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
PCSK6_chr15_101298933_101494707	101311936	C C	CCCCTCAC others(42): Show CCCCTCACAGCTCACCCCATCATCACCCCTCACAGCCCACCCCATCGTCA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0065 a0001c0004t0001g0065	1	336	0.0030	49	c.269 others(68): Show c.2699+1439_2699+1440insTGACGATGGGGTGGGCTGTGAGGGGT GATGATGGGGTGAGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312088	C C	CCCCTCAC others(42): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01346.hp1 others(5): Show HG01069.hp1 HG01071.hp1 HG01346.hp1 HG02451.hp1 HG02698.hp1 HG03831.hp1 HG03834.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009	a0001c0001t0002 a0001c0001t0005 a0001c0003t0002 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0003t0002 a0001c0007t0002 a0001c0009t0002	a0001c0001t0002g0213 a0001c0001t0002g0257 a0001c0001t0005g0268 others(5): Show a0001c0001t0002g0213 a0001c0001t0002g0257 a0001c0001t0005g0268 a0001c0003t0002g0075 a0001c0003t0002g0086 a0001c0007t0002g0105 a0001c0007t0002g0107 a0001c0009t0002g0238	8	336	0.0238	49	c.269 others(68): Show c.2699+1287_2699+1288insTGACGATGGGGTGGGCTGTGAGGGGT GACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312088	C C	CCCCTCAC others(42): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCTCACCCCATCGTCA	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18945.hp1 NA18986.hp1 HG02622.hp1 NA18945.hp1 NA18986.hp1	a0001 a0017 a0001 a0017	a0001c0001 a0017c0046 a0001c0001 a0017c0046	a0001c0001t0002 a0017c0046t0001 a0001c0001t0002 a0017c0046t0001	a0001c0001t0002g0147 a0001c0001t0002g0162 a0017c0046t0001g0242 a0001c0001t0002g0147 a0001c0001t0002g0162 a0017c0046t0001g0242	3	336	0.0089	49	c.269 others(68): Show c.2699+1287_2699+1288insTGACGATGGGGTGAGCTGTGAGGGGT GACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCTP_chr17_55746051_55782374	55769593	T T	TGGGGGGG others(42): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	288	0.0035	49	c.260 others(66): Show c.260-1510_260-1509insGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGG	PCTP	ENSG00000141179.14	transcript	ENST00000268896.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
PCYOX1_chr2_70253137_70286185	70275327	T T	TGGGGGGG others(42): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0124 a0002c0004t0001g0124	1	424	0.0024	49	c.706 others(64): Show c.706+157_706+158insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGG	PCYOX1	ENSG00000116005.12	transcript	ENST00000433351.7	protein_coding	4/5			chr2	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAATAT others(42): Show AAAAATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	260	0.0039	49	c.117 others(66): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATATATATATATATTTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PC_chr11_66843420_66963383	66873521	T T	TATAATAT others(42): Show TATAATATTATAATATATATTATATATAATATTATATATTATATTATATA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01978.hp2 HG01071.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0100 a0001c0001t0001g0101	2	274	0.0073	49	c.1-1 others(62): Show c.1-1363_1-1362insTATATAATATAATATATAATATTATATATAAT ATATATTATAATATTAT	PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding	3/22			chr11	TogoVar
PDE11A_chr2_177618244_178077777	177946425	G G	GCCCGGCC others(42): Show GCCCGGCCAGCCACCCCGTCCAGGAGGGAGATGGGGGGTCAGCCCCCCCA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0042 a0002c0004t0042	a0002c0004t0042g0137 a0002c0004t0042g0137	1	170	0.0059	49	c.107 others(70): Show c.1072-41239_1072-41238insTGGGGGGGCTGACCCCCCATCTCC CTCCTGGACGGGGTGGCTGGCCGGG	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDE6B_chr4_620573_675782	651173	A A	AGCAGTGG others(42): Show AGCAGTGGGGCCGTCACAGGCAGGACAGGGCTGAGGCGCCGATGTCAACG	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19240.hp1 HG02630.hp2 NA19240.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0266 a0005c0011t0001g0267 a0005c0011t0001g0266 a0005c0011t0001g0267	2	308	0.0065	49	c.712 others(66): Show c.712-2659_712-2658insAGGACAGGGCTGAGGCGCCGATGTCAAC GGCAGTGGGGCCGTCACAGGC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE9A_chr21_42648621_42780509	42778563	G G	GCCCCCGC others(42): Show GCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG01109.hp2 others(40): Show HG00621.hp1 HG00639.hp1 HG01109.hp2 HG01167.hp1 HG01243.hp2 HG01891.hp2 HG02080.hp2 HG02145.hp1 HG02451.hp1 HG02486.hp1 HG02602.hp1 HG02683.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03579.hp2 HG03654.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp1 NA18612.hp2 NA18941.hp2 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18984.hp1 NA18985.hp1 NA18993.hp1 NA18995.hp2 NA19004.hp1 NA19007.hp1 NA19043.hp1 NA19064.hp2 NA19068.hp1 NA19085.hp1 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0005c0011t0001	a0001c0001t0001g0046 a0001c0001t0001g0058 a0001c0001t0001g0066 others(40): Show a0001c0001t0001g0046 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0087 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0194 a0001c0001t0001g0208 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0251 a0001c0001t0001g0262 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0300 a0001c0001t0001g0307 a0001c0001t0002g0120 a0001c0001t0002g0151 a0001c0001t0002g0291 a0001c0001t0003g0005 a0001c0001t0003g0008 a0001c0001t0003g0020 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0008g0297 a0001c0001t0009g0212 a0001c0002t0001g0256 a0001c0002t0002g0296 a0001c0003t0001g0043 a0001c0003t0001g0056 a0001c0003t0001g0149 a0001c0003t0001g0186 a0001c0003t0001g0226 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0266 a0001c0004t0001g0082 a0001c0004t0001g0141 a0005c0011t0001g0094	43	324	0.1327	49	c.32 others(60): Show c.3270_*3271insCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGA GGTGGGGGGGTCAGC	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding		3055		chr21	TogoVar
PDE9A_chr21_42648621_42780509	42778581	G G	GCCCCGTC others(42): Show GCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02895.hp2 HG02896.hp1 others(4): Show HG02145.hp2 HG02895.hp2 HG02896.hp1 HG03098.hp2 HG03453.hp2 HG03540.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0180 a0001c0002t0001g0165 a0001c0002t0001g0168 others(4): Show a0001c0001t0001g0180 a0001c0002t0001g0165 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0230 a0001c0002t0002g0292 a0001c0002t0002g0295	7	324	0.0216	49	c.32 others(60): Show c.3288_*3289insCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCA	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding		3073		chr21	TogoVar
PDGFA_chr7_492258_524846	511336	T T	TGGCAGGG others(42): Show TGGCAGGGGGGCAGAGGGGAACTTAGTCCAGGTGCGGCCAGTGGCTGGAG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0129 a0001c0001t0129	a0001c0001t0129g0203 a0001c0001t0129g0203	1	302	0.0033	49	c.266 others(64): Show c.266-341_266-340insCTCCAGCCACTGGCCGCACCTGGACTAAGT TCCCCTCTGCCCCCCTGCC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	3/5			chr7	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	334	0.0030	49	c.313 others(66): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDXK_chr21_43714129_43767299	43741245	C C	CGGGGGGG others(42): Show CGGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0352 a0001c0001t0022g0352	1	358	0.0028	49	c.143 others(64): Show c.143-416_143-415insGGCTCGCGGGGGGGCTCGCGGGGGGGCTCG CGGGGGGCTCGCGGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(42): Show CTTTATTTCTTTCTTTCTTTATTTATTTATTTATTTATTTATTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	408	0.0025	49	c.-26 others(60): Show c.-2692_-2691insATAAATAAATAAATAAATAAATAAATAAATAAAG AAAGAAAGAAATAAA	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		2519		chr1	TogoVar
PEX5_chr12_7184686_7216459	7197071	G G	GTAATTAT others(42): Show GTAATTATATATGTCATATAATGTAATAATATATGTCATATATAATGTAA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0262 a0001c0001t0002g0262	1	428	0.0023	49	c.449 others(66): Show c.449-1925_449-1924insTATAATGTAATAATATATGTCATATATA ATGTAATAATTATATATGTCA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PFKP_chr10_3062548_3141802	3084904	T T	TCCAGCAC others(42): Show TCCAGCACGGTCCCCCACTCCACTCTCCAGCACGGTCCCCCATTCCCTCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp1 HG02145.hp2 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0044 a0001c0005 a0001c0044	a0001c0005t0003 a0001c0044t0009 a0001c0005t0003 a0001c0044t0009	a0001c0005t0003g0186 a0001c0044t0009g0181 a0001c0005t0003g0186 a0001c0044t0009g0181	2	402	0.0050	49	c.186 others(66): Show c.186+2459_186+2460insCTCCACTCTCCAGCACGGTCCCCCATTC CCTCCCCAGCACGGTCCCCCA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085048	C C	CCCAGCAC others(42): Show CCCAGCACAGTCCCCCACTCCCTCCCCAGCACAGTCCGCCACTCCACTCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0018 a0001c0011t0018	a0001c0011t0018g0161 a0001c0011t0018g0161	1	402	0.0025	49	c.186 others(66): Show c.186+2594_186+2595insAGTCCCCCACTCCCTCCCCAGCACAGTC CGCCACTCCACTCTCCAGCAC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085208	T T	TCACCCCC others(42): Show TCACCCCCCTCCCCAGCACAGTCCCCCACCCCCTCCCCAGCACAGTCCCC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0281 a0001c0007t0005g0281	1	402	0.0025	49	c.186 others(66): Show c.186+2754_186+2755insCTCCCCAGCACAGTCCCCCACCCCCTCC CCAGCACAGTCCCCCACCCCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085757	C C	CAGCACAG others(42): Show CAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCTCCACCCCCTCCCT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0090 a0001c0004t0003g0090	1	402	0.0025	49	c.186 others(66): Show c.186+3306_186+3307insCCCACTCCACTCTCCAGCACAGTCCTCC ACCCCCTCCCTAGCACAGTCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425919	G G	GCCGCCCT others(42): Show GCCGCCCTCCGCCCTCCGCCCTCCGCCCTCCGCCCTCCGCCCTCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	438	0.0023	49	c.-38 others(58): Show c.-389_-388insCCGCCCTCCGCCCTCCGCCCTCCGCCCTCCGCCCTC CGCCCTCCGCCCT	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		271		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425926	G G	GCCGCCCG others(42): Show GCCGCCCGCCGCCCGCCGCCCGCCGCCCGCCGCCCGCCGCCCGCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	438	0.0023	49	c.-38 others(58): Show c.-382_-381insCCGCCCGCCGCCCGCCGCCCGCCGCCCGCCGCCCGC CGCCCGCCGCCCT	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		264		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425926	G G	GCCGCCCG others(42): Show GCCGCCCGCCGCCCGCCGCCCGCCGCCCGCCGCCCTCCGCCCTCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	438	0.0023	49	c.-38 others(58): Show c.-382_-381insCCGCCCGCCGCCCGCCGCCCGCCGCCCGCCGCCCTC CGCCCTCCGCCCT	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		264		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425926	G G	GCCGCCCG others(42): Show GCCGCCCGCCGCCCGCCGCCCGCCGCCCTCCGCCCTCCGCCCTCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA19063.hp1 NA18963.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0004 a0001c0005t0001g0003 a0001c0001t0001g0004 a0001c0005t0001g0003	2	438	0.0046	49	c.-38 others(58): Show c.-382_-381insCCGCCCGCCGCCCGCCGCCCGCCGCCCTCCGCCCTC CGCCCTCCGCCCT	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		264		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425926	G G	GCCGCCCG others(42): Show GCCGCCCGCCGCCCGCCGCCCTCCGCCCTCCGCCCTCCGCCCTCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	438	0.0023	49	c.-38 others(58): Show c.-382_-381insCCGCCCGCCGCCCGCCGCCCTCCGCCCTCCGCCCTC CGCCCTCCGCCCT	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		264		chr10	TogoVar
PGBD2_chr1_248901235_248924146	248911714	A A	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0219 a0001c0001t0010g0219	1	422	0.0024	49	c.-47 others(66): Show c.-47-2087_-47-2039dupCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGG	PGBD2	ENSG00000185220.12	transcript	ENST00000329291.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PGBD2_chr1_248901235_248924146	248911740	G G	GCGGGGGG others(42): Show GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0214 a0007c0011t0001g0214	1	422	0.0024	49	c.-47 others(66): Show c.-47-2039_-47-2038insCGGCTGGCCGGTCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGG	PGBD2	ENSG00000185220.12	transcript	ENST00000329291.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PGS1_chr17_78373649_78429659	78425756	C C	CTTTTTTT others(42): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	398	0.0025	49	c.17 others(60): Show c.1706_*1707insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	PGS1	ENSG00000087157.19	transcript	ENST00000262764.11	protein_coding		1098		chr17	TogoVar
PHACTR3_chr20_59599540_59852711	59635149	T T	TTCTTTCT others(42): Show TTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	250	0.0040	49	c.118 others(68): Show c.118+30018_118+30019insCTTTCTTTCTTTCTTTCTCTTTCTTT CTTTCTTTCCTTTCTTTCTTTCT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59635149	T T	TTCTTTCT others(42): Show TTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0209 a0001c0001t0008g0209	1	250	0.0040	49	c.118 others(68): Show c.118+30018_118+30019insCTTTCTTTCTTTCTTTTTCTTTCTTT CTTTCTTTCCTTTCTTTCTTTCT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59635149	T T	TTCTTTCT others(42): Show TTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	250	0.0040	49	c.118 others(68): Show c.118+30018_118+30019insCTTTCTTTTTCTTTCTTTCTTTCTTT CTTTCCTTTCTTTCTTTCTTTCT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHF11_chr13_49490953_49533976	49504591	T T	TGGGGGGT others(42): Show TGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp2 others(124): Show HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG01074.hp1 HG01081.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01433.hp2 HG01884.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02602.hp1 HG02622.hp2 HG02698.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03688.hp1 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18952.hp2 NA18953.hp2 NA18959.hp2 NA18964.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18987.hp2 NA18989.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19055.hp1 NA19057.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19078.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0004c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0024 others(102): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0071 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0199 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0288 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0039 a0001c0001t0002g0200 a0001c0001t0002g0272 a0001c0001t0002g0280 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0306 a0001c0001t0002g0310 a0001c0001t0002g0316 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0327 a0001c0001t0003g0004 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0250 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0286 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0004g0239 a0004c0008t0001g0305	127	414	0.3068	49	c.95- others(64): Show c.95-2001_95-2000insGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGG	PHF11	ENSG00000136147.18	transcript	ENST00000378319.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
PHF11_chr13_49490953_49533976	49504627	C C	CCGGGAGG others(42): Show CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA20905.hp1 HG01192.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0325 a0001c0001t0001g0301 a0001c0001t0001g0325	2	414	0.0048	49	c.95- others(64): Show c.95-2001_95-2000insGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTTCGGGAGG	PHF11	ENSG00000136147.18	transcript	ENST00000378319.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
PHKA1_chrX_72573814_72719306	72681993	T T	TCTGCCCG others(42): Show TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03540.hp2 HG01099.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0017 a0001c0001t0001g0019	2	237	0.0084	49	c.537 others(66): Show c.537+2456_537+2504dupGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHLDB2_chr3_111854265_111981517	111972575	A A	ATGTTTTC others(42): Show ATGTTTTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCAC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	286	0.0035	49	c.353 others(68): Show c.3536-1156_3536-1155insGTTTTCTATTCTATTCTATTCTATTC TATTCTATTCTATTCTATTCACT	PHLDB2	ENSG00000144824.21	transcript	ENST00000431670.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATATTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0119	a0001c0001t0119g0292 a0001c0001t0119g0292	1	322	0.0031	49	c.50 others(60): Show c.5049_*5050insAAAAAAATATATATATATATATATATATATATAT ATATATATATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS4_chr19_4002736_4044386	4011792	T T	TGGGGTGT others(42): Show TGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG03195.hp1 HG01891.hp1 HG02258.hp2 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0201 a0001c0002t0001g0017 a0001c0002t0001g0201	3	334	0.0090	49	c.28- others(64): Show c.28-1114_28-1113insTTGGTGTGGAGCTGTGGGGTGTGGAGGTGT GGGGGGTGTGGAGGTGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4011809	T T	TGGGGTGT others(42): Show TGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0176 a0001c0001t0019g0176	1	334	0.0030	49	c.28- others(64): Show c.28-1097_28-1096insTTGGTGTGGAGCTGTGGGGTGTGGAGGTGT GGGGGGTGTGGAGGTGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PID1_chr2_229018973_229276287	229184803	G G	GTATATAT others(42): Show GTATATATATCCCGTATATATATATATATCCCGTATATATATATCCCGTA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	256	0.0039	49	c.31- others(66): Show c.31-28840_31-28839insTACGGGATATATATATACGGGATATATA TATATATACGGGATATATATA	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2			chr2	TogoVar
PIEZO1_chr16_88710338_88790220	88789331	A A	ATAATTTC others(42): Show ATAATTTCAAGAGGCAGCAACCCCAGAGTCTGTTAATGGAGTGTAGAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0006 a0003c0017t0006	a0003c0017t0006g0016 a0003c0017t0006g0016	1	282	0.0036	49	c.-43 others(60): Show c.-4368_-4367insGTTTCTACACTCCATTAACAGACTCTGGGGTTGC TGCCTCTTGAAATTA	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		4112		chr16	TogoVar
PIEZO2_chr18_10665247_11154569	10782321	T T	TTATAATT others(42): Show TTATAATTATAATATTTCCAATATATATATATAATATATATAATTATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0007 a0001c0024t0007	a0001c0024t0007g0002 a0001c0024t0007g0002	1	158	0.0063	49	c.249 others(68): Show c.2493-1956_2493-1955insTATATAATTATATATATTATATATAT ATATTGGAAATATTATAATTATA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	17/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886487	C C	CATATATA others(42): Show CATATATATATATAATGTGTGTATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01175.hp2 HG00639.hp2 HG01175.hp2	a0003 a0030 a0003 a0030	a0003c0011 a0030c0091 a0003c0011 a0030c0091	a0003c0011t0001 a0030c0091t0001 a0003c0011t0001 a0030c0091t0001	a0003c0011t0001g0054 a0030c0091t0001g0019 a0003c0011t0001g0054 a0030c0091t0001g0019	2	158	0.0127	49	c.330 others(68): Show c.330-15073_330-15072insATATATATATATATATATATATATAT ATACACACATTATATATATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIGN_chr18_62036164_62192056	62185665	C C	CCTGATAG others(42): Show CCTGATAGCACTAATTACTACTGCCTATGTACTTCGGCATTTACTGGAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(184): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19067.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0005 others(14): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0015 a0001c0016 a0001c0017 a0001c0019 a0001c0020 a0001c0021 a0002c0002 a0003c0022 a0004c0006 a0004c0007 a0005c0012 a0006c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(86): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0030 a0001c0001t0034 a0001c0001t0039 a0001c0001t0040 a0001c0001t0056 a0001c0001t0060 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0071 a0001c0001t0076 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0003t0002 a0001c0003t0129 a0001c0005t0010 a0001c0005t0022 a0001c0005t0029 a0001c0005t0055 a0001c0005t0114 a0001c0005t0115 a0001c0005t0116 a0001c0005t0117 a0001c0005t0118 a0001c0005t0119 a0001c0008t0032 a0001c0008t0033 a0001c0008t0058 a0001c0008t0139 a0001c0008t0140 a0001c0008t0141 a0001c0008t0142 a0001c0008t0143 a0001c0009t0052 a0001c0009t0053 a0001c0009t0054 a0001c0009t0107 a0001c0015t0144 a0001c0016t0003 a0001c0017t0013 a0001c0019t0001 a0001c0020t0123 a0001c0021t0063 a0002c0002t0027 a0003c0022t0103 a0004c0006t0025 a0004c0006t0031 a0004c0006t0057 a0004c0006t0066 a0004c0006t0067 a0004c0006t0093 a0004c0006t0134 a0004c0006t0135 a0004c0006t0136 a0004c0006t0137 a0004c0006t0138 a0004c0007t0059 a0004c0007t0060 a0004c0007t0061 a0004c0007t0065 a0004c0007t0120 a0004c0007t0121 a0004c0007t0122 a0004c0007t0145 a0004c0007t0146 a0004c0007t0147 a0004c0007t0148 a0005c0012t0033 a0006c0018t0125	a0001c0001t0001g0055 a0001c0001t0001g0179 a0001c0001t0001g0192 others(181): Show a0001c0001t0001g0055 a0001c0001t0001g0179 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0002g0002 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0200 a0001c0001t0002g0228 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0274 a0001c0001t0002g0283 a0001c0001t0003g0180 a0001c0001t0003g0190 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0212 a0001c0001t0003g0221 a0001c0001t0003g0229 a0001c0001t0003g0238 a0001c0001t0003g0265 a0001c0001t0003g0270 a0001c0001t0003g0277 a0001c0001t0005g0187 a0001c0001t0005g0194 a0001c0001t0005g0214 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0249 a0001c0001t0005g0267 a0001c0001t0005g0273 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0012g0222 a0001c0001t0012g0223 a0001c0001t0012g0248 a0001c0001t0012g0266 a0001c0001t0012g0271 a0001c0001t0012g0276 a0001c0001t0013g0185 a0001c0001t0013g0189 a0001c0001t0013g0220 a0001c0001t0013g0253 a0001c0001t0013g0263 a0001c0001t0017g0210 a0001c0001t0017g0213 a0001c0001t0017g0219 a0001c0001t0017g0252 a0001c0001t0017g0268 a0001c0001t0018g0054 a0001c0001t0018g0232 a0001c0001t0018g0264 a0001c0001t0018g0272 a0001c0001t0018g0275 a0001c0001t0023g0188 a0001c0001t0023g0255 a0001c0001t0023g0257 a0001c0001t0023g0284 a0001c0001t0024g0327 a0001c0001t0024g0328 a0001c0001t0024g0336 a0001c0001t0024g0337 a0001c0001t0030g0183 a0001c0001t0030g0269 a0001c0001t0030g0281 a0001c0001t0034g0325 a0001c0001t0034g0331 a0001c0001t0034g0335 a0001c0001t0039g0259 a0001c0001t0039g0262 a0001c0001t0040g0250 a0001c0001t0040g0261 a0001c0001t0056g0186 a0001c0001t0060g0338 a0001c0001t0062g0334 a0001c0001t0062g0339 a0001c0001t0063g0330 a0001c0001t0064g0326 a0001c0001t0064g0329 a0001c0001t0071g0015 a0001c0001t0076g0260 a0001c0001t0126g0224 a0001c0001t0127g0216 a0001c0001t0128g0217 a0001c0001t0130g0177 a0001c0001t0131g0208 a0001c0001t0132g0211 a0001c0001t0133g0280 a0001c0001t0149g0314 a0001c0001t0150g0324 a0001c0001t0151g0333 a0001c0001t0152g0323 a0001c0001t0153g0320 a0001c0003t0002g0226 a0001c0003t0129g0227 a0001c0005t0010g0001 a0001c0005t0010g0117 a0001c0005t0010g0121 a0001c0005t0010g0167 a0001c0005t0010g0170 a0001c0005t0010g0172 a0001c0005t0022g0119 a0001c0005t0022g0164 a0001c0005t0022g0169 a0001c0005t0022g0174 a0001c0005t0029g0053 a0001c0005t0029g0118 a0001c0005t0029g0171 a0001c0005t0055g0162 a0001c0005t0055g0163 a0001c0005t0114g0175 a0001c0005t0115g0173 a0001c0005t0116g0168 a0001c0005t0117g0166 a0001c0005t0118g0165 a0001c0005t0119g0120 a0001c0008t0032g0291 a0001c0008t0032g0293 a0001c0008t0032g0295 a0001c0008t0033g0307 a0001c0008t0033g0309 a0001c0008t0058g0296 a0001c0008t0058g0308 a0001c0008t0139g0302 a0001c0008t0140g0290 a0001c0008t0141g0306 a0001c0008t0142g0294 a0001c0008t0143g0305 a0001c0009t0052g0201 a0001c0009t0052g0286 a0001c0009t0053g0202 a0001c0009t0053g0287 a0001c0009t0054g0285 a0001c0009t0054g0288 a0001c0009t0107g0197 a0001c0015t0144g0322 a0001c0016t0003g0209 a0001c0017t0013g0199 a0001c0019t0001g0191 a0001c0020t0123g0184 a0001c0021t0063g0332 a0002c0002t0027g0215 a0003c0022t0103g0282 a0004c0006t0025g0005 a0004c0006t0025g0006 a0004c0006t0025g0008 a0004c0006t0031g0003 a0004c0006t0031g0303 a0004c0006t0057g0299 a0004c0006t0057g0304 a0004c0006t0066g0009 a0004c0006t0067g0007 a0004c0006t0093g0218 a0004c0006t0134g0310 a0004c0006t0135g0301 a0004c0006t0136g0298 a0004c0006t0137g0300 a0004c0006t0138g0297 a0004c0007t0059g0318 a0004c0007t0059g0319 a0004c0007t0060g0315 a0004c0007t0061g0311 a0004c0007t0061g0321 a0004c0007t0065g0004 a0004c0007t0120g0207 a0004c0007t0121g0203 a0004c0007t0122g0204 a0004c0007t0145g0312 a0004c0007t0146g0317 a0004c0007t0147g0313 a0004c0007t0148g0316 a0005c0012t0033g0292 a0006c0018t0125g0181	187	342	0.5468	49	c.-23 others(68): Show c.-236+1178_-236+1179insCTTCCAGTAAATGCCGAAGTACATAG GCAGTAGTAATTAGTGCTATCAG	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	1/30			chr18	TogoVar
PIGU_chr20_34555542_34682092	34659192	A A	AGGAGGGA others(42): Show AGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	320	0.0031	49	c.131 others(66): Show c.131-1997_131-1949dupCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCC	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	1/11			chr20	TogoVar
PIK3R5_chr17_8873916_8970707	8885102	T T	TGTGATCA others(42): Show TGTGATCACACCTTCCCAGGGTCCTGCCTCTCCAGGGCCCCATCTCCGCC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	298	0.0034	49	c.212 others(66): Show c.2129-320_2129-319insGGCGGAGATGGGGCCCTGGAGAGGCAGG ACCCTGGGAAGGTGTGATCAC	PIK3R5	ENSG00000141506.15	transcript	ENST00000447110.6	protein_coding	14/18			chr17	TogoVar
PIN4_chrX_72176757_72203340	72178846	A A	AGTCCGGG others(42): Show AGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	307	0.0033	49	c.-29 others(60): Show c.-2940_-2939insGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC CCGGCCAGCCGCCCC	PIN4	ENSG00000102309.15	transcript	ENST00000373669.8	protein_coding		2910		chrX	TogoVar
PIP5K1C_chr19_3625183_3705468	3649731	C C	CCCAGCGC others(42): Show CCCAGCGCGGGAGTTAACTGTCACCCGGCACCGTGCCCACACGTCCCCTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG01168.hp1 others(13): Show HG00639.hp1 HG00738.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01346.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG02735.hp1 HG03492.hp2 HG04228.hp1 HG06807.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 others(13): Show a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0134 a0001c0001t0001g0192 a0001c0001t0012g0013 a0001c0001t0012g0029 a0001c0001t0012g0077 a0001c0001t0012g0128	16	332	0.0482	49	c.112 others(68): Show c.1128-1072_1128-1024dupCAGGGGACGTGTGGGCACGGTGCCGG GTGACAGTTAACTCCCGCGCTGG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PKNOX1_chr21_42969562_43038931	42987404	A A	AAAAAAAA others(42): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0291 a0001c0001t0032g0291	1	362	0.0028	49	c.-57 others(68): Show c.-57+12741_-57+12742insAAAAAAAAATATATATATATATATAT ATATATATATATATATATATATA	PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PLAAT3_chr11_63569462_63619433	63615017	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATGTATATATGTATATATATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp2 NA18970.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0314 a0001c0001t0001g0012 a0001c0001t0001g0314	2	352	0.0057	49	c.-68 others(58): Show c.-688_-687insACATATATATACATATATACATATATATATATATAT ATATATATATATA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		585		chr11	TogoVar
PLCB1_chr20_8127266_8889900	8278258	A A	ATATATAA others(42): Show ATATATAAATATATTATATAAATATATATTTATATAATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp2 HG03130.hp1 others(2): Show HG02258.hp1 HG02615.hp2 HG03130.hp1 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0011 a0001c0002 a0001c0005 a0001c0011	a0001c0002t0003 a0001c0002t0004 a0001c0005t0011 others(1): Show a0001c0002t0003 a0001c0002t0004 a0001c0005t0011 a0001c0011t0006	a0001c0002t0003g0023 a0001c0002t0003g0079 a0001c0002t0004g0026 others(2): Show a0001c0002t0003g0023 a0001c0002t0003g0079 a0001c0002t0004g0026 a0001c0005t0011g0068 a0001c0011t0006g0066	5	106	0.0472	49	c.178 others(68): Show c.178-93080_178-93079insTATATTATATAAATATATTATATAAA TATATATTTATATAATATATAAA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr20	TogoVar

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