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
PCNX1_chr14_70902459_71120382	70910067	T T	TCCTCCCC others(23): Show TCCTCCCCCTCCTCCCCCTCCTCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03688.hp1 HG02886.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0040 a0001c0014t0004 a0001c0001t0040 a0001c0014t0004	a0001c0001t0040g0005 a0001c0014t0004g0241 a0001c0001t0040g0005 a0001c0014t0004g0241	2	333	0.0060	30	c.153 others(47): Show c.153+2069_153+2070insCCCTCCTCCCCCTCCTCCTCCTCCCCCT CC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910097	C C	CCCTCCTC others(23): Show CCCTCCTCCTCCCCCTCCTCCTCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0319 a0001c0002t0016g0319	1	274	0.0036	30	c.153 others(47): Show c.153+2112_153+2141dupTCCTCCTCCCCCTCCTCCTCCTCCCCCT CC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910115	T T	TCCTCCTC others(23): Show TCCTCCTCCCCCTCCTCCTCCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0256 a0001c0002t0018g0256	1	342	0.0029	30	c.153 others(47): Show c.153+2136_153+2165dupCCCTCCCCCTCCTCCCCCTCCTCCTCCT CC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910118	T T	TCCTCCTC others(23): Show TCCTCCTCCTCCTCCTCCCCCTCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	298	0.0034	30	c.153 others(47): Show c.153+2120_153+2121insTCCTCCTCCTCCCCCTCCTCCTCCCCCT CC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910148	T T	TCCCCCTC others(23): Show TCCCCCTCCTCCCCCTCCTCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02523.hp1 HG02056.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0157 a0001c0001t0008g0206 a0001c0001t0008g0157 a0001c0001t0008g0206	2	328	0.0061	30	c.153 others(47): Show c.153+2147_153+2148insCCCTCCTCCCCCTCCTCCCCCTCCTCCC CC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910171	C C	CTCCTCCT others(23): Show CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA19007.hp2 NA18979.hp1 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0009 a0001c0002t0007 a0001c0002t0009	a0001c0002t0007g0076 a0001c0002t0009g0075 a0001c0002t0007g0076 a0001c0002t0009g0075	2	349	0.0057	30	c.153 others(47): Show c.153+2197_153+2198insGTCCTCCTCCTCCTCCTCCTCCTCCTCC TC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910189	C C	CTCCTCCT others(23): Show CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0002 a0001c0002t0025g0002	1	315	0.0032	30	c.153 others(47): Show c.153+2203_153+2204insCTCCTCCTCCTCGTCCTCCTCCTCCTCC TC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70949282	T T	TACACACA others(23): Show TACACACACGTGTATGCACACACGTGTATAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00438.hp2 others(57): Show HG00280.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp2 HG01099.hp2 HG01175.hp2 HG01891.hp2 HG02056.hp2 HG02083.hp2 HG02132.hp2 HG02165.hp1 HG02273.hp2 HG02523.hp2 HG02647.hp1 HG02683.hp2 HG02922.hp1 HG02965.hp2 HG03831.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18942.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18967.hp1 NA18969.hp2 NA18972.hp1 NA18979.hp1 NA18981.hp1 NA18984.hp1 NA18988.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19057.hp1 NA19064.hp1 NA19065.hp1 NA19070.hp2 NA19079.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp2 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0008 a0001c0002 a0001c0004 a0001c0008	a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 others(9): Show a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0014 a0001c0002t0025 a0001c0002t0046 a0001c0002t0047 a0001c0004t0005 a0001c0004t0007 a0001c0004t0009 a0001c0004t0014 a0001c0008t0022	a0001c0002t0005g0001 a0001c0002t0005g0055 a0001c0002t0005g0056 others(56): Show a0001c0002t0005g0001 a0001c0002t0005g0055 a0001c0002t0005g0056 a0001c0002t0005g0057 a0001c0002t0005g0059 a0001c0002t0005g0065 a0001c0002t0005g0068 a0001c0002t0005g0069 a0001c0002t0005g0071 a0001c0002t0005g0077 a0001c0002t0005g0080 a0001c0002t0005g0086 a0001c0002t0005g0094 a0001c0002t0005g0098 a0001c0002t0005g0101 a0001c0002t0005g0102 a0001c0002t0007g0060 a0001c0002t0007g0061 a0001c0002t0007g0066 a0001c0002t0007g0076 a0001c0002t0007g0081 a0001c0002t0007g0091 a0001c0002t0007g0095 a0001c0002t0007g0096 a0001c0002t0007g0110 a0001c0002t0007g0121 a0001c0002t0009g0067 a0001c0002t0009g0070 a0001c0002t0009g0074 a0001c0002t0009g0075 a0001c0002t0009g0078 a0001c0002t0009g0079 a0001c0002t0009g0083 a0001c0002t0009g0084 a0001c0002t0009g0085 a0001c0002t0009g0097 a0001c0002t0009g0109 a0001c0002t0014g0062 a0001c0002t0014g0063 a0001c0002t0014g0064 a0001c0002t0014g0082 a0001c0002t0014g0099 a0001c0002t0025g0002 a0001c0002t0025g0058 a0001c0002t0046g0088 a0001c0002t0047g0111 a0001c0004t0005g0089 a0001c0004t0005g0090 a0001c0004t0005g0100 a0001c0004t0007g0103 a0001c0004t0007g0105 a0001c0004t0007g0107 a0001c0004t0009g0093 a0001c0004t0009g0104 a0001c0004t0009g0108 a0001c0004t0014g0087 a0001c0004t0014g0106 a0001c0008t0022g0072 a0001c0008t0022g0073	60	348	0.1724	30	c.362 others(47): Show c.362+2171_362+2172insATGCACACACGTGTATACACACACACGT GT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70994396	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01071.hp1 HG02523.hp1 others(3): Show HG00544.hp2 HG01071.hp1 HG02523.hp1 NA18946.hp1 NA18990.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0027 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0027 a0001c0001t0052	a0001c0001t0001g0182 a0001c0001t0008g0115 a0001c0001t0008g0206 others(3): Show a0001c0001t0001g0182 a0001c0001t0008g0115 a0001c0001t0008g0206 a0001c0001t0027g0191 a0001c0001t0027g0207 a0001c0001t0052g0211	6	72	0.0833	30	c.244 others(49): Show c.2445-1340_2445-1311dupATATATATATATATATATATATATAT ATAT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	7/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	71119428	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01952.hp1 HG02132.hp2 others(7): Show HG01106.hp1 HG01952.hp1 HG02132.hp2 HG02257.hp1 HG02486.hp1 HG02895.hp2 HG02897.hp1 NA18949.hp1 NA18954.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 others(4): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0014 a0001c0002t0019 a0001c0002t0078 a0001c0004t0014	a0001c0002t0003g0253 a0001c0002t0003g0296 a0001c0002t0003g0340 others(7): Show a0001c0002t0003g0253 a0001c0002t0003g0296 a0001c0002t0003g0340 a0001c0002t0005g0059 a0001c0002t0006g0267 a0001c0002t0006g0333 a0001c0002t0014g0064 a0001c0002t0019g0317 a0001c0002t0078g0281 a0001c0004t0014g0087	10	11	0.9091	30	c.94 others(41): Show c.9493_*9494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding		4047		chr14	TogoVar
PCOLCE2_chr3_142812874_142894083	142893993	A A	ATTATTAT others(23): Show ATTATTATTATTATTATTATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0083 a0001c0001t0004g0083	1	201	0.0050	30	c.-50 others(41): Show c.-5098_-5097insAAAAAAAAAAAATAATAATAATAATAATAA	PCOLCE2	ENSG00000163710.9	transcript	ENST00000295992.8	protein_coding		4911		chr3	TogoVar
PCOLCE2_chr3_142812874_142894083	142893993	A A	ATTATTAT others(23): Show ATTATTATTATTATTATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0094 a0001c0001t0004g0094	1	201	0.0050	30	c.-50 others(41): Show c.-5098_-5097insAAAAAAAAAAAAAAATAATAATAATAATAA	PCOLCE2	ENSG00000163710.9	transcript	ENST00000295992.8	protein_coding		4911		chr3	TogoVar
PCOLCE2_chr3_142812874_142894083	142893993	A A	ATTATTAT others(23): Show ATTATTATTATTATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 NA19058.hp2 HG02523.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0095 a0001c0001t0006g0093 a0001c0001t0004g0095 a0001c0001t0006g0093	2	202	0.0099	30	c.-50 others(41): Show c.-5098_-5097insAAAAAAAAAAAAAAAAAATAATAATAATAA	PCOLCE2	ENSG00000163710.9	transcript	ENST00000295992.8	protein_coding		4911		chr3	TogoVar
PCSK2_chr20_17222040_17489578	17333910	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01978.hp1 HG02148.hp1 others(9): Show HG00140.hp1 HG01978.hp1 HG02148.hp1 HG03831.hp2 NA18948.hp2 NA18970.hp2 NA18982.hp1 NA18983.hp2 NA18988.hp1 NA19000.hp2 NA19010.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0004t0024	a0001c0001t0001g0120 a0001c0001t0005g0083 a0001c0001t0005g0092 others(9): Show a0001c0001t0001g0120 a0001c0001t0005g0083 a0001c0001t0005g0092 a0001c0001t0005g0098 a0001c0001t0005g0101 a0001c0001t0007g0013 a0001c0001t0007g0110 a0001c0001t0008g0241 a0001c0001t0013g0121 a0001c0001t0015g0044 a0001c0001t0015g0160 a0001c0004t0024g0232	12	55	0.2182	30	c.283 others(49): Show c.283-24391_283-24390insATATATATATATATATATATATATAT ATAT	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK2_chr20_17222040_17489578	17484865	G G	GATAGAAT others(23): Show GATAGAATAGAATAGAATAGAATAGAATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00609.hp1 HG00642.hp1 others(22): Show HG00323.hp2 HG00609.hp1 HG00642.hp1 HG01070.hp2 HG01168.hp2 HG01256.hp2 HG01515.hp1 HG01517.hp2 HG02602.hp1 HG02698.hp2 HG02738.hp1 HG02818.hp1 HG02895.hp2 HG03139.hp1 HG03491.hp1 HG03704.hp1 HG06807.hp1 NA18951.hp1 NA18964.hp2 NA18994.hp1 NA19005.hp1 NA19005.hp2 NA19088.hp2 NA19090.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0032 a0001c0001t0035 a0001c0001t0052 a0001c0001t0058	a0001c0001t0001g0128 a0001c0001t0001g0169 a0001c0001t0002g0064 others(21): Show a0001c0001t0001g0128 a0001c0001t0001g0169 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0208 a0001c0001t0002g0253 a0001c0001t0002g0265 a0001c0001t0003g0143 a0001c0001t0003g0272 a0001c0001t0004g0146 a0001c0001t0004g0156 a0001c0001t0004g0187 a0001c0001t0006g0001 a0001c0001t0007g0107 a0001c0001t0008g0215 a0001c0001t0008g0245 a0001c0001t0016g0086 a0001c0001t0016g0087 a0001c0001t0017g0069 a0001c0001t0022g0054 a0001c0001t0032g0237 a0001c0001t0035g0218 a0001c0001t0052g0071 a0001c0001t0058g0075	25	55	0.4545	30	c.27 others(41): Show c.2795_*2796insATAGAATAGAATAGAATAGAATAGAATAGA	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding		288		chr20	TogoVar
PCSK2_chr20_17222040_17489578	17484865	G G	GATAGGAT others(23): Show GATAGGATAGAATAGAATAGAATAGAATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02559.hp1 HG02896.hp1 HG02055.hp1 HG02559.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0012 a0001c0009t0020 a0001c0001t0012 a0001c0009t0020	a0001c0001t0012g0131 a0001c0001t0012g0210 a0001c0009t0020g0189 a0001c0001t0012g0131 a0001c0001t0012g0210 a0001c0009t0020g0189	3	33	0.0909	30	c.27 others(41): Show c.2795_*2796insATAGGATAGAATAGAATAGAATAGAATAGA	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding		288		chr20	TogoVar
PCSK4_chr19_1476428_1495350	1493708	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02809.hp2 NA18975.hp1 others(3): Show HG02040.hp2 HG02809.hp2 NA18975.hp1 NA19066.hp2 NA19080.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0002g0002 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0002g0002 a0001c0001t0002g0019 a0001c0001t0002g0101	6	9	0.6667	30	c.-33 others(41): Show c.-3363_-3362insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PCSK4	ENSG00000115257.15	transcript	ENST00000300954.10	protein_coding		3359		chr19	TogoVar
PCSK4_chr19_1476428_1495350	1493708	G G	GACACACA others(23): Show GACACACACACACACCCACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	4	0.2500	30	c.-33 others(41): Show c.-3363_-3362insGTGTGTGTGTGTGTGGGTGTGTGTGTGTGT	PCSK4	ENSG00000115257.15	transcript	ENST00000300954.10	protein_coding		3359		chr19	TogoVar
PCSK5_chr9_75885673_76367975	76040385	G G	GTCTCTCT others(23): Show GTCTCTCTGTCTCTCTGTCTCTCTGTCTCTC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0044 a0044	a0044c0082 a0044c0082	a0044c0082t0001 a0044c0082t0001	a0044c0082t0001g0075 a0044c0082t0001g0075	1	146	0.0068	30	c.632 others(49): Show c.632+13355_632+13356insGTCTCTCTGTCTCTCTGTCTCTCTCT CTCT	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76040387	C C	CTCTCTGT others(23): Show CTCTCTGTCTCTCTGTCTCTCTGTCTCTCTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0033 a0033	a0033c0055 a0033c0055	a0033c0055t0010 a0033c0055t0010	a0033c0055t0010g0002 a0033c0055t0010g0002	1	85	0.0118	30	c.632 others(49): Show c.632+13355_632+13356insGTCTCTCTGTCTCTCTGTCTCTCTGT CTCT	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK6_chr15_101298933_101494707	101412691	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02630.hp2 HG02647.hp1 others(2): Show HG01261.hp1 HG02630.hp2 HG02647.hp1 HG02738.hp2 HG02970.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0003 a0001c0009 a0001c0036 others(2): Show a0001c0003 a0001c0009 a0001c0036 a0002c0018 a0006c0029	a0001c0003t0001 a0001c0009t0001 a0001c0036t0001 others(2): Show a0001c0003t0001 a0001c0009t0001 a0001c0036t0001 a0002c0018t0014 a0006c0029t0001	a0001c0003t0001g0044 a0001c0009t0001g0155 a0001c0036t0001g0095 others(2): Show a0001c0003t0001g0044 a0001c0009t0001g0155 a0001c0036t0001g0095 a0002c0018t0014g0032 a0006c0029t0001g0006	5	264	0.0189	30	c.824 others(49): Show c.824-14116_824-14115insTATATATATATATATATATATATATA TATA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	6/21			chr15	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01928.hp2 HG01993.hp2 others(24): Show HG00408.hp1 HG01928.hp2 HG01993.hp2 HG02071.hp2 HG02083.hp2 HG02132.hp1 HG02523.hp1 HG03669.hp2 HG03834.hp1 NA18939.hp1 NA18948.hp1 NA18962.hp1 NA18964.hp1 NA18980.hp2 NA18981.hp2 NA18994.hp1 NA19000.hp1 NA19003.hp2 NA19057.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007	a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0058 others(22): Show a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0058 a0001c0001t0002g0130 a0001c0001t0002g0152 a0001c0001t0002g0160 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0246 a0001c0001t0002g0296 a0001c0001t0002g0299 a0001c0001t0002g0310 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0358 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0399 a0001c0001t0002g0400 a0001c0001t0002g0401 a0001c0001t0002g0402 a0001c0001t0003g0161 a0001c0001t0004g0312 a0001c0001t0007g0311	27	193	0.1399	30	c.153 others(49): Show c.1534+3085_1534+3086insTATATATATATATACACACACACACA CACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18949.hp1 HG04199.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0159 a0001c0001t0007g0309 a0001c0001t0002g0159 a0001c0001t0007g0309	2	168	0.0119	30	c.153 others(49): Show c.1534+3085_1534+3086insTATATATATATACACACACACACACA CACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0264 a0001c0012t0002g0264	1	167	0.0060	30	c.153 others(49): Show c.1534+3085_1534+3086insTATATATACACACACACACACACACA CACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0019 a0001c0023t0019	a0001c0023t0019g0385 a0001c0023t0019g0385	1	167	0.0060	30	c.153 others(49): Show c.1534+3085_1534+3086insTATACACACACACACACACACACACA CACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0088 a0001c0002t0088	a0001c0002t0088g0194 a0001c0002t0088g0194	1	119	0.0084	30	c.117 others(47): Show c.117+9497_117+9498insATATATATATATATATATATATATTTTT TT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PC_chr11_66843420_66963383	66959935	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	167	0.0060	30	c.-18 others(41): Show c.-1842_-1841insAAAAAAAAAAAATATATATATATATATATA	PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding		1553		chr11	TogoVar
PDCD6_chr5_266646_319974	309820	T T	TCCCCCGT others(23): Show TCCCCCGTGCACCCCAGTGATGGCCGCCGTC	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0206 a0001c0001t0006g0206	1	357	0.0028	30	c.368 others(47): Show c.368-1469_368-1468insCGTGCACCCCAGTGATGGCCGCCGTCCC CC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDC_chr1_186438566_186466114	186459752	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	90	0.0111	30	c.-25 others(47): Show c.-25+1306_-25+1307insTATATATATATATATATATATATATATA TA	PDC	ENSG00000116703.14	transcript	ENST00000391997.3	protein_coding	1/3			chr1	TogoVar
PDE10A_chr6_165322289_165668241	165618974	G G	GTAGACTA others(23): Show GTAGACTAGTGTAGTGTAGTGTAGTGTAGTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01081.hp1 others(16): Show HG00639.hp2 HG00738.hp2 HG01081.hp1 HG01099.hp1 HG01257.hp2 HG01515.hp2 HG01516.hp2 HG02165.hp1 HG02257.hp1 HG02523.hp2 HG02735.hp1 HG03017.hp2 HG03239.hp1 HG03688.hp1 NA18951.hp2 NA18989.hp2 NA19090.hp2 NA20805.hp2 NA20905.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0022 a0005c0016 a0006c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0019 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0003 a0001c0004t0012 a0001c0022t0006 a0005c0016t0001 a0006c0017t0003	a0001c0001t0001g0065 a0001c0001t0001g0099 a0001c0001t0003g0012 others(16): Show a0001c0001t0001g0065 a0001c0001t0001g0099 a0001c0001t0003g0012 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0116 a0001c0001t0010g0161 a0001c0001t0019g0090 a0001c0002t0001g0059 a0001c0002t0001g0120 a0001c0002t0001g0176 a0001c0002t0004g0062 a0001c0003t0001g0103 a0001c0003t0001g0137 a0001c0003t0003g0104 a0001c0004t0012g0031 a0001c0022t0006g0096 a0005c0016t0001g0001 a0006c0017t0003g0002	19	214	0.0888	30	c.865 others(49): Show c.865+42972_865+42973insTACTACACTACACTACACTACACTAG TCTA	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PDE11A_chr2_177618244_178077777	177819860	T T	TTCTCTTT others(23): Show TTCTCTTTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02965.hp1 HG03654.hp2 HG02258.hp1 HG02965.hp1 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0035 a0002c0002t0001 a0002c0002t0035	a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0035g0021 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0035g0021	3	85	0.0353	30	c.157 others(47): Show c.1576+359_1576+360insGAGAGAGAGAGAGAGAGAGAGAGAAAGA GA	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	7/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177944803	G G	GCTCTCCC others(23): Show GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0142 a0002c0004t0001g0142	1	76	0.0132	30	c.107 others(51): Show c.1072-39646_1072-39617dupGGAGAGGGAGAGGGAGAGGGAGAG GGAGAG	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177944822	C C	CTCTCCCT others(23): Show CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0028 a0002c0004t0028	a0002c0004t0028g0106 a0002c0004t0028g0106	1	163	0.0061	30	c.107 others(51): Show c.1072-39636_1072-39635insCGGAGAGGGAGAGGGAGAGGGAGA GGGAGA	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDE1A_chr2_182135041_182432036	182242926	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0193 a0001c0001t0003g0193	1	191	0.0052	30	c.168 others(47): Show c.168-2635_168-2634insACACACACACACACACACGAGAGAGAGA GA	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	2/14			chr2	TogoVar
PDE1A_chr2_182135041_182432036	182264878	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG01071.hp1 others(19): Show HG00140.hp2 HG00323.hp1 HG01071.hp1 HG01109.hp1 HG01169.hp2 HG01934.hp1 HG02451.hp2 HG02572.hp2 HG02735.hp2 HG02970.hp1 HG03490.hp2 HG03579.hp2 HG03669.hp2 HG03834.hp2 NA18522.hp2 NA18939.hp1 NA18966.hp2 NA19009.hp1 NA19043.hp1 NA19057.hp2 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0025 a0001c0001t0035	a0001c0001t0001g0134 a0001c0001t0001g0172 a0001c0001t0001g0173 others(19): Show a0001c0001t0001g0134 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0003g0015 a0001c0001t0003g0048 a0001c0001t0003g0202 a0001c0001t0004g0120 a0001c0001t0004g0227 a0001c0001t0006g0175 a0001c0001t0007g0226 a0001c0001t0008g0261 a0001c0001t0009g0035 a0001c0001t0012g0158 a0001c0001t0013g0104 a0001c0001t0016g0169 a0001c0001t0017g0144 a0001c0001t0019g0038 a0001c0001t0025g0013 a0001c0001t0025g0045 a0001c0001t0035g0230	22	86	0.2558	30	c.54- others(43): Show c.54-465_54-464insATATATATATATATATATATATATATATAT	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE1A_chr2_182135041_182432036	182385704	G G	GCTCTCCC others(23): Show GCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02622.hp2 NA19075.hp2 HG00099.hp2 HG02622.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0040 a0001c0001t0002g0080 a0001c0001t0007g0031 a0001c0001t0002g0040 a0001c0001t0002g0080 a0001c0001t0007g0031	3	38	0.0789	30	c.53+ others(47): Show c.53+40844_53+40873dupGAGGGAGAGGGAGAGGAGGGAGAGGGAG AG	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE3B_chr11_14638804_14877044	14749899	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG01074.hp1 others(34): Show HG00408.hp1 HG00438.hp1 HG01074.hp1 HG01169.hp1 HG01175.hp1 HG01261.hp1 HG01975.hp1 HG02055.hp1 HG02074.hp1 HG02083.hp2 HG02572.hp1 HG02698.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03491.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18955.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18991.hp2 NA19009.hp2 NA19060.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0015	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0002g0058 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0009g0128 a0001c0001t0015g0274	37	119	0.3109	30	c.979 others(49): Show c.979-22024_979-22023insATATATATATATATATATATATATAT ATAT	PDE3B	ENSG00000152270.9	transcript	ENST00000282096.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
PDE4B_chr1_65787895_66379574	66345194	C C	CTTGTTCT others(23): Show CTTGTTCTCTTTGCTCAAAAGTTGAGCAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02165.hp2 NA18940.hp1 others(1): Show HG01109.hp1 HG02165.hp2 NA18940.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004	a0001c0001t0003g0001 a0001c0002t0001g0008 a0001c0002t0001g0010 others(1): Show a0001c0001t0003g0001 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0004g0040	4	118	0.0339	30	c.748 others(49): Show c.748-10307_748-10278dupCAAAGTTGTTCTCTTTGCTCAAAAGT TGAG	PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4D_chr5_58964038_59898726	59079838	G G	GGGAGAGG others(23): Show GGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	63	0.0159	30	c.809 others(49): Show c.809-40868_809-40867insTCTCCTCTCCTCTCCTCTCCTCTCCT CTCC	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	5/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59171996	A A	ATATTTAT others(23): Show ATATTTATATAATAAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0013 a0001c0001t0009g0013	1	63	0.0159	30	c.808 others(47): Show c.808+8598_808+8599insAATATATATTATATATTTATTATATAAA TA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	5/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59172018	A A	ATATTTAT others(23): Show ATATTTATATAATAAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02723.hp2 HG02622.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0045 a0001c0001t0011g0010 a0001c0001t0003g0045 a0001c0001t0011g0010	2	65	0.0308	30	c.808 others(47): Show c.808+8576_808+8577insAATATATATTATATATTTATTATATAAA TA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	5/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59200109	A A	ACACATAC others(23): Show ACACATACATGCATGTAGACATACATGTATG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	74	0.0135	30	c.648 others(47): Show c.648-6574_648-6573insCATACATGTATGTCTACATGCATGTATG TG	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	2/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59762533	C C	CATATGTG others(23): Show CATATGTGTATATGTGTATATGGGTACACAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01361.hp1 HG01169.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0063 a0001c0001t0001g0034 a0001c0001t0001g0063	2	44	0.0455	30	c.455 others(51): Show c.455+130634_455+130635insATGTGTACCCATATACACATATAC ACATAT	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14			chr5	TogoVar
PDE5A_chr4_119489403_119633804	119632087	G G	GAGATATA others(23): Show GAGATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0012 a0002c0005t0012	a0002c0005t0012g0152 a0002c0005t0012g0152	1	23	0.0435	30	c.-34 others(41): Show c.-3417_-3416insATATATATATATATATATATATATATATCT	PDE5A	ENSG00000138735.16	transcript	ENST00000354960.8	protein_coding		3284		chr4	TogoVar
PDE5A_chr4_119489403_119633804	119632087	G G	GATAGATA others(23): Show GATAGATAGATATAGATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0007 a0004c0007t0007	a0004c0007t0007g0041 a0004c0007t0007g0041	1	23	0.0435	30	c.-34 others(41): Show c.-3417_-3416insATATATATATATATATCTATATCTATCTAT	PDE5A	ENSG00000138735.16	transcript	ENST00000354960.8	protein_coding		3284		chr4	TogoVar
PDE5A_chr4_119489403_119633804	119632087	G G	GATAGATA others(23): Show GATAGATATATATATACATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02886.hp2 HG03540.hp2 HG02818.hp2 HG02886.hp2 HG03540.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0018 a0002c0003t0015g0019 a0002c0003t0015g0020 a0002c0003t0015g0018 a0002c0003t0015g0019 a0002c0003t0015g0020	3	25	0.1200	30	c.-34 others(41): Show c.-3417_-3416insATATATATATATATGTATATATATATCTAT	PDE5A	ENSG00000138735.16	transcript	ENST00000354960.8	protein_coding		3284		chr4	TogoVar
PDE5A_chr4_119489403_119633804	119632087	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01515.hp2 HG01517.hp2 others(10): Show HG01123.hp2 HG01515.hp2 HG01517.hp2 HG02015.hp2 HG02148.hp2 HG02280.hp2 HG02602.hp1 HG02698.hp2 HG02896.hp2 HG03041.hp2 HG03453.hp2 HG04115.hp1 NA18957.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0021 a0002c0003t0003 a0002c0003t0019 a0003c0004t0008	a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0206 others(10): Show a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0206 a0001c0001t0001g0243 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0002g0301 a0001c0001t0006g0299 a0001c0001t0021g0307 a0002c0003t0003g0271 a0002c0003t0003g0273 a0002c0003t0019g0281 a0003c0004t0008g0158	13	35	0.3714	30	c.-34 others(41): Show c.-3417_-3416insATATATATATATATATATATATATATATAT	PDE5A	ENSG00000138735.16	transcript	ENST00000354960.8	protein_coding		3284		chr4	TogoVar
PDE6A_chr5_149852953_149949793	149900375	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG01346.hp2 others(1): Show HG00423.hp1 HG00558.hp1 HG01346.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0003g0093 others(1): Show a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0003g0093 a0001c0002t0002g0257	4	11	0.3636	30	c.111 others(47): Show c.1114-852_1114-851insTATATATATATATATATATATATATATA TA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	8/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149900375	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	8	0.1250	30	c.111 others(47): Show c.1114-852_1114-851insTATATATATATATATATATATATATATA CA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	8/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149900385	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	323	0.0031	30	c.111 others(47): Show c.1114-862_1114-861insCATATATATATATATATATATATATATA TA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	8/21			chr5	TogoVar

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