Joint Open Genome and Omics Platform (JoGo)

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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
PAK4_chr19_39120786_39184404	39165195	G G	GATGATGA others(14): Show GATGATGATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0095 a0001c0001t0005g0095	1	368	0.0027	21	c.-95 others(38): Show c.-95-3033_-95-3032insGATGATAATAATAATAATAAT	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAK5_chr20_9532370_9844076	9665085	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03453.hp2 HG00639.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0007 a0002c0001t0005 a0001c0002t0007 a0002c0001t0005	a0001c0002t0007g0009 a0002c0001t0005g0007 a0001c0002t0007g0009 a0002c0001t0005g0007	2	208	0.0096	21	c.-11 others(40): Show c.-11-20747_-11-20746insAAAAAAAAAAAAAAAAAAAAA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	2/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9807762	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG04228.hp2 NA20300.hp2 HG02970.hp2 HG04228.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0001 a0001c0002 a0001c0006 a0002c0001	a0001c0002t0007 a0001c0006t0003 a0002c0001t0001 a0001c0002t0007 a0001c0006t0003 a0002c0001t0001	a0001c0002t0007g0111 a0001c0006t0003g0147 a0002c0001t0001g0187 a0001c0002t0007g0111 a0001c0006t0003g0147 a0002c0001t0001g0187	3	208	0.0144	21	c.-16 others(42): Show c.-162+30979_-162+30999dupATTATTATTATTATTATTATT	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK6_chr15_40234063_40282487	40275280	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01346.hp2 NA18966.hp2 HG01255.hp1 HG01346.hp2 NA18966.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0026 a0001c0001t0075 a0003c0004t0006 a0001c0001t0026 a0001c0001t0075 a0003c0004t0006	a0001c0001t0026g0303 a0001c0001t0075g0397 a0003c0004t0006g0183 a0001c0001t0026g0303 a0001c0001t0075g0397 a0003c0004t0006g0183	3	426	0.0070	21	c.187 others(38): Show c.1879-645_1879-625dupTTTTTTTTTTTTTTTTTTTTT	PAK6	ENSG00000137843.12	transcript	ENST00000560346.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
PALB2_chr16_23598165_23646310	23645137	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA19088.hp1 NA18992.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0001t0001g0166 a0001c0001t0001g0174	2	326	0.0061	21	c.-39 others(32): Show c.-3981_-3980insAAAAAAAAAAATATATATATA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3828		chr16	TogoVar
PALD1_chr10_70473767_70573450	70529208	G G	GCCCCCCC others(14): Show GCCCCCCCCCCCCCCCCCCCCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02723.hp2 HG02723.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0014 a0005c0015t0014	a0005c0015t0014g0249 a0005c0015t0014g0249	1	308	0.0033	21	c.186 others(32): Show c.186-3_186-2insCCCCCCCCCCCCCCCCCCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168759202	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	156	0.0064	21	c.196 others(42): Show c.1964+47280_1964+47281insAAAAAAAAAAATATATATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168793366	C C	CATATATA others(14): Show CATATATATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0028 a0002c0003t0001g0028	1	156	0.0064	21	c.196 others(42): Show c.1964+81451_1964+81452insACATATATATGTGATATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110011012	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0070 a0003c0003t0005g0070	1	222	0.0045	21	c.497 others(38): Show c.497-4942_497-4941insTATATATATATATATATATAT	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10			chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110098153	A A	AAGAGAGG others(14): Show AAGAGAGGAGAGGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0195 a0011c0016t0001g0195	1	222	0.0045	21	c.583 others(40): Show c.583-37970_583-37969insAGGAGAGGGGAGAGGGGAGAG	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALMD_chr1_99641113_99699535	99652740	G G	GAAAAGAA others(14): Show GAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02698.hp2 HG00423.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0181 a0001c0001t0001g0183	2	380	0.0053	21	c.45+ others(36): Show c.45+6381_45+6382insAGAAAAGAAAAGAAAAGAAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALS1_chr14_67236435_67341061	67284429	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01123.hp1 HG01934.hp1 others(13): Show HG00280.hp1 HG01123.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG02109.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02717.hp2 HG03041.hp1 HG03471.hp2 HG03654.hp2 NA18522.hp1 NA18993.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0003 a0001c0001t0007 a0001c0001t0021 others(2): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0021 a0001c0001t0022 a0003c0008t0003	a0001c0001t0003g0113 a0001c0001t0003g0118 a0001c0001t0003g0121 others(13): Show a0001c0001t0003g0113 a0001c0001t0003g0118 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0130 a0001c0001t0003g0133 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0007g0285 a0001c0001t0021g0120 a0001c0001t0022g0114 a0003c0008t0003g0129	16	290	0.0552	21	c.367 others(38): Show c.367+4907_367+4908insAAAAAAAAAAAAAAAAAAAAA	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALS2_chr7_24568452_24699193	24638322	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01261.hp2 HG02165.hp1 others(5): Show HG01175.hp1 HG01261.hp2 HG02165.hp1 HG06807.hp2 NA18948.hp1 NA18986.hp2 NA18998.hp1 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0012 a0001c0002t0019 others(5): Show a0001c0002t0007 a0001c0002t0012 a0001c0002t0019 a0001c0002t0045 a0001c0002t0061 a0001c0002t0066 a0001c0002t0071 a0001c0002t0073	a0001c0002t0007g0314 a0001c0002t0012g0359 a0001c0002t0019g0291 others(5): Show a0001c0002t0007g0314 a0001c0002t0012g0359 a0001c0002t0019g0291 a0001c0002t0045g0357 a0001c0002t0061g0317 a0001c0002t0066g0316 a0001c0002t0071g0286 a0001c0002t0073g0305	8	378	0.0212	21	c.118 others(38): Show c.118-3388_118-3368dupTTTTTTTTTTTTTTTTTTTTT	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
PAMR1_chr11_35426827_35530616	35474324	C C	CAGCCCAG others(14): Show CAGCCCAGTCCGAGTAAGTAGG	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	378	0.0027	21	c.494 others(36): Show c.494+285_494+305dupCCTACTTACTCGGACTGGGCT	PAMR1	ENSG00000149090.13	transcript	ENST00000619888.5	protein_coding	4/10			chr11	TogoVar
PAM_chr5_102750305_103034716	102795189	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0012	1	188	0.0053	21	c.-37 others(42): Show c.-374+39844_-374+39864dupAAAAAAAAAAAAAAAAAAAAA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PANK1_chr10_89577988_89650242	89595833	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0318 a0001c0002t0002g0318	1	366	0.0027	21	c.900 others(38): Show c.900-1845_900-1844insATATATATATATATATATATT	PANK1	ENSG00000152782.19	transcript	ENST00000307534.10	protein_coding	3/6			chr10	TogoVar
PANK3_chr5_168543495_168584368	168559157	T T	TCTAAAAG others(14): Show TCTAAAAGAAAAGAACAAAGAA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19067.hp2 NA19067.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0026 a0003c0007t0026	a0003c0007t0026g0248 a0003c0007t0026g0248	1	416	0.0024	21	c.937 others(33): Show c.937-21_937-1dupTTCTTTGTTCTTTTCTTTTAG	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	5/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02165.hp1 HG02257.hp1 others(2): Show HG02080.hp1 HG02165.hp1 HG02257.hp1 NA18948.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0100 a0001c0001t0007g0105 a0001c0001t0007g0106 others(2): Show a0001c0001t0007g0100 a0001c0001t0007g0105 a0001c0001t0007g0106 a0001c0001t0007g0108 a0001c0001t0007g0114	5	416	0.0120	21	c.635 others(36): Show c.635+144_635+145insATATTTTTTTTTTTTTTTTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02015.hp1 HG03688.hp1 others(1): Show HG00673.hp1 HG02015.hp1 HG03688.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0102 a0001c0001t0007g0103 a0001c0001t0007g0107 others(1): Show a0001c0001t0007g0102 a0001c0001t0007g0103 a0001c0001t0007g0107 a0001c0001t0007g0110	4	416	0.0096	21	c.635 others(36): Show c.635+144_635+145insATATATTTTTTTTTTTTTTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168569030	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0330 a0001c0001t0024g0330	1	416	0.0024	21	c.29- others(32): Show c.29-33_29-32insATATATATATATATATATTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	1/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168573416	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19005.hp1 NA18957.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0058 a0001c0001t0005g0059	2	416	0.0048	21	c.29- others(36): Show c.29-4439_29-4419dupTTTTTTTTTTTTTTTTTTTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	1/6			chr5	TogoVar
PAPLN_chr14_73232506_73279623	73258618	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02155.hp1 HG00738.hp1 HG02155.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0002 a0001c0004 a0003c0002	a0001c0004t0001 a0003c0002t0024 a0001c0004t0001 a0003c0002t0024	a0001c0004t0001g0056 a0003c0002t0024g0113 a0001c0004t0001g0056 a0003c0002t0024g0113	2	418	0.0048	21	c.162 others(38): Show c.1628-341_1628-340insAAAAAAAAAAAAAAAAAAAAA	PAPLN	ENSG00000100767.17	transcript	ENST00000644200.2	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAPOLA_chr14_96497382_96572116	96548341	T T	TAAAAAAT others(14): Show TAAAAAATGTAAAAAAATAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	310	0.0032	21	c.152 others(38): Show c.1521+425_1521+426insAAAATGTAAAAAAATAAAAAA	PAPOLA	ENSG00000090060.19	transcript	ENST00000216277.13	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAPPA2_chr1_176458175_176850601	176498751	C C	CACAAAAA others(14): Show CACAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0081 a0001c0001t0006g0081	1	118	0.0085	21	c.-91 others(42): Show c.-917+35334_-917+35335insCAAAAAAAAAAAAAAAAAAAA	PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAPSS2_chr10_87654878_87752705	87688443	T T	TTTTATTT others(14): Show TTTTATTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	372	0.0027	21	c.28- others(38): Show c.28-20746_28-20745insTATTTATTTATTTATTTATTT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87713312	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	372	0.0027	21	c.381 others(33): Show c.381+4_381+24dupAAAAAAAAAAAAAAAAAAAAA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAQR5_chr15_69293912_69412780	69378264	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0244 a0001c0001t0006g0244	1	284	0.0035	21	c.52- others(36): Show c.52-1613_52-1593dupAAAAAAAAAAAAAAAAAAAAA	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR7_chr1_25856484_25880708	25878385	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	362	0.0028	21	c.-30 others(32): Show c.-3007_-3006insATATATATATTTTTTTTTTTT	PAQR7	ENSG00000182749.6	transcript	ENST00000675840.1	protein_coding		2678		chr1	TogoVar
PAQR7_chr1_25856484_25880708	25878385	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0026 a0001c0001t0018g0026	1	362	0.0028	21	c.-30 others(32): Show c.-3007_-3006insATATATATATATTTTTTTTTT	PAQR7	ENSG00000182749.6	transcript	ENST00000675840.1	protein_coding		2678		chr1	TogoVar
PAQR8_chr6_52357151_52412777	52381807	A A	ATGGGCAT others(14): Show ATGGGCATTTAGCCTCAGCTGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0182 a0001c0001t0039g0182	1	390	0.0026	21	c.-53 others(40): Show c.-53+19560_-53+19580dupGGGCATTTAGCCTCAGCTGGT	PAQR8	ENSG00000170915.9	transcript	ENST00000442253.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
PAQR9_chr3_142949585_142968674	142967469	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0045 a0001c0011t0045	a0001c0011t0045g0000 a0001c0011t0045g0000	1	446	0.0022	21	c.-41 others(32): Show c.-4134_-4133insATTTTTTTTTTTTTTTTTTTT	PAQR9	ENSG00000188582.10	transcript	ENST00000340634.6	protein_coding		3796		chr3	TogoVar
PARD3B_chr2_204540475_205625162	205248414	T T	TGGTGGTG others(14): Show TGGTGGTGGTGGTGGTGGTGGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0003 a0009c0024t0003	a0009c0024t0003g0014 a0009c0024t0003g0014	1	54	0.0185	21	c.218 others(40): Show c.2185+2594_2185+2595insTGGTGGTGGTGGTGGTGGCGG	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205331782	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp2 HG02886.hp1 HG02055.hp1 HG02622.hp2 HG02886.hp1	a0003 a0008 a0009 a0003 a0008 a0009	a0003c0005 a0008c0014 a0009c0024 a0003c0005 a0008c0014 a0009c0024	a0003c0005t0001 a0008c0014t0011 a0009c0024t0003 a0003c0005t0001 a0008c0014t0011 a0009c0024t0003	a0003c0005t0001g0025 a0008c0014t0011g0023 a0009c0024t0003g0014 a0003c0005t0001g0025 a0008c0014t0011g0023 a0009c0024t0003g0014	3	54	0.0556	21	c.263 others(42): Show c.2630+30084_2630+30104dupAAAAAAAAAAAAAAAAAAAAA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205422849	G G	GGCTTAGC others(14): Show GGCTTAGCTTAGGTCTGTTGGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG01109.hp1 others(50): Show HG00609.hp1 HG00609.hp2 HG01109.hp1 HG01109.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0003 a0001c0015 others(25): Show a0001c0001 a0001c0003 a0001c0015 a0002c0002 a0002c0004 a0002c0006 a0002c0008 a0002c0016 a0002c0021 a0002c0022 a0003c0005 a0003c0009 a0003c0010 a0003c0018 a0004c0011 a0004c0012 a0004c0019 a0004c0020 a0004c0026 a0005c0013 a0006c0007 a0007c0017 a0007c0028 a0008c0014 a0009c0024 a0010c0025 a0011c0027 a0012c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 a0001c0003t0016 a0001c0015t0017 a0002c0002t0001 a0002c0002t0004 a0002c0002t0013 a0002c0004t0002 a0002c0004t0014 a0002c0004t0021 a0002c0006t0007 a0002c0008t0001 a0002c0008t0004 a0002c0016t0002 a0002c0021t0001 a0002c0022t0018 a0003c0005t0001 a0003c0005t0005 a0003c0009t0002 a0003c0009t0009 a0003c0010t0006 a0003c0010t0019 a0003c0018t0002 a0004c0011t0003 a0004c0011t0005 a0004c0012t0003 a0004c0019t0002 a0004c0020t0020 a0004c0026t0004 a0005c0013t0001 a0005c0013t0003 a0006c0007t0001 a0006c0007t0005 a0007c0017t0012 a0007c0028t0003 a0008c0014t0001 a0008c0014t0011 a0009c0024t0003 a0010c0025t0022 a0011c0027t0015 a0012c0023t0001	a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0002g0005 others(50): Show a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0002g0005 a0001c0001t0002g0019 a0001c0001t0002g0033 a0001c0001t0004g0017 a0001c0001t0010g0050 a0001c0003t0001g0031 a0001c0003t0003g0047 a0001c0003t0008g0049 a0001c0003t0016g0046 a0001c0015t0017g0015 a0002c0002t0001g0008 a0002c0002t0001g0027 a0002c0002t0004g0029 a0002c0002t0013g0022 a0002c0004t0002g0035 a0002c0004t0014g0016 a0002c0004t0021g0051 a0002c0006t0007g0013 a0002c0006t0007g0018 a0002c0008t0001g0054 a0002c0008t0004g0028 a0002c0016t0002g0037 a0002c0021t0001g0012 a0002c0022t0018g0020 a0003c0005t0001g0010 a0003c0005t0001g0025 a0003c0005t0005g0045 a0003c0009t0002g0034 a0003c0009t0009g0039 a0003c0010t0006g0021 a0003c0010t0019g0030 a0003c0018t0002g0038 a0004c0011t0003g0043 a0004c0011t0005g0044 a0004c0012t0003g0004 a0004c0012t0003g0048 a0004c0019t0002g0036 a0004c0020t0020g0032 a0004c0026t0004g0041 a0005c0013t0001g0001 a0005c0013t0003g0002 a0006c0007t0001g0026 a0006c0007t0005g0040 a0007c0017t0012g0006 a0007c0028t0003g0007 a0008c0014t0001g0011 a0008c0014t0011g0023 a0009c0024t0003g0014 a0010c0025t0022g0009 a0011c0027t0015g0003 a0012c0023t0001g0052	53	54	0.9815	21	c.274 others(42): Show c.2742-17521_2742-17520insGCTTAGCTTAGGTCTGTTGGT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	19/22			chr2	TogoVar
PARD3_chr10_34104561_34820296	34145221	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0017 a0001c0002t0007g0017	1	100	0.0100	21	c.342 others(42): Show c.3420-13639_3420-13638insAAATATATATATATATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	22/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34145221	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0022 a0002c0006t0002g0022	1	100	0.0100	21	c.342 others(42): Show c.3420-13639_3420-13638insAAAAAAATATATATATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	22/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34308112	C C	CAGGGAAG others(14): Show CAGGGAAGAGTAAAGTTACTGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02896.hp1 HG02818.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0066 a0001c0001t0001g0067	2	100	0.0200	21	c.306 others(40): Show c.3065+8974_3065+8994dupTCAGTAACTTTACTCTTCCCT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	20/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34768354	T T	TAACTCGA others(14): Show TAACTCGAAGCAAAGGCGGGAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01099.hp2 HG01109.hp1 others(13): Show HG00544.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02280.hp1 HG02818.hp2 HG03486.hp1 HG03688.hp1 HG03704.hp1 NA18975.hp1 NA19090.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0004c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0002t0002 a0001c0002t0004 a0001c0002t0020 a0001c0003t0001 a0001c0003t0005 a0001c0003t0008 a0001c0003t0010 a0001c0003t0018 a0001c0003t0019 a0004c0007t0008	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0079 others(13): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0079 a0001c0001t0005g0098 a0001c0001t0008g0041 a0001c0002t0002g0002 a0001c0002t0004g0015 a0001c0002t0020g0061 a0001c0003t0001g0070 a0001c0003t0005g0099 a0001c0003t0008g0046 a0001c0003t0010g0042 a0001c0003t0010g0045 a0001c0003t0018g0044 a0001c0003t0019g0089 a0004c0007t0008g0043	16	100	0.1600	21	c.120 others(40): Show c.120+46501_120+46521dupGTCCCGCCTTTGCTTCGAGTT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	1/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34768371	G G	GGGACAAC others(14): Show GGGACAACTCGAAGCAAAGGCA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp1 HG02559.hp2 others(6): Show HG01243.hp2 HG02451.hp1 HG02559.hp2 HG02723.hp1 HG02886.hp2 HG02970.hp2 HG03098.hp2 HG03225.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0001c0020	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0017 a0001c0002t0007 a0001c0002t0016 a0001c0011t0002 a0001c0020t0002	a0001c0001t0002g0016 a0001c0001t0002g0027 a0001c0001t0004g0019 others(6): Show a0001c0001t0002g0016 a0001c0001t0002g0027 a0001c0001t0004g0019 a0001c0001t0006g0018 a0001c0001t0017g0040 a0001c0002t0007g0017 a0001c0002t0016g0025 a0001c0011t0002g0026 a0001c0020t0002g0001	9	100	0.0900	21	c.120 others(40): Show c.120+46504_120+46505insTGCCTTTGCTTCGAGTTGTCC	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	1/24			chr10	TogoVar
PARG_chr10_49813279_49947027	49891623	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	292	0.0034	21	c.173 others(40): Show c.1738-6329_1738-6328insAAAAAAAAAAATATATATATA	PARG	ENSG00000227345.9	transcript	ENST00000616448.2	protein_coding	7/17			chr10	TogoVar
PARK7_chr1_7956711_7990505	7990498	T T	TCACCACC others(14): Show TCACCACCACCATCACCTTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA19000.hp1 NA18983.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0185 a0001c0001t0001g0013 a0001c0001t0001g0185	2	370	0.0054	21	c.54 others(32): Show c.5444_*5445insCACCACCACCATCACCTTCAC	PARK7	ENSG00000116288.13	transcript	ENST00000338639.10	protein_coding		4994		chr1	TogoVar
PARL_chr3_183824271_183889880	183861668	A A	ATTTAAGT others(14): Show ATTTAAGTCTAATCAATTAGAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	358	0.0028	21	c.511 others(38): Show c.511+1064_511+1084dupGTCTAATTGATTAGACTTAAA	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	4/9			chr3	TogoVar
PARN_chr16_14430701_14635260	14501435	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	169	0.0059	21	c.148 others(42): Show c.1481-18629_1481-18609dupTTTTTTTTTTTTTTTTTTTTT	PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	21/23			chr16	TogoVar
PARP10_chr8_143972158_143991460	143972360	T T	TGGGCACA others(14): Show TGGGCACAGCACTGTCAAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0079 a0003c0003t0001g0079	1	380	0.0026	21	c.51 others(32): Show c.5103_*5123dupCTCTTTGACAGTGCTGTGCCC	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding		4797		chr8	TogoVar
PARVB_chr22_44019302_44177939	44066801	C C	CCTCCTCC others(14): Show CCTCCTCCTCCTCCTCCTCCTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03041.hp2 HG02622.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0053 a0001c0008t0086 a0001c0001t0053 a0001c0008t0086	a0001c0001t0053g0126 a0001c0008t0086g0324 a0001c0001t0053g0126 a0001c0008t0086g0324	2	332	0.0060	21	c.113 others(40): Show c.113-27107_113-27106insTCTCCTCCTCCTCCTCCTCCT	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44120097	G G	GGGCAGCC others(14): Show GGGCAGCCTGGCCCCAAGCATA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	332	0.0030	21	c.376 others(36): Show c.376+959_376+979dupGCAGCCTGGCCCCAAGCATAG	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44139447	T T	TTGTTTGT others(14): Show TTGTTTGTTTGTTTTTTGAGAC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	332	0.0030	21	c.693 others(36): Show c.693-664_693-663insTTTGAGACTGTTTGTTTGTTT	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44151029	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA21309.hp2 HG02602.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0061 a0001c0001t0003 a0001c0001t0061	a0001c0001t0003g0144 a0001c0001t0061g0033 a0001c0001t0003g0144 a0001c0001t0061g0033	2	332	0.0060	21	c.775 others(36): Show c.775-446_775-426dupAAAAAAAAAAAAAAAAAAAAA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PASD1_chrX_151558675_151681739	151581227	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	221	0.0045	21	c.-28 others(40): Show c.-28+17394_-28+17414dupAAAAAAAAAAAAAAAAAAAAA	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PATJ_chr1_61737480_62168915	61886819	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA20129.hp1 HG03195.hp2 NA20129.hp1	a0001 a0062 a0001 a0062	a0001c0059 a0062c0063 a0001c0059 a0062c0063	a0001c0059t0009 a0062c0063t0027 a0001c0059t0009 a0062c0063t0027	a0001c0059t0009g0045 a0062c0063t0027g0100 a0001c0059t0009g0045 a0062c0063t0027g0100	2	158	0.0127	21	c.313 others(40): Show c.3131+2423_3131+2424insAAAAAAAAAAAAAAAAAAAAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	22/43		INFO_REALIGN_3_PRIME	chr1	TogoVar

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