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
PPFIA3_chr19_49114544_49156026	49155783	G G	GATTGCGG others(37): Show GATTGCGGGGTGTTTCCAGCTGGAATGATACGTGCTGGTGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	362	0.0028	44	c.55 others(55): Show c.5561_*5562insATTGCGGGGTGTTTCCAGCTGGAATGATACGTGC TGGTGAGAGA	PPFIA3	ENSG00000177380.14	transcript	ENST00000334186.9	protein_coding		4758		chr19	TogoVar
PPL_chr16_4877507_4942148	4920345	G G	GAGAGAGA others(37): Show GAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0006 a0013c0019t0006	a0013c0019t0006g0344 a0013c0019t0006g0344	1	372	0.0027	44	c.63- others(59): Show c.63-9397_63-9396insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTCTCT	PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	1/21			chr16	TogoVar
PPL_chr16_4877507_4942148	4920345	G G	GAGAGAGA others(37): Show GAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0063 a0002c0063	a0002c0063t0002 a0002c0063t0002	a0002c0063t0002g0321 a0002c0063t0002g0321	1	372	0.0027	44	c.63- others(59): Show c.63-9397_63-9396insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTCTCTCT	PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	1/21			chr16	TogoVar
PPM1E_chr17_58750854_58990179	58785458	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0251 a0001c0001t0012g0251	1	312	0.0032	44	c.464 others(63): Show c.464+29029_464+29030insTATATATATATATATATATATATATA TATATATATATATATATA	PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PPM1J_chr1_112704998_112720332	112706476	A A	ACACACAC others(37): Show ACACACACACACACACACCACACACACACACACACACCCCCACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	422	0.0024	44	c.36 others(55): Show c.3686_*3687insGTGTGGGGGTGTGTGTGTGTGTGTGTGGTGTGTG TGTGTGTGTG	PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding		3521		chr1	TogoVar
PPM1L_chr3_160751231_161083902	160808383	C C	CTCTGTGT others(37): Show CTCTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGTGTGTG	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18943.hp1 HG03688.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0017 a0001c0001t0007g0020 a0001c0001t0005g0017 a0001c0001t0007g0020	2	206	0.0097	44	c.399 others(63): Show c.399+51677_399+51678insCTGTGTGTGTGTGTGTGTGTGTGTGC GCGCGCGCGCGTGTGTGT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP1R13B_chr14_103728195_103852575	103776186	G G	GAGGGAGG others(37): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0191 a0004c0007t0001g0191	1	332	0.0030	44	c.354 others(61): Show c.354+2558_354+2559insTCCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCT	PPP1R13B	ENSG00000088808.18	transcript	ENST00000202556.14	protein_coding	4/16			chr14	TogoVar
PPP1R37_chr19_45088179_45152285	45089726	C C	CTGGCTGT others(37): Show CTGGCTGTCTAATTCAGTTATAGTGATTCTCTAATGGGTCGCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	342	0.0029	44	c.-36 others(55): Show c.-3600_-3599insTGGCTGTCTAATTCAGTTATAGTGATTCTCTAAT GGGTCGCTAT	PPP1R37	ENSG00000104866.11	transcript	ENST00000221462.9	protein_coding		3452		chr19	TogoVar
PPP1R37_chr19_45088179_45152285	45095386	T T	TTAAGCCT others(37): Show TTAAGCCTTCCAAAGTGCTGGGATTACCGGCATGAGCCACCGTGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03516.hp2 HG03540.hp1 HG02451.hp1 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0215 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0001g0215 a0001c0001t0002g0214 a0001c0001t0002g0216	3	342	0.0088	44	c.202 others(61): Show c.202+1860_202+1903dupTAAGCCTTCCAAAGTGCTGGGATTACCG GCATGAGCCACCGTGC	PPP1R37	ENSG00000104866.11	transcript	ENST00000221462.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP1R3F_chrX_49264793_49293090	49291316	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG03669.hp1 HG03927.hp1 others(2): Show HG00597.hp2 HG03669.hp1 HG03927.hp1 NA19002.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0009 a0001c0001t0001g0107 a0001c0001t0001g0108 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0008g0106	5	288	0.0174	44	c.42 others(55): Show c.4226_*4227insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTGTCTG	PPP1R3F	ENSG00000049769.14	transcript	ENST00000055335.11	protein_coding		3227		chrX	TogoVar
PPP1R8_chr1_27825782_27856676	27855774	T T	TTCAAGCA others(37): Show TTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTACCTGGGATTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0116 a0001c0001t0009g0116	1	340	0.0029	44	c.53 others(55): Show c.5328_*5329insTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAC CTGGGATTAC	PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding		4099		chr1	TogoVar
PPP1R9A_chr7_94902594_95301400	95070593	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATGTATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0019 a0007c0009t0019	a0007c0009t0019g0011 a0007c0009t0019g0011	1	290	0.0035	44	c.139 others(65): Show c.1396-40648_1396-40647insTATATATATATATATATGTATATA TATATATATATATATATATA	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP2R3A_chr3_135960728_136152894	135991440	G G	GTATATAA others(37): Show GTATATAATAAAGAATTTTTTAAAATTAGAAAATGGTAAAAGTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02145.hp1 HG02258.hp2 others(8): Show HG01496.hp2 HG02145.hp1 HG02258.hp2 HG02486.hp2 HG02809.hp2 HG02896.hp1 HG02965.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0007 a0002c0002t0010 others(2): Show a0002c0002t0005 a0002c0002t0007 a0002c0002t0010 a0002c0002t0014 a0002c0002t0015	a0002c0002t0005g0051 a0002c0002t0005g0052 a0002c0002t0005g0054 others(8): Show a0002c0002t0005g0051 a0002c0002t0005g0052 a0002c0002t0005g0054 a0002c0002t0005g0103 a0002c0002t0007g0053 a0002c0002t0007g0101 a0002c0002t0007g0102 a0002c0002t0010g0100 a0002c0002t0010g0104 a0002c0002t0014g0055 a0002c0002t0015g0105	11	238	0.0462	44	c.-44 others(63): Show c.-440-9618_-440-9575dupTATATAATAAAGAATTTTTTAAAATT AGAAAATGGTAAAAGTTT	PPP2R3A	ENSG00000073711.11	transcript	ENST00000264977.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP2R3B_chrX_328933_391907	330898	T T	TCCCCCCC others(37): Show TCCCCCCCGACGGGGGCCTCGTCCCCCCCCGACGGGGCCTCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0008 a0008	a0008c0005 a0008c0005	a0008c0005t0003 a0008c0005t0003	a0008c0005t0003g0006 a0008c0005t0003g0006	1	25	0.0400	44	c.34 others(55): Show c.3468_*3469insGGACGAGGCCCCGTCGGGGGGGGACGAGGCCCCC GTCGGGGGGG	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding		3034		chrX	TogoVar
PPP2R5C_chr14_101756709_101932977	101760937	G G	GGAGGGGC others(37): Show GGAGGGGCTGGCCGAGGGAAGAGGAGGAGAGGGGACGGGCTGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02886.hp2 HG03927.hp2 others(1): Show HG02486.hp1 HG02886.hp2 HG03927.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0020 a0001c0001t0003 a0001c0003t0020	a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 others(1): Show a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0003t0020g0008	4	138	0.0290	44	c.-95 others(53): Show c.-957_-956insGAGGGGCTGGCCGAGGGAAGAGGAGGAGAGGGGACG GGCTGGTC	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding		771		chr14	TogoVar
PPP2R5E_chr14_63366364_63548377	63430389	A A	ACATGCAT others(37): Show ACATGCATACATACATACATACATGCATACATACATACATACATG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0230	1	252	0.0040	44	c.355 others(61): Show c.355-8296_355-8295insCATGTATGTATGTATGTATGCATGTATG TATGTATGTATGCATG	PPP2R5E	ENSG00000154001.14	transcript	ENST00000337537.8	protein_coding	3/13			chr14	TogoVar
PPP3CA_chr4_101018418_101352526	101106453	G G	GAAAGAAA others(37): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAGAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	192	0.0052	44	c.384 others(61): Show c.384+2500_384+2501insTTTCTCTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PPP4R3A_chr14_91452508_91515310	91468667	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0348 a0001c0001t0001g0348	1	370	0.0027	44	c.166 others(63): Show c.1660+2169_1660+2170insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	10/14			chr14	TogoVar
PPP4R4_chr14_94169322_94284734	94174272	T T	TCGCCCCG others(37): Show TCGCCCCGCCTCCTCGCCGGGCCCGCCCCGCCTCCTCGCCGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG02922.hp1 HG06807.hp1 others(2): Show HG00323.hp2 HG02922.hp1 HG06807.hp1 NA19043.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0030 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0080 a0001c0001t0001g0114	5	307	0.0163	44	c.-19 others(53): Show c.-194_-193insCGCCCCGCCTCCTCGCCGGGCCCGCCCCGCCTCCTC GCCGGGCC	PPP4R4	ENSG00000119698.12	transcript	ENST00000304338.8	protein_coding		49		chr14	TogoVar
PPP5C_chr19_46342087_46395975	46389388	C C	CACACACA others(37): Show CACACACAGTTGATCCCTTGCCTGGGGAAGAGTAAGACTCCATCT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0363 a0001c0001t0003g0363	1	394	0.0025	44	c.135 others(61): Show c.1356-656_1356-655insGTTGATCCCTTGCCTGGGGAAGAGTAAG ACTCCATCTACACACA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP5C_chr19_46342087_46395975	46389392	C C	CACACACA others(37): Show CACACACACACACACACACAGTGTTGAGTAAGACTCCATCTCAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0377 a0001c0001t0001g0377	1	394	0.0025	44	c.135 others(61): Show c.1356-640_1356-639insGTGTTGAGTAAGACTCCATCTCAAAACA CACACACACACACACA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPT2_chr6_32149141_32168675	32167060	C C	CTCCGCAG others(37): Show CTCCGCAGCTCTCCGCCTTCCGCCGACCCCCCGTGTCTCGTCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0160 a0002c0002t0001g0160	1	423	0.0024	44	c.41 others(55): Show c.4110_*4111insTCCGCAGCTCTCCGCCTTCCGCCGACCCCCCGTG TCTCGTCCCG	PPT2	ENSG00000221988.13	transcript	ENST00000324816.11	protein_coding		3386		chr6	TogoVar
PRAMEF10_chr1_12887896_12903270	12900231	T T	TCCCCGCC others(37): Show TCCCCGCCGGTTTAGGGAGAGACATGGGTCATATGGATCCCATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0010 a0002c0008t0002g0010	1	377	0.0027	44	c.-20 others(55): Show c.-2042_-2041insCAATGGGATCCATATGACCCATGTCTCTCCCTAA ACCGGCGGGG	PRAMEF10	ENSG00000187545.5	transcript	ENST00000235347.4	protein_coding		1962		chr1	TogoVar
PRDM16_chr1_3064203_3443621	3181448	A A	ACAAGCAG others(37): Show ACAAGCAGTCTTACACACGGTCTTACACACGCGGTCTTACACAAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0062 a0001c0001t0087g0062	1	210	0.0048	44	c.38- others(59): Show c.38-4676_38-4675insAAGCAGTCTTACACACGGTCTTACACACGC GGTCTTACACAAGC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3181565	C C	CAGTCTTA others(37): Show CAGTCTTACACACGGTCTTACACGGTCTTACACAGTCTTACACAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	210	0.0048	44	c.38- others(59): Show c.38-4560_38-4559insAGTCTTACACACGGTCTTACACGGTCTTAC ACAGTCTTACACAT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16			chr1	TogoVar
PRELID2_chr5_145751344_145840342	145817421	T T	TTATATAT others(37): Show TTATATATATATATTTATATATATATATATATATATATATTTATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0129 a0001c0001t0036g0129	1	258	0.0039	44	c.368 others(59): Show c.368+472_368+473insTATAAATATATATATATATATATATATATA AATATATATATATA	PRELID2	ENSG00000186314.12	transcript	ENST00000683046.1	protein_coding	4/6			chr5	TogoVar
PRKAG2_chr7_151551127_151882115	151782339	A A	AGGAAGGA others(37): Show AGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	252	0.0040	44	c.187 others(59): Show c.187-909_187-908insCTCCCTCCCTCCCTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCC	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	2/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151855319	T T	TACACACA others(37): Show TACACACACGCCACCCTCCACACACCACCCTCCACACACACTTTA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	252	0.0040	44	c.114 others(63): Show c.114+21187_114+21188insTAAAGTGTGTGTGGAGGGTGGTGTGT GGAGGGTGGCGTGTGTGT	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCB_chr16_23830983_24225611	23875638	C C	CATACATG others(37): Show CATACATGTATGTATATCACATATATATGTATGTATATCACACAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp2 HG01167.hp1 others(5): Show HG01123.hp1 HG01123.hp2 HG01167.hp1 HG02109.hp2 HG02486.hp1 HG03017.hp1 HG03486.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0009	a0001c0001t0046 a0001c0002t0023 a0001c0004t0002 others(5): Show a0001c0001t0046 a0001c0002t0023 a0001c0004t0002 a0001c0004t0007 a0001c0004t0009 a0001c0005t0003 a0001c0009t0038 a0001c0009t0067	a0001c0001t0046g0029 a0001c0002t0023g0079 a0001c0004t0002g0009 others(5): Show a0001c0001t0046g0029 a0001c0002t0023g0079 a0001c0004t0002g0009 a0001c0004t0007g0041 a0001c0004t0009g0011 a0001c0005t0003g0042 a0001c0009t0038g0056 a0001c0009t0067g0012	8	148	0.0541	44	c.205 others(63): Show c.205+38235_205+38236insCATGTATGTATATCACATATATATGT ATGTATATCACACATATA	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23882017	T T	TCTCTTTC others(37): Show TCTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 homoSapiens_chm13v2.hp1 HG00738.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0003 a0001c0014t0001 a0001c0001t0003 a0001c0014t0001	a0001c0001t0003g0117 a0001c0014t0001g0107 a0001c0001t0003g0117 a0001c0014t0001g0107	2	148	0.0135	44	c.205 others(63): Show c.205+44613_205+44614insCTTTCTTTCTTTCTTTCTCTTTCTTT CTTTCTTTCTTCCTTCCT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23902732	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0049 a0001c0001t0069g0049	1	148	0.0068	44	c.205 others(63): Show c.205+65329_205+65330insCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24021072	C C	CTCCTTTC others(37): Show CTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 NA18991.hp1 HG01168.hp2 HG01169.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0007 a0001c0001t0004 a0001c0003t0007	a0001c0001t0004g0087 a0001c0003t0007g0062 a0001c0003t0007g0063 a0001c0001t0004g0087 a0001c0003t0007g0062 a0001c0003t0007g0063	3	148	0.0203	44	c.289 others(63): Show c.289-11063_289-11062insCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCH_chr14_61316579_61555976	61428112	C C	CACATATA others(37): Show CACATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0196 a0001c0003t0014g0196	1	208	0.0048	44	c.428 others(63): Show c.428-14998_428-14997insCATATATATATATATATATATATATA TATATATATATATATATA	PRKCH	ENSG00000027075.17	transcript	ENST00000332981.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCZ_chr1_2045411_2190395	2121785	G G	GTTATTTA others(37): Show GTTATTTAGGGTCATGGTGGTGGTTAGGGTCGTGGTGGTAGTTAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02698.hp1 NA18956.hp2 others(2): Show HG02293.hp1 HG02698.hp1 NA18956.hp2 NA18961.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0081 others(2): Show a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085	5	286	0.0175	44	c.335 others(63): Show c.335-13474_335-13473insTTTAGGGTCATGGTGGTGGTTAGGGT CGTGGTGGTAGTTATTTA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKG1_chr10_51069487_52303350	52114557	A A	ACTATATA others(37): Show ACTATATATATATACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	64	0.0156	44	c.936 others(63): Show c.936-19283_936-19282insCTATATATATATACATATATATATAT ATATATATATATATATAT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	7/17			chr10	TogoVar
PRKN_chr6_161342417_162732766	161874159	T T	TATATTAT others(37): Show TATATTATATGTAAAATATAATATATAATATATATTATATGTAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0012 a0005c0011t0012	a0005c0011t0012g0009 a0005c0011t0012g0009	1	32	0.0313	44	c.735 others(63): Show c.735-88252_735-88251insTTTACATATAATATATATTATATATT ATATTTTACATATAATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161874264	A A	AAATATAA others(37): Show AAATATAATATATATTATATATAATATATAATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0019 a0002c0002t0004g0019	1	32	0.0313	44	c.735 others(63): Show c.735-88357_735-88356insATATATATTATATATTATATATTATA TATAATATATATTATATT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162011400	A A	AATATATA others(37): Show AATATATAATATATTATATTTTATAATATATATATTATATATTAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	32	0.0313	44	c.619 others(63): Show c.619-37984_619-37983insATAATATATAATATATATATTATAAA ATATAATATATTATATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PRKX_chrX_3599340_3718649	3639324	G G	GATGGATG others(37): Show GATGGATGATTGAATGAAGGGGTGGGGGTGGATGGATGAAGGGGT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18982.hp1 NA18984.hp1 others(1): Show HG02132.hp1 NA18982.hp1 NA18984.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0020 a0002c0003t0121 a0001c0001t0002 a0001c0001t0020 a0002c0003t0121	a0001c0001t0002g0024 a0001c0001t0002g0035 a0001c0001t0020g0155 others(1): Show a0001c0001t0002g0024 a0001c0001t0002g0035 a0001c0001t0020g0155 a0002c0003t0121g0202	4	227	0.0176	44	c.719 others(61): Show c.719+2527_719+2528insACCCCTTCATCCATCCACCCCCACCCCT TCATTCAATCATCCAT	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	364	0.0028	44	c.75+ others(59): Show c.75+4515_75+4516insATATATATATATATATATATATATATATAT ATATATATTTTTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PROSER2_chr10_11818356_11877277	11852777	T T	TTCCCAAA others(37): Show TTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCAGGCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp1 HG01081.hp1 others(37): Show HG00323.hp1 HG00597.hp1 HG01081.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01515.hp2 HG01884.hp2 HG02148.hp2 HG02280.hp1 HG02818.hp2 HG03486.hp1 HG03516.hp2 HG04228.hp1 NA18747.hp2 NA18940.hp1 NA18946.hp2 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18986.hp1 NA18987.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA19002.hp2 NA19010.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19065.hp2 NA19066.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0021t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(37): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0062 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0229 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0343 a0001c0001t0003g0006 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0015g0016 a0001c0001t0015g0029 a0001c0021t0001g0033	40	348	0.1149	44	c.138 others(59): Show c.138+602_138+645dupAGGCCTCCCAAAGTGCTGGGATTATAGGCG TGAGCCACCGCGCC	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PROZ_chr13_113153648_113177386	113162560	A A	ACATCCTC others(37): Show ACATCCTCCTCCTGCTCAGGTCCCCCGTCCCTGCCACCGCCCCAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	378	0.0027	44	c.260 others(59): Show c.260-425_260-424insCGTCCCTGCCACCGCCCCACCATCCTCCTC CTGCTCAGGTCCCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CCCTCCCT others(37): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG03471.hp1 HG03540.hp2 others(2): Show HG01978.hp2 HG03471.hp1 HG03540.hp2 HG04115.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0023 a0001c0001t0001g0046 a0001c0001t0001g0080 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0046 a0001c0001t0001g0080 a0001c0001t0001g0101 a0001c0002t0001g0006	5	227	0.0220	44	c.23 others(55): Show c.2397_*2398insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CCCTCCCT others(37): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG02129.hp1 HG02148.hp2 others(5): Show HG00621.hp2 HG02129.hp1 HG02148.hp2 HG03471.hp2 HG03490.hp1 NA18980.hp2 NA18986.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0016 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0068 a0001c0003t0001g0015	8	227	0.0352	44	c.23 others(55): Show c.2397_*2398insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCTCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PRPF38B_chr1_108687310_108707928	108689608	T T	TAACATTA others(37): Show TAACATTATATATATATATATATATATATATATATATATAATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 NA18522.hp2 HG02055.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0023 a0001c0001t0013g0024 a0001c0001t0013g0023 a0001c0001t0013g0024	2	362	0.0055	44	c.-29 others(55): Show c.-2984_-2983insAACATTATATATATATATATATATATATATATAT ATATAATGTG	PRPF38B	ENSG00000134186.12	transcript	ENST00000370025.9	protein_coding		2701		chr1	TogoVar
PRPF6_chr20_63976132_64038100	64017443	G G	GTGAGCCG others(37): Show GTGAGCCGCCGCGCCCGGCCTCCCAGAGTGCTGGGATCACAGGCA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	294	0.0034	44	c.164 others(61): Show c.1647+607_1647+608insGCGCCCGGCCTCCCAGAGTGCTGGGATC ACAGGCATGAGCCGCC	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRPF6_chr20_63976132_64038100	64017513	A A	AGTGCTGG others(37): Show AGTGCTGGGATCACAGGCGTGAGCCGCCGCGCCCGGCCTCCCACG	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	294	0.0034	44	c.164 others(61): Show c.1647+692_1647+735dupCGCCGCGCCCGGCCTCCCACGGTGCTGG GATCACAGGCGTGAGC	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRR14L_chr22_31676347_31755132	31677604	A A	AAAAAAAA others(37): Show AAAAAAAAAATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0113 a0002c0002t0008g0113	1	316	0.0032	44	c.79 others(55): Show c.7922_*7923insATATATATATATATATATATATATATATATATAT ATTTTTTTTT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding		3742		chr22	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(37): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0088 a0008c0016t0001g0088	1	216	0.0046	44	c.-51 others(61): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131448543	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	216	0.0046	44	c.112 others(61): Show c.1120+766_1120+767insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr9	TogoVar

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Search Results (Total: 4475 hits)