G	ENSG00000117877.11	transcript	ENST00000309424.8	protein_coding	3/3				1097	INFO_REALIGN_3_PRIME	chr19	TogoVar
POLR1G_chr19_45401644_45415737	45410596	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0004 a0001c0001t0096g0004	1	406	0.0025	18	c.10 others(29): Show c.1096_*1097insTGTGTGTGTGTGTGTGGG		POLR1G	ENSG00000117877.11	transcript	ENST00000309424.8	protein_coding	3/3				1097	INFO_REALIGN_3_PRIME	chr19	TogoVar
POLR2B_chr4_56973896_57036158	56996206	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01515.hp2 NA19055.hp2 others(1): Show HG01109.hp1 HG01515.hp2 NA19055.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0102 a0001c0002t0001g0103 others(1): Show a0001c0002t0001g0092 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105	4	382	0.0105	18	c.735 others(33): Show c.735+813_735+830dupGTGTGTGTGTGTGTGTGT		POLR2B	ENSG00000047315.17	transcript	ENST00000314595.6	protein_coding	6/24					INFO_REALIGN_3_PRIME	chr4	TogoVar
POLR2B_chr4_56973896_57036158	56996236	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0098	1	382	0.0026	18	c.735 others(33): Show c.735+830_735+831insGTGTGTGTGTGTGTATGT		POLR2B	ENSG00000047315.17	transcript	ENST00000314595.6	protein_coding	6/24					INFO_REALIGN_3_PRIME	chr4	TogoVar
POLR2C_chr16_57457679_57477009	57471735	T T	TGGTGGGG others(11): Show TGGTGGGGGTGGGGGTGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 HG03486.hp1 HG03579.hp2 others(2): Show HG00609.hp2 HG03486.hp1 HG03579.hp2 NA18963.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0005 a0001c0001t0005 a0001c0002t0005	a0001c0001t0005g0021 a0001c0001t0005g0034 a0001c0002t0005g0002 a0001c0001t0005g0021 a0001c0001t0005g0034 a0001c0002t0005g0002	5	390	0.0128	18	c.62 others(27): Show c.628_*645dupGGGTGGGGGTGGGGGTGG		POLR2C	ENSG00000102978.13	transcript	ENST00000219252.10	protein_coding	9/9				646	INFO_REALIGN_3_PRIME	chr16	TogoVar
POLR2C_chr16_57457679_57477009	57475693	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	390	0.0026	18	c.45 others(29): Show c.4574_*4575insCTCTCTCTCTCTCTCTCC		POLR2C	ENSG00000102978.13	transcript	ENST00000219252.10	protein_coding					3685		chr16	TogoVar
POLR2D_chr2_127838553_127863155	127844107	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0228 a0001c0001t0044g0228	1	358	0.0028	18	c.39 others(29): Show c.3982_*3999dupTTTTTTTTTTTTTTTTTT		POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	4/4				3999		chr2	TogoVar
POLR2D_chr2_127838553_127863155	127856290	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02451.hp2 HG02647.hp2 others(10): Show HG00609.hp2 HG02451.hp2 HG02647.hp2 HG02809.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp2 HG03195.hp2 HG03654.hp2 NA18955.hp1 NA18959.hp2 NA18986.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0184 a0001c0001t0001g0246 a0001c0001t0004g0030 others(9): Show a0001c0001t0001g0184 a0001c0001t0001g0246 a0001c0001t0004g0030 a0001c0001t0004g0180 a0001c0001t0004g0183 a0001c0001t0004g0185 a0001c0001t0004g0250 a0001c0001t0006g0179 a0001c0001t0006g0181 a0001c0001t0006g0186 a0001c0001t0007g0045 a0001c0001t0007g0182	13	358	0.0363	18	c.73+ others(33): Show c.73+1720_73+1737dupTTTTTTTTTTTTTTTTTT		POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	1/3						chr2	TogoVar
POLR2G_chr11_62756580_62771710	62757118	A A	ATATATAT others(11): Show ATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02735.hp1 HG02683.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	368	0.0054	18	c.-45 others(29): Show c.-4531_-4530insTATATATATATATATATG		POLR2G	ENSG00000168002.12	transcript	ENST00000301788.12	protein_coding					4461		chr11	TogoVar
POLR3A_chr10_77970149_78034515	77982038	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	374	0.0027	18	c.375 others(34): Show c.3759+98_3759+115dupTTTTTTTTTTTTTTTTTT		POLR3A	ENSG00000148606.15	transcript	ENST00000372371.8	protein_coding	28/30						chr10	TogoVar
POLR3A_chr10_77970149_78034515	78030446	C C	CTATATAT others(11): Show CTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01978.hp2 HG03017.hp2 others(4): Show HG01167.hp1 HG01978.hp2 HG03017.hp2 NA18963.hp1 NA18979.hp2 NA19077.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0001t0002 a0001c0018t0002 a0001c0001t0001 a0001c0001t0002 a0001c0018t0002	a0001c0001t0001g0075 a0001c0001t0001g0116 a0001c0001t0002g0052 others(4): Show a0001c0001t0001g0075 a0001c0001t0001g0116 a0001c0001t0002g0052 a0001c0001t0002g0152 a0001c0001t0002g0181 a0001c0001t0002g0187 a0001c0018t0002g0039	7	374	0.0187	18	c.-10 others(29): Show c.-1040_-1039insTATATATATATATATATA		POLR3A	ENSG00000148606.15	transcript	ENST00000372371.8	protein_coding					932		chr10	TogoVar
POLR3B_chr12_106352748_106515198	106357635	C C	CCTGCGCC others(11): Show CCTGCGCCAGACCTCCGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 NA18948.hp1 NA18971.hp1 HG02165.hp2 NA18948.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0004t0002g0126 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0004t0002g0126	3	304	0.0099	18	c.-24 others(27): Show c.-245_-244insCTGCGCCAGACCTCCGAG		POLR3B	ENSG00000013503.10	transcript	ENST00000228347.9	protein_coding					112		chr12	TogoVar
POLR3B_chr12_106352748_106515198	106405539	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0240 a0001c0002t0002g0240	1	304	0.0033	18	c.847 others(33): Show c.847-294_847-277dupCACACACACACACACACA		POLR3B	ENSG00000013503.10	transcript	ENST00000228347.9	protein_coding	10/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
POLR3C_chr1_145819200_145849402	145821457	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02615.hp2 HG02886.hp1 others(1): Show HG02300.hp2 HG02615.hp2 HG02886.hp1 NA19075.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0002 a0001c0001t0009 a0001c0001t0023 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0023 a0008c0009t0003	a0001c0001t0002g0002 a0001c0001t0009g0002 a0001c0001t0023g0002 others(1): Show a0001c0001t0002g0002 a0001c0001t0009g0002 a0001c0001t0023g0002 a0008c0009t0003g0002	4	368	0.0109	18	c.-29 others(29): Show c.-2933_-2932insTTTTTTTTTTTTTTTTTT		POLR3C	ENSG00000186141.10	transcript	ENST00000334163.4	protein_coding					2742		chr1	TogoVar
POLR3E_chr16_22292409_22340096	22303639	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA19000.hp1 HG03491.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0101 a0001c0001t0001g0104	2	358	0.0056	18	c.36+ others(31): Show c.36+636_36+653dupTTTTTTTTTTTTTTTTTT		POLR3E	ENSG00000058600.16	transcript	ENST00000299853.10	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
POLR3F_chr20_18462390_18489646	18480336	T T	TATAAAGT others(11): Show TATAAAGTGTATTCAGAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	452	0.0022	18	c.574 others(31): Show c.574-64_574-47dupTAAAGTGTATTCAGAAAA		POLR3F	ENSG00000132664.13	transcript	ENST00000377603.5	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr20	TogoVar
POLR3GL_chr1_145959690_145983848	145981608	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	372	0.0027	18	c.31 others(29): Show c.3161_*3162insAAAAAAAAAAAAAAAAAA		POLR3GL	ENSG00000121851.13	transcript	ENST00000369314.2	protein_coding					2761		chr1	TogoVar
POLR3G_chr5_90469864_90519557	90470785	C C	CACACACA others(11): Show CACACACACACACACACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 NA18994.hp2 NA19076.hp2 HG01346.hp1 NA18994.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0005g0154 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0005g0154	3	366	0.0082	18	c.-42 others(29): Show c.-4279_-4278insACACACACACACACACAA		POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding					4078		chr5	TogoVar
POLR3G_chr5_90469864_90519557	90478569	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0316 a0001c0001t0024g0316	1	366	0.0027	18	c.-44 others(35): Show c.-44+3566_-44+3567insTTTTTTTTTTTTTTTTTT		POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
POLR3G_chr5_90469864_90519557	90514755	A A	AACACACA others(11): Show AACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(41): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00673.hp2 HG01069.hp1 HG01070.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02293.hp2 HG02572.hp2 HG02615.hp1 HG02683.hp1 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 NA18747.hp2 NA18943.hp1 NA18945.hp1 NA18961.hp2 NA18973.hp2 NA18978.hp2 NA18993.hp2 NA18998.hp1 NA19002.hp2 NA19005.hp2 NA19055.hp2 NA19082.hp2 NA19090.hp2 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0018 a0001c0001t0020 a0001c0001t0032 a0001c0001t0039	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0012 others(38): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0093 a0001c0001t0002g0216 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0005g0003 a0001c0001t0005g0005 a0001c0001t0005g0016 a0001c0001t0005g0052 a0001c0001t0005g0064 a0001c0001t0005g0069 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0162 a0001c0001t0005g0186 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0200 a0001c0001t0005g0250 a0001c0001t0005g0287 a0001c0001t0010g0098 a0001c0001t0018g0005 a0001c0001t0018g0053 a0001c0001t0020g0003 a0001c0001t0020g0055 a0001c0001t0032g0017 a0001c0001t0039g0046	44	366	0.1202	18	c.26 others(29): Show c.2616_*2617insACACACACACACACACAC		POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding					199		chr5	TogoVar
POLR3K_chr16_41407_58608	44314	A A	AACACACA others(11): Show AACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp2 others(59): Show HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00558.hp1 HG00609.hp2 HG00673.hp1 HG01074.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp2 HG01255.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp1 HG02572.hp1 HG02602.hp2 HG02698.hp1 HG02965.hp1 HG03471.hp1 HG03491.hp2 HG06807.hp1 NA18612.hp1 NA18941.hp2 NA18946.hp1 NA18950.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18979.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19004.hp2 NA19009.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19081.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0026	a0001c0001t0001g0002 a0001c0001t0001g0195 a0001c0001t0002g0005 others(46): Show a0001c0001t0001g0002 a0001c0001t0001g0195 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0038 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0127 a0001c0001t0003g0009 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0069 a0001c0001t0004g0073 a0001c0001t0004g0078 a0001c0001t0004g0102 a0001c0001t0004g0122 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0005g0135 a0001c0001t0005g0145 a0001c0001t0005g0147 a0001c0001t0006g0162 a0001c0001t0007g0031 a0001c0001t0007g0033 a0001c0001t0007g0111 a0001c0001t0012g0095 a0001c0001t0012g0117 a0001c0001t0013g0091 a0001c0001t0013g0110 a0001c0001t0013g0112 a0001c0001t0015g0029 a0001c0001t0026g0124	62	432	0.1435	18	c.31 others(29): Show c.3115_*3116insGTGTGTGTGTGTGTGTGT		POLR3K	ENSG00000161980.6	transcript	ENST00000293860.6	protein_coding					2092		chr16	TogoVar
POLRMT_chr19_612221_638537	612393	G G	GGTGGGTG others(11): Show GGTGGGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01168.hp2 HG00099.hp1 HG01168.hp2	a0004 a0026 a0004 a0026	a0004c0004 a0026c0045 a0004c0004 a0026c0045	a0004c0004t0003 a0026c0045t0002 a0004c0004t0003 a0026c0045t0002	a0004c0004t0003g0292 a0026c0045t0002g0247 a0004c0004t0003g0292 a0026c0045t0002g0247	2	422	0.0047	18	c.48 others(29): Show c.4880_*4881insACACACACACACACCCAC		POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding					4827		chr19	TogoVar
POLRMT_chr19_612221_638537	612393	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG03516.hp2 HG02647.hp2 HG03516.hp2	a0006 a0008 a0006 a0008	a0006c0008 a0008c0011 a0006c0008 a0008c0011	a0006c0008t0003 a0008c0011t0002 a0006c0008t0003 a0008c0011t0002	a0006c0008t0003g0333 a0008c0011t0002g0234 a0006c0008t0003g0333 a0008c0011t0002g0234	2	422	0.0047	18	c.48 others(29): Show c.4863_*4880dupACACACACACACACACAC		POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding					4827		chr19	TogoVar

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