Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PCNX1_chr14_70902459_71120382	70910180	C C	CTCCTCCT others(17): Show CTCCTCCTCCTCCTCCTCCTCCTCG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0022 a0001c0008t0022	a0001c0008t0022g0104 a0001c0008t0022g0104	1	352	0.0028	24	c.153 others(41): Show c.153+2200_153+2201insGTCCTCCTCCTCCTCCTCCTCCTC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70948602	T T	TATATATA others(17): Show TATATATAGATGTGTATATATACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01255.hp1 HG00642.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0004 a0001c0016t0004 a0001c0001t0004 a0001c0016t0004	a0001c0001t0004g0178 a0001c0016t0004g0179 a0001c0001t0004g0178 a0001c0016t0004g0179	2	352	0.0057	24	c.362 others(41): Show c.362+1488_362+1511dupATGTGTATATATACACATATATAG	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70971115	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0282 a0001c0002t0016g0282	1	352	0.0028	24	c.604 others(41): Show c.604+2022_604+2045dupTTTTTTTTTTTTTTTTTTTTTTTT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	5/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70994396	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02735.hp1 HG03669.hp1 others(5): Show HG00733.hp1 HG02735.hp1 HG03669.hp1 NA18959.hp2 NA18986.hp2 NA19012.hp2 NA19060.hp1 NA19062.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0007 a0004c0011 a0001c0001 a0003c0007 a0004c0011	a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 others(4): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0055 a0003c0007t0015 a0004c0011t0032	a0001c0001t0004g0151 a0001c0001t0004g0168 a0001c0001t0008g0163 others(5): Show a0001c0001t0004g0151 a0001c0001t0004g0168 a0001c0001t0008g0163 a0001c0001t0010g0162 a0001c0001t0015g0202 a0001c0001t0055g0194 a0003c0007t0015g0160 a0004c0011t0032g0112	8	352	0.0227	24	c.244 others(43): Show c.2445-1334_2445-1311dupATATATATATATATATATATATAT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	7/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70994427	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18964.hp2 HG02698.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0208 a0001c0001t0004g0235 a0001c0001t0001g0208 a0001c0001t0004g0235	2	352	0.0057	24	c.244 others(43): Show c.2445-1311_2445-1310insATATATATATATATATATATGTAT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	7/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	71003080	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0139 a0001c0003t0013g0139	1	352	0.0028	24	c.263 others(43): Show c.2630-6534_2630-6533insTTTTTTTTTTTTTTTTTTTTTTTT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	8/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	71119428	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02109.hp2 NA18964.hp1 HG01891.hp2 HG02109.hp2 NA18964.hp1	a0001 a0006 a0016 a0001 a0006 a0016	a0001c0008 a0006c0009 a0016c0015 a0001c0008 a0006c0009 a0016c0015	a0001c0008t0022 a0006c0009t0015 a0016c0015t0063 a0001c0008t0022 a0006c0009t0015 a0016c0015t0063	a0001c0008t0022g0105 a0006c0009t0015g0145 a0016c0015t0063g0131 a0001c0008t0022g0105 a0006c0009t0015g0145 a0016c0015t0063g0131	3	352	0.0085	24	c.94 others(35): Show c.9493_*9494insTTTTTTTTTTTTTTTTTTTTTTTT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding		4047		chr14	TogoVar
PCNX2_chr1_232978435_233300725	233235955	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0043 a0001c0004t0001g0043	1	146	0.0069	24	c.235 others(41): Show c.2358+889_2358+890insATATATATATATATATATATATAT	PCNX2	ENSG00000135749.20	transcript	ENST00000258229.14	protein_coding	9/33			chr1	TogoVar
PCOLCE2_chr3_142812874_142894083	142882587	A A	ATTATTAT others(17): Show ATTATTATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0142 a0002c0002t0002g0142	1	342	0.0029	24	c.192 others(41): Show c.192+5081_192+5082insAAAAAAAAAAAAAAAAAATAATAA	PCOLCE2	ENSG00000163710.9	transcript	ENST00000295992.8	protein_coding	2/8			chr3	TogoVar
PCOLCE2_chr3_142812874_142894083	142893993	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0139 a0002c0002t0007g0139	1	342	0.0029	24	c.-50 others(35): Show c.-5098_-5097insAAAAAAAAAAAAAAAAAAAAAAAA	PCOLCE2	ENSG00000163710.9	transcript	ENST00000295992.8	protein_coding		4911		chr3	TogoVar
PCP4_chr21_39862438_39934392	39880130	G G	GTATCTAT others(17): Show GTATCTATATCTATATCTATATCTA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	428	0.0023	24	c.9+1 others(39): Show c.9+12658_9+12681dupATCTATATCTATATCTATATCTAT	PCP4	ENSG00000183036.11	transcript	ENST00000328619.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK1_chr5_96385333_96438248	96412752	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0051 a0001c0007t0003g0051	1	392	0.0026	24	c.710 others(39): Show c.710-263_710-262insAAAAAAAAAAAAAAAAAAAAAAAA	PCSK1	ENSG00000175426.11	transcript	ENST00000311106.8	protein_coding	6/13			chr5	TogoVar
PCSK2_chr20_17222040_17489578	17333910	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp2 HG01081.hp1 others(36): Show HG00597.hp2 HG00621.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01891.hp2 HG01943.hp1 HG02015.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02896.hp2 HG03209.hp1 HG03540.hp1 HG06807.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18959.hp2 NA18963.hp2 NA18977.hp1 NA18980.hp2 NA18992.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19079.hp2 NA19081.hp1 NA19088.hp1 NA19091.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0003 a0001c0001 a0001c0013 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0038 a0001c0001t0043 a0001c0001t0047 a0001c0001t0053 a0001c0001t0059 a0001c0013t0001 a0002c0003t0004	a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0002g0156 others(36): Show a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0002g0156 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0194 a0001c0001t0002g0228 a0001c0001t0002g0257 a0001c0001t0003g0171 a0001c0001t0003g0270 a0001c0001t0004g0045 a0001c0001t0004g0047 a0001c0001t0004g0054 a0001c0001t0004g0203 a0001c0001t0005g0107 a0001c0001t0006g0122 a0001c0001t0007g0101 a0001c0001t0008g0182 a0001c0001t0009g0196 a0001c0001t0010g0024 a0001c0001t0010g0029 a0001c0001t0010g0272 a0001c0001t0012g0136 a0001c0001t0013g0206 a0001c0001t0013g0236 a0001c0001t0014g0111 a0001c0001t0019g0105 a0001c0001t0020g0058 a0001c0001t0022g0200 a0001c0001t0029g0226 a0001c0001t0030g0168 a0001c0001t0038g0267 a0001c0001t0043g0205 a0001c0001t0047g0235 a0001c0001t0053g0116 a0001c0001t0059g0095 a0001c0013t0001g0262 a0002c0003t0004g0173 a0002c0003t0004g0174	39	274	0.1423	24	c.283 others(43): Show c.283-24414_283-24391dupATATATATATATATATATATATAT	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK2_chr20_17222040_17489578	17391906	G G	GAGGAAGG others(17): Show GAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG00609.hp2 others(31): Show HG00323.hp2 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG01070.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01256.hp1 HG01258.hp1 HG01433.hp1 HG01934.hp1 HG01943.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02451.hp1 HG02622.hp1 HG02818.hp2 HG02895.hp1 HG03130.hp2 HG03486.hp2 NA18948.hp1 NA18951.hp2 NA18956.hp2 NA18961.hp1 NA18964.hp1 NA18980.hp2 NA19002.hp1 NA19005.hp2 NA19010.hp1 NA19012.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0026 a0001c0001t0043 a0001c0001t0056 a0001c0001t0060 a0002c0003t0004	a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0131 others(31): Show a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0131 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0002g0030 a0001c0001t0002g0156 a0001c0001t0002g0194 a0001c0001t0003g0002 a0001c0001t0003g0140 a0001c0001t0005g0092 a0001c0001t0006g0078 a0001c0001t0006g0197 a0001c0001t0006g0207 a0001c0001t0006g0238 a0001c0001t0007g0013 a0001c0001t0007g0101 a0001c0001t0007g0103 a0001c0001t0008g0031 a0001c0001t0008g0151 a0001c0001t0009g0097 a0001c0001t0013g0236 a0001c0001t0016g0089 a0001c0001t0016g0091 a0001c0001t0018g0102 a0001c0001t0019g0011 a0001c0001t0026g0153 a0001c0001t0043g0205 a0001c0001t0056g0015 a0001c0001t0060g0061 a0002c0003t0004g0173 a0002c0003t0004g0174	34	274	0.1241	24	c.544 others(43): Show c.544-17337_544-17314dupAAGGAAGGAAGGAAGGAAGGAAGG	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK2_chr20_17222040_17489578	17391912	G G	GGAAGGAA others(17): Show GGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0022 a0001c0001t0011g0022	1	274	0.0037	24	c.544 others(43): Show c.544-17328_544-17327insAGAAGGAAGGAAGGAAGGAAGGAA	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK4_chr19_1476428_1495350	1493708	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(92): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01433.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02129.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03710.hp1 HG04115.hp1 HG04228.hp1 NA18747.hp2 NA18951.hp2 NA18954.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18969.hp1 NA18982.hp1 NA18984.hp1 NA18993.hp2 NA18997.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA19074.hp2 NA19077.hp1 NA19083.hp1 NA19083.hp2 NA19087.hp1 NA20129.hp1 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009 a0011 a0013 a0016	a0001c0001 a0001c0007 a0001c0025 others(10): Show a0001c0001 a0001c0007 a0001c0025 a0001c0032 a0002c0004 a0003c0003 a0004c0006 a0006c0026 a0007c0010 a0009c0014 a0011c0022 a0013c0031 a0016c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0007t0003 a0001c0025t0002 a0001c0032t0002 a0002c0004t0001 a0002c0004t0003 a0003c0003t0003 a0004c0006t0001 a0006c0026t0002 a0007c0010t0002 a0009c0014t0002 a0011c0022t0001 a0013c0031t0003 a0016c0020t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(48): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0002g0002 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0029 a0001c0001t0002g0094 a0001c0001t0002g0102 a0001c0001t0002g0116 a0001c0001t0002g0119 a0001c0001t0002g0128 a0001c0001t0002g0136 a0001c0001t0003g0083 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0127 a0001c0001t0006g0027 a0001c0001t0008g0130 a0001c0007t0003g0034 a0001c0007t0003g0098 a0001c0007t0003g0149 a0001c0025t0002g0125 a0001c0032t0002g0168 a0002c0004t0001g0025 a0002c0004t0003g0162 a0003c0003t0003g0005 a0003c0003t0003g0146 a0003c0003t0003g0150 a0004c0006t0001g0157 a0006c0026t0002g0141 a0007c0010t0002g0046 a0009c0014t0002g0045 a0011c0022t0001g0070 a0013c0031t0003g0166 a0016c0020t0002g0138	95	400	0.2375	24	c.-33 others(35): Show c.-3386_-3363dupGTGTGTGTGTGTGTGTGTGTGTGT	PCSK4	ENSG00000115257.15	transcript	ENST00000300954.10	protein_coding		3359		chr19	TogoVar
PCSK5_chr9_75885673_76367975	76351503	A A	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04228.hp1 HG04115.hp1 HG04228.hp1	a0001 a0006 a0001 a0006	a0001c0004 a0006c0012 a0001c0004 a0006c0012	a0001c0004t0006 a0006c0012t0006 a0001c0004t0006 a0006c0012t0006	a0001c0004t0006g0001 a0006c0012t0006g0023 a0001c0004t0006g0001 a0006c0012t0006g0023	2	166	0.0121	24	c.506 others(41): Show c.5067+578_5067+579insGGAAGGAAGGAAGGAAGGAAGGAA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	36/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK6_chr15_101298933_101494707	101311962	C C	CCCCTCAC others(17): Show CCCCTCACAGCCCACCCCATCGTCA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG01975.hp2 others(12): Show HG00558.hp2 HG00621.hp2 HG01975.hp2 HG02165.hp1 HG02897.hp2 NA18939.hp1 NA18941.hp2 NA18950.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18986.hp2 NA19088.hp1 NA19091.hp2 NA20300.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0015 a0019	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0013 a0001c0057 a0003c0024 a0003c0064 a0004c0069 a0015c0050 a0019c0065	a0001c0001t0001 a0001c0002t0004 a0001c0004t0004 others(8): Show a0001c0001t0001 a0001c0002t0004 a0001c0004t0004 a0001c0005t0004 a0001c0013t0004 a0001c0057t0004 a0003c0024t0004 a0003c0064t0004 a0004c0069t0004 a0015c0050t0004 a0019c0065t0004	a0001c0001t0001g0246 a0001c0002t0004g0185 a0001c0002t0004g0240 others(12): Show a0001c0001t0001g0246 a0001c0002t0004g0185 a0001c0002t0004g0240 a0001c0004t0004g0042 a0001c0004t0004g0087 a0001c0004t0004g0131 a0001c0005t0004g0205 a0001c0005t0004g0219 a0001c0013t0004g0132 a0001c0057t0004g0222 a0003c0024t0004g0315 a0003c0064t0004g0317 a0004c0069t0004g0334 a0015c0050t0004g0229 a0019c0065t0004g0322	15	336	0.0446	24	c.269 others(43): Show c.2699+1413_2699+1414insTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311962	C C	CCCCTCAC others(17): Show CCCCTCACAGCTCACCCCATCGTCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp1 NA18954.hp1 HG02055.hp1 HG02622.hp1 NA18954.hp1	a0001 a0014 a0001 a0014	a0001c0003 a0014c0046 a0001c0003 a0014c0046	a0001c0003t0001 a0001c0003t0002 a0014c0046t0001 a0001c0003t0001 a0001c0003t0002 a0014c0046t0001	a0001c0003t0001g0142 a0001c0003t0002g0120 a0014c0046t0001g0242 a0001c0003t0001g0142 a0001c0003t0002g0120 a0014c0046t0001g0242	3	336	0.0089	24	c.269 others(43): Show c.2699+1413_2699+1414insTGACGATGGGGTGAGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312088	C C	CCCCTCAC others(17): Show CCCCTCACAGCCCACCCCATCGTCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(15): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01255.hp2 HG01257.hp1 HG01361.hp1 HG01981.hp2 HG02109.hp1 HG02523.hp2 HG02602.hp1 HG03490.hp1 HG03492.hp1 HG04199.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0011 a0001c0012 a0001c0037 a0001c0047 a0005c0014	a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 others(9): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 a0001c0004t0002 a0001c0005t0002 a0001c0006t0002 a0001c0010t0002 a0001c0011t0002 a0001c0012t0002 a0001c0037t0002 a0001c0047t0002 a0005c0014t0001	a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0002t0002g0150 others(15): Show a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0002t0002g0150 a0001c0002t0002g0235 a0001c0002t0002g0239 a0001c0003t0002g0054 a0001c0004t0002g0071 a0001c0004t0002g0078 a0001c0005t0002g0256 a0001c0006t0002g0035 a0001c0006t0002g0096 a0001c0010t0002g0169 a0001c0010t0002g0190 a0001c0011t0002g0167 a0001c0012t0002g0119 a0001c0037t0002g0063 a0001c0047t0002g0166 a0005c0014t0001g0077	18	336	0.0536	24	c.269 others(43): Show c.2699+1287_2699+1288insTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312088	C C	CCCCTCAC others(17): Show CCCCTCACAGCTCACCCCATCGTCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02809.hp1 HG02055.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0092 a0001c0003t0001g0142 a0001c0003t0001g0092 a0001c0003t0001g0142	2	336	0.0060	24	c.269 others(43): Show c.2699+1287_2699+1288insTGACGATGGGGTGAGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101342129	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0006 a0006	a0006c0029 a0006c0029	a0006c0029t0001 a0006c0029t0001	a0006c0029t0001g0006 a0006c0029t0001g0006	1	336	0.0030	24	c.185 others(45): Show c.1859-10122_1859-10099dupTTTTTTTTTTTTTTTTTTTTTTTT	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	13/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101412691	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0005 a0001c0019t0005	a0001c0019t0005g0304 a0001c0019t0005g0304	1	336	0.0030	24	c.824 others(43): Show c.824-14116_824-14115insTATATATATATATATATATATATA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	6/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101412712	T T	TATATATA others(17): Show TATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02735.hp1 HG02698.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0213 a0001c0004t0002g0046 a0001c0001t0002g0213 a0001c0004t0002g0046	2	336	0.0060	24	c.824 others(43): Show c.824-14137_824-14136insTTATATATATATATATATATATAT	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	6/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101454976	G G	GAATAAAT others(17): Show GAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0001 a0002c0031t0001	a0002c0031t0001g0008 a0002c0031t0001g0008	1	336	0.0030	24	c.298 others(43): Show c.298-11317_298-11316insTATTTATTTATTTATTTATTTATT	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	1/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101454980	G G	GAATAAAT others(17): Show GAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01109.hp1 HG01243.hp1 others(2): Show HG00673.hp1 HG01109.hp1 HG01243.hp1 HG02615.hp1 HG02622.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0018 a0005c0051	a0001c0001t0002 a0001c0002t0003 a0001c0004t0002 others(2): Show a0001c0001t0002 a0001c0002t0003 a0001c0004t0002 a0002c0018t0001 a0005c0051t0001	a0001c0001t0002g0292 a0001c0002t0003g0272 a0001c0004t0002g0097 others(2): Show a0001c0001t0002g0292 a0001c0002t0003g0272 a0001c0004t0002g0097 a0002c0018t0001g0025 a0005c0051t0001g0263	5	336	0.0149	24	c.298 others(43): Show c.298-11321_298-11320insTATTTATTTATTTATTTATTTATT	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	1/21			chr15	TogoVar
PCSK7_chr11_117199337_117237073	117215364	T T	TTTTGTGT others(17): Show TTTTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03927.hp1 HG04199.hp1 others(3): Show HG03831.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp1 NA18955.hp1 NA18969.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0016 a0002c0005t0005g0069 a0002c0005t0005g0070 others(2): Show a0002c0005t0005g0016 a0002c0005t0005g0069 a0002c0005t0005g0070 a0002c0005t0005g0147 a0002c0005t0005g0279	6	460	0.0130	24	c.153 others(43): Show c.1534+3101_1534+3102insCACACACACACACACACACACAAA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(17): Show GTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0421 a0001c0001t0001g0421	1	460	0.0022	24	c.153 others(43): Show c.1534+3085_1534+3086insTATATATATATATATACACACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0008 a0008	a0008c0028 a0008c0028	a0008c0028t0012 a0008c0028t0012	a0008c0028t0012g0389 a0008c0028t0012g0389	1	460	0.0022	24	c.153 others(43): Show c.1534+3085_1534+3086insTACACACACACACACACACACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCYOX1L_chr5_149353046_149374653	149361896	T T	TGTGATTA others(17): Show TGTGATTACAGGCGTGAGCCACCGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG02280.hp2 others(17): Show HG01243.hp1 HG01243.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03540.hp2 NA18522.hp1	a0001 a0005 a0007 others(1): Show a0001 a0005 a0007 a0009	a0001c0001 a0005c0005 a0007c0006 others(1): Show a0001c0001 a0005c0005 a0007c0006 a0009c0010	a0001c0001t0001 a0001c0001t0003 a0005c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0005c0005t0001 a0007c0006t0001 a0009c0010t0001	a0001c0001t0001g0006 a0001c0001t0003g0006 a0005c0005t0001g0010 others(3): Show a0001c0001t0001g0006 a0001c0001t0003g0006 a0005c0005t0001g0010 a0007c0006t0001g0006 a0007c0006t0001g0026 a0009c0010t0001g0033	20	372	0.0538	24	c.89- others(37): Show c.89-739_89-716dupTGATTACAGGCGTGAGCCACCGCG	PCYOX1L	ENSG00000145882.11	transcript	ENST00000274569.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCYOX1L_chr5_149353046_149374653	149361909	G G	GTGAGCCA others(17): Show GTGAGCCACCGCGTGATTACAGGCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	372	0.0027	24	c.89- others(37): Show c.89-716_89-715insTGATTACAGGCATGAGCCACCGCG	PCYOX1L	ENSG00000145882.11	transcript	ENST00000274569.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCYT1B_chrX_24553087_24652347	24593441	C C	CTTTCTTT others(17): Show CTTTCTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0140 a0001c0001t0076g0140	1	260	0.0039	24	c.335 others(41): Show c.335-3268_335-3267insAGAAAAGAAAAGAAAAGAAAGAAA	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	3/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0160 a0001c0002t0003g0160	1	260	0.0039	24	c.117 others(41): Show c.117+9497_117+9498insATATATATATATATATTTTTTTTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24648449	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0069 a0001c0002t0069	a0001c0002t0069g0168 a0001c0002t0069g0168	1	260	0.0039	24	c.-13 others(35): Show c.-1368_-1345dupAAAAAAAAAAAAAAAAAAAAAAAA	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding		1103		chrX	TogoVar
PDCD6IP_chr3_33793630_33874703	33814600	A A	ATGTATTA others(17): Show ATGTATTATATATGCACATATAATG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG02280.hp1 others(8): Show HG01891.hp1 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02809.hp2 HG02895.hp2 HG02976.hp1 HG03098.hp1 HG03471.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0011 a0001c0001t0016 a0001c0005t0004 others(3): Show a0001c0001t0011 a0001c0001t0016 a0001c0005t0004 a0001c0005t0008 a0001c0007t0005 a0001c0007t0008	a0001c0001t0011g0162 a0001c0001t0016g0166 a0001c0005t0004g0168 others(8): Show a0001c0001t0011g0162 a0001c0001t0016g0166 a0001c0005t0004g0168 a0001c0005t0008g0169 a0001c0007t0005g0153 a0001c0007t0005g0160 a0001c0007t0005g0161 a0001c0007t0005g0163 a0001c0007t0005g0164 a0001c0007t0005g0167 a0001c0007t0008g0165	11	318	0.0346	24	c.334 others(40): Show c.334+983_334+1006dupATGCACATATAATGTGTATTATAT	PDCD6IP	ENSG00000170248.15	transcript	ENST00000307296.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDCD6IP_chr3_33793630_33874703	33814611	A A	ATGCACAT others(17): Show ATGCACATATAATGTGTATTATATG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03017.hp2 HG03834.hp2 others(7): Show HG02165.hp2 HG03017.hp2 HG03834.hp2 NA18946.hp2 NA18979.hp1 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19085.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(7): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063	10	318	0.0315	24	c.334 others(40): Show c.334+988_334+1011dupCATATAATGTGTATTATATGTGCA	PDCD6IP	ENSG00000170248.15	transcript	ENST00000307296.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDE10A_chr6_165322289_165668241	165406228	A A	ATATGTGT others(17): Show ATATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03486.hp1 HG02717.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0030 a0001c0002t0004 a0001c0002t0030	a0001c0002t0004g0062 a0001c0002t0030g0086 a0001c0002t0004g0062 a0001c0002t0030g0086	2	222	0.0090	24	c.207 others(43): Show c.2076+7272_2076+7273insCACACACACACACACACACACATA	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	13/21			chr6	TogoVar
PDE10A_chr6_165322289_165668241	165425770	C C	CATATGTG others(17): Show CATATGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0040 a0001c0003t0002g0040	1	222	0.0045	24	c.165 others(43): Show c.1653+2887_1653+2888insACACACACACACACACACACATAT	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	10/21			chr6	TogoVar
PDE10A_chr6_165322289_165668241	165542612	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03471.hp2 HG02273.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0001 a0001c0021t0003 a0001c0001t0001 a0001c0021t0003	a0001c0001t0001g0182 a0001c0021t0003g0085 a0001c0001t0001g0182 a0001c0021t0003g0085	2	222	0.0090	24	c.994 others(39): Show c.994+804_994+827dupAAAAAAAAAAAAAAAAAAAAAAAA	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	2/21			chr6	TogoVar
PDE11A_chr2_177618244_178077777	177666904	A A	AATTTATT others(17): Show AATTTATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18950.hp1 HG02809.hp2 NA18950.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0023 a0002c0002t0001 a0001c0003t0023 a0002c0002t0001	a0001c0003t0023g0091 a0002c0002t0001g0135 a0001c0003t0023g0091 a0002c0002t0001g0135	2	170	0.0118	24	c.256 others(43): Show c.2562+2565_2562+2588dupAAATAAATAAATAAATAAATAAAT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	18/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177819860	T T	TTCTCTTT others(17): Show TTCTCTTTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0015 a0001c0005t0015	a0001c0005t0015g0012 a0001c0005t0015g0012	1	170	0.0059	24	c.157 others(41): Show c.1576+359_1576+360insGAGAGAGAGAGAGAGAGAAAGAGA	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	7/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177944803	G G	GCTCTCCC others(17): Show GCTCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01978.hp1 HG02738.hp1 others(1): Show HG01099.hp1 HG01978.hp1 HG02738.hp1 HG03490.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0015 a0002c0004t0001 a0002c0004t0004 others(1): Show a0001c0003t0015 a0002c0004t0001 a0002c0004t0004 a0002c0004t0041	a0001c0003t0015g0140 a0002c0004t0001g0125 a0002c0004t0004g0116 others(1): Show a0001c0003t0015g0140 a0002c0004t0001g0125 a0002c0004t0004g0116 a0002c0004t0041g0122	4	170	0.0235	24	c.107 others(45): Show c.1072-39640_1072-39617dupGGAGAGGGAGAGGGAGAGGGAGAG	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177946279	G G	GCGCCTCT others(17): Show GCGCCTCTGCCCGGCCGCCCCTACT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG03209.hp1 others(2): Show HG01243.hp1 HG01884.hp1 HG03209.hp1 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 others(1): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0010t0008	a0001c0001t0005g0060 a0001c0001t0005g0062 a0001c0001t0010g0059 others(2): Show a0001c0001t0005g0060 a0001c0001t0005g0062 a0001c0001t0010g0059 a0001c0001t0014g0063 a0001c0010t0008g0061	5	170	0.0294	24	c.107 others(45): Show c.1072-41093_1072-41092insAGTAGGGGCGGCCGGGCAGAGGCG	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDE1A_chr2_182135041_182432036	182242926	C C	CTCTCTCG others(17): Show CTCTCTCGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18939.hp2 NA18989.hp1 HG03225.hp2 NA18939.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0024 a0001c0001t0003 a0001c0001t0024	a0001c0001t0003g0059 a0001c0001t0003g0190 a0001c0001t0024g0250 a0001c0001t0003g0059 a0001c0001t0003g0190 a0001c0001t0024g0250	3	264	0.0114	24	c.168 others(41): Show c.168-2635_168-2634insACACACACACACACACACGAGAGA	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	2/14			chr2	TogoVar
PDE1A_chr2_182135041_182432036	182242926	C C	CTCTCTCT others(17): Show CTCTCTCTCGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	264	0.0038	24	c.168 others(41): Show c.168-2635_168-2634insACACACACACACACACGAGAGAGA	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	2/14			chr2	TogoVar
PDE1A_chr2_182135041_182432036	182242943	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02717.hp1 HG03490.hp1 others(1): Show HG01074.hp1 HG02717.hp1 HG03490.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0044 a0001c0001t0002 a0001c0001t0010 a0001c0001t0044	a0001c0001t0002g0163 a0001c0001t0010g0176 a0001c0001t0010g0235 others(1): Show a0001c0001t0002g0163 a0001c0001t0010g0176 a0001c0001t0010g0235 a0001c0001t0044g0116	4	264	0.0152	24	c.168 others(41): Show c.168-2652_168-2651insAACACACACACACACACACACACA	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	2/14			chr2	TogoVar
PDE1A_chr2_182135041_182432036	182264878	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02976.hp1 NA18943.hp2 others(1): Show HG02559.hp1 HG02976.hp1 NA18943.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0001 a0001c0001t0009 a0001c0001t0011	a0001c0001t0001g0196 a0001c0001t0001g0211 a0001c0001t0009g0243 others(1): Show a0001c0001t0001g0196 a0001c0001t0001g0211 a0001c0001t0009g0243 a0001c0001t0011g0121	4	264	0.0152	24	c.54- others(37): Show c.54-465_54-464insATATATATATATATATATATATAT	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE1A_chr2_182135041_182432036	182364466	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0008 a0001c0001t0011	a0001c0001t0008g0036 a0001c0001t0011g0037 a0001c0001t0008g0036 a0001c0001t0011g0037	2	264	0.0076	24	c.53+ others(41): Show c.53+62088_53+62111dupTTTTTTTTTTTTTTTTTTTTTTTT	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE1A_chr2_182135041_182432036	182385640	G G	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03490.hp2 HG03453.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0015 a0001c0001t0007 a0001c0001t0015	a0001c0001t0007g0226 a0001c0001t0015g0008 a0001c0001t0007g0226 a0001c0001t0015g0008	2	264	0.0076	24	c.53+ others(41): Show c.53+40937_53+40938insTCTTTCTTTCTTTCTTTCTTTCTT	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE1C_chr7_31746179_32075407	31794081	C C	CAGATAGA others(17): Show CAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0228 a0001c0006t0001g0228	1	262	0.0038	24	c.189 others(45): Show c.1891+14949_1891+14950insATCTATCTATCTATCTATCTATCT	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	16/17			chr7	TogoVar

Search by Variant

Search

Search Results