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
PDE1A_chr2_182135041_182432036	182385640	G G	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0248 a0001c0001t0024g0248	1	264	0.0038	21	c.53+ others(38): Show c.53+40937_53+40938insTCTTTCTTTCTTTCTTTCTTT	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE1A_chr2_182135041_182432036	182403598	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	264	0.0038	21	c.53+ others(38): Show c.53+22979_53+22980insTTTTTTTTTTTTTTTTTTTTT	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE3A_chr12_20363537_20693583	20612686	A A	ATATATAA others(14): Show ATATATAAGTAATATAGTTACT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp2 HG02055.hp2 others(22): Show HG01243.hp2 HG01255.hp2 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02486.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02818.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG06807.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0008 a0010	a0001c0001 a0001c0003 a0001c0013 others(7): Show a0001c0001 a0001c0003 a0001c0013 a0002c0002 a0002c0004 a0003c0011 a0004c0009 a0006c0019 a0008c0015 a0010c0016	a0001c0001t0063 a0001c0001t0064 a0001c0001t0094 others(22): Show a0001c0001t0063 a0001c0001t0064 a0001c0001t0094 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0003t0037 a0001c0003t0048 a0001c0003t0058 a0001c0003t0077 a0001c0003t0095 a0001c0013t0122 a0002c0002t0109 a0002c0002t0112 a0002c0002t0124 a0002c0002t0127 a0002c0002t0140 a0002c0002t0141 a0002c0004t0135 a0003c0011t0129 a0004c0009t0116 a0006c0019t0099 a0008c0015t0001 a0010c0016t0008	a0001c0001t0063g0057 a0001c0001t0064g0040 a0001c0001t0094g0122 others(22): Show a0001c0001t0063g0057 a0001c0001t0064g0040 a0001c0001t0094g0122 a0001c0001t0144g0145 a0001c0001t0145g0097 a0001c0001t0146g0054 a0001c0001t0147g0083 a0001c0003t0037g0183 a0001c0003t0048g0103 a0001c0003t0058g0113 a0001c0003t0077g0015 a0001c0003t0095g0076 a0001c0013t0122g0182 a0002c0002t0109g0120 a0002c0002t0112g0168 a0002c0002t0124g0017 a0002c0002t0127g0147 a0002c0002t0140g0035 a0002c0002t0141g0059 a0002c0004t0135g0186 a0003c0011t0129g0038 a0004c0009t0116g0071 a0006c0019t0099g0188 a0008c0015t0001g0036 a0010c0016t0008g0037	25	198	0.1263	21	c.101 others(38): Show c.1012-743_1012-723dupTAGTTACTTATATAAGTAATA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE4B_chr1_65787895_66379574	65924077	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp1 HG02257.hp1 others(4): Show HG01099.hp1 HG01192.hp1 HG02257.hp1 HG02965.hp1 HG03098.hp2 HG03453.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0002t0004	a0001c0001t0001g0084 a0001c0001t0001g0115 a0001c0001t0003g0077 others(4): Show a0001c0001t0001g0084 a0001c0001t0001g0115 a0001c0001t0003g0077 a0001c0001t0006g0054 a0001c0001t0007g0079 a0001c0001t0017g0053 a0001c0002t0004g0039	7	118	0.0593	21	c.281 others(38): Show c.281+5257_281+5258insTTTTTTTTTTTTTTTTTTTTT	PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4B_chr1_65787895_66379574	66090616	A A	ATATGTGT others(14): Show ATATGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03579.hp1 HG02559.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0080 a0001c0001t0016g0034 a0001c0001t0002g0080 a0001c0001t0016g0034	2	118	0.0170	21	c.282 others(42): Show c.282-156844_282-156843insTATGTGTGTGTGTGTGTGTGT	PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16			chr1	TogoVar
PDE4B_chr1_65787895_66379574	66090616	A A	ATGTGTGT others(14): Show ATGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03041.hp1 HG02145.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0073 a0001c0001t0005g0032 a0001c0001t0001g0073 a0001c0001t0005g0032	2	118	0.0170	21	c.282 others(42): Show c.282-156844_282-156843insTGTGTGTGTGTGTGTGTGTGT	PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16			chr1	TogoVar
PDE4D_chr5_58964038_59898726	59079666	T T	TTAATAAT others(14): Show TTAATAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0027 a0001c0001t0020g0027	1	74	0.0135	21	c.809 others(40): Show c.809-40716_809-40696dupTTATTATTATTATTATTATTA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	5/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59181571	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	74	0.0135	21	c.759 others(36): Show c.759-928_759-927insTATATATATATATATATATAT	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	4/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59649902	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	74	0.0135	21	c.455 others(42): Show c.455+243265_455+243266insAAAAAAAAAAAAAAAAAAAAA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59649904	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03471.hp2 HG03225.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0020 a0001c0001t0003 a0001c0001t0020	a0001c0001t0003g0072 a0001c0001t0020g0027 a0001c0001t0003g0072 a0001c0001t0020g0027	2	74	0.0270	21	c.455 others(42): Show c.455+243263_455+243264insAAAAAAAAAAAAAAAAAAAAA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59771495	G G	GAAGAAAG others(14): Show GAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0059 a0001c0001t0019g0059	1	74	0.0135	21	c.455 others(42): Show c.455+121672_455+121673insTTCTTTCTTTCTTTCTTTCTT	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149889081	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03209.hp2 HG03453.hp2 others(1): Show HG01243.hp1 HG03209.hp2 HG03453.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0012	a0001c0001t0016 a0001c0002t0078 a0001c0004t0006 others(1): Show a0001c0001t0016 a0001c0002t0078 a0001c0004t0006 a0002c0012t0006	a0001c0001t0016g0050 a0001c0002t0078g0269 a0001c0004t0006g0180 others(1): Show a0001c0001t0016g0050 a0001c0002t0078g0269 a0001c0004t0006g0180 a0002c0012t0006g0218	4	328	0.0122	21	c.172 others(40): Show c.1729-2708_1729-2707insTTTTTTTTTTTTTTTTTTTTT	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	13/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149906519	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00558.hp2 others(22): Show HG00280.hp2 HG00323.hp1 HG00558.hp2 HG01069.hp2 HG01167.hp2 HG01515.hp2 HG01884.hp2 HG02004.hp2 HG02451.hp1 HG02698.hp2 HG02735.hp2 HG02886.hp2 HG03453.hp2 HG03704.hp2 NA18906.hp2 NA18942.hp2 NA18963.hp1 NA18973.hp2 NA18979.hp2 NA19007.hp2 NA19011.hp1 NA19064.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0014c0027	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0059 a0001c0001t0062 a0001c0001t0070 a0001c0001t0082 a0001c0002t0011 a0001c0002t0078 a0001c0004t0006 a0001c0004t0018 a0014c0027t0052	a0001c0001t0001g0055 a0001c0001t0001g0137 a0001c0001t0001g0139 others(22): Show a0001c0001t0001g0055 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0150 a0001c0001t0001g0172 a0001c0001t0001g0197 a0001c0001t0003g0184 a0001c0001t0004g0043 a0001c0001t0004g0120 a0001c0001t0004g0148 a0001c0001t0005g0009 a0001c0001t0005g0167 a0001c0001t0005g0171 a0001c0001t0007g0128 a0001c0001t0008g0123 a0001c0001t0014g0130 a0001c0001t0059g0118 a0001c0001t0062g0129 a0001c0001t0070g0151 a0001c0001t0082g0121 a0001c0002t0011g0306 a0001c0002t0078g0269 a0001c0004t0006g0132 a0001c0004t0018g0108 a0014c0027t0052g0192	25	328	0.0762	21	c.106 others(38): Show c.1065+792_1065+793insTTTTTTTTTTTTTTTTTTTTT	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	7/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	328	0.0031	21	c.858 others(38): Show c.858+2796_858+2797insAAAAAAAAAAATATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18973.hp2 NA20300.hp1 HG02723.hp1 NA18973.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0005 a0001c0008t0006 a0001c0008t0019 a0001c0001t0005 a0001c0008t0006 a0001c0008t0019	a0001c0001t0005g0009 a0001c0008t0006g0251 a0001c0008t0019g0243 a0001c0001t0005g0009 a0001c0008t0006g0251 a0001c0008t0019g0243	3	328	0.0092	21	c.858 others(38): Show c.858+2796_858+2797insAAAAAAAAAAAAATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03130.hp2 HG03516.hp1 others(2): Show HG01884.hp2 HG03130.hp2 HG03516.hp1 NA19086.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0011 a0001c0002t0021 a0001c0002t0035 others(2): Show a0001c0001t0011 a0001c0002t0021 a0001c0002t0035 a0001c0002t0069 a0001c0004t0018	a0001c0001t0011g0106 a0001c0002t0021g0258 a0001c0002t0035g0307 others(2): Show a0001c0001t0011g0106 a0001c0002t0021g0258 a0001c0002t0035g0307 a0001c0002t0069g0259 a0001c0004t0018g0108	5	328	0.0152	21	c.858 others(38): Show c.858+2796_858+2797insAAAAAAAAAAAAAAATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATTT others(14): Show ATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0107 a0001c0001t0073g0107	1	328	0.0031	21	c.858 others(38): Show c.858+2796_858+2797insAAAAAAAAAAAAAAAAATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6B_chr4_620573_675782	642725	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0271 a0002c0003t0005g0271	1	308	0.0033	21	c.711 others(38): Show c.711+6761_711+6781dupAAAAAAAAAAAAAAAAAAAAA	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6C_chr10_93607537_93671010	93654802	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	384	0.0026	21	c.193 others(38): Show c.1936-947_1936-946insCTTTCTTTCTTTTCTTTCTTT	PDE6C	ENSG00000095464.10	transcript	ENST00000371447.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDE6H_chr12_14968042_14986865	14982038	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03669.hp2 NA18976.hp1 HG03492.hp1 HG03669.hp2 NA18976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0012 a0001c0002t0002g0024 a0001c0001t0002g0012 a0001c0002t0002g0024	3	448	0.0067	21	c.56 others(30): Show c.562_*563insTTTTTTTTTTTTTTTTTTTTT	PDE6H	ENSG00000139053.3	transcript	ENST00000266395.3	protein_coding		174		chr12	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA19056.hp2 NA18956.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0058 a0001c0001t0040 a0001c0001t0058	a0001c0001t0040g0033 a0001c0001t0058g0070 a0001c0001t0040g0033 a0001c0001t0058g0070	2	248	0.0081	21	c.139 others(40): Show c.139-15364_139-15363insATATATATATATATATATATA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12			chr8	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	248	0.0040	21	c.139 others(40): Show c.139-15364_139-15363insAAAAAAATATATATATATATA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12			chr8	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0008 a0001c0001t0024g0008	1	248	0.0040	21	c.139 others(40): Show c.139-15364_139-15363insAAAAAAAAATATATATATATA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12			chr8	TogoVar
PDE7A_chr8_65709334_65847064	65841963	G G	GGCCGCCG others(14): Show GGCCGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0245 a0001c0001t0091g0245	1	248	0.0040	21	c.-47 others(30): Show c.-476_-456dupGGCGGCGGCGGCGGCGGCGGC	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/13	456		chr8	TogoVar
PDE7B_chr6_135846701_136200574	135906813	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA18906.hp1 HG00642.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0107 a0001c0001t0002g0007 a0001c0001t0001g0107 a0001c0001t0002g0007	2	142	0.0141	21	c.22- others(38): Show c.22-40631_22-40630insGTTTTTTTTTTTTTTTTTTTT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	135906827	T T	TTTTTTTG others(14): Show TTTTTTTGTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	142	0.0070	21	c.22- others(38): Show c.22-40631_22-40630insGTTTTTTTTTTTTTGTTTTTT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE8A_chr15_84976856_85144142	85119468	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00741.hp2 others(28): Show HG00597.hp2 HG00621.hp1 HG00741.hp2 HG01099.hp2 HG01255.hp2 HG01258.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01952.hp2 HG02056.hp1 HG02080.hp2 HG02109.hp1 HG02572.hp2 HG02738.hp1 HG02976.hp2 HG03098.hp1 NA18948.hp2 NA18952.hp2 NA18955.hp1 NA18966.hp1 NA18969.hp1 NA18988.hp2 NA18990.hp1 NA18995.hp2 NA19004.hp2 NA19058.hp2 NA19062.hp1 NA19066.hp1 NA19085.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0010	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0005c0007 a0010c0011	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0005c0007t0001 a0010c0011t0001	a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0047 others(28): Show a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0172 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0214 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0293 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0323 a0001c0002t0001g0326 a0002c0003t0001g0207 a0002c0003t0001g0251 a0005c0007t0001g0217 a0010c0011t0001g0279	31	344	0.0901	21	c.173 others(40): Show c.1735-1316_1735-1315insAAAAAAAAAAAAAAAAAAAAA	PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDE8B_chr5_77205680_77433256	77397026	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02976.hp1 HG01081.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0037 a0001c0001t0003 a0001c0001t0037	a0001c0001t0003g0181 a0001c0001t0037g0026 a0001c0001t0003g0181 a0001c0001t0037g0026	2	314	0.0064	21	c.116 others(40): Show c.1168-3218_1168-3198dupTTTTTTTTTTTTTTTTTTTTT	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE9A_chr21_42648621_42780509	42653539	A A	AGGGGGGA others(14): Show AGGGGGGAGGGGGAGGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG03130.hp2 NA21309.hp1 others(1): Show HG02486.hp2 HG03130.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0300 a0001c0001t0004g0306 a0001c0001t0005g0304 others(1): Show a0001c0001t0001g0300 a0001c0001t0004g0306 a0001c0001t0005g0304 a0001c0002t0001g0305	4	324	0.0124	21	c.-27 others(30): Show c.-276_-275insGGGGGGAGGGGGAGGGGGGAG	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding		81		chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA19088.hp1 HG01074.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0139 a0001c0002t0001g0055 a0001c0001t0002g0139 a0001c0002t0001g0055	2	324	0.0062	21	c.263 others(38): Show c.263-5145_263-5144insATATATATATTTTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0165 a0001c0002t0001g0165	1	324	0.0031	21	c.263 others(38): Show c.263-5145_263-5144insATATATATTTTTTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	324	0.0031	21	c.263 others(38): Show c.263-5145_263-5144insATATATTTTTTTTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATTT others(14): Show ATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19030.hp2 HG02559.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0005 a0001c0002t0001 a0001c0005t0005	a0001c0002t0001g0309 a0001c0005t0005g0236 a0001c0002t0001g0309 a0001c0005t0005g0236	2	324	0.0062	21	c.263 others(38): Show c.263-5145_263-5144insATATTTTTTTTTTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42750528	C C	CATTAGAA others(14): Show CATTAGAAAAAGGTTTTTTAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(232): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp2 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0010 a0001c0014 a0002c0007 a0004c0012 a0005c0013 a0006c0011 a0007c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0009t0004 a0001c0010t0001 a0001c0014t0003 a0002c0007t0001 a0004c0012t0004 a0005c0013t0001 a0006c0011t0001 a0007c0015t0001	a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0044 others(231): Show a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0300 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0002g0037 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0064 a0001c0001t0002g0069 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0102 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0127 a0001c0001t0002g0139 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0241 a0001c0001t0002g0291 a0001c0001t0002g0298 a0001c0001t0003g0005 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0004g0238 a0001c0001t0006g0299 a0001c0001t0007g0093 a0001c0001t0008g0297 a0001c0001t0009g0212 a0001c0002t0001g0004 a0001c0002t0001g0039 a0001c0002t0001g0042 a0001c0002t0001g0045 a0001c0002t0001g0067 a0001c0002t0001g0131 a0001c0002t0001g0148 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0161 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0181 a0001c0002t0001g0190 a0001c0002t0001g0196 a0001c0002t0001g0205 a0001c0002t0001g0218 a0001c0002t0001g0220 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0267 a0001c0002t0001g0270 a0001c0002t0001g0289 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0320 a0001c0002t0002g0035 a0001c0002t0002g0054 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0117 a0001c0002t0002g0128 a0001c0002t0002g0290 a0001c0002t0002g0292 a0001c0002t0002g0295 a0001c0002t0002g0302 a0001c0002t0003g0016 a0001c0002t0003g0028 a0001c0002t0005g0261 a0001c0002t0007g0293 a0001c0003t0001g0012 a0001c0003t0001g0040 a0001c0003t0001g0043 a0001c0003t0001g0056 a0001c0003t0001g0063 a0001c0003t0001g0068 a0001c0003t0001g0079 a0001c0003t0001g0083 a0001c0003t0001g0089 a0001c0003t0001g0091 a0001c0003t0001g0095 a0001c0003t0001g0098 a0001c0003t0001g0125 a0001c0003t0001g0134 a0001c0003t0001g0144 a0001c0003t0001g0152 a0001c0003t0001g0160 a0001c0003t0001g0162 a0001c0003t0001g0186 a0001c0003t0001g0189 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0195 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0206 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0215 a0001c0003t0001g0217 a0001c0003t0001g0223 a0001c0003t0001g0226 a0001c0003t0001g0228 a0001c0003t0001g0252 a0001c0003t0001g0266 a0001c0003t0001g0278 a0001c0003t0001g0283 a0001c0003t0001g0319 a0001c0003t0002g0002 a0001c0003t0002g0032 a0001c0003t0002g0036 a0001c0003t0002g0059 a0001c0003t0002g0060 a0001c0003t0002g0086 a0001c0003t0002g0088 a0001c0003t0002g0113 a0001c0003t0002g0130 a0001c0003t0002g0132 a0001c0003t0002g0142 a0001c0003t0003g0011 a0001c0003t0003g0017 a0001c0003t0003g0018 a0001c0003t0003g0022 a0001c0003t0003g0023 a0001c0003t0003g0030 a0001c0004t0001g0053 a0001c0004t0001g0082 a0001c0004t0001g0140 a0001c0004t0001g0159 a0001c0004t0002g0133 a0001c0006t0001g0153 a0001c0006t0001g0154 a0001c0009t0004g0243 a0001c0010t0001g0232 a0001c0014t0003g0025 a0002c0007t0001g0172 a0002c0007t0001g0288 a0004c0012t0004g0259 a0005c0013t0001g0253 a0006c0011t0001g0094 a0007c0015t0001g0248	235	324	0.7253	21	c.654 others(36): Show c.654-587_654-586insTTAGAAAAAGGTTTTTTAGAA	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42767507	A A	ATCCACCA others(14): Show ATCCACCAAGCATCATGCAGAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03471.hp2 NA19030.hp2 HG02886.hp2 HG03471.hp2 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0005 a0001c0005t0001 a0001c0005t0005	a0001c0005t0001g0169 a0001c0005t0001g0268 a0001c0005t0005g0236 a0001c0005t0001g0169 a0001c0005t0001g0268 a0001c0005t0005g0236	3	324	0.0093	21	c.135 others(38): Show c.1357-677_1357-657dupACCAAGCATCATGCAGACTCC	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFA_chr7_492258_524846	494651	T T	TGGGGGAT others(14): Show TGGGGGATCTGTGAGGGGGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0064 a0001c0002t0064	a0001c0002t0064g0025 a0001c0002t0064g0025	1	302	0.0033	21	c.39 others(32): Show c.3912_*3913insCGTCCCCCTCACAGATCCCCC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding		2606		chr7	TogoVar
PDGFA_chr7_492258_524846	499720	T T	TCCCCCCC others(14): Show TCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0084 a0001c0001t0016g0084	1	302	0.0033	21	c.581 others(38): Show c.581-1147_581-1146insGGGGGGGGGGGGGGGGGGGGG	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	5/5			chr7	TogoVar
PDGFC_chr4_156755454_156976799	156851930	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0029 a0001c0001t0004 a0001c0003t0029	a0001c0001t0004g0127 a0001c0001t0004g0129 a0001c0003t0029g0177 a0001c0001t0004g0127 a0001c0001t0004g0129 a0001c0003t0029g0177	3	208	0.0144	21	c.119 others(38): Show c.119-1535_119-1515dupTTTTTTTTTTTTTTTTTTTTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFD_chr11_103902189_104169147	104082137	C C	CATTATAT others(14): Show CATTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0129 a0001c0001t0010g0129	1	200	0.0050	21	c.124 others(40): Show c.124+81666_124+81667insATATATATATATATATATAAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104119661	T T	TATATTAA others(14): Show TATATTAATAGATAATATATAA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18957.hp2 NA18985.hp1 NA18950.hp1 NA18957.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0007 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0001t0003g0007 a0001c0002t0001g0004 a0001c0002t0001g0005	3	200	0.0150	21	c.124 others(40): Show c.124+44142_124+44143insTTATATATTATCTATTAATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFRB_chr5_150108839_150160845	150150563	C C	CCTGCACC others(14): Show CCTGCACCAGGCTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp2 others(76): Show HG00099.hp1 HG00408.hp2 HG00423.hp2 HG00609.hp1 HG00735.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01255.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02630.hp2 HG02683.hp1 HG02809.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03130.hp2 HG03471.hp2 HG03492.hp1 HG03654.hp1 HG03688.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18957.hp1 NA18963.hp1 NA18965.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18989.hp2 NA18991.hp2 NA18997.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19058.hp2 NA19070.hp2 NA19080.hp1 NA19082.hp1 NA19091.hp2 NA19240.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0010 a0011	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0016 a0002c0003 a0002c0006 a0002c0035 a0005c0010 a0010c0025 a0011c0033	a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 others(16): Show a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0032 a0001c0002t0004 a0001c0002t0010 a0001c0004t0010 a0001c0005t0010 a0001c0016t0012 a0002c0003t0005 a0002c0003t0027 a0002c0006t0001 a0002c0006t0007 a0002c0035t0005 a0005c0010t0011 a0010c0025t0011 a0011c0033t0007	a0001c0001t0007g0079 a0001c0001t0011g0334 a0001c0001t0011g0341 others(69): Show a0001c0001t0007g0079 a0001c0001t0011g0334 a0001c0001t0011g0341 a0001c0001t0011g0342 a0001c0001t0011g0343 a0001c0001t0011g0351 a0001c0001t0012g0326 a0001c0001t0012g0333 a0001c0001t0012g0345 a0001c0001t0012g0352 a0001c0001t0012g0353 a0001c0001t0012g0354 a0001c0001t0015g0044 a0001c0001t0015g0045 a0001c0001t0015g0046 a0001c0001t0018g0347 a0001c0001t0018g0348 a0001c0001t0032g0346 a0001c0002t0004g0009 a0001c0002t0004g0038 a0001c0002t0004g0322 a0001c0002t0004g0323 a0001c0002t0004g0324 a0001c0002t0004g0325 a0001c0002t0004g0330 a0001c0002t0004g0331 a0001c0002t0004g0337 a0001c0002t0004g0338 a0001c0002t0004g0339 a0001c0002t0004g0340 a0001c0002t0004g0349 a0001c0002t0004g0350 a0001c0002t0004g0355 a0001c0002t0004g0357 a0001c0002t0004g0358 a0001c0002t0004g0360 a0001c0002t0004g0361 a0001c0002t0004g0362 a0001c0002t0004g0363 a0001c0002t0004g0365 a0001c0002t0004g0366 a0001c0002t0010g0329 a0001c0004t0010g0321 a0001c0004t0010g0335 a0001c0004t0010g0336 a0001c0005t0010g0037 a0001c0005t0010g0327 a0001c0005t0010g0328 a0001c0005t0010g0356 a0001c0016t0012g0332 a0002c0003t0005g0004 a0002c0003t0005g0050 a0002c0003t0005g0052 a0002c0003t0005g0053 a0002c0003t0005g0054 a0002c0003t0005g0055 a0002c0003t0005g0056 a0002c0003t0005g0057 a0002c0003t0005g0058 a0002c0003t0005g0059 a0002c0003t0005g0060 a0002c0003t0005g0089 a0002c0003t0027g0187 a0002c0006t0001g0082 a0002c0006t0007g0011 a0002c0006t0007g0047 a0002c0006t0007g0048 a0002c0006t0007g0081 a0002c0035t0005g0051 a0005c0010t0011g0364 a0010c0025t0011g0344 a0011c0033t0007g0083	79	418	0.1890	21	c.-7+ others(36): Show c.-7+4813_-7+4833dupCCCACCCCCAGCCTGGTGCAG	PDGFRB	ENSG00000113721.14	transcript	ENST00000261799.9	protein_coding	1/22			chr5	TogoVar
PDGFRL_chr8_17572216_17648144	17577082	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02293.hp2 HG02896.hp1 HG01884.hp1 HG02293.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0049 a0001c0002t0001g0230 a0001c0001t0001g0009 a0001c0001t0001g0049 a0001c0002t0001g0230	3	400	0.0075	21	c.-17 others(30): Show c.-171_-170insAAAAAAAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding		133		chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17590236	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	400	0.0025	21	c.353 others(36): Show c.353+491_353+492insAAAAAAAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641896	T T	TCCCCGCC others(14): Show TCCCCGCCCCCCCCCCCCCACC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02896.hp1 others(2): Show HG01884.hp2 HG02109.hp1 HG02896.hp1 HG02897.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0018 a0001c0001t0001g0220 a0001c0001t0001g0227 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0002t0001g0230 a0001c0002t0001g0231	5	400	0.0125	21	c.940 others(36): Show c.940-710_940-709insCCCCCCCCCCCACCCCCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDIA4_chr7_148998062_149033505	149025085	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0047 a0001c0001t0005g0047	1	352	0.0028	21	c.88+ others(36): Show c.88+3235_88+3236insATATATATATATATATATATA	PDIA4	ENSG00000155660.11	transcript	ENST00000652332.1	protein_coding	1/9			chr7	TogoVar
PDIA6_chr2_10778391_10817785	10812343	T T	TCCGGGAA others(14): Show TCCGGGAATACTGACCCCCTCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01099.hp1 HG01433.hp2 others(18): Show HG00280.hp1 HG01099.hp1 HG01433.hp2 HG01934.hp1 HG01943.hp1 HG02698.hp2 HG02735.hp1 HG03195.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG04228.hp1 NA19030.hp2 NA19070.hp1 NA20752.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0011 a0001c0005t0003g0018 a0001c0005t0003g0138 others(15): Show a0001c0005t0003g0011 a0001c0005t0003g0018 a0001c0005t0003g0138 a0001c0005t0003g0139 a0001c0005t0003g0140 a0001c0005t0003g0141 a0001c0005t0003g0142 a0001c0005t0003g0143 a0001c0005t0003g0144 a0001c0005t0003g0145 a0001c0005t0003g0146 a0001c0005t0003g0147 a0001c0005t0003g0148 a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0151 a0001c0005t0003g0254 a0001c0005t0003g0255	21	342	0.0614	21	c.19+ others(34): Show c.19+334_19+335insGGAGGGGGTCAGTATTCCCGG	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDK1_chr2_172551090_172613669	172583281	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19030.hp1 HG01884.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0040 a0001c0001t0016 a0001c0001t0040	a0001c0001t0016g0205 a0001c0001t0040g0272 a0001c0001t0016g0205 a0001c0001t0040g0272	2	342	0.0059	21	c.946 others(38): Show c.946-2986_946-2966dupTTTTTTTTTTTTTTTTTTTTT	PDK1	ENSG00000152256.14	transcript	ENST00000282077.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
PDK3_chrX_24460286_24539422	24496568	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01975.hp2 HG02155.hp2 others(8): Show HG00408.hp1 HG01975.hp2 HG02155.hp2 HG02738.hp1 HG03490.hp1 HG03831.hp2 HG04184.hp1 HG04199.hp1 NA18993.hp2 NA19074.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0010 a0001c0001t0002g0091 a0001c0001t0002g0092 others(8): Show a0001c0001t0002g0010 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0003g0086 a0001c0001t0003g0118	11	258	0.0426	21	c.248 others(38): Show c.248+1688_248+1708dupTTTTTTTTTTTTTTTTTTTTT	PDK3	ENSG00000067992.17	transcript	ENST00000379162.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PDLIM1_chr10_95232572_95296003	95237809	C C	CAAGCAGA others(14): Show CAAGCAGAGGGAAAACCAAAGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0169 a0001c0001t0010g0169	1	338	0.0030	21	c.95 others(29): Show c.95_*115dupACTTTGGTTTTCCCTCTGCTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	7/7	115		chr10	TogoVar
PDLIM1_chr10_95232572_95296003	95256986	A A	AAAAAGAA others(14): Show AAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0161 a0002c0003t0001g0161	1	338	0.0030	21	c.533 others(38): Show c.533+6877_533+6878insCTTTCTTTCTTTCTTTCTTTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar

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