Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PI4K2A_chr10_97635671_97681434	97678953	GTGTGTGT others(40): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0315 a0001c0002t0009g0315	1	350	0.0029	-47	c.52 others(58): Show c.5212_*5258delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2520		chr10	TogoVar
PIGL_chr17_16212210_16331411	16312053	ACCTCCCG others(40): Show ACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGCTGCCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19030.hp2 HG02886.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0084 a0001c0001t0006g0106 a0001c0001t0001g0084 a0001c0001t0006g0106	2	246	0.0081	-47	c.427 others(64): Show c.427-1484_427-1438delCGGGGTGGCTGGCCGGGTGGGGGCTGCC CCCCCACCTCCCTCCCGGA	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PIGU_chr20_34555542_34682092	34631741	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01167.hp2 HG01243.hp2 others(2): Show HG00738.hp1 HG01167.hp2 HG01243.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 others(2): Show a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176	5	320	0.0156	-47	c.529 others(64): Show c.529+2827_529+2873delAAATATATATATATATATATATATATAT ATATATATATATATATATA	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIGU_chr20_34555542_34682092	34631755	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	320	0.0031	-47	c.529 others(64): Show c.529+2813_529+2859delAAAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATA	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIGU_chr20_34555542_34682092	34631757	ATATATAT others(40): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03669.hp1 NA18982.hp2 others(1): Show HG02083.hp2 HG03669.hp1 NA18982.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0079 a0001c0001t0001g0092 others(1): Show a0001c0001t0001g0066 a0001c0001t0001g0079 a0001c0001t0001g0092 a0001c0001t0001g0130	4	320	0.0125	-47	c.529 others(64): Show c.529+2811_529+2857delAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATA	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIMREG_chr17_6439455_6456469	6451767	ATGATTTT others(40): Show ATGATTTTTACGAAGGTTTCCCCCAAGCCCGGAAGGAAAGGAAGGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	312	0.0032	-47	c.14 others(58): Show c.1421_*1467delTGATTTTTACGAAGGTTTCCCCCAAGCCCGGAAG GAAAGGAAGGAGG	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		299		chr17	TogoVar
PIP5K1C_chr19_3625183_3705468	3683883	TCCCCCAC others(40): Show TCCCCCACACTGGAGCCCCTGCTTCCCCTCCCGGGCAGTCCCACACCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp2 HG02630.hp2 others(1): Show HG02451.hp2 HG02622.hp2 HG02630.hp2 HG03225.hp2	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0005 a0003c0004 a0009c0024 a0002c0005 a0003c0004 a0009c0024	a0002c0005t0036 a0003c0004t0006 a0009c0024t0038 a0002c0005t0036 a0003c0004t0006 a0009c0024t0038	a0002c0005t0036g0174 a0003c0004t0006g0172 a0003c0004t0006g0223 others(1): Show a0002c0005t0036g0174 a0003c0004t0006g0172 a0003c0004t0006g0223 a0009c0024t0038g0329	4	332	0.0121	-47	c.94+ others(64): Show c.94+16367_94+16413delGGGTGTGGGACTGCCCGGGAGGGGAAGC AGGGGCTCCAGTGTGGGGG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	1/17			chr19	TogoVar
PKD2L1_chr10_100283149_100335228	100314984	AAGGAAGG others(40): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGGAAGGGAAGGG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0292 a0001c0010t0001g0292	1	306	0.0033	-47	c.349 others(66): Show c.349+14180_349+14226delCCCTTCCCTTCCCTTCCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCT	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100314997	AGGAAGGA others(40): Show AGGAAGGAAGGAAGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp2 HG00741.hp1 others(13): Show HG00544.hp1 HG00735.hp2 HG00741.hp1 HG01081.hp1 HG01168.hp2 HG01169.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG02040.hp2 HG02559.hp2 HG02698.hp1 HG03579.hp1 HG04115.hp1 NA20752.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0001 a0001c0001t0001 a0006c0007t0001	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0095 others(13): Show a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0119 a0001c0001t0001g0179 a0001c0001t0001g0230 a0001c0001t0001g0250 a0001c0001t0001g0259 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0006c0007t0001g0024 a0006c0007t0001g0026	16	306	0.0523	-47	c.349 others(66): Show c.349+14167_349+14213delCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCTTCCTTCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKHD1L1_chr8_109357461_109542207	109380177	CCTCTTGT others(40): Show CCTCTTGTATTAAATCTTAGCAGAGATCTCAGCTGGCTACCTCTAACA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02895.hp2 HG01243.hp2 HG02895.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0019c0019 a0001c0001 a0019c0019	a0001c0001t0002 a0019c0019t0004 a0001c0001t0002 a0019c0019t0004	a0001c0001t0002g0198 a0019c0019t0004g0180 a0001c0001t0002g0198 a0019c0019t0004g0180	2	282	0.0071	-47	c.164 others(64): Show c.164-1173_164-1127delCAGAGATCTCAGCTGGCTACCTCTAACA CTCTTGTATTAAATCTTAG	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	2/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKLR_chr1_155284293_155306438	155298953	CCTTTCTT others(40): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0210 a0001c0002t0002g0210	1	311	0.0032	-47	c.283 others(64): Show c.283+1098_283+1144delAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAG	PKLR	ENSG00000143627.19	transcript	ENST00000342741.6	protein_coding	2/10			chr1	TogoVar
PKP2_chr12_32785755_32901777	32858106	TATATATA others(40): Show TATATATATATTTATATATATTTTATATTTATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01346.hp1 HG02698.hp1 others(1): Show HG01081.hp2 HG01346.hp1 HG02698.hp1 NA18962.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0020 a0002c0002 a0009c0020	a0002c0002t0001 a0002c0002t0002 a0009c0020t0001 a0002c0002t0001 a0002c0002t0002 a0009c0020t0001	a0002c0002t0001g0239 a0002c0002t0001g0241 a0002c0002t0002g0238 others(1): Show a0002c0002t0001g0239 a0002c0002t0001g0241 a0002c0002t0002g0238 a0009c0020t0001g0326	4	342	0.0117	-47	c.117 others(66): Show c.1171-7180_1171-7134delTTATATATATATATATATAAATATAA AATATATATAAATATATATAT	PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	4/12			chr12	TogoVar
PKP3_chr11_389209_409908	402186	CGGCCCCG others(40): Show CGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCG	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0021 a0001c0007t0001g0021	1	216	0.0046	-47	c.173 others(64): Show c.1738-890_1738-844delGCCCCGCTCACCCCCGGCTCCACTGACC CCGGCCCCGCTCACCCCGG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402419	CGGCCCCG others(40): Show CGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCG	C C	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0104 a0001c0009t0001g0104	1	216	0.0046	-47	c.173 others(64): Show c.1738-657_1738-611delGCCCCGCTCACCCCCGGCTCCACTGACC CCGGCCCCGCTCACCCCGG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLAC1_chrX_134560838_134663471	134603289	ATATATAT others(40): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	252	0.0040	-47	c.-13 others(66): Show c.-130-1214_-130-1168delAAAAAAAAAAAAAAAAAAAAAAATAT ATATATATATATATATATATA	PLAC1	ENSG00000170965.10	transcript	ENST00000359237.9	protein_coding	1/2			chrX	TogoVar
PLCB4_chr20_9064087_9485808	9413339	CCAGTGGC others(40): Show CCAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCCGAGGCGGG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 NA18522.hp1 HG01891.hp1 HG02055.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0012 a0001c0003t0001 a0001c0001t0003 a0001c0001t0012 a0001c0003t0001	a0001c0001t0003g0060 a0001c0001t0012g0118 a0001c0003t0001g0135 a0001c0001t0003g0060 a0001c0001t0012g0118 a0001c0003t0001g0135	3	140	0.0214	-47	c.205 others(66): Show c.2051+2302_2051+2348delTGGCTCACACCTGGAATCCCAGCACT TTGGGAGGCCGAGGCGGGCAG	PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	25/39		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLD1_chr3_171595404_171815483	171764864	AAAGAAAG others(40): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0242 a0002c0003t0005g0242	1	294	0.0034	-47	c.-31 others(66): Show c.-31-26829_-31-26783delCTTCCTTCCTTCCTTCCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTT	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLD1_chr3_171595404_171815483	171764867	GAAAGAAA others(40): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19062.hp1 NA18942.hp2 NA19062.hp1	a0002 a0002	a0002c0003 a0002c0017 a0002c0003 a0002c0017	a0002c0003t0003 a0002c0017t0005 a0002c0003t0003 a0002c0017t0005	a0002c0003t0003g0164 a0002c0017t0005g0168 a0002c0003t0003g0164 a0002c0017t0005g0168	2	294	0.0068	-47	c.-31 others(66): Show c.-31-26832_-31-26786delTTCCTTCCTTCCTTCCTTCCTTTCTT TCTTTCTTTCTTTCTTTCTTT	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLEKHG1_chr6_150594885_150848665	150810496	GAGGGAAA others(40): Show GAGGGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01123.hp2 HG01256.hp1 others(6): Show HG00735.hp2 HG01123.hp2 HG01256.hp1 HG01346.hp1 HG01496.hp2 HG03669.hp2 NA18954.hp2 NA19005.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 others(2): Show a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0046	a0001c0002t0001 a0001c0002t0016 a0001c0004t0004 others(5): Show a0001c0002t0001 a0001c0002t0016 a0001c0004t0004 a0001c0004t0030 a0001c0005t0006 a0001c0006t0004 a0001c0006t0008 a0001c0046t0004	a0001c0002t0001g0112 a0001c0002t0016g0221 a0001c0004t0004g0248 others(6): Show a0001c0002t0001g0112 a0001c0002t0016g0221 a0001c0004t0004g0248 a0001c0004t0030g0033 a0001c0005t0006g0031 a0001c0006t0004g0037 a0001c0006t0004g0151 a0001c0006t0008g0175 a0001c0046t0004g0032	9	272	0.0331	-47	c.127 others(64): Show c.1278+764_1278+810delGGGAAAGAAAGAAAGAAAAAGAAAGAAA GAAAGAAAGAAAGGAAGAA	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLPP2_chr19_276043_296403	282439	ACCTGCCA others(40): Show ACCTGCCAGGCGCTCCCCCTCCCCCTGCACAGACGTGTTAGCCTTGCG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02129.hp2 HG02735.hp2 HG01891.hp2 HG02129.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0201 a0001c0001t0002g0106 a0001c0001t0002g0129 a0001c0001t0001g0201 a0001c0001t0002g0106 a0001c0001t0002g0129	3	354	0.0085	-47	c.541 others(62): Show c.541-176_541-130delCGCAAGGCTAACACGTCTGTGCAGGGGGAG GGGGAGCGCCTGGCAGG	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding	4/5			chr19	TogoVar
PLPP3_chr1_56489761_56584563	56520592	AGTGGCTC others(40): Show AGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGTGGGTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp2 HG00738.hp1 others(30): Show HG00323.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01167.hp2 HG01255.hp1 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG02004.hp2 HG02040.hp2 HG02273.hp2 HG02559.hp1 HG02647.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03579.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18967.hp2 NA18994.hp1 NA19004.hp2 NA19058.hp1 NA19062.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0003t0012	a0001c0001t0002g0228 a0001c0001t0002g0318 a0001c0001t0003g0135 others(30): Show a0001c0001t0002g0228 a0001c0001t0002g0318 a0001c0001t0003g0135 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0269 a0001c0001t0003g0274 a0001c0001t0004g0270 a0001c0001t0017g0267 a0001c0003t0001g0285 a0001c0003t0004g0011 a0001c0003t0004g0024 a0001c0003t0004g0030 a0001c0003t0004g0056 a0001c0003t0004g0092 a0001c0003t0004g0094 a0001c0003t0004g0170 a0001c0003t0004g0173 a0001c0003t0004g0190 a0001c0003t0004g0191 a0001c0003t0004g0207 a0001c0003t0004g0212 a0001c0003t0004g0217 a0001c0003t0004g0222 a0001c0003t0004g0235 a0001c0003t0004g0261 a0001c0003t0004g0328 a0001c0003t0005g0061 a0001c0003t0005g0068 a0001c0003t0005g0069 a0001c0003t0005g0070 a0001c0003t0005g0213 a0001c0003t0012g0006	33	336	0.0982	-47	c.633 others(64): Show c.633+3184_633+3230delCACCCACCTCAGCCTCCCAAAGTGTTGG GATTACAGGCATGAGCCAC	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	4/5			chr1	TogoVar
PLPP4_chr10_120452227_120597065	120592607	CCCAGCCC others(40): Show CCCAGCCCAAACACATATTCCCCCAAGAGAAGTCAAGAATCTTCATTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0081 a0001c0002t0012g0081	1	328	0.0031	-47	c.31 others(58): Show c.3106_*3152delCCAGCCCAAACACATATTCCCCCAAGAGAAGTCA AGAATCTTCATTT	PLPP4	ENSG00000203805.11	transcript	ENST00000398250.6	protein_coding		543		chr10	TogoVar
PNPLA7_chr9_137454952_137555402	137536849	CACTTCAT others(40): Show CACTTCATCTCCCACGACAGGAAGCATGGGGGCCATCCTCTGAGCCAT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp2 HG02970.hp2 others(1): Show HG02717.hp2 HG02886.hp2 HG02970.hp2 HG03209.hp2	a0008 a0012 a0017 others(1): Show a0008 a0012 a0017 a0018	a0008c0014 a0012c0015 a0017c0029 others(1): Show a0008c0014 a0012c0015 a0017c0029 a0018c0030	a0008c0014t0001 a0012c0015t0001 a0017c0029t0001 others(1): Show a0008c0014t0001 a0012c0015t0001 a0017c0029t0001 a0018c0030t0001	a0008c0014t0001g0151 a0012c0015t0001g0168 a0017c0029t0001g0172 others(1): Show a0008c0014t0001g0151 a0012c0015t0001g0168 a0017c0029t0001g0172 a0018c0030t0001g0156	4	188	0.0213	-47	c.747 others(64): Show c.747+3746_747+3792delATGGCTCAGAGGATGGCCCCCATGCTTC CTGTCGTGGGAGATGAAGT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	8/34			chr9	TogoVar
POTEB3_chr15_21400401_21445499	21410726	GGTGTGTG others(40): Show GGTGTGTGTGTGTGTGTGTATATATACACACACACAGACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0020 a0001c0005t0020	a0001c0005t0020g0043 a0001c0005t0020g0043	1	54	0.0185	-47	c.153 others(64): Show c.1533+105_1533+151delTGTGTGTGTGTCTGTGTGTGTGTATATA TACACACACACACACACAC	POTEB3	ENSG00000278522.5	transcript	ENST00000611217.5	protein_coding	10/10			chr15	TogoVar
PPA1_chr10_70197835_70238429	70220908	TATAATAT others(40): Show TATAATATATATAATTTTTATATATACTATATATATAATTTATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG01175.hp2 others(12): Show HG00099.hp1 HG00323.hp2 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01358.hp2 HG01978.hp2 HG02109.hp2 HG02258.hp1 HG02683.hp1 HG02698.hp2 HG02738.hp1 HG03927.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0311 a0001c0001t0002g0316 others(9): Show a0001c0001t0002g0005 a0001c0001t0002g0311 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0321 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0335	15	408	0.0368	-47	c.124 others(64): Show c.124-2138_124-2092delTATATATAAATTATATATATAGTATATA TAAAAATTATATATATTAT	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10			chr10	TogoVar
PPM1H_chr12_62638994_62940150	62817116	TAAAAAAA others(40): Show TAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAACTAAAAAAAAGAA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02970.hp1 HG02572.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0136 a0001c0001t0010g0194 a0001c0001t0010g0136 a0001c0001t0010g0194	2	252	0.0079	-47	c.411 others(66): Show c.411+14951_412-14957delTTCTTTTTTTTAGTTTTTTTTTTTTT CTTTTTTTTTTTTTTTTTTTT	PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	2/9			chr12	TogoVar
PPM1J_chr1_112704998_112720332	112706430	TACACACA others(40): Show TACACACACACACACACACACACACACACACACACCACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG03017.hp1 HG02698.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0060 a0001c0001t0001g0002 a0001c0001t0001g0060	2	422	0.0047	-47	c.36 others(58): Show c.3686_*3732delGTGTGTGTGTGTGGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGT	PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding		3567		chr1	TogoVar
PPP1R16B_chr20_38800697_38928024	38896140	TTTCCTTC others(40): Show TTTCCTTCTTTCTTCCTCCCTCCCTTCCTTCCTTCTTTCTTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03579.hp2 HG03688.hp2 others(2): Show HG02559.hp1 HG03579.hp2 HG03688.hp2 NA18943.hp1 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0004 a0001c0002t0002g0136 a0001c0002t0002g0187 others(2): Show a0001c0002t0002g0004 a0001c0002t0002g0136 a0001c0002t0002g0187 a0001c0002t0002g0211 a0001c0002t0004g0126	5	244	0.0205	-47	c.467 others(62): Show c.467+446_467+492delTCCCTCCCTTCCTTCCTTCTTTCTTCCCTC CCTTCCTTCTTTCTTCC	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R37_chr19_45088179_45152285	45089423	TTCCAGAT others(40): Show TTCCAGATTTGGCCACTGGGAGCCCTTTCAAGCTAGCTCATGTGTGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	342	0.0029	-47	c.-39 others(58): Show c.-3902_-3856delTCCAGATTTGGCCACTGGGAGCCCTTTCAAGCTA GCTCATGTGTGAG	PPP1R37	ENSG00000104866.11	transcript	ENST00000221462.9	protein_coding		3755		chr19	TogoVar
PPP2R5D_chr6_42979570_43017342	42998029	ATATATAT others(40): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0208 a0001c0001t0004g0208	1	306	0.0033	-47	c.105 others(64): Show c.105+8343_106-8386delATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTT	PPP2R5D	ENSG00000112640.16	transcript	ENST00000485511.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP2R5D_chr6_42979570_43017342	42998031	ATATATAT others(40): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19043.hp1 HG02258.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0204 a0001c0001t0004g0207 a0001c0001t0004g0204 a0001c0001t0004g0207	2	306	0.0065	-47	c.105 others(64): Show c.105+8345_106-8384delATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTTTT	PPP2R5D	ENSG00000112640.16	transcript	ENST00000485511.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP2R5E_chr14_63366364_63548377	63377788	CCCTGAAA others(40): Show CCCTGAAAAAATTGCACTTATAGGACAATAAGGGCAAGATTAGATAAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	252	0.0040	-47	c.130 others(66): Show c.1305-1727_1305-1681delATTATCTAATCTTGCCCTTATTGTCC TATAAGTGCAATTTTTTCAGG	PPP2R5E	ENSG00000154001.14	transcript	ENST00000337537.8	protein_coding	13/13			chr14	TogoVar
PPP3CA_chr4_101018418_101352526	101106449	GAAAGAGA others(40): Show GAAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02280.hp2 others(3): Show HG01884.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0015 a0001c0001t0057 a0001c0001t0009 a0001c0001t0015 a0001c0001t0057	a0001c0001t0009g0012 a0001c0001t0009g0013 a0001c0001t0009g0014 others(3): Show a0001c0001t0009g0012 a0001c0001t0009g0013 a0001c0001t0009g0014 a0001c0001t0009g0035 a0001c0001t0015g0007 a0001c0001t0057g0095	6	192	0.0313	-47	c.384 others(64): Show c.384+2458_384+2504delTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTCTTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PPP5C_chr19_46342087_46395975	46389358	TCAAAACA others(40): Show TCAAAACACACACACACACACACACACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	394	0.0025	-47	c.135 others(64): Show c.1355+630_1356-644delAAACACACACACACACACACACACACAC ACACACACACACACACACA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP5C_chr19_46342087_46395975	46394679	GCAGTTTA others(40): Show GCAGTTTACAGGCACTTTGGGTCCTCGCAACAGCCCCATTTTACAGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0196 a0001c0001t0007g0196	1	394	0.0025	-47	c.43 others(58): Show c.4334_*4380delCAGTTTACAGGCACTTTGGGTCCTCGCAACAGCC CCATTTTACAGAT	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding		3705		chr19	TogoVar
PPP6R2_chr22_50338327_50450090	50425713	GGTGTCTC others(40): Show GGTGTCTCCGTGTGGCTGATGCTCGTCATCTGATGTGCGTGTGGAACA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	340	0.0029	-47	c.112 others(66): Show c.1125+2113_1125+2159delGCTGATGCTCGTCATCTGATGTGCGT GTGGAACAGTGTCTCCGTGTG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPTC7_chr12_110528245_110588318	110564772	ATATATAT others(40): Show ATATATATACATACACGTTATATATATATACACGTATATGTATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01167.hp2 HG01175.hp1 others(27): Show HG00323.hp2 HG01167.hp2 HG01175.hp1 HG01361.hp1 HG01891.hp2 HG02055.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG04184.hp1 NA18952.hp1 NA19043.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0030 a0001c0002t0004 a0001c0004t0010	a0001c0001t0003g0283 a0001c0001t0003g0285 a0001c0001t0003g0286 others(27): Show a0001c0001t0003g0283 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0001t0008g0287 a0001c0001t0008g0290 a0001c0001t0008g0292 a0001c0001t0008g0304 a0001c0001t0010g0291 a0001c0001t0010g0294 a0001c0001t0030g0284 a0001c0002t0004g0297 a0001c0004t0010g0293	30	328	0.0915	-47	c.224 others(66): Show c.224-12851_224-12805delCACATATACATATACGTGTATATATA TATAACGTGTATGTATATATA	PPTC7	ENSG00000196850.6	transcript	ENST00000354300.5	protein_coding	1/5			chr12	TogoVar
PRDM15_chr21_41793225_41884344	41813936	CCTCGTGT others(40): Show CCTCGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATGAGAACGA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19030.hp2 NA21309.hp2 HG02630.hp1 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0006 a0001c0025 a0001c0006 a0001c0025	a0001c0006t0013 a0001c0025t0013 a0001c0006t0013 a0001c0025t0013	a0001c0006t0013g0038 a0001c0006t0013g0063 a0001c0025t0013g0036 a0001c0006t0013g0038 a0001c0006t0013g0063 a0001c0025t0013g0036	3	406	0.0074	-47	c.239 others(66): Show c.2392+1722_2392+1768delTCGTTCTCATAAAACACTAGAGCACC CTGCGCAATCACTAACACGAG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	19/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41814520	GGTGCTCT others(40): Show GGTGCTCTAGTGTTTTATGAGAACGACTTGTGTTAGTGATTGCGCAGC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00544.hp1 others(63): Show HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00673.hp1 HG01258.hp1 HG01361.hp1 HG01496.hp1 HG01952.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02155.hp2 HG02273.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02735.hp1 HG02818.hp1 HG02922.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 NA18939.hp1 NA18940.hp2 NA18943.hp1 NA18948.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19068.hp2 NA19081.hp2 NA19083.hp1 NA20752.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0004 a0001c0006 a0001c0014 others(9): Show a0001c0004 a0001c0006 a0001c0014 a0001c0020 a0001c0021 a0001c0027 a0001c0037 a0002c0007 a0002c0015 a0002c0024 a0002c0046 a0008c0051	a0001c0004t0003 a0001c0006t0005 a0001c0014t0003 others(14): Show a0001c0004t0003 a0001c0006t0005 a0001c0014t0003 a0001c0014t0023 a0001c0020t0004 a0001c0020t0005 a0001c0020t0021 a0001c0021t0003 a0001c0027t0005 a0001c0027t0048 a0001c0037t0003 a0002c0007t0005 a0002c0007t0046 a0002c0015t0005 a0002c0024t0005 a0002c0046t0040 a0008c0051t0003	a0001c0004t0003g0004 a0001c0004t0003g0031 a0001c0004t0003g0104 others(62): Show a0001c0004t0003g0004 a0001c0004t0003g0031 a0001c0004t0003g0104 a0001c0004t0003g0107 a0001c0004t0003g0139 a0001c0004t0003g0187 a0001c0004t0003g0188 a0001c0004t0003g0195 a0001c0004t0003g0197 a0001c0004t0003g0208 a0001c0004t0003g0209 a0001c0004t0003g0211 a0001c0004t0003g0212 a0001c0004t0003g0235 a0001c0004t0003g0236 a0001c0004t0003g0241 a0001c0004t0003g0264 a0001c0004t0003g0266 a0001c0004t0003g0294 a0001c0004t0003g0317 a0001c0004t0003g0352 a0001c0004t0003g0355 a0001c0004t0003g0359 a0001c0004t0003g0360 a0001c0004t0003g0367 a0001c0004t0003g0370 a0001c0004t0003g0373 a0001c0004t0003g0374 a0001c0006t0005g0002 a0001c0006t0005g0039 a0001c0006t0005g0041 a0001c0014t0003g0123 a0001c0014t0003g0335 a0001c0014t0003g0346 a0001c0014t0023g0156 a0001c0014t0023g0157 a0001c0020t0004g0331 a0001c0020t0005g0297 a0001c0020t0021g0255 a0001c0021t0003g0213 a0001c0021t0003g0239 a0001c0027t0005g0256 a0001c0027t0048g0263 a0001c0037t0003g0007 a0002c0007t0005g0051 a0002c0007t0005g0124 a0002c0007t0005g0131 a0002c0007t0005g0133 a0002c0007t0005g0134 a0002c0007t0005g0140 a0002c0007t0005g0198 a0002c0007t0005g0210 a0002c0007t0005g0222 a0002c0007t0005g0233 a0002c0007t0005g0259 a0002c0007t0005g0336 a0002c0007t0046g0128 a0002c0015t0005g0216 a0002c0015t0005g0340 a0002c0015t0005g0401 a0002c0015t0005g0402 a0002c0024t0005g0055 a0002c0024t0005g0181 a0002c0046t0040g0125 a0008c0051t0003g0196	66	406	0.1626	-47	c.239 others(66): Show c.2392+1138_2392+1184delGCTGCGCAATCACTAACACAAGTCGT TCTCATAAAACACTAGAGCAC	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	19/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41844717	CACACACA others(40): Show CACACACACACACACACACACACACAGAGTCCCTTCCCCCTCACAGGG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01257.hp1 HG01346.hp2 others(10): Show HG00735.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02273.hp1 HG02293.hp2 NA18944.hp2 NA18998.hp2	a0001 a0010 a0001 a0010	a0001c0003 a0010c0029 a0001c0003 a0010c0029	a0001c0003t0001 a0001c0003t0035 a0010c0029t0001 a0001c0003t0001 a0001c0003t0035 a0010c0029t0001	a0001c0003t0001g0076 a0001c0003t0001g0078 a0001c0003t0001g0079 others(10): Show a0001c0003t0001g0076 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0003t0001g0086 a0001c0003t0001g0090 a0001c0003t0001g0093 a0001c0003t0001g0096 a0001c0003t0001g0102 a0001c0003t0035g0075 a0010c0029t0001g0366	13	406	0.0320	-47	c.640 others(64): Show c.640+2326_640+2372delCCCTGTGAGGGGGAAGGGACTCTGTGTG TGTGTGTGTGTGTGTGTGT	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	6/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3287226	AGCCACGC others(40): Show AGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGGCGCCCC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03453.hp2 HG03486.hp2 others(1): Show HG02965.hp1 HG03453.hp2 HG03486.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0007 a0001c0001 a0001c0004 a0002c0007	a0001c0001t0045 a0001c0004t0004 a0001c0004t0007 others(1): Show a0001c0001t0045 a0001c0004t0004 a0001c0004t0007 a0002c0007t0001	a0001c0001t0045g0024 a0001c0004t0004g0051 a0001c0004t0007g0063 others(1): Show a0001c0001t0045g0024 a0001c0004t0004g0051 a0001c0004t0007g0063 a0002c0007t0001g0001	4	210	0.0191	-47	c.438 others(66): Show c.438+43130_438+43176delGCGCCCCGCCACGCGGGCATCCAGGA TTGCATTTACCGGGGCTGGAG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRIMA1_chr14_93713298_93793485	93737431	AGGTGGGA others(40): Show AGGTGGGACCATCATGGGTGACACCAACAGAGGCGTGGGGAGGTCACT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19043.hp2 HG02976.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0001 a0001c0006t0002 a0001c0005t0001 a0001c0006t0002	a0001c0005t0001g0215 a0001c0006t0002g0213 a0001c0005t0001g0215 a0001c0006t0002g0213	2	397	0.0050	-47	c.230 others(61): Show c.230-108_230-62delAGTGACCTCCCCACGCCTCTGTTGGTGTCAC CCATGATGGTCCCACC	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	3/4			chr14	TogoVar
PRKAA1_chr5_40754389_40803374	40800548	GGGGGGGT others(40): Show GGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	402	0.0025	-47	c.-24 others(58): Show c.-2406_-2360delACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGCTGACCCCCC	PRKAA1	ENSG00000132356.12	transcript	ENST00000397128.7	protein_coding		2175		chr5	TogoVar
PRKAG2_chr7_151551127_151882115	151841708	GATGGTAG others(40): Show GATGGTAGTGATGGTAGGTAGTGATGATGGTAGTGATAGTAGGTAGTA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG01243.hp2 others(4): Show HG00735.hp1 HG01109.hp2 HG01243.hp2 HG02055.hp1 HG02615.hp2 HG02630.hp2 HG02895.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0006c0012t0006	a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0002g0040 others(4): Show a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0002g0040 a0001c0001t0015g0240 a0001c0001t0019g0003 a0001c0001t0020g0006 a0006c0012t0006g0149	7	252	0.0278	-47	c.114 others(66): Show c.114+34752_114+34798delTACTACCTACTATCACTACCATCATC ACTACCTACCATCACTACCAT	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151842033	GTGATGGT others(40): Show GTGATGGTAGTGATGGTAGGTAGGGATGGTAGTGATGGTAGGTAGTGA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01516.hp2 HG03491.hp2 others(1): Show HG01168.hp1 HG01516.hp2 HG03491.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0002g0124 others(1): Show a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0002g0124 a0001c0001t0005g0225	4	252	0.0159	-47	c.114 others(66): Show c.114+34427_114+34473delTCACTACCTACCATCACTACCATCCC TACCTACCATCACTACCATCA	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151842156	TGATGGTA others(40): Show TGATGGTAGTGATGGTAGGTAGTGATGATGGTAGCAATGGTAGGTAGG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(72): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01192.hp1 HG01192.hp2 HG01358.hp1 HG01361.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02647.hp2 HG02698.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03942.hp1 HG04199.hp2 NA18948.hp1 NA18954.hp1 NA18955.hp1 NA18983.hp1 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA19002.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0001c0010 a0002c0004 a0003c0005 a0004c0008 a0005c0011 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0027 a0001c0001t0029 a0001c0001t0032 a0001c0002t0007 a0001c0003t0002 a0001c0006t0003 a0001c0009t0031 a0001c0010t0024 a0002c0004t0003 a0003c0005t0001 a0004c0008t0006 a0005c0011t0004 a0007c0013t0001	a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0028 others(72): Show a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0002g0010 a0001c0001t0002g0019 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0048 a0001c0001t0002g0061 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0076 a0001c0001t0002g0114 a0001c0001t0002g0148 a0001c0001t0002g0154 a0001c0001t0002g0164 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0003g0016 a0001c0001t0003g0098 a0001c0001t0003g0180 a0001c0001t0003g0191 a0001c0001t0004g0212 a0001c0001t0004g0234 a0001c0001t0005g0216 a0001c0001t0005g0227 a0001c0001t0005g0228 a0001c0001t0005g0229 a0001c0001t0005g0232 a0001c0001t0005g0236 a0001c0001t0006g0085 a0001c0001t0006g0140 a0001c0001t0006g0147 a0001c0001t0011g0237 a0001c0001t0011g0241 a0001c0001t0012g0243 a0001c0001t0013g0031 a0001c0001t0013g0032 a0001c0001t0014g0119 a0001c0001t0018g0007 a0001c0001t0027g0127 a0001c0001t0029g0217 a0001c0001t0032g0249 a0001c0002t0007g0153 a0001c0003t0002g0165 a0001c0006t0003g0011 a0001c0009t0031g0248 a0001c0010t0024g0162 a0002c0004t0003g0121 a0003c0005t0001g0014 a0004c0008t0006g0206 a0005c0011t0004g0246 a0007c0013t0001g0208	75	252	0.2976	-47	c.114 others(66): Show c.114+34304_114+34350delCCTACCTACCATTGCTACCATCATCA CTACCTACCATCACTACCATC	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCB_chr16_23830983_24225611	23866968	CCCTTCCT others(40): Show CCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0026 a0001c0004t0009g0026	1	148	0.0068	-47	c.205 others(66): Show c.205+29573_205+29619delCTTCCTTCCCTTCCTTCCCTTCCTTC CTTCCTTCCTTCCTTCCTTCC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCE_chr2_45646675_46192990	45744453	CTTTCTTT others(40): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02055.hp2 HG02602.hp2 others(10): Show HG00323.hp2 HG02055.hp2 HG02602.hp2 HG02896.hp2 HG02976.hp2 HG03579.hp2 HG03710.hp1 HG04199.hp1 HG04199.hp2 NA18979.hp2 NA19005.hp2 NA19066.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0017 a0001c0002t0023 a0001c0007t0022	a0001c0001t0001g0141 a0001c0001t0002g0010 a0001c0001t0002g0058 others(10): Show a0001c0001t0001g0141 a0001c0001t0002g0010 a0001c0001t0002g0058 a0001c0001t0002g0111 a0001c0001t0002g0126 a0001c0001t0002g0154 a0001c0001t0003g0015 a0001c0001t0005g0047 a0001c0001t0006g0045 a0001c0002t0001g0105 a0001c0002t0017g0143 a0001c0002t0023g0117 a0001c0007t0022g0032	13	168	0.0774	-47	c.348 others(66): Show c.348+92033_348+92079delCTTTCTTTTTCTTTCTTTCTTTTCTT TCTTTCTTTCTTTCTTTCTTT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCZ_chr1_2045411_2190395	2122302	CGGTGGTA others(40): Show CGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02735.hp1 HG02258.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0159 a0001c0003t0001g0137 a0001c0001t0001g0159 a0001c0003t0001g0137	2	286	0.0070	-47	c.335 others(66): Show c.335-12957_335-12911delTGGTAGGGTCGTGGTGGTTAGGGTCG TGGCGGTGGTTAGGGTCGTGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122305	TGGTAGGG others(40): Show TGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG01891.hp1 others(4): Show HG00140.hp1 HG00738.hp1 HG01891.hp1 HG03654.hp1 NA19011.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003	a0001c0002t0001g0197 a0001c0003t0001g0111 a0001c0003t0001g0259 others(4): Show a0001c0002t0001g0197 a0001c0003t0001g0111 a0001c0003t0001g0259 a0001c0003t0002g0021 a0001c0003t0003g0187 a0001c0003t0003g0188 a0001c0003t0003g0189	7	286	0.0245	-47	c.335 others(66): Show c.335-12953_335-12907delAGGGTCGTGGTGGTTAGGGTCGTGGC GGTGGTTAGGGTCGTGGCGGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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