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
PDE6B_chr4_620573_675782	651629	AGAGCCGT others(29): Show AGAGCCGTCTCCATTCAGCAGGCGCCAGGGCTATGGG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02818.hp1 HG01978.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0221 a0001c0001t0011g0043 a0001c0001t0004g0221 a0001c0001t0011g0043	2	308	0.0065	-36	c.712 others(53): Show c.712-2200_712-2165delGCCAGGGCTATGGGGAGCCGTCTCCATT CAGCAGGC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	651665	GGAGCCGT others(29): Show GGAGCCGTCTCCATTCAGCAGGCTCTGGAGCTATGAA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03486.hp1 HG00733.hp2 HG03486.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0026 a0001c0001 a0012c0026	a0001c0001t0002 a0012c0026t0002 a0001c0001t0002 a0012c0026t0002	a0001c0001t0002g0153 a0012c0026t0002g0170 a0001c0001t0002g0153 a0012c0026t0002g0170	2	308	0.0065	-36	c.712 others(53): Show c.712-2164_712-2129delTCTGGAGCTATGAAGAGCCGTCTCCATT CAGCAGGC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDGFC_chr4_156755454_156976799	156824313	TATATATA others(29): Show TATATATATATATATACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0004 a0001c0001t0020g0004	1	208	0.0048	-36	c.315 others(55): Show c.315-13332_315-13297delGTGTGTGTGTGTGTGTGTGTGTATAT ATATATATAT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDIA2_chr16_278164_292215	281311	GGGGGGCC others(29): Show GGGGGGCCGCCGAGGGCCCTAGAGGGTCAGTAGGTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03225.hp2 HG03486.hp2 HG03130.hp1 HG03225.hp2 HG03486.hp2	a0001 a0017 a0001 a0017	a0001c0026 a0001c0034 a0017c0038 a0001c0026 a0001c0034 a0017c0038	a0001c0026t0001 a0001c0034t0001 a0017c0038t0002 a0001c0026t0001 a0001c0034t0001 a0017c0038t0002	a0001c0026t0001g0069 a0001c0034t0001g0068 a0017c0038t0002g0057 a0001c0026t0001g0069 a0001c0034t0001g0068 a0017c0038t0002g0057	3	436	0.0069	-36	c.-18 others(47): Show c.-1858_-1823delGGGGGCCGCCGAGGGCCCTAGAGGGTCAGTAGGT TT	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding		1852		chr16	TogoVar
PDIA3_chr15_43741438_43778278	43778156	GGTTTCAC others(29): Show GGTTTCACCGTGTTAGCCAGGATGGTTTTGATCTCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	358	0.0028	-36	c.69 others(47): Show c.6939_*6974delGTTTCACCGTGTTAGCCAGGATGGTTTTGATCTC CT	PDIA3	ENSG00000167004.14	transcript	ENST00000300289.10	protein_coding		4879		chr15	TogoVar
PDIA6_chr2_10778391_10817785	10815085	GGGAAATG others(29): Show GGGAAATGCACAGGCTTCTGGAAATGCACAGGCTTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG01099.hp1 others(49): Show HG00280.hp1 HG00642.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01261.hp1 HG01433.hp2 HG01884.hp1 HG01943.hp1 HG02055.hp1 HG02145.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG04228.hp1 NA18906.hp2 NA19070.hp1 NA20129.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0001c0012 a0002c0002	a0001c0001t0004 a0001c0001t0014 a0001c0004t0001 others(4): Show a0001c0001t0004 a0001c0001t0014 a0001c0004t0001 a0001c0004t0002 a0001c0005t0003 a0001c0012t0002 a0002c0002t0001	a0001c0001t0004g0002 a0001c0001t0004g0034 a0001c0001t0004g0035 others(41): Show a0001c0001t0004g0002 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0014g0290 a0001c0004t0001g0279 a0001c0004t0002g0023 a0001c0004t0002g0268 a0001c0004t0002g0269 a0001c0004t0002g0270 a0001c0004t0002g0275 a0001c0004t0002g0282 a0001c0004t0002g0283 a0001c0004t0002g0284 a0001c0004t0002g0285 a0001c0004t0002g0286 a0001c0004t0002g0287 a0001c0005t0003g0011 a0001c0005t0003g0018 a0001c0005t0003g0138 a0001c0005t0003g0139 a0001c0005t0003g0140 a0001c0005t0003g0141 a0001c0005t0003g0142 a0001c0005t0003g0143 a0001c0005t0003g0144 a0001c0005t0003g0145 a0001c0005t0003g0146 a0001c0005t0003g0147 a0001c0005t0003g0148 a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0151 a0001c0012t0002g0274 a0002c0002t0001g0184	52	342	0.1521	-36	c.-24 others(47): Show c.-2425_-2390delAGAAGCCTGTGCATTTCCAGAAGCCTGTGCATTT CC	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding		2301		chr2	TogoVar
PDILT_chr16_20354175_20409737	20367024	CTTCTTTC others(29): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01346.hp1 HG01981.hp1 others(2): Show HG01109.hp2 HG01346.hp1 HG01981.hp1 HG02004.hp1 HG02273.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0003 a0003c0002 a0004c0006 a0002c0003 a0003c0002 a0004c0006	a0002c0003t0001 a0003c0002t0001 a0004c0006t0001 a0002c0003t0001 a0003c0002t0001 a0004c0006t0001	a0002c0003t0001g0147 a0003c0002t0001g0069 a0003c0002t0001g0163 others(2): Show a0002c0003t0001g0147 a0003c0002t0001g0069 a0003c0002t0001g0163 a0003c0002t0001g0251 a0004c0006t0001g0083	5	406	0.0123	-36	c.111 others(55): Show c.1117-1520_1117-1485delAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAA	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	8/11			chr16	TogoVar
PDK1_chr2_172551090_172613669	172602904	TGCCTCAT others(29): Show TGCCTCATTTGCTGTGGTGCACAGCTGAACTTGATTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0024 a0001c0001t0109g0024	1	342	0.0029	-36	c.69 others(47): Show c.6936_*6971delGCCTCATTTGCTGTGGTGCACAGCTGAACTTGAT TG	PDK1	ENSG00000152256.14	transcript	ENST00000282077.8	protein_coding	11/11	6936		chr2	TogoVar
PDP2_chr16_66875515_66896101	66893498	GATATATA others(29): Show GATATATATGTGTGTATATATATATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG02886.hp1 NA18951.hp2 others(1): Show HG01993.hp1 HG02886.hp1 NA18951.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0042 a0001c0001t0044 a0001c0001t0008 a0001c0001t0042 a0001c0001t0044	a0001c0001t0008g0002 a0001c0001t0042g0002 a0001c0001t0044g0002 a0001c0001t0008g0002 a0001c0001t0042g0002 a0001c0001t0044g0002	4	356	0.0112	-36	c.76 others(47): Show c.7625_*7660delATATATATGTGTGTATATATATATATATATATAT AT	PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding		2398		chr16	TogoVar
PDS5B_chr13_32581452_32783019	32660876	AGCTTAGG others(29): Show AGCTTAGGGTGGAAATTTCTCAAGGCAATTACTGTTT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	334	0.0030	-36	c.624 others(53): Show c.624+1597_624+1632delGCTTAGGGTGGAAATTTCTCAAGGCAAT TACTGTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	6/34			chr13	TogoVar
PDZD2_chr5_31634131_32115932	31850002	ATATATAC others(29): Show ATATATACACACACACGTATATACTCATATATACACG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03209.hp2 HG02258.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0041 a0001c0001t0022 a0001c0001t0041	a0001c0001t0022g0170 a0001c0001t0041g0210 a0001c0001t0022g0170 a0001c0001t0041g0210	2	216	0.0093	-36	c.476 others(55): Show c.476+50285_476+50320delCACACACACGTATATACTCATATATA CACGTATATA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	32039717	CGTCTGGG others(29): Show CGTCTGGGAAGTGAGGAGTGCCTCTGCCCGGCCGCCA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0023 a0001c0017t0023	a0001c0017t0023g0071 a0001c0017t0023g0071	1	216	0.0046	-36	c.151 others(55): Show c.1519+2376_1519+2411delGTCTGGGAAGTGAGGAGTGCCTCTGC CCGGCCGCCA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	7/24			chr5	TogoVar
PDZD8_chr10_117272274_117380440	117357766	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03486.hp2 NA21309.hp2 HG02647.hp1 HG03486.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0191 a0001c0001t0001g0219 a0001c0001t0003g0163 a0001c0001t0001g0191 a0001c0001t0001g0219 a0001c0001t0003g0163	3	322	0.0093	-36	c.872 others(55): Show c.872+16554_872+16589delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	1/4			chr10	TogoVar
PEAK1_chr15_77103158_77425104	77250145	ATATATAT others(29): Show ATATATATATACATATATATACATATATATGTATATG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18952.hp1 NA19063.hp1 HG00673.hp2 NA18952.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0008 a0001c0001t0005g0048 a0001c0001t0005g0079 a0001c0001t0001g0008 a0001c0001t0005g0048 a0001c0001t0005g0079	3	326	0.0092	-36	c.-11 others(55): Show c.-115+2186_-115+2221delCATATACATATATATGTATATATATG TATATATATA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	6/9			chr15	TogoVar
PELI1_chr2_64087652_64149420	64147564	TCCAGATG others(29): Show TCCAGATGAAAGATGGGTCAGAGGGGTGACAGAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	304	0.0033	-36	c.-35 others(47): Show c.-3589_-3554delTTTTTCTGTCACCCCTCTGACCCATCTTTCATCT GG	PELI1	ENSG00000197329.12	transcript	ENST00000358912.5	protein_coding		3145		chr2	TogoVar
PEMT_chr17_17500563_17596708	17586256	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	348	0.0029	-36	c.96+ others(51): Show c.96+5239_96+5274delTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	PEMT	ENSG00000133027.18	transcript	ENST00000255389.10	protein_coding	1/6			chr17	TogoVar
PEX14_chr1_10469950_10635758	10577550	ATATATAT others(29): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0181 a0001c0002t0001g0181	1	258	0.0039	-36	c.170 others(55): Show c.170-21686_170-21651delATATATATATATTTTTTTTTTTTTTT TTTTTTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10577552	ATATATAT others(29): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 NA18942.hp1 NA18944.hp1 others(1): Show HG03490.hp2 NA18942.hp1 NA18944.hp1 NA18995.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0018 a0001c0002 a0005c0018	a0001c0002t0001 a0001c0002t0005 a0005c0018t0001 a0001c0002t0001 a0001c0002t0005 a0005c0018t0001	a0001c0002t0001g0193 a0001c0002t0001g0224 a0001c0002t0005g0194 others(1): Show a0001c0002t0001g0193 a0001c0002t0001g0224 a0001c0002t0005g0194 a0005c0018t0001g0171	4	258	0.0155	-36	c.170 others(55): Show c.170-21684_170-21649delATATATATATTTTTTTTTTTTTTTTT TTTTTTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX1_chr7_92482025_92533520	92515067	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02886.hp1 HG02970.hp1 others(4): Show HG01243.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0004 a0002c0018 others(1): Show a0001c0001 a0002c0004 a0002c0018 a0004c0007	a0001c0001t0001 a0002c0004t0001 a0002c0018t0001 others(1): Show a0001c0001t0001 a0002c0004t0001 a0002c0018t0001 a0004c0007t0001	a0001c0001t0001g0057 a0002c0004t0001g0046 a0002c0004t0001g0207 others(4): Show a0001c0001t0001g0057 a0002c0004t0001g0046 a0002c0004t0001g0207 a0002c0004t0001g0229 a0002c0018t0001g0208 a0004c0007t0001g0044 a0004c0007t0001g0045	7	310	0.0226	-36	c.124 others(55): Show c.1240-1136_1240-1101delTATATATATATATATATATATATATA TATATATATA	PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23			chr7	TogoVar
PF4V1_chr4_73848296_73859483	73855073	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	448	0.0022	-36	c.95 others(45): Show c.952_*987delTATATATATATATATATATATATATATATATATTTT	PF4V1	ENSG00000109272.4	transcript	ENST00000226524.4	protein_coding		591		chr4	TogoVar
PF4V1_chr4_73848296_73859483	73855075	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00741.hp2 others(27): Show HG00099.hp1 HG00639.hp2 HG00741.hp2 HG01261.hp2 HG01884.hp1 HG02040.hp2 HG02258.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03490.hp1 HG03831.hp1 HG03942.hp1 NA18747.hp1 NA18950.hp1 NA18955.hp2 NA18957.hp2 NA18964.hp1 NA18971.hp1 NA18984.hp2 NA18995.hp2 NA18999.hp1 NA19002.hp2 NA19011.hp1 NA19057.hp2 NA19062.hp2 NA19063.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0002 a0001c0002t0001g0006	30	448	0.0670	-36	c.95 others(45): Show c.954_*989delTATATATATATATATATATATATATATATATTTTTT	PF4V1	ENSG00000109272.4	transcript	ENST00000226524.4	protein_coding		593		chr4	TogoVar
PGA3_chr11_61198515_61218098	61201986	AATCCTTT others(29): Show AATCCTTTAGCCAGACACAAAAGTTCTCCAAGTCCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01496.hp2 HG02280.hp2 others(6): Show HG00597.hp2 HG01496.hp2 HG02280.hp2 NA18995.hp1 NA19076.hp2 NA19079.hp2 NA19087.hp2 NA20129.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0016 a0002c0002 a0002c0016	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0016t0002	a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0082 others(5): Show a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0006g0085 a0002c0016t0002g0028	9	311	0.0289	-36	c.-15 others(47): Show c.-1578_-1543delATCCTTTAGCCAGACACAAAAGTTCTCCAAGTCC CC	PGA3	ENSG00000229859.10	transcript	ENST00000325558.11	protein_coding		1528		chr11	TogoVar
PGAP6_chr16_365788_386978	373794	CCACCATG others(29): Show CCACCATGCTCGGCCAAGGCATTACAGGTGTGAGCCA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0042 a0001c0004t0002g0042	1	376	0.0027	-36	c.190 others(53): Show c.1902+175_1902+210delTGGCTCACACCTGTAATGCCTTGGCCGA GCATGGTG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	11/12			chr16	TogoVar
PGM2_chr4_37821686_37867937	37860097	CGTAATGT others(29): Show CGTAATGTTCACTCATGTCATGATTAAGAAATAAATT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0115 a0001c0002t0010g0115	1	446	0.0022	-36	c.173 others(55): Show c.1737-1412_1737-1377delGTAATGTTCACTCATGTCATGATTAA GAAATAAATT	PGM2	ENSG00000169299.14	transcript	ENST00000381967.9	protein_coding	13/13			chr4	TogoVar
PGM5_chr9_68351611_68536061	68376765	ATTTCTTT others(29): Show ATTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01261.hp2 HG01433.hp2 others(15): Show HG00408.hp1 HG01261.hp2 HG01433.hp2 HG02027.hp1 HG02080.hp1 HG02148.hp1 HG03490.hp1 HG03492.hp2 HG04199.hp1 NA18612.hp1 NA18961.hp1 NA18980.hp2 NA18994.hp2 NA19005.hp2 NA19009.hp1 NA19067.hp1 NA19081.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 others(2): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0020 a0001c0001t0021	a0001c0001t0009g0211 a0001c0001t0010g0214 a0001c0001t0010g0216 others(15): Show a0001c0001t0009g0211 a0001c0001t0010g0214 a0001c0001t0010g0216 a0001c0001t0010g0217 a0001c0001t0010g0219 a0001c0001t0010g0222 a0001c0001t0010g0223 a0001c0001t0010g0228 a0001c0001t0011g0212 a0001c0001t0011g0213 a0001c0001t0011g0215 a0001c0001t0011g0218 a0001c0001t0011g0226 a0001c0001t0011g0227 a0001c0001t0020g0220 a0001c0001t0020g0221 a0001c0001t0021g0224 a0001c0001t0021g0225	18	246	0.0732	-36	c.262 others(53): Show c.262-1400_262-1365delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PGM5_chr9_68351611_68536061	68406660	GTATATAT others(29): Show GTATATATATATATATATGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG06807.hp1 others(1): Show HG02896.hp2 HG02897.hp2 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0016 a0001c0002t0002 a0001c0005t0016	a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0005t0016g0087 others(1): Show a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0005t0016g0087 a0001c0005t0016g0088	4	246	0.0163	-36	c.104 others(57): Show c.1043+14205_1043+14240delGTATATATATATATATATATATAT ATATATATATAT	PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PGM5_chr9_68351611_68536061	68411398	CACACATA others(29): Show CACACATATATACACACATACATGTGTGTATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00609.hp1 others(51): Show HG00408.hp1 HG00438.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG01243.hp1 HG01261.hp2 HG01433.hp2 HG02027.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp1 HG02698.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG04199.hp1 NA18612.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18961.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18972.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19057.hp1 NA19063.hp2 NA19067.hp1 NA19075.hp2 NA19081.hp1 NA19081.hp2 NA20905.hp1	a0000 a0001 a0004 a0000 a0001 a0004	a0000c0016 a0001c0001 a0001c0012 others(1): Show a0000c0016 a0001c0001 a0001c0012 a0004c0010	a0000c0016t0001 a0001c0001t0001 a0001c0001t0006 others(9): Show a0000c0016t0001 a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0001t0033 a0001c0012t0001 a0004c0010t0019	a0000c0016t0001g0112 a0001c0001t0001g0094 a0001c0001t0001g0097 others(51): Show a0000c0016t0001g0112 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0113 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0204 a0001c0001t0006g0118 a0001c0001t0006g0134 a0001c0001t0006g0139 a0001c0001t0006g0140 a0001c0001t0006g0154 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0168 a0001c0001t0009g0211 a0001c0001t0010g0214 a0001c0001t0010g0216 a0001c0001t0010g0217 a0001c0001t0010g0219 a0001c0001t0010g0222 a0001c0001t0010g0223 a0001c0001t0010g0228 a0001c0001t0011g0212 a0001c0001t0011g0213 a0001c0001t0011g0215 a0001c0001t0011g0218 a0001c0001t0011g0226 a0001c0001t0011g0227 a0001c0001t0012g0099 a0001c0001t0012g0123 a0001c0001t0020g0220 a0001c0001t0020g0221 a0001c0001t0021g0224 a0001c0001t0021g0225 a0001c0001t0033g0130 a0001c0012t0001g0110 a0004c0010t0019g0245	54	246	0.2195	-36	c.104 others(57): Show c.1043+18936_1043+18971delACACACATACATGTGTGTATATAT ATACACATATAT	PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PHACTR1_chr6_12711767_13292837	13064578	ATATATAT others(29): Show ATATATATATATATATATATATATATATCTATATATC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03195.hp2 HG02965.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0061 a0001c0001t0001g0036 a0001c0001t0001g0061	2	108	0.0185	-36	c.415 others(55): Show c.415+11053_415+11088delATATATATATATATATATATATATCT ATATATCTAT	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13064582	ATATATAT others(29): Show ATATATATATATATATATATATATCTATATATCTATC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp2 HG02572.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0011 a0001c0001t0001g0018	2	108	0.0185	-36	c.415 others(55): Show c.415+11057_415+11092delATATATATATATATATATATCTATAT ATCTATCTAT	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13218847	AGGAGGAA others(29): Show AGGAGGAAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	108	0.0093	-36	c.987 others(53): Show c.987-8968_987-8933delGGAGGAAAGAGAAGAGAAGAGAAGAGAA GAGAAGAG	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	8/14			chr6	TogoVar
PHACTR2_chr6_143672965_143836185	143771156	ATGTATAT others(29): Show ATGTATATATATATATATGTATATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03209.hp1 HG06807.hp2 HG03041.hp2 HG03209.hp1 HG06807.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0172 a0003c0004t0005g0260 a0003c0004t0005g0261 a0003c0004t0005g0172 a0003c0004t0005g0260 a0003c0004t0005g0261	3	310	0.0097	-36	c.123 others(55): Show c.1233-1084_1233-1049delGTATATATATATATATGTGTGTATAT ATATATATAT	PHACTR2	ENSG00000112419.15	transcript	ENST00000440869.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHF21B_chr22_44876162_45015005	44924062	GGGAGGGA others(29): Show GGGAGGGAGGGGAGGGAAGAGGGGAGGAAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(91): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00738.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01261.hp2 HG01928.hp2 HG01934.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02145.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG03209.hp2 HG03491.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18961.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18974.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19066.hp1 NA19074.hp2 NA19080.hp1 NA19084.hp1 NA19091.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003 a0005c0010 a0006c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0031 a0001c0001t0037 a0001c0001t0043 a0001c0001t0045 a0001c0002t0005 a0001c0004t0005 a0001c0005t0013 a0002c0003t0012 a0002c0003t0017 a0002c0003t0018 a0002c0003t0024 a0002c0003t0032 a0002c0003t0046 a0005c0010t0001 a0006c0015t0029	a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0040 others(91): Show a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0199 a0001c0001t0001g0230 a0001c0001t0001g0251 a0001c0001t0001g0264 a0001c0001t0002g0062 a0001c0001t0002g0117 a0001c0001t0002g0163 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0038 a0001c0001t0003g0067 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0118 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0140 a0001c0001t0003g0144 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0001t0003g0201 a0001c0001t0003g0208 a0001c0001t0003g0261 a0001c0001t0007g0279 a0001c0001t0007g0292 a0001c0001t0007g0294 a0001c0001t0008g0024 a0001c0001t0010g0044 a0001c0001t0010g0203 a0001c0001t0010g0206 a0001c0001t0010g0252 a0001c0001t0019g0128 a0001c0001t0019g0130 a0001c0001t0020g0119 a0001c0001t0020g0127 a0001c0001t0022g0273 a0001c0001t0022g0274 a0001c0001t0024g0286 a0001c0001t0031g0158 a0001c0001t0037g0066 a0001c0001t0043g0272 a0001c0001t0045g0290 a0001c0002t0005g0068 a0001c0004t0005g0064 a0001c0005t0013g0093 a0001c0005t0013g0156 a0002c0003t0012g0266 a0002c0003t0017g0007 a0002c0003t0018g0023 a0002c0003t0024g0297 a0002c0003t0032g0256 a0002c0003t0046g0299 a0005c0010t0001g0041 a0005c0010t0001g0076 a0006c0015t0029g0027	94	300	0.3133	-36	c.121 others(53): Show c.121-3608_121-3573delTCTCCTCCTTCCTCCCCTCTTCCCTCCC CTCCCTCC	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PHF2_chr9_93571584_93684587	93671528	ACAGGTGT others(29): Show ACAGGTGTAGATGCAGATGTGGGTGTGGGAGTAGGGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02717.hp2 others(2): Show HG01891.hp1 HG02451.hp2 HG02717.hp2 HG02886.hp1 NA18906.hp2	a0004 a0004	a0004c0010 a0004c0014 a0004c0016 a0004c0010 a0004c0014 a0004c0016	a0004c0010t0009 a0004c0014t0009 a0004c0016t0009 a0004c0010t0009 a0004c0014t0009 a0004c0016t0009	a0004c0010t0009g0148 a0004c0010t0009g0280 a0004c0010t0009g0285 others(2): Show a0004c0010t0009g0148 a0004c0010t0009g0280 a0004c0010t0009g0285 a0004c0014t0009g0149 a0004c0016t0009g0078	5	350	0.0143	-36	c.234 others(55): Show c.2349-2005_2349-1970delATGTGGGTGTGGGAGTAGGGTCAGGT GTAGATGCAG	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PHF2_chr9_93571584_93684587	93671888	ACAGGTGT others(29): Show ACAGGTGTAGATGCAGATGTGGGTGTGGGAGTAGGGT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02109.hp1 HG02258.hp1 others(6): Show HG01081.hp2 HG02109.hp1 HG02258.hp1 HG02647.hp2 HG02809.hp1 HG03130.hp1 HG03540.hp2 NA18987.hp1 NA20129.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0015 a0001c0017 others(2): Show a0001c0001 a0001c0015 a0001c0017 a0002c0002 a0005c0008	a0001c0001t0001 a0001c0015t0013 a0001c0017t0001 others(2): Show a0001c0001t0001 a0001c0015t0013 a0001c0017t0001 a0002c0002t0001 a0005c0008t0008	a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0015t0013g0147 others(6): Show a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0015t0013g0147 a0001c0017t0001g0075 a0002c0002t0001g0040 a0005c0008t0008g0043 a0005c0008t0008g0044 a0005c0008t0008g0046 a0005c0008t0008g0334	9	350	0.0257	-36	c.234 others(55): Show c.2349-1590_2349-1555delGTCAGGTGTAGATGCAGATGTGGGTG TGGGAGTAGG	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PHF2_chr9_93571584_93684587	93672093	TGGATGTA others(29): Show TGGATGTAGGTACAGGTGTAGATGCAGGTGTGGGTGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02965.hp1 HG01891.hp2 HG02965.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0321 a0001c0007t0012g0331 a0001c0007t0012g0321 a0001c0007t0012g0331	2	350	0.0057	-36	c.234 others(55): Show c.2349-1456_2349-1421delCGGATGTAGGTACAGGTGTAGATGCA GGTGTGGGTG	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PHF2_chr9_93571584_93684587	93672377	AGTGTGGG others(29): Show AGTGTGGGAGTAGGCACAGGTGCAGGTGCAGGTGTGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG00738.hp1 others(57): Show HG00423.hp1 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG06807.hp2 NA18945.hp2 NA18952.hp1 NA18968.hp2 NA18981.hp1 NA18983.hp2 NA18985.hp1 NA18999.hp2 NA19000.hp2 NA19057.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0015 a0001c0017 a0001c0023 a0005c0008 a0006c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0003t0008 a0001c0004t0005 a0001c0004t0010 a0001c0005t0005 a0001c0005t0010 a0001c0005t0014 a0001c0007t0001 a0001c0007t0012 a0001c0015t0013 a0001c0017t0001 a0001c0023t0003 a0005c0008t0008 a0006c0025t0019	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 others(54): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0179 a0001c0001t0001g0276 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0002g0120 a0001c0001t0008g0291 a0001c0001t0008g0292 a0001c0003t0008g0288 a0001c0004t0005g0002 a0001c0004t0005g0066 a0001c0004t0005g0067 a0001c0004t0005g0068 a0001c0004t0005g0070 a0001c0004t0005g0071 a0001c0004t0005g0072 a0001c0004t0005g0074 a0001c0004t0010g0004 a0001c0005t0005g0056 a0001c0005t0005g0059 a0001c0005t0010g0058 a0001c0005t0010g0061 a0001c0005t0010g0063 a0001c0005t0014g0209 a0001c0005t0014g0210 a0001c0007t0001g0298 a0001c0007t0001g0336 a0001c0007t0012g0321 a0001c0007t0012g0331 a0001c0015t0013g0147 a0001c0017t0001g0075 a0001c0023t0003g0268 a0005c0008t0008g0043 a0005c0008t0008g0044 a0005c0008t0008g0046 a0005c0008t0008g0334 a0006c0025t0019g0281	60	350	0.1714	-36	c.234 others(55): Show c.2349-1150_2349-1115delCAGGTGCAGGTGTGGGTGTGGGAGTA GGCACAGGTG	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PHF2_chr9_93571584_93684587	93672681	GAGGTACA others(29): Show GAGGTACAGGTGTAGATGCAGGTATGGGTATAGGAGT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02895.hp1 HG02897.hp2 others(5): Show HG02622.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03579.hp2 NA18941.hp2 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0023 a0001c0001t0001g0166 a0001c0001t0001g0273 others(5): Show a0001c0001t0001g0023 a0001c0001t0001g0166 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0002g0126	8	350	0.0229	-36	c.234 others(53): Show c.2349-812_2349-777delGGTATGGGTATAGGAGTAGGTACAGGTG TAGATGCA	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PHKG2_chr16_30743425_30766176	30748999	GGGTGGTG others(29): Show GGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01891.hp2 HG01256.hp2 HG01258.hp1 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013	a0001c0001t0003g0022 a0001c0001t0005g0077 a0001c0001t0013g0022 a0001c0001t0003g0022 a0001c0001t0005g0077 a0001c0001t0013g0022	3	264	0.0114	-36	c.95+ others(49): Show c.95+140_95+175delGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTG	PHKG2	ENSG00000156873.16	transcript	ENST00000563588.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
PHKG2_chr16_30743425_30766176	30749055	GTGGTGGT others(29): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	264	0.0038	-36	c.95+ others(49): Show c.95+143_95+178delGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GCTG	PHKG2	ENSG00000156873.16	transcript	ENST00000563588.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
PHKG2_chr16_30743425_30766176	30749088	GTGCTGCT others(29): Show GTGCTGCTGCTGCTGCTGCTGCTGGTGGTGCTGGTGC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01255.hp2 NA19074.hp1 HG00280.hp1 HG01255.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0048 a0001c0001t0003g0021 a0001c0001t0002g0048 a0001c0001t0003g0021	3	264	0.0114	-36	c.95+ others(49): Show c.95+176_95+211delCTGCTGCTGCTGCTGCTGCTGGTGGTGCTGGT GCTG	PHKG2	ENSG00000156873.16	transcript	ENST00000563588.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
PHLDA2_chr11_2923273_2934420	2926282	CACCAGAC others(29): Show CACCAGACACTGCCAGCCACCCGAACCCCAGAACCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	375	0.0027	-36	c.23 others(47): Show c.2360_*2395delACGGTTCTGGGGTTCGGGTGGCTGGCAGTGTCTG GT	PHLDA2	ENSG00000181649.8	transcript	ENST00000314222.5	protein_coding		1990		chr11	TogoVar
PHLDB3_chr19_43470103_43509746	43507164	CCCCCAGC others(29): Show CCCCCAGCCCTTCCTTCCTCAGACCCAGGAGTCCAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0271 a0001c0007t0003g0271	1	396	0.0025	-36	c.-26 others(47): Show c.-2626_-2591delACTGGACTCCTGGGTCTGAGGAAGGAAGGGCTGG GG	PHLDB3	ENSG00000176531.11	transcript	ENST00000292140.10	protein_coding		2419		chr19	TogoVar
PI4K2A_chr10_97635671_97681434	97678880	GGTGTGTG others(29): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01081.hp2 HG01256.hp1 others(1): Show HG01069.hp1 HG01081.hp2 HG01256.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0280 others(1): Show a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0003t0003g0006	4	350	0.0114	-36	c.51 others(47): Show c.5139_*5174delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2447		chr10	TogoVar
PIAS2_chr18_46798218_46922507	46803044	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	322	0.0031	-36	c.93 others(47): Show c.9353_*9388delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding		173		chr18	TogoVar
PIBF1_chr13_72777133_73021461	72790510	CATAGATA others(29): Show CATAGATAGATAGATAGATAGATAGATAGATAGATAG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02451.hp2 HG01891.hp1 HG02280.hp2 HG02451.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0344 a0001c0006t0002g0345 a0001c0006t0002g0346 a0001c0006t0002g0344 a0001c0006t0002g0345 a0001c0006t0002g0346	3	346	0.0087	-36	c.253 others(53): Show c.253-1917_253-1882delGATAGATAGATAGATAGATAGATAGATA GATAGATA	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PID1_chr2_229018973_229276287	229139021	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG02897.hp2 others(2): Show HG00639.hp1 HG00733.hp1 HG02897.hp2 HG03098.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0126 a0001c0001t0001g0159 a0001c0001t0001g0163 others(2): Show a0001c0001t0001g0126 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0003g0211 a0001c0001t0003g0235	5	256	0.0195	-36	c.177 others(55): Show c.177+16761_177+16796delCTTTCTTTCTTTCTTTCTCTTTCTTT CTTTCTTTCT	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PID1_chr2_229018973_229276287	229249783	TGGCTGAC others(29): Show TGGCTGACAGGAGTATGATCCCCTGGGCAGGGCAGGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03225.hp2 HG00639.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0022 a0001c0001t0001 a0001c0002t0022	a0001c0001t0001g0159 a0001c0002t0022g0218 a0001c0001t0001g0159 a0001c0002t0022g0218	2	256	0.0078	-36	c.30+ others(53): Show c.30+21195_30+21230delGCCTGCCCTGCCCAGGGGATCATACTCC TGTCAGCC	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2			chr2	TogoVar
PID1_chr2_229018973_229276287	229249813	GGCAGGCG others(29): Show GGCAGGCGGCTGACAGGAGTATGATCCCCCAGGCAGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00544.hp1 others(30): Show HG00140.hp1 HG00438.hp1 HG00544.hp1 HG00673.hp1 HG00741.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01943.hp2 HG01978.hp1 HG02027.hp1 HG02129.hp2 HG03225.hp1 HG03239.hp1 HG03486.hp1 HG03492.hp2 HG03654.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp2 NA18522.hp2 NA18942.hp1 NA18944.hp2 NA18959.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp2 NA19056.hp2 NA19068.hp2 NA19085.hp1 NA19086.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0007 a0001c0002t0020	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 others(30): Show a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0239 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0147 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0003g0096 a0001c0001t0003g0107 a0001c0001t0003g0117 a0001c0001t0003g0149 a0001c0001t0005g0148 a0001c0002t0007g0098 a0001c0002t0020g0150	33	256	0.1289	-36	c.30+ others(53): Show c.30+21165_30+21200delTCTGCCTGGGGGATCATACTCCTGTCAG CCGCCTGC	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2			chr2	TogoVar
PIEZO2_chr18_10665247_11154569	10720399	GTGTGTAT others(29): Show GTGTGTATGTGTATGTGTATGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA21309.hp1 HG02486.hp1 NA21309.hp1	a0002 a0005 a0002 a0005	a0002c0072 a0005c0008 a0002c0072 a0005c0008	a0002c0072t0001 a0005c0008t0001 a0002c0072t0001 a0005c0008t0001	a0002c0072t0001g0044 a0005c0008t0001g0023 a0002c0072t0001g0044 a0005c0008t0001g0023	2	158	0.0127	-36	c.503 others(55): Show c.5030-2176_5030-2141delTATATATATATATATACATACACATA CACATACACA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10720409	GTATGTGT others(29): Show GTATGTGTATGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01192.hp1 HG02145.hp2 others(7): Show HG00639.hp1 HG01192.hp1 HG02145.hp2 HG02572.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03225.hp2 NA19063.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0011 a0017 a0020	a0001c0040 a0002c0001 a0002c0045 others(4): Show a0001c0040 a0002c0001 a0002c0045 a0004c0073 a0011c0060 a0017c0016 a0020c0067	a0001c0040t0001 a0002c0001t0001 a0002c0001t0002 others(5): Show a0001c0040t0001 a0002c0001t0001 a0002c0001t0002 a0002c0045t0001 a0004c0073t0002 a0011c0060t0003 a0017c0016t0003 a0020c0067t0001	a0001c0040t0001g0106 a0002c0001t0001g0038 a0002c0001t0001g0087 others(7): Show a0001c0040t0001g0106 a0002c0001t0001g0038 a0002c0001t0001g0087 a0002c0001t0002g0146 a0002c0001t0002g0151 a0002c0045t0001g0071 a0004c0073t0002g0062 a0011c0060t0003g0078 a0017c0016t0003g0090 a0020c0067t0001g0051	10	158	0.0633	-36	c.503 others(55): Show c.5030-2186_5030-2151delTATATATATATATATATATATATATA CATACACATA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55			chr18	TogoVar

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Search Results (Total: 3870 hits)