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
PITPNC1_chr17_67372281_67702256	67494185	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 NA18943.hp1 others(2): Show HG01243.hp1 HG02258.hp2 NA18943.hp1 NA18969.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0025 others(2): Show a0001c0001t0001 a0001c0001t0024 a0001c0001t0025 a0001c0001t0041 a0001c0001t0044	a0001c0001t0001g0123 a0001c0001t0024g0114 a0001c0001t0025g0107 others(2): Show a0001c0001t0001g0123 a0001c0001t0024g0114 a0001c0001t0025g0107 a0001c0001t0041g0074 a0001c0001t0044g0106	5	62	0.0806	30	c.49- others(47): Show c.49-38616_49-38615insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67502744	C C	CATTGCAT others(23): Show CATTGCATTGCATTGTATTGTATTGTATTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0110 a0001c0001t0046g0110	1	54	0.0185	30	c.49- others(47): Show c.49-30054_49-30053insCATTGCATTGTATTGTATTGTATTGTAT TG	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67522659	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02818.hp1 HG01891.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0055 a0001c0001t0007 a0001c0001t0055	a0001c0001t0007g0075 a0001c0001t0055g0092 a0001c0001t0007g0075 a0001c0001t0055g0092	2	50	0.0400	30	c.49- others(47): Show c.49-10129_49-10128insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67599001	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02148.hp1 HG02004.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0131 a0001c0001t0002g0115 a0001c0001t0001g0131 a0001c0001t0002g0115	2	142	0.0141	30	c.366 others(49): Show c.366+20749_366+20778dupATATATATATATATATATATATATAT ATAT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67599034	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	145	0.0069	30	c.366 others(49): Show c.366+20778_366+20779insATATATATATATATATATATATATTT TTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67621180	C C	CATTTTAT others(23): Show CATTTTATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG02630.hp1 others(1): Show HG00639.hp2 HG00735.hp1 HG02630.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0019 others(1): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0019 a0001c0001t0026	a0001c0001t0005g0213 a0001c0001t0009g0159 a0001c0001t0019g0085 others(1): Show a0001c0001t0005g0213 a0001c0001t0009g0159 a0001c0001t0019g0085 a0001c0001t0026g0192	4	14	0.2857	30	c.367 others(49): Show c.367-10946_367-10917dupTTTTATTTTATTTTATTTTATTTTAT TTTA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67629238	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG02056.hp1 others(3): Show HG00544.hp1 HG00544.hp2 HG02056.hp1 HG02683.hp2 HG02723.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015	a0001c0001t0001g0082 a0001c0001t0003g0009 a0001c0001t0004g0129 others(3): Show a0001c0001t0001g0082 a0001c0001t0003g0009 a0001c0001t0004g0129 a0001c0001t0004g0191 a0001c0001t0006g0118 a0001c0001t0015g0015	6	13	0.4615	30	c.367 others(47): Show c.367-2877_367-2876insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67688338	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01192.hp1 HG01934.hp1 others(4): Show HG00140.hp2 HG01192.hp1 HG01934.hp1 HG01934.hp2 HG02738.hp2 NA18943.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0024	a0001c0001t0001g0160 a0001c0001t0003g0006 a0001c0001t0003g0007 others(4): Show a0001c0001t0001g0160 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0021 a0001c0001t0003g0033 a0001c0001t0014g0016 a0001c0001t0024g0114	7	49	0.1429	30	c.683 others(47): Show c.683-4221_683-4220insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM1_chr11_67486768_67510363	67494793	T T	TGAGTGGG others(23): Show TGAGTGGGCGAGAGTGGGCGAGAGTGGGCGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	140	0.0071	30	c.274 others(45): Show c.2742+52_2742+53insTCGCCCACTCTCGCCCACTCTCGCCCACTC	PITPNM1	ENSG00000110697.13	transcript	ENST00000356404.8	protein_coding	18/23			chr11	TogoVar
PITPNM3_chr17_6446263_6561555	6491836	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03139.hp1 NA18952.hp1 others(1): Show HG02630.hp2 HG03139.hp1 NA18952.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0014 a0001c0002t0022 a0001c0003t0001 a0001c0001t0014 a0001c0002t0022 a0001c0003t0001	a0001c0001t0014g0030 a0001c0002t0022g0180 a0001c0003t0001g0199 others(1): Show a0001c0001t0014g0030 a0001c0002t0022g0180 a0001c0003t0001g0199 a0001c0003t0001g0200	4	60	0.0667	30	c.275 others(47): Show c.275-7545_275-7544insTTATATATATATATATATATATATATAT AT	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	4/19			chr17	TogoVar
PITRM1_chr10_3132728_3177782	3174583	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG01081.hp2 NA18951.hp1 others(5): Show HG00408.hp1 HG01081.hp2 NA18951.hp1 NA18962.hp1 NA18984.hp2 NA18989.hp2 NA19066.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0086 a0001c0002t0001g0001 a0001c0002t0001g0003 others(1): Show a0001c0001t0001g0086 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0237	8	14	0.5714	30	c.-18 others(41): Show c.-1812_-1811insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding		1802		chr10	TogoVar
PIWIL3_chr22_24714034_24779720	24757079	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18522.hp1 HG01884.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0353 a0001c0001t0001g0356 a0001c0001t0001g0353 a0001c0001t0001g0356	2	62	0.0323	30	c.356 others(45): Show c.356-375_356-374insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24757671	C C	CACACACA others(23): Show CACACACATATATATAAAATATGTATATATT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03209.hp1 HG02818.hp2 HG03209.hp1	a0001 a0018 a0001 a0018	a0001c0007 a0018c0027 a0001c0007 a0018c0027	a0001c0007t0002 a0018c0027t0002 a0001c0007t0002 a0018c0027t0002	a0001c0007t0002g0088 a0018c0027t0002g0087 a0001c0007t0002g0088 a0018c0027t0002g0087	2	383	0.0052	30	c.355 others(45): Show c.355+236_355+237insAATATATACATATTTTATATATATGTGTGT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PKD1L1_chr7_47769614_47953466	47865568	A A	ATTATTTT others(23): Show ATTATTTTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01346.hp1 HG03710.hp2 others(1): Show HG00280.hp2 HG01346.hp1 HG03710.hp2 NA19065.hp1	a0004 a0012 a0014 others(1): Show a0004 a0012 a0014 a0026	a0004c0029 a0012c0016 a0014c0020 others(1): Show a0004c0029 a0012c0016 a0014c0020 a0026c0116	a0004c0029t0002 a0012c0016t0002 a0014c0020t0001 others(1): Show a0004c0029t0002 a0012c0016t0002 a0014c0020t0001 a0026c0116t0001	a0004c0029t0002g0279 a0012c0016t0002g0206 a0014c0020t0001g0031 others(1): Show a0004c0029t0002g0279 a0012c0016t0002g0206 a0014c0020t0001g0031 a0026c0116t0001g0200	4	172	0.0233	30	c.409 others(47): Show c.4093-326_4093-297dupAATAAAATAAAATAAAATAAAATAAAAT AA	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	25/56			chr7	TogoVar
PKD1L1_chr7_47769614_47953466	47902033	G G	GGAAAAGA others(23): Show GGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02257.hp1 HG02451.hp1	a0015 a0056 a0015 a0056	a0015c0014 a0056c0093 a0015c0014 a0056c0093	a0015c0014t0001 a0056c0093t0001 a0015c0014t0001 a0056c0093t0001	a0015c0014t0001g0025 a0056c0093t0001g0015 a0015c0014t0001g0025 a0056c0093t0001g0015	2	285	0.0070	30	c.206 others(47): Show c.2064+345_2064+346insTTTTCTTTTCTTTTCTTTTCTTTTCTTT TC	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	13/56			chr7	TogoVar
PKHD1L1_chr8_109357461_109542207	109410726	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0067 a0067	a0067c0055 a0067c0055	a0067c0055t0007 a0067c0055t0007	a0067c0055t0007g0257 a0067c0055t0007g0257	1	55	0.0182	30	c.208 others(47): Show c.2085+766_2085+767insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	19/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1L1_chr8_109357461_109542207	109410734	T T	TTTTTTTT others(23): Show TTTTTTTTTTTGTTTTTTTTTTTTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0190 a0001c0001t0010g0190	1	280	0.0036	30	c.208 others(47): Show c.2085+766_2085+767insGTTTTTTTTTTTTTTGTTTGTTTTTTTT TT	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	19/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1L1_chr8_109357461_109542207	109487890	G G	GGAAGGAA others(23): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0044 a0044	a0044c0046 a0044c0046	a0044c0046t0004 a0044c0046t0004	a0044c0046t0004g0012 a0044c0046t0004g0012	1	28	0.0357	30	c.988 others(49): Show c.9880+1069_9880+1070insGAAGGAAGGAAGGAAGGAAGGAAGGA AGGA	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	59/77			chr8	TogoVar
PKHD1_chr6_51610299_52092613	51801654	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA20752.hp2 HG02970.hp1 NA20752.hp2	a0003 a0032 a0003 a0032	a0003c0041 a0032c0035 a0003c0041 a0032c0035	a0003c0041t0001 a0032c0035t0006 a0003c0041t0001 a0032c0035t0006	a0003c0041t0001g0045 a0032c0035t0006g0059 a0003c0041t0001g0045 a0032c0035t0006g0059	2	101	0.0198	30	c.830 others(51): Show c.8303-10282_8303-10281insTCTCACACACACACACACACACAC ACACAC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	52/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51801654	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0008 a0008	a0008c0003 a0008c0003	a0008c0003t0001 a0008c0003t0001	a0008c0003t0001g0012 a0008c0003t0001g0012	1	100	0.0100	30	c.830 others(51): Show c.8303-10282_8303-10281insTCACACACACACACACACACACAC ACACAC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	52/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCTCCC others(23): Show GCTCTCCCTCCCCCTCCCCCTCCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	82	0.0122	30	c.575 others(51): Show c.5752-21279_5752-21278insGGGGAGGGGGAGGGGGAGGGGGAG GGAGAG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKIA_chr8_78511340_78610267	78524053	T T	TATAAACA others(23): Show TATAAACATTTATATTTATATATAAATATAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	175	0.0057	30	c.-15 others(49): Show c.-157+7615_-157+7644dupAATAAACATTTATATTTATATATAAA TATA	PKIA	ENSG00000171033.13	transcript	ENST00000396418.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKIA_chr8_78511340_78610267	78602694	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0019 a0001c0001t0017g0019	1	119	0.0084	30	c.89 others(39): Show c.893_*894insATATATATATATATATATATATATATATAT	PKIA	ENSG00000171033.13	transcript	ENST00000396418.7	protein_coding	4/4	894	INFO_REALIGN_3_PRIME	chr8	TogoVar
PKN2_chr1_88679273_88841255	88820180	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0062 a0002c0006t0002g0062	1	45	0.0222	30	c.228 others(49): Show c.2280-1736_2280-1707dupTATATATATATATATATATATATATA TATA	PKN2	ENSG00000065243.20	transcript	ENST00000370521.8	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PKN3_chr9_128697503_128725916	128717117	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA19057.hp1 NA19057.hp2 NA18998.hp1 NA19057.hp1 NA19057.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0009 a0001c0001 a0014c0009	a0001c0001t0001 a0014c0009t0001 a0001c0001t0001 a0014c0009t0001	a0001c0001t0001g0097 a0001c0001t0001g0139 a0014c0009t0001g0137 a0001c0001t0001g0097 a0001c0001t0001g0139 a0014c0009t0001g0137	3	14	0.2143	30	c.198 others(47): Show c.1985+220_1985+221insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PKN3	ENSG00000160447.7	transcript	ENST00000291906.5	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PKNOX1_chr21_42969562_43038931	42987404	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0110 a0001c0001t0012g0110	1	196	0.0051	30	c.-57 others(49): Show c.-57+12741_-57+12742insAAAAAAAAAAAATATATATATATATA TATA	PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PKNOX1_chr21_42969562_43038931	42987404	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0164 a0001c0001t0015g0164	1	196	0.0051	30	c.-57 others(49): Show c.-57+12741_-57+12742insAAAATATATATATATATATATATATA TATA	PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PKNOX1_chr21_42969562_43038931	42987404	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02622.hp2 HG00323.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0013 a0001c0001t0008g0158 a0001c0001t0007g0013 a0001c0001t0008g0158	2	197	0.0102	30	c.-57 others(49): Show c.-57+12741_-57+12742insAATATATATATATATATATATATATA TATA	PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PKNOX2_chr11_125159751_125438389	125189405	A A	ATATATAT others(23): Show ATATATATATGTGTGTATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02818.hp1 HG03098.hp1 others(1): Show HG02280.hp2 HG02818.hp1 HG03098.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0002 a0001c0001t0005 a0003c0007t0004 a0001c0001t0002 a0001c0001t0005 a0003c0007t0004	a0001c0001t0002g0146 a0001c0001t0005g0119 a0001c0001t0005g0175 others(1): Show a0001c0001t0002g0146 a0001c0001t0005g0119 a0001c0001t0005g0175 a0003c0007t0004g0179	4	195	0.0205	30	c.-20 others(51): Show c.-201+24644_-201+24645insATATATATATGTGTGTATATATAT GTGTGT	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP2_chr12_32785755_32901777	32865681	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02886.hp2 NA18906.hp1 others(1): Show HG01175.hp1 HG02886.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0022 others(1): Show a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0005g0149	4	129	0.0310	30	c.117 others(49): Show c.1170+3245_1170+3246insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	4/12			chr12	TogoVar
PKP3_chr11_389209_409908	398140	T T	TCCGTCAC others(23): Show TCCGTCACCTCCGTACCCCCGCACACACCTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0173 a0001c0002t0001g0173	1	207	0.0048	30	c.106 others(47): Show c.1068+479_1068+480insCGTCACCTCCGTACCCCCGCACACACCT GC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398197	T T	TCTGTCAC others(23): Show TCTGTCACCTCCCTACCCCCGCACACACCTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03834.hp1 NA19011.hp1 HG02622.hp2 HG03834.hp1 NA19011.hp1	a0001 a0017 a0001 a0017	a0001c0001 a0001c0021 a0017c0027 a0001c0001 a0001c0021 a0017c0027	a0001c0001t0001 a0001c0021t0001 a0017c0027t0001 a0001c0001t0001 a0001c0021t0001 a0017c0027t0001	a0001c0001t0001g0018 a0001c0021t0001g0086 a0017c0027t0001g0107 a0001c0001t0001g0018 a0001c0021t0001g0086 a0017c0027t0001g0107	3	209	0.0144	30	c.106 others(47): Show c.1068+536_1068+537insTGTCACCTCCCTACCCCCGCACACACCT GC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398197	T T	TGCGTCAC others(23): Show TGCGTCACCTCCCTACCCCCGCACACACCTG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	207	0.0048	30	c.106 others(47): Show c.1068+535_1068+536insGCGTCACCTCCCTACCCCCGCACACACC TG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12			chr11	TogoVar
PKP3_chr11_389209_409908	401194	A A	ACCCACCC others(23): Show ACCCACCCCGCTCACACCCGCCCCGCTCACC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	93	0.0108	30	c.173 others(47): Show c.1737+492_1737+493insACCCCGCTCACACCCGCCCCGCTCACCC CC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401194	A A	ACCCGCCC others(23): Show ACCCGCCCCGCTCACACCCGCCCCGCTCACC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG00639.hp2 others(33): Show HG00609.hp1 HG00639.hp1 HG00639.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01496.hp1 HG01891.hp1 HG01943.hp1 HG01952.hp1 HG02074.hp1 HG02109.hp2 HG02165.hp2 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02735.hp2 HG02886.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03492.hp2 HG03704.hp2 HG04199.hp2 NA18612.hp1 NA18970.hp2 NA18971.hp2 NA18983.hp1 NA19030.hp1 NA19065.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0009 a0012 a0019	a0001c0002 a0001c0003 a0001c0004 others(8): Show a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0016 a0001c0036 a0002c0013 a0006c0031 a0009c0033 a0012c0020 a0019c0032	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(8): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0010t0003 a0001c0016t0001 a0001c0036t0001 a0002c0013t0001 a0006c0031t0001 a0009c0033t0001 a0012c0020t0001 a0019c0032t0001	a0001c0002t0001g0004 a0001c0002t0001g0100 a0001c0002t0001g0124 others(31): Show a0001c0002t0001g0004 a0001c0002t0001g0100 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0134 a0001c0002t0001g0138 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0159 a0001c0003t0001g0003 a0001c0003t0001g0095 a0001c0003t0001g0099 a0001c0003t0001g0105 a0001c0003t0001g0115 a0001c0003t0001g0139 a0001c0003t0001g0147 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0004t0001g0074 a0001c0010t0003g0022 a0001c0016t0001g0201 a0001c0036t0001g0165 a0002c0013t0001g0108 a0002c0013t0001g0109 a0002c0013t0001g0175 a0006c0031t0001g0163 a0009c0033t0001g0160 a0012c0020t0001g0024 a0019c0032t0001g0144	36	128	0.2813	30	c.173 others(47): Show c.1737+493_1737+494insCCCCGCTCACACCCGCCCCGCTCACCCC CG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401199	G G	CCCCGCTC others(23): Show CCCCGCTCACACCCGCCCCGCTCACCCCCGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp1 HG01934.hp2 others(9): Show HG00099.hp2 HG00673.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG02074.hp2 HG02451.hp1 HG02683.hp1 HG02723.hp2 HG03017.hp1 HG03453.hp1 HG06807.hp1	a0001 a0010 a0014 a0001 a0010 a0014	a0001c0002 a0001c0003 a0001c0010 others(2): Show a0001c0002 a0001c0003 a0001c0010 a0010c0017 a0014c0034	a0001c0002t0001 a0001c0003t0001 a0001c0010t0003 others(2): Show a0001c0002t0001 a0001c0003t0001 a0001c0010t0003 a0010c0017t0001 a0014c0034t0001	a0001c0002t0001g0103 a0001c0002t0001g0132 a0001c0002t0001g0133 others(9): Show a0001c0002t0001g0103 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0003t0001g0096 a0001c0003t0001g0098 a0001c0003t0001g0143 a0001c0003t0001g0151 a0001c0010t0003g0021 a0010c0017t0001g0106 a0014c0034t0001g0157	12	75	0.1600	30	c.173 others(47): Show c.1737+493_1737+494insCCCCGCTCACACCCGCCCCGCTCACCCC CG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	401240	A A	ACCCGACC others(23): Show ACCCGACCCGCTCACCCCGGCCCCGCTCACC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	65	0.0154	30	c.173 others(47): Show c.1737+539_1737+540insACCCGCTCACCCCGGCCCCGCTCACCCC CG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401240	A A	ACCCGGCC others(23): Show ACCCGGCCCGCTCACCCCCGGCCCCGCTCAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0137	1	65	0.0154	30	c.173 others(47): Show c.1737+543_1737+544insGCTCACCCCCGGCCCCGCTCACCCCGGC CC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401707	G G	GCCCCGCT others(23): Show GCCCCGCTCACCCCCAGCCCCGCTCACACCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	212	0.0047	30	c.173 others(49): Show c.1737+1002_1737+1003insCCCCGCTCACCCCCAGCCCCGCTCAC ACCT	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	401841	A A	ACCCCCGG others(23): Show ACCCCCGGCCCGCACACCCCGCCCCGCTCAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0027 a0001c0004t0001g0027	1	117	0.0085	30	c.173 others(49): Show c.1737+1140_1737+1141insCGGCCCGCACACCCCGCCCCGCTCAC CCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLA2G2D_chr1_20106939_20124536	20111920	C C	CTTATTTT others(23): Show CTTATTTTATTTTATTTTATTTTATTTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03098.hp2 NA18944.hp2 HG02976.hp2 HG03098.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0001 a0001c0001t0001g0013	3	134	0.0224	30	c.21 others(41): Show c.2193_*2194insAATAAAATAAAATAAAATAAAATAAAATAA	PLA2G2D	ENSG00000117215.15	transcript	ENST00000375105.8	protein_coding		18		chr1	TogoVar
PLA2G4A_chr1_186823949_186993981	186830608	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0169 a0002c0002t0001g0169	1	77	0.0130	30	c.-70 others(47): Show c.-70+1597_-70+1598insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLA2G4A_chr1_186823949_186993981	186934443	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03486.hp1 HG03130.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0214 a0001c0001t0001g0026 a0001c0001t0001g0214	2	102	0.0196	30	c.695 others(47): Show c.695+1565_695+1566insTATATATATATATATATATATATATATA TA	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLA2G4C_chr19_48042846_48115817	48055389	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0030 a0030	a0030c0049 a0030c0049	a0030c0049t0008 a0030c0049t0008	a0030c0049t0008g0178 a0030c0049t0008g0178	1	198	0.0051	30	c.125 others(47): Show c.1258-341_1258-340insTATATATATATATATATATATATATATA TA	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	14/16			chr19	TogoVar
PLAAT3_chr11_63569462_63619433	63615044	A A	ATATATAT others(23): Show ATATATATATATATATATGTATGTATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	243	0.0041	30	c.-71 others(39): Show c.-715_-714insCATATATACATACATATATATATATATATA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		612		chr11	TogoVar
PLAGL1_chr6_143935300_144013259	143943031	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp2 HG04228.hp2 HG03654.hp1 HG03654.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0117 a0001c0001t0001g0306 a0001c0001t0001g0307	3	12	0.2500	30	c.153 others(45): Show c.153-369_153-368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PLAGL1	ENSG00000118495.21	transcript	ENST00000674357.1	protein_coding	7/7			chr6	TogoVar
PLAGL1_chr6_143935300_144013259	143985982	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	75	0.0133	30	c.-58 others(47): Show c.-583-809_-583-808insTATATATATATATATATATATATATATA TA	PLAGL1	ENSG00000118495.21	transcript	ENST00000674357.1	protein_coding	1/7			chr6	TogoVar
PLAT_chr8_42169718_42212565	42194241	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	300	0.0033	30	c.-26 others(47): Show c.-26-1031_-26-1030insACACACTCTCTCTCTCTCTCTCTCTCTC TC	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	1/13			chr8	TogoVar
PLAT_chr8_42169718_42212565	42203992	T T	TATATATA others(23): Show TATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0310 a0001c0005t0004g0310	1	234	0.0043	30	c.-27 others(47): Show c.-27+3501_-27+3502insGTGTGTGTGTGTATATATATATATATAT AT	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	1/13			chr8	TogoVar
PLAT_chr8_42169718_42212565	42203992	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp2 HG02896.hp1 HG02630.hp2 HG02809.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0307 a0001c0002t0001g0308 a0001c0002t0003g0322 a0001c0001t0001g0307 a0001c0002t0001g0308 a0001c0002t0003g0322	3	236	0.0127	30	c.-27 others(47): Show c.-27+3501_-27+3502insGTGTGTGTGTATATATATATATATATAT AT	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	1/13			chr8	TogoVar

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