Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PCSK6_chr15_101298933_101494707	101489575	G G	GCCCCCCG others(13): Show GCCCCCCGCGCCCCCCGCGCC	frameshift_variant frameshift_variant	HIGH	NA19067.hp2 NA19067.hp2	a0020 a0020	a0020c0073 a0020c0073	a0020c0073t0001 a0020c0073t0001	a0020c0073t0001g0336 a0020c0073t0001g0336	1	336	0.0030	20	c.76_ others(25): Show c.76_95dupGGCGCGGGGGGCGCGGGGGG	p.Gly others(4): Show p.Gly34fs	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	1/22	132/4272	95/2910	32/969			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101490312	G G	GCAGGCCG others(13): Show GCAGGCCGTGCAGGTGAACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0002 a0003c0023t0002	a0003c0023t0002g0310 a0003c0023t0002g0310	1	336	0.0030	20	c.-66 others(29): Show c.-662_-643dupGGGTTCACCTGCACGGCCTG		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding					606		chr15	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0152 a0001c0001t0012g0152	1	460	0.0022	20	c.153 others(39): Show c.1534+3085_1534+3086insTATACACACACACACACACA		PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16						chr11	TogoVar
PCSK9_chr1_55034548_55069852	55058697	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0218 a0004c0003t0001g0218	1	408	0.0025	20	c.150 others(35): Show c.1503+69_1503+70insATGTGTGTGTGTGTGTGTGT		PCSK9	ENSG00000169174.12	transcript	ENST00000302118.5	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
PCYT1A_chr3_196229368_196292726	196253336	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0288 a0001c0001t0035g0288	1	310	0.0032	20	c.217 others(37): Show c.217+4451_217+4452insTTTTTTTTTTTTTTTTTTTT		PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	3/8						chr3	TogoVar
PCYT1B_chrX_24553087_24652347	24623364	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0133 a0001c0001t0062g0133	1	260	0.0039	20	c.118 others(37): Show c.118-4300_118-4281dupATATATATATATATATATAT		PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7						chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637509	T T	TATATATA others(13): Show TATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0085 a0001c0001t0046g0085	1	260	0.0039	20	c.117 others(37): Show c.117+9479_117+9480insTTATATATATATATATATAT		PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7						chrX	TogoVar
PC_chr11_66843420_66963383	66903773	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02735.hp1 HG02071.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0115 a0001c0001t0001g0118	2	274	0.0073	20	c.1-3 others(35): Show c.1-31615_1-31614insATATATATATATTTTTTTTT		PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding	3/22						chr11	TogoVar
PC_chr11_66843420_66963383	66948012	A A	AAGATAGA others(13): Show AAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	274	0.0037	20	c.-1+ others(35): Show c.-1+4398_-1+4417dupATCTATCTATCTATCTATCT		PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding	3/22						chr11	TogoVar
PC_chr11_66843420_66963383	66959935	A A	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG03453.hp2 HG02258.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0269 a0001c0001t0002g0272 a0001c0001t0002g0269 a0001c0001t0002g0272	2	274	0.0073	20	c.-18 others(31): Show c.-1842_-1841insAAAAAAAAAAAATATATATA		PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding					1553		chr11	TogoVar
PDCD2L_chr19_34399399_34431168	34410762	T T	TTATATTT others(13): Show TTATATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02080.hp2 HG02258.hp1 others(2): Show HG01168.hp2 HG02080.hp2 HG02258.hp1 HG04204.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0210 others(1): Show a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0210 a0001c0002t0001g0018	5	382	0.0131	20	c.686 others(37): Show c.686+1253_686+1254insATATTTATTTATTTATTTAT		PDCD2L	ENSG00000126249.8	transcript	ENST00000246535.4	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
PDCD6_chr5_266646_319974	302070	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18747.hp2 NA20752.hp1 others(1): Show HG01943.hp1 NA18747.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0192 a0001c0001t0001g0199 others(1): Show a0001c0001t0001g0178 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0226	4	360	0.0111	20	c.164 others(37): Show c.164-2088_164-2069dupTGTGTGTGTGTGTGTGTGTG		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDC_chr1_186438566_186466114	186455797	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	404	0.0025	20	c.-25 others(37): Show c.-25+5242_-25+5261dupTTTTTTTTTTTTTTTTTTTT		PDC	ENSG00000116703.14	transcript	ENST00000391997.3	protein_coding	1/3						chr1	TogoVar
PDC_chr1_186438566_186466114	186459752	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00738.hp2 HG00741.hp1 others(8): Show HG00544.hp1 HG00738.hp2 HG00741.hp1 HG01243.hp1 HG01433.hp2 HG01516.hp2 HG02004.hp2 HG02145.hp2 HG04228.hp1 NA18960.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0293 a0001c0001t0001g0294 others(6): Show a0001c0001t0001g0016 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300	11	404	0.0272	20	c.-25 others(37): Show c.-25+1287_-25+1306dupTATATATATATATATATATA		PDC	ENSG00000116703.14	transcript	ENST00000391997.3	protein_coding	1/3						chr1	TogoVar
PDE10A_chr6_165322289_165668241	165406228	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA20905.hp2 HG01255.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0009 a0001c0001t0004g0188 a0001c0001t0003g0009 a0001c0001t0004g0188	2	222	0.0090	20	c.207 others(39): Show c.2076+7253_2076+7272dupCACACACACACACACACACA		PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	13/21						chr6	TogoVar
PDE10A_chr6_165322289_165668241	165498423	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	222	0.0045	20	c.995 others(39): Show c.995-16100_995-16081dupTTTTTTTTTTTTTTTTTTTT		PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	2/21						chr6	TogoVar
PDE10A_chr6_165322289_165668241	165542612	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01258.hp2 HG01358.hp2 HG00673.hp1 HG01258.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0002g0159 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0002g0159	3	222	0.0135	20	c.994 others(35): Show c.994+808_994+827dupAAAAAAAAAAAAAAAAAAAA		PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	2/21						chr6	TogoVar
PDE11A_chr2_177618244_178077777	177631521	A A	ATATATAT others(13): Show ATATATATATATACACATGTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0034 a0001c0001t0013g0034	1	170	0.0059	20	c.264 others(39): Show c.2647-1960_2647-1959insCACATGTGTATATATATATA		PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	19/19						chr2	TogoVar
PDE11A_chr2_177618244_178077777	177637979	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0040 a0001c0001t0021g0040	1	170	0.0059	20	c.264 others(39): Show c.2647-8418_2647-8417insTATATATATATATATATATA		PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	19/19						chr2	TogoVar
PDE11A_chr2_177618244_178077777	177666904	A A	AATTTATT others(13): Show AATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG01169.hp2 others(11): Show HG00639.hp2 HG00741.hp2 HG01169.hp2 HG01175.hp1 HG01978.hp1 HG02129.hp1 HG02129.hp2 HG02257.hp1 HG02630.hp2 HG02717.hp2 HG02897.hp1 NA19010.hp2 NA19065.hp2 NA20300.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0003 a0002c0004 others(3): Show a0001c0001 a0001c0003 a0002c0004 a0005c0016 a0005c0021 a0006c0013	a0001c0001t0002 a0001c0001t0008 a0001c0001t0023 others(8): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0023 a0001c0001t0067 a0001c0003t0002 a0002c0004t0001 a0002c0004t0004 a0002c0004t0028 a0005c0016t0009 a0005c0021t0009 a0006c0013t0038	a0001c0001t0002g0079 a0001c0001t0008g0030 a0001c0001t0023g0086 others(11): Show a0001c0001t0002g0079 a0001c0001t0008g0030 a0001c0001t0023g0086 a0001c0001t0067g0024 a0001c0003t0002g0128 a0002c0004t0001g0117 a0002c0004t0001g0119 a0002c0004t0001g0124 a0002c0004t0001g0139 a0002c0004t0004g0116 a0002c0004t0028g0106 a0005c0016t0009g0009 a0005c0021t0009g0105 a0006c0013t0038g0104	14	170	0.0824	20	c.256 others(39): Show c.2562+2569_2562+2588dupAAATAAATAAATAAATAAAT		PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	18/19						chr2	TogoVar
PDE11A_chr2_177618244_178077777	177737420	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01167.hp2 HG01169.hp2 others(7): Show HG01081.hp2 HG01167.hp2 HG01169.hp2 HG01258.hp2 HG02135.hp1 HG02300.hp2 HG02559.hp2 HG02818.hp2 NA18747.hp2 NA18945.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0015 a0007c0028	a0001c0001t0008 a0001c0001t0015 a0001c0003t0011 others(6): Show a0001c0001t0008 a0001c0001t0015 a0001c0003t0011 a0002c0002t0001 a0002c0002t0037 a0002c0004t0001 a0002c0004t0039 a0002c0015t0001 a0007c0028t0061	a0001c0001t0008g0148 a0001c0001t0015g0038 a0001c0003t0011g0098 others(7): Show a0001c0001t0008g0148 a0001c0001t0015g0038 a0001c0003t0011g0098 a0002c0002t0001g0064 a0002c0002t0037g0065 a0002c0004t0001g0117 a0002c0004t0001g0130 a0002c0004t0039g0118 a0002c0015t0001g0013 a0007c0028t0061g0025	10	170	0.0588	20	c.178 others(39): Show c.1789-9249_1789-9248insGTGTGTGTGTGTGTGTGTGT		PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	10/19						chr2	TogoVar
PDE11A_chr2_177618244_178077777	177819860	T T	TTCTCTTT others(13): Show TTCTCTTTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01081.hp1 HG01243.hp1 others(6): Show HG00609.hp1 HG01081.hp1 HG01243.hp1 HG01884.hp1 HG03209.hp1 HG03942.hp2 NA18950.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0010 a0002c0002 others(1): Show a0001c0001 a0001c0010 a0002c0002 a0005c0021	a0001c0001t0005 a0001c0001t0010 a0001c0010t0008 others(3): Show a0001c0001t0005 a0001c0001t0010 a0001c0010t0008 a0002c0002t0001 a0002c0002t0004 a0005c0021t0009	a0001c0001t0005g0060 a0001c0001t0005g0062 a0001c0001t0010g0154 others(6): Show a0001c0001t0005g0060 a0001c0001t0005g0062 a0001c0001t0010g0154 a0001c0010t0008g0061 a0002c0002t0001g0028 a0002c0002t0001g0073 a0002c0002t0001g0135 a0002c0002t0004g0070 a0005c0021t0009g0105	9	170	0.0529	20	c.157 others(37): Show c.1576+359_1576+360insGAGAGAGAGAGAGAAAGAGA		PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	7/19						chr2	TogoVar
PDE11A_chr2_177618244_178077777	177957910	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp2 HG01243.hp1 others(10): Show HG00735.hp1 HG01175.hp2 HG01243.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02486.hp2 HG02896.hp1 HG03453.hp1 HG03688.hp2 NA18522.hp1 NA18945.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0009 others(5): Show a0001c0001 a0001c0006 a0001c0009 a0001c0010 a0001c0027 a0002c0011 a0002c0026 a0002c0034	a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 others(10): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0001t0025 a0001c0006t0002 a0001c0006t0018 a0001c0006t0022 a0001c0009t0062 a0001c0010t0008 a0001c0027t0005 a0002c0011t0001 a0002c0026t0001 a0002c0034t0006	a0001c0001t0005g0062 a0001c0001t0010g0059 a0001c0001t0014g0063 others(10): Show a0001c0001t0005g0062 a0001c0001t0010g0059 a0001c0001t0014g0063 a0001c0001t0025g0096 a0001c0006t0002g0007 a0001c0006t0018g0004 a0001c0006t0022g0002 a0001c0009t0062g0008 a0001c0010t0008g0061 a0001c0027t0005g0127 a0002c0011t0001g0005 a0002c0026t0001g0107 a0002c0034t0006g0169	13	170	0.0765	20	c.107 others(41): Show c.1072-52724_1072-52723insAAAAAAAAAAAAAAAAAAAA		PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19						chr2	TogoVar
PDE11A_chr2_177618244_178077777	178001275	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18522.hp1 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0014 a0001c0001t0010 a0001c0001t0014	a0001c0001t0010g0059 a0001c0001t0014g0063 a0001c0001t0010g0059 a0001c0001t0014g0063	2	170	0.0118	20	c.107 others(41): Show c.1071+13007_1071+13026dupACACACACACACACACACAC		PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19						chr2	TogoVar
PDE11A_chr2_177618244_178077777	178018369	T T	TTTGGCAC others(13): Show TTTGGCACACTTGACTTTAAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00609.hp1 others(95): Show HG00099.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00741.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01258.hp1 HG01361.hp1 HG01884.hp2 HG01978.hp1 HG02040.hp1 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18966.hp2 NA19010.hp2 NA19043.hp2 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0008 a0010 a0011 a0012	a0001c0001 a0001c0003 a0001c0010 others(15): Show a0001c0001 a0001c0003 a0001c0010 a0001c0014 a0001c0027 a0002c0002 a0002c0004 a0002c0020 a0002c0026 a0002c0029 a0004c0007 a0005c0012 a0005c0021 a0006c0013 a0008c0025 a0010c0022 a0011c0019 a0012c0018	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(64): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0031 a0001c0001t0033 a0001c0001t0063 a0001c0003t0002 a0001c0003t0003 a0001c0003t0007 a0001c0003t0008 a0001c0003t0010 a0001c0003t0011 a0001c0003t0014 a0001c0003t0015 a0001c0003t0016 a0001c0003t0023 a0001c0003t0024 a0001c0003t0029 a0001c0003t0030 a0001c0003t0032 a0001c0003t0045 a0001c0003t0049 a0001c0003t0051 a0001c0003t0056 a0001c0003t0058 a0001c0003t0059 a0001c0003t0066 a0001c0010t0002 a0001c0014t0007 a0001c0027t0005 a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 a0002c0002t0012 a0002c0002t0035 a0002c0002t0043 a0002c0004t0001 a0002c0004t0004 a0002c0004t0020 a0002c0004t0028 a0002c0004t0039 a0002c0004t0040 a0002c0004t0041 a0002c0004t0042 a0002c0004t0044 a0002c0020t0001 a0002c0026t0001 a0002c0029t0001 a0004c0007t0003 a0004c0007t0011 a0005c0012t0009 a0005c0021t0009 a0006c0013t0001 a0006c0013t0038 a0008c0025t0048 a0010c0022t0019 a0011c0019t0001 a0012c0018t0001	a0001c0001t0002g0079 a0001c0001t0002g0089 a0001c0001t0003g0138 others(95): Show a0001c0001t0002g0079 a0001c0001t0002g0089 a0001c0001t0003g0138 a0001c0001t0005g0085 a0001c0001t0005g0152 a0001c0001t0007g0115 a0001c0001t0008g0084 a0001c0001t0008g0148 a0001c0001t0010g0154 a0001c0001t0016g0090 a0001c0001t0017g0095 a0001c0001t0023g0086 a0001c0001t0024g0081 a0001c0001t0025g0096 a0001c0001t0025g0103 a0001c0001t0026g0067 a0001c0001t0031g0078 a0001c0001t0033g0072 a0001c0001t0063g0087 a0001c0003t0002g0128 a0001c0003t0002g0149 a0001c0003t0003g0121 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0007g0126 a0001c0003t0008g0145 a0001c0003t0010g0147 a0001c0003t0011g0098 a0001c0003t0014g0151 a0001c0003t0015g0140 a0001c0003t0016g0093 a0001c0003t0023g0091 a0001c0003t0024g0110 a0001c0003t0029g0132 a0001c0003t0030g0123 a0001c0003t0032g0120 a0001c0003t0045g0153 a0001c0003t0049g0143 a0001c0003t0051g0092 a0001c0003t0056g0146 a0001c0003t0058g0066 a0001c0003t0059g0023 a0001c0003t0066g0150 a0001c0010t0002g0022 a0001c0014t0007g0155 a0001c0014t0007g0156 a0001c0027t0005g0127 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0094 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0135 a0002c0002t0004g0070 a0002c0002t0004g0077 a0002c0002t0006g0082 a0002c0002t0006g0083 a0002c0002t0012g0102 a0002c0002t0012g0144 a0002c0002t0035g0021 a0002c0002t0043g0074 a0002c0004t0001g0109 a0002c0004t0001g0117 a0002c0004t0001g0119 a0002c0004t0001g0124 a0002c0004t0001g0125 a0002c0004t0001g0130 a0002c0004t0001g0139 a0002c0004t0001g0141 a0002c0004t0001g0142 a0002c0004t0004g0111 a0002c0004t0004g0116 a0002c0004t0020g0131 a0002c0004t0020g0136 a0002c0004t0028g0106 a0002c0004t0039g0118 a0002c0004t0040g0129 a0002c0004t0041g0122 a0002c0004t0042g0137 a0002c0004t0044g0114 a0002c0020t0001g0108 a0002c0026t0001g0107 a0002c0029t0001g0157 a0004c0007t0003g0158 a0004c0007t0003g0159 a0004c0007t0003g0160 a0004c0007t0011g0161 a0005c0012t0009g0088 a0005c0021t0009g0105 a0006c0013t0001g0068 a0006c0013t0038g0104 a0008c0025t0048g0097 a0010c0022t0019g0069 a0011c0019t0001g0113 a0012c0018t0001g0112	98	170	0.5765	20	c.913 others(37): Show c.913-3929_913-3910dupGTTAAAGTCAAGTGTGCCAA		PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	1/19						chr2	TogoVar
PDE11A_chr2_177618244_178077777	178018377	A A	ACTTGACT others(13): Show ACTTGACTTTAACTTGGCACG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG00621.hp2 others(49): Show HG00099.hp1 HG00558.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01071.hp2 HG01081.hp2 HG01167.hp2 HG01175.hp2 HG01243.hp1 HG01258.hp2 HG01361.hp2 HG01884.hp1 HG01978.hp2 HG02055.hp2 HG02109.hp2 HG02135.hp2 HG02257.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02630.hp1 HG02698.hp1 HG02886.hp1 HG02897.hp1 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03834.hp2 NA18522.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp2 NA18950.hp2 NA18966.hp1 NA19010.hp1 NA19043.hp1 NA19060.hp2 NA19068.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0009	a0001c0001 a0001c0006 a0001c0010 others(10): Show a0001c0001 a0001c0006 a0001c0010 a0001c0024 a0001c0032 a0002c0002 a0002c0004 a0002c0011 a0002c0033 a0002c0034 a0005c0012 a0007c0028 a0009c0023	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(36): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0046 a0001c0001t0054 a0001c0001t0060 a0001c0001t0067 a0001c0006t0002 a0001c0006t0018 a0001c0006t0022 a0001c0006t0055 a0001c0010t0005 a0001c0010t0008 a0001c0024t0017 a0001c0032t0068 a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 a0002c0002t0019 a0002c0002t0034 a0002c0002t0036 a0002c0002t0037 a0002c0004t0001 a0002c0011t0001 a0002c0033t0006 a0002c0034t0006 a0005c0012t0009 a0007c0028t0061 a0009c0023t0012	a0001c0001t0002g0058 a0001c0001t0003g0049 a0001c0001t0005g0060 others(49): Show a0001c0001t0002g0058 a0001c0001t0003g0049 a0001c0001t0005g0060 a0001c0001t0005g0062 a0001c0001t0007g0052 a0001c0001t0008g0030 a0001c0001t0010g0059 a0001c0001t0011g0037 a0001c0001t0013g0020 a0001c0001t0013g0034 a0001c0001t0014g0051 a0001c0001t0014g0063 a0001c0001t0015g0038 a0001c0001t0018g0043 a0001c0001t0021g0027 a0001c0001t0021g0040 a0001c0001t0022g0057 a0001c0001t0046g0041 a0001c0001t0054g0050 a0001c0001t0060g0080 a0001c0001t0067g0024 a0001c0006t0002g0007 a0001c0006t0018g0004 a0001c0006t0022g0002 a0001c0006t0055g0006 a0001c0010t0005g0035 a0001c0010t0008g0061 a0001c0024t0017g0044 a0001c0032t0068g0170 a0002c0002t0001g0028 a0002c0002t0001g0031 a0002c0002t0001g0042 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0064 a0002c0002t0004g0032 a0002c0002t0004g0033 a0002c0002t0006g0026 a0002c0002t0019g0054 a0002c0002t0034g0046 a0002c0002t0036g0036 a0002c0002t0037g0065 a0002c0004t0001g0055 a0002c0004t0001g0056 a0002c0011t0001g0003 a0002c0011t0001g0005 a0002c0033t0006g0168 a0002c0034t0006g0169 a0005c0012t0009g0053 a0007c0028t0061g0025 a0009c0023t0012g0039	52	170	0.3059	20	c.913 others(37): Show c.913-3918_913-3917insCGTGCCAAGTTAAAGTCAAG		PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	1/19						chr2	TogoVar
PDE12_chr3_57551274_57571848	57570219	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0019 a0001c0001t0014g0019	1	388	0.0026	20	c.10 others(33): Show c.10215_*10216insTTTTTTTTTTTTTTTTGTTT		PDE12	ENSG00000174840.9	transcript	ENST00000311180.9	protein_coding					3372		chr3	TogoVar
PDE1A_chr2_182135041_182432036	182242943	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01928.hp2 others(14): Show HG01168.hp2 HG01169.hp1 HG01928.hp2 HG01981.hp1 HG02132.hp1 HG02293.hp2 HG03491.hp2 HG03654.hp1 NA18943.hp1 NA18961.hp2 NA18965.hp2 NA18979.hp2 NA18991.hp2 NA18994.hp2 NA18999.hp2 NA19066.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010	a0001c0001t0002g0039 a0001c0001t0002g0077 a0001c0001t0002g0078 others(14): Show a0001c0001t0002g0039 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0119 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0192 a0001c0001t0002g0206 a0001c0001t0007g0054 a0001c0001t0010g0087 a0001c0001t0010g0088 a0001c0001t0010g0160	17	264	0.0644	20	c.168 others(37): Show c.168-2652_168-2651insAACACACACACACACACACA		PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	2/14						chr2	TogoVar
PDE1A_chr2_182135041_182432036	182264878	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03098.hp1 HG03669.hp1 others(1): Show HG02572.hp1 HG03098.hp1 HG03669.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0021 others(1): Show a0001c0001t0006 a0001c0001t0011 a0001c0001t0021 a0001c0001t0049	a0001c0001t0006g0126 a0001c0001t0011g0012 a0001c0001t0021g0093 others(1): Show a0001c0001t0006g0126 a0001c0001t0011g0012 a0001c0001t0021g0093 a0001c0001t0049g0122	4	264	0.0152	20	c.54- others(33): Show c.54-465_54-464insATATATATATATATATATAT		PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14						chr2	TogoVar
PDE1A_chr2_182135041_182432036	182264889	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA20752.hp2 HG04115.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0046 a0001c0001t0042 a0001c0001t0046	a0001c0001t0042g0115 a0001c0001t0046g0043 a0001c0001t0042g0115 a0001c0001t0046g0043	2	264	0.0076	20	c.54- others(33): Show c.54-476_54-475insCATATATATATATATATATA		PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14						chr2	TogoVar
PDE1A_chr2_182135041_182432036	182385640	G G	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02132.hp2 HG02451.hp2 others(12): Show HG01081.hp1 HG02132.hp2 HG02451.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02738.hp1 HG02970.hp2 HG03654.hp1 NA18953.hp1 NA18977.hp2 NA18999.hp1 NA19075.hp1 NA19087.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0046	a0001c0001t0002g0044 a0001c0001t0002g0119 a0001c0001t0003g0048 others(12): Show a0001c0001t0002g0044 a0001c0001t0002g0119 a0001c0001t0003g0048 a0001c0001t0003g0156 a0001c0001t0006g0148 a0001c0001t0008g0152 a0001c0001t0010g0042 a0001c0001t0013g0046 a0001c0001t0014g0153 a0001c0001t0014g0224 a0001c0001t0014g0231 a0001c0001t0015g0047 a0001c0001t0015g0049 a0001c0001t0019g0234 a0001c0001t0046g0043	15	264	0.0568	20	c.53+ others(37): Show c.53+40918_53+40937dupTCTTTCTTTCTTTCTTTCTT		PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14						chr2	TogoVar
PDE1C_chr7_31746179_32075407	31785163	G G	GTGGGTGA others(13): Show GTGGGTGAGGTTCAGGAATCA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02717.hp1 HG02922.hp1 others(1): Show HG01243.hp2 HG02717.hp1 HG02922.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0003 a0001c0005t0007 a0001c0001t0002 a0001c0005t0003 a0001c0005t0007	a0001c0001t0002g0200 a0001c0005t0003g0085 a0001c0005t0003g0086 others(1): Show a0001c0001t0002g0200 a0001c0005t0003g0085 a0001c0005t0003g0086 a0001c0005t0007g0001	4	262	0.0153	20	c.189 others(39): Show c.1892-9432_1892-9431insTGATTCCTGAACCTCACCCA		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	16/17						chr7	TogoVar
PDE1C_chr7_31746179_32075407	31794073	C C	CAGATAGA others(13): Show CAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	262	0.0038	20	c.189 others(41): Show c.1891+14957_1891+14958insATCTATCTATCTATCTATCT		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	16/17						chr7	TogoVar
PDE1C_chr7_31746179_32075407	31875793	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0002 a0001c0022t0002	a0001c0022t0002g0087 a0001c0022t0002g0087	1	262	0.0038	20	c.492 others(37): Show c.492+2157_492+2176dupTATATATATATATATATATA		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	5/17						chr7	TogoVar
PDE1C_chr7_31746179_32075407	31875831	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19030.hp1 NA19001.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0030 a0001c0001t0004g0234 a0001c0001t0001g0030 a0001c0001t0004g0234	2	262	0.0076	20	c.492 others(37): Show c.492+2138_492+2139insCATATATATATATATATATA		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	5/17						chr7	TogoVar
PDE1C_chr7_31746179_32075407	31895991	T T	TTACATAC others(13): Show TTACATACATACATACATACA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01070.hp1 HG01952.hp2 others(5): Show HG00408.hp2 HG01070.hp1 HG01952.hp2 HG02738.hp1 HG02886.hp2 HG04228.hp1 NA19000.hp2 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0002c0007t0002	a0001c0001t0001g0063 a0001c0001t0001g0216 a0001c0001t0002g0062 others(5): Show a0001c0001t0001g0063 a0001c0001t0001g0216 a0001c0001t0002g0062 a0001c0001t0002g0098 a0001c0001t0003g0068 a0001c0002t0001g0076 a0001c0002t0001g0094 a0002c0007t0002g0144	8	262	0.0305	20	c.129 others(39): Show c.129-15151_129-15132dupTGTATGTATGTATGTATGTA		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17						chr7	TogoVar
PDE1C_chr7_31746179_32075407	31896020	T T	TACATACA others(13): Show TACATACATACATACATACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02630.hp2 others(7): Show HG01167.hp2 HG01169.hp1 HG02630.hp2 HG02717.hp1 HG02922.hp1 HG03486.hp1 HG03540.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0005t0003 a0001c0005t0007 others(1): Show a0001c0001t0001 a0001c0005t0003 a0001c0005t0007 a0001c0006t0003	a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0005t0003g0019 others(7): Show a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0005t0003g0019 a0001c0005t0003g0020 a0001c0005t0003g0085 a0001c0005t0003g0086 a0001c0005t0007g0001 a0001c0005t0007g0003 a0001c0005t0007g0004 a0001c0006t0003g0203	10	262	0.0382	20	c.129 others(39): Show c.129-15161_129-15160insGTGTATGTATGTATGTATGT		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17						chr7	TogoVar
PDE1C_chr7_31746179_32075407	31930848	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	262	0.0038	20	c.129 others(39): Show c.129-50008_129-49989dupTTTTTTTTTTTTTTTTTTTT		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17						chr7	TogoVar
PDE1C_chr7_31746179_32075407	32056320	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0260 a0001c0005t0002g0260	1	262	0.0038	20	c.102 others(37): Show c.102-4760_102-4741dupGAGAGAGAGAGAGAGAGAGA		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	1/17						chr7	TogoVar
PDE3B_chr11_14638804_14877044	14749899	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01071.hp2 HG01168.hp2 others(11): Show HG00438.hp2 HG01071.hp2 HG01168.hp2 HG01169.hp2 HG01261.hp2 HG01934.hp2 HG02040.hp2 HG02129.hp1 HG02135.hp2 HG02293.hp2 HG06807.hp1 NA18945.hp1 NA18998.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0010 a0001c0001 a0001c0003 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 a0005c0010t0001	a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0155 others(11): Show a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0171 a0001c0001t0001g0269 a0001c0001t0001g0277 a0001c0001t0001g0321 a0001c0001t0002g0198 a0001c0001t0002g0292 a0001c0003t0001g0161 a0001c0003t0003g0150 a0001c0003t0003g0272 a0005c0010t0001g0280	14	332	0.0422	20	c.979 others(39): Show c.979-22024_979-22023insATATATATATATATATATAT		PDE3B	ENSG00000152270.9	transcript	ENST00000282096.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
PDE4B_chr1_65787895_66379574	65825705	C C	CCTGTCTG others(13): Show CCTGTCTGTCTGTCTGTCTGT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	118	0.0085	20	c.-71 others(39): Show c.-71+32459_-71+32460insGTCTGTCTGTCTGTCTGTCT		PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4B_chr1_65787895_66379574	65887414	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02647.hp1 HG03516.hp2 HG02055.hp1 HG02647.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0014g0058 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0014g0058	3	118	0.0254	20	c.-70 others(39): Show c.-70-25826_-70-25807dupTTTTTTTTTTTTTTTTTTTT		PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4B_chr1_65787895_66379574	65924077	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02559.hp2 HG02922.hp1 others(3): Show HG00735.hp2 HG02559.hp2 HG02922.hp1 HG03516.hp2 HG03579.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 others(1): Show a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001	a0001c0001t0009g0038 a0001c0001t0014g0058 a0001c0001t0016g0034 others(3): Show a0001c0001t0009g0038 a0001c0001t0014g0058 a0001c0001t0016g0034 a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0110	6	118	0.0509	20	c.281 others(37): Show c.281+5257_281+5258insTTTTTTTTTTTTTTTTTTTT		PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4C_chr19_18202965_18231438	18221049	T T	TCCGCCAG others(13): Show TCCGCCAGGCCCCGCCCCACC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(181): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp2 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18962.hp1 NA18963.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18972.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19070.hp2 NA19078.hp2 NA19081.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0011 a0012	a0001c0001 a0001c0003 a0001c0010 others(9): Show a0001c0001 a0001c0003 a0001c0010 a0002c0002 a0003c0011 a0004c0005 a0005c0006 a0006c0007 a0008c0014 a0010c0012 a0011c0009 a0012c0008	a0001c0001t0002 a0001c0001t0021 a0001c0003t0001 others(22): Show a0001c0001t0002 a0001c0001t0021 a0001c0003t0001 a0001c0003t0005 a0001c0003t0006 a0001c0003t0010 a0001c0003t0016 a0001c0003t0017 a0001c0010t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0013 a0002c0002t0018 a0002c0002t0019 a0002c0002t0020 a0003c0011t0001 a0004c0005t0004 a0005c0006t0008 a0006c0007t0004 a0008c0014t0004 a0010c0012t0003 a0011c0009t0004 a0012c0008t0003	a0001c0001t0002g0005 a0001c0001t0002g0052 a0001c0001t0002g0086 others(80): Show a0001c0001t0002g0005 a0001c0001t0002g0052 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0021g0167 a0001c0003t0001g0003 a0001c0003t0001g0006 a0001c0003t0001g0012 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0040 a0001c0003t0001g0175 a0001c0003t0001g0177 a0001c0003t0001g0179 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0001g0184 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0190 a0001c0003t0005g0178 a0001c0003t0005g0182 a0001c0003t0005g0189 a0001c0003t0006g0013 a0001c0003t0006g0042 a0001c0003t0006g0045 a0001c0003t0010g0039 a0001c0003t0016g0043 a0001c0003t0017g0183 a0001c0010t0001g0176 a0002c0002t0001g0139 a0002c0002t0003g0002 a0002c0002t0003g0019 a0002c0002t0003g0026 a0002c0002t0003g0036 a0002c0002t0003g0142 a0002c0002t0003g0143 a0002c0002t0003g0146 a0002c0002t0003g0149 a0002c0002t0003g0150 a0002c0002t0003g0154 a0002c0002t0003g0155 a0002c0002t0003g0157 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0003g0168 a0002c0002t0003g0170 a0002c0002t0003g0171 a0002c0002t0003g0172 a0002c0002t0003g0173 a0002c0002t0003g0174 a0002c0002t0004g0007 a0002c0002t0004g0025 a0002c0002t0004g0038 a0002c0002t0004g0041 a0002c0002t0004g0138 a0002c0002t0004g0140 a0002c0002t0004g0144 a0002c0002t0004g0145 a0002c0002t0004g0147 a0002c0002t0004g0151 a0002c0002t0004g0153 a0002c0002t0004g0156 a0002c0002t0004g0161 a0002c0002t0004g0162 a0002c0002t0004g0163 a0002c0002t0009g0037 a0002c0002t0013g0159 a0002c0002t0018g0160 a0002c0002t0019g0044 a0002c0002t0020g0148 a0003c0011t0001g0188 a0004c0005t0004g0018 a0004c0005t0004g0137 a0004c0005t0004g0158 a0005c0006t0008g0027 a0006c0007t0004g0191 a0008c0014t0004g0169 a0010c0012t0003g0166 a0011c0009t0004g0141 a0012c0008t0003g0152	184	394	0.4670	20	c.449 others(33): Show c.449+55_449+56insGGTGGGGCGGGGCCTGGCGG		PDE4C	ENSG00000105650.23	transcript	ENST00000262805.17	protein_coding	4/14						chr19	TogoVar
PDE4D_chr5_58964038_59898726	59079838	G G	GGGAGAGG others(13): Show GGGAGAGGAGAGGAGAGGAGA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01952.hp2 NA18966.hp1 HG01361.hp1 HG01952.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0034 a0001c0001t0001g0058 a0001c0001t0010g0035 a0001c0001t0001g0034 a0001c0001t0001g0058 a0001c0001t0010g0035	3	74	0.0405	20	c.809 others(39): Show c.809-40868_809-40867insTCTCCTCTCCTCTCCTCTCC		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	5/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59156318	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03130.hp1 HG02451.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0067 a0001c0001t0009g0070 a0001c0001t0006g0067 a0001c0001t0009g0070	2	74	0.0270	20	c.808 others(39): Show c.808+24276_808+24277insATATATATATATATATATAT		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	5/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59388626	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02698.hp1 NA18966.hp1 HG01071.hp1 HG02698.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0010g0035 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0010g0035	3	74	0.0405	20	c.456 others(41): Show c.456-172678_456-172659dupGTGTGTGTGTGTGTGTGTGT		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59392503	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp1 HG02451.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0042 a0001c0001t0004g0028 a0001c0001t0003g0042 a0001c0001t0004g0028	2	74	0.0270	20	c.456 others(41): Show c.456-176555_456-176536dupTATATATATATATATATATA		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59401478	A A	ATCTATCT others(13): Show ATCTATCTATCTGTCTGTCTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG03017.hp1 others(1): Show HG01884.hp2 HG01891.hp1 HG03017.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0015	a0001c0001t0001g0046 a0001c0001t0002g0023 a0001c0001t0012g0061 others(1): Show a0001c0001t0001g0046 a0001c0001t0002g0023 a0001c0001t0012g0061 a0001c0001t0015g0066	4	74	0.0541	20	c.456 others(41): Show c.456-185511_456-185510insCAGACAGACAGATAGATAGA		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59616918	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01952.hp1 HG02698.hp2 others(6): Show HG01884.hp2 HG01952.hp1 HG02698.hp2 HG02896.hp1 HG02965.hp2 HG03130.hp2 HG03471.hp2 HG03486.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 a0001c0001t0020 a0001c0005t0004	a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0002g0039 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0002g0039 a0001c0001t0002g0060 a0001c0001t0004g0031 a0001c0001t0008g0047 a0001c0001t0015g0066 a0001c0001t0020g0027 a0001c0005t0004g0074	9	74	0.1216	20	c.455 others(41): Show c.455+276230_455+276249dupATATATATATATATATATAT		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar

Search by Variant

Search

Search Results