Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(11): Show ATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	328	0.0031	18	c.858 others(35): Show c.858+2796_858+2797insAAAAAAAATATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG00738.hp2 others(9): Show HG00558.hp2 HG00673.hp1 HG00738.hp2 HG01167.hp2 HG01496.hp2 HG01515.hp2 HG01975.hp1 HG02004.hp2 HG02486.hp2 HG03239.hp1 HG03831.hp2 NA19086.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0001c0010 a0015c0017 a0001c0001 a0001c0010 a0015c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0066 a0001c0001t0076 a0001c0001t0080 a0001c0010t0004 a0015c0017t0002	a0001c0001t0001g0150 a0001c0001t0001g0190 a0001c0001t0001g0191 others(9): Show a0001c0001t0001g0150 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0004g0120 a0001c0001t0004g0148 a0001c0001t0013g0196 a0001c0001t0066g0147 a0001c0001t0076g0135 a0001c0001t0080g0201 a0001c0010t0004g0136 a0015c0017t0002g0002	12	328	0.0366	18	c.858 others(35): Show c.858+2796_858+2797insAAAAAAAAAATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(11): Show ATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01943.hp2 HG02083.hp2 others(9): Show HG01346.hp1 HG01943.hp2 HG02083.hp2 HG02559.hp1 HG02970.hp2 HG03704.hp2 NA18942.hp2 NA18986.hp1 NA19005.hp1 NA19007.hp2 NA19043.hp2 NA19088.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0020 a0001c0001 a0012c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0036 a0001c0001t0048 a0001c0001t0062 a0012c0020t0004	a0001c0001t0001g0124 a0001c0001t0001g0154 a0001c0001t0001g0156 others(9): Show a0001c0001t0001g0124 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0172 a0001c0001t0003g0177 a0001c0001t0009g0188 a0001c0001t0013g0016 a0001c0001t0014g0130 a0001c0001t0036g0131 a0001c0001t0048g0155 a0001c0001t0062g0129 a0012c0020t0004g0143	12	328	0.0366	18	c.858 others(35): Show c.858+2796_858+2797insAAAAAAAAAAAATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATTT others(11): Show ATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02615.hp1 HG02698.hp2 others(2): Show HG01192.hp1 HG02615.hp1 HG02698.hp2 HG03942.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0031 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0031 a0001c0001t0059 a0001c0001t0070	a0001c0001t0001g0117 a0001c0001t0004g0152 a0001c0001t0031g0001 others(2): Show a0001c0001t0001g0117 a0001c0001t0004g0152 a0001c0001t0031g0001 a0001c0001t0059g0118 a0001c0001t0070g0151	5	328	0.0152	18	c.858 others(35): Show c.858+2796_858+2797insAAAAAAAAAAAAAATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATTTTT others(11): Show ATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03471.hp1 HG01934.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0127 a0001c0001t0003g0178 a0001c0001t0001g0127 a0001c0001t0003g0178	2	328	0.0061	18	c.858 others(35): Show c.858+2796_858+2797insAAAAAAAAAAAAAAAATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0234 a0001c0002t0001g0234	1	328	0.0031	18	c.858 others(35): Show c.858+2779_858+2796dupAAAAAAAAAAAAAAAAAA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6B_chr4_620573_675782	642725	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01975.hp2 HG02717.hp1 others(1): Show HG01255.hp2 HG01975.hp2 HG02717.hp1 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0269 a0002c0003t0005g0270 a0002c0003t0005g0274 others(1): Show a0002c0003t0005g0269 a0002c0003t0005g0270 a0002c0003t0005g0274 a0002c0003t0005g0276	4	308	0.0130	18	c.711 others(35): Show c.711+6764_711+6781dupAAAAAAAAAAAAAAAAAA	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	668914	A A	ACTACCCC others(11): Show ACTACCCCACGCTATTCCC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18979.hp1 NA19056.hp1 NA18952.hp2 NA18979.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0074 a0001c0001t0003g0078 a0001c0001t0003g0051 a0001c0001t0003g0074 a0001c0001t0003g0078	3	308	0.0097	18	c.250 others(35): Show c.2503+917_2503+934dupCGCTATTCCCCTACCCCA	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6G_chr17_81645459_81661542	81652182	T T	TGCACTGA others(11): Show TGCACTGATGGGAGTGAGA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	434	0.0023	18	c.147 others(33): Show c.147-498_147-497insTCTCACTCCCATCAGTGC	PDE6G	ENSG00000185527.12	transcript	ENST00000331056.10	protein_coding	2/3			chr17	TogoVar
PDE6H_chr12_14968042_14986865	14982038	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18945.hp2 NA19060.hp2 NA18939.hp1 NA18945.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	3	448	0.0067	18	c.56 others(27): Show c.562_*563insTTTTTTTTTTTTTTTTTT	PDE6H	ENSG00000139053.3	transcript	ENST00000266395.3	protein_coding		174		chr12	TogoVar
PDE7A_chr8_65709334_65847064	65713439	A A	AACACACA others(11): Show AACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 NA18939.hp1 NA20905.hp2 HG02293.hp2 NA18939.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0060 a0001c0001t0005 a0001c0001t0060	a0001c0001t0005g0068 a0001c0001t0005g0074 a0001c0001t0060g0061 a0001c0001t0005g0068 a0001c0001t0005g0074 a0001c0001t0060g0061	3	248	0.0121	18	c.58 others(29): Show c.5833_*5850dupGTGTGTGTGTGTGTGTGT	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding		894		chr8	TogoVar
PDE7A_chr8_65709334_65847064	65798179	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0071 a0001c0001t0005g0071	1	248	0.0040	18	c.139 others(37): Show c.139-15354_139-15337dupATATATATATATATATAT	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12			chr8	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG04115.hp1 NA18974.hp2 HG01346.hp1 HG04115.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0059 a0001c0001t0005g0067 a0001c0001t0011g0042 a0001c0001t0005g0059 a0001c0001t0005g0067 a0001c0001t0011g0042	3	248	0.0121	18	c.139 others(37): Show c.139-15364_139-15363insAATATATATATATATATA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12			chr8	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp2 HG02886.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0028 a0001c0001t0012 a0001c0001t0028	a0001c0001t0012g0081 a0001c0001t0028g0085 a0001c0001t0012g0081 a0001c0001t0028g0085	2	248	0.0081	18	c.139 others(37): Show c.139-15364_139-15363insAAAATATATATATATATA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12			chr8	TogoVar
PDE7A_chr8_65709334_65847064	65841963	G G	GGCCGCCG others(11): Show GGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0244 a0001c0001t0090g0244	1	248	0.0040	18	c.-47 others(27): Show c.-473_-456dupGGCGGCGGCGGCGGCGGC	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/13	456		chr8	TogoVar
PDE7B_chr6_135846701_136200574	135914485	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0038 a0003c0004t0038	a0003c0004t0038g0039 a0003c0004t0038g0039	1	142	0.0070	18	c.22- others(35): Show c.22-32970_22-32953dupTTTTTTTTTTTTTTTTTT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	135935089	T T	TGAGACAG others(11): Show TGAGACAGAGAATTTTATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01978.hp1 HG01081.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0082 a0001c0001t0012g0137 a0001c0001t0001g0082 a0001c0001t0012g0137	2	142	0.0141	18	c.22- others(35): Show c.22-12375_22-12374insGAGACAGAGAATTTTATA	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12			chr6	TogoVar
PDE7B_chr6_135846701_136200574	135935186	T T	TTTTATAT others(11): Show TTTTATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01952.hp1 HG01255.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0122 a0001c0001t0003g0045 a0001c0001t0001g0122 a0001c0001t0003g0045	2	142	0.0141	18	c.22- others(35): Show c.22-12277_22-12276insTTATATATATATATTTAT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	135935190	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18906.hp1 HG03041.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0007 a0001c0001t0004g0011 a0001c0001t0002g0007 a0001c0001t0004g0011	2	142	0.0141	18	c.22- others(35): Show c.22-12264_22-12247dupATATATATATATATATAT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	135961269	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0135 a0001c0001t0004g0135	1	142	0.0070	18	c.82+ others(35): Show c.82+13756_82+13757insGTGTGTATGTGTGTGTGT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	136156162	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA19060.hp2 HG01496.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0051 a0001c0001t0003g0048 a0001c0001t0003g0051	2	142	0.0141	18	c.711 others(33): Show c.711+427_711+444dupGTGTGTGTGTGTGTGTGT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	136191013	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02886.hp2 HG03225.hp1 HG02055.hp1 HG02886.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0023 a0001c0001t0033 a0001c0001t0005 a0001c0001t0023 a0001c0001t0033	a0001c0001t0005g0012 a0001c0001t0023g0126 a0001c0001t0033g0055 a0001c0001t0005g0012 a0001c0001t0023g0126 a0001c0001t0033g0055	3	142	0.0211	18	c.112 others(35): Show c.1127-594_1127-577dupTTTTTTTTTTTTTTTTTT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE8A_chr15_84976856_85144142	84978085	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02717.hp1 HG02965.hp2 others(2): Show HG02109.hp1 HG02717.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0323 others(2): Show a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325	5	344	0.0145	18	c.-40 others(29): Show c.-4078_-4077insGTGTGTGTGTGTGTGTGT	PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding		3770		chr15	TogoVar
PDE8A_chr15_84976856_85144142	85017887	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	344	0.0029	18	c.186 others(37): Show c.186+35551_186+35552insAAAAAAAAAAAAAAAAAA	PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDE8A_chr15_84976856_85144142	85119468	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp1 HG01243.hp1 others(3): Show HG00733.hp1 HG01175.hp1 HG01243.hp1 HG02615.hp2 HG03471.hp1 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0003c0005t0002 a0001c0001t0002 a0003c0005t0002	a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 others(3): Show a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0003c0005t0002g0033 a0003c0005t0002g0034	6	344	0.0174	18	c.173 others(37): Show c.1735-1316_1735-1315insAAAAAAAAAAAAAAAAAA	PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDE8B_chr5_77205680_77433256	77340600	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0137 a0001c0003t0008g0137	1	314	0.0032	18	c.797 others(35): Show c.797+3310_797+3327dupGTGTGTGTGTGTGTGTGT	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE8B_chr5_77205680_77433256	77378049	C C	CACACACA others(11): Show CACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0131 a0001c0003t0008g0131	1	314	0.0032	18	c.116 others(39): Show c.1168-22199_1168-22198insACACACACACACACACAT	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21			chr5	TogoVar
PDE8B_chr5_77205680_77433256	77397026	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0199 a0001c0001t0007g0199	1	314	0.0032	18	c.116 others(37): Show c.1168-3215_1168-3198dupTTTTTTTTTTTTTTTTTT	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE8B_chr5_77205680_77433256	77423632	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00738.hp2 HG00597.hp1 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0005 a0001c0002t0004 a0001c0002t0005	a0001c0002t0004g0090 a0001c0002t0005g0264 a0001c0002t0004g0090 a0001c0002t0005g0264	2	314	0.0064	18	c.241 others(37): Show c.2418+1654_2418+1671dupTTTTTTTTTTTTTTTTTT	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(11): Show ATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02135.hp1 HG02132.hp2 HG02135.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0162 a0001c0003t0001g0215 a0001c0003t0001g0162 a0001c0003t0001g0215	2	324	0.0062	18	c.263 others(35): Show c.263-5145_263-5144insATATATATATTTTTTTTT	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(11): Show ATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0270 a0001c0002t0001g0270	1	324	0.0031	18	c.263 others(35): Show c.263-5145_263-5144insATATATATTTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFA_chr7_492258_524846	508559	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0083 a0001c0002t0083	a0001c0002t0083g0079 a0001c0002t0083g0079	1	302	0.0033	18	c.453 others(35): Show c.453+2232_453+2249dupTTTTTTTTTTTTTTTTTT	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar
PDGFB_chr22_39218359_39249982	39228893	A A	AAAAAAAA others(11): Show AAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	386	0.0026	18	c.601 others(35): Show c.601+1190_601+1191insATATATATTTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding	5/6			chr22	TogoVar
PDGFB_chr22_39218359_39249982	39228893	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0073 a0001c0001t0008g0073	1	386	0.0026	18	c.601 others(35): Show c.601+1190_601+1191insATATATATATTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding	5/6			chr22	TogoVar
PDGFB_chr22_39218359_39249982	39228893	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	386	0.0026	18	c.601 others(35): Show c.601+1190_601+1191insATATATATATATTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding	5/6			chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247885	A A	AATACATA others(11): Show AATACATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0241 a0001c0001t0007g0241	1	386	0.0026	18	c.-39 others(29): Show c.-3923_-3922insATATATATATATATGTAT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2904		chr22	TogoVar
PDGFC_chr4_156755454_156976799	156824285	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	208	0.0048	18	c.315 others(37): Show c.315-13286_315-13269dupATATATATATATATATAT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156824327	T T	TACACATA others(11): Show TACACATATACACATACAC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0115 a0001c0002t0002g0115	1	208	0.0048	18	c.315 others(37): Show c.315-13311_315-13310insGTGTATGTGTATATGTGT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156824327	T T	TATACACA others(11): Show TATACACATATACACATAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01891.hp2 HG01358.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0002 a0001c0001t0022	a0001c0001t0002g0094 a0001c0001t0022g0057 a0001c0001t0002g0094 a0001c0001t0022g0057	2	208	0.0096	18	c.315 others(37): Show c.315-13311_315-13310insGTATGTGTATATGTGTAT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825581	T T	TAAGAAGA others(11): Show TAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	208	0.0048	18	c.315 others(37): Show c.315-14565_315-14564insCTTCTTCTTCTTCTTCTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825587	T T	TAAGAAGA others(11): Show TAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	208	0.0048	18	c.315 others(37): Show c.315-14571_315-14570insCTTCTTCTTCTTCTTCTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825593	T T	TAAGAAGA others(11): Show TAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0006 a0001c0001t0010g0006	1	208	0.0048	18	c.315 others(37): Show c.315-14594_315-14577dupCTTCTTCTTCTTCTTCTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156862036	T T	TAATTTCT others(11): Show TAATTTCTGCCTAAATCTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02970.hp1 HG02258.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0029 a0001c0001t0002 a0001c0003t0029	a0001c0001t0002g0168 a0001c0003t0029g0177 a0001c0001t0002g0168 a0001c0003t0029g0177	2	208	0.0096	18	c.119 others(37): Show c.119-11621_119-11620insCAGATTTAGGCAGAAATT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156865186	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	208	0.0048	18	c.119 others(37): Show c.119-14788_119-14771dupTGTGTGTGTGTGTGTGTG	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156960252	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0171 a0001c0001t0008g0171	1	208	0.0048	18	c.118 others(37): Show c.118+10516_118+10533dupTATATATATATATATATA	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFD_chr11_103902189_104169147	103943322	T T	TTCCAAAA others(11): Show TTCCAAAATCCAAAAAGCA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0173 a0001c0002t0004g0173	1	200	0.0050	18	c.772 others(33): Show c.772+112_772+129dupTGCTTTTTGGATTTTGGA	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	5/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104009429	C C	CATTATTA others(11): Show CATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0103 a0001c0002t0008g0103	1	200	0.0050	18	c.125 others(35): Show c.125-9192_125-9175dupAATAATAATAATAATAAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFRA_chr4_54224293_54303245	54260397	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA21309.hp2 HG02109.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0005 a0002c0002t0002 a0001c0003t0005 a0002c0002t0002	a0001c0003t0005g0030 a0002c0002t0002g0021 a0001c0003t0005g0030 a0002c0002t0002g0021	2	300	0.0067	18	c.50- others(31): Show c.50-686_50-669dupTTTTTTTTTTTTTTTTTT	PDGFRA	ENSG00000134853.12	transcript	ENST00000257290.10	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDGFRL_chr8_17572216_17648144	17590236	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	400	0.0025	18	c.353 others(33): Show c.353+474_353+491dupAAAAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17638738	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	400	0.0025	18	c.940 others(35): Show c.940-3843_940-3826dupTATATATATATATATATA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar

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