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
PHF3_chr6_63630802_63731011	63688254	T T	TCCCCTCC others(17): Show TCCCCTCCTCCCCTCCCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0301 a0001c0001t0083g0301	1	320	0.0031	24	c.218 others(43): Show c.2189+2345_2189+2346insCCTCCTCCCCTCCCCCCTCCCCCC	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHF3_chr6_63630802_63731011	63727733	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0076 a0001c0001t0007g0076	1	320	0.0031	24	c.14 others(37): Show c.14025_*14026insATATATATATATATATATATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1723		chr6	TogoVar
PHF3_chr6_63630802_63731011	63727737	A A	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02976.hp1 HG02970.hp2 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0068 a0002c0002t0016 a0002c0002t0068	a0002c0002t0016g0023 a0002c0002t0068g0024 a0002c0002t0016g0023 a0002c0002t0068g0024	2	320	0.0063	24	c.14 others(37): Show c.14029_*14030insAAAAATATATATATATATATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1727		chr6	TogoVar
PHF3_chr6_63630802_63731011	63727737	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0002 a0002c0002t0011g0002	1	320	0.0031	24	c.14 others(37): Show c.14029_*14030insAAATATATATATATATATATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1727		chr6	TogoVar
PHF6_chrX_134368312_134433790	134406062	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	283	0.0035	24	c.419 others(41): Show c.419-7401_419-7378dupCTTTCTTTCTTTCTTTCTTTCTTT	PHF6	ENSG00000156531.18	transcript	ENST00000370803.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PHLDB2_chr3_111854265_111981517	111866014	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18954.hp2 NA19003.hp2 HG02723.hp2 NA18954.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0001t0018 a0001c0004t0016 a0001c0001t0004 a0001c0001t0018 a0001c0004t0016	a0001c0001t0004g0177 a0001c0001t0018g0179 a0001c0004t0016g0178 a0001c0001t0004g0177 a0001c0001t0018g0179 a0001c0004t0016g0178	3	286	0.0105	24	c.-15 others(41): Show c.-15+6439_-15+6462dupTTTTTTTTTTTTTTTTTTTTTTTT	PHLDB2	ENSG00000144824.21	transcript	ENST00000431670.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PHLDB3_chr19_43470103_43509746	43487591	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01099.hp2 HG02040.hp2 others(5): Show HG00140.hp2 HG01099.hp2 HG02040.hp2 HG03491.hp1 NA18945.hp2 NA18964.hp1 NA19054.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 others(5): Show a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0069	8	396	0.0202	24	c.115 others(41): Show c.1150-469_1150-468insGTTTTTTTTTTTTTTTTTTTTTTT	PHLDB3	ENSG00000176531.11	transcript	ENST00000292140.10	protein_coding	9/15			chr19	TogoVar
PHLPP1_chr18_62710541_62985433	62766074	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	192	0.0052	24	c.157 others(45): Show c.1576+48816_1576+48817insTATATATATATATATATATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG04115.hp1 HG02486.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0023 a0001c0001t0007g0094 a0001c0001t0001g0023 a0001c0001t0007g0094	2	192	0.0104	24	c.157 others(45): Show c.1576+48818_1576+48819insAAAATATATATATATATATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03540.hp1 HG02896.hp1 HG03540.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0014 a0001c0001 a0008c0014	a0001c0001t0002 a0008c0014t0001 a0001c0001t0002 a0008c0014t0001	a0001c0001t0002g0101 a0008c0014t0001g0138 a0001c0001t0002g0101 a0008c0014t0001g0138	2	192	0.0104	24	c.157 others(45): Show c.1576+48821_1576+48844dupTATATATATATATATATATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62849826	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	192	0.0052	24	c.190 others(45): Show c.1900-10608_1900-10607insTATATATATATATATATATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62918429	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0110 a0001c0002t0012g0110	1	192	0.0052	24	c.280 others(43): Show c.2805-1512_2805-1511insATATATATATATATATATATATAT	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP2_chr16_71639924_71729701	71670695	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp1 HG01099.hp1 others(35): Show HG00140.hp1 HG00733.hp1 HG01099.hp1 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01496.hp1 HG01978.hp1 HG01981.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02293.hp1 HG02523.hp2 HG02735.hp1 HG03471.hp2 NA18950.hp1 NA18957.hp2 NA18961.hp1 NA18964.hp2 NA18973.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18984.hp1 NA18990.hp2 NA18994.hp2 NA19003.hp1 NA19004.hp1 NA19010.hp1 NA19054.hp1 NA19058.hp1 NA19066.hp1 NA19074.hp1 NA19078.hp2 NA19087.hp1 NA20129.hp1 NA21309.hp2	a0001 a0004 a0015 a0001 a0004 a0015	a0001c0001 a0001c0024 a0004c0006 others(1): Show a0001c0001 a0001c0024 a0004c0006 a0015c0022	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0024t0005 a0004c0006t0001 a0015c0022t0001	a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0040 others(35): Show a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0005g0119 a0001c0001t0011g0095 a0001c0001t0011g0107 a0001c0024t0005g0129 a0004c0006t0001g0047 a0004c0006t0001g0054 a0004c0006t0001g0060 a0004c0006t0001g0073 a0004c0006t0001g0076 a0004c0006t0001g0081 a0004c0006t0001g0088 a0004c0006t0001g0091 a0004c0006t0001g0099 a0015c0022t0001g0032	38	324	0.1173	24	c.153 others(43): Show c.1533-1349_1533-1326dupGTGTGTGTGTGTGTGTGTGTGTGT	PHLPP2	ENSG00000040199.18	transcript	ENST00000568954.5	protein_coding	10/18			chr16	TogoVar
PHLPP2_chr16_71639924_71729701	71719964	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	324	0.0031	24	c.-7+ others(39): Show c.-7+4341_-7+4364dupAAAAAAAAAAAAAAAAAAAAAAAA	PHLPP2	ENSG00000040199.18	transcript	ENST00000568954.5	protein_coding	1/18			chr16	TogoVar
PHOSPHO1_chr17_49218366_49235787	49232385	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02615.hp2 HG02647.hp1 others(4): Show HG02486.hp1 HG02615.hp2 HG02647.hp1 HG03098.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0035 others(2): Show a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0035 a0001c0001t0003g0105 a0001c0001t0003g0106	7	420	0.0167	24	c.-19 others(35): Show c.-1986_-1985insTTTTTTTTTTTTTTTTTTTTTTTT	PHOSPHO1	ENSG00000173868.12	transcript	ENST00000310544.9	protein_coding		1599		chr17	TogoVar
PHYHD1_chr9_128915982_128947038	128918310	G G	GGGTTTTT others(17): Show GGGTTTTTTTTGTTGTTGGTTGGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00673.hp1 HG01433.hp1 others(25): Show HG00323.hp2 HG00673.hp1 HG01433.hp1 HG02015.hp1 HG02071.hp1 HG02080.hp2 HG02132.hp1 HG02155.hp1 HG03017.hp2 HG03490.hp1 HG03710.hp1 HG04204.hp1 NA18955.hp2 NA18957.hp1 NA18963.hp2 NA18968.hp2 NA18983.hp1 NA18985.hp2 NA18988.hp2 NA19005.hp1 NA19010.hp1 NA19056.hp1 NA19064.hp1 NA19065.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0001	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0086 others(19): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0093 a0001c0001t0002g0103 a0001c0001t0002g0148 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0166 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0009g0128 a0001c0002t0001g0012 a0001c0002t0001g0234 a0001c0002t0001g0238 a0001c0002t0001g0255 a0001c0002t0001g0259 a0001c0002t0001g0264 a0001c0002t0001g0268	28	404	0.0693	24	c.-35 others(35): Show c.-3518_-3517insGGTTTTTTTTGTTGTTGGTTGGTT	PHYHD1	ENSG00000175287.19	transcript	ENST00000372592.8	protein_coding		2671		chr9	TogoVar
PHYHD1_chr9_128915982_128947038	128918313	G G	GTTTTTTT others(17): Show GTTTTTTTGTTGTTGGTTGGTTGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0008	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0004 a0005c0007 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0011 a0001c0002t0016 a0001c0005t0005 a0001c0005t0007 a0002c0003t0007 a0002c0003t0008 a0003c0004t0001 a0005c0007t0001 a0008c0008t0002	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0016 others(166): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0094 a0001c0001t0002g0107 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0191 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0308 a0001c0001t0003g0028 a0001c0001t0003g0084 a0001c0001t0003g0106 a0001c0001t0003g0119 a0001c0001t0003g0137 a0001c0001t0003g0139 a0001c0001t0003g0145 a0001c0001t0017g0029 a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0031 a0001c0002t0001g0036 a0001c0002t0001g0221 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0236 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0253 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0002g0006 a0001c0002t0002g0012 a0001c0002t0002g0033 a0001c0002t0002g0248 a0001c0002t0002g0265 a0001c0002t0002g0279 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0004g0013 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0290 a0001c0002t0004g0293 a0001c0002t0004g0297 a0001c0002t0004g0298 a0001c0002t0004g0299 a0001c0002t0004g0300 a0001c0002t0004g0302 a0001c0002t0004g0303 a0001c0002t0006g0206 a0001c0002t0006g0207 a0001c0002t0006g0209 a0001c0002t0006g0210 a0001c0002t0006g0211 a0001c0002t0006g0212 a0001c0002t0006g0214 a0001c0002t0006g0215 a0001c0002t0006g0216 a0001c0002t0006g0217 a0001c0002t0006g0218 a0001c0002t0011g0277 a0001c0002t0016g0213 a0001c0005t0005g0041 a0001c0005t0007g0039 a0002c0003t0007g0046 a0002c0003t0007g0047 a0002c0003t0007g0048 a0002c0003t0008g0291 a0002c0003t0008g0292 a0003c0004t0001g0004 a0003c0004t0001g0269 a0005c0007t0001g0261 a0008c0008t0002g0002	218	404	0.5396	24	c.-35 others(35): Show c.-3515_-3514insTTTTTTTGTTGTTGGTTGGTTGGT	PHYHD1	ENSG00000175287.19	transcript	ENST00000372592.8	protein_coding		2668		chr9	TogoVar
PHYHD1_chr9_128915982_128947038	128918318	T T	TTTGTTGT others(17): Show TTTGTTGTTGGTTGGTTGGTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02976.hp1 HG03195.hp1 HG02145.hp2 HG02976.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0065 a0001c0001t0002g0184 a0001c0001t0002g0051 a0001c0001t0002g0065 a0001c0001t0002g0184	3	404	0.0074	24	c.-35 others(35): Show c.-3510_-3509insTTGTTGTTGGTTGGTTGGTTTTTG	PHYHD1	ENSG00000175287.19	transcript	ENST00000372592.8	protein_coding		2663		chr9	TogoVar
PHYHIPL_chr10_59171643_59252770	59227975	G G	GAGAGATA others(17): Show GAGAGATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	202	0.0050	24	c.107 others(41): Show c.107-6328_107-6327insGAGATATATATATATATATATATA	PHYHIPL	ENSG00000165443.12	transcript	ENST00000373880.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHYHIPL_chr10_59171643_59252770	59227975	G G	GAGATATA others(17): Show GAGATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00733.hp1 others(12): Show HG00558.hp2 HG00597.hp1 HG00733.hp1 HG02602.hp1 HG03540.hp1 NA18939.hp2 NA18946.hp1 NA18959.hp2 NA18970.hp1 NA18981.hp1 NA18997.hp2 NA19003.hp2 NA19067.hp2 NA19083.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0034 others(12): Show a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058	15	202	0.0743	24	c.107 others(41): Show c.107-6328_107-6327insGATATATATATATATATATATATA	PHYHIPL	ENSG00000165443.12	transcript	ENST00000373880.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHYHIPL_chr10_59171643_59252770	59227975	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp1 HG02965.hp1 others(3): Show HG01884.hp1 HG02647.hp1 HG02965.hp1 HG03486.hp1 NA18954.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 others(3): Show a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0001g0112 a0001c0001t0002g0050	6	202	0.0297	24	c.107 others(41): Show c.107-6317_107-6316insATATATATATATATATATATATAT	PHYHIPL	ENSG00000165443.12	transcript	ENST00000373880.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHYH_chr10_13272799_13305064	13298718	C C	CACTACTA others(17): Show CACTACTACTACTACTACTACTACT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0174	1	438	0.0023	24	c.76- others(37): Show c.76-497_76-474dupAGTAGTAGTAGTAGTAGTAGTAGT	PHYH	ENSG00000107537.14	transcript	ENST00000263038.9	protein_coding	1/8			chr10	TogoVar
PHYH_chr10_13272799_13305064	13304524	T T	TTAAATAA others(17): Show TTAAATAAATAAATAAATAAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00642.hp2 others(29): Show HG00140.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01346.hp2 HG01496.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02040.hp1 HG02055.hp1 HG02074.hp2 HG02165.hp2 HG02257.hp2 HG02300.hp2 HG02523.hp1 HG02698.hp2 HG02976.hp2 NA18945.hp2 NA18953.hp2 NA18963.hp1 NA18968.hp1 NA18971.hp2 NA18975.hp1 NA18998.hp2 NA19001.hp1 NA19005.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0003	a0001c0001t0001g0161 a0001c0001t0001g0236 a0001c0001t0001g0251 others(26): Show a0001c0001t0001g0161 a0001c0001t0001g0236 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0284 a0001c0001t0001g0303 a0001c0001t0001g0313 a0001c0001t0001g0325 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0253 a0001c0001t0002g0275 a0001c0001t0002g0282 a0001c0001t0002g0309 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0331 a0001c0001t0002g0334 a0001c0001t0002g0342 a0001c0001t0002g0357 a0001c0001t0002g0367 a0001c0001t0003g0187 a0001c0001t0003g0242 a0001c0001t0004g0230 a0001c0002t0003g0163	32	438	0.0731	24	c.-44 others(35): Show c.-4483_-4482insTTTATTTATTTATTTATTTATTTA	PHYH	ENSG00000107537.14	transcript	ENST00000263038.9	protein_coding		4461		chr10	TogoVar
PHYKPL_chr5_178203471_178237802	178203504	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 NA18948.hp1 NA19011.hp1 others(1): Show HG01891.hp1 NA18948.hp1 NA19011.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0151 a0001c0001t0001g0164 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0151 a0001c0001t0001g0164 a0001c0001t0002g0290	4	440	0.0091	24	c.54 others(35): Show c.5442_*5443insTTTTTTTTTTTTTTTTTTTTTTTT	PHYKPL	ENSG00000175309.15	transcript	ENST00000308158.10	protein_coding		4966		chr5	TogoVar
PI4K2A_chr10_97635671_97681434	97642850	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	350	0.0029	24	c.435 others(41): Show c.435+1676_435+1677insCCTTCCTTCCTTCCTTTCTTTCTT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PI4K2A_chr10_97635671_97681434	97642850	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	350	0.0029	24	c.435 others(41): Show c.435+1676_435+1677insCCTTCCTTCCTTTCTTTCTTTCTT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PI4KA_chr22_20702691_20863811	20780775	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01074.hp2 HG01123.hp2 others(9): Show HG00673.hp1 HG01074.hp2 HG01123.hp2 HG02165.hp1 HG02698.hp2 HG03239.hp1 HG03704.hp1 HG04199.hp1 NA18949.hp1 NA18970.hp1 NA18999.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0304 a0001c0003t0003g0305 a0001c0003t0003g0313 others(9): Show a0001c0003t0003g0304 a0001c0003t0003g0305 a0001c0003t0003g0313 a0001c0003t0003g0317 a0001c0003t0003g0318 a0001c0003t0003g0321 a0001c0003t0003g0322 a0001c0003t0003g0323 a0001c0003t0003g0324 a0001c0003t0003g0331 a0001c0003t0003g0332 a0001c0003t0003g0333	12	334	0.0359	24	c.232 others(45): Show c.2328+12417_2328+12418insTTTTTTTTTTTTTTTTTTTTTTTT	PI4KA	ENSG00000241973.11	transcript	ENST00000255882.11	protein_coding	19/54			chr22	TogoVar
PIAS1_chr15_68049315_68198847	68050450	T T	TATATATA others(17): Show TATATATATATTCATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01167.hp1 HG01255.hp1 others(40): Show HG01074.hp1 HG01167.hp1 HG01255.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19084.hp2 NA19086.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0018 a0001c0001t0021 a0001c0001t0026 a0001c0001t0032 a0001c0001t0034	a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 others(40): Show a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0145 a0001c0001t0002g0156 a0001c0001t0002g0252 a0001c0001t0003g0113 a0001c0001t0003g0123 a0001c0001t0004g0122 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0005g0236 a0001c0001t0005g0237 a0001c0001t0005g0238 a0001c0001t0005g0239 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0005g0242 a0001c0001t0005g0244 a0001c0001t0005g0245 a0001c0001t0010g0169 a0001c0001t0018g0139 a0001c0001t0018g0166 a0001c0001t0021g0168 a0001c0001t0021g0243 a0001c0001t0026g0098 a0001c0001t0032g0076 a0001c0001t0034g0100	43	260	0.1654	24	c.-38 others(35): Show c.-3877_-3876insATATATATATTCATATATATATAC	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding		3864		chr15	TogoVar
PIAS1_chr15_68049315_68198847	68050492	T T	TATACATA others(17): Show TATACATATATATTCATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02809.hp1 others(4): Show HG02258.hp2 HG02572.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG03139.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0015 a0001c0001t0016 a0001c0001t0031 others(1): Show a0001c0001t0015 a0001c0001t0016 a0001c0001t0031 a0001c0006t0015	a0001c0001t0015g0010 a0001c0001t0016g0007 a0001c0001t0016g0011 others(4): Show a0001c0001t0015g0010 a0001c0001t0016g0007 a0001c0001t0016g0011 a0001c0001t0016g0012 a0001c0001t0031g0013 a0001c0006t0015g0008 a0001c0006t0015g0009	7	260	0.0269	24	c.-38 others(35): Show c.-3835_-3834insATACATATATATTCATATATATAC	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding		3822		chr15	TogoVar
PIAS1_chr15_68049315_68198847	68050538	A A	AATATATA others(17): Show AATATATATATTCATATATATATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01934.hp2 HG01952.hp1 others(3): Show HG01167.hp1 HG01934.hp2 HG01952.hp1 HG02523.hp1 NA19084.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0018	a0001c0001t0002g0145 a0001c0001t0002g0252 a0001c0001t0003g0113 others(3): Show a0001c0001t0002g0145 a0001c0001t0002g0252 a0001c0001t0003g0113 a0001c0001t0003g0123 a0001c0001t0004g0122 a0001c0001t0018g0139	6	260	0.0231	24	c.-37 others(35): Show c.-3789_-3788insATATATATATTCATATATATATTC	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding		3776		chr15	TogoVar
PIAS1_chr15_68049315_68198847	68088176	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0088 a0001c0001t0005g0088	1	260	0.0039	24	c.469 others(41): Show c.469+1428_469+1451dupATATATATATATATATATATATAT	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
PIAS1_chr15_68049315_68198847	68088176	G G	GTATGTAT others(17): Show GTATGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp1 HG02572.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0031 a0001c0006t0015 a0001c0001t0031 a0001c0006t0015	a0001c0001t0031g0013 a0001c0006t0015g0008 a0001c0001t0031g0013 a0001c0006t0015g0008	2	260	0.0077	24	c.469 others(41): Show c.469+1429_469+1430insGTATATATATATATATATATATAT	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
PIAS1_chr15_68049315_68198847	68088176	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	260	0.0039	24	c.469 others(41): Show c.469+1427_469+1428insGTATATATATATATATATATATAT	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
PIAS1_chr15_68049315_68198847	68088176	G G	GTGTGTGT others(17): Show GTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0017 a0001c0009t0017	a0001c0009t0017g0177 a0001c0009t0017g0177	1	260	0.0039	24	c.469 others(41): Show c.469+1427_469+1428insGTGTGTATATATATATATATATAT	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
PIAS1_chr15_68049315_68198847	68151707	C C	CACACACA others(17): Show CACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02922.hp2 HG03195.hp1 HG02723.hp1 HG02922.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0036 a0001c0001t0001 a0001c0001t0036	a0001c0001t0001g0045 a0001c0001t0001g0066 a0001c0001t0036g0006 a0001c0001t0001g0045 a0001c0001t0001g0066 a0001c0001t0036g0006	3	260	0.0115	24	c.829 others(41): Show c.829-1882_829-1881insCACACACACACACACACACACAAA	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
PIAS1_chr15_68049315_68198847	68182490	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0027	1	260	0.0039	24	c.162 others(43): Show c.1625-1137_1625-1114dupGTGTGTGTGTGTGTGTGTGTGTGT	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
PIAS1_chr15_68049315_68198847	68193806	T T	TAAAATCA others(17): Show TAAAATCAATACAAATCTTTTATTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG01106.hp2 others(1): Show HG00140.hp2 HG00735.hp1 HG01106.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0199 a0001c0001t0011g0200 a0001c0001t0011g0205 others(1): Show a0001c0001t0011g0199 a0001c0001t0011g0200 a0001c0001t0011g0205 a0001c0001t0011g0210	4	260	0.0154	24	c.59 others(35): Show c.5974_*5997dupAATCAATACAAATCTTTTATTAAA	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	14/14	5998	INFO_REALIGN_3_PRIME	chr15	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0134 a0001c0001t0134	a0001c0001t0134g0275 a0001c0001t0134g0275	1	322	0.0031	24	c.50 others(35): Show c.5049_*5050insAAAATATATATATATATATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIBF1_chr13_72777133_73021461	72844728	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	346	0.0029	24	c.122 others(43): Show c.1224-9280_1224-9257dupACACACACACACACACACACACAC	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72844789	A A	ACACACAC others(17): Show ACACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp2 HG02647.hp1 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0209 a0002c0002t0002g0226 a0002c0002t0002g0209 a0002c0002t0002g0226	2	346	0.0058	24	c.122 others(43): Show c.1224-9257_1224-9256insACACACACACACGCACACACACAC	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72892785	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	346	0.0029	24	c.132 others(41): Show c.1323-998_1323-975dupACACACACACACACACACACACAC	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72902006	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp2 HG01070.hp1 others(15): Show HG00140.hp1 HG00741.hp2 HG01070.hp1 HG01192.hp1 HG01981.hp1 HG02004.hp1 HG02074.hp1 HG02080.hp1 HG02683.hp1 HG03654.hp2 HG04199.hp1 NA18944.hp1 NA18954.hp2 NA18955.hp2 NA18966.hp2 NA18988.hp1 NA19063.hp1 NA19086.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0001t0001g0252 others(15): Show a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0291 a0001c0001t0001g0312 a0001c0001t0001g0320 a0003c0003t0001g0237 a0003c0003t0001g0239 a0003c0003t0001g0245 a0003c0003t0001g0246 a0003c0003t0001g0292 a0003c0003t0001g0293	18	346	0.0520	24	c.148 others(43): Show c.1489-6508_1489-6507insGTGTGTGTGTGTGTGTGTGTGTGT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72904433	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18955.hp2 NA18962.hp2 others(2): Show HG02040.hp1 NA18955.hp2 NA18962.hp2 NA19007.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0288 a0001c0001t0001g0289 others(2): Show a0001c0001t0001g0096 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0308 a0001c0001t0001g0312	5	346	0.0145	24	c.148 others(43): Show c.1489-4096_1489-4073dupTTTTTTTTTTTTTTTTTTTTTTTT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72931718	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01081.hp2 HG01256.hp1 others(6): Show HG00408.hp2 HG01081.hp2 HG01256.hp1 HG01258.hp1 NA18963.hp2 NA18988.hp2 NA18994.hp1 NA19003.hp1 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0002c0002t0007 a0001c0001t0001 a0002c0002t0003 a0002c0002t0007	a0001c0001t0001g0258 a0002c0002t0003g0013 a0002c0002t0003g0023 others(6): Show a0001c0001t0001g0258 a0002c0002t0003g0013 a0002c0002t0003g0023 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0054 a0002c0002t0003g0061 a0002c0002t0003g0067 a0002c0002t0007g0084	9	346	0.0260	24	c.183 others(41): Show c.1833+453_1833+476dupATATATATATATATATATATATAT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	73001582	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	346	0.0029	24	c.222 others(43): Show c.2223+2605_2223+2606insTTTTTTTTTTTTTTTTTTTTTTTT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PID1_chr2_229018973_229276287	229134231	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	256	0.0039	24	c.177 others(43): Show c.177+21586_177+21587insAAAAAAAAAAAAAAAAAAAAAAAA	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PID1_chr2_229018973_229276287	229139057	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGAAAGAGAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	256	0.0039	24	c.177 others(43): Show c.177+16760_177+16761insTTCTCTTTCTTTCTTTCTTTCTTT	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PID1_chr2_229018973_229276287	229163674	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	256	0.0039	24	c.31- others(39): Show c.31-7711_31-7710insGCGCGCACACACACACACACACAC	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2			chr2	TogoVar
PIEZO2_chr18_10665247_11154569	10720234	G G	GCGTATAT others(17): Show GCGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0147 a0001c0003t0002g0147	1	158	0.0063	24	c.503 others(43): Show c.5030-1976_5030-1975insTATATATATATATATATATATACG	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886323	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0002 a0002c0023t0002	a0002c0023t0002g0103 a0002c0023t0002g0103	1	158	0.0063	24	c.330 others(43): Show c.330-14909_330-14908insATATATATATATATATATATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar

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