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
PLIN2_chr9_19110761_19132492	19127576	GCCCTGTC others(12): Show GCCCTGTCCCAAGCCCGAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG03486.hp2 HG02055.hp2 HG03486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0036 a0001c0005t0001g0036	2	448	0.0045	-19	c.-19 others(28): Show c.-199_-181delACTCGGGCTTGGGACAGGG	PLIN2	ENSG00000147872.10	transcript	ENST00000276914.7	protein_coding		85		chr9	TogoVar
PLK1_chr16_23673889_23695367	23684957	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA19076.hp1 HG01993.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0001 a0001c0001t0001 a0001c0015t0001	a0001c0001t0001g0037 a0001c0015t0001g0037 a0001c0001t0001g0037 a0001c0015t0001g0037	2	354	0.0057	-19	c.103 others(36): Show c.1036+892_1036+910delTTTTTTTTTTTTTTTTTTT	PLK1	ENSG00000166851.15	transcript	ENST00000300093.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
PLK4_chr4_127875893_127904224	127888177	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02965.hp1 HG03453.hp1 others(1): Show HG02647.hp1 HG02965.hp1 HG03453.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0163 a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0163	4	364	0.0110	-19	c.145 others(36): Show c.1459+698_1459+716delAAAAAAAAAAAAAAAAAAA	PLK4	ENSG00000142731.11	transcript	ENST00000270861.10	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
PLLP_chr16_57251097_57289672	57270242	TTCCCCAG others(12): Show TTCCCCAGCCCCCGAGTCCA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01123.hp2 HG03453.hp2 others(1): Show HG01106.hp2 HG01123.hp2 HG03453.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0001 a0001c0001t0007 a0001c0003t0001	a0001c0001t0007g0122 a0001c0003t0001g0036 a0001c0003t0001g0251 a0001c0001t0007g0122 a0001c0003t0001g0036 a0001c0003t0001g0251	4	370	0.0108	-19	c.136 others(36): Show c.136-8191_136-8173delTGGACTCGGGGGCTGGGGA	PLLP	ENSG00000102934.10	transcript	ENST00000219207.10	protein_coding	1/3			chr16	TogoVar
PLOD1_chr1_11929717_11980537	11948832	CCCTGCAG others(12): Show CCCTGCAGGGAGACGAGTAT	C C	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	380	0.0026	-19	c.168 others(34): Show c.168+770_168+788delCAGGGAGACGAGTATCCTG	PLOD1	ENSG00000083444.17	transcript	ENST00000196061.5	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLPP3_chr1_56489761_56584563	56581052	ATTTTTAG others(12): Show ATTTTTAGTAGAGATGGGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG02622.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0110 a0001c0001t0007g0111 a0001c0001t0006g0110 a0001c0001t0007g0111	2	336	0.0060	-19	c.-20 others(30): Show c.-2055_-2037delGCCCCATCTCTACTAAAAA	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding		1490		chr1	TogoVar
PLPPR1_chr9_101023727_101330135	101078171	AAGAAGAA others(12): Show AAGAAGAAGAAGAAGAGGAG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA20300.hp1 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0009 a0001c0001t0001g0011	2	203	0.0099	-19	c.-46 others(38): Show c.-46+49070_-46+49088delAGAAGAAGAAGAAGAGGAG	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7			chr9	TogoVar
PLS1_chr3_142591393_142718664	142600900	ATATATAT others(12): Show ATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	276	0.0036	-19	c.-37 others(36): Show c.-37+4393_-37+4411delATATATATATATATATTTT	PLS1	ENSG00000120756.13	transcript	ENST00000457734.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLSCR5_chr3_146580837_146610346	146583178	CCATTAAA others(12): Show CCATTAAACACTTCTCATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	416	0.0024	-19	c.27 others(30): Show c.2790_*2808delATATGAGAAGTGTTTAATG	PLSCR5	ENSG00000231213.7	transcript	ENST00000443512.2	protein_coding		2658		chr3	TogoVar
PLTP_chr20_45893622_45917155	45901768	GGCGCACA others(12): Show GGCGCACACCTGTAATCCCA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	432	0.0023	-19	c.117 others(36): Show c.1175+480_1175+498delTGGGATTACAGGTGTGCGC	PLTP	ENSG00000100979.15	transcript	ENST00000372431.8	protein_coding	12/15			chr20	TogoVar
PLVAP_chr19_17346455_17382342	17382265	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 NA20805.hp2 HG00323.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0206 a0001c0001t0001g0162 a0001c0001t0001g0206	2	436	0.0046	-19	c.-49 others(30): Show c.-4996_-4978delCTTTTTTTTTTTTTTTTTT	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4924		chr19	TogoVar
PLXDC2_chr10_19811432_20294856	19852425	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01069.hp2 HG01071.hp2 others(16): Show HG00673.hp2 HG01069.hp2 HG01071.hp2 HG01258.hp1 HG01261.hp1 HG01975.hp1 HG01978.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03239.hp1 HG03491.hp2 HG03688.hp2 NA18906.hp2 NA18945.hp1 NA18954.hp2 NA18961.hp2 NA18965.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 a0001c0001t0058 a0001c0001t0088 a0002c0002t0002 a0002c0002t0005 a0002c0002t0034 a0002c0002t0083 a0003c0003t0008 a0003c0003t0009 a0004c0004t0076 a0005c0006t0027 a0005c0006t0065 a0005c0006t0129	a0001c0001t0001g0029 a0001c0001t0003g0168 a0001c0001t0012g0028 others(16): Show a0001c0001t0001g0029 a0001c0001t0003g0168 a0001c0001t0012g0028 a0001c0001t0012g0176 a0001c0001t0014g0085 a0001c0001t0058g0041 a0001c0001t0088g0143 a0002c0002t0002g0112 a0002c0002t0005g0040 a0002c0002t0005g0083 a0002c0002t0005g0086 a0002c0002t0034g0094 a0002c0002t0083g0077 a0003c0003t0008g0114 a0003c0003t0009g0115 a0004c0004t0076g0129 a0005c0006t0027g0160 a0005c0006t0065g0010 a0005c0006t0129g0138	19	180	0.1056	-19	c.112 others(38): Show c.112+35256_112+35274delAAAAAAAAAAAAAAAAAAA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20130770	TCTATTAA others(12): Show TCTATTAATGTAGTATATCA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00673.hp2 HG00733.hp1 others(43): Show HG00323.hp2 HG00673.hp2 HG00733.hp1 HG01069.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01261.hp1 HG01261.hp2 HG01891.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02080.hp2 HG02129.hp2 HG02300.hp1 HG02896.hp1 HG02897.hp2 HG03017.hp1 HG03239.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04228.hp2 NA18747.hp1 NA18945.hp2 NA18954.hp1 NA18959.hp1 NA18961.hp1 NA18964.hp2 NA18965.hp2 NA18973.hp2 NA18978.hp2 NA18982.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 others(35): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0025 a0001c0001t0057 a0001c0001t0074 a0001c0001t0117 a0001c0005t0118 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0034 a0002c0002t0035 a0002c0002t0048 a0002c0002t0049 a0002c0002t0090 a0002c0002t0091 a0002c0002t0112 a0002c0002t0114 a0002c0002t0120 a0003c0003t0008 a0003c0003t0009 a0003c0003t0018 a0003c0003t0042 a0003c0003t0043 a0003c0003t0073 a0003c0003t0079 a0003c0003t0080 a0003c0003t0081 a0003c0003t0082 a0003c0003t0104 a0003c0003t0105 a0003c0003t0107 a0003c0003t0109 a0003c0003t0124 a0004c0004t0008 a0004c0004t0022	a0001c0001t0001g0029 a0001c0001t0011g0145 a0001c0001t0011g0146 others(43): Show a0001c0001t0001g0029 a0001c0001t0011g0145 a0001c0001t0011g0146 a0001c0001t0014g0085 a0001c0001t0015g0015 a0001c0001t0025g0026 a0001c0001t0025g0067 a0001c0001t0057g0162 a0001c0001t0074g0110 a0001c0001t0117g0060 a0001c0005t0118g0048 a0002c0002t0002g0167 a0002c0002t0002g0172 a0002c0002t0002g0175 a0002c0002t0005g0040 a0002c0002t0007g0037 a0002c0002t0007g0050 a0002c0002t0007g0058 a0002c0002t0034g0094 a0002c0002t0035g0116 a0002c0002t0048g0084 a0002c0002t0049g0069 a0002c0002t0090g0148 a0002c0002t0091g0149 a0002c0002t0112g0035 a0002c0002t0114g0064 a0002c0002t0120g0044 a0003c0003t0008g0018 a0003c0003t0008g0114 a0003c0003t0009g0020 a0003c0003t0009g0180 a0003c0003t0018g0091 a0003c0003t0042g0022 a0003c0003t0043g0025 a0003c0003t0073g0031 a0003c0003t0079g0090 a0003c0003t0080g0093 a0003c0003t0081g0092 a0003c0003t0082g0147 a0003c0003t0104g0081 a0003c0003t0105g0087 a0003c0003t0107g0070 a0003c0003t0109g0039 a0003c0003t0124g0059 a0004c0004t0008g0016 a0004c0004t0022g0065	46	180	0.2556	-19	c.542 others(38): Show c.542-12523_542-12505delTATTAATGTAGTATATCAC	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20272191	AAATTGGT others(12): Show AAATTGGTTTTCTAACCTGT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp1 NA18522.hp1 others(1): Show HG02145.hp1 HG02486.hp1 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0084 a0001c0001t0085 others(1): Show a0001c0001t0045 a0001c0001t0084 a0001c0001t0085 a0001c0001t0111	a0001c0001t0045g0061 a0001c0001t0084g0141 a0001c0001t0085g0103 others(1): Show a0001c0001t0045g0061 a0001c0001t0084g0141 a0001c0001t0085g0103 a0001c0001t0111g0049	4	180	0.0222	-19	c.147 others(38): Show c.1474-7511_1474-7493delAATTGGTTTTCTAACCTGT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	13/13			chr10	TogoVar
PLXNA4_chr7_132118340_132581470	132178729	CACTTGTA others(12): Show CACTTGTAAATGAAACACAT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	88	0.0114	-19	c.387 others(36): Show c.3874+939_3874+957delATGTGTTTCATTTACAAGT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	20/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132188998	GAGAGAGA others(12): Show GAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0011 a0001c0010t0011	a0001c0010t0011g0001 a0001c0010t0011g0001	1	88	0.0114	-19	c.285 others(38): Show c.2857-1410_2857-1392delTCTCTCTCTCTCTCTCTCT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	14/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132282610	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01081.hp1 HG01346.hp2 others(2): Show HG00099.hp1 HG01081.hp1 HG01346.hp2 HG01993.hp1 HG02165.hp1	a0001 a0001	a0001c0004 a0001c0009 a0001c0011 others(2): Show a0001c0004 a0001c0009 a0001c0011 a0001c0012 a0001c0027	a0001c0004t0001 a0001c0009t0001 a0001c0011t0001 others(2): Show a0001c0004t0001 a0001c0009t0001 a0001c0011t0001 a0001c0012t0002 a0001c0027t0002	a0001c0004t0001g0016 a0001c0009t0001g0009 a0001c0011t0001g0051 others(2): Show a0001c0004t0001g0016 a0001c0009t0001g0009 a0001c0011t0001g0051 a0001c0012t0002g0027 a0001c0027t0002g0026	5	88	0.0568	-19	c.150 others(40): Show c.1503+15462_1503+15480delTTTTTTTTTTTTTTTTTTT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	4/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132449617	TCTGTCAC others(12): Show TCTGTCACACATGACTGCCA	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0060 a0001c0003t0002g0060	1	88	0.0114	-19	c.137 others(40): Show c.1371+39656_1371+39674delTGGCAGTCATGTGTGACAG	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	3/31			chr7	TogoVar
PLXNC1_chr12_94143577_94312675	94201748	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01978.hp2 HG02109.hp1 others(2): Show HG01884.hp2 HG01978.hp2 HG02109.hp1 HG02258.hp2 HG02273.hp1	a0001 a0005 a0001 a0005	a0001c0004 a0001c0012 a0005c0023 others(1): Show a0001c0004 a0001c0012 a0005c0023 a0005c0046	a0001c0004t0001 a0001c0012t0002 a0005c0023t0001 others(1): Show a0001c0004t0001 a0001c0012t0002 a0005c0023t0001 a0005c0046t0001	a0001c0004t0001g0108 a0001c0012t0002g0214 a0005c0023t0001g0111 others(2): Show a0001c0004t0001g0108 a0001c0012t0002g0214 a0005c0023t0001g0111 a0005c0023t0001g0133 a0005c0046t0001g0049	5	298	0.0168	-19	c.144 others(38): Show c.1440-7822_1440-7804delTTTTTTTTTTTTTTTTTTT	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PML_chr15_73989716_74052827	74048578	ACCCCCCC others(12): Show ACCCCCCCTCCCCCCCCCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0010 a0001c0001t0009g0010	1	342	0.0029	-19	c.35 others(30): Show c.3571_*3589delCCCCCCCTCCCCCCCCCCC	PML	ENSG00000140464.20	transcript	ENST00000268058.8	protein_coding		752		chr15	TogoVar
PMM1_chr22_41571900_41594840	41572343	TCCACCCA others(12): Show TCCACCCACCCACCCACCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	330	0.0030	-19	c.49 others(30): Show c.4956_*4974delTGGGTGGGTGGGTGGGTGG	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4556		chr22	TogoVar
PMM2_chr16_8792839_8854325	8835235	GAAGGGAG others(12): Show GAAGGGAGTTGTTGTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0209 a0001c0001t0032g0209	1	408	0.0025	-19	c.640 others(38): Show c.640-12482_640-12464delGTTGTTGTTTTGTAAGGGA	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
PMP22_chr17_15224779_15270326	15226112	ATAATTGG others(12): Show ATAATTGGCTTAACAATTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02145.hp2 others(8): Show HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02630.hp2 HG02717.hp1 HG02970.hp1 HG03195.hp2 HG03209.hp1 HG03516.hp2 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0050 others(8): Show a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0050 a0001c0001t0006g0051 a0001c0001t0006g0055 a0001c0001t0006g0056 a0001c0001t0006g0066 a0001c0001t0006g0097 a0001c0001t0006g0157 a0001c0001t0011g0310 a0001c0001t0011g0312	11	426	0.0258	-19	c.47 others(30): Show c.4786_*4804delGAAATTGTTAAGCCAATTA	PMP22	ENSG00000109099.16	transcript	ENST00000312280.9	protein_coding		3666		chr17	TogoVar
PMS1_chr2_189779450_189882629	189802747	GATGGTTC others(12): Show GATGGTTCTAAACCAAGGAC	G G	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	234	0.0043	-19	c.316 others(36): Show c.316-2904_316-2886delATGGTTCTAAACCAAGGAC	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	3/12			chr2	TogoVar
PMS1_chr2_189779450_189882629	189864682	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	234	0.0043	-19	c.234 others(36): Show c.2342+456_2342+474delAAAAATATATATATATATA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189864688	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03225.hp2 NA20300.hp2 HG02055.hp1 HG03225.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0013	3	234	0.0128	-19	c.234 others(36): Show c.2342+461_2342+479delTATATATATATATATATAT	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12			chr2	TogoVar
PNKD_chr2_218265519_218351793	218324997	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02809.hp1 HG02717.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	2	280	0.0071	-19	c.237 others(38): Show c.237-14776_237-14758delTTTTTTTTTTTTTTTTTTT	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNMA5_chrX_152983824_152999116	152999007	ACAATGAG others(12): Show ACAATGAGGAAAGTGAGATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	286	0.0035	-19	c.-53 others(30): Show c.-5323_-5305delCATCTCACTTTCCTCATTG	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4892		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153391127	ACACACTC others(12): Show ACACACTCACACACACCATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02280.hp1 others(13): Show HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02622.hp1 HG02622.hp2 HG02896.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03540.hp2 NA18522.hp1 NA19030.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0012	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0012c0030	a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 others(5): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0009 a0002c0002t0015 a0004c0004t0006 a0004c0004t0022 a0012c0030t0001	a0001c0001t0001g0003 a0001c0001t0001g0034 a0002c0002t0002g0013 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0034 a0002c0002t0002g0013 a0002c0002t0002g0019 a0002c0002t0002g0145 a0002c0002t0004g0113 a0002c0002t0009g0016 a0002c0002t0015g0039 a0004c0004t0006g0021 a0004c0004t0006g0129 a0004c0004t0022g0067 a0012c0030t0001g0086	16	346	0.0462	-19	c.57 others(30): Show c.5760_*5778delCATGGTGTGTGTGAGTGTG	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding		4511		chrX	TogoVar
PNMA8B_chr19_46486191_46500867	46498944	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	426	0.0024	-19	c.-34 others(30): Show c.-3498_-3480delTTTTTTTTTTTTTTTTTTT	PNMA8B	ENSG00000204851.7	transcript	ENST00000599531.2	protein_coding		3078		chr19	TogoVar
PNPLA7_chr9_137454952_137555402	137503499	GGGAAGGA others(12): Show GGGAAGGAGAAGGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0115 a0007c0008t0001g0115	1	188	0.0053	-19	c.147 others(38): Show c.1474-1791_1474-1773delTCCTCCTCCTTCTCCTTCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137509243	ATTTAGCT others(12): Show ATTTAGCTGGCATGAGTGAG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	188	0.0053	-19	c.122 others(38): Show c.1226-3179_1226-3161delCTCACTCATGCCAGCTAAA	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	12/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137509364	TAGTACGA others(12): Show TAGTACGAATGAGTTTAGCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp1 HG02630.hp2 others(10): Show HG01891.hp1 HG02559.hp1 HG02630.hp2 HG02647.hp1 HG02897.hp1 HG02922.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp2 NA19030.hp2	a0003 a0005 a0012 others(2): Show a0003 a0005 a0012 a0014 a0039	a0003c0020 a0003c0068 a0005c0007 others(4): Show a0003c0020 a0003c0068 a0005c0007 a0005c0064 a0012c0012 a0014c0022 a0039c0067	a0003c0020t0001 a0003c0068t0001 a0005c0007t0002 others(5): Show a0003c0020t0001 a0003c0068t0001 a0005c0007t0002 a0005c0064t0002 a0012c0012t0001 a0012c0012t0002 a0014c0022t0001 a0039c0067t0001	a0003c0020t0001g0125 a0003c0020t0001g0126 a0003c0068t0001g0176 others(10): Show a0003c0020t0001g0125 a0003c0020t0001g0126 a0003c0068t0001g0176 a0005c0007t0002g0018 a0005c0007t0002g0019 a0005c0007t0002g0181 a0005c0007t0002g0182 a0005c0064t0002g0132 a0012c0012t0001g0166 a0012c0012t0002g0164 a0012c0012t0002g0165 a0014c0022t0001g0174 a0039c0067t0001g0167	13	188	0.0692	-19	c.122 others(38): Show c.1226-3300_1226-3282delGGCTAAACTCATTCGTACT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	12/34			chr9	TogoVar
PNPLA8_chr7_108465417_108531135	108505344	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0080 a0001c0001t0026g0080	1	390	0.0026	-19	c.120 others(38): Show c.1207-2721_1207-2703delAAAAAAAAAAATATATATA	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPLA8_chr7_108465417_108531135	108505346	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03486.hp1 NA18954.hp2 others(2): Show HG02572.hp2 HG03486.hp1 NA18954.hp2 NA19007.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0059 a0001c0001t0002g0074 others(1): Show a0001c0001t0002g0006 a0001c0001t0002g0059 a0001c0001t0002g0074 a0001c0001t0002g0081	5	390	0.0128	-19	c.120 others(38): Show c.1207-2723_1207-2705delAAAAAAAAAAAAATATATA	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPLA8_chr7_108465417_108531135	108505348	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	390	0.0026	-19	c.120 others(38): Show c.1207-2725_1207-2707delAAAAAAAAAAAAAAATATA	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPT1_chr2_55629061_55698844	55691866	ATATATAT others(12): Show ATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0218 a0002c0002t0002g0218	1	390	0.0026	-19	c.161 others(36): Show c.161+1778_161+1796delAAAAAAATATATATATATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
PNPT1_chr2_55629061_55698844	55691868	ATATATAT others(12): Show ATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03654.hp2 HG03453.hp1 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0041 a0002c0002t0002 a0002c0002t0041	a0002c0002t0002g0271 a0002c0002t0041g0272 a0002c0002t0002g0271 a0002c0002t0041g0272	2	390	0.0051	-19	c.161 others(36): Show c.161+1776_161+1794delAAAAAAAAATATATATATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
PNPT1_chr2_55629061_55698844	55691870	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03130.hp1 HG03209.hp1 HG02559.hp2 HG03130.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023	3	390	0.0077	-19	c.161 others(36): Show c.161+1774_161+1792delAAAAAAAAAAATATATATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
PNPT1_chr2_55629061_55698844	55691872	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG06807.hp2 HG01167.hp1 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0286 a0002c0002t0021g0287 a0002c0002t0021g0286 a0002c0002t0021g0287	2	390	0.0051	-19	c.161 others(36): Show c.161+1772_161+1790delAAAAAAAAAAAAATATATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
PNP_chr14_20464406_20482089	20468595	TAAATGTA others(12): Show TAAATGTAAATTTAATGTAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02486.hp1 HG01109.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0034 a0001c0001t0005g0034	2	448	0.0045	-19	c.-92 others(28): Show c.-929_-911delAAATGTAAATTTAATGTAA	PNP	ENSG00000198805.13	transcript	ENST00000361505.10	protein_coding		810		chr14	TogoVar
PNP_chr14_20464406_20482089	20468607	TAATGTAA others(12): Show TAATGTAAAAATGTAAATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00544.hp1 others(77): Show HG00280.hp2 HG00438.hp1 HG00544.hp1 HG00639.hp2 HG00733.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01978.hp2 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02155.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp1 HG03017.hp2 HG03139.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp2 HG03654.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp2 NA18960.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp2 NA18972.hp1 NA18974.hp1 NA18980.hp2 NA18982.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18995.hp1 NA18997.hp1 NA18999.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19063.hp2 NA19074.hp1 NA19077.hp1 NA19083.hp2 NA19087.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0002c0002t0001 a0002c0002t0006 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0006 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0035 others(24): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0083 a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0012 a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0033 a0002c0002t0001g0037 a0002c0002t0001g0052 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0006g0075 a0002c0003t0001g0081	80	448	0.1786	-19	c.-91 others(28): Show c.-917_-899delAATGTAAAAATGTAAATTA	PNP	ENSG00000198805.13	transcript	ENST00000361505.10	protein_coding		798		chr14	TogoVar
PODN_chr1_53057213_53090494	53087966	CCCTGCCC others(12): Show CCCTGCCCCTGGAGGCCTCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00438.hp1 others(72): Show HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp2 HG01069.hp2 HG01099.hp2 HG01106.hp2 HG01243.hp2 HG01358.hp1 HG01928.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp2 HG02735.hp1 HG02738.hp2 HG02895.hp2 HG03098.hp2 HG03471.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18961.hp1 NA18962.hp2 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp2 NA18980.hp1 NA18985.hp1 NA18990.hp2 NA18992.hp2 NA18997.hp1 NA18999.hp1 NA19000.hp1 NA19009.hp1 NA19010.hp1 NA19054.hp1 NA19064.hp1 NA19067.hp2 NA19070.hp2 NA19081.hp1 NA19087.hp1 NA19087.hp2 NA20905.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0010 a0001c0020 a0001c0022 a0002c0012 a0013c0024	a0001c0001t0001 a0001c0003t0003 a0001c0003t0008 others(10): Show a0001c0001t0001 a0001c0003t0003 a0001c0003t0008 a0001c0003t0011 a0001c0003t0013 a0001c0003t0020 a0001c0004t0005 a0001c0010t0003 a0001c0010t0008 a0001c0020t0003 a0001c0022t0001 a0002c0012t0003 a0013c0024t0005	a0001c0001t0001g0018 a0001c0003t0003g0006 a0001c0003t0003g0012 others(40): Show a0001c0001t0001g0018 a0001c0003t0003g0006 a0001c0003t0003g0012 a0001c0003t0003g0043 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0130 a0001c0003t0003g0131 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0003g0135 a0001c0003t0003g0170 a0001c0003t0008g0025 a0001c0003t0008g0061 a0001c0003t0008g0062 a0001c0003t0008g0063 a0001c0003t0008g0091 a0001c0003t0011g0040 a0001c0003t0011g0071 a0001c0003t0011g0073 a0001c0003t0011g0080 a0001c0003t0011g0090 a0001c0003t0011g0107 a0001c0003t0013g0006 a0001c0003t0013g0012 a0001c0003t0020g0006 a0001c0004t0005g0002 a0001c0004t0005g0054 a0001c0004t0005g0171 a0001c0004t0005g0174 a0001c0004t0005g0176 a0001c0010t0003g0175 a0001c0010t0008g0016 a0001c0010t0008g0032 a0001c0020t0003g0012 a0001c0022t0001g0018 a0002c0012t0003g0119 a0002c0012t0003g0123 a0002c0012t0003g0140 a0013c0024t0005g0179	75	402	0.1866	-19	c.34 others(30): Show c.3482_*3500delCCTGCCCCTGGAGGCCTCG	PODN	ENSG00000174348.14	transcript	ENST00000312553.10	protein_coding		2473		chr1	TogoVar
POGLUT1_chr3_119463963_119499708	119495225	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02809.hp2 others(7): Show HG02055.hp1 HG02280.hp2 HG02809.hp2 HG02922.hp2 HG02976.hp1 HG03130.hp1 HG03471.hp2 NA19003.hp2 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 others(3): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0021 a0001c0001t0041 a0001c0001t0042	a0001c0001t0005g0101 a0001c0001t0006g0025 a0001c0001t0006g0124 others(4): Show a0001c0001t0005g0101 a0001c0001t0006g0025 a0001c0001t0006g0124 a0001c0001t0008g0123 a0001c0001t0021g0012 a0001c0001t0041g0012 a0001c0001t0042g0012	10	422	0.0237	-19	c.27 others(30): Show c.2788_*2806delAAAAAAAAAAAAAAAAAAA	POGLUT1	ENSG00000163389.12	transcript	ENST00000295588.9	protein_coding		518		chr3	TogoVar
POLA1_chrX_24688918_25001986	24947246	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG02809.hp2 others(8): Show HG02451.hp1 HG02559.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03195.hp2 HG03486.hp2 NA18906.hp2 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011	11	197	0.0558	-19	c.426 others(40): Show c.4261+16718_4261+16736delTTTTTTTTTTTTTTTTTTT	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	36/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLD4_chr11_67345772_67358546	67347624	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	314	0.0032	-19	c.43 others(30): Show c.4352_*4370delATATATATATTTTTTTTTT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3147		chr11	TogoVar
POLD4_chr11_67345772_67358546	67347626	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0007	1	314	0.0032	-19	c.43 others(30): Show c.4350_*4368delATATATATATATTTTTTTT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3145		chr11	TogoVar
POLE2_chr14_49638555_49693214	49646302	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01346.hp2 HG01943.hp1 HG00741.hp2 HG01346.hp2 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0067 a0001c0001t0001g0078 a0001c0001t0001g0045 a0001c0001t0001g0067 a0001c0001t0001g0078	3	234	0.0128	-19	c.156 others(36): Show c.1565+972_1565+990delAAAAAAAAAAAAAAAAAAA	POLE2	ENSG00000100479.14	transcript	ENST00000216367.10	protein_coding	18/18			chr14	TogoVar
POLE2_chr14_49638555_49693214	49652058	GGGGTCCC others(12): Show GGGGTCCCTTTTTCCAATGA	G G	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	234	0.0043	-19	c.121 others(36): Show c.1212-700_1212-682delTCATTGGAAAAAGGGACCC	POLE2	ENSG00000100479.14	transcript	ENST00000216367.10	protein_coding	15/18			chr14	TogoVar
POLE2_chr14_49638555_49693214	49652263	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp2 HG03239.hp1 HG02040.hp1 HG02040.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0190 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0190	3	234	0.0128	-19	c.121 others(36): Show c.1212-905_1212-887delTTTTTTTTTTTTTTTTTTT	POLE2	ENSG00000100479.14	transcript	ENST00000216367.10	protein_coding	15/18			chr14	TogoVar

Search by Variant

Search

Search Results