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
PHF12_chr17_28900250_28956518	28923653	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG03139.hp1 HG03225.hp1 others(1): Show HG00733.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0110 others(1): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0110 a0001c0001t0001g0146	4	66	0.0606	17	c.715 others(32): Show c.715+239_715+255dupTTTTTTTTTTTTTTTTT	PHF12	ENSG00000109118.14	transcript	ENST00000332830.9	protein_coding	4/14			chr17	TogoVar
PHF19_chr9_120850651_120882188	120872037	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0289 a0001c0001t0003g0289	1	107	0.0093	17	c.269 others(34): Show c.269-1516_269-1500dupTTTTTTTTTTTTTTTTT	PHF19	ENSG00000119403.15	transcript	ENST00000373896.8	protein_coding	3/14			chr9	TogoVar
PHF19_chr9_120850651_120882188	120872037	C C	CAAAAAAA others(10): Show CAAAAAAAAAGAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0061 a0001c0001t0004g0061	1	107	0.0093	17	c.269 others(34): Show c.269-1500_269-1499insTTTTTTTCTTTTTTTTT	PHF19	ENSG00000119403.15	transcript	ENST00000373896.8	protein_coding	3/14			chr9	TogoVar
PHF20_chr20_35767015_35955370	35773449	T T	TTTTCTCT others(10): Show TTTTCTCTGTGCTTCTGC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0093 a0001c0001t0005g0093	1	204	0.0049	17	c.-33 others(34): Show c.-33+1371_-33+1387dupTTTCTCTGTGCTTCTGC	PHF20	ENSG00000025293.17	transcript	ENST00000374012.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHF20_chr20_35767015_35955370	35793995	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00642.hp2 others(18): Show HG00408.hp2 HG00597.hp2 HG00642.hp2 HG01069.hp1 HG01109.hp1 HG01175.hp1 HG01192.hp2 HG01433.hp1 HG01952.hp1 HG02015.hp1 HG02258.hp2 HG02293.hp2 HG03139.hp2 NA18945.hp1 NA18979.hp2 NA19058.hp1 NA19064.hp1 NA19077.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0002c0002t0003 others(3): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0003 a0002c0002t0008 a0002c0002t0016 a0002c0002t0017	a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0004g0125 others(18): Show a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0004g0125 a0002c0002t0003g0114 a0002c0002t0003g0124 a0002c0002t0003g0126 a0002c0002t0003g0132 a0002c0002t0003g0135 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0141 a0002c0002t0003g0142 a0002c0002t0003g0143 a0002c0002t0003g0145 a0002c0002t0008g0113 a0002c0002t0008g0121 a0002c0002t0008g0123 a0002c0002t0008g0140 a0002c0002t0008g0147 a0002c0002t0016g0120 a0002c0002t0017g0127	21	108	0.1944	17	c.-32 others(34): Show c.-32-7490_-32-7474dupAAAAAAAAAAAAAAAAA	PHF20	ENSG00000025293.17	transcript	ENST00000374012.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHF20_chr20_35767015_35955370	35793995	C C	CAAAACAA others(10): Show CAAAACAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0122 a0002c0002t0003g0122	1	88	0.0114	17	c.-32 others(34): Show c.-32-7492_-32-7491insCAAAAAAAAAAAAAAAA	PHF20	ENSG00000025293.17	transcript	ENST00000374012.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHF21A_chr11_45924319_46126454	45958419	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02602.hp2 HG02683.hp1 HG02129.hp2 HG02602.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009	a0001c0001t0002g0090 a0001c0001t0006g0125 a0001c0001t0009g0082 a0001c0001t0002g0090 a0001c0001t0006g0125 a0001c0001t0009g0082	3	102	0.0294	17	c.997 others(34): Show c.997-4795_997-4794insATATTTTTTTTTTTTTT	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	10/18			chr11	TogoVar
PHF21A_chr11_45924319_46126454	45958419	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01109.hp2 HG02818.hp2 others(4): Show HG00408.hp2 HG01109.hp2 HG02818.hp2 HG03098.hp2 HG04204.hp2 NA18943.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0068	a0001c0001t0003g0120 a0001c0001t0003g0132 a0001c0001t0003g0133 others(4): Show a0001c0001t0003g0120 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0004g0101 a0001c0001t0004g0106 a0001c0001t0009g0084 a0001c0001t0068g0273	7	106	0.0660	17	c.997 others(34): Show c.997-4795_997-4794insATATATTTTTTTTTTTT	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	10/18			chr11	TogoVar
PHF21A_chr11_45924319_46126454	45958419	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 NA18962.hp1 HG01516.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0003 a0001c0001t0017	a0001c0001t0003g0226 a0001c0001t0017g0035 a0001c0001t0003g0226 a0001c0001t0017g0035	2	101	0.0198	17	c.997 others(34): Show c.997-4795_997-4794insATATATATTTTTTTTTT	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	10/18			chr11	TogoVar
PHF21A_chr11_45924319_46126454	45958419	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	100	0.0100	17	c.997 others(34): Show c.997-4795_997-4794insATATATATATTTTTTTT	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	10/18			chr11	TogoVar
PHF21A_chr11_45924319_46126454	45958419	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	100	0.0100	17	c.997 others(34): Show c.997-4795_997-4794insATATATATATATTTTTT	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	10/18			chr11	TogoVar
PHF21A_chr11_45924319_46126454	45971886	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	1	276	0.0036	17	c.361 others(32): Show c.361-520_361-519insAAAAAAAAAGAAAGAAA	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	7/18			chr11	TogoVar
PHF21A_chr11_45924319_46126454	45986084	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0239 a0001c0001t0020g0239	1	32	0.0313	17	c.154 others(34): Show c.154-6119_154-6118insGTGTGTGTGTGTGTGTG	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	6/18			chr11	TogoVar
PHF21B_chr22_44876162_45015005	44912878	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0255 a0001c0006t0003g0255	1	34	0.0294	17	c.831 others(32): Show c.831+927_831+943dupTTTTTTTTTTTTTTTTT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	5/12			chr22	TogoVar
PHF21B_chr22_44876162_45015005	44952943	G G	GCTGGGCT others(10): Show GCTGGGCTGCCCTGTGCC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02572.hp2 HG02622.hp2 others(3): Show HG01934.hp2 HG02572.hp2 HG02622.hp2 HG03098.hp1 NA19240.hp2 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0001c0006 a0008c0013 a0001c0002 a0001c0006 a0008c0013	a0001c0002t0006 a0001c0002t0009 a0001c0002t0016 others(2): Show a0001c0002t0006 a0001c0002t0009 a0001c0002t0016 a0001c0006t0017 a0008c0013t0015	a0001c0002t0006g0237 a0001c0002t0009g0005 a0001c0002t0009g0022 others(3): Show a0001c0002t0006g0237 a0001c0002t0009g0005 a0001c0002t0009g0022 a0001c0002t0016g0003 a0001c0006t0017g0025 a0008c0013t0015g0006	6	298	0.0201	17	c.121 others(36): Show c.121-32470_121-32454dupGGCACAGGGCAGCCCAG	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PHF23_chr17_7230038_7244457	7233087	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	168	0.0179	17	c.25 others(28): Show c.2522_*2538dupTTTTTTTTTTTTTTTTT	PHF23	ENSG00000040633.13	transcript	ENST00000320316.8	protein_coding		1950		chr17	TogoVar
PHF2_chr9_93571584_93684587	93627492	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG01243.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0288 a0001c0001t0001g0274 a0001c0001t0001g0288	2	28	0.0714	17	c.99- others(32): Show c.99-2462_99-2461insTTTTTTTTTTTTTTTTT	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PHF3_chr6_63630802_63731011	63687644	T T	TAGTAAGT others(10): Show TAGTAAGTTATAATGTAA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0003 a0001c0012t0003	a0001c0012t0003g0262 a0001c0012t0003g0262	1	318	0.0031	17	c.218 others(36): Show c.2189+1734_2189+1750dupAGTAAGTTATAATGTAA	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHF3_chr6_63630802_63731011	63727733	A A	ATATATAT others(10): Show ATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	278	0.0036	17	c.14 others(30): Show c.14025_*14026insTATATATATATATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1723		chr6	TogoVar
PHF3_chr6_63630802_63731011	63727735	A A	ATATATAT others(10): Show ATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01069.hp1 HG01071.hp1 others(8): Show HG00423.hp2 HG01069.hp1 HG01071.hp1 HG01169.hp1 HG03041.hp1 HG03710.hp2 NA18942.hp2 NA18951.hp2 NA18978.hp2 NA19085.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0035 a0003c0003t0019	a0001c0001t0002g0057 a0001c0001t0002g0085 a0001c0001t0003g0219 others(8): Show a0001c0001t0002g0057 a0001c0001t0002g0085 a0001c0001t0003g0219 a0001c0001t0005g0041 a0001c0001t0005g0060 a0001c0001t0006g0001 a0001c0001t0006g0181 a0001c0001t0010g0008 a0001c0001t0035g0018 a0003c0003t0019g0043 a0003c0003t0019g0081	11	230	0.0478	17	c.14 others(30): Show c.14027_*14028insTATATATATATATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1725		chr6	TogoVar
PHF3_chr6_63630802_63731011	63727737	A A	AAATATAT others(10): Show AAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02572.hp1 HG02922.hp2 others(3): Show HG02109.hp2 HG02572.hp1 HG02922.hp2 HG02976.hp2 NA18943.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0015 a0001c0001t0068 others(1): Show a0001c0001t0009 a0001c0001t0015 a0001c0001t0068 a0001c0001t0069	a0001c0001t0009g0217 a0001c0001t0015g0002 a0001c0001t0015g0100 others(3): Show a0001c0001t0009g0217 a0001c0001t0015g0002 a0001c0001t0015g0100 a0001c0001t0015g0101 a0001c0001t0068g0105 a0001c0001t0069g0002	6	85	0.0706	17	c.14 others(30): Show c.14029_*14030insAATATATATATATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1727		chr6	TogoVar
PHF3_chr6_63630802_63731011	63727737	A A	ATATATAT others(10): Show ATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01943.hp1 HG02074.hp2 others(7): Show HG00544.hp2 HG01943.hp1 HG02074.hp2 HG02897.hp1 HG03209.hp2 HG03492.hp1 HG03704.hp1 NA18955.hp2 NA18969.hp1 NA18975.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0014 a0001c0001t0037 a0001c0001t0065 a0003c0003t0019	a0001c0001t0002g0044 a0001c0001t0002g0083 a0001c0001t0002g0093 others(7): Show a0001c0001t0002g0044 a0001c0001t0002g0083 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0005g0048 a0001c0001t0012g0020 a0001c0001t0014g0084 a0001c0001t0037g0231 a0001c0001t0065g0022 a0003c0003t0019g0059	10	89	0.1124	17	c.14 others(30): Show c.14029_*14030insTATATATATATATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1727		chr6	TogoVar
PHF6_chrX_134368312_134433790	134406113	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	279	0.0036	17	c.419 others(34): Show c.419-7378_419-7377insCTTTCTTTCTTTCTTTC	PHF6	ENSG00000156531.18	transcript	ENST00000370803.8	protein_coding	5/10			chrX	TogoVar
PHF8_chrX_53931680_54049473	54009844	G G	GGAAAAAA others(10): Show GGAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	64	0.0156	17	c.946 others(34): Show c.946+1277_946+1278insTTTTTTTTTTTTTTTTC	PHF8	ENSG00000172943.21	transcript	ENST00000338154.11	protein_coding	8/21			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72712209	C C	CTTAAAAG others(10): Show CTTAAAAGTTGGCTTAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	235	0.0043	17	c.237 others(32): Show c.237+553_237+569dupTTTAAGCCAACTTTTAA	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	2/31			chrX	TogoVar
PHLDB2_chr3_111854265_111981517	111866014	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA19054.hp2 HG01074.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0159 a0001c0001t0005g0160 a0001c0001t0004g0159 a0001c0001t0005g0160	2	28	0.0714	17	c.-15 others(34): Show c.-15+6446_-15+6462dupTTTTTTTTTTTTTTTTT	PHLDB2	ENSG00000144824.21	transcript	ENST00000431670.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PHLDB2_chr3_111854265_111981517	111866930	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0171 a0001c0001t0004g0171	1	66	0.0152	17	c.-15 others(34): Show c.-15+7354_-15+7355insTGTGTGTGTGTGTGTGT	PHLDB2	ENSG00000144824.21	transcript	ENST00000431670.7	protein_coding	1/17			chr3	TogoVar
PHLDB3_chr19_43470103_43509746	43487574	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00733.hp2 HG01978.hp2 others(5): Show HG00423.hp1 HG00733.hp2 HG01978.hp2 HG02165.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0295 a0001c0001t0001g0299 others(5): Show a0001c0001t0001g0219 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0312 a0001c0001t0001g0316 a0001c0001t0001g0334 a0001c0001t0001g0343 a0001c0001t0001g0344	8	222	0.0360	17	c.115 others(34): Show c.1150-468_1150-452dupTTTTTTTTTTTTTTTTT	PHLDB3	ENSG00000176531.11	transcript	ENST00000292140.10	protein_coding	9/15			chr19	TogoVar
PHLPP1_chr18_62710541_62985433	62766074	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	179	0.0056	17	c.157 others(38): Show c.1576+48815_1576+48816insTATATATATATATATAT	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16			chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0075 a0001c0001t0005g0075	1	22	0.0455	17	c.157 others(38): Show c.1576+48818_1576+48819insAAAAAAAAAAAAAAATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	22	0.0455	17	c.157 others(38): Show c.1576+48818_1576+48819insAAAAATATATATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18945.hp2 HG02071.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0002t0001g0154 a0001c0001t0001g0002 a0001c0002t0001g0154	2	23	0.0870	17	c.157 others(38): Show c.1576+48818_1576+48819insATATATATATATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp2 HG02970.hp1 HG02572.hp1 HG02723.hp2 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0139 a0001c0002t0001g0167 a0001c0005t0001g0189 a0001c0002t0001g0139 a0001c0002t0001g0167 a0001c0005t0001g0189	3	24	0.1250	17	c.157 others(38): Show c.1576+48817_1576+48818insTATATATATATATATAT	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16			chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62772830	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03471.hp1 NA18906.hp2 HG00735.hp1 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0011 a0001c0005t0001 a0001c0001t0011 a0001c0005t0001	a0001c0001t0011g0065 a0001c0005t0001g0187 a0001c0005t0001g0188 a0001c0001t0011g0065 a0001c0005t0001g0187 a0001c0005t0001g0188	3	123	0.0244	17	c.157 others(38): Show c.1576+55574_1576+55590dupAAAAAAAAAAAAAAAAA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62849826	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 NA20805.hp2 HG01167.hp1 HG01169.hp1 NA20805.hp2	a0003 a0013 a0003 a0013	a0003c0004 a0013c0023 a0003c0004 a0013c0023	a0003c0004t0008 a0013c0023t0008 a0003c0004t0008 a0013c0023t0008	a0003c0004t0008g0058 a0003c0004t0008g0059 a0013c0023t0008g0056 a0003c0004t0008g0058 a0003c0004t0008g0059 a0013c0023t0008g0056	3	163	0.0184	17	c.190 others(38): Show c.1900-10609_1900-10608insTATATATATATATATAT	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16			chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62849828	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0017 a0003c0004t0017	a0003c0004t0017g0057 a0003c0004t0017g0057	1	131	0.0076	17	c.190 others(38): Show c.1900-10607_1900-10606insTATATATATATATATAT	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16			chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62849832	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	11	0.0909	17	c.190 others(38): Show c.1900-10602_1900-10601insAAAAAAAAAAAAAAATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP2_chr16_71639924_71729701	71670695	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0196 a0001c0002t0002g0196	1	39	0.0256	17	c.153 others(36): Show c.1533-1326_1533-1325insGTGTGTGTGTGTGTGTG	PHLPP2	ENSG00000040199.18	transcript	ENST00000568954.5	protein_coding	10/18			chr16	TogoVar
PHLPP2_chr16_71639924_71729701	71719964	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01433.hp2 HG02280.hp2 others(11): Show HG00140.hp1 HG01433.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 a0001c0001t0018 a0001c0024t0005	a0001c0001t0001g0114 a0001c0001t0005g0121 a0001c0001t0005g0122 others(11): Show a0001c0001t0001g0114 a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0127 a0001c0001t0005g0128 a0001c0001t0005g0130 a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0005g0133 a0001c0001t0016g0123 a0001c0001t0018g0126 a0001c0024t0005g0129	14	20	0.7000	17	c.-7+ others(32): Show c.-7+4348_-7+4364dupAAAAAAAAAAAAAAAAA	PHLPP2	ENSG00000040199.18	transcript	ENST00000568954.5	protein_coding	1/18			chr16	TogoVar
PHOX2B_chr4_41739082_41753725	41742625	C C	CTTTCTTT others(10): Show CTTTCTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 NA18522.hp2 HG01167.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	2	226	0.0088	17	c.31 others(28): Show c.3181_*3182insAAAAAAAAAAAAAGAAA	PHOX2B	ENSG00000109132.7	transcript	ENST00000226382.4	protein_coding		1456		chr4	TogoVar
PHOX2B_chr4_41739082_41753725	41742625	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01081.hp2 HG01169.hp2 others(5): Show HG01070.hp1 HG01081.hp2 HG01169.hp2 HG01516.hp2 HG02895.hp2 HG03041.hp1 HG03669.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0003 a0001c0005t0003 a0001c0007t0004 a0001c0001t0003 a0001c0005t0003 a0001c0007t0004	a0001c0001t0003g0004 a0001c0001t0003g0030 a0001c0005t0003g0018 others(1): Show a0001c0001t0003g0004 a0001c0001t0003g0030 a0001c0005t0003g0018 a0001c0007t0004g0024	8	232	0.0345	17	c.31 others(28): Show c.3181_*3182insAAAAAAAAAAAAAAAAA	PHOX2B	ENSG00000109132.7	transcript	ENST00000226382.4	protein_coding		1456		chr4	TogoVar
PHPT1_chr9_136844409_136856024	136849706	G G	GCTGCGGG others(10): Show GCTGCGGGCCGTAGCGGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG01243.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	342	0.0058	17	c.160 others(32): Show c.160+122_160+138dupGGCCGTAGCGGACTGCG	PHPT1	ENSG00000054148.18	transcript	ENST00000247665.12	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr9	TogoVar
PHTF1_chr1_113691831_113764486	113701826	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp2 HG02602.hp1 HG00642.hp2 HG01243.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0165 a0001c0001t0001g0210 a0001c0001t0001g0212	3	97	0.0309	17	c.189 others(34): Show c.1891-894_1891-878dupTTTTTTTTTTTTTTTTT	PHTF1	ENSG00000116793.16	transcript	ENST00000369604.6	protein_coding	15/18			chr1	TogoVar
PHTF2_chr7_77793773_77962225	77925495	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02965.hp2 HG02886.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0182 a0001c0001t0001g0185	2	52	0.0385	17	c.101 others(36): Show c.1017+2732_1017+2748dupTTTTTTTTTTTTTTTTT	PHTF2	ENSG00000006576.17	transcript	ENST00000422959.8	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHTF2_chr7_77793773_77962225	77947826	C C	CTTTCTTT others(10): Show CTTTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0305 a0001c0001t0003g0305	1	309	0.0032	17	c.185 others(36): Show c.1858-1849_1858-1848insCTTTTTTTTTTTTTTTT	PHTF2	ENSG00000006576.17	transcript	ENST00000422959.8	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHYHIPL_chr10_59171643_59252770	59180328	A A	ATATATAT others(10): Show ATATATATATAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG01884.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0072 a0001c0001t0001g0073	2	197	0.0102	17	c.106 others(34): Show c.106+3379_106+3380insGAAAAAGTATATATATA	PHYHIPL	ENSG00000165443.12	transcript	ENST00000373880.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHYKPL_chr5_178203471_178237802	178203504	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0048	1	46	0.0217	17	c.54 others(28): Show c.5442_*5443insTTTTTTTTTTTTTTTTT	PHYKPL	ENSG00000175309.15	transcript	ENST00000308158.10	protein_coding		4966		chr5	TogoVar
PI4K2A_chr10_97635671_97681434	97642842	C C	CTCTTTCT others(10): Show CTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	242	0.0041	17	c.435 others(34): Show c.435+1665_435+1666insTCTTTCTTTCTTTCTTT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding	1/8			chr10	TogoVar
PI4K2A_chr10_97635671_97681434	97642924	C C	CCTTTCTT others(10): Show CCTTTCTTTCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02074.hp1 NA18612.hp2 others(2): Show HG01255.hp2 HG02074.hp1 NA18612.hp2 NA19065.hp2 NA19077.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0013 a0001c0003t0003g0092 a0001c0003t0003g0099 others(2): Show a0001c0003t0003g0013 a0001c0003t0003g0092 a0001c0003t0003g0099 a0001c0003t0003g0101 a0001c0003t0003g0102	5	275	0.0182	17	c.435 others(34): Show c.435+1756_435+1757insTTTCCTTTCTTTCTTTC	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PI4K2B_chr4_25229033_25284204	25265198	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0181 a0003c0004t0002g0181	1	87	0.0115	17	c.107 others(36): Show c.1078+1356_1078+1372dupAAAAAAAAAAAAAAAAA	PI4K2B	ENSG00000038210.14	transcript	ENST00000264864.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr4	TogoVar

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