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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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
PLXNB2_chr22_50269979_50312646	50274835	T T	TCCCAGCC others(22): Show TCCCAGCCCCCTCCACCTCCCAGCACCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01106.hp1 HG01515.hp2 others(13): Show HG00673.hp1 HG01106.hp1 HG01515.hp2 HG01934.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02273.hp1 HG03239.hp1 HG03704.hp2 NA18950.hp1 NA18970.hp2 NA18990.hp2 NA19007.hp2 NA19081.hp1 NA20805.hp1	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0007 a0011 a0013 a0024	a0001c0002 a0003c0042 a0004c0008 others(9): Show a0001c0002 a0003c0042 a0004c0008 a0005c0067 a0005c0068 a0007c0029 a0007c0066 a0007c0076 a0011c0024 a0011c0062 a0013c0030 a0024c0055	a0001c0002t0001 a0003c0042t0001 a0004c0008t0005 others(9): Show a0001c0002t0001 a0003c0042t0001 a0004c0008t0005 a0005c0067t0001 a0005c0068t0005 a0007c0029t0001 a0007c0066t0001 a0007c0076t0001 a0011c0024t0001 a0011c0062t0001 a0013c0030t0001 a0024c0055t0001	a0001c0002t0001g0181 a0003c0042t0001g0019 a0004c0008t0005g0008 others(11): Show a0001c0002t0001g0181 a0003c0042t0001g0019 a0004c0008t0005g0008 a0005c0067t0001g0045 a0005c0068t0005g0257 a0007c0029t0001g0084 a0007c0029t0001g0088 a0007c0066t0001g0061 a0007c0076t0001g0258 a0011c0024t0001g0002 a0011c0062t0001g0083 a0013c0030t0001g0085 a0013c0030t0001g0219 a0024c0055t0001g0216	16	302	0.0530	29	c.86 others(38): Show c.868_*869insGGTGGTGCTGGGAGGTGGAGGGGGCTGGG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		143		chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50307779	G G	GGAGGGGA others(22): Show GGAGGGGAGGGGGAAGAGGGGGAGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0001 a0001c0052t0001	a0001c0052t0001g0076 a0001c0052t0001g0076	1	302	0.0033	29	c.-30 others(38): Show c.-301_-300insTCCCCCCTCCCCCTCTTCCCCCTCCCCTC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		134		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594338	T T	TGGGGGGG others(22): Show TGGGGGGGGTGGGGGGGTGGGGGGGCGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	330	0.0030	29	c.-45 others(40): Show c.-4534_-4533insCACCGCCCCCCCACCCCCCCACCCCCCCC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4499		chr22	TogoVar
PMM2_chr16_8792839_8854325	8851977	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	408	0.0025	29	c.41 others(40): Show c.4152_*4153insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding		2653		chr16	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0069 a0001c0003t0014g0069	1	408	0.0025	29	c.-95 others(38): Show c.-956_-955insATATATATATATATATATATTTTTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0001 a0001c0042t0001	a0001c0042t0001g0117 a0001c0042t0001g0117	1	408	0.0025	29	c.-95 others(38): Show c.-956_-955insATATATATATATATATATATATTTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0038 a0001c0003t0038	a0001c0003t0038g0278 a0001c0003t0038g0278	1	408	0.0025	29	c.-95 others(38): Show c.-956_-955insATATATATATATATATATATATATTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PNMA8A_chr19_46461503_46476563	46473260	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG02280.hp2 HG02647.hp1 others(1): Show HG01074.hp1 HG02280.hp2 HG02647.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0035 a0001c0002t0003 a0001c0002t0035	a0001c0002t0003g0002 a0001c0002t0035g0045 a0001c0002t0003g0002 a0001c0002t0035g0045	4	454	0.0088	29	c.-20 others(40): Show c.-2004_-2003insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding		1698		chr19	TogoVar
PODXL_chr7_131495271_131561628	131556674	G G	GCCCCCGC others(22): Show GCCCCCGCCCCCGCCCCCGCCCCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG03139.hp1 HG04199.hp1 HG02683.hp2 HG03139.hp1 HG04199.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0012 a0004c0004 a0005c0006 a0002c0012 a0004c0004 a0005c0006	a0002c0012t0027 a0004c0004t0003 a0005c0006t0002 a0002c0012t0027 a0004c0004t0003 a0005c0006t0002	a0002c0012t0027g0023 a0004c0004t0003g0391 a0005c0006t0002g0389 a0002c0012t0027g0023 a0004c0004t0003g0391 a0005c0006t0002g0389	3	440	0.0068	29	c.-31 others(38): Show c.-316_-315insAGGGGGAGGGGCGGGGGCGGGGGCGGGGG	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		47		chr7	TogoVar
POLB_chr8_42333494_42376808	42343345	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	314	0.0032	29	c.120 others(46): Show c.120-1607_120-1606insAAAAATATATATATATATATATATATAT A	POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
POLD3_chr11_74587582_74648076	74609372	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0213 a0001c0001t0010g0213	1	400	0.0025	29	c.220 others(46): Show c.220-2126_220-2125insATATATATATATATATATATATTTTTTT T	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
POLD3_chr11_74587582_74648076	74609373	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0039	1	400	0.0025	29	c.220 others(46): Show c.220-2126_220-2125insATATATATATATATATATATATATATAT A	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11			chr11	TogoVar
POLDIP2_chr17_28341633_28362527	28353520	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01975.hp2 HG02647.hp1 others(10): Show HG01257.hp2 HG01975.hp2 HG02647.hp1 HG03098.hp1 NA18522.hp2 NA18951.hp2 NA18953.hp1 NA18994.hp2 NA18998.hp2 NA19076.hp1 NA19084.hp1 NA19089.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0035 a0001c0001t0002g0007 a0001c0001t0002g0156 others(1): Show a0001c0001t0001g0035 a0001c0001t0002g0007 a0001c0001t0002g0156 a0001c0002t0001g0012	13	340	0.0382	29	c.438 others(44): Show c.438+174_438+175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10			chr17	TogoVar
POLR2E_chr19_1081574_1100375	1085529	C C	CATCTCTC others(22): Show CATCTCTCTCCCCCCTCTCCTGTCTCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0118	a0001c0001t0118g0311 a0001c0001t0118g0311	1	442	0.0023	29	c.32 others(40): Show c.3205_*3206insAGGAGAGACAGGAGAGGGGGGAGAGAGAT	POLR2E	ENSG00000099817.12	transcript	ENST00000615234.5	protein_coding		1044		chr19	TogoVar
POLR2M_chr15_57701714_57722557	57713820	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	404	0.0025	29	c.964 others(44): Show c.964-705_964-677dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	POLR2M	ENSG00000255529.9	transcript	ENST00000299638.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
POLRMT_chr19_612221_638537	633529	G G	GGCGCCGC others(22): Show GGCGCCGCCGCCGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02258.hp2 HG02818.hp1 NA18995.hp2 HG02258.hp2 HG02818.hp1 NA18995.hp2	a0002 a0002	a0002c0003 a0002c0013 a0002c0003 a0002c0013	a0002c0003t0008 a0002c0013t0008 a0002c0003t0008 a0002c0013t0008	a0002c0003t0008g0344 a0002c0013t0008g0342 a0002c0013t0008g0343 a0002c0003t0008g0344 a0002c0013t0008g0342 a0002c0013t0008g0343	3	422	0.0071	29	c.-18 others(36): Show c.-18_-17insGGCGGCGGCGGCGGCGGCGGCGGCGGCGC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	1/21	18		chr19	TogoVar
POMZP3_chr7_76604986_76632279	76615973	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0003 a0000c0002t0003	a0000c0002t0003g0189 a0000c0002t0003g0189	1	423	0.0024	29	c.345 others(46): Show c.345+2209_345+2210insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	POMZP3	ENSG00000146707.15	transcript	ENST00000310842.9	protein_coding	4/6			chr7	TogoVar
POMZP3_chr7_76604986_76632279	76620861	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18948.hp2 NA19056.hp2 others(1): Show HG00558.hp1 NA18948.hp2 NA19056.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0056 a0001c0001t0005g0075 a0001c0001t0005g0076 others(1): Show a0001c0001t0005g0056 a0001c0001t0005g0075 a0001c0001t0005g0076 a0001c0001t0005g0079	4	423	0.0095	29	c.228 others(46): Show c.228-2562_228-2561insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	POMZP3	ENSG00000146707.15	transcript	ENST00000310842.9	protein_coding	3/6			chr7	TogoVar
POR_chr7_75910155_75991855	75988623	C C	CGGGGTGG others(22): Show CGGGGTGGGGGGTGGAGGGGAAGGCCAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01192.hp2 HG01884.hp1 others(13): Show HG00639.hp1 HG01192.hp2 HG01884.hp1 HG01891.hp2 HG02258.hp2 HG02559.hp2 HG02723.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG06807.hp2 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0013 others(1): Show a0001c0003 a0001c0009 a0001c0013 a0001c0024	a0001c0003t0001 a0001c0009t0001 a0001c0013t0001 others(1): Show a0001c0003t0001 a0001c0009t0001 a0001c0013t0001 a0001c0024t0001	a0001c0003t0001g0014 a0001c0003t0001g0018 a0001c0003t0001g0019 others(13): Show a0001c0003t0001g0014 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0035 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0040 a0001c0009t0001g0003 a0001c0009t0001g0004 a0001c0009t0001g0005 a0001c0009t0001g0006 a0001c0013t0001g0012 a0001c0013t0001g0013 a0001c0024t0001g0234	16	278	0.0576	29	c.21 others(40): Show c.2142_*2143insGGGGTGGGGGGTGGAGGGGAAGGCCAGGT	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1769		chr7	TogoVar
POR_chr7_75910155_75991855	75989110	A A	AGGTTGAG others(22): Show AGGTTGAGGGGGGGAGGGGTGGAGGTTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0034 a0001c0005t0001g0034	1	278	0.0036	29	c.26 others(40): Show c.2629_*2630insGGTTGAGGGGGGGAGGGGTGGAGGTTGAG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2256		chr7	TogoVar
POT1_chr7_124817386_124934825	124817689	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	346	0.0029	29	c.62 others(40): Show c.6272_*6273insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	POT1	ENSG00000128513.16	transcript	ENST00000357628.8	protein_coding		4696		chr7	TogoVar
POTED_chr21_13604777_13650823	13646287	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 NA18945.hp1 NA18977.hp2 HG04115.hp2 NA18945.hp1 NA18977.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0037 a0001c0003t0003 a0001c0003t0037	a0001c0003t0003g0019 a0001c0003t0003g0209 a0001c0003t0037g0018 a0001c0003t0003g0019 a0001c0003t0003g0209 a0001c0003t0037g0018	3	416	0.0072	29	c.47 others(40): Show c.4721_*4722insAAAAAAAAAAAAAAAAAAAAAAAACACAC	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding		465		chr21	TogoVar
POTED_chr21_13604777_13650823	13646287	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01496.hp1 HG00642.hp2 HG01496.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0014 a0008c0009t0014	a0008c0009t0014g0021 a0008c0009t0014g0021	2	416	0.0048	29	c.47 others(40): Show c.4721_*4722insAAAAAAAAAAAAAAAAAAAAAACACACAC	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding		465		chr21	TogoVar
POU2AF1_chr11_111347255_111384275	111373795	T T	TCAGAGAA others(22): Show TCAGAGAAGGCCTCCCCATCCCAGGTAGGC	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	384	0.0026	29	c.16+ others(44): Show c.16+5338_16+5366dupGCCTACCTGGGATGGGGAGGCCTTCTCTG	POU2AF1	ENSG00000110777.12	transcript	ENST00000393067.8	protein_coding	1/4			chr11	TogoVar
PPA2_chr4_105364077_105479062	105450601	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	366	0.0027	29	c.268 others(46): Show c.268-1199_268-1198insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding	3/11			chr4	TogoVar
PPARA_chr22_46145526_46248755	46205554	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0136 a0001c0001t0015g0136	1	200	0.0050	29	c.208 others(46): Show c.208+6964_208+6965insATATATATATATATATATATATATATTT T	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPARD_chr6_35337558_35433178	35377871	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG02027.hp2 others(2): Show HG00558.hp2 HG00597.hp1 HG02027.hp2 HG03831.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0091 a0001c0001t0001g0110 a0001c0001t0001g0114 others(2): Show a0001c0001t0001g0091 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0025g0118	5	238	0.0210	29	c.-10 others(50): Show c.-102+30732_-102+30733insTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPARGC1B_chr5_149725310_149860022	149809241	A A	ATAGATAG others(22): Show ATAGATAGATAGATAGATCCATCTCTACCG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0064 a0001c0009t0064	a0001c0009t0064g0261 a0001c0009t0064g0261	1	320	0.0031	29	c.79- others(46): Show c.79-11175_79-11174insCCATCTCTACCGTAGATAGATAGATAGA T	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149809244	G G	GATAGATA others(22): Show GATAGATAGATAGATAGATCCATCTCTACC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	320	0.0031	29	c.79- others(46): Show c.79-11171_79-11170insCCATCTCTACCATAGATAGATAGATAGA T	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARG_chr3_12284070_12439344	12406532	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG04228.hp2 NA18951.hp2 HG01258.hp1 HG04228.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0002t0001g0027 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0002t0001g0027	3	294	0.0102	29	c.729 others(44): Show c.729+476_729+477insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PPARG	ENSG00000132170.24	transcript	ENST00000651735.1	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPFIA1_chr11_70265690_70389396	70277058	A A	ATTATAAT others(22): Show ATTATAATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0054 a0001c0004t0004g0054	1	282	0.0036	29	c.264 others(46): Show c.264+4623_264+4624insTATAATATATATATATATATATATATTT T	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA1_chr11_70265690_70389396	70277058	A A	ATTATAAT others(22): Show ATTATAATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp1 HG02809.hp1 others(4): Show HG02109.hp1 HG02630.hp1 HG02809.hp1 HG02922.hp2 HG03130.hp2 HG03209.hp2 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0004c0017 a0001c0004 a0004c0017	a0001c0004t0004 a0004c0017t0004 a0001c0004t0004 a0004c0017t0004	a0001c0004t0004g0056 a0001c0004t0004g0057 a0001c0004t0004g0058 others(4): Show a0001c0004t0004g0056 a0001c0004t0004g0057 a0001c0004t0004g0058 a0001c0004t0004g0060 a0001c0004t0004g0061 a0001c0004t0004g0062 a0004c0017t0004g0059	7	282	0.0248	29	c.264 others(46): Show c.264+4623_264+4624insTATAATATATATATATATATATATTTTT T	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA1_chr11_70265690_70389396	70279905	A A	ATTGTGTG others(22): Show ATTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0161 a0001c0005t0003g0161	1	282	0.0036	29	c.264 others(46): Show c.264+7470_264+7471insTGTGTGTGTGTGTGTGTGTGTGTGTGTG T	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIBP1_chr12_27519206_27700564	27644244	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	314	0.0032	29	c.271 others(46): Show c.271-1793_271-1792insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	PPFIBP1	ENSG00000110841.14	transcript	ENST00000228425.11	protein_coding	4/29		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPHLN1_chr12_42321167_42447181	42337777	T T	TTTTATTT others(22): Show TTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	376	0.0027	29	c.72+ others(44): Show c.72+1810_72+1811insTATTTTATTTTATTTTATTTTATTTATTT	PPHLN1	ENSG00000134283.18	transcript	ENST00000358314.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPHLN1_chr12_42321167_42447181	42360110	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00738.hp2 others(3): Show HG00544.hp2 HG00597.hp1 HG00738.hp2 HG02922.hp2 NA19079.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0085 a0001c0001t0002g0094 a0001c0001t0002g0208 others(3): Show a0001c0001t0002g0085 a0001c0001t0002g0094 a0001c0001t0002g0208 a0001c0001t0002g0214 a0001c0002t0002g0217 a0001c0002t0002g0220	6	376	0.0160	29	c.299 others(46): Show c.299+4901_299+4902insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	PPHLN1	ENSG00000134283.18	transcript	ENST00000358314.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPIAL4A_chr1_120884771_120895530	120885866	T T	TAATATAT others(22): Show TAATATATAATATATATTATATATATAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG03516.hp2 NA20129.hp2 HG02965.hp1 HG03516.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	3	280	0.0107	29	c.-39 others(40): Show c.-3955_-3954insAATATATAATATATATTATATATATAATA	PPIAL4A	ENSG00000263353.4	transcript	ENST00000577856.3	protein_coding		3904		chr1	TogoVar
PPM1B_chr2_44163875_44236472	44167255	A A	AAAAATAC others(22): Show AAAAATACATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02886.hp2 HG01106.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0159 a0001c0001t0001g0160	2	358	0.0056	29	c.-20 others(40): Show c.-2034_-2033insAAAATACATATATATATATATATATATAT	PPM1B	ENSG00000138032.21	transcript	ENST00000282412.9	protein_coding		1619		chr2	TogoVar
PPM1B_chr2_44163875_44236472	44167255	A A	AAATACAT others(22): Show AAATACATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	358	0.0028	29	c.-20 others(40): Show c.-2034_-2033insAATACATATATATATATATATATATATAT	PPM1B	ENSG00000138032.21	transcript	ENST00000282412.9	protein_coding		1619		chr2	TogoVar
PPM1H_chr12_62638994_62940150	62673715	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0024 a0001c0001t0009g0024	1	252	0.0040	29	c.124 others(48): Show c.1246-6387_1246-6386insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	8/9			chr12	TogoVar
PPM1H_chr12_62638994_62940150	62867564	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	252	0.0040	29	c.246 others(48): Show c.246-35314_246-35286dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	1/9			chr12	TogoVar
PPM1J_chr1_112704998_112720332	112706476	A A	ACCACACA others(22): Show ACCACACACACACACACACACACCCCACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	422	0.0024	29	c.36 others(40): Show c.3686_*3687insGTGTGGGGTGTGTGTGTGTGTGTGTGTGG	PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding		3521		chr1	TogoVar
PPM1L_chr3_160751231_161083902	160944813	T T	TATATATG others(22): Show TATATATGTTATATATAACATATATAACAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0180 a0001c0003t0013g0180	1	206	0.0049	29	c.400 others(48): Show c.400-16898_400-16897insACACATATATGTTATATATAACATAT ATA	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1L_chr3_160751231_161083902	161058118	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG02027.hp2 HG00733.hp2 HG01109.hp1 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0046 a0001c0001t0001g0075 a0001c0001t0001g0080	3	206	0.0146	29	c.575 others(46): Show c.575-7261_575-7260insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP1CB_chr2_28746830_28807940	28785065	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	1	366	0.0027	29	c.592 others(46): Show c.592+1115_592+1116insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	PPP1CB	ENSG00000213639.11	transcript	ENST00000395366.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R16B_chr20_38800697_38928024	38801531	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 NA18969.hp2 NA19091.hp2 HG02165.hp1 NA18969.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0002t0002g0024 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0002t0002g0024	3	244	0.0123	29	c.-43 others(40): Show c.-4363_-4362insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding		4165		chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38855974	A A	AAGAAGAA others(22): Show AAGAAGAAGGAGGAGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0025 a0001c0007t0025	a0001c0007t0025g0042 a0001c0007t0025g0042	1	244	0.0041	29	c.250 others(48): Show c.250+19799_250+19800insAGAAGAAGGAGGAGGAGGAGGAGGAG GAG	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	2/10			chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38855982	A A	AGAAGGAG others(22): Show AGAAGGAGGAGGAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp2 HG02922.hp2 others(5): Show HG02572.hp2 HG02809.hp2 HG02922.hp2 HG03130.hp2 HG03516.hp1 NA18981.hp2 NA18982.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 a0001c0001t0001 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0119 others(5): Show a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0119 a0001c0001t0001g0146 a0001c0002t0003g0111 a0001c0002t0004g0101 a0001c0002t0004g0102 a0001c0002t0004g0103	8	244	0.0328	29	c.250 others(48): Show c.250+19807_250+19808insGAAGGAGGAGGAGGAGGAGGAGGAGG AGG	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	2/10			chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38855982	A A	AGAGAGAG others(22): Show AGAGAGAGGAGGAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	244	0.0041	29	c.250 others(48): Show c.250+19807_250+19808insGAGAGAGGAGGAGGAGGAGGAGGAGG AGG	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	2/10			chr20	TogoVar
PPP1R9A_chr7_94902594_95301400	95103362	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0198 a0001c0002t0013g0198	1	290	0.0035	29	c.139 others(48): Show c.1396-7879_1396-7878insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr7	TogoVar

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