Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
POMT1_chr9_131497918_131528799	131516296	A A	ACACTTCC others(44): Show ACACTTCCTCACACGGAGCACTTCCTCACACGGAGCACCTCCTCACACGG AG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	334	0.0030	51	c.127 others(68): Show c.1272+807_1272+808insGCACCTCCTCACACGGAGCACTTCCTCA CACGGAGCACTTCCTCACACGGA		POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr9	TogoVar
POMT1_chr9_131497918_131528799	131516296	A A	ACACTTCC others(44): Show ACACTTCCTCACATGGAGCACTTCCTCACACGGAACACCTCCTCACACGG AG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0081 a0001c0004t0001g0081	1	334	0.0030	51	c.127 others(68): Show c.1272+786_1272+787insTGGAGCACTTCCTCACACGGAACACCTC CTCACACGGAGCACTTCCTCACA		POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr9	TogoVar
POMT1_chr9_131497918_131528799	131516326	C C	CGGAACAC others(44): Show CGGAACACCTCCTCACACGGAGCACTTCCTCACACGGAGCACTTCCTCAC AT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	334	0.0030	51	c.127 others(68): Show c.1272+851_1272+852insACATGGAACACCTCCTCACACGGAGCAC TTCCTCACACGGAGCACTTCCTC		POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr9	TogoVar
POR_chr7_75910155_75991855	75952094	A A	ACCCCCCC others(44): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0264 a0001c0004t0001g0264	1	278	0.0036	51	c.-13 others(68): Show c.-13-1868_-13-1867insGGCTGGCCGGGCGGGGGGCTGACCCCCC CCCACCTCCCTCCCGGACGGGGC		POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
POR_chr7_75910155_75991855	75952241	A A	ACCCCCCC others(44): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTG AC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0224 a0002c0001t0002g0224	1	278	0.0036	51	c.-13 others(68): Show c.-13-1703_-13-1702insGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGG		POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
POR_chr7_75910155_75991855	75988764	A A	AAGAAGGC others(44): Show AAGAAGGCCGGGTGGGGGGGTGGAGGAGAAGGCCGGGTGGGGGGGGTGGA GG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0133 a0001c0005t0001g0133	1	278	0.0036	51	c.22 others(62): Show c.2283_*2284insAGAAGGCCGGGTGGGGGGGTGGAGGAGAAGGCCG GGTGGGGGGGGTGGAGG		POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding					1910		chr7	TogoVar
POR_chr7_75910155_75991855	75988773	G G	GGGTGGGG others(44): Show GGGTGGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGCTGGAGGGGAAGGC CA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0237 a0001c0007t0001g0237	1	278	0.0036	51	c.22 others(62): Show c.2292_*2293insGGTGGGGGGGGTGGAGGGGAAGGCCGGGTGGGGG GCTGGAGGGGAAGGCCA		POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding					1919		chr7	TogoVar
POR_chr7_75910155_75991855	75988901	T T	TGGGGGGG others(44): Show TGGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCGGG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0232 a0002c0017t0002g0232	1	278	0.0036	51	c.24 others(62): Show c.2420_*2421insGGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGT GGAGGGGAAGGCGGGGA		POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding					2047		chr7	TogoVar
POTEB_chr15_21841329_21882735	21850877	A A	ATATATTA others(44): Show ATATATTAAAGAAAATTATATATATATATATATATATATATATATATATA TG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0048 a0004c0003t0004g0048	1	64	0.0156	51	c.129 others(70): Show c.1299-2556_1299-2555insCATATATATATATATATATATATATA TATATATATAATTTTCTTTAATATA		POTEB	ENSG00000233917.9	transcript	ENST00000439682.2	protein_coding	9/10						chr15	TogoVar
POTEG_chr14_19397486_19439341	19434973	T T	TGCGCGCG others(44): Show TGCGCGCGCGGCATGCACGTGCAAGCCGTTACAAGCCAGCCAAGCCACTG CC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0026 a0026	a0026c0035 a0026c0035	a0026c0035t0011 a0026c0035t0011	a0026c0035t0011g0009 a0026c0035t0011g0009	1	111	0.0090	51	c.-68 others(60): Show c.-685_-684insGGCAGTGGCTTGGCTGGCTTGTAACGGCTTGCACGT GCATGCCGCGCGCGC		POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding					633		chr14	TogoVar
POTEM_chr14_18962434_19008752	18966743	C C	CGCACGCC others(44): Show CGCACGCCGCACGCGCACGCCGCACGCGCACGCCGCACGCGCACGCCGCA CG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0002 a0009c0009t0002	a0009c0009t0002g0032 a0009c0009t0002g0032	1	67	0.0149	51	c.-74 others(60): Show c.-743_-742insGCACGCCGCACGCGCACGCCGCACGCGCACGCCGCA CGCGCACGCCGCACG		POTEM	ENSG00000222036.8	transcript	ENST00000547889.6	protein_coding					690		chr14	TogoVar
POTEM_chr14_18962434_19008752	18966806	A A	ACGCGCGG others(44): Show ACGCGCGGCAGTGGCTTGGCTGGCTTGTAACGGCTTGCACGTGCATGCCG CG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0014 a0008c0010t0014	a0008c0010t0014g0002 a0008c0010t0014g0002	1	67	0.0149	51	c.-68 others(60): Show c.-680_-679insCGCGCGGCAGTGGCTTGGCTGGCTTGTAACGGCTTG CACGTGCATGCCGCG		POTEM	ENSG00000222036.8	transcript	ENST00000547889.6	protein_coding					627		chr14	TogoVar
POTEM_chr14_18962434_19008752	18966819	A A	ACGCGCGG others(44): Show ACGCGCGGCAGTGGCTTGGCTGGCTTGTAACGGCTTGCACGTGCATGCCG CG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 NA19012.hp2 HG03453.hp2 NA19012.hp2	a0009 a0022 a0009 a0022	a0009c0009 a0022c0017 a0009c0009 a0022c0017	a0009c0009t0002 a0022c0017t0037 a0009c0009t0002 a0022c0017t0037	a0009c0009t0002g0033 a0022c0017t0037g0057 a0009c0009t0002g0033 a0022c0017t0037g0057	2	67	0.0299	51	c.-66 others(60): Show c.-667_-666insCGCGCGGCAGTGGCTTGGCTGGCTTGTAACGGCTTG CACGTGCATGCCGCG		POTEM	ENSG00000222036.8	transcript	ENST00000547889.6	protein_coding					614		chr14	TogoVar
POU6F1_chr12_51181936_51223062	51221036	G G	GTTGAATG others(44): Show GTTGAATGTAGAAGTATTTTTTATTGCTGTGTAGTATTCCATTGCATAAT TA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0223 a0001c0001t0004g0223	1	440	0.0023	51	c.-34 others(62): Show c.-3443_-3442insTAATTATGCAATGGAATACTACACAGCAATAAAA AATACTTCTACATTCAA		POU6F1	ENSG00000184271.18	transcript	ENST00000333640.12	protein_coding					2975		chr12	TogoVar
PPEF1_chrX_18702645_18832917	18745088	A A	AATATATA others(44): Show AATATATATTATATATTATATAATTATATTATATATATTATATAATTATA TT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02258.hp1 HG01109.hp1 HG02109.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106	3	224	0.0134	51	c.236 others(68): Show c.236-4684_236-4634dupTAATTATATTATATATATTATATAATTA TATTATATATATTATATATTATA		PPEF1	ENSG00000086717.19	transcript	ENST00000470157.2	protein_coding	3/15					INFO_REALIGN_3_PRIME	chrX	TogoVar
PPEF2_chr4_75854867_75907452	75877039	A A	AAAGAAAG others(44): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA19043.hp1 NA18992.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0071 a0001c0001t0001g0023 a0001c0001t0001g0071	2	270	0.0074	51	c.934 others(66): Show c.934-367_934-366insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTT		PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	10/16						chr4	TogoVar
PPIAL4H_chr1_146339006_146349765	146345034	C C	CTTTCTTT others(44): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	416	0.0024	51	c.-32 others(60): Show c.-320_-319insAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAA		PPIAL4H	ENSG00000270339.4	transcript	ENST00000584068.4	protein_coding					270		chr1	TogoVar
PPL_chr16_4877507_4942148	4920371	G G	GAAAGAAA others(44): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00609.hp2 others(36): Show HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00741.hp1 HG01099.hp1 HG01169.hp1 HG01943.hp1 HG01952.hp1 HG02027.hp1 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02559.hp1 HG02683.hp2 HG03669.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 NA18747.hp1 NA18939.hp2 NA18963.hp2 NA18969.hp2 NA18970.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp2 NA18999.hp1 NA19005.hp1 NA19005.hp2 NA19063.hp1 NA19080.hp1 NA19080.hp2 NA19087.hp2 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0007 a0012 a0014 a0033 a0049	a0001c0001 a0001c0050 a0002c0002 others(10): Show a0001c0001 a0001c0050 a0002c0002 a0003c0003 a0003c0060 a0005c0005 a0005c0038 a0007c0009 a0012c0025 a0012c0046 a0014c0017 a0033c0051 a0049c0039	a0001c0001t0001 a0001c0050t0001 a0002c0002t0002 others(11): Show a0001c0001t0001 a0001c0050t0001 a0002c0002t0002 a0003c0003t0002 a0003c0060t0002 a0005c0005t0002 a0005c0005t0012 a0005c0038t0002 a0007c0009t0002 a0012c0025t0001 a0012c0046t0001 a0014c0017t0001 a0033c0051t0001 a0049c0039t0001	a0001c0001t0001g0128 a0001c0001t0001g0169 a0001c0001t0001g0175 others(36): Show a0001c0001t0001g0128 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0226 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0050t0001g0124 a0002c0002t0002g0015 a0002c0002t0002g0131 a0002c0002t0002g0141 a0002c0002t0002g0157 a0002c0002t0002g0215 a0002c0002t0002g0249 a0002c0002t0002g0266 a0002c0002t0002g0330 a0003c0003t0002g0119 a0003c0060t0002g0158 a0005c0005t0002g0026 a0005c0005t0002g0218 a0005c0005t0012g0159 a0005c0038t0002g0020 a0007c0009t0002g0174 a0012c0025t0001g0043 a0012c0046t0001g0182 a0014c0017t0001g0199 a0033c0051t0001g0221 a0049c0039t0001g0021	39	372	0.1048	51	c.63- others(66): Show c.63-9423_63-9422insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTT		PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	1/21						chr16	TogoVar
PPP2R2D_chr10_131896008_131964834	131901032	G G	GCGGCGGC others(44): Show GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0169 a0001c0001t0109g0169	1	394	0.0025	51	c.-10 others(60): Show c.-103_-102insGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG CCGGCGGCGGCGGCG		PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	1/9				102	INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP4R3A_chr14_91452508_91515310	91507640	A A	AGTATATA others(44): Show AGTATATATACACGGAATATATATATATATATATACACGGAATATATATA GT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG04184.hp1 NA18980.hp1 others(5): Show HG02258.hp2 HG04184.hp1 NA18980.hp1 NA19057.hp2 NA19064.hp2 NA19091.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 others(5): Show a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155	8	370	0.0216	51	c.142 others(68): Show c.142+1865_142+1866insACTATATATATTCCGTGTATATATATAT ATATATATTCCGTGTATATATAC		PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	1/14						chr14	TogoVar
PRAMEF15_chr1_13310581_13327598	13327498	T T	TCTCTCCC others(44): Show TCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCGTCT CC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	302	0.0033	51	c.52 others(62): Show c.5234_*5235insCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGT CTCCCTCTCCCGTCTCC		PRAMEF15	ENSG00000204501.7	transcript	ENST00000376152.2	protein_coding					4901		chr1	TogoVar
PRDX3_chr10_119162720_119183812	119183173	C C	CAGAGGGA others(44): Show CAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGG GG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 NA21309.hp2 HG02965.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0058 a0001c0001t0001g0001 a0001c0001t0003g0058	2	426	0.0047	51	c.-43 others(62): Show c.-4384_-4383insCCCCACGGTCTCCCTCTCCCCACGGTCTCCCTCT CCCCACGGTCTCCCTCT		PRDX3	ENSG00000165672.7	transcript	ENST00000298510.4	protein_coding					4362		chr10	TogoVar
PRIM2_chr6_57312630_57651850	57446418	C C	CTTTTTTT others(44): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	300	0.0033	51	c.694 others(70): Show c.694-60954_694-60953insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTT		PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
PRKAG2_chr7_151551127_151882115	151855349	C C	CACACACA others(44): Show CACACACACTTTACACACACGCCACCCTCCACACACCACCCTACACACAC TT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0005 a0001c0001t0009g0005	1	252	0.0040	51	c.114 others(70): Show c.114+21157_114+21158insAAGTGTGTGTAGGGTGGTGTGTGGAG GGTGGCGTGTGTGTAAAGTGTGTGT		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15						chr7	TogoVar
PRKCA_chr17_66297613_66815743	66799529	A A	ATGGTGAT others(44): Show ATGGTGATGGTGGTGGTGGTGGTGGTGGTAATGGTGGTGGTGATGGTGGT GG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0002 a0001c0002t0004g0002	1	178	0.0056	51	c.185 others(70): Show c.1855-4339_1855-4338insATGGTGGTGGTGGTGGTGGTGGTAAT GGTGGTGGTGATGGTGGTGGTGGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCB_chr16_23830983_24225611	24108963	G G	GGGCTGGC others(44): Show GGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGG GC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0073 a0001c0009t0073	a0001c0009t0073g0031 a0001c0009t0073g0031	1	148	0.0068	51	c.822 others(68): Show c.822-3993_822-3992insGCTGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGG		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCG_chr19_53877197_53912652	53906084	C C	CCTCCTCC others(44): Show CCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0035 a0001c0005t0004g0035	1	362	0.0028	51	c.176 others(68): Show c.1765-231_1765-230insCCTCCTCCTCCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCT		PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906084	C C	CCTCCTCC others(44): Show CCTCCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	362	0.0028	51	c.176 others(68): Show c.1765-231_1765-230insCCTCCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCT		PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906084	C C	CCTCCTTC others(44): Show CCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0237 a0001c0002t0001g0237	1	362	0.0028	51	c.176 others(68): Show c.1765-231_1765-230insCCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCT		PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCZ_chr1_2045411_2190395	2123606	C C	CGGTGGTG others(44): Show CGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTAGTTAGG GT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18945.hp1 NA18961.hp1 others(4): Show HG02132.hp1 NA18945.hp1 NA18961.hp1 NA18983.hp2 NA19030.hp2 NA19064.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0078 a0001c0001t0001g0249 a0001c0001t0001g0269 others(4): Show a0001c0001t0001g0078 a0001c0001t0001g0249 a0001c0001t0001g0269 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0002g0042 a0001c0001t0007g0268	7	286	0.0245	51	c.335 others(70): Show c.335-11655_335-11605dupGGTGGTGGTTAGGGTCACGGCGGTGG TTAGGGTCACGGTGGTAGTTAGGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123660	C C	CGGCTGTA others(44): Show CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTC AT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19087.hp1 NA19066.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0080 a0001c0002t0001g0245 a0001c0001t0001g0080 a0001c0002t0001g0245	2	286	0.0070	51	c.335 others(70): Show c.335-11600_335-11599insCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCGTGGTGGTTAGGTTCATGG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123906	C C	CTGTAGTT others(44): Show CTGTAGTTAGGGTCACGGTGGTGGTTAGGGTCATGGTGGTAGTTAGGGTC GT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp2 HG01069.hp2 HG01070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0213 a0001c0002t0001g0214	2	286	0.0070	51	c.335 others(70): Show c.335-11356_335-11355insTGTAGTTAGGGTCACGGTGGTGGTTA GGGTCATGGTGGTAGTTAGGGTCGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123978	C C	CTGTAGTT others(44): Show CTGTAGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCATG GT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	286	0.0035	51	c.335 others(70): Show c.335-11284_335-11283insTGTAGTTAGGGTCACGGTGGTGGTTA GGGTCGTGGTGGTTAGGGTCATGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PRKG1_chr10_51069487_52303350	51443136	A A	ATAGTTTT others(44): Show ATAGTTTTAAAGGAATACCCTACCATATTCCTTAATGCTGGGGTTGGCAA AG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02896.hp2 HG03195.hp1 others(2): Show HG02886.hp2 HG02896.hp2 HG03195.hp1 HG03225.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0003 a0001c0001t0008 a0001c0002t0003 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0002t0003 a0001c0006t0007	a0001c0001t0003g0029 a0001c0001t0003g0058 a0001c0001t0008g0027 others(2): Show a0001c0001t0003g0029 a0001c0001t0003g0058 a0001c0001t0008g0027 a0001c0002t0003g0034 a0001c0006t0007g0050	5	64	0.0781	51	c.479 others(70): Show c.479-24584_479-24534dupGTTTTAAAGGAATACCCTACCATATT CCTTAATGCTGGGGTTGGCAAAGTA		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKN_chr6_161342417_162732766	162011139	A A	ATATAATA others(44): Show ATATAATATAGTATATATTTTAAAATATATACTATATTATATATAATATA GT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0010 a0001c0001t0008g0010	1	32	0.0313	51	c.619 others(70): Show c.619-37723_619-37722insACTATATTATATATAATATAGTATAT ATTTTAAAATATATACTATATTATA		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11						chr6	TogoVar
PRPF8_chr17_1645629_1689867	1689864	C C	CGGCTGGC others(44): Show CGGCTGGCCTGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGG GT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01175.hp1 HG01243.hp2 others(47): Show HG01109.hp1 HG01175.hp1 HG01243.hp2 HG01346.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18951.hp1 NA18955.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0007 others(4): Show a0001c0002 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0012 a0001c0014	a0001c0002t0001 a0001c0002t0004 a0001c0006t0001 others(5): Show a0001c0002t0001 a0001c0002t0004 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0010t0001 a0001c0012t0001 a0001c0014t0001	a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0001g0016 others(43): Show a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0034 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0115 a0001c0002t0001g0119 a0001c0002t0001g0124 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0132 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0229 a0001c0002t0004g0134 a0001c0006t0001g0231 a0001c0006t0001g0232 a0001c0006t0001g0233 a0001c0007t0001g0106 a0001c0007t0001g0107 a0001c0007t0001g0108 a0001c0008t0001g0035 a0001c0008t0001g0036 a0001c0010t0001g0116 a0001c0010t0001g0142 a0001c0012t0001g0100 a0001c0014t0001g0120	50	291	0.1718	51	c.-50 others(62): Show c.-5097_-5096insACCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGC CCCCCGCCAGGCCAGCC		PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding					4998		chr17	TogoVar
PRR35_chr16_555394_570529	565736	A A	AGGAGAGC others(44): Show AGGAGAGCCGTGTGGACTGGCTGCTCGGCCTGTGTCTTGGTGTGTCGGGG GT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0007 a0012c0018t0007	a0012c0018t0007g0049 a0012c0018t0007g0049	1	424	0.0024	51	c.42 others(60): Show c.429_*430insGGAGAGCCGTGTGGACTGGCTGCTCGGCCTGTGTCT TGGTGTGTCGGGGGT		PRR35	ENSG00000161992.6	transcript	ENST00000409413.4	protein_coding					208		chr16	TogoVar
PRR35_chr16_555394_570529	565743	C C	CCGTGTGG others(44): Show CCGTGTGGACTGGCTGCTCGGCCTGTGTCTTGGTGTGTCGGGGGTGGAGA GG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0005 a0008c0010t0005	a0008c0010t0005g0001 a0008c0010t0005g0001	1	424	0.0024	51	c.43 others(60): Show c.436_*437insCGTGTGGACTGGCTGCTCGGCCTGTGTCTTGGTGTG TCGGGGGTGGAGAGG		PRR35	ENSG00000161992.6	transcript	ENST00000409413.4	protein_coding					215		chr16	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(44): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0089 a0008c0016t0001g0089	1	216	0.0046	51	c.-51 others(68): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTTTT		PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr9	TogoVar
PRSS37_chr7_141831300_141846485	141838056	C C	CTGGGGCG others(44): Show CTGGGGCGCTATGACTGTAGTTCCAGTAGCGGACGATCTGAATGGGGTTA AT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19000.hp2 NA19000.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0032 a0003c0004t0001g0032	1	408	0.0025	51	c.233 others(58): Show c.233_234insATTAACCCCATTCAGATCGTCCGCTACTGGAACTACAG TCATAGCGCCCCA	p.Gln others(62): Show p.Gln78_Thr79insLeuThrProPheArgSerSerAlaThrGlyThrT hrValIleAlaProGln	PRSS37	ENSG00000165076.14	transcript	ENST00000350549.8	protein_coding	3/5	669/1239	233/708	78/235			chr7	TogoVar
PSAP_chr10_71811298_71856251	71855736	C C	CTGAGTAG others(44): Show CTGAGTAGCTGGAATTACAGGTGTGAGCCACCATGCCTGGCTAATTTTTT TG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	430	0.0023	51	c.-45 others(62): Show c.-4516_-4515insCAAAAAAATTAGCCAGGCATGGTGGCTCACACCT GTAATTCCAGCTACTCA		PSAP	ENSG00000197746.15	transcript	ENST00000394936.8	protein_coding					4486		chr10	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0189 a0001c0002t0003g0189	1	416	0.0024	51	c.870 others(68): Show c.870-1095_870-1094insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTTTTT		PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATAT others(44): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	416	0.0024	51	c.870 others(68): Show c.870-1095_870-1094insATATATATATATATATTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTT		PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
PSG11_chr19_43002656_43031469	43028344	T T	TGTGTGGC others(44): Show TGTGTGGCTCTACGTTCACTGTTCTCCCTCTTTCACAATCAGATATTCCA GC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	400	0.0025	51	c.-19 others(62): Show c.-1973_-1972insGCTGGAATATCTGATTGTGAAAGAGGGAGAACAG TGAACGTAGAGCCACAC		PSG11	ENSG00000243130.8	transcript	ENST00000320078.12	protein_coding					1876		chr19	TogoVar
PSMD13_chr11_231976_257984	245807	C C	CTGAAAAG others(44): Show CTGAAAAGATACTTTTTATTGTTTATTGTCAGTCCTAACCCATATGCATA CT	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	450	0.0022	51	c.396 others(68): Show c.396+1048_396+1098dupGAAAAGATACTTTTTATTGTTTATTGTC AGTCCTAACCCATATGCATACTT		PSMD13	ENSG00000185627.19	transcript	ENST00000532097.6	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PSME4_chr2_53859069_53975993	53940954	T T	TATTTAAA others(44): Show TATTTAAATATATATATAATACATATATAAATATATATATATACATATTT AA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	384	0.0026	51	c.501 others(66): Show c.501-955_501-954insTTAAATATGTATATATATATATTTATATAT GTATTATATATATATTTAAAT		PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	3/46						chr2	TogoVar
PSPC1_chr13_19697500_19787945	19779555	T T	TGGGGGGG others(44): Show TGGGGGGGGTCAGCCCCCCGCATGGCCAGCCGCCCCGTCCGGGAGGGAGG TG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03831.hp2 HG02738.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0246 a0001c0001t0003g0029 a0001c0001t0001g0246 a0001c0001t0003g0029	2	258	0.0078	51	c.372 others(68): Show c.372+2830_372+2831insCACCTCCCTCCCGGACGGGGCGGCTGGC CATGCGGGGGGCTGACCCCCCCC		PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8						chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779555	T T	TGGGGGGG others(44): Show TGGGGGGGTCAGCCCCCCGCATGGCCAGCCGCCCCCGTCCGGGAGGGAGG TG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	258	0.0039	51	c.372 others(68): Show c.372+2830_372+2831insCACCTCCCTCCCGGACGGGGGCGGCTGG CCATGCGGGGGGCTGACCCCCCC		PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8						chr13	TogoVar
PTGES3L_chr17_42963103_42985080	42967307	T T	TAATATGT others(44): Show TAATATGTATCATATATAATTTATATATTATATATTTTAAATATATAATT TA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	336	0.0030	51	c.18 others(62): Show c.1840_*1841insTAAATTATATATTTAAAATATATAATATATAAAT TATATATGATACATATT		PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding					795		chr17	TogoVar
PTP4A3_chr8_141387021_141437454	141430166	A A	ACACAGTC others(44): Show ACACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAG CG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	323	0.0031	51	c.405 others(66): Show c.405-758_405-708dupCAGTCCGGGTCCCCGCTGTAAGGACCAGGT GGCGGGGACAGGGTGAGCGCA		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr8	TogoVar

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