Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PLPPR1_chr9_101023727_101330135	101246055	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0076 a0001c0001t0005g0076	1	203	0.0049	-24	c.64- others(41): Show c.64-23793_64-23770delTATATATATATATATATATATATA	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR5_chr1_98885245_99009861	99003056	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0175 a0001c0001t0007g0175	1	280	0.0036	-24	c.237 others(41): Show c.237+1355_237+1378delATATATATATATATATATATATAT	PLPPR5	ENSG00000117598.14	transcript	ENST00000263177.5	protein_coding	1/5			chr1	TogoVar
PLS1_chr3_142591393_142718664	142695761	CTTATTTA others(17): Show CTTATTTATTTATTTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02559.hp1 others(4): Show HG02257.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02723.hp2 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0236 a0001c0001t0005g0238 a0001c0001t0005g0239 others(4): Show a0001c0001t0005g0236 a0001c0001t0005g0238 a0001c0001t0005g0239 a0001c0001t0005g0240 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0250	7	276	0.0254	-24	c.125 others(43): Show c.1256+1241_1256+1264delATTTATTTATTTATTTATTTATTT	PLS1	ENSG00000120756.13	transcript	ENST00000457734.7	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLVAP_chr19_17346455_17382342	17349152	TTCTTTCT others(17): Show TTCTTTCTTTCTCTCTCTCTCTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA19000.hp2 NA19009.hp1 NA18989.hp1 NA19000.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148	3	436	0.0069	-24	c.31 others(35): Show c.3186_*3209delGAGAGAGAGAGAGAGAAAGAAAGA	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2302		chr19	TogoVar
PLXDC1_chr17_39058313_39156637	39091942	GAGTGAGA others(17): Show GAGTGAGACTCTATCTCAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0130 a0002c0003t0006g0131 a0002c0003t0006g0130 a0002c0003t0006g0131	2	320	0.0063	-24	c.812 others(41): Show c.812-4264_812-4241delTTTTTTTTGAGATAGAGTCTCACT	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	7/13			chr17	TogoVar
PLXDC1_chr17_39058313_39156637	39132290	GTCTCTGA others(17): Show GTCTCTGACTCAGCACATCCCAGGA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19054.hp1 HG02723.hp2 NA19054.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0017 a0003c0006t0001 a0001c0001t0017 a0003c0006t0001	a0001c0001t0017g0085 a0003c0006t0001g0030 a0001c0001t0017g0085 a0003c0006t0001g0030	2	320	0.0063	-24	c.255 others(41): Show c.255+7340_255+7363delTCCTGGGATGTGCTGAGTCAGAGA	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXDC2_chr10_19811432_20294856	19852425	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0039 a0004c0004t0039	a0004c0004t0039g0134 a0004c0004t0039g0134	1	180	0.0056	-24	c.112 others(43): Show c.112+35251_112+35274delAAAAAAAAAAAAAAAAAAAAAAAA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	19988776	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03453.hp1 HG02647.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0070 a0002c0002t0006 a0001c0001t0070 a0002c0002t0006	a0001c0001t0070g0005 a0002c0002t0006g0075 a0001c0001t0070g0005 a0002c0002t0006g0075	2	180	0.0111	-24	c.113 others(43): Show c.113-12985_113-12962delTTTTTTTTTTTTTTTTTTTTTTTT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20014358	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTCCTTCCTTG	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0023 a0003c0003t0023	a0003c0003t0023g0066 a0003c0003t0023g0066	1	180	0.0056	-24	c.324 others(43): Show c.324+12396_324+12419delGCTTCCTTCCTTCCTTCCTTCCTT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20014382	GCTTCCTT others(17): Show GCTTCCTTCCTTCCTTCCTTCCTTC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01258.hp2 others(1): Show HG01069.hp2 HG01071.hp2 HG01258.hp2 HG03654.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0122 a0002c0002t0005 a0002c0002t0024 a0001c0001t0122 a0002c0002t0005 a0002c0002t0024	a0001c0001t0122g0051 a0002c0002t0005g0083 a0002c0002t0005g0086 others(1): Show a0001c0001t0122g0051 a0002c0002t0005g0083 a0002c0002t0005g0086 a0002c0002t0024g0071	4	180	0.0222	-24	c.324 others(43): Show c.324+12421_324+12444delCTTCCTTCCTTCCTTCCTTCCTTC	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20044203	CTCTCTCT others(17): Show CTCTCTCTGTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0039 a0004c0004t0039	a0004c0004t0039g0134 a0004c0004t0039g0134	1	180	0.0056	-24	c.325 others(41): Show c.325-2662_325-2639delCTCTGTCTTTCTTTCTTTCTTTCT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20044211	GTCTTTCT others(17): Show GTCTTTCTTTCTTTCTTTCTTTCTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02080.hp1 HG04204.hp1 others(1): Show HG02055.hp1 HG02080.hp1 HG04204.hp1 NA18961.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0001c0001t0012 a0001c0001t0033 others(1): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0033 a0003c0003t0023	a0001c0001t0004g0096 a0001c0001t0012g0176 a0001c0001t0033g0127 others(1): Show a0001c0001t0004g0096 a0001c0001t0012g0176 a0001c0001t0033g0127 a0003c0003t0023g0066	4	180	0.0222	-24	c.325 others(41): Show c.325-2597_325-2574delTCTTTCTTTCTTTCTTTCTTTCTT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20051395	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01258.hp2 others(7): Show HG01069.hp2 HG01071.hp2 HG01258.hp2 HG02145.hp2 HG02451.hp2 HG02723.hp2 HG02897.hp1 NA18906.hp1 NA19084.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0086 a0001c0001t0088 a0001c0001t0102 others(5): Show a0001c0001t0086 a0001c0001t0088 a0001c0001t0102 a0002c0002t0005 a0002c0002t0006 a0002c0002t0024 a0002c0002t0026 a0003c0003t0043	a0001c0001t0086g0097 a0001c0001t0088g0143 a0001c0001t0102g0109 others(7): Show a0001c0001t0086g0097 a0001c0001t0088g0143 a0001c0001t0102g0109 a0002c0002t0005g0083 a0002c0002t0005g0086 a0002c0002t0006g0014 a0002c0002t0024g0043 a0002c0002t0024g0071 a0002c0002t0026g0136 a0003c0003t0043g0025	10	180	0.0556	-24	c.471 others(41): Show c.471+4405_471+4428delATATATATATATATATATATATAT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20072489	GAAAGAGA others(17): Show GAAAGAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0096 a0001c0001t0004g0096	1	180	0.0056	-24	c.541 others(41): Show c.541+4252_541+4275delAAGAGAAAGAAAGAAAGAAAGAAA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA2_chr1_208017242_208249384	208022027	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0171 a0001c0001t0008g0171	1	312	0.0032	-24	c.51 others(35): Show c.5192_*5215delACACACACACACACACACACACAC	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding		214		chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132178835	TACACATA others(17): Show TACACATATATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG01255.hp2 others(14): Show HG00621.hp2 HG00639.hp1 HG01255.hp2 HG01943.hp1 HG02055.hp1 HG02080.hp1 HG02257.hp2 HG02258.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03688.hp1 NA19043.hp2 NA19074.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0022 a0001c0033 a0001c0037 a0002c0036 a0005c0040	a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 others(10): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0002t0010 a0001c0003t0002 a0001c0022t0022 a0001c0033t0001 a0001c0037t0003 a0002c0036t0006 a0005c0040t0015	a0001c0001t0003g0072 a0001c0001t0003g0087 a0001c0001t0010g0053 others(14): Show a0001c0001t0003g0072 a0001c0001t0003g0087 a0001c0001t0010g0053 a0001c0001t0013g0086 a0001c0001t0014g0044 a0001c0002t0001g0003 a0001c0002t0003g0004 a0001c0002t0003g0005 a0001c0002t0003g0014 a0001c0002t0003g0064 a0001c0002t0010g0057 a0001c0003t0002g0060 a0001c0022t0022g0081 a0001c0033t0001g0042 a0001c0037t0003g0080 a0002c0036t0006g0031 a0005c0040t0015g0040	17	88	0.1932	-24	c.387 others(41): Show c.3874+828_3874+851delGTGTGTGTGTGTGTATATATGTGT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	20/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132259458	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAGAAAAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02258.hp1 HG02922.hp1 HG00639.hp1 HG02258.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0087 a0001c0002t0003g0005 a0001c0002t0003g0064 a0001c0001t0003g0087 a0001c0002t0003g0005 a0001c0002t0003g0064	3	88	0.0341	-24	c.150 others(45): Show c.1504-18316_1504-18293delCCTTTTTTCTTTTTTTTTTTTTTT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	4/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132563770	TTCCTCCT others(17): Show TTCCTCCTCCTCTTCCTCCTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02922.hp1 HG03540.hp1 others(1): Show HG02809.hp1 HG02922.hp1 HG03540.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0017 a0001c0001 a0001c0006 a0001c0017	a0001c0001t0003 a0001c0001t0013 a0001c0006t0007 others(1): Show a0001c0001t0003 a0001c0001t0013 a0001c0006t0007 a0001c0017t0003	a0001c0001t0003g0087 a0001c0001t0013g0086 a0001c0006t0007g0085 others(1): Show a0001c0001t0003g0087 a0001c0001t0013g0086 a0001c0006t0007g0085 a0001c0017t0003g0088	4	88	0.0455	-24	c.-87 others(43): Show c.-87+12628_-87+12651delGAAGGAGGAGGAAGAGGAGGAGGA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132563985	CCTCCTCC others(17): Show CCTCCTCCTCCTTCTCCTCCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03831.hp2 HG03927.hp2 HG02055.hp1 HG03831.hp2 HG03927.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0031 a0004c0015 a0005c0040 a0001c0031 a0004c0015 a0005c0040	a0001c0031t0002 a0004c0015t0001 a0005c0040t0015 a0001c0031t0002 a0004c0015t0001 a0005c0040t0015	a0001c0031t0002g0083 a0004c0015t0001g0084 a0005c0040t0015g0040 a0001c0031t0002g0083 a0004c0015t0001g0084 a0005c0040t0015g0040	3	88	0.0341	-24	c.-87 others(43): Show c.-87+12413_-87+12436delAAGGAGGAGGAGAAGGAGGAGGAG	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31			chr7	TogoVar
PLXNC1_chr12_94143577_94312675	94166524	GTATTATT others(17): Show GTATTATTATTATTATTATTATTAT	G G	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA18969.hp1 NA18995.hp2 others(1): Show HG03492.hp1 NA18969.hp1 NA18995.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0023 a0001c0002 a0001c0023	a0001c0002t0001 a0001c0023t0002 a0001c0002t0001 a0001c0023t0002	a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 others(1): Show a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0023t0002g0184	4	298	0.0134	-24	c.106 others(43): Show c.1063-2608_1063-2585delTTATTATTATTATTATTATTATTA	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLXNC1_chr12_94143577_94312675	94199454	GTGGGGAG others(17): Show GTGGGGAGCAAAGAGGAATATGTCC	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18522.hp2 HG03041.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0004 a0001c0009t0004 a0001c0002t0004 a0001c0009t0004	a0001c0002t0004g0189 a0001c0009t0004g0188 a0001c0002t0004g0189 a0001c0009t0004g0188	2	298	0.0067	-24	c.144 others(45): Show c.1440-10134_1440-10111delGGGGAGCAAAGAGGAATATGTCCT	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PMM1_chr22_41571900_41594840	41572343	TCCACCCA others(17): Show TCCACCCACCCACCCACCCACCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01884.hp1 HG00639.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0110 a0001c0001t0002g0061 a0001c0001t0001g0110 a0001c0001t0002g0061	2	330	0.0061	-24	c.49 others(35): Show c.4951_*4974delGTGGGTGGGTGGGTGGGTGGGTGG	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4556		chr22	TogoVar
PMM1_chr22_41571900_41594840	41572367	CCCACCCA others(17): Show CCCACCCACCCACCCACCCACCCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18980.hp1 NA18982.hp2 others(5): Show NA18951.hp1 NA18980.hp1 NA18982.hp2 NA18991.hp1 NA19009.hp2 NA19070.hp2 NA19083.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0027 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0117 a0001c0001t0001g0138	8	330	0.0242	-24	c.49 others(35): Show c.4927_*4950delATGGGTGGGTGGGTGGGTGGGTGG	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4532		chr22	TogoVar
PMM1_chr22_41571900_41594840	41572383	CCCACCCA others(17): Show CCCACCCATCCATCCATCCATCCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 NA19074.hp2 HG02145.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0098 a0001c0001t0001g0041 a0001c0001t0001g0098	2	330	0.0061	-24	c.49 others(35): Show c.4911_*4934delATGGATGGATGGATGGATGGGTGG	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4516		chr22	TogoVar
PMM1_chr22_41571900_41594840	41572387	CCCATCCA others(17): Show CCCATCCATCCATCCATCCATCCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG03492.hp1 HG01258.hp1 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0002c0002t0001g0033 a0001c0001t0001g0002 a0002c0002t0001g0033	2	330	0.0061	-24	c.49 others(35): Show c.4907_*4930delATGGATGGATGGATGGATGGATGG	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4512		chr22	TogoVar
PMM1_chr22_41571900_41594840	41593229	GAGAACTG others(17): Show GAGAACTGCAGTTTGGTCCTGGCTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	330	0.0030	-24	c.-34 others(35): Show c.-3448_-3425delTAGCCAGGACCAAACTGCAGTTCT	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		3390		chr22	TogoVar
PMS1_chr2_189779450_189882629	189864679	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	234	0.0043	-24	c.234 others(41): Show c.2342+453_2342+476delAAAAAAAATATATATATATATATA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189864681	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp1 HG03041.hp2 others(3): Show HG01891.hp2 HG02922.hp1 HG03041.hp2 HG03486.hp2 HG03540.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 others(3): Show a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0226	6	234	0.0256	-24	c.234 others(41): Show c.2342+455_2342+478delAAAAAATATATATATATATATATA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189864683	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02895.hp1 HG03130.hp1 HG01884.hp2 HG02895.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0218 a0001c0001t0003g0002 a0001c0001t0003g0218	3	234	0.0128	-24	c.234 others(41): Show c.2342+457_2342+480delAAAATATATATATATATATATATA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189864685	AAAATATA others(17): Show AAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02148.hp2 HG02165.hp1 others(1): Show HG02109.hp2 HG02148.hp2 HG02165.hp1 HG02273.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0007 a0001c0001 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0008c0007t0001 a0001c0001t0001 a0001c0001t0002 a0008c0007t0001	a0001c0001t0001g0172 a0001c0001t0002g0075 a0001c0001t0002g0083 others(1): Show a0001c0001t0001g0172 a0001c0001t0002g0075 a0001c0001t0002g0083 a0008c0007t0001g0005	4	234	0.0171	-24	c.234 others(41): Show c.2342+459_2342+482delAATATATATATATATATATATATA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189864687	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA19043.hp2 NA19057.hp2 HG02895.hp2 NA19043.hp2 NA19057.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0003c0004t0001 a0001c0001t0001 a0001c0001t0002 a0003c0004t0001	a0001c0001t0001g0003 a0001c0001t0002g0090 a0003c0004t0001g0228 a0001c0001t0001g0003 a0001c0001t0002g0090 a0003c0004t0001g0228	3	234	0.0128	-24	c.234 others(41): Show c.2342+484_2342+507delATATATATATATATATATATATAT	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS2_chr7_5965925_6014049	6013887	GCTGCAGT others(17): Show GCTGCAGTGGGCCATGATCACACCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0043 a0005c0006t0043	a0005c0006t0043g0317 a0005c0006t0043g0317	1	408	0.0025	-24	c.-48 others(35): Show c.-4892_-4869delGGGTGTGATCATGGCCCACTGCAG	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		4839		chr7	TogoVar
PNLIPRP3_chr10_116422847_116482957	116443797	GTGTGCAT others(17): Show GTGTGCATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp1 NA18906.hp1 others(1): Show HG02559.hp1 HG02615.hp1 NA18906.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0214 a0001c0001t0002g0215 others(1): Show a0001c0001t0002g0060 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217	4	288	0.0139	-24	c.325 others(39): Show c.325-583_325-560delGTGCATATATATATATATATATAT	PNLIPRP3	ENSG00000203837.5	transcript	ENST00000369230.4	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PNMA8C_chr19_46419697_46433936	46425462	CCTGTAGT others(17): Show CCTGTAGTCCCAGATACTCAGGAGG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01243.hp1 others(4): Show HG01070.hp2 HG01071.hp2 HG01243.hp1 HG01891.hp2 HG02055.hp1 HG02647.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0026 a0001c0001t0050 a0001c0001t0018 a0001c0001t0026 a0001c0001t0050	a0001c0001t0018g0000 a0001c0001t0026g0000 a0001c0001t0050g0000 a0001c0001t0018g0000 a0001c0001t0026g0000 a0001c0001t0050g0000	7	442	0.0158	-24	c.22 others(35): Show c.2259_*2282delCCTCCTGAGTATCTGGGACTACAG	PNMA8C	ENSG00000277531.3	transcript	ENST00000617053.3	protein_coding	1/1	2259		chr19	TogoVar
PNPLA6_chr19_7530717_7566764	7563453	CTATTATT others(17): Show CTATTATTATTATTATTATTATTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0345 a0004c0008t0001g0346 a0004c0008t0001g0345 a0004c0008t0001g0346	2	416	0.0048	-24	c.18 others(35): Show c.1892_*1915delTATTATTATTATTATTATTATTAT	PNPLA6	ENSG00000032444.17	transcript	ENST00000600737.6	protein_coding		1690		chr19	TogoVar
PNPLA7_chr9_137454952_137555402	137548731	GAGCGAGA others(17): Show GAGCGAGACTCCATCTCAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	188	0.0053	-24	c.31- others(39): Show c.31-1096_31-1073delTTTTTTTTGAGATGGAGTCTCGCT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	1/34			chr9	TogoVar
PNPLA8_chr7_108465417_108531135	108505300	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00673.hp2 HG01081.hp1 others(28): Show HG00099.hp1 HG00673.hp2 HG01081.hp1 HG01257.hp2 HG01516.hp1 HG01891.hp2 HG01934.hp1 HG02486.hp1 HG02615.hp2 HG02622.hp2 HG02698.hp2 HG02717.hp2 HG02895.hp1 HG02922.hp1 HG03209.hp1 HG03471.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 NA18939.hp2 NA18949.hp1 NA18953.hp1 NA18967.hp1 NA18978.hp2 NA18979.hp1 NA18994.hp1 NA19009.hp2 NA19066.hp1 NA19068.hp2 NA19079.hp2 NA19091.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0005c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0151 others(25): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0151 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0278 a0001c0001t0001g0300 a0001c0001t0001g0365 a0001c0001t0002g0025 a0001c0001t0014g0164 a0005c0009t0001g0155	31	390	0.0795	-24	c.120 others(43): Show c.1207-2682_1207-2659delTATATATATATATATATATATATA	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPLA8_chr7_108465417_108531135	108505330	ATATATAT others(17): Show ATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01106.hp2 HG02965.hp1 HG01069.hp2 HG01106.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0205 a0001c0001t0001g0280 a0001c0001t0001g0182 a0001c0001t0001g0205 a0001c0001t0001g0280	3	390	0.0077	-24	c.120 others(43): Show c.1207-2712_1207-2689delAATATATATATATATATATATATA	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPT1_chr2_55629061_55698844	55657856	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	1	390	0.0026	-24	c.128 others(43): Show c.1285-1509_1285-1486delTTTTTTTTTTTTTTTTTTTTTTTT	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	15/27			chr2	TogoVar
POC1B_chr12_89414718_89531047	89476697	AATAGATA others(17): Show AATAGATAGATAGATAGATAGATAG	A A	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	370	0.0027	-24	c.453 others(41): Show c.453-4446_453-4423delCTATCTATCTATCTATCTATCTAT	POC1B	ENSG00000139323.14	transcript	ENST00000313546.8	protein_coding	4/11			chr12	TogoVar
POC1B_chr12_89414718_89531047	89476739	TAGATAGA others(17): Show TAGATAGATAGATAGATAGATAGAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00733.hp1 HG01243.hp2 others(25): Show HG00621.hp1 HG00733.hp1 HG01243.hp2 HG01943.hp1 HG02135.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG02735.hp2 HG03704.hp1 NA18944.hp2 NA18947.hp1 NA18952.hp2 NA18967.hp1 NA18970.hp2 NA18973.hp2 NA18979.hp2 NA18982.hp1 NA19007.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19070.hp2 NA19076.hp1 NA19083.hp2 NA19086.hp2 NA19091.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0171 others(25): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0002g0110 a0001c0001t0002g0122 a0001c0001t0002g0130 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0148 a0001c0001t0002g0165 a0001c0001t0002g0209	28	370	0.0757	-24	c.453 others(41): Show c.453-4488_453-4465delGTCTATCTATCTATCTATCTATCT	POC1B	ENSG00000139323.14	transcript	ENST00000313546.8	protein_coding	4/11			chr12	TogoVar
PODXL_chr7_131495271_131561628	131499798	TATATATA others(17): Show TATATATATATATATATATACATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0027 a0002c0012t0027	a0002c0012t0027g0023 a0002c0012t0027g0023	1	440	0.0023	-24	c.44 others(35): Show c.4489_*4512delGTATGTATATATATATATATATAT	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		472		chr7	TogoVar
POGLUT1_chr3_119463963_119499708	119468586	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00423.hp2 others(70): Show HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01943.hp2 HG01993.hp1 HG02027.hp2 HG02080.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02738.hp1 HG03491.hp2 HG03492.hp1 NA18747.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18961.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18981.hp1 NA18983.hp2 NA18985.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19055.hp1 NA19057.hp1 NA19058.hp2 NA19064.hp2 NA19072.hp2 NA19074.hp1 NA19075.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp2 NA19088.hp1 NA19091.hp2 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0007 a0006c0009 a0001c0001 a0001c0007 a0006c0009	a0001c0001t0001 a0001c0001t0010 a0001c0001t0022 others(7): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0022 a0001c0001t0030 a0001c0001t0031 a0001c0001t0043 a0001c0001t0044 a0001c0001t0058 a0001c0007t0010 a0006c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0021 others(34): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0091 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0010g0030 a0001c0001t0010g0052 a0001c0001t0010g0131 a0001c0001t0010g0132 a0001c0001t0010g0138 a0001c0001t0022g0022 a0001c0001t0022g0032 a0001c0001t0022g0143 a0001c0001t0030g0050 a0001c0001t0031g0031 a0001c0001t0031g0134 a0001c0001t0043g0022 a0001c0001t0044g0052 a0001c0001t0058g0120 a0001c0007t0010g0135 a0006c0009t0001g0002	73	422	0.1730	-24	c.-43 others(33): Show c.-435_-412delACACACACACACACACACACACAC	POGLUT1	ENSG00000163389.12	transcript	ENST00000295588.9	protein_coding		376		chr3	TogoVar
POLA1_chrX_24688918_25001986	24806053	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00597.hp1 others(14): Show HG00544.hp1 HG00558.hp1 HG00597.hp1 HG01109.hp1 HG02129.hp1 HG02809.hp1 HG03486.hp1 HG03490.hp1 HG03540.hp2 HG03834.hp1 NA18944.hp1 NA18948.hp1 NA18952.hp1 NA18971.hp1 NA18986.hp1 NA19082.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0043 a0001c0001t0001g0048 others(14): Show a0001c0001t0001g0028 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0116 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189	17	197	0.0863	-24	c.296 others(43): Show c.2965-3812_2965-3789delTTTTTTTTTTTTTTTTTTTTTTTT	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLD1_chr19_50379347_50423014	50382107	GCGTGGAG others(17): Show GCGTGGAGGCGTTGCAGCAGCCCTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0133 a0001c0005t0001g0133	1	336	0.0030	-24	c.-22 others(35): Show c.-2284_-2261delCGTGGAGGCGTTGCAGCAGCCCTA	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding		2239		chr19	TogoVar
POLD2_chr7_44109680_44128548	44114097	GTGGAGCC others(17): Show GTGGAGCCCGAGTTTGAGACCCAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	-24	c.66 others(33): Show c.664_*687delACTGGGTCTCAAACTCGGGCTCCA	POLD2	ENSG00000106628.13	transcript	ENST00000610533.6	protein_coding		582		chr7	TogoVar
POLD4_chr11_67345772_67358546	67347627	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	314	0.0032	-24	c.43 others(35): Show c.4344_*4367delATATATATATATATATATTTTTTT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3144		chr11	TogoVar
POLD4_chr11_67345772_67358546	67347629	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	314	0.0032	-24	c.43 others(35): Show c.4342_*4365delATATATATATATATATATATTTTT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3142		chr11	TogoVar
POLE2_chr14_49638555_49693214	49652263	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	234	0.0043	-24	c.121 others(41): Show c.1212-910_1212-887delTTTTTTTTTTTTTTTTTTTTTTTT	POLE2	ENSG00000100479.14	transcript	ENST00000216367.10	protein_coding	15/18			chr14	TogoVar
POLE2_chr14_49638555_49693214	49681723	AAGATGGC others(17): Show AAGATGGCGCCATTGCAGTGAACCG	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	234	0.0043	-24	c.169 others(41): Show c.169+1846_169+1869delCGGTTCACTGCAATGGCGCCATCT	POLE2	ENSG00000100479.14	transcript	ENST00000216367.10	protein_coding	2/18			chr14	TogoVar

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Search Results (Total: 10000 hits)