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
PLPP6_chr9_4657294_4670258	4661749	T T	TCCAACTG others(16): Show TCCAACTGCGGTTTTGCTTCAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG01070.hp2 others(29): Show HG00099.hp1 HG00733.hp1 HG01070.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01517.hp2 HG01952.hp2 HG02071.hp1 HG02080.hp2 HG02135.hp2 HG02602.hp2 HG03017.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG04199.hp1 HG04228.hp2 NA18747.hp1 NA18942.hp2 NA18961.hp1 NA19009.hp1 NA19060.hp2 NA19079.hp2 NA19086.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0002c0002t0005	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0006g0000 a0002c0002t0005g0000	32	277	0.1155	23	c.-62 others(32): Show c.-627_-626insCCAACTGCGGTTTTGCTTCAAGG	PLPP6	ENSG00000205808.7	transcript	ENST00000381883.5	protein_coding		544		chr9	TogoVar
PLPP6_chr9_4657294_4670258	4661749	T T	TCCGACTG others(16): Show TCCGACTGCGGTTTTGCTTCAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(196): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19080.hp2 NA19081.hp2 NA19086.hp1 NA19087.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0026 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0010 a0003c0003t0002 a0004c0004t0013	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(18): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0001t0009g0000 a0001c0001t0011g0000 a0001c0001t0013g0000 a0001c0001t0014g0000 a0001c0001t0015g0000 a0001c0001t0017g0000 a0001c0001t0026g0000 a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0002t0005g0000 a0002c0002t0010g0000 a0003c0003t0002g0000 a0004c0004t0013g0000	199	444	0.4482	23	c.-62 others(32): Show c.-627_-626insCCGACTGCGGTTTTGCTTCAAGG	PLPP6	ENSG00000205808.7	transcript	ENST00000381883.5	protein_coding		544		chr9	TogoVar
PLPPR1_chr9_101023727_101330135	101054353	T T	TTCAATTC others(16): Show TTCAATTCACCAGATAATTTTTCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp2 HG00639.hp1 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0050 a0001c0001t0001g0051	2	202	0.0099	23	c.-46 others(42): Show c.-46+25252_-46+25274dupTCAATTCACCAGATAATTTTTCA	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR5_chr1_98885245_99009861	98920593	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp2 HG01081.hp1 others(9): Show HG00544.hp1 HG00735.hp2 HG01081.hp1 HG01106.hp2 HG01884.hp2 HG02976.hp2 HG03491.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG04199.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0015 a0001c0001t0016 others(4): Show a0001c0001t0006 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0029 a0001c0001t0033 a0001c0002t0006	a0001c0001t0006g0071 a0001c0001t0006g0104 a0001c0001t0006g0134 others(9): Show a0001c0001t0006g0071 a0001c0001t0006g0104 a0001c0001t0006g0134 a0001c0001t0006g0161 a0001c0001t0006g0165 a0001c0001t0006g0167 a0001c0001t0015g0196 a0001c0001t0016g0253 a0001c0001t0019g0160 a0001c0001t0029g0057 a0001c0001t0033g0270 a0001c0002t0006g0124	12	95	0.1263	23	c.798 others(40): Show c.798+1288_798+1289insTTTTTTTTTTTTTTTTTTTTTTT	PLPPR5	ENSG00000117598.14	transcript	ENST00000263177.5	protein_coding	4/5			chr1	TogoVar
PLRG1_chr4_154530005_154555400	154533394	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0017 a0001c0003t0011g0017	1	226	0.0044	23	c.32 others(34): Show c.3290_*3291insATATATATATATATTTTTTTTTT	PLRG1	ENSG00000171566.12	transcript	ENST00000499023.7	protein_coding		1610		chr4	TogoVar
PLSCR2_chr3_146428288_146474561	146467944	A A	ATGAGGAT others(16): Show ATGAGGATGGAAAGGTGCACAAGG	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	362	0.0028	23	c.-18 others(42): Show c.-180+1528_-180+1550dupCCTTGTGCACCTTTCCATCCTCA	PLSCR2	ENSG00000163746.13	transcript	ENST00000696113.1	protein_coding	1/7			chr3	TogoVar
PLSCR4_chr3_146187335_146256105	146191704	T T	TATATATA others(16): Show TATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0157 a0003c0003t0010g0157	1	278	0.0036	23	c.27 others(34): Show c.2706_*2707insTATATATATATATATATATATAT	PLSCR4	ENSG00000114698.15	transcript	ENST00000354952.7	protein_coding		630		chr3	TogoVar
PLSCR4_chr3_146187335_146256105	146191704	T T	TTTATATA others(16): Show TTTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0016 a0003c0003t0006g0016	1	278	0.0036	23	c.27 others(34): Show c.2706_*2707insTATATATATATATATATATATAA	PLSCR4	ENSG00000114698.15	transcript	ENST00000354952.7	protein_coding		630		chr3	TogoVar
PLSCR5_chr3_146580837_146610346	146584299	A A	AATGTGTG others(16): Show AATGTGTGGGTTTGGAGGATTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	23	c.16 others(34): Show c.1687_*1688insCCCAATCCTCCAAACCCACACAT	PLSCR5	ENSG00000231213.7	transcript	ENST00000443512.2	protein_coding		1537		chr3	TogoVar
PLVAP_chr19_17346455_17382342	17382272	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	405	0.0025	23	c.-49 others(34): Show c.-4985_-4984insCTTTCTTTCTTTCTTTCTTTCTT	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4931		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382276	A A	AAAAGAAG others(16): Show AAAAGAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	164	0.0061	23	c.-49 others(34): Show c.-4989_-4988insCTTTCTTTCTTTCTTTCTTCTTT	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4935		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382276	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00738.hp1 HG01069.hp1 others(21): Show HG00558.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG02451.hp1 HG02523.hp2 HG02738.hp2 HG03195.hp1 HG03516.hp2 HG03710.hp2 HG03942.hp1 HG04199.hp1 NA18943.hp2 NA18946.hp1 NA18965.hp2 NA18972.hp1 NA18984.hp2 NA20129.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0011 a0006c0010 a0001c0001 a0001c0011 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0001c0011t0001 a0006c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 others(18): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0249 a0001c0001t0001g0259 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0317 a0001c0001t0001g0359 a0001c0001t0001g0362 a0001c0001t0001g0374 a0001c0001t0001g0398 a0001c0001t0001g0402 a0001c0001t0002g0065 a0001c0001t0002g0083 a0001c0001t0003g0360 a0001c0001t0005g0383 a0001c0001t0007g0275 a0001c0001t0015g0293 a0001c0011t0001g0411 a0006c0010t0001g0285	24	187	0.1283	23	c.-49 others(34): Show c.-4989_-4988insCTTTCTTTCTTTCTTTCTTTCTT	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4935		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382305	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	433	0.0023	23	c.-50 others(34): Show c.-5018_-5017insCTTTCTTTCTTTCTTTCTTTCTT	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4964		chr19	TogoVar
PLXDC2_chr10_19811432_20294856	19883884	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01884.hp1 HG02630.hp1 others(2): Show HG00642.hp1 HG01884.hp1 HG02630.hp1 HG03195.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0027 a0001c0001t0061 others(2): Show a0001c0001t0004 a0001c0001t0027 a0001c0001t0061 a0001c0001t0072 a0002c0002t0002	a0001c0001t0004g0107 a0001c0001t0027g0156 a0001c0001t0061g0030 others(2): Show a0001c0001t0004g0107 a0001c0001t0027g0156 a0001c0001t0061g0030 a0001c0001t0072g0062 a0002c0002t0002g0165	5	19	0.2632	23	c.112 others(42): Show c.112+66698_112+66720dupTTTTTTTTTTTTTTTTTTTTTTT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20072544	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02145.hp2 HG02572.hp1 others(4): Show HG01516.hp1 HG02145.hp2 HG02572.hp1 HG02922.hp2 HG03139.hp1 NA19085.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0021 others(4): Show a0001c0001t0004 a0001c0001t0010 a0001c0001t0021 a0001c0001t0059 a0001c0001t0068 a0001c0001t0086 a0001c0001t0125	a0001c0001t0004g0140 a0001c0001t0010g0131 a0001c0001t0021g0101 others(4): Show a0001c0001t0004g0140 a0001c0001t0010g0131 a0001c0001t0021g0101 a0001c0001t0059g0148 a0001c0001t0068g0173 a0001c0001t0086g0097 a0001c0001t0125g0055	7	97	0.0722	23	c.541 others(40): Show c.541+4315_541+4316insGAAAGAAAGAAAGAAGAAAGAAA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA2_chr1_208017242_208249384	208168723	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0006 a0005c0007t0006	a0005c0007t0006g0118 a0005c0007t0006g0118	1	191	0.0052	23	c.137 others(44): Show c.1372-26261_1372-26260insAAAAAAAAAAAAAAAAAAAAAAA	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31			chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132132415	C C	CTGTTCTG others(16): Show CTGTTCTGTTCTGTTCTGTTCTGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0005 a0001c0038t0005	a0001c0038t0005g0011 a0001c0038t0005g0011	1	84	0.0119	23	c.558 others(40): Show c.5589+611_5589+633dupACAGAACAGAACAGAACAGAACA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	31/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132188994	G G	GAGAGGAG others(16): Show GAGAGGAGAGGAGAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0023 a0001c0009t0010g0023	1	86	0.0116	23	c.285 others(42): Show c.2857-1388_2857-1387insTTTCCTTTCCTCTCCTCTCCTCT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	14/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132322184	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0029 a0001c0007t0004g0029	1	15	0.0667	23	c.137 others(44): Show c.1372-23963_1372-23962insAAAAAAAAAAAAAAAAAAAAAAA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	3/31			chr7	TogoVar
PLXNB2_chr22_50269979_50312646	50307781	A A	AGGGGGAG others(16): Show AGGGGGAGGGGGAAGAGGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0092 a0004c0004t0002g0092	1	261	0.0038	23	c.-30 others(32): Show c.-303_-302insCTCCCCCCTCTTCCCCCTCCCCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		136		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594378	T T	TGGGGGGG others(16): Show TGGGGGGGGTGGGGGAGGCGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	296	0.0034	23	c.-45 others(34): Show c.-4574_-4573insCCACCGCCTCCCCCACCCCCCCC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4539		chr22	TogoVar
PMM2_chr16_8792839_8854325	8851977	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG02735.hp2 others(3): Show HG00423.hp1 HG00621.hp2 HG02735.hp2 NA18964.hp1 NA19057.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0221 a0001c0001t0002g0228 others(3): Show a0001c0001t0002g0095 a0001c0001t0002g0221 a0001c0001t0002g0228 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0287	6	68	0.0882	23	c.41 others(34): Show c.4152_*4153insTTTTTTTTTTTTTTTTTTTTTTT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding		2653		chr16	TogoVar
PMS2_chr7_5965925_6014049	6009968	A A	ATATACAT others(16): Show ATATACATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0014 a0001c0003t0013g0014	1	364	0.0027	23	c.-95 others(32): Show c.-950_-949insATATATATATATATATATGTATA	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		920		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAATAT others(16): Show AAAAATATACATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG03209.hp2 HG02965.hp2 HG03209.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0338 a0001c0008t0007g0362 a0001c0008t0007g0338 a0001c0008t0007g0362	2	46	0.0435	23	c.-95 others(32): Show c.-956_-955insATATATATATATATGTATATTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 NA18998.hp1 HG02897.hp1 NA18998.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0013 a0002c0002 a0008c0013	a0002c0002t0002 a0008c0013t0001 a0002c0002t0002 a0008c0013t0001	a0002c0002t0002g0200 a0008c0013t0001g0113 a0002c0002t0002g0200 a0008c0013t0001g0113	2	46	0.0435	23	c.-95 others(32): Show c.-956_-955insATATATATATATATATATATTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PNMA2_chr8_26499701_26518872	26515184	C C	CCCGAGCT others(16): Show CCCGAGCTCCGAGGCCAGGACCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	414	0.0024	23	c.-20 others(34): Show c.-2010_-1988dupATGGTCCTGGCCTCGGAGCTCGG	PNMA2	ENSG00000240694.9	transcript	ENST00000522362.7	protein_coding		1313		chr8	TogoVar
PNMA6E_chrX_153390639_153406350	153391576	A A	ACACACAC others(16): Show ACACACACCACACACCATGCACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	339	0.0029	23	c.53 others(34): Show c.5329_*5330insGTGTGCATGGTGTGTGGTGTGTG	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding		4062		chrX	TogoVar
PNMA8A_chr19_46461503_46476563	46473260	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01099.hp2 HG01106.hp2 others(1): Show HG00280.hp2 HG01099.hp2 HG01106.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0007 a0001c0002t0007g0007	4	354	0.0113	23	c.-20 others(34): Show c.-2004_-2003insAAAAAAAAAAAAAAAAAAAAAAA	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding		1698		chr19	TogoVar
PNMA8A_chr19_46461503_46476563	46475170	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02896.hp1 HG02897.hp1 HG02129.hp1 HG02896.hp1 HG02897.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0017 a0001c0002 a0005c0017	a0001c0002t0023 a0005c0017t0007 a0001c0002t0023 a0005c0017t0007	a0001c0002t0023g0027 a0005c0017t0007g0035 a0001c0002t0023g0027 a0005c0017t0007g0035	3	26	0.1154	23	c.-39 others(34): Show c.-3914_-3913insTTTTTTTTTTTTTTTTTTTTTTT	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding		3608		chr19	TogoVar
PNOC_chr8_28312268_28348351	28330398	T T	TTTATTTT others(16): Show TTTATTTTATTTTTTTTATTTTTA	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA20300.hp2 HG02486.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0244 a0001c0001t0001g0247	2	421	0.0048	23	c.126 others(40): Show c.126+1117_126+1118insATTTTATTTTTTTTATTTTTATT	PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PNPLA1_chr6_36265060_36318955	36273728	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG06807.hp1 HG02735.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0062 a0001c0001t0011g0061 a0001c0001t0001g0062 a0001c0001t0011g0061	2	38	0.0526	23	c.205 others(40): Show c.205+3066_205+3088dupAAAAAAAAAAAAAAAAAAAAAAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282062	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0348 a0001c0001t0002g0348	1	384	0.0026	23	c.206 others(40): Show c.206-9255_206-9233dupGAAAGAAAGAAAGAAAGAAAGAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282088	A A	AGAAAGAA others(16): Show AGAAAGAAAGAAAGAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19079.hp2 HG03041.hp1 NA19079.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0006c0009 a0001c0003 a0006c0009	a0001c0003t0005 a0006c0009t0004 a0001c0003t0005 a0006c0009t0004	a0001c0003t0005g0271 a0006c0009t0004g0270 a0001c0003t0005g0271 a0006c0009t0004g0270	2	288	0.0069	23	c.206 others(40): Show c.206-9229_206-9228insAGAAAGAAAGAAGAAGGAAGGAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282090	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0003 a0014c0020t0003	a0014c0020t0003g0110 a0014c0020t0003g0110	1	381	0.0026	23	c.206 others(40): Show c.206-9229_206-9228insAGAAAGAAAGAAAGAAAGAAAGA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282094	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0220 a0002c0002t0001g0220	1	380	0.0026	23	c.206 others(40): Show c.206-9225_206-9224insAGAAAGAAAGAAAGAAAGAAAGA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA7_chr9_137454952_137555402	137504003	A A	AAGGAAGA others(16): Show AAGGAAGAAGAAGAAGGAAGAATG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0053 a0005c0053	a0005c0053t0001 a0005c0053t0001	a0005c0053t0001g0132 a0005c0053t0001g0132	1	185	0.0054	23	c.147 others(42): Show c.1473+1610_1473+1611insCATTCTTCCTTCTTCTTCTTCCT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA8_chr7_108465417_108531135	108482769	T T	TTAAGATC others(16): Show TTAAGATCCAAAAAAAAGCAGTAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	388	0.0026	23	c.187 others(42): Show c.1879-3391_1879-3390insTTACTGCTTTTTTTTGGATCTTA	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	9/10			chr7	TogoVar
PNPT1_chr2_55629061_55698844	55695278	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 NA21309.hp2 HG02717.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0132 a0001c0001t0008g0160 a0001c0001t0008g0132 a0001c0001t0008g0160	2	150	0.0133	23	c.-14 others(34): Show c.-1456_-1455insTTTTTTTTTTTTTTTTTTTTTTT	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding		1435		chr2	TogoVar
PODXL_chr7_131495271_131561628	131524408	A A	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0362 a0005c0004t0001g0362	1	421	0.0024	23	c.101 others(42): Show c.101-12976_101-12975insCTCTCTCTCTCTCTCTCTCTCTC	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
POF1B_chrX_85272396_85384665	85360567	A A	ATATATAT others(16): Show ATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG04228.hp1 HG02071.hp1 HG04228.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0002 a0006c0011t0001 a0001c0001t0002 a0006c0011t0001	a0001c0001t0002g0023 a0006c0011t0001g0022 a0001c0001t0002g0023 a0006c0011t0001g0022	2	189	0.0106	23	c.358 others(38): Show c.358-938_358-937insGTGTGTATATATATATATATATA	POF1B	ENSG00000124429.18	transcript	ENST00000262753.9	protein_coding	3/16			chrX	TogoVar
POFUT1_chr20_32202880_32243658	32242834	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0024 a0001c0003t0006g0024	1	270	0.0037	23	c.81 others(34): Show c.8173_*8174insTATATATATATATATATATATAT	POFUT1	ENSG00000101346.15	transcript	ENST00000375749.8	protein_coding		4177		chr20	TogoVar
POLA1_chrX_24688918_25001986	24757436	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03579.hp1 HG03098.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0150 a0001c0001t0002g0154	2	20	0.1000	23	c.296 others(42): Show c.2964+8465_2964+8466insTTTTTTTTTTTTTTTTTTTTTTT	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLA1_chrX_24688918_25001986	24806053	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	5	0.2000	23	c.296 others(42): Show c.2965-3811_2965-3789dupTTTTTTTTTTTTTTTTTTTTTTT	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLA2_chr11_65256962_65303685	65294104	A A	AACTGCAC others(16): Show AACTGCACTCACTTTTCTCACTCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG02630.hp2 others(3): Show HG01243.hp2 HG02258.hp2 HG02630.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0047 a0001c0001t0001g0092 others(2): Show a0001c0001t0001g0024 a0001c0001t0001g0047 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0146	6	282	0.0213	23	c.124 others(38): Show c.1245-48_1245-26dupACTGCACTCACTTTTCTCACTCT	POLA2	ENSG00000014138.10	transcript	ENST00000265465.8	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
POLB_chr8_42333494_42376808	42343345	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	152	0.0066	23	c.120 others(40): Show c.120-1607_120-1606insATATATATATATATATATATATA	POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
POLDIP2_chr17_28341633_28362527	28353520	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	72	0.0139	23	c.438 others(38): Show c.438+174_438+175insTTTTTTTTTTTTTTTTTTTTTTT	POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10			chr17	TogoVar
POLQ_chr3_121426431_121550988	121522284	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0173 a0003c0002t0001g0173	1	37	0.0270	23	c.110 others(40): Show c.1109-158_1109-136dupAAAAAAAAAAAAAAAAAAAAAAA	POLQ	ENSG00000051341.15	transcript	ENST00000264233.6	protein_coding	7/29			chr3	TogoVar
POLR2D_chr2_127838553_127863155	127856290	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19084.hp1 NA19067.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0235 a0001c0001t0004g0234 a0001c0001t0001g0235 a0001c0001t0004g0234	2	6	0.3333	23	c.73+ others(38): Show c.73+1737_73+1738insTTTTTTTTTTTTTTTTTTTTTTT	POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	1/3			chr2	TogoVar
POLR3C_chr1_145819200_145849402	145842809	A A	AGATAGAT others(16): Show AGATAGATAGATAGATAGATAGAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02809.hp1 HG01884.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0035 a0001c0001t0029 a0001c0001t0035	a0001c0001t0029g0008 a0001c0001t0035g0049 a0001c0001t0029g0008 a0001c0001t0035g0049	2	348	0.0057	23	c.39 others(32): Show c.397_*398insGATAGATAGATAGATGATAGATA	POLR3C	ENSG00000186141.10	transcript	ENST00000334163.4	protein_coding	15/15	398	INFO_REALIGN_3_PRIME	chr1	TogoVar
POLR3E_chr16_22292409_22340096	22303639	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02145.hp2 NA18522.hp1 others(1): Show HG01934.hp2 HG02145.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0315 others(1): Show a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0315 a0001c0001t0007g0309	4	245	0.0163	23	c.36+ others(36): Show c.36+653_36+654insTTTTTTTTTTTTTTTTTTTTTTT	POLR3E	ENSG00000058600.16	transcript	ENST00000299853.10	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr16	TogoVar

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