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
PHACTR3_chr20_59599540_59852711	59635149	T T	TTCTTTCT others(34): Show TTCTTTCTTTCTTTTTCTTTCTTTCTTTCCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA19030.hp2 HG01261.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0003 a0001c0001t0003 a0001c0005t0003	a0001c0001t0003g0038 a0001c0005t0003g0035 a0001c0001t0003g0038 a0001c0005t0003g0035	2	118	0.0169	41	c.118 others(60): Show c.118+30018_118+30019insCTTTCTTTCTTTTTCTTTCTTTCTTT CCTTTCTTTCTTTCT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHF12_chr17_28900250_28956518	28923653	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	63	0.0159	41	c.715 others(56): Show c.715+255_715+256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	PHF12	ENSG00000109118.14	transcript	ENST00000332830.9	protein_coding	4/14			chr17	TogoVar
PHF3_chr6_63630802_63731011	63727735	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0283 a0001c0001t0077g0283	1	220	0.0045	41	c.14 others(54): Show c.14027_*14028insTATATATATATATATATATATATATATATATA TATATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1725		chr6	TogoVar
PHF3_chr6_63630802_63731011	63727737	A A	AAAAAAAT others(34): Show AAAAAAATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0275 a0001c0001t0031g0275	1	80	0.0125	41	c.14 others(54): Show c.14029_*14030insAAAAAATATATATATATATATATATATATATA TATATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1727		chr6	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	AAAAAAAA others(34): Show AAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0119 a0001c0007t0001g0119	1	22	0.0455	41	c.157 others(62): Show c.1576+48818_1576+48819insAAAAAAATATATATATATATATAT ATATATATATATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG02129.hp2 HG00544.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0286 a0001c0001t0002g0282 a0001c0001t0002g0286	2	42	0.0476	41	c.50 others(52): Show c.5049_*5050insAAAAAAAAATATATATATATATATATATATATAT ATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0281	1	41	0.0244	41	c.50 others(52): Show c.5049_*5050insAAAAAAAAAAATATATATATATATATATATATAT ATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	41	0.0244	41	c.50 others(52): Show c.5049_*5050insAAAAAAAAAAAAATATATATATATATATATATAT ATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIBF1_chr13_72777133_73021461	72844746	C C	CACACACA others(34): Show CACACACACACACACACACACACGGATGAAGTCTTACTGTTT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0164 a0002c0002t0001g0164	1	343	0.0029	41	c.122 others(60): Show c.1224-9289_1224-9288insGGATGAAGTCTTACTGTTTACACACA CACACACACACACAC	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIEZO1_chr16_88710338_88790220	88781293	G G	GAAACTTC others(34): Show GAAACTTCCTCTCTGTGGACCCTGGCAGCTGGGGCTGGAGCT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0078 a0078	a0078c0123 a0078c0123	a0078c0123t0001 a0078c0123t0001	a0078c0123t0001g0190 a0078c0123t0001g0190	1	280	0.0036	41	c.64+ others(56): Show c.64+3607_64+3608insAGCTCCAGCCCCAGCTGCCAGGGTCCACAG AGAGGAAGTTT	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	1/50			chr16	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	91	0.0110	41	c.18 others(50): Show c.185_*186insATATATATATATATATATATATATATATATTTTTTT TTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(34): Show AAAAAAAAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	91	0.0110	41	c.18 others(50): Show c.185_*186insATATATATATATATATATATATATATATATATTTTT TTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PINX1_chr8_10759961_10844875	10805879	G G	GGCCACAC others(34): Show GGCCACACTAGTGCTGAGGGAGGAGGCAGAGCACAGGAAGAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01168.hp2 HG01169.hp2 others(13): Show HG00280.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01361.hp1 HG01496.hp2 HG02055.hp1 HG02615.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0008 others(1): Show a0001c0003 a0001c0006 a0001c0008 a0001c0021	a0001c0003t0003 a0001c0006t0001 a0001c0008t0005 others(1): Show a0001c0003t0003 a0001c0006t0001 a0001c0008t0005 a0001c0021t0005	a0001c0003t0003g0003 a0001c0003t0003g0006 a0001c0003t0003g0109 others(11): Show a0001c0003t0003g0003 a0001c0003t0003g0006 a0001c0003t0003g0109 a0001c0003t0003g0111 a0001c0003t0003g0113 a0001c0003t0003g0116 a0001c0003t0003g0118 a0001c0003t0003g0129 a0001c0006t0001g0089 a0001c0008t0005g0185 a0001c0008t0005g0186 a0001c0008t0005g0187 a0001c0008t0005g0323 a0001c0021t0005g0104	16	352	0.0455	41	c.471 others(60): Show c.471+14313_471+14314insTTCTTCCTGTGCTCTGCCTCCTCCCT CAGCACTAGTGTGGC	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PINX1_chr8_10759961_10844875	10805897	G G	GGAGGAGG others(34): Show GGAGGAGGCAGAGCACAGGAAGAAGCCACACTAGTGCTGAGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp1 HG01109.hp1 others(16): Show HG00099.hp2 HG01081.hp1 HG01109.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG04199.hp2 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0006 a0001c0003t0001 a0001c0003t0003 a0001c0003t0006	a0001c0003t0001g0123 a0001c0003t0003g0003 a0001c0003t0003g0007 others(15): Show a0001c0003t0001g0123 a0001c0003t0003g0003 a0001c0003t0003g0007 a0001c0003t0003g0110 a0001c0003t0003g0112 a0001c0003t0003g0114 a0001c0003t0003g0115 a0001c0003t0003g0119 a0001c0003t0003g0122 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0130 a0001c0003t0006g0117 a0001c0003t0006g0120 a0001c0003t0006g0121	19	341	0.0557	41	c.471 others(60): Show c.471+14295_471+14296insACTCAGCACTAGTGTGGCTTCTTCCT GTGCTCTGCCTCCTC	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PIR_chrX_15379799_15498333	15492607	C C	CTTCTATC others(34): Show CTTCTATCTTTTTTTTTTATTTTTTTTTTTTTCATTTTCTTT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	270	0.0037	41	c.-53 others(56): Show c.-53+582_-53+583insAAAGAAAATGAAAAAAAAAAAAATAAAAAA AAAAGATAGAA	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	1/9			chrX	TogoVar
PITPNM3_chr17_6446263_6561555	6561189	T T	TCCTCTTC others(34): Show TCCTCTTCTCCTCCTCTCCCTTCCTCTTCCCCTTCCTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	216	0.0046	41	c.-47 others(52): Show c.-4784_-4783insGAAGGAGGAAGGGGAAGAGGAAGGGAGAGGAGGA GAAGAGG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4635		chr17	TogoVar
PKP3_chr11_389209_409908	401808	G G	GGCCCCGC others(34): Show GGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0009 a0009	a0009c0033 a0009c0033	a0009c0033t0001 a0009c0033t0001	a0009c0033t0001g0160 a0009c0033t0001g0160	1	164	0.0061	41	c.173 others(60): Show c.1737+1103_1737+1104insGCCCCGCTCACCCCCGACCCGCTCAC CCCGGACCCCGCTCA	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLA2G4A_chr1_186823949_186993981	186857057	C C	CTGGATGA others(34): Show CTGGATGATCTGGGGAACTGGCCATTCAGTTTCTTCTTTTAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00642.hp1 others(55): Show HG00140.hp2 HG00597.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02129.hp2 HG02258.hp2 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG03017.hp1 HG03041.hp1 HG03195.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04228.hp1 NA18747.hp2 NA18906.hp2 NA18946.hp1 NA18983.hp2 NA19003.hp1 NA19057.hp1 NA20300.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0005 a0001c0001 a0001c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(54): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0191 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0002g0145 a0001c0004t0001g0182 a0003c0005t0001g0228 a0003c0005t0001g0288	58	306	0.1895	41	c.33+ others(56): Show c.33+2670_33+2671insTGGATGATCTGGGGAACTGGCCATTCAGTT TCTTCTTTTAA	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	2/17			chr1	TogoVar
PLA2G4C_chr19_48042846_48115817	48055410	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0030 a0009c0017t0030	a0009c0017t0030g0317 a0009c0017t0030g0317	1	317	0.0032	41	c.125 others(58): Show c.1258-362_1258-361insTATATATATATATATATATATATATATA TATATATATATAT	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	14/16			chr19	TogoVar
PLCB1_chr20_8127266_8889900	8661947	A A	ATATATAA others(34): Show ATATATAATTATATAATTATTTATTATATAATTATATATAAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0009 a0002c0024t0009	a0002c0024t0009g0081 a0002c0024t0009g0081	1	106	0.0094	41	c.862 others(58): Show c.862+3255_862+3295dupATAATTATTTATTATATAATTATATATA ATTATATAATTAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB4_chr20_9064087_9485808	9332469	T T	TTTGCTCT others(34): Show TTTGCTCTGTGAATTTTCATGGGTGGTTTGAAGCATTTGGTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0117 a0001c0001t0012g0117	1	138	0.0072	41	c.85- others(56): Show c.85-4656_85-4616dupTTGCTCTGTGAATTTTCATGGGTGGTTTGA AGCATTTGGTC	PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	4/39		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCXD1_chrX_276381_308356	276610	G G	GGCCTGCA others(34): Show GGCCTGCACCCCTTGCAGACCGTGAATTCGGCAGCCACAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0071 a0001c0001t0036g0071	1	174	0.0057	41	c.-50 others(52): Show c.-5096_-5095insGCCTGCACCCCTTGCAGACCGTGAATTCGGCAGC CACAGGC	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		4770		chrX	TogoVar
PLCXD1_chrX_276381_308356	280455	G G	GGGGAGGC others(34): Show GGGGAGGCCGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01496.hp1 HG01496.hp2 others(8): Show HG00735.hp2 HG01496.hp1 HG01496.hp2 HG02056.hp1 HG02148.hp2 HG02293.hp2 NA18948.hp1 NA18964.hp1 NA18969.hp1 NA19011.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0001t0028 a0001c0001t0030 others(6): Show a0001c0001t0009 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0003t0038 a0001c0003t0039	a0001c0001t0009g0068 a0001c0001t0009g0070 a0001c0001t0009g0077 others(8): Show a0001c0001t0009g0068 a0001c0001t0009g0070 a0001c0001t0009g0077 a0001c0001t0028g0066 a0001c0001t0030g0064 a0001c0001t0031g0014 a0001c0001t0032g0063 a0001c0001t0033g0069 a0001c0001t0034g0067 a0001c0003t0038g0005 a0001c0003t0039g0005	11	104	0.1058	41	c.-12 others(52): Show c.-1251_-1250insGGGAGGCCGTGCAGGGGGCAGCGGAGGCCGTGCA GGGGGAA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		925		chrX	TogoVar
PLCXD1_chrX_276381_308356	280600	A A	AGGCCGTG others(34): Show AGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGCGGAGCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp1 NA19006.hp1 NA18991.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0071 a0001c0002t0004 a0001c0001t0071 a0001c0002t0004	a0001c0001t0071g0168 a0001c0002t0004g0122 a0001c0001t0071g0168 a0001c0002t0004g0122	2	73	0.0274	41	c.-11 others(52): Show c.-1106_-1105insGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGCGG AGCGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		780		chrX	TogoVar
PLCXD1_chrX_276381_308356	280615	A A	AGGGGAAG others(34): Show AGGGGAAGACGTGCAGGCGGAGCGGGGGCCGTGCAGGCGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0037 a0001c0003t0002g0037	1	173	0.0058	41	c.-10 others(52): Show c.-1091_-1090insGGGGAAGACGTGCAGGCGGAGCGGGGGCCGTGCA GGCGGAG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		765		chrX	TogoVar
PLCXD1_chrX_276381_308356	280755	G G	GAAGGGAG others(34): Show GAAGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02559.hp2 HG02280.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0074 a0001c0001t0020g0075 a0001c0001t0020g0074 a0001c0001t0020g0075	2	173	0.0116	41	c.-95 others(50): Show c.-951_-950insAAGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAG GGGGC	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		625		chrX	TogoVar
PLCXD1_chrX_276381_308356	280778	G G	GGGAGGCC others(34): Show GGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 NA18969.hp1 NA18980.hp1 others(2): Show HG01496.hp1 NA18969.hp1 NA18980.hp1 NA19011.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0030 a0001c0001t0033 others(2): Show a0001c0001t0009 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0040	a0001c0001t0009g0070 a0001c0001t0030g0064 a0001c0001t0033g0069 others(2): Show a0001c0001t0009g0070 a0001c0001t0030g0064 a0001c0001t0033g0069 a0001c0001t0034g0067 a0001c0001t0040g0065	5	152	0.0329	41	c.-92 others(50): Show c.-928_-927insGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGG GCAGC	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		602		chrX	TogoVar
PLCXD1_chrX_276381_308356	297604	G G	GTCTCCCA others(34): Show GTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0154 a0001c0001t0013g0154	1	116	0.0086	41	c.734 others(58): Show c.734-1492_734-1491insCTCCCACATGGGGATTAGGACGTGGACA TCTTTGGGGACAT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLD1_chr3_171595404_171815483	171764878	A A	AGGAAGGA others(34): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0112 a0001c0002t0007g0112	1	225	0.0044	41	c.-31 others(60): Show c.-31-26797_-31-26796insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCC	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLD5_chr1_242077986_242529697	242194614	C C	CTATCTAT others(34): Show CTATCTATCTAATCTATCTATCTATGTATCTATCTATCTATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0119 a0001c0001t0052g0119	1	168	0.0060	41	c.735 others(60): Show c.735+25373_735+25374insCATAGATAGATAGATACATAGATAGA TAGATTAGATAGATA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	5/9			chr1	TogoVar
PLEK2_chr14_67381984_67417165	67398551	T T	TACCCTTC others(34): Show TACCCTTCTCTTTATTCCTGCCACCTGAGAACCACCTAAACG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	235	0.0043	41	c.43- others(54): Show c.43-766_43-726dupCGTTTAGGTGGTTCTCAGGTGGCAGGAATAAA GAGAAGGGT	PLEK2	ENSG00000100558.9	transcript	ENST00000216446.9	protein_coding	1/8			chr14	TogoVar
PLEK2_chr14_67381984_67417165	67399281	C C	CTCAGGTG others(34): Show CTCAGGTGGCAGGAATAAAGAGAAGGGTAGTTTAGGTGGCTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02257.hp2 others(7): Show HG01884.hp2 HG02109.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02630.hp2 HG03139.hp2 HG03453.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0084 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087	10	352	0.0284	41	c.43- others(56): Show c.43-1496_43-1456dupCAGCCACCTAAACTACCCTTCTCTTTATTC CTGCCACCTGA	PLEK2	ENSG00000100558.9	transcript	ENST00000216446.9	protein_coding	1/8			chr14	TogoVar
PLEK2_chr14_67381984_67417165	67399404	C C	CTCAGGTG others(34): Show CTCAGGTGGCAGGAATAAAGAGAAGGGTAGTTTAGGTGGCTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	349	0.0029	41	c.43- others(56): Show c.43-1619_43-1579dupCAGCCACCTAAACTACCCTTCTCTTTATTC CTGCCACCTGA	PLEK2	ENSG00000100558.9	transcript	ENST00000216446.9	protein_coding	1/8			chr14	TogoVar
PLEK2_chr14_67381984_67417165	67399646	T T	TTCTCAGG others(34): Show TTCTCAGGTGGCAGGAATAAAGAGAAGGGTGGTTTAGGTGGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02559.hp1 others(3): Show HG02257.hp2 HG02280.hp2 HG02559.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0043 a0001c0001t0001g0217 a0001c0001t0001g0017 a0001c0001t0001g0043 a0001c0001t0001g0217	6	345	0.0174	41	c.43- others(56): Show c.43-1861_43-1821dupCCCACCTAAACCACCCTTCTCTTTATTCCT GCCACCTGAGA	PLEK2	ENSG00000100558.9	transcript	ENST00000216446.9	protein_coding	1/8			chr14	TogoVar
PLEK2_chr14_67381984_67417165	67399648	C C	GTCAGGTG others(34): Show GTCAGGTGGCAGGAATAAAGAGAAGGGTAGTTTAGGTGGTTC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	352	0.0028	41	c.43- others(56): Show c.43-1822_43-1821insAACCACCTAAACTACCCTTCTCTTTATTCC TGCCACCTGAC	PLEK2	ENSG00000100558.9	transcript	ENST00000216446.9	protein_coding	1/8			chr14	TogoVar
PLEKHG7_chr12_92697989_92777455	92737749	G G	GAGGAAGG others(34): Show GAGGAAGGAAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG01168.hp2 others(1): Show HG00099.hp1 HG00609.hp1 HG01168.hp2 HG01169.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0015 a0004c0006 a0001c0001 a0001c0015 a0004c0006	a0001c0001t0001 a0001c0015t0004 a0004c0006t0007 a0001c0001t0001 a0001c0015t0004 a0004c0006t0007	a0001c0001t0001g0111 a0001c0015t0004g0100 a0004c0006t0007g0206 others(1): Show a0001c0001t0001g0111 a0001c0015t0004g0100 a0004c0006t0007g0206 a0004c0006t0007g0207	4	136	0.0294	41	c.939 others(56): Show c.939+239_939+240insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGG	PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHM3_chr2_207816288_208030527	207865801	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	97	0.0103	41	c.195 others(60): Show c.1951-4540_1951-4539insATATATATATATATATATATATATAT TTTTTTTTTTTTTTT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	6/7			chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	207865801	A A	AAAAAAAA others(34): Show AAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	97	0.0103	41	c.195 others(60): Show c.1951-4540_1951-4539insATATATATATATATATATATATATAT ATATATTTTTTTTTT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	6/7			chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	207925371	A A	AGGCTCAT others(34): Show AGGCTCATCTTCCTTTTGCCTCTTCTCCCCTGTTCACCTCCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0175 a0001c0001t0013g0175	1	198	0.0051	41	c.188 others(60): Show c.1886+5514_1886+5554dupAGGAGGTGAACAGGGGAGAAGAGGCA AAAGGAAGATGAGCC	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	5/7			chr2	TogoVar
PLGRKT_chr9_5352971_5442925	5424403	A A	ATATTAAC others(34): Show ATATTAACATATAATATATAACATATTATAAAATATAATATG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02809.hp2 HG02717.hp1 HG02809.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0032 a0004c0004t0001g0033 a0004c0004t0001g0032 a0004c0004t0001g0033	2	412	0.0049	41	c.81+ others(56): Show c.81+7493_81+7494insCATATTATATTTTATAATATGTTATATATT ATATGTTAATA	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5			chr9	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAATATATATATATATATATATAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	125	0.0080	41	c.-24 others(52): Show c.-2481_-2480insAAAAAAAAAAAAAAATATATATATATATATATAT AATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 NA19067.hp2 HG02523.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0002t0001g0002 a0001c0001t0001g0004 a0001c0002t0001g0002	2	126	0.0159	41	c.-24 others(52): Show c.-2481_-2480insAAAAAAAAAAAAAATATATATATATATATATATA TATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(34): Show AAAAAAAAAAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA19054.hp2 NA18962.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0002t0001g0002 a0001c0001t0001g0004 a0001c0002t0001g0002	2	126	0.0159	41	c.-24 others(52): Show c.-2481_-2480insAAAAAAAAAATATATATATATATATATATATATA TATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLOD1_chr1_11929717_11980537	11967642	A A	ATATATAT others(34): Show ATATATATATATATATATAAAGAAATATATATAGATTTTATT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0291 a0004c0011t0001g0291	1	377	0.0027	41	c.175 others(58): Show c.1755+568_1755+569insAAAGAAATATATATAGATTTTATTTATA TATATATATATAT	PLOD1	ENSG00000083444.17	transcript	ENST00000196061.5	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557008	A A	AAGAAGGA others(34): Show AAGAAGGAAAGAAAGAAAGAAAAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0305 a0001c0001t0002g0305	1	259	0.0039	41	c.140 others(60): Show c.140-19897_140-19896insCTTTCTTTCTCTTTCTTTCTTTTCTT TCTTTCTTTCCTTCT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557010	G G	GAAAGAAA others(34): Show GAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01361.hp1 HG02602.hp1 others(1): Show HG00621.hp2 HG01361.hp1 HG02602.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0325 a0001c0001t0002g0114 a0001c0001t0004g0101 others(1): Show a0001c0001t0001g0325 a0001c0001t0002g0114 a0001c0001t0004g0101 a0001c0001t0005g0278	4	284	0.0141	41	c.140 others(60): Show c.140-19899_140-19898insTTCTTTCTCTTTCTTTCTTTTCTTTC TTTCTTTCTTTCTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557010	G G	GAAAGAAA others(34): Show GAAAGAAAGAAGGAAAGAAAGAAAAGAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp1 HG01884.hp1 others(4): Show HG00280.hp2 HG00741.hp1 HG01884.hp1 HG01993.hp2 HG02273.hp2 HG02976.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0003t0004 a0002c0004t0003	a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0004g0174 others(4): Show a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0004g0174 a0001c0002t0001g0157 a0001c0002t0001g0159 a0001c0003t0004g0173 a0002c0004t0003g0013	7	287	0.0244	41	c.140 others(60): Show c.140-19899_140-19898insTTCTTTCTCTTTCTTTCTTTTCTTTC TTTCCTTCTTTCTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557010	G G	GAAAGAAG others(34): Show GAAAGAAGGAAAGAAAGAAAGAAAAGAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02896.hp1 NA19068.hp2 HG02165.hp1 HG02896.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0001t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0310 a0001c0001t0005g0049 a0001c0002t0001g0147 a0001c0001t0001g0310 a0001c0001t0005g0049 a0001c0002t0001g0147	3	283	0.0106	41	c.140 others(60): Show c.140-19899_140-19898insTTCTTTCTCTTTCTTTCTTTTCTTTC TTTCTTTCCTTCTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLSCR4_chr3_146187335_146256105	146192129	T T	TAATATAT others(34): Show TAATATATATAAATTATATATATTATATATAAATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0084 a0002c0002t0006g0084	1	92	0.0109	41	c.22 others(52): Show c.2281_*2282insTTATATATATTTATATATAATATATATAATTTAT ATATATT	PLSCR4	ENSG00000114698.15	transcript	ENST00000354952.7	protein_coding		205		chr3	TogoVar
PLVAP_chr19_17346455_17382342	17382276	A A	AGAAAGAA others(34): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA19079.hp2 NA18970.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0296 a0001c0001t0001g0298	2	165	0.0121	41	c.-49 others(52): Show c.-4989_-4988insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTC	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4935		chr19	TogoVar

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