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	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
POLD3_chr11_74587582_74648076	74609364	ATATATAT others(8): Show ATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(59): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp2 HG01081.hp1 HG01516.hp1 HG01934.hp1 HG01975.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp1 HG02922.hp1 HG03834.hp2 HG04199.hp1 NA18612.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18946.hp2 NA18951.hp1 NA18952.hp2 NA18959.hp2 NA18967.hp2 NA18971.hp1 NA18973.hp2 NA18977.hp2 NA18980.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19009.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19077.hp1 NA19078.hp1 NA19081.hp2 NA19082.hp2 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0001c0001t0007 a0005c0008t0007 a0001c0001t0001 a0001c0001t0007 a0005c0008t0007	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(41): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0007g0015 a0001c0001t0007g0130 a0001c0001t0007g0180 a0001c0001t0007g0209 a0005c0008t0007g0202	62	400	0.1550	-15	c.220 others(32): Show c.220-2133_220-2119delATATATATTTTTTTT		POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
POLD3_chr11_74587582_74648076	74609366	ATATATAT others(8): Show ATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp2 HG01891.hp2 others(6): Show HG00099.hp1 HG01074.hp2 HG01891.hp2 HG02257.hp2 HG02280.hp2 HG02602.hp2 HG02683.hp1 NA18993.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0114 a0001c0001t0001g0141 a0001c0001t0001g0142 others(6): Show a0001c0001t0001g0114 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0215 a0001c0001t0001g0222 a0001c0001t0001g0306 a0001c0009t0001g0154	9	400	0.0225	-15	c.220 others(32): Show c.220-2131_220-2117delATATATTTTTTTTTT		POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
POLD3_chr11_74587582_74648076	74609368	ATATATTT others(8): Show ATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp1 HG02615.hp2 others(12): Show HG02109.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp2 HG03139.hp1 HG03453.hp1 HG03486.hp2 NA18522.hp1 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0113 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0134	15	400	0.0375	-15	c.220 others(32): Show c.220-2129_220-2115delATATTTTTTTTTTTT		POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
POLD4_chr11_67345772_67358546	67347624	AAAAAAAA others(8): Show AAAAAAAAAAATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0007	1	314	0.0032	-15	c.43 others(26): Show c.4356_*4370delATATATTTTTTTTTT		POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding					3147		chr11	TogoVar
POLE2_chr14_49638555_49693214	49646302	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	234	0.0043	-15	c.156 others(32): Show c.1565+976_1565+990delAAAAAAAAAAAAAAA		POLE2	ENSG00000100479.14	transcript	ENST00000216367.10	protein_coding	18/18						chr14	TogoVar
POLE2_chr14_49638555_49693214	49652263	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	234	0.0043	-15	c.121 others(32): Show c.1212-901_1212-887delTTTTTTTTTTTTTTT		POLE2	ENSG00000100479.14	transcript	ENST00000216367.10	protein_coding	15/18						chr14	TogoVar
POLE_chr12_132618762_132692342	132628644	TCAAAACA others(8): Show TCAAAACAAAACAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00544.hp1 others(48): Show HG00140.hp1 HG00280.hp1 HG00544.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01516.hp2 HG01928.hp2 HG01993.hp1 HG02027.hp2 HG02055.hp1 HG02145.hp1 HG02148.hp2 HG02523.hp2 HG02615.hp2 HG02723.hp1 HG02970.hp1 HG03130.hp1 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG04204.hp1 NA18942.hp2 NA18955.hp1 NA18967.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18986.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19043.hp1 NA19074.hp1 NA19078.hp1 NA19082.hp1 NA19084.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0009 a0014	a0001c0005 a0001c0041 a0002c0004 others(6): Show a0001c0005 a0001c0041 a0002c0004 a0002c0006 a0002c0021 a0002c0042 a0007c0010 a0009c0015 a0014c0040	a0001c0005t0003 a0001c0005t0004 a0001c0005t0008 others(8): Show a0001c0005t0003 a0001c0005t0004 a0001c0005t0008 a0001c0041t0010 a0002c0004t0001 a0002c0006t0001 a0002c0021t0001 a0002c0042t0001 a0007c0010t0003 a0009c0015t0003 a0014c0040t0004	a0001c0005t0003g0178 a0001c0005t0003g0179 a0001c0005t0003g0183 others(46): Show a0001c0005t0003g0178 a0001c0005t0003g0179 a0001c0005t0003g0183 a0001c0005t0003g0184 a0001c0005t0003g0186 a0001c0005t0003g0187 a0001c0005t0003g0188 a0001c0005t0003g0189 a0001c0005t0003g0190 a0001c0005t0003g0275 a0001c0005t0004g0175 a0001c0005t0004g0191 a0001c0005t0008g0185 a0001c0041t0010g0013 a0002c0004t0001g0011 a0002c0004t0001g0251 a0002c0004t0001g0252 a0002c0004t0001g0253 a0002c0004t0001g0254 a0002c0004t0001g0255 a0002c0004t0001g0257 a0002c0004t0001g0258 a0002c0004t0001g0259 a0002c0004t0001g0261 a0002c0004t0001g0262 a0002c0004t0001g0264 a0002c0004t0001g0273 a0002c0006t0001g0007 a0002c0006t0001g0054 a0002c0006t0001g0055 a0002c0006t0001g0265 a0002c0006t0001g0266 a0002c0006t0001g0267 a0002c0006t0001g0268 a0002c0006t0001g0269 a0002c0006t0001g0270 a0002c0006t0001g0271 a0002c0006t0001g0272 a0002c0006t0001g0274 a0002c0021t0001g0256 a0002c0021t0001g0260 a0002c0042t0001g0263 a0007c0010t0003g0176 a0007c0010t0003g0177 a0007c0010t0003g0180 a0007c0010t0003g0181 a0009c0015t0003g0021 a0009c0015t0003g0022 a0014c0040t0004g0192	51	292	0.1747	-15	c.633 others(34): Show c.6331-2342_6331-2328delTTTTGTTTTGTTTTG		POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	45/48						chr12	TogoVar
POLE_chr12_132618762_132692342	132639952	AAAAACAA others(8): Show AAAAACAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02965.hp1 HG02145.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0041 a0001c0001 a0001c0041	a0001c0001t0001 a0001c0041t0010 a0001c0001t0001 a0001c0041t0010	a0001c0001t0001g0150 a0001c0041t0010g0013 a0001c0001t0001g0150 a0001c0041t0010g0013	2	292	0.0069	-15	c.537 others(32): Show c.5379-669_5379-655delGTTTTGTTTTGTTTT		POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	39/48						chr12	TogoVar
POLE_chr12_132618762_132692342	132689289	GGGCGCGG others(8): Show GGGCGCGGGTCCGCAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0005 a0013c0020t0005	a0013c0020t0005g0033 a0013c0020t0005g0033	1	292	0.0034	-15	c.-19 others(26): Show c.-1989_-1975delGTGCGGACCCGCGCC		POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding					1948		chr12	TogoVar
POLH_chr6_43571185_43625523	43619364	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp2 NA19043.hp1 NA19240.hp1 others(1): Show NA19030.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0069 a0001c0001t0073 others(1): Show a0001c0001t0049 a0001c0001t0069 a0001c0001t0073 a0001c0001t0074	a0001c0001t0049g0196 a0001c0001t0069g0074 a0001c0001t0073g0092 others(1): Show a0001c0001t0049g0196 a0001c0001t0069g0074 a0001c0001t0073g0092 a0001c0001t0074g0091	4	262	0.0153	-15	c.48 others(26): Show c.4823_*4837delAAAAAAAAAAAAAAA		POLH	ENSG00000170734.12	transcript	ENST00000372236.9	protein_coding	11/11				4823	INFO_REALIGN_3_PRIME	chr6	TogoVar
POLM_chr7_44067062_44087530	44071355	AAATACTG others(8): Show AAATACTGCAACTATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG02257.hp1 HG01433.hp2 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0092 a0001c0002t0002g0093	2	394	0.0051	-15	c.19 others(26): Show c.1921_*1935delGATAGTTGCAGTATT		POLM	ENSG00000122678.17	transcript	ENST00000242248.10	protein_coding					706		chr7	TogoVar
POLN_chr4_2066918_2247121	2105804	GTGATGAT others(8): Show GTGATGATGATGATGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02723.hp2 others(2): Show HG02055.hp1 HG02451.hp1 HG02723.hp2 HG03579.hp1 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0005 a0001c0002 a0005c0005	a0001c0002t0001 a0005c0005t0001 a0001c0002t0001 a0005c0005t0001	a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 others(2): Show a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0005c0005t0001g0084	5	194	0.0258	-15	c.198 others(34): Show c.1983-9886_1983-9872delTCATCATCATCATCA		POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	19/25						chr4	TogoVar
POLN_chr4_2066918_2247121	2113859	AAATAATA others(8): Show AAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG01891.hp2 HG02280.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0152 a0002c0001t0001g0153 a0002c0001t0001g0152 a0002c0001t0001g0153	2	194	0.0103	-15	c.198 others(36): Show c.1982+14239_1982+14253delATTATTATTATTATT		POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	19/25						chr4	TogoVar
POLN_chr4_2066918_2247121	2164802	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0143 a0002c0001t0001g0143	1	194	0.0052	-15	c.155 others(34): Show c.1555-5606_1555-5592delTTTTTTTTTTTTTTT		POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	13/25						chr4	TogoVar
POLN_chr4_2066918_2247121	2188624	CAAAACAA others(8): Show CAAAACAAAACAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00609.hp2 others(90): Show HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01975.hp1 HG01978.hp2 HG01981.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 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18971.hp2 NA18972.hp1 NA18975.hp1 NA18986.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp2 NA19086.hp1 NA20805.hp2 NA21309.hp1	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0002 a0001c0003 a0001c0014 others(3): Show a0001c0002 a0001c0003 a0001c0014 a0001c0016 a0006c0006 a0009c0015	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(5): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0014t0001 a0001c0016t0001 a0006c0006t0001 a0009c0015t0001	a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 others(90): 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 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0003t0001g0065 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0083 a0001c0003t0002g0004 a0001c0003t0002g0005 a0001c0003t0002g0006 a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 a0001c0003t0002g0184 a0001c0003t0002g0185 a0001c0003t0002g0186 a0001c0003t0002g0187 a0001c0003t0002g0188 a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0191 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0003g0011 a0001c0003t0003g0012 a0001c0014t0001g0028 a0001c0016t0001g0027 a0006c0006t0001g0001 a0006c0006t0001g0002 a0006c0006t0001g0003 a0009c0015t0001g0059	93	194	0.4794	-15	c.102 others(34): Show c.1021+4565_1021+4579delTTTTTGTTTTGTTTT		POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	7/25						chr4	TogoVar
POLN_chr4_2066918_2247121	2210582	AAATAATA others(8): Show AAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp1 HG02896.hp1 others(2): Show HG02486.hp1 HG02630.hp1 HG02896.hp1 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0005 a0001c0003t0002g0006 a0001c0003t0002g0007 others(2): Show a0001c0003t0002g0005 a0001c0003t0002g0006 a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0009	5	194	0.0258	-15	c.214 others(32): Show c.214-2110_214-2096delATTATTATTATTATT		POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	4/25						chr4	TogoVar
POLN_chr4_2066918_2247121	2210618	TAATAATA others(8): Show TAATAATAATAATAAA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG03579.hp2 others(1): Show HG01069.hp2 HG01071.hp2 HG03579.hp2 NA19063.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0006 a0001c0002 a0006c0006	a0001c0002t0001 a0006c0006t0001 a0001c0002t0001 a0006c0006t0001	a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0047 others(1): Show a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0047 a0006c0006t0001g0003	4	194	0.0206	-15	c.214 others(32): Show c.214-2146_214-2132delTTTATTATTATTATT		POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	4/25						chr4	TogoVar
POLN_chr4_2066918_2247121	2211250	AAATAATA others(8): Show AAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02809.hp2 HG02922.hp2 others(1): Show HG02451.hp1 HG02809.hp2 HG02922.hp2 HG03209.hp1	a0002 a0005 a0002 a0005	a0002c0001 a0005c0005 a0002c0001 a0005c0005	a0002c0001t0001 a0005c0005t0001 a0002c0001t0001 a0005c0005t0001	a0002c0001t0001g0157 a0005c0005t0001g0084 a0005c0005t0001g0085 others(1): Show a0002c0001t0001g0157 a0005c0005t0001g0084 a0005c0005t0001g0085 a0005c0005t0001g0176	4	194	0.0206	-15	c.213 others(32): Show c.213+1782_213+1796delATTATTATTATTATT		POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	4/25						chr4	TogoVar
POLQ_chr3_121426431_121550988	121498319	AAAAAAAA others(8): Show AAAAAAAAAGAAAATG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02717.hp2 HG02886.hp1 others(1): Show HG02647.hp2 HG02717.hp2 HG02886.hp1 NA18975.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(1): Show a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0002c0003t0001g0067	4	318	0.0126	-15	c.215 others(32): Show c.2153+143_2153+157delCATTTTCTTTTTTTT		POLQ	ENSG00000051341.15	transcript	ENST00000264233.6	protein_coding	13/29						chr3	TogoVar
POLR1A_chr2_86015216_86110886	86077843	ACACACAC others(8): Show ACACACACACACACAC	A A	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0323 a0001c0001t0037g0323	1	340	0.0029	-15	c.138 others(29): Show c.1380+1_1380+15delGTGTGTGTGTGTGTG		POLR1A	ENSG00000068654.17	transcript	ENST00000263857.11	protein_coding	11/33						chr2	TogoVar
POLR1B_chr2_112537465_112584818	112539111	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 NA18963.hp2 HG00438.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0016 a0001c0001t0005 a0001c0001t0016	a0001c0001t0005g0001 a0001c0001t0016g0001 a0001c0001t0005g0001 a0001c0001t0016g0001	2	384	0.0052	-15	c.-33 others(26): Show c.-3383_-3369delAAAAAAAAAAAAAAA		POLR1B	ENSG00000125630.16	transcript	ENST00000263331.10	protein_coding					3353		chr2	TogoVar
POLR1B_chr2_112537465_112584818	112579208	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01257.hp1 others(13): Show HG01109.hp2 HG01243.hp1 HG01257.hp1 HG01884.hp1 HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02895.hp1 HG03041.hp1 HG03139.hp1 HG03516.hp1 NA18522.hp1 NA19043.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0001c0005 a0001c0009 others(1): Show a0001c0004 a0001c0005 a0001c0009 a0003c0006	a0001c0004t0006 a0001c0005t0006 a0001c0005t0046 others(2): Show a0001c0004t0006 a0001c0005t0006 a0001c0005t0046 a0001c0009t0006 a0003c0006t0006	a0001c0004t0006g0021 a0001c0004t0006g0058 a0001c0005t0006g0012 others(10): Show a0001c0004t0006g0021 a0001c0004t0006g0058 a0001c0005t0006g0012 a0001c0005t0006g0048 a0001c0005t0006g0049 a0001c0005t0006g0050 a0001c0005t0006g0059 a0001c0005t0006g0060 a0001c0005t0006g0061 a0001c0005t0046g0012 a0001c0009t0006g0046 a0001c0009t0006g0047 a0003c0006t0006g0022	16	384	0.0417	-15	c.34 others(26): Show c.3497_*3511delAAAAAAAAAAAAAAA		POLR1B	ENSG00000125630.16	transcript	ENST00000263331.10	protein_coding	15/15				3497	INFO_REALIGN_3_PRIME	chr2	TogoVar
POLR1D_chr13_27616892_27628449	27620496	TCGCCGCC others(8): Show TCGCCGCCGCCGCCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	438	0.0023	-15	c.-14 others(26): Show c.-1487_-1473delCGCCGCCGCCGCCGC		POLR1D	ENSG00000186184.20	transcript	ENST00000302979.5	protein_coding					1395		chr13	TogoVar
POLR1E_chr9_37480948_37508697	37500155	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00544.hp2 others(84): Show HG00099.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG01070.hp1 HG01099.hp2 HG01192.hp2 HG01256.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02523.hp2 HG02602.hp1 HG02630.hp1 HG02717.hp1 HG02896.hp1 HG02897.hp1 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 NA18747.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18949.hp2 NA18951.hp2 NA18966.hp2 NA18967.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18987.hp2 NA18993.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp1 NA19076.hp1 NA19077.hp2 NA19083.hp1 NA19086.hp2 NA19088.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0007 others(25): Show a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0010 a0002c0002t0002g0013 a0002c0002t0002g0021 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0043 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0102 a0002c0002t0002g0104 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137	87	408	0.2132	-15	c.887 others(30): Show c.887-655_887-641delGTTTTGTTTTGTTTT		POLR1E	ENSG00000137054.16	transcript	ENST00000377798.9	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr9	TogoVar
POLR1H_chr6_30056265_30069907	30062714	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0064 a0001c0002t0004g0064	1	445	0.0023	-15	c.356 others(30): Show c.356+396_356+410delTTTTTTTTTTTTTTT		POLR1H	ENSG00000066379.15	transcript	ENST00000332435.10	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
POLR2B_chr4_56973896_57036158	56993307	AAAACAAA others(8): Show AAAACAAAACAAAATG	A A	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18945.hp1 NA18955.hp1 others(6): Show NA18747.hp1 NA18945.hp1 NA18955.hp1 NA18963.hp1 NA18964.hp2 NA18970.hp2 NA18983.hp2 NA19000.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0303 a0001c0002t0001g0313 others(5): Show a0001c0002t0001g0019 a0001c0002t0001g0303 a0001c0002t0001g0313 a0001c0002t0001g0315 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0339 a0001c0002t0001g0340	9	382	0.0236	-15	c.244 others(32): Show c.244-1083_244-1069delTGAAACAAAACAAAA		POLR2B	ENSG00000047315.17	transcript	ENST00000314595.6	protein_coding	3/24					INFO_REALIGN_3_PRIME	chr4	TogoVar
POLR2E_chr19_1081574_1100375	1091321	GCTGGTGG others(8): Show GCTGGTGGGCCAGGGA	G G	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0262 a0001c0001t0002g0262	1	442	0.0023	-15	c.349 others(30): Show c.349-348_349-334delTCCCTGGCCCACCAG		POLR2E	ENSG00000099817.12	transcript	ENST00000615234.5	protein_coding	3/7						chr19	TogoVar
POLR2E_chr19_1081574_1100375	1098282	CCACAGGT others(8): Show CCACAGGTTGGGGTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0198 a0001c0001t0004g0198	1	442	0.0023	-15	c.-29 others(26): Show c.-2982_-2968delCCACCCCAACCTGTG		POLR2E	ENSG00000099817.12	transcript	ENST00000615234.5	protein_coding					2908		chr19	TogoVar
POLR2M_chr15_57701714_57722557	57713820	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02523.hp1 HG02896.hp1 others(1): Show HG02015.hp1 HG02523.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0030 a0001c0001t0008g0040 a0001c0001t0001g0030 a0001c0001t0008g0040	4	404	0.0099	-15	c.964 others(30): Show c.964-691_964-677delTTTTTTTTTTTTTTT		POLR2M	ENSG00000255529.9	transcript	ENST00000299638.8	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr15	TogoVar
POLR3A_chr10_77970149_78034515	78030490	GTTTTTTT others(8): Show GTTTTTTTTGTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG01891.hp2 others(28): Show HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02145.hp2 HG02257.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG06807.hp1 NA18522.hp1 NA18939.hp2 NA18948.hp2 NA18966.hp1 NA18971.hp2 NA18983.hp2 NA19043.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0001c0011 a0001c0018 a0001c0021 a0001c0022 a0001c0025 a0001c0029 a0003c0006	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0003t0001 a0001c0003t0005 a0001c0005t0001 a0001c0011t0012 a0001c0018t0008 a0001c0021t0024 a0001c0022t0012 a0001c0025t0001 a0001c0029t0007 a0003c0006t0001	a0001c0001t0001g0027 a0001c0001t0006g0320 a0001c0001t0007g0022 others(25): Show a0001c0001t0001g0027 a0001c0001t0006g0320 a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0007g0024 a0001c0001t0007g0028 a0001c0003t0001g0337 a0001c0003t0001g0338 a0001c0003t0001g0339 a0001c0003t0001g0340 a0001c0003t0001g0342 a0001c0003t0001g0343 a0001c0003t0005g0004 a0001c0003t0005g0335 a0001c0003t0005g0336 a0001c0005t0001g0017 a0001c0005t0001g0350 a0001c0005t0001g0351 a0001c0005t0001g0352 a0001c0011t0012g0344 a0001c0011t0012g0345 a0001c0018t0008g0311 a0001c0021t0024g0319 a0001c0022t0012g0328 a0001c0025t0001g0316 a0001c0029t0007g0029 a0003c0006t0001g0334 a0003c0006t0001g0341	31	374	0.0829	-15	c.-10 others(26): Show c.-1098_-1084delAAAAAACAAAAAAAA		POLR3A	ENSG00000148606.15	transcript	ENST00000372371.8	protein_coding					976		chr10	TogoVar
POLR3A_chr10_77970149_78034515	78032961	TTTTTCCT others(8): Show TTTTTCCTTTTTTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0021 a0001c0001t0017g0021	1	374	0.0027	-15	c.-35 others(26): Show c.-3569_-3555delGAAAAAAAAGGAAAA		POLR3A	ENSG00000148606.15	transcript	ENST00000372371.8	protein_coding					3447		chr10	TogoVar
POLR3A_chr10_77970149_78034515	78032967	CTTTTTTT others(8): Show CTTTTTTTTCTTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG03098.hp1 HG02723.hp2 HG03098.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0008 a0001c0009t0008	a0001c0009t0008g0305 a0001c0009t0008g0306 a0001c0009t0008g0305 a0001c0009t0008g0306	2	374	0.0054	-15	c.-35 others(26): Show c.-3575_-3561delAGAAAAGAAAAAAAA		POLR3A	ENSG00000148606.15	transcript	ENST00000372371.8	protein_coding					3453		chr10	TogoVar
POLR3A_chr10_77970149_78034515	78033548	ACCCACCT others(8): Show ACCCACCTCTAACTCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	374	0.0027	-15	c.-41 others(26): Show c.-4156_-4142delCGAGTTAGAGGTGGG		POLR3A	ENSG00000148606.15	transcript	ENST00000372371.8	protein_coding					4034		chr10	TogoVar
POLR3E_chr16_22292409_22340096	22329826	ACTATGTT others(8): Show ACTATGTTGGCCAGGC	A A	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18962.hp2 NA19010.hp1 NA18941.hp2 NA18962.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244	3	358	0.0084	-15	c.194 others(34): Show c.1944+1240_1944+1254delCTATGTTGGCCAGGC		POLR3E	ENSG00000058600.16	transcript	ENST00000299853.10	protein_coding	19/20						chr16	TogoVar
POLR3G_chr5_90469864_90519557	90493676	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02622.hp2 others(5): Show HG02451.hp2 HG02486.hp1 HG02622.hp2 HG03041.hp1 HG03209.hp1 HG03453.hp2 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0038	a0001c0001t0001g0031 a0001c0001t0004g0100 a0001c0001t0006g0222 others(5): Show a0001c0001t0001g0031 a0001c0001t0004g0100 a0001c0001t0006g0222 a0001c0001t0023g0206 a0001c0001t0025g0215 a0001c0001t0027g0041 a0001c0001t0029g0040 a0001c0001t0038g0097	8	366	0.0219	-15	c.248 others(32): Show c.248-1967_248-1953delTTTTTTTTTTTTTTT		POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
POLR3H_chr22_41520799_41549470	41544352	GCCACGCC others(8): Show GCCACGCCACGCCACT	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01081.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0036 a0001c0001t0020g0154 a0001c0001t0020g0036 a0001c0001t0020g0154	3	384	0.0078	-15	c.-26 others(24): Show c.-266_-252delAGTGGCGTGGCGTGG		POLR3H	ENSG00000100413.17	transcript	ENST00000355209.9	protein_coding	1/6				252		chr22	TogoVar
POLR3K_chr16_41407_58608	52446	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	432	0.0023	-15	c.112 others(30): Show c.112-816_112-802delTTTTTTTTTTTTTTT		POLR3K	ENSG00000161980.6	transcript	ENST00000293860.6	protein_coding	1/2						chr16	TogoVar
POM121C_chr7_75411786_75491299	75468126	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01123.hp1 HG01168.hp2 others(46): Show HG00140.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01884.hp1 HG01891.hp2 HG01975.hp2 HG01993.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp2 NA20805.hp1	a0002 a0005 a0014 others(2): Show a0002 a0005 a0014 a0024 a0030	a0002c0003 a0002c0012 a0002c0037 others(7): Show a0002c0003 a0002c0012 a0002c0037 a0002c0063 a0005c0006 a0014c0036 a0014c0051 a0014c0061 a0024c0062 a0030c0060	a0002c0003t0002 a0002c0003t0008 a0002c0003t0030 others(13): Show a0002c0003t0002 a0002c0003t0008 a0002c0003t0030 a0002c0012t0002 a0002c0012t0008 a0002c0012t0012 a0002c0012t0031 a0002c0037t0012 a0002c0063t0002 a0005c0006t0002 a0005c0006t0029 a0014c0036t0002 a0014c0051t0002 a0014c0061t0002 a0024c0062t0012 a0030c0060t0002	a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0120 others(46): Show a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0120 a0002c0003t0002g0124 a0002c0003t0002g0128 a0002c0003t0002g0129 a0002c0003t0002g0131 a0002c0003t0002g0132 a0002c0003t0002g0133 a0002c0003t0002g0134 a0002c0003t0008g0107 a0002c0003t0008g0112 a0002c0003t0008g0113 a0002c0003t0008g0115 a0002c0003t0008g0116 a0002c0003t0008g0121 a0002c0003t0008g0122 a0002c0003t0030g0114 a0002c0012t0002g0030 a0002c0012t0002g0031 a0002c0012t0002g0033 a0002c0012t0002g0035 a0002c0012t0002g0036 a0002c0012t0008g0032 a0002c0012t0012g0303 a0002c0012t0031g0034 a0002c0037t0012g0301 a0002c0037t0012g0302 a0002c0063t0002g0027 a0005c0006t0002g0103 a0005c0006t0002g0108 a0005c0006t0002g0109 a0005c0006t0002g0110 a0005c0006t0002g0111 a0005c0006t0002g0117 a0005c0006t0002g0118 a0005c0006t0002g0119 a0005c0006t0002g0123 a0005c0006t0002g0125 a0005c0006t0002g0130 a0005c0006t0002g0135 a0005c0006t0002g0137 a0005c0006t0029g0126 a0014c0036t0002g0105 a0014c0036t0002g0106 a0014c0051t0002g0102 a0014c0061t0002g0104 a0024c0062t0012g0304 a0030c0060t0002g0127	49	308	0.1591	-15	c.-15 others(34): Show c.-152+6563_-152+6577delTTTTTTTTTTTTTTT		POM121C	ENSG00000272391.6	transcript	ENST00000615331.5	protein_coding	3/14						chr7	TogoVar
POM121_chr7_72920095_72953299	72925632	GCGCCGCG others(8): Show GCGCCGCGCTCCCCAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(27): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00741.hp1 HG01109.hp2 HG01123.hp2 HG01256.hp2 HG01891.hp2 HG02040.hp1 HG02148.hp2 HG02258.hp2 HG02300.hp1 HG02602.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03139.hp1 HG03195.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 NA18747.hp2 NA18951.hp2 NA18956.hp2 NA18959.hp1 NA18990.hp2	a0007 a0009 a0015 a0007 a0009 a0015	a0007c0024 a0007c0042 a0007c0043 others(14): Show a0007c0024 a0007c0042 a0007c0043 a0007c0099 a0007c0100 a0007c0101 a0007c0103 a0007c0106 a0007c0107 a0007c0108 a0007c0109 a0009c0013 a0009c0102 a0009c0104 a0009c0105 a0015c0014 a0015c0044	a0007c0024t0007 a0007c0042t0002 a0007c0043t0012 others(15): Show a0007c0024t0007 a0007c0042t0002 a0007c0043t0012 a0007c0043t0015 a0007c0099t0007 a0007c0100t0002 a0007c0101t0007 a0007c0103t0002 a0007c0106t0001 a0007c0107t0007 a0007c0108t0026 a0007c0109t0012 a0009c0013t0001 a0009c0102t0001 a0009c0104t0001 a0009c0105t0001 a0015c0014t0001 a0015c0044t0045	a0007c0024t0007g0024 a0007c0024t0007g0152 a0007c0042t0002g0011 others(21): Show a0007c0024t0007g0024 a0007c0024t0007g0152 a0007c0042t0002g0011 a0007c0043t0012g0039 a0007c0043t0015g0003 a0007c0099t0007g0055 a0007c0100t0002g0001 a0007c0101t0007g0024 a0007c0103t0002g0050 a0007c0106t0001g0003 a0007c0107t0007g0150 a0007c0108t0026g0151 a0007c0109t0012g0039 a0009c0013t0001g0002 a0009c0013t0001g0027 a0009c0013t0001g0135 a0009c0102t0001g0003 a0009c0104t0001g0002 a0009c0105t0001g0056 a0015c0014t0001g0045 a0015c0014t0001g0060 a0015c0014t0001g0112 a0015c0014t0001g0113 a0015c0044t0045g0053	30	424	0.0708	-15	c.540 others(22): Show c.540_554delACCGCCGCGCTCCCC	p.Pro others(13): Show p.Pro181_Pro185del	POM121	ENSG00000196313.13	transcript	ENST00000434423.5	protein_coding	1/13	567/5842	540/3750	180/1249		INFO_REALIGN_3_PRIME	chr7	TogoVar
POM121_chr7_72920095_72953299	72925661	ACCGCCGC others(8): Show ACCGCCGCGCTCCCCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01934.hp2 HG01934.hp2	a0035 a0035	a0035c0113 a0035c0113	a0035c0113t0044 a0035c0113t0044	a0035c0113t0044g0059 a0035c0113t0044g0059	1	424	0.0024	-15	c.546 others(22): Show c.546_560delGCGCTCCCCCCCGCC	p.Arg others(13): Show p.Arg183_Pro187del	POM121	ENSG00000196313.13	transcript	ENST00000434423.5	protein_coding	1/13	573/5842	546/3750	182/1249		INFO_REALIGN_3_PRIME	chr7	TogoVar
POM121_chr7_72920095_72953299	72949149	GTCCTGAA others(8): Show GTCCTGAAATCCTCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02055.hp1 HG02630.hp1 others(2): Show HG01106.hp1 HG02055.hp1 HG02630.hp1 HG02809.hp2 HG02895.hp2	a0004 a0013 a0040 a0004 a0013 a0040	a0004c0022 a0013c0048 a0040c0110 a0004c0022 a0013c0048 a0040c0110	a0004c0022t0009 a0013c0048t0054 a0040c0110t0034 a0004c0022t0009 a0013c0048t0054 a0040c0110t0034	a0004c0022t0009g0052 a0004c0022t0009g0153 a0013c0048t0054g0075 others(1): Show a0004c0022t0009g0052 a0004c0022t0009g0153 a0013c0048t0054g0075 a0040c0110t0034g0043	5	424	0.0118	-15	c.29 others(26): Show c.2916_*2930delTCCTGAAATCCTCGC		POM121	ENSG00000196313.13	transcript	ENST00000434423.5	protein_coding					851		chr7	TogoVar
POMGNT2_chr3_43074234_43111079	43101918	TGGCAAGA others(8): Show TGGCAAGAAACGAGTC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	378	0.0027	-15	c.-10 others(34): Show c.-106+3903_-106+3917delGACTCGTTTCTTGCC		POMGNT2	ENSG00000144647.7	transcript	ENST00000344697.3	protein_coding	1/1						chr3	TogoVar
POMZP3_chr7_76604986_76632279	76627147	GAGGCCGA others(8): Show GAGGCCGACCAGCGAC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0018 a0004c0004t0018	a0004c0004t0018g0039 a0004c0004t0018g0039	1	423	0.0024	-15	c.-60 others(24): Show c.-606_-592delGTCGCTGGTCGGCCT		POMZP3	ENSG00000146707.15	transcript	ENST00000310842.9	protein_coding	1/7				1084		chr7	TogoVar
POP1_chr8_98112293_98164835	98115401	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00438.hp2 others(91): Show HG00280.hp1 HG00423.hp1 HG00438.hp2 HG00639.hp2 HG00735.hp2 HG01069.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02523.hp1 HG02630.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG03017.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG04115.hp1 HG04204.hp2 NA18747.hp1 NA18941.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp2 NA18961.hp1 NA18963.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18974.hp2 NA18979.hp2 NA18982.hp1 NA18985.hp1 NA18988.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18997.hp2 NA18999.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19056.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19078.hp1 NA19078.hp2 NA19082.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA21309.hp1 NA21309.hp2	a0001 a0005 a0010 others(5): Show a0001 a0005 a0010 a0013 a0014 a0017 a0021 a0023	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0005c0010 a0010c0019 a0013c0021 a0014c0015 a0017c0024 a0021c0016 a0023c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0003t0001 a0001c0004t0006 a0001c0009t0001 a0005c0010t0003 a0010c0019t0006 a0013c0021t0001 a0014c0015t0002 a0017c0024t0007 a0021c0016t0001 a0023c0028t0015	a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0001g0143 others(83): Show a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0162 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0220 a0001c0001t0001g0279 a0001c0001t0001g0292 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0342 a0001c0001t0001g0355 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0002g0001 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0197 a0001c0001t0002g0200 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0266 a0001c0001t0002g0341 a0001c0001t0003g0154 a0001c0001t0004g0262 a0001c0001t0007g0098 a0001c0001t0009g0166 a0001c0001t0009g0183 a0001c0001t0009g0190 a0001c0001t0009g0233 a0001c0001t0009g0237 a0001c0001t0009g0267 a0001c0001t0010g0036 a0001c0001t0010g0340 a0001c0001t0013g0333 a0001c0001t0013g0338 a0001c0001t0015g0001 a0001c0001t0016g0019 a0001c0003t0001g0335 a0001c0004t0006g0067 a0001c0004t0006g0068 a0001c0004t0006g0069 a0001c0004t0006g0070 a0001c0004t0006g0072 a0001c0009t0001g0330 a0001c0009t0001g0343 a0001c0009t0001g0344 a0005c0010t0003g0192 a0010c0019t0006g0066 a0013c0021t0001g0329 a0014c0015t0002g0001 a0017c0024t0007g0099 a0021c0016t0001g0325 a0023c0028t0015g0019	94	422	0.2228	-15	c.-19 others(26): Show c.-1991_-1977delAAAAAAAAAAAAAAG		POP1	ENSG00000104356.11	transcript	ENST00000401707.7	protein_coding					1891		chr8	TogoVar
POP1_chr8_98112293_98164835	98161565	CCCTCTCC others(8): Show CCCTCTCCTTTCCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG01433.hp2 others(36): Show HG00323.hp1 HG00621.hp2 HG01433.hp2 HG01884.hp1 HG02083.hp1 HG02132.hp2 HG02155.hp1 HG02486.hp1 HG02602.hp1 HG02647.hp2 HG02895.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp1 HG03516.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG04184.hp2 NA18906.hp1 NA18945.hp1 NA18947.hp2 NA18975.hp2 NA18982.hp1 NA18985.hp1 NA18988.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19062.hp2 NA19064.hp2 NA19074.hp1 NA19075.hp1 NA19078.hp2 NA19088.hp1 NA19240.hp1	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0008 a0013 a0016 a0021	a0001c0001 a0001c0003 a0001c0009 others(8): Show a0001c0001 a0001c0003 a0001c0009 a0001c0027 a0002c0002 a0002c0029 a0006c0031 a0008c0012 a0013c0021 a0016c0018 a0021c0016	a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 others(10): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 a0001c0003t0001 a0001c0009t0001 a0001c0027t0001 a0002c0002t0001 a0002c0029t0011 a0006c0031t0001 a0008c0012t0001 a0013c0021t0001 a0016c0018t0001 a0021c0016t0001	a0001c0001t0001g0035 a0001c0001t0001g0134 a0001c0001t0001g0144 others(35): Show a0001c0001t0001g0035 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0247 a0001c0001t0001g0303 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0342 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0009g0267 a0001c0001t0013g0333 a0001c0001t0013g0338 a0001c0003t0001g0033 a0001c0003t0001g0171 a0001c0003t0001g0281 a0001c0003t0001g0289 a0001c0003t0001g0302 a0001c0003t0001g0315 a0001c0003t0001g0319 a0001c0003t0001g0335 a0001c0003t0001g0337 a0001c0003t0001g0339 a0001c0009t0001g0330 a0001c0009t0001g0343 a0001c0009t0001g0344 a0001c0027t0001g0307 a0002c0002t0001g0168 a0002c0029t0011g0079 a0006c0031t0001g0268 a0008c0012t0001g0269 a0008c0012t0001g0270 a0013c0021t0001g0329 a0016c0018t0001g0301 a0021c0016t0001g0325	39	422	0.0924	-15	c.32 others(26): Show c.3295_*3309delCCTCTCCTTTCCTTT		POP1	ENSG00000104356.11	transcript	ENST00000401707.7	protein_coding					1731		chr8	TogoVar
POP4_chr19_29601283_29622237	29601991	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG03209.hp1 HG03486.hp1 others(2): Show HG02647.hp1 HG03209.hp1 HG03486.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0053 a0001c0001t0011g0031 a0001c0001t0002g0053 a0001c0001t0011g0031	5	462	0.0108	-15	c.-43 others(26): Show c.-4327_-4313delAAAAAAAAAAAAAAA		POP4	ENSG00000105171.10	transcript	ENST00000585603.6	protein_coding					4291		chr19	TogoVar
POPDC2_chr3_119637056_119665589	119662197	GGAAGGAA others(8): Show GGAAGGAAGGAAGGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0011 a0002c0002t0003g0011	1	410	0.0024	-15	c.-17 others(26): Show c.-1789_-1775delTTCCTTCCTTCCTTC		POPDC2	ENSG00000121577.14	transcript	ENST00000493094.6	protein_coding					1609		chr3	TogoVar
POR_chr7_75910155_75991855	75912207	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02622.hp2 HG02630.hp1	a0001 a0001	a0001c0026 a0001c0027 a0001c0026 a0001c0027	a0001c0026t0001 a0001c0027t0001 a0001c0026t0001 a0001c0027t0001	a0001c0026t0001g0024 a0001c0027t0001g0025 a0001c0026t0001g0024 a0001c0027t0001g0025	2	278	0.0072	-15	c.-29 others(26): Show c.-2985_-2971delAAAAAAAAAAAAAAA		POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding					2947		chr7	TogoVar
POR_chr7_75910155_75991855	75935655	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0079 a0001c0003t0001g0079	1	278	0.0036	-15	c.-13 others(34): Show c.-13-18332_-13-18318delGTGTGTGTGTGTGTT		POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
POR_chr7_75910155_75991855	75989108	GTAGGGGG others(8): Show GTAGGGGGCTAGGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0110 a0001c0006t0001g0110	1	278	0.0036	-15	c.26 others(26): Show c.2628_*2642delTAGGGGGCTAGGGGT		POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding					2254		chr7	TogoVar

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