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
POLD1_chr19_50379347_50423014	50410957	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03540.hp2 HG01943.hp2 HG03540.hp2	a0008 a0008	a0008c0019 a0008c0020 a0008c0019 a0008c0020	a0008c0019t0001 a0008c0020t0001 a0008c0019t0001 a0008c0020t0001	a0008c0019t0001g0106 a0008c0020t0001g0105 a0008c0019t0001g0106 a0008c0020t0001g0105	2	336	0.0060	15	c.215 others(34): Show c.2154+1295_2154+1309dupTTTTTTTTTTTTTTT		POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	17/26					INFO_REALIGN_3_PRIME	chr19	TogoVar
POLD3_chr11_74587582_74648076	74609373	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA18968.hp1 NA19076.hp2 others(1): Show HG03669.hp2 NA18968.hp1 NA19076.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0005 a0001c0002t0004 a0001c0002t0005	a0001c0002t0004g0051 a0001c0002t0004g0062 a0001c0002t0005g0033 others(1): Show a0001c0002t0004g0051 a0001c0002t0004g0062 a0001c0002t0005g0033 a0001c0002t0005g0294	4	400	0.0100	15	c.220 others(32): Show c.220-2126_220-2125insATATATATATATATA		POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11						chr11	TogoVar
POLD4_chr11_67345772_67358546	67347633	A A	AAAAATAT others(8): Show AAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	314	0.0032	15	c.43 others(26): Show c.4361_*4362insATATATATATATTTT		POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding					3138		chr11	TogoVar
POLDIP2_chr17_28341633_28362527	28353520	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	340	0.0029	15	c.438 others(30): Show c.438+160_438+174dupTTTTTTTTTTTTTTT		POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10						chr17	TogoVar
POLE2_chr14_49638555_49693214	49645043	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG01258.hp2 others(10): Show HG00735.hp1 HG01167.hp2 HG01258.hp2 HG01515.hp2 HG01943.hp2 HG01975.hp2 HG02004.hp2 HG02486.hp2 HG02723.hp1 HG02976.hp2 HG03239.hp2 NA18522.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0002 a0001c0002t0003	a0001c0001t0002g0065 a0001c0001t0002g0185 a0001c0001t0002g0192 others(10): Show a0001c0001t0002g0065 a0001c0001t0002g0185 a0001c0001t0002g0192 a0001c0001t0002g0211 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0177 a0001c0002t0002g0216 a0001c0002t0002g0221 a0001c0002t0002g0223 a0001c0002t0003g0215 a0001c0002t0003g0220 a0001c0002t0003g0224	13	234	0.0556	15	c.156 others(34): Show c.1566-1388_1566-1374dupTTTTTTTTTTTTTTT		POLE2	ENSG00000100479.14	transcript	ENST00000216367.10	protein_coding	18/18						chr14	TogoVar
POLE2_chr14_49638555_49693214	49682640	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02895.hp1 HG02896.hp2 others(1): Show HG01891.hp2 HG02895.hp1 HG02896.hp2 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0158 a0001c0002t0002g0206 others(1): Show a0001c0002t0002g0030 a0001c0002t0002g0158 a0001c0002t0002g0206 a0001c0002t0002g0207	4	234	0.0171	15	c.169 others(30): Show c.169+938_169+952dupTTTTTTTTTTTTTTT		POLE2	ENSG00000100479.14	transcript	ENST00000216367.10	protein_coding	2/18						chr14	TogoVar
POLE_chr12_132618762_132692342	132658881	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0273 a0002c0004t0001g0273	1	292	0.0034	15	c.327 others(32): Show c.3275+399_3275+413dupTTTTTTTTTTTTTTT		POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	26/48						chr12	TogoVar
POLE_chr12_132618762_132692342	132687721	G G	GCCGCGGC others(8): Show GCCGCGGCGGGCGCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0003 a0009c0015t0003	a0009c0015t0003g0023 a0009c0015t0003g0023	1	292	0.0034	15	c.-42 others(24): Show c.-421_-407dupGAGCGCCCGCCGCGG		POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding					380		chr12	TogoVar
POLH_chr6_43571185_43625523	43598201	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02886.hp1 HG02895.hp2 others(2): Show HG02559.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0030 a0001c0001t0004 a0001c0001t0030	a0001c0001t0004g0043 a0001c0001t0004g0049 a0001c0001t0004g0054 others(1): Show a0001c0001t0004g0043 a0001c0001t0004g0049 a0001c0001t0004g0054 a0001c0001t0030g0010	5	262	0.0191	15	c.660 others(30): Show c.660+339_660+353dupAAAAAAAAAAAAAAA		POLH	ENSG00000170734.12	transcript	ENST00000372236.9	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
POLK_chr5_75506891_75614991	75595248	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02615.hp2 HG02818.hp2 others(6): Show HG01109.hp1 HG02615.hp2 HG02818.hp2 HG02970.hp1 HG03486.hp1 HG03540.hp1 NA19067.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0019 a0001c0001t0036 others(6): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0036 a0001c0001t0107 a0001c0001t0108 a0001c0001t0113 a0001c0001t0130 a0001c0002t0074 a0001c0003t0033	a0001c0001t0001g0076 a0001c0001t0019g0250 a0001c0001t0036g0246 others(6): Show a0001c0001t0001g0076 a0001c0001t0019g0250 a0001c0001t0036g0246 a0001c0001t0107g0178 a0001c0001t0108g0176 a0001c0001t0113g0179 a0001c0001t0130g0244 a0001c0002t0074g0164 a0001c0003t0033g0191	9	356	0.0253	15	c.152 others(32): Show c.1529-963_1529-949dupAAAAAAAAAAAAAAA		POLK	ENSG00000122008.16	transcript	ENST00000241436.9	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
POLL_chr10_101573882_101593257	101577031	A A	AGGATGAA others(8): Show AGGATGAATGGGAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0025 a0008c0007t0001g0025	1	394	0.0025	15	c.24 others(26): Show c.2407_*2421dupGTCTCCCATTCATCC		POLL	ENSG00000166169.17	transcript	ENST00000370162.8	protein_coding					1850		chr10	TogoVar
POLN_chr4_2066918_2247121	2094363	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01978.hp2 others(13): Show HG01109.hp2 HG01243.hp1 HG01978.hp2 HG02055.hp2 HG02145.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02647.hp1 HG02738.hp1 HG03098.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0004c0007	a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 others(2): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0002c0001t0001 a0004c0007t0001	a0001c0002t0001g0048 a0001c0002t0001g0058 a0001c0002t0001g0069 others(13): Show a0001c0002t0001g0048 a0001c0002t0001g0058 a0001c0002t0001g0069 a0001c0002t0001g0074 a0001c0003t0001g0065 a0001c0003t0001g0083 a0001c0003t0003g0011 a0001c0003t0003g0012 a0002c0001t0001g0087 a0002c0001t0001g0124 a0002c0001t0001g0134 a0002c0001t0001g0141 a0002c0001t0001g0145 a0002c0001t0001g0146 a0002c0001t0001g0162 a0004c0007t0001g0177	16	194	0.0825	15	c.206 others(34): Show c.2065+1487_2065+1488insTTTTTTTTTTTTTTT		POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	20/25						chr4	TogoVar
POLQ_chr3_121426431_121550988	121522284	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19240.hp1 HG01891.hp1 NA19240.hp1	a0024 a0045 a0024 a0045	a0024c0040 a0045c0042 a0024c0040 a0045c0042	a0024c0040t0001 a0045c0042t0001 a0024c0040t0001 a0045c0042t0001	a0024c0040t0001g0160 a0045c0042t0001g0294 a0024c0040t0001g0160 a0045c0042t0001g0294	2	318	0.0063	15	c.110 others(32): Show c.1109-150_1109-136dupAAAAAAAAAAAAAAA		POLQ	ENSG00000051341.15	transcript	ENST00000264233.6	protein_coding	7/29						chr3	TogoVar
POLQ_chr3_121426431_121550988	121549814	A A	ACAGATTC others(8): Show ACAGATTCCTATCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(237): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18987.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19079.hp1 NA19079.hp2 NA19084.hp2 NA19085.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0003 a0004 others(27): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0021 a0022 a0024 a0026 a0027 a0029 a0030 a0031 a0032 a0033 a0034 a0037 a0039 a0042 a0043 a0045	a0001c0001 a0001c0030 a0001c0036 others(34): Show a0001c0001 a0001c0030 a0001c0036 a0001c0038 a0001c0051 a0003c0002 a0004c0004 a0004c0046 a0005c0005 a0005c0029 a0006c0007 a0006c0033 a0007c0008 a0008c0009 a0011c0011 a0012c0010 a0013c0019 a0014c0018 a0015c0017 a0016c0013 a0017c0014 a0021c0041 a0022c0028 a0024c0040 a0026c0044 a0027c0025 a0029c0053 a0030c0039 a0031c0048 a0032c0047 a0033c0045 a0034c0031 a0037c0027 a0039c0049 a0042c0032 a0043c0037 a0045c0042	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(38): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0030t0001 a0001c0036t0001 a0001c0038t0001 a0001c0051t0001 a0003c0002t0001 a0004c0004t0001 a0004c0046t0001 a0005c0005t0001 a0005c0029t0001 a0006c0007t0001 a0006c0033t0001 a0007c0008t0001 a0008c0009t0001 a0008c0009t0003 a0011c0011t0001 a0012c0010t0001 a0013c0019t0002 a0014c0018t0002 a0015c0017t0001 a0016c0013t0005 a0017c0014t0004 a0021c0041t0001 a0022c0028t0001 a0024c0040t0001 a0026c0044t0001 a0027c0025t0001 a0029c0053t0001 a0030c0039t0001 a0031c0048t0001 a0032c0047t0009 a0033c0045t0001 a0034c0031t0001 a0037c0027t0001 a0039c0049t0001 a0042c0032t0001 a0043c0037t0001 a0045c0042t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 others(235): Show a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0156 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0287 a0001c0001t0001g0297 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0006g0224 a0001c0001t0007g0227 a0001c0001t0008g0214 a0001c0030t0001g0235 a0001c0036t0001g0260 a0001c0038t0001g0240 a0001c0051t0001g0267 a0003c0002t0001g0003 a0003c0002t0001g0111 a0003c0002t0001g0121 a0003c0002t0001g0122 a0003c0002t0001g0123 a0003c0002t0001g0124 a0003c0002t0001g0153 a0003c0002t0001g0154 a0003c0002t0001g0157 a0003c0002t0001g0158 a0003c0002t0001g0159 a0003c0002t0001g0161 a0003c0002t0001g0162 a0003c0002t0001g0164 a0003c0002t0001g0165 a0003c0002t0001g0166 a0003c0002t0001g0167 a0003c0002t0001g0168 a0003c0002t0001g0169 a0003c0002t0001g0170 a0003c0002t0001g0171 a0003c0002t0001g0172 a0003c0002t0001g0173 a0003c0002t0001g0174 a0003c0002t0001g0175 a0003c0002t0001g0176 a0003c0002t0001g0177 a0003c0002t0001g0178 a0003c0002t0001g0220 a0003c0002t0001g0244 a0003c0002t0001g0245 a0003c0002t0001g0268 a0003c0002t0001g0269 a0003c0002t0001g0270 a0003c0002t0001g0271 a0003c0002t0001g0275 a0003c0002t0001g0288 a0003c0002t0001g0290 a0003c0002t0001g0291 a0003c0002t0001g0298 a0003c0002t0001g0299 a0003c0002t0001g0300 a0003c0002t0001g0301 a0003c0002t0001g0302 a0003c0002t0001g0303 a0003c0002t0001g0304 a0003c0002t0001g0305 a0003c0002t0001g0306 a0004c0004t0001g0001 a0004c0004t0001g0033 a0004c0004t0001g0035 a0004c0004t0001g0036 a0004c0004t0001g0037 a0004c0004t0001g0038 a0004c0004t0001g0039 a0004c0004t0001g0040 a0004c0004t0001g0041 a0004c0004t0001g0043 a0004c0004t0001g0045 a0004c0004t0001g0047 a0004c0004t0001g0108 a0004c0004t0001g0289 a0004c0046t0001g0034 a0005c0005t0001g0120 a0005c0005t0001g0140 a0005c0005t0001g0141 a0005c0005t0001g0142 a0005c0005t0001g0143 a0005c0005t0001g0144 a0005c0005t0001g0145 a0005c0005t0001g0146 a0005c0005t0001g0147 a0005c0005t0001g0148 a0005c0005t0001g0150 a0005c0005t0001g0151 a0005c0005t0001g0292 a0005c0029t0001g0149 a0006c0007t0001g0026 a0006c0007t0001g0277 a0006c0007t0001g0279 a0006c0007t0001g0280 a0006c0007t0001g0281 a0006c0007t0001g0282 a0006c0007t0001g0283 a0006c0007t0001g0284 a0006c0007t0001g0285 a0006c0007t0001g0286 a0006c0033t0001g0278 a0007c0008t0001g0112 a0007c0008t0001g0113 a0007c0008t0001g0114 a0007c0008t0001g0115 a0007c0008t0001g0130 a0007c0008t0001g0163 a0007c0008t0001g0293 a0008c0009t0001g0008 a0008c0009t0001g0009 a0008c0009t0003g0022 a0008c0009t0003g0023 a0008c0009t0003g0024 a0008c0009t0003g0025 a0011c0011t0001g0126 a0011c0011t0001g0208 a0011c0011t0001g0209 a0011c0011t0001g0274 a0012c0010t0001g0015 a0012c0010t0001g0016 a0012c0010t0001g0017 a0012c0010t0001g0018 a0013c0019t0002g0307 a0013c0019t0002g0308 a0013c0019t0002g0310 a0014c0018t0002g0309 a0014c0018t0002g0311 a0014c0018t0002g0312 a0015c0017t0001g0257 a0015c0017t0001g0258 a0015c0017t0001g0259 a0016c0013t0005g0019 a0016c0013t0005g0020 a0016c0013t0005g0021 a0017c0014t0004g0004 a0017c0014t0004g0005 a0017c0014t0004g0006 a0021c0041t0001g0138 a0022c0028t0001g0152 a0024c0040t0001g0160 a0026c0044t0001g0207 a0027c0025t0001g0179 a0029c0053t0001g0295 a0030c0039t0001g0155 a0031c0048t0001g0046 a0032c0047t0009g0042 a0033c0045t0001g0044 a0034c0031t0001g0185 a0037c0027t0001g0139 a0039c0049t0001g0265 a0042c0032t0001g0204 a0043c0037t0001g0133 a0045c0042t0001g0294	240	318	0.7547	15	c.-39 others(26): Show c.-3938_-3937insGGGGATAGGAATCTG		POLQ	ENSG00000051341.15	transcript	ENST00000264233.6	protein_coding					3827		chr3	TogoVar
POLR1G_chr19_45401644_45415737	45410563	C C	CGTGTGTG others(8): Show CGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03710.hp2 NA19064.hp2 HG03710.hp2 NA19064.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0059 a0004c0004t0099 a0002c0002t0059 a0004c0004t0099	a0002c0002t0059g0009 a0004c0004t0099g0001 a0002c0002t0059g0009 a0004c0004t0099g0001	2	406	0.0049	15	c.10 others(26): Show c.1062_*1063insGTGTGTGTGTGTGTG		POLR1G	ENSG00000117877.11	transcript	ENST00000309424.8	protein_coding	3/3				1063		chr19	TogoVar
POLR1G_chr19_45401644_45415737	45410565	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0067 a0002c0002t0067	a0002c0002t0067g0002 a0002c0002t0067g0002	1	406	0.0025	15	c.10 others(26): Show c.1064_*1065insGTGTGTGTGTGTGTG		POLR1G	ENSG00000117877.11	transcript	ENST00000309424.8	protein_coding	3/3				1065		chr19	TogoVar
POLR2D_chr2_127838553_127863155	127844107	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 HG03195.hp1 HG02630.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0158 a0001c0001t0028g0168 a0001c0001t0028g0158 a0001c0001t0028g0168	2	358	0.0056	15	c.39 others(26): Show c.3985_*3999dupTTTTTTTTTTTTTTT		POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	4/4				3999		chr2	TogoVar
POLR2D_chr2_127838553_127863155	127850440	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03453.hp1 HG03516.hp1 others(1): Show HG02145.hp2 HG03453.hp1 HG03516.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0057 a0001c0001t0009 a0001c0001t0012 a0001c0001t0057	a0001c0001t0009g0162 a0001c0001t0009g0172 a0001c0001t0012g0161 others(1): Show a0001c0001t0009g0162 a0001c0001t0009g0172 a0001c0001t0012g0161 a0001c0001t0057g0163	4	358	0.0112	15	c.350 others(30): Show c.350+135_350+149dupTTTTTTTTTTTTTTT		POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	3/3						chr2	TogoVar
POLR2D_chr2_127838553_127863155	127856290	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03041.hp2 HG03139.hp2 others(8): Show HG02647.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 others(4): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0020 a0001c0001t0028 a0001c0001t0057 a0001c0001t0073	a0001c0001t0004g0167 a0001c0001t0009g0157 a0001c0001t0009g0160 others(8): Show a0001c0001t0004g0167 a0001c0001t0009g0157 a0001c0001t0009g0160 a0001c0001t0009g0162 a0001c0001t0012g0159 a0001c0001t0012g0161 a0001c0001t0012g0165 a0001c0001t0020g0164 a0001c0001t0028g0158 a0001c0001t0057g0163 a0001c0001t0073g0166	11	358	0.0307	15	c.73+ others(30): Show c.73+1723_73+1737dupTTTTTTTTTTTTTTT		POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	1/3						chr2	TogoVar
POLR2M_chr15_57701714_57722557	57713820	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	404	0.0025	15	c.964 others(30): Show c.964-691_964-677dupTTTTTTTTTTTTTTT		POLR2M	ENSG00000255529.9	transcript	ENST00000299638.8	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr15	TogoVar
POLR3A_chr10_77970149_78034515	77982038	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02155.hp2 HG02165.hp1 others(11): Show HG02074.hp2 HG02155.hp2 HG02165.hp1 NA18950.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA19002.hp1 NA19006.hp2 NA19070.hp2 NA19090.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0016 a0001c0001 a0009c0016	a0001c0001t0002 a0001c0001t0021 a0009c0016t0023 a0001c0001t0002 a0001c0001t0021 a0009c0016t0023	a0001c0001t0002g0037 a0001c0001t0002g0088 a0001c0001t0002g0167 others(11): Show a0001c0001t0002g0037 a0001c0001t0002g0088 a0001c0001t0002g0167 a0001c0001t0002g0189 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0205 a0001c0001t0002g0228 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0021g0327 a0009c0016t0023g0139	14	374	0.0374	15	c.375 others(32): Show c.3759+101_3759+115dupTTTTTTTTTTTTTTT		POLR3A	ENSG00000148606.15	transcript	ENST00000372371.8	protein_coding	28/30						chr10	TogoVar
POLR3A_chr10_77970149_78034515	78031543	A A	ATCTATAT others(8): Show ATCTATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0008 a0001c0018t0008	a0001c0018t0008g0311 a0001c0018t0008g0311	1	374	0.0027	15	c.-21 others(26): Show c.-2137_-2136insATATATATATATAGA		POLR3A	ENSG00000148606.15	transcript	ENST00000372371.8	protein_coding					2029		chr10	TogoVar
POLR3B_chr12_106352748_106515198	106393491	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0023 a0001c0010t0001g0023	1	304	0.0033	15	c.846 others(30): Show c.846+338_846+339insGTGTGTGTGTGTGTG		POLR3B	ENSG00000013503.10	transcript	ENST00000228347.9	protein_coding	10/27						chr12	TogoVar
POLR3B_chr12_106352748_106515198	106479796	C C	CTTCTTTT others(8): Show CTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01361.hp1 HG01884.hp2 others(26): Show HG01358.hp2 HG01361.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp1 HG03927.hp2 HG06807.hp1 NA18906.hp1 NA19043.hp2 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0011 a0001c0001 a0001c0009 a0001c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0009t0007 a0001c0011t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(26): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0075 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0290 a0001c0001t0003g0007 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0009g0053 a0001c0009t0007g0019 a0001c0011t0001g0162	29	304	0.0954	15	c.271 others(36): Show c.2713+16195_2713+16209dupTTTTCTTTTCTTTTC		POLR3B	ENSG00000013503.10	transcript	ENST00000228347.9	protein_coding	23/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
POLR3C_chr1_145819200_145849402	145821457	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG03540.hp1 HG02723.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0025	2	368	0.0054	15	c.-29 others(26): Show c.-2933_-2932insTTTTTTTTTTTTTTT		POLR3C	ENSG00000186141.10	transcript	ENST00000334163.4	protein_coding					2742		chr1	TogoVar
POLR3F_chr20_18462390_18489646	18465406	A A	AATGTGCA others(8): Show AATGTGCACTTATAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	452	0.0022	15	c.-21 others(26): Show c.-2101_-2100insATGTGCACTTATAGC		POLR3F	ENSG00000132664.13	transcript	ENST00000377603.5	protein_coding					1983		chr20	TogoVar
POLR3GL_chr1_145959690_145983848	145981608	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	372	0.0027	15	c.31 others(26): Show c.3161_*3162insAAAAAAAAAAAAAAA		POLR3GL	ENSG00000121851.13	transcript	ENST00000369314.2	protein_coding					2761		chr1	TogoVar
POLR3G_chr5_90469864_90519557	90478566	G G	GTCCTTTT others(8): Show GTCCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0097 a0001c0001t0038g0097	1	366	0.0027	15	c.-44 others(32): Show c.-44+3547_-44+3548insCCTTTTTTTTTTTTT		POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
POLR3G_chr5_90469864_90519557	90478569	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(48): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00639.hp1 HG00673.hp1 HG01074.hp1 HG01123.hp1 HG01123.hp2 HG01192.hp2 HG01496.hp2 HG01884.hp2 HG01934.hp1 HG01993.hp2 HG02004.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02273.hp2 HG02300.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02896.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03490.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04184.hp2 NA18906.hp2 NA18951.hp2 NA18952.hp1 NA18986.hp1 NA19002.hp2 NA19009.hp2 NA19054.hp2 NA19068.hp1 NA19240.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0034	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(42): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0286 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0244 a0001c0001t0004g0136 a0001c0001t0004g0139 a0001c0001t0004g0152 a0001c0001t0004g0224 a0001c0001t0005g0248 a0001c0001t0006g0022 a0001c0001t0006g0134 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0228 a0001c0001t0007g0132 a0001c0001t0007g0133 a0001c0001t0008g0028 a0001c0001t0010g0009 a0001c0001t0010g0021 a0001c0001t0010g0225 a0001c0001t0010g0241 a0001c0001t0011g0135 a0001c0001t0011g0141 a0001c0001t0011g0142 a0001c0001t0012g0007 a0001c0001t0012g0138 a0001c0001t0019g0131 a0001c0001t0019g0137 a0001c0001t0021g0044 a0001c0001t0021g0211 a0001c0001t0022g0296 a0001c0001t0024g0315 a0001c0001t0027g0041 a0001c0001t0028g0039 a0001c0001t0029g0040 a0001c0001t0034g0140	51	366	0.1393	15	c.-44 others(32): Show c.-44+3552_-44+3566dupTTTTTTTTTTTTTTT		POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
POLR3H_chr22_41520799_41549470	41544352	G G	GCCACGCC others(8): Show GCCACGCCACGCCACT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00673.hp1 NA19000.hp2 NA19088.hp1 HG00673.hp1 NA19000.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0034 a0001c0001t0022 a0001c0001t0034	a0001c0001t0022g0054 a0001c0001t0022g0055 a0001c0001t0034g0060 a0001c0001t0022g0054 a0001c0001t0022g0055 a0001c0001t0034g0060	3	384	0.0078	15	c.-26 others(24): Show c.-266_-252dupAGTGGCGTGGCGTGG		POLR3H	ENSG00000100413.17	transcript	ENST00000355209.9	protein_coding	1/6				252		chr22	TogoVar
POLR3K_chr16_41407_58608	52765	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02615.hp2 HG01169.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0162 a0001c0001t0006g0163 a0001c0001t0006g0162 a0001c0001t0006g0163	2	432	0.0046	15	c.111 others(30): Show c.111+696_111+710dupTTTTTTTTTTTTTTT		POLR3K	ENSG00000161980.6	transcript	ENST00000293860.6	protein_coding	1/2						chr16	TogoVar
POLRMT_chr19_612221_638537	626696	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0025 a0025	a0025c0051 a0025c0051	a0025c0051t0003 a0025c0051t0003	a0025c0051t0003g0282 a0025c0051t0003g0282	1	422	0.0024	15	c.823 others(32): Show c.823-1457_823-1443dupTTTTTTTTTTTTTTT		POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	3/20						chr19	TogoVar
POM121C_chr7_75411786_75491299	75464856	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01175.hp2 HG02074.hp1 others(1): Show HG00642.hp2 HG01175.hp2 HG02074.hp1 HG03491.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0010 a0001c0005t0005 a0001c0005t0010	a0001c0005t0005g0052 a0001c0005t0005g0053 a0001c0005t0005g0091 others(1): Show a0001c0005t0005g0052 a0001c0005t0005g0053 a0001c0005t0005g0091 a0001c0005t0010g0064	4	308	0.0130	15	c.-15 others(34): Show c.-152+9833_-152+9847dupTTTTTTTTTTTTTTT		POM121C	ENSG00000272391.6	transcript	ENST00000615331.5	protein_coding	3/14						chr7	TogoVar
POM121_chr7_72920095_72953299	72925632	G G	GCGCCGCG others(8): Show GCGCCGCGCTCCCCAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01081.hp2 HG01106.hp1 HG01243.hp1 others(10): Show HG01081.hp2 HG01106.hp1 HG01243.hp1 HG01433.hp1 HG02145.hp2 HG02559.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp2 HG03041.hp1 NA18522.hp2 NA18973.hp2 NA19010.hp1	a0013 a0017 a0041 a0013 a0017 a0041	a0013c0026 a0013c0027 a0013c0048 others(6): Show a0013c0026 a0013c0027 a0013c0048 a0013c0049 a0013c0052 a0017c0028 a0017c0029 a0017c0050 a0041c0051	a0013c0026t0002 a0013c0026t0038 a0013c0027t0001 others(7): Show a0013c0026t0002 a0013c0026t0038 a0013c0027t0001 a0013c0048t0054 a0013c0049t0001 a0013c0052t0001 a0017c0028t0002 a0017c0029t0002 a0017c0050t0002 a0041c0051t0011	a0013c0026t0002g0100 a0013c0026t0038g0091 a0013c0027t0001g0002 others(9): Show a0013c0026t0002g0100 a0013c0026t0038g0091 a0013c0027t0001g0002 a0013c0027t0001g0054 a0013c0048t0054g0075 a0013c0049t0001g0002 a0013c0052t0001g0082 a0017c0028t0002g0012 a0017c0028t0002g0118 a0017c0029t0002g0012 a0017c0050t0002g0009 a0041c0051t0011g0001	13	424	0.0307	15	c.540 others(22): Show c.540_554dupACCGCCGCGCTCCCC	p.Pro others(28): Show p.Pro185_Pro186insProProArgSerPro	POM121	ENSG00000196313.13	transcript	ENST00000434423.5	protein_coding	1/13	582/5842	555/3750	185/1249		INFO_REALIGN_3_PRIME	chr7	TogoVar
POM121_chr7_72920095_72953299	72952253	A A	ACCCCCCC others(8): Show ACCCCCCCCGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0007 a0007	a0007c0024 a0007c0024	a0007c0024t0007 a0007c0024t0007	a0007c0024t0007g0152 a0007c0024t0007g0152	1	424	0.0024	15	c.60 others(26): Show c.6019_*6020insCCCCCCCCGCCCCCC		POM121	ENSG00000196313.13	transcript	ENST00000434423.5	protein_coding					3955		chr7	TogoVar
POMGNT1_chr1_46183683_46203434	46202920	G G	GGGGTGGT others(8): Show GGGGTGGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 NA18989.hp1 HG02809.hp2 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	406	0.0049	15	c.-46 others(26): Show c.-4636_-4635insACACACACACCACCC		POMGNT1	ENSG00000085998.15	transcript	ENST00000371984.8	protein_coding					4487		chr1	TogoVar
POMGNT2_chr3_43074234_43111079	43098862	T T	TATGCAAC others(8): Show TATGCAACCCTCTCAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp1 others(75): Show HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00735.hp2 HG01123.hp2 HG01192.hp1 HG01243.hp1 HG01928.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02145.hp1 HG02257.hp1 HG02451.hp2 HG02523.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03688.hp1 HG03704.hp1 HG03927.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18946.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18964.hp1 NA18971.hp1 NA18972.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18987.hp2 NA18989.hp1 NA19000.hp2 NA19001.hp1 NA19010.hp2 NA19043.hp1 NA19058.hp1 NA19060.hp2 NA19068.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0009 a0010 a0001 a0009 a0010	a0001c0001 a0001c0003 a0001c0010 others(2): Show a0001c0001 a0001c0003 a0001c0010 a0009c0008 a0010c0015	a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 a0009c0008t0001 a0010c0015t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0014 others(21): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0003t0001g0009 a0001c0003t0001g0013 a0001c0003t0001g0065 a0001c0010t0001g0059 a0009c0008t0001g0069 a0010c0015t0001g0062	78	378	0.2064	15	c.-10 others(34): Show c.-106+6959_-106+6973dupGTGAGAGGGTTGCAT		POMGNT2	ENSG00000144647.7	transcript	ENST00000344697.3	protein_coding	1/1						chr3	TogoVar
POMZP3_chr7_76604986_76632279	76615973	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18747.hp2 NA18956.hp2 HG02135.hp2 NA18747.hp2 NA18956.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0161 a0002c0002t0003g0163 a0002c0002t0003g0167 a0002c0002t0003g0161 a0002c0002t0003g0163 a0002c0002t0003g0167	3	423	0.0071	15	c.345 others(32): Show c.345+2195_345+2209dupTTTTTTTTTTTTTTT		POMZP3	ENSG00000146707.15	transcript	ENST00000310842.9	protein_coding	4/6						chr7	TogoVar
POMZP3_chr7_76604986_76632279	76620861	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG04199.hp1 HG01433.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0069 a0001c0001t0005g0083 a0001c0001t0005g0069 a0001c0001t0005g0083	2	423	0.0047	15	c.228 others(32): Show c.228-2576_228-2562dupAAAAAAAAAAAAAAA		POMZP3	ENSG00000146707.15	transcript	ENST00000310842.9	protein_coding	3/6						chr7	TogoVar
PON1_chr7_95292676_95329532	95302096	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01261.hp1 others(8): Show HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01515.hp1 HG01981.hp2 HG02074.hp1 NA18612.hp1 NA18612.hp2 NA18946.hp2 NA18970.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0003 a0001c0001t0002g0189 a0001c0001t0002g0201 others(4): Show a0001c0001t0002g0003 a0001c0001t0002g0189 a0001c0001t0002g0201 a0001c0001t0002g0228 a0001c0001t0002g0235 a0001c0001t0002g0347 a0001c0001t0004g0177	11	434	0.0254	15	c.909 others(29): Show c.909+94_909+108dupTTTTTTTTTTTTTTT		PON1	ENSG00000005421.9	transcript	ENST00000222381.8	protein_coding	8/8						chr7	TogoVar
POPDC2_chr3_119637056_119665589	119659085	G G	GCCCCGTG others(8): Show GCCCCGTGATGAGAGC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0072 a0005c0010t0002g0072	1	410	0.0024	15	c.491 others(30): Show c.491+847_491+848insGCTCTCATCACGGGG		POPDC2	ENSG00000121577.14	transcript	ENST00000493094.6	protein_coding	1/3						chr3	TogoVar
POSTN_chr13_37557585_37603768	37567235	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01106.hp2 HG01169.hp2 others(22): Show HG00099.hp1 HG01106.hp2 HG01169.hp2 HG01358.hp1 HG01361.hp1 HG01515.hp2 HG02055.hp1 HG02273.hp1 HG02602.hp2 HG02630.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG03490.hp2 NA18964.hp1 NA18967.hp2 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA19000.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0008 a0001c0001t0001g0051 a0001c0001t0001g0052 others(18): Show a0001c0001t0001g0008 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0096 a0001c0001t0001g0126 a0001c0001t0001g0179 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0209 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0278 a0001c0001t0003g0283 a0001c0001t0003g0286	25	416	0.0601	15	c.243 others(34): Show c.2431+2050_2431+2064dupTTTTTTTTTTTTTTT		POSTN	ENSG00000133110.15	transcript	ENST00000379747.9	protein_coding	21/22						chr13	TogoVar
POT1_chr7_124817386_124934825	124877840	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02056.hp2 HG02074.hp2 others(1): Show HG00621.hp1 HG02056.hp2 HG02074.hp2 NA19011.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0001c0001 a0005c0012	a0001c0001t0002 a0005c0012t0002 a0001c0001t0002 a0005c0012t0002	a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0051 others(1): Show a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0051 a0005c0012t0002g0038	4	346	0.0116	15	c.125 others(32): Show c.125-6814_125-6800dupTTTTTTTTTTTTTTT		POT1	ENSG00000128513.16	transcript	ENST00000357628.8	protein_coding	6/18						chr7	TogoVar
POTEB_chr15_21841329_21882735	21878893	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03486.hp2 HG03540.hp2 HG03098.hp1 HG03486.hp2 HG03540.hp2	a0002 a0011 a0002 a0011	a0002c0002 a0011c0019 a0002c0002 a0011c0019	a0002c0002t0007 a0002c0002t0008 a0011c0019t0003 a0002c0002t0007 a0002c0002t0008 a0011c0019t0003	a0002c0002t0007g0017 a0002c0002t0008g0018 a0011c0019t0003g0031 a0002c0002t0007g0017 a0002c0002t0008g0018 a0011c0019t0003g0031	3	64	0.0469	15	c.-16 others(26): Show c.-1648_-1647insTTTTTTTTTTTTTTT		POTEB	ENSG00000233917.9	transcript	ENST00000439682.2	protein_coding					1159		chr15	TogoVar
POTEC_chr18_14502339_14548600	14537210	C C	CACACACA others(8): Show CACACACACACAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0002 a0002c0032t0002	a0002c0032t0002g0179 a0002c0032t0002g0179	1	388	0.0026	15	c.810 others(30): Show c.810+590_810+591insTTTTTGTGTGTGTGT		POTEC	ENSG00000183206.18	transcript	ENST00000358970.10	protein_coding	3/10						chr18	TogoVar
POTEC_chr18_14502339_14548600	14537210	C C	CACACACA others(8): Show CACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0047 a0002c0002t0047	a0002c0002t0047g0138 a0002c0002t0047g0138	1	388	0.0026	15	c.810 others(30): Show c.810+590_810+591insTGTGTGTGTGTGTGT		POTEC	ENSG00000183206.18	transcript	ENST00000358970.10	protein_coding	3/10						chr18	TogoVar
POTEC_chr18_14502339_14548600	14543632	T T	TGCGGGGC others(8): Show TGCGGGGCGCGCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0089 a0001c0001t0036g0089	1	388	0.0026	15	c.-48 others(24): Show c.-487_-486insGCGCGCGCGCCCCGC		POTEC	ENSG00000183206.18	transcript	ENST00000358970.10	protein_coding					33		chr18	TogoVar
POTED_chr21_13604777_13650823	13646287	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0004 a0001c0001t0007g0004	1	416	0.0024	15	c.47 others(26): Show c.4721_*4722insAAAAAAAAAAAACAC		POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding					465		chr21	TogoVar
POTED_chr21_13604777_13650823	13646287	A A	AAAAAAAA others(8): Show AAAAAAAAAAACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG02630.hp1 HG02895.hp1 HG00673.hp2 HG02630.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0017 a0001c0001t0006 a0001c0003t0017	a0001c0001t0006g0132 a0001c0001t0006g0137 a0001c0003t0017g0056 a0001c0001t0006g0132 a0001c0001t0006g0137 a0001c0003t0017g0056	3	416	0.0072	15	c.47 others(26): Show c.4721_*4722insAAAAAAAAAACACAC		POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding					465		chr21	TogoVar
POTED_chr21_13604777_13650823	13646287	A A	AAAAAAAA others(8): Show AAAAAAAAACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0011 a0006c0008t0011	a0006c0008t0011g0010 a0006c0008t0011g0010	1	416	0.0024	15	c.47 others(26): Show c.4721_*4722insAAAAAAAACACACAC		POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding					465		chr21	TogoVar

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