Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PML_chr15_73989716_74052827	74016792	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(115): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18947.hp1 NA18950.hp2 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18970.hp2 NA18982.hp2 NA18985.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19077.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0008 a0010 a0011	a0001c0001 a0001c0004 a0002c0002 others(7): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0003c0010 a0003c0012 a0004c0017 a0008c0015 a0010c0013 a0011c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0019 a0001c0004t0003 a0002c0002t0001 a0003c0003t0002 a0003c0010t0001 a0003c0012t0001 a0004c0017t0001 a0008c0015t0002 a0010c0013t0002 a0011c0016t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(90): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0265 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0157 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0197 a0001c0001t0002g0203 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0245 a0001c0001t0002g0254 a0001c0001t0002g0263 a0001c0001t0003g0030 a0001c0001t0003g0262 a0001c0001t0006g0010 a0001c0001t0006g0172 a0001c0001t0006g0181 a0001c0001t0006g0261 a0001c0001t0009g0010 a0001c0001t0010g0122 a0001c0001t0012g0204 a0001c0001t0019g0163 a0001c0004t0003g0187 a0002c0002t0001g0240 a0002c0002t0001g0244 a0003c0003t0002g0004 a0003c0003t0002g0154 a0003c0010t0001g0231 a0003c0012t0001g0239 a0004c0017t0001g0221 a0008c0015t0002g0202 a0010c0013t0002g0151 a0011c0016t0001g0260	118	232	0.5086	9	c.603 others(26): Show c.603-6022_603-6014dupTTTTTTTTT	PML	ENSG00000140464.20	transcript	ENST00000268058.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PMM2_chr16_8792839_8854325	8851977	C C	CTTTTTTT others(2): Show CTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01109.hp2 HG01123.hp2 others(5): Show HG00597.hp1 HG01109.hp2 HG01123.hp2 HG01361.hp1 HG02040.hp1 HG02559.hp2 HG02572.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0029 a0001c0001t0001 a0001c0001t0019 a0001c0001t0029	a0001c0001t0001g0003 a0001c0001t0001g0044 a0001c0001t0001g0125 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0044 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0019g0005 a0001c0001t0029g0313	8	70	0.1143	9	c.41 others(20): Show c.4152_*4153insTTTTTTTTT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding		2653		chr16	TogoVar
PMPCA_chr9_136405658_136428761	136421404	G G	GTTTTTTT others(2): Show GTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00558.hp1 others(42): Show HG00140.hp1 HG00280.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG01070.hp1 HG01099.hp1 HG01168.hp1 HG01515.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02135.hp1 HG02257.hp2 HG02300.hp2 HG02486.hp1 HG02602.hp1 HG02647.hp2 HG02698.hp2 HG04184.hp1 HG04199.hp2 NA18941.hp1 NA18943.hp2 NA18952.hp2 NA18957.hp1 NA18961.hp2 NA18963.hp2 NA18970.hp2 NA18973.hp2 NA18990.hp2 NA19056.hp1 NA19057.hp1 NA19063.hp2 NA19068.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0003 a0001c0003t0002g0026 a0001c0003t0002g0036 others(8): Show a0001c0003t0002g0003 a0001c0003t0002g0026 a0001c0003t0002g0036 a0001c0003t0002g0038 a0001c0003t0002g0044 a0001c0003t0002g0047 a0001c0003t0002g0048 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0051 a0001c0003t0002g0128	45	191	0.2356	9	c.126 others(26): Show c.1264-421_1264-420insGTTTTTTTT	PMPCA	ENSG00000165688.14	transcript	ENST00000371717.8	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
PMS1_chr2_189779450_189882629	189809447	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02109.hp1 HG02486.hp2 others(3): Show HG01261.hp1 HG02109.hp1 HG02486.hp2 HG02630.hp1 NA19030.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 others(3): Show a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0005g0117	6	88	0.0682	9	c.418 others(26): Show c.418+3712_418+3720dupTTTTTTTTT	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNLIPRP1_chr10_116585959_116614175	116607020	T T	TTAATAAT others(2): Show TTAATAATAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG00738.hp1 others(3): Show HG00621.hp1 HG00735.hp1 HG00738.hp1 HG02647.hp1 HG02896.hp1 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0001 a0001c0002t0001 a0001c0006t0001	a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0006t0001g0064 others(3): Show a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0006t0001g0064 a0001c0006t0001g0223 a0001c0006t0001g0232 a0001c0006t0001g0234	6	318	0.0189	9	c.134 others(28): Show c.1340+1487_1340+1495dupAATAATAAT	PNLIPRP1	ENSG00000187021.15	transcript	ENST00000358834.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PNMA6E_chrX_153390639_153406350	153390831	A A	ACACACCA others(2): Show ACACACCACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03453.hp1 others(1): Show HG02895.hp1 HG02897.hp2 HG03453.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0073 others(1): Show a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0082	4	344	0.0116	9	c.60 others(20): Show c.6074_*6075insCGTGGTGTG	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding		4807		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153390971	A A	ACACACCA others(2): Show ACACACCATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00544.hp1 others(105): Show HG00140.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02559.hp1 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02723.hp2 HG03041.hp2 HG03195.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18963.hp2 NA18966.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18980.hp2 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18997.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19006.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0009 a0011 a0014 a0015 a0016 a0019	a0001c0001 a0001c0011 a0001c0013 others(11): Show a0001c0001 a0001c0011 a0001c0013 a0002c0002 a0002c0021 a0003c0003 a0004c0004 a0005c0005 a0009c0014 a0011c0027 a0014c0018 a0015c0020 a0016c0017 a0019c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(26): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0011t0001 a0001c0013t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0008 a0002c0002t0009 a0002c0002t0027 a0002c0002t0030 a0002c0021t0002 a0003c0003t0003 a0004c0004t0006 a0004c0004t0028 a0005c0005t0001 a0009c0014t0013 a0011c0027t0002 a0014c0018t0001 a0015c0020t0032 a0016c0017t0002 a0019c0016t0035	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(46): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0103 a0001c0001t0003g0005 a0001c0001t0003g0021 a0001c0001t0003g0055 a0001c0001t0003g0101 a0001c0001t0007g0067 a0001c0001t0010g0022 a0001c0001t0015g0114 a0001c0001t0017g0054 a0001c0001t0021g0093 a0001c0011t0001g0084 a0001c0013t0001g0071 a0002c0002t0001g0030 a0002c0002t0001g0060 a0002c0002t0002g0001 a0002c0002t0002g0008 a0002c0002t0002g0047 a0002c0002t0002g0075 a0002c0002t0002g0100 a0002c0002t0002g0119 a0002c0002t0002g0121 a0002c0002t0003g0044 a0002c0002t0003g0123 a0002c0002t0004g0025 a0002c0002t0005g0011 a0002c0002t0005g0102 a0002c0002t0008g0020 a0002c0002t0009g0019 a0002c0002t0027g0110 a0002c0002t0030g0111 a0002c0021t0002g0112 a0003c0003t0003g0009 a0004c0004t0006g0015 a0004c0004t0028g0091 a0005c0005t0001g0068 a0009c0014t0013g0032 a0011c0027t0002g0107 a0014c0018t0001g0064 a0015c0020t0032g0120 a0016c0017t0002g0122 a0019c0016t0035g0108	108	342	0.3158	9	c.59 others(20): Show c.5934_*5935insCATGGTGTG	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding		4667		chrX	TogoVar
PNMA8C_chr19_46419697_46433936	46423751	A A	ATTTTTTT others(2): Show ATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00735.hp2 others(20): Show HG00438.hp2 HG00621.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01361.hp2 HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02896.hp1 HG02922.hp1 HG03486.hp1 HG03579.hp2 HG04199.hp2 NA18961.hp2 NA18974.hp2 NA18985.hp1 NA18998.hp2 NA19001.hp1 NA19068.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 a0001c0001t0027 a0001c0001t0037 a0001c0001t0042 a0001c0001t0050 a0003c0005t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(6): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0018g0000 a0001c0001t0027g0000 a0001c0001t0037g0000 a0001c0001t0042g0000 a0001c0001t0050g0000 a0003c0005t0001g0000	23	153	0.1503	9	c.39 others(20): Show c.3993_*3994insAAAAAAAAA	PNMA8C	ENSG00000277531.3	transcript	ENST00000617053.3	protein_coding		945		chr19	TogoVar
PNMA8C_chr19_46419697_46433936	46433223	T T	TAAAAAAA others(2): Show TAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG02572.hp2 others(4): Show HG01884.hp1 HG02486.hp1 HG02572.hp2 HG02886.hp2 HG03195.hp1 HG03516.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0022 a0001c0001t0008 a0001c0001t0022	a0001c0001t0008g0000 a0001c0001t0022g0000 a0001c0001t0008g0000 a0001c0001t0022g0000	7	230	0.0304	9	c.-48 others(20): Show c.-4865_-4864insTTTTTTTTT	PNMA8C	ENSG00000277531.3	transcript	ENST00000617053.3	protein_coding		4288		chr19	TogoVar
PNN_chr14_39170254_39188220	39184265	C C	CTTTTTTT others(2): Show CTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00673.hp1 others(30): Show HG00408.hp2 HG00558.hp1 HG00673.hp1 HG01884.hp2 HG02004.hp1 HG02004.hp2 HG02071.hp2 HG02074.hp2 HG02300.hp1 HG03942.hp2 NA18941.hp2 NA18943.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18972.hp1 NA18981.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA18999.hp2 NA19004.hp2 NA19010.hp2 NA19011.hp2 NA19056.hp1 NA19058.hp2 NA19067.hp2 NA19074.hp1 NA19078.hp1 NA19078.hp2 NA19083.hp2	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0001 a0002c0006t0001 a0002c0003t0001 a0002c0006t0001	a0002c0003t0001g0003 a0002c0003t0001g0013 a0002c0003t0001g0018 others(4): Show a0002c0003t0001g0003 a0002c0003t0001g0013 a0002c0003t0001g0018 a0002c0003t0001g0033 a0002c0003t0001g0077 a0002c0003t0001g0081 a0002c0006t0001g0003	33	165	0.2000	9	c.24 others(20): Show c.2402_*2403insTTTTTTTTT	PNN	ENSG00000100941.9	transcript	ENST00000216832.9	protein_coding		1046		chr14	TogoVar
PNN_chr14_39170254_39188220	39187618	C C	CAAAAAAA others(2): Show CAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG02071.hp2 others(13): Show HG00423.hp1 HG00673.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02300.hp1 HG02818.hp2 NA18963.hp2 NA18966.hp2 NA18989.hp2 NA18990.hp1 NA19010.hp2 NA19011.hp2 NA19078.hp1 NA19080.hp1 NA20752.hp2	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0001 a0002c0006t0001 a0002c0003t0001 a0002c0006t0001	a0002c0003t0001g0003 a0002c0003t0001g0013 a0002c0003t0001g0033 others(2): Show a0002c0003t0001g0003 a0002c0003t0001g0013 a0002c0003t0001g0033 a0002c0003t0001g0077 a0002c0006t0001g0024	16	114	0.1404	9	c.57 others(20): Show c.5755_*5756insAAAAAAAAA	PNN	ENSG00000100941.9	transcript	ENST00000216832.9	protein_coding		4399		chr14	TogoVar
PNPLA1_chr6_36265060_36318955	36273728	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp1 HG00735.hp1 others(31): Show HG00558.hp1 HG00639.hp1 HG00735.hp1 HG01255.hp1 HG01952.hp1 HG01981.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp2 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02622.hp1 HG02723.hp2 HG02886.hp2 HG02922.hp2 HG03492.hp2 HG03516.hp2 HG04199.hp2 HG04228.hp1 NA18906.hp1 NA18944.hp2 NA18959.hp2 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18992.hp2 NA19005.hp1 NA19005.hp2 NA19065.hp1 NA19068.hp2 NA19081.hp2 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009 a0019	a0001c0001 a0001c0003 a0002c0002 others(9): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0003c0007 a0004c0006 a0004c0008 a0006c0009 a0006c0017 a0007c0010 a0009c0014 a0019c0032	a0001c0001t0001 a0001c0001t0002 a0001c0003t0014 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0014 a0002c0002t0001 a0003c0004t0001 a0003c0007t0001 a0004c0006t0004 a0004c0008t0019 a0006c0009t0004 a0006c0017t0004 a0007c0010t0001 a0009c0014t0001 a0019c0032t0003	a0001c0001t0001g0102 a0001c0001t0002g0087 a0001c0001t0002g0092 others(31): Show a0001c0001t0001g0102 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0141 a0001c0001t0002g0147 a0001c0003t0014g0096 a0002c0002t0001g0091 a0002c0002t0001g0095 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0144 a0002c0002t0001g0146 a0003c0004t0001g0071 a0003c0004t0001g0072 a0003c0004t0001g0085 a0003c0004t0001g0142 a0003c0007t0001g0055 a0003c0007t0001g0101 a0003c0007t0001g0104 a0004c0006t0004g0056 a0004c0006t0004g0057 a0004c0006t0004g0086 a0004c0008t0019g0140 a0006c0009t0004g0073 a0006c0009t0004g0359 a0006c0017t0004g0103 a0007c0010t0001g0089 a0007c0010t0001g0090 a0007c0010t0001g0097 a0007c0010t0001g0143 a0009c0014t0001g0088 a0019c0032t0003g0145	34	70	0.4857	9	c.205 others(26): Show c.205+3080_205+3088dupAAAAAAAAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36288443	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18954.hp1 NA18969.hp1 others(6): Show NA18950.hp2 NA18954.hp1 NA18969.hp1 NA18980.hp1 NA18982.hp1 NA19003.hp2 NA19004.hp2 NA19057.hp2 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0216 a0002c0002t0001g0217 others(5): Show a0002c0002t0001g0001 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0333	9	167	0.0539	9	c.206 others(26): Show c.206-2865_206-2857dupTTTTTTTTT	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA6_chr19_7530717_7566764	7545980	A A	ATTCTGAG others(2): Show ATTCTGAGAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18959.hp1 NA19002.hp1 others(3): Show HG00558.hp2 NA18959.hp1 NA19002.hp1 NA19003.hp1 NA19011.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0172 others(3): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0172 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0313	6	414	0.0145	9	c.160 others(28): Show c.1608+2897_1608+2905dupTTCTGAGAG	PNPLA6	ENSG00000032444.17	transcript	ENST00000600737.6	protein_coding	13/31		INFO_REALIGN_3_PRIME	chr19	TogoVar
PNPLA7_chr9_137454952_137555402	137473798	T T	TACCGACC others(2): Show TACCGACCCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02155.hp1 HG03017.hp1 others(5): Show HG01891.hp1 HG02155.hp1 HG03017.hp1 HG03139.hp1 HG03942.hp1 HG04115.hp2 NA18940.hp2 NA18944.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0024 a0002c0015 a0003c0008 others(3): Show a0001c0024 a0002c0015 a0003c0008 a0003c0021 a0003c0025 a0003c0057	a0001c0024t0001 a0002c0015t0001 a0003c0008t0001 others(3): Show a0001c0024t0001 a0002c0015t0001 a0003c0008t0001 a0003c0021t0001 a0003c0025t0001 a0003c0057t0001	a0001c0024t0001g0011 a0002c0015t0001g0173 a0003c0008t0001g0087 others(5): Show a0001c0024t0001g0011 a0002c0015t0001g0173 a0003c0008t0001g0087 a0003c0008t0001g0091 a0003c0021t0001g0088 a0003c0021t0001g0185 a0003c0025t0001g0012 a0003c0057t0001g0176	8	184	0.0435	9	c.288 others(28): Show c.2882+4235_2882+4236insGGGGTCGGT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	25/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137502737	C C	CCCGGGGG others(2): Show CCCGGGGGAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02273.hp1 HG02273.hp2 others(3): Show HG00099.hp1 HG02273.hp1 HG02273.hp2 HG02970.hp2 HG03540.hp1 NA18952.hp1	a0001 a0020 a0026 others(1): Show a0001 a0020 a0026 a0028	a0001c0001 a0001c0002 a0020c0034 others(2): Show a0001c0001 a0001c0002 a0020c0034 a0026c0029 a0028c0052	a0001c0001t0001 a0001c0002t0001 a0020c0034t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0020c0034t0001 a0026c0029t0001 a0028c0052t0001	a0001c0001t0001g0079 a0001c0002t0001g0110 a0001c0002t0001g0144 others(3): Show a0001c0001t0001g0079 a0001c0002t0001g0110 a0001c0002t0001g0144 a0020c0034t0001g0062 a0026c0029t0001g0156 a0028c0052t0001g0154	6	138	0.0435	9	c.147 others(28): Show c.1474-1011_1474-1010insATCCCCCGG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137502737	C C	CGAGGGGG others(2): Show CGAGGGGGAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03225.hp2 HG02965.hp2 HG03225.hp2	a0002 a0025 a0002 a0025	a0002c0004 a0025c0044 a0002c0004 a0025c0044	a0002c0004t0001 a0025c0044t0001 a0002c0004t0001 a0025c0044t0001	a0002c0004t0001g0180 a0025c0044t0001g0102 a0002c0004t0001g0180 a0025c0044t0001g0102	2	134	0.0149	9	c.147 others(28): Show c.1474-1011_1474-1010insATCCCCCTC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137518436	C C	CTCCACTC others(2): Show CTCCACTCTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01261.hp1 HG02273.hp2 others(4): Show HG00544.hp1 HG01261.hp1 HG02273.hp2 HG02683.hp1 HG03017.hp2 HG03041.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0001c0037	a0001c0001t0001 a0001c0002t0001 a0001c0011t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0011t0001 a0001c0037t0001	a0001c0001t0001g0074 a0001c0002t0001g0003 a0001c0002t0001g0009 others(4): Show a0001c0001t0001g0074 a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0144 a0001c0011t0001g0008 a0001c0011t0001g0035 a0001c0037t0001g0007	7	184	0.0380	9	c.108 others(28): Show c.1084+1480_1084+1481insCAGAGTGGA	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PNPT1_chr2_55629061_55698844	55695278	T T	TAAAAAAA others(2): Show TAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG01175.hp1 others(24): Show HG00140.hp1 HG01099.hp1 HG01175.hp1 HG01192.hp1 HG01346.hp2 HG01516.hp2 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp1 HG02083.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG03239.hp2 HG03688.hp1 NA18943.hp2 NA18969.hp1 NA18982.hp1 NA18983.hp2 NA18989.hp1 NA18994.hp1 NA19006.hp2 NA19080.hp1 NA19084.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0001t0037 a0001c0004t0007 a0002c0005t0001	a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(24): Show a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0196 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0358 a0001c0001t0011g0194 a0001c0001t0012g0171 a0001c0001t0012g0177 a0001c0001t0012g0184 a0001c0001t0037g0118 a0001c0004t0007g0008 a0001c0004t0007g0063 a0002c0005t0001g0151	27	175	0.1543	9	c.-14 others(20): Show c.-1456_-1455insTTTTTTTTT	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding		1435		chr2	TogoVar
PODNL1_chr19_13926187_13943417	13939868	C C	CAATAATA others(2): Show CAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01256.hp2 HG02055.hp1 others(4): Show HG00639.hp1 HG01256.hp2 HG02055.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0023 a0001c0001t0002g0054 a0002c0002t0001g0120 others(1): Show a0001c0001t0001g0023 a0001c0001t0002g0054 a0002c0002t0001g0120 a0002c0002t0001g0121	7	408	0.0172	9	c.-16 others(20): Show c.-1696_-1688dupATTATTATT	PODNL1	ENSG00000132000.14	transcript	ENST00000588872.3	protein_coding		1452		chr19	TogoVar
PODXL_chr7_131495271_131561628	131526739	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp2 HG01891.hp1 others(24): Show HG00639.hp2 HG01884.hp2 HG01891.hp1 HG02258.hp2 HG02451.hp1 HG02615.hp1 HG02630.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03540.hp2 HG03579.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp2 NA20129.hp2	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0008 a0010	a0001c0003 a0001c0012 a0001c0046 others(9): Show a0001c0003 a0001c0012 a0001c0046 a0003c0005 a0003c0006 a0003c0027 a0003c0029 a0006c0007 a0006c0011 a0008c0014 a0008c0018 a0010c0032	a0001c0003t0001 a0001c0003t0011 a0001c0003t0023 others(17): Show a0001c0003t0001 a0001c0003t0011 a0001c0003t0023 a0001c0012t0042 a0001c0012t0044 a0001c0046t0002 a0003c0005t0003 a0003c0005t0013 a0003c0005t0041 a0003c0006t0001 a0003c0027t0007 a0003c0029t0001 a0006c0007t0001 a0006c0011t0003 a0006c0011t0013 a0008c0014t0001 a0008c0014t0006 a0008c0018t0001 a0008c0018t0019 a0010c0032t0038	a0001c0003t0001g0184 a0001c0003t0001g0284 a0001c0003t0001g0285 others(24): Show a0001c0003t0001g0184 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0287 a0001c0003t0011g0303 a0001c0003t0023g0024 a0001c0012t0042g0286 a0001c0012t0044g0429 a0001c0046t0002g0312 a0003c0005t0003g0344 a0003c0005t0013g0332 a0003c0005t0041g0365 a0003c0006t0001g0382 a0003c0027t0007g0055 a0003c0029t0001g0048 a0003c0029t0001g0053 a0006c0007t0001g0081 a0006c0007t0001g0168 a0006c0011t0003g0169 a0006c0011t0013g0175 a0008c0014t0001g0038 a0008c0014t0006g0036 a0008c0014t0006g0037 a0008c0018t0001g0032 a0008c0018t0019g0026 a0008c0018t0019g0033 a0010c0032t0038g0318	27	28	0.9643	9	c.101 others(28): Show c.101-15315_101-15307dupAAAAAAAAA	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
POF1B_chrX_85272396_85384665	85360568	C C	CACACACA others(2): Show CACACACACT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01167.hp1 HG01169.hp2 others(15): Show HG00738.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp1 HG02055.hp1 HG02109.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp2 HG02630.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG03225.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0004 a0003c0005 others(1): Show a0001c0001 a0001c0004 a0003c0005 a0004c0007	a0001c0001t0003 a0001c0001t0013 a0001c0004t0003 others(2): Show a0001c0001t0003 a0001c0001t0013 a0001c0004t0003 a0003c0005t0001 a0004c0007t0003	a0001c0001t0003g0184 a0001c0001t0013g0167 a0001c0004t0003g0015 others(14): Show a0001c0001t0003g0184 a0001c0001t0013g0167 a0001c0004t0003g0015 a0001c0004t0003g0036 a0001c0004t0003g0198 a0001c0004t0003g0199 a0001c0004t0003g0200 a0001c0004t0003g0201 a0001c0004t0003g0202 a0001c0004t0003g0203 a0003c0005t0001g0164 a0003c0005t0001g0165 a0003c0005t0001g0168 a0003c0005t0001g0179 a0003c0005t0001g0180 a0003c0005t0001g0181 a0004c0007t0003g0038	18	165	0.1091	9	c.358 others(24): Show c.358-939_358-938insAGTGTGTGT	POF1B	ENSG00000124429.18	transcript	ENST00000262753.9	protein_coding	3/16			chrX	TogoVar
POFUT1_chr20_32202880_32243658	32242834	A A	ATATATAT others(2): Show ATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02895.hp1 HG02895.hp2 others(1): Show HG02818.hp1 HG02895.hp1 HG02895.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0008 a0001c0003t0006 a0001c0009t0006 a0001c0001t0008 a0001c0003t0006 a0001c0009t0006	a0001c0001t0008g0011 a0001c0003t0006g0025 a0001c0009t0006g0045 a0001c0001t0008g0011 a0001c0003t0006g0025 a0001c0009t0006g0045	4	273	0.0147	9	c.81 others(20): Show c.8173_*8174insTATATATAT	POFUT1	ENSG00000101346.15	transcript	ENST00000375749.8	protein_coding		4177		chr20	TogoVar
POGK_chr1_166834475_166861359	166856560	A A	ACAGATCC others(2): Show ACAGATCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00621.hp2 others(65): Show HG00423.hp2 HG00438.hp1 HG00621.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01516.hp2 HG01928.hp2 HG02015.hp2 HG02040.hp1 HG02129.hp2 HG02135.hp2 HG02165.hp1 HG02523.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18973.hp2 NA18978.hp1 NA18980.hp1 NA18982.hp2 NA18985.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA19001.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19056.hp2 NA19063.hp2 NA19065.hp1 NA19082.hp1 NA19085.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 others(2): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0022 a0001c0002t0023	a0001c0002t0003g0001 a0001c0002t0003g0016 a0001c0002t0003g0020 others(9): Show a0001c0002t0003g0001 a0001c0002t0003g0016 a0001c0002t0003g0020 a0001c0002t0003g0029 a0001c0002t0003g0034 a0001c0002t0003g0058 a0001c0002t0003g0061 a0001c0002t0005g0001 a0001c0002t0005g0060 a0001c0002t0010g0001 a0001c0002t0022g0034 a0001c0002t0023g0001	68	406	0.1675	9	c.39 others(20): Show c.3990_*3991insCAGATCCAG	POGK	ENSG00000143157.12	transcript	ENST00000367876.9	protein_coding		202		chr1	TogoVar
POGLUT1_chr3_119463963_119499708	119467607	C C	CAAAAAAA others(2): Show CAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02572.hp1 others(3): Show HG01884.hp2 HG02258.hp1 HG02572.hp1 HG02895.hp2 HG03471.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0034 a0001c0001t0051 a0001c0001t0016 a0001c0001t0034 a0001c0001t0051	a0001c0001t0016g0027 a0001c0001t0016g0066 a0001c0001t0034g0042 others(2): Show a0001c0001t0016g0027 a0001c0001t0016g0066 a0001c0001t0034g0042 a0001c0001t0034g0110 a0001c0001t0051g0042	6	78	0.0769	9	c.-14 others(20): Show c.-1415_-1414insAAAAAAAAA	POGLUT1	ENSG00000163389.12	transcript	ENST00000295588.9	protein_coding		1355		chr3	TogoVar
POGLUT2_chr13_102779281_102803976	102797565	A A	AAATAATA others(2): Show AAATAATAAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00609.hp1 others(37): Show HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG01243.hp2 HG01975.hp1 HG02055.hp1 HG02258.hp2 HG02559.hp2 HG02922.hp2 HG02970.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18956.hp1 NA18957.hp2 NA18963.hp1 NA18975.hp2 NA18978.hp2 NA18980.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA19000.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp1 NA19070.hp2 NA20129.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0003 a0004c0008 a0005c0005 a0002c0003 a0004c0008 a0005c0005	a0002c0003t0002 a0002c0003t0004 a0004c0008t0002 others(1): Show a0002c0003t0002 a0002c0003t0004 a0004c0008t0002 a0005c0005t0002	a0002c0003t0002g0007 a0002c0003t0002g0016 a0002c0003t0002g0034 others(19): Show a0002c0003t0002g0007 a0002c0003t0002g0016 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0036 a0002c0003t0002g0064 a0002c0003t0002g0066 a0002c0003t0002g0067 a0002c0003t0002g0068 a0002c0003t0002g0069 a0002c0003t0002g0070 a0002c0003t0002g0071 a0002c0003t0002g0072 a0002c0003t0002g0073 a0002c0003t0004g0015 a0002c0003t0004g0024 a0002c0003t0004g0057 a0002c0003t0004g0058 a0002c0003t0004g0059 a0002c0003t0004g0060 a0004c0008t0002g0065 a0005c0005t0002g0063	40	430	0.0930	9	c.183 others(24): Show c.183-565_183-557dupATTATTATT	POGLUT2	ENSG00000134901.14	transcript	ENST00000376004.5	protein_coding	1/9			chr13	TogoVar
POGLUT3_chr11_108467116_108503384	108498956	T T	TTTATTAT others(2): Show TTTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp2 HG02165.hp1 others(4): Show HG02040.hp1 HG02040.hp2 HG02165.hp1 HG02523.hp2 HG03195.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0037 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0002g0015 a0001c0001t0003g0012	7	67	0.1045	9	c.-59 others(18): Show c.-591_-590insTAATAATAA	POGLUT3	ENSG00000178202.14	transcript	ENST00000323468.10	protein_coding		573		chr11	TogoVar
POGZ_chr1_151397724_151464494	151398423	C C	CTTTTTTT others(2): Show CTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01109.hp2 HG01346.hp1 others(11): Show HG01106.hp2 HG01109.hp2 HG01346.hp1 HG01358.hp2 HG02622.hp1 HG03540.hp2 HG03654.hp2 HG03831.hp1 HG03927.hp2 HG04199.hp2 HG04228.hp2 NA18970.hp1 NA19070.hp1 NA19085.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0014 a0001c0001 a0004c0014	a0001c0001t0001 a0001c0001t0013 a0004c0014t0001 a0001c0001t0001 a0001c0001t0013 a0004c0014t0001	a0001c0001t0001g0178 a0001c0001t0001g0232 a0001c0001t0001g0238 others(11): Show a0001c0001t0001g0178 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0286 a0001c0001t0001g0307 a0001c0001t0013g0076 a0004c0014t0001g0220	14	23	0.6087	9	c.63 others(20): Show c.6378_*6379insAAAAAAAAA	POGZ	ENSG00000143442.24	transcript	ENST00000271715.7	protein_coding		4300		chr1	TogoVar
POLB_chr8_42333494_42376808	42343345	A A	AAAAAAAT others(2): Show AAAAAAATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01109.hp2 HG01934.hp1 others(11): Show HG01071.hp1 HG01109.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02148.hp1 HG02273.hp1 HG02572.hp2 HG02735.hp1 HG02735.hp2 HG02922.hp1 HG03516.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0161 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0214 a0001c0001t0001g0227 a0001c0001t0001g0252 a0001c0001t0001g0269	14	165	0.0848	9	c.120 others(26): Show c.120-1607_120-1606insAAAAATATA	POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
POLB_chr8_42333494_42376808	42343345	A A	AAAAATAT others(2): Show AAAAATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00438.hp1 others(30): Show HG00099.hp1 HG00280.hp2 HG00438.hp1 HG00544.hp2 HG01081.hp2 HG01169.hp1 HG01433.hp1 HG01934.hp2 HG01943.hp1 HG01993.hp1 HG01993.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02486.hp2 HG02723.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG06807.hp2 NA18960.hp2 NA18965.hp2 NA18968.hp1 NA18973.hp1 NA18992.hp2 NA19006.hp1 NA19067.hp2 NA19090.hp1 NA19091.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0015 others(26): Show a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0142 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0215 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0253 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0003t0001g0171 a0002c0002t0001g0023	33	184	0.1793	9	c.120 others(26): Show c.120-1607_120-1606insAAATATATA	POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
POLB_chr8_42333494_42376808	42343345	A A	AAATATAT others(2): Show AAATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG04228.hp2 others(5): Show HG00323.hp1 HG00621.hp2 HG04228.hp2 NA18965.hp1 NA18981.hp2 NA19004.hp2 NA19011.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0141 others(5): Show a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0141 a0001c0001t0001g0159 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0196 a0001c0001t0001g0213	8	159	0.0503	9	c.120 others(26): Show c.120-1607_120-1606insATATATATA	POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
POLB_chr8_42333494_42376808	42373512	T T	TTTGTTGT others(2): Show TTTGTTGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02559.hp2 HG03098.hp2 others(8): Show HG02280.hp2 HG02559.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03516.hp2 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0105 a0001c0001t0001g0106 others(7): Show a0001c0001t0001g0011 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0136 a0001c0001t0001g0139	11	177	0.0621	9	c.18 others(20): Show c.1855_*1856insTTGTTGTTG	POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding		1705		chr8	TogoVar
POLD1_chr19_50379347_50423014	50390572	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02280.hp1 others(9): Show HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02647.hp2 HG02886.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0007 a0001c0013 a0002c0002 others(1): Show a0001c0007 a0001c0013 a0002c0002 a0008c0030	a0001c0007t0001 a0001c0013t0001 a0002c0002t0001 others(1): Show a0001c0007t0001 a0001c0013t0001 a0002c0002t0001 a0008c0030t0001	a0001c0007t0001g0001 a0001c0007t0001g0051 a0001c0007t0001g0052 others(6): Show a0001c0007t0001g0001 a0001c0007t0001g0051 a0001c0007t0001g0052 a0001c0007t0001g0053 a0001c0013t0001g0054 a0001c0013t0001g0103 a0002c0002t0001g0029 a0002c0002t0001g0059 a0008c0030t0001g0105	12	311	0.0386	9	c.-2+ others(24): Show c.-2+6190_-2+6198dupTTTTTTTTT	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
POLD1_chr19_50379347_50423014	50400133	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02976.hp1 HG04228.hp1 others(3): Show HG02698.hp2 HG02976.hp1 HG04228.hp1 NA18960.hp2 NA18969.hp2 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0094 a0002c0002t0001g0097 others(3): Show a0002c0002t0001g0074 a0002c0002t0001g0094 a0002c0002t0001g0097 a0002c0002t0001g0111 a0002c0002t0001g0310 a0002c0002t0001g0312	6	92	0.0652	9	c.316 others(24): Show c.316+669_316+677dupTTTTTTTTT	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
POLD3_chr11_74587582_74648076	74609373	T T	TATATATA others(2): Show TATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01070.hp1 HG02109.hp1 others(4): Show HG00544.hp2 HG01070.hp1 HG02109.hp1 HG02818.hp1 HG03942.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005	a0001c0002t0002g0034 a0001c0002t0002g0231 a0001c0002t0002g0232 others(4): Show a0001c0002t0002g0034 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0258 a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0005g0040	7	357	0.0196	9	c.220 others(26): Show c.220-2126_220-2125insATATATATA	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11			chr11	TogoVar
POLE_chr12_132618762_132692342	132658881	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03471.hp2 NA18942.hp2 others(4): Show HG03139.hp1 HG03471.hp2 NA18942.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19078.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0004 a0002c0021 a0001c0005 a0002c0004 a0002c0021	a0001c0005t0004 a0002c0004t0001 a0002c0021t0001 a0001c0005t0004 a0002c0004t0001 a0002c0021t0001	a0001c0005t0004g0167 a0001c0005t0004g0175 a0002c0004t0001g0014 others(3): Show a0001c0005t0004g0167 a0001c0005t0004g0175 a0002c0004t0001g0014 a0002c0004t0001g0241 a0002c0004t0001g0245 a0002c0021t0001g0243	7	67	0.1045	9	c.327 others(26): Show c.3275+405_3275+413dupTTTTTTTTT	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	26/48			chr12	TogoVar
POLM_chr7_44067062_44087530	44085359	C C	CAAAAAAA others(2): Show CAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG02145.hp2 others(8): Show HG00621.hp1 HG00735.hp2 HG02145.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG03139.hp1 HG03471.hp2 HG03704.hp2 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0018 a0001c0001t0003g0007 a0001c0001t0003g0017 others(7): Show a0001c0001t0002g0018 a0001c0001t0003g0007 a0001c0001t0003g0017 a0001c0001t0003g0034 a0001c0001t0005g0012 a0001c0001t0005g0042 a0001c0002t0001g0090 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0026	11	42	0.2619	9	c.-29 others(20): Show c.-2922_-2921insTTTTTTTTT	POLM	ENSG00000122678.17	transcript	ENST00000242248.10	protein_coding		2830		chr7	TogoVar
POLN_chr4_2066918_2247121	2201277	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02486.hp1 HG02559.hp1 others(3): Show HG00735.hp1 HG02486.hp1 HG02559.hp1 HG02896.hp1 NA18522.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0002 a0001c0002t0001 a0001c0003t0002	a0001c0002t0001g0029 a0001c0002t0001g0057 a0001c0002t0001g0068 others(3): Show a0001c0002t0001g0029 a0001c0002t0001g0057 a0001c0002t0001g0068 a0001c0003t0002g0005 a0001c0003t0002g0006 a0001c0003t0002g0007	6	9	0.6667	9	c.715 others(26): Show c.715-2569_715-2561dupTTTTTTTTT	POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	5/25			chr4	TogoVar
POLQ_chr3_121426431_121550988	121548720	T T	TTTAAAAA others(2): Show TTTAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG02273.hp1 HG02602.hp2 others(9): Show HG01169.hp2 HG02273.hp1 HG02602.hp2 HG02735.hp1 HG02895.hp2 HG02965.hp2 NA18970.hp2 NA18980.hp1 NA18983.hp1 NA19030.hp2 NA19090.hp2 NA20752.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0016 a0017	a0001c0001 a0003c0002 a0006c0007 others(2): Show a0001c0001 a0003c0002 a0006c0007 a0016c0017 a0017c0014	a0001c0001t0001 a0003c0002t0001 a0006c0007t0001 others(2): Show a0001c0001t0001 a0003c0002t0001 a0006c0007t0001 a0016c0017t0001 a0017c0014t0005	a0001c0001t0001g0134 a0001c0001t0001g0179 a0001c0001t0001g0192 others(9): Show a0001c0001t0001g0134 a0001c0001t0001g0179 a0001c0001t0001g0192 a0001c0001t0001g0250 a0001c0001t0001g0260 a0003c0002t0001g0121 a0003c0002t0001g0266 a0006c0007t0001g0275 a0006c0007t0001g0278 a0016c0017t0001g0249 a0017c0014t0005g0021 a0017c0014t0005g0022	12	84	0.1429	9	c.-28 others(20): Show c.-2844_-2843insTTTTTTTAA	POLQ	ENSG00000051341.15	transcript	ENST00000264233.6	protein_coding		2733		chr3	TogoVar
POLR1A_chr2_86015216_86110886	86068386	C C	CGGGGGGG others(2): Show CGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG01070.hp1 others(23): Show HG00423.hp1 HG00438.hp2 HG01070.hp1 HG01175.hp2 HG01257.hp1 HG01934.hp2 HG01943.hp1 HG01993.hp2 HG02015.hp1 HG02572.hp2 HG03139.hp2 HG03239.hp2 HG03579.hp1 HG03669.hp1 HG03831.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18747.hp1 NA18940.hp2 NA18966.hp1 NA18971.hp2 NA18972.hp1 NA18980.hp1 NA19001.hp2 NA19056.hp1	a0001 a0005 a0017 a0001 a0005 a0017	a0001c0001 a0001c0012 a0001c0016 others(3): Show a0001c0001 a0001c0012 a0001c0016 a0001c0024 a0005c0006 a0017c0025	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0017 a0001c0001t0034 a0001c0001t0036 a0001c0012t0002 a0001c0016t0012 a0001c0024t0001 a0005c0006t0009 a0005c0006t0044 a0017c0025t0001	a0001c0001t0001g0011 a0001c0001t0001g0180 a0001c0001t0001g0191 others(22): Show a0001c0001t0001g0011 a0001c0001t0001g0180 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0004g0231 a0001c0001t0012g0192 a0001c0001t0017g0178 a0001c0001t0034g0242 a0001c0001t0036g0266 a0001c0012t0002g0146 a0001c0012t0002g0152 a0001c0016t0012g0190 a0001c0024t0001g0324 a0005c0006t0009g0110 a0005c0006t0044g0080 a0017c0025t0001g0268	26	87	0.2989	9	c.186 others(28): Show c.1866+1623_1866+1631dupCCCCCCCCC	POLR1A	ENSG00000068654.17	transcript	ENST00000263857.11	protein_coding	13/33			chr2	TogoVar
POLR1A_chr2_86015216_86110886	86097214	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG00733.hp1 others(12): Show HG00423.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG02083.hp2 HG02293.hp1 HG02523.hp2 HG02818.hp2 HG03017.hp1 HG03669.hp1 HG03831.hp2 NA18971.hp2 NA18977.hp1 NA19001.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0020 a0001c0024t0001	a0001c0001t0001g0011 a0001c0001t0001g0227 a0001c0001t0001g0228 others(11): Show a0001c0001t0001g0011 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0251 a0001c0001t0004g0231 a0001c0001t0012g0174 a0001c0001t0020g0319 a0001c0024t0001g0324	15	83	0.1807	9	c.432 others(26): Show c.432+1388_432+1396dupTTTTTTTTT	POLR1A	ENSG00000068654.17	transcript	ENST00000263857.11	protein_coding	3/33			chr2	TogoVar
POLR1G_chr19_45401644_45415737	45409892	A A	ATTTTTTT others(2): Show ATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp1 HG01175.hp1 HG02258.hp1 others(8): Show HG00423.hp1 HG01175.hp1 HG02258.hp1 HG02280.hp2 HG02735.hp1 HG02976.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03942.hp2 HG04184.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0025 a0004c0004t0041 a0004c0004t0042 others(4): Show a0004c0004t0025 a0004c0004t0041 a0004c0004t0042 a0004c0004t0092 a0004c0004t0093 a0004c0004t0096 a0004c0004t0097	a0004c0004t0025g0001 a0004c0004t0025g0020 a0004c0004t0041g0001 others(5): Show a0004c0004t0025g0001 a0004c0004t0025g0020 a0004c0004t0041g0001 a0004c0004t0042g0001 a0004c0004t0092g0001 a0004c0004t0093g0001 a0004c0004t0096g0001 a0004c0004t0097g0001	11	365	0.0301	9	c.39 others(18): Show c.393_*394insTTTTTTTTT	POLR1G	ENSG00000117877.11	transcript	ENST00000309424.8	protein_coding	3/3	394	INFO_REALIGN_3_PRIME	chr19	TogoVar
POLR2C_chr16_57457679_57477009	57475696	C C	CTCTCTCT others(2): Show CTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG03669.hp1 HG04184.hp2 others(1): Show HG02015.hp2 HG03669.hp1 HG04184.hp2 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0002t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0002t0001g0002	4	382	0.0105	9	c.45 others(20): Show c.4577_*4578insTCTCTCTCT	POLR2C	ENSG00000102978.13	transcript	ENST00000219252.10	protein_coding		3688		chr16	TogoVar
POLR2D_chr2_127838553_127863155	127844107	C C	CAAAAAAA others(2): Show CAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG00735.hp1 others(18): Show HG00639.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG02109.hp1 HG02135.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02615.hp1 HG02809.hp1 HG02818.hp1 HG02976.hp2 HG03130.hp1 HG03471.hp1 HG03486.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18956.hp2 NA19001.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0015 a0001c0003t0023 others(7): Show a0001c0003t0011 a0001c0003t0015 a0001c0003t0023 a0001c0003t0024 a0001c0003t0031 a0001c0003t0036 a0001c0003t0080 a0001c0003t0082 a0001c0003t0091 a0001c0003t0103	a0001c0003t0011g0040 a0001c0003t0011g0254 a0001c0003t0011g0258 others(15): Show a0001c0003t0011g0040 a0001c0003t0011g0254 a0001c0003t0011g0258 a0001c0003t0015g0031 a0001c0003t0015g0130 a0001c0003t0015g0132 a0001c0003t0023g0030 a0001c0003t0023g0148 a0001c0003t0024g0118 a0001c0003t0024g0129 a0001c0003t0024g0135 a0001c0003t0031g0145 a0001c0003t0031g0146 a0001c0003t0036g0255 a0001c0003t0080g0128 a0001c0003t0082g0133 a0001c0003t0091g0144 a0001c0003t0103g0136	21	152	0.1382	9	c.39 others(20): Show c.3991_*3999dupTTTTTTTTT	POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	4/4	3999		chr2	TogoVar
POLR2D_chr2_127838553_127863155	127856290	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02135.hp1 HG02622.hp2 others(12): Show HG01069.hp2 HG02135.hp1 HG02622.hp2 HG03239.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 NA18964.hp1 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18989.hp2 NA18997.hp1 NA19080.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0022 a0001c0001t0067 others(6): Show a0001c0001t0002 a0001c0001t0022 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0002t0003 a0001c0002t0016 a0001c0002t0096	a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0022g0067 others(10): Show a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0022g0067 a0001c0001t0022g0068 a0001c0001t0022g0071 a0001c0001t0067g0066 a0001c0001t0068g0069 a0001c0001t0069g0072 a0001c0001t0070g0070 a0001c0002t0003g0008 a0001c0002t0003g0065 a0001c0002t0016g0063 a0001c0002t0096g0064	15	19	0.7895	9	c.73+ others(24): Show c.73+1729_73+1737dupTTTTTTTTT	POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	1/3			chr2	TogoVar
POLR2J2_chr7_102661046_102676663	102664310	C C	CTTTTTTT others(2): Show CTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00733.hp2 HG01099.hp1 others(14): Show HG00558.hp1 HG00733.hp2 HG01099.hp1 HG01099.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02273.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02965.hp1 HG03486.hp1 HG03579.hp2 NA18943.hp1 NA18969.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0003c0003t0001g0016 a0003c0003t0001g0022 a0003c0003t0001g0025	17	36	0.4722	9	c.18 others(20): Show c.1820_*1821insAAAAAAAAA	POLR2J2	ENSG00000228049.8	transcript	ENST00000333432.9	protein_coding		1735		chr7	TogoVar
POLR2J3_chr7_102561966_102577583	102565227	C C	CTTTTTTT others(2): Show CTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 NA18981.hp2 NA19003.hp1 others(1): Show HG04115.hp2 NA18981.hp2 NA19003.hp1 NA19060.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0001 a0001c0002 a0003c0001	a0001c0002t0001 a0003c0001t0002 a0001c0002t0001 a0003c0001t0002	a0001c0002t0001g0007 a0003c0001t0002g0001 a0001c0002t0001g0007 a0003c0001t0002g0001	4	22	0.1818	9	c.18 others(20): Show c.1815_*1823dupAAAAAAAAA	POLR2J3	ENSG00000285437.2	transcript	ENST00000621093.5	protein_coding		1738		chr7	TogoVar
POLR3B_chr12_106352748_106515198	106514045	A A	AAAAAAAA others(2): Show AAAAAAAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02630.hp2 others(1): Show HG01891.hp1 HG02109.hp1 HG02630.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0007 a0001c0001t0001 a0001c0009t0007	a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 others(1): Show a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0009t0007g0019	4	302	0.0132	9	c.44 others(20): Show c.4496_*4497insAAAAAAAGT	POLR3B	ENSG00000013503.10	transcript	ENST00000228347.9	protein_coding		3848		chr12	TogoVar
POLR3D_chr8_22240133_22259601	22241876	C C	CTTTTTTT others(2): Show CTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00544.hp2 others(103): Show HG00280.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01192.hp1 HG01261.hp2 HG01358.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02155.hp2 HG02257.hp2 HG02602.hp1 HG02622.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp2 HG03017.hp1 HG03209.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18995.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0002c0005 others(3): Show a0001c0001 a0001c0002 a0002c0005 a0003c0010 a0004c0007 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0002t0002 a0002c0005t0001 a0003c0010t0002 a0004c0007t0001 a0005c0008t0005	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0037 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0003g0001 a0001c0001t0003g0019 a0001c0001t0005g0001 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0010g0001 a0001c0001t0014g0002 a0001c0001t0016g0003 a0001c0001t0022g0001 a0001c0001t0023g0003 a0001c0001t0026g0021 a0001c0001t0031g0001 a0001c0001t0034g0002 a0001c0001t0035g0002 a0001c0002t0002g0003 a0002c0005t0001g0002 a0003c0010t0002g0003 a0004c0007t0001g0038 a0005c0008t0005g0001	106	226	0.4690	9	c.-33 others(20): Show c.-3313_-3312insTTTTTTTTT	POLR3D	ENSG00000168495.13	transcript	ENST00000306433.9	protein_coding		3256		chr8	TogoVar
POLR3F_chr20_18462390_18489646	18482262	G G	GCATGTGC others(2): Show GCATGTGCCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG03195.hp1 others(1): Show HG01891.hp2 HG02055.hp2 HG03195.hp1 HG03471.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0009 a0001c0002 a0006c0009	a0001c0002t0009 a0006c0009t0009 a0001c0002t0009 a0006c0009t0009	a0001c0002t0009g0042 a0001c0002t0009g0046 a0001c0002t0009g0122 others(1): Show a0001c0002t0009g0042 a0001c0002t0009g0046 a0001c0002t0009g0122 a0006c0009t0009g0115	4	450	0.0089	9	c.873 others(24): Show c.873+454_873+462dupATGTGCCCC	POLR3F	ENSG00000132664.13	transcript	ENST00000377603.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr20	TogoVar

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