Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PRPF4_chr9_113270658_113297905	113285343	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01123.hp1 HG02055.hp1 others(3): Show HG01109.hp2 HG01123.hp1 HG02055.hp1 HG02970.hp1 HG03139.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0015 a0001c0001t0001g0078 a0001c0002t0005g0247 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0078 a0001c0002t0005g0247 a0001c0002t0005g0254	6	8	0.7500	-33	c.750 others(48): Show c.750-868_750-836delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PRPF4	ENSG00000136875.13	transcript	ENST00000374198.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRR12_chr19_49586182_49631439	49624229	GTAGGTGG others(26): Show GTAGGTGGTTAGGATGGGGCCGAGCATTCAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02698.hp2 HG02683.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0268 a0001c0001t0001g0263 a0001c0001t0001g0268	2	320	0.0063	-33	c.572 others(50): Show c.5722-595_5722-563delCGAGCATTCAGGGATAGGTGGTTAGGAT GGGGC	PRR12	ENSG00000126464.15	transcript	ENST00000418929.7	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRR12_chr19_49586182_49631439	49624279	GGCTGAGA others(26): Show GGCTGAGAATTCTGGGGTAGGTGGTTAGGATGGT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp1 HG02922.hp1 HG02622.hp1 HG02717.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135	3	320	0.0094	-33	c.572 others(50): Show c.5722-516_5722-484delGTAGGTGGTTAGGATGGTGCTGAGAATT CTGGG	PRR12	ENSG00000126464.15	transcript	ENST00000418929.7	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRR12_chr19_49586182_49631439	49624328	GTAGGTGG others(26): Show GTAGGTGGTTAGGATGGTGCTGAGAATTCTGGGA	G G	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	317	0.0032	-33	c.572 others(50): Show c.5722-499_5722-467delTGCTGAGAATTCTGGGATAGGTGGTTAG GATGG	PRR12	ENSG00000126464.15	transcript	ENST00000418929.7	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRR12_chr19_49586182_49631439	49624497	GTGGTTAG others(26): Show GTGGTTAGGATGGGGCTGAGAATTCTGGGATAGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02896.hp1 HG03130.hp2 HG02145.hp2 HG02896.hp1 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0002g0143 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0002g0143	3	320	0.0094	-33	c.572 others(50): Show c.5722-329_5722-297delAGAATTCTGGGATAGATGGTTAGGATGG GGCTG	PRR12	ENSG00000126464.15	transcript	ENST00000418929.7	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRR12_chr19_49586182_49631439	49624559	ATAGATGG others(26): Show ATAGATGGTTAGGATGGGGCTGGGAATTCTGGGG	A A	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0001 a0001c0049t0001	a0001c0049t0001g0271 a0001c0049t0001g0271	1	320	0.0031	-33	c.572 others(50): Show c.5722-247_5722-215delTGGTTAGGATGGGGCTGGGAATTCTGGG GTAGA	PRR12	ENSG00000126464.15	transcript	ENST00000418929.7	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRR30_chr2_27131848_27144410	27141791	ACAACGAT others(26): Show ACAACGATTTTGAAAAAGTGGCCAGGCGCAGTGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	384	0.0026	-33	c.-29 others(44): Show c.-2940_-2908delCCACTGCGCCTGGCCACTTTTTCAAAATCGTTG	PRR30	ENSG00000186143.11	transcript	ENST00000335524.7	protein_coding		2382		chr2	TogoVar
PRRG3_chrX_151690458_151710924	151703883	TTTTTTTT others(26): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 NA18962.hp1 HG00741.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0085 a0001c0001t0003 a0001c0001t0085	a0001c0001t0003g0001 a0001c0001t0085g0005 a0001c0001t0003g0001 a0001c0001t0085g0005	2	333	0.0060	-33	c.28 others(44): Show c.2852_*2884delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGT	PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4	2852	INFO_REALIGN_3_PRIME	chrX	TogoVar
PRRG3_chrX_151690458_151710924	151703885	TTTTTTTT others(26): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02698.hp1 NA18981.hp2 HG02698.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0001 a0001c0001t0003g0008	2	334	0.0060	-33	c.28 others(44): Show c.2854_*2886delTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGTGT	PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4	2854	INFO_REALIGN_3_PRIME	chrX	TogoVar
PRRG3_chrX_151690458_151710924	151703887	TTTTTTTT others(26): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTGTGTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	326	0.0031	-33	c.28 others(44): Show c.2856_*2888delTTTTTTTTTTTTTTTTTTTTTTTTTGTGTGTGT	PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4	2856	INFO_REALIGN_3_PRIME	chrX	TogoVar
PRRG3_chrX_151690458_151710924	151703891	TTTTTTTT others(26): Show TTTTTTTTTTTTTTTTTTTTTTTGTGTGTGTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0034 a0006c0008t0034	a0006c0008t0034g0057 a0006c0008t0034g0057	1	334	0.0030	-33	c.28 others(44): Show c.2860_*2892delTTTTTTTTTTTTTTTTTTTTTGTGTGTGTGTGT	PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4	2860	INFO_REALIGN_3_PRIME	chrX	TogoVar
PRSS12_chr4_118275038_118358003	118299732	AAAATAAA others(26): Show AAAATAAAATAAAATAAATAAAATAAATAAAATT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp2 HG01361.hp1 others(5): Show HG00738.hp1 HG01175.hp2 HG01361.hp1 HG02145.hp1 HG02559.hp2 HG03139.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0001 a0002c0002t0001 a0001c0004t0001 a0002c0002t0001	a0001c0004t0001g0198 a0002c0002t0001g0057 a0002c0002t0001g0058 others(5): Show a0001c0004t0001g0198 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0069	8	362	0.0221	-33	c.163 others(50): Show c.1632-827_1632-795delAATTTTATTTATTTTATTTATTTTATTT TATTT	PRSS12	ENSG00000164099.3	transcript	ENST00000296498.3	protein_coding	8/12			chr4	TogoVar
PRSS57_chr19_680546_700452	694177	CCAGGACC others(26): Show CCAGGACCAACCTATCCCGTGCCTGGTGGGGGCT	C C	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	438	0.0023	-33	c.233 others(48): Show c.233+604_233+636delAGCCCCCACCAGGCACGGGATAGGTTGGTC CTG	PRSS57	ENSG00000185198.12	transcript	ENST00000329267.9	protein_coding	2/4			chr19	TogoVar
PRXL2B_chr1_2581777_2596468	2585315	ATAGAGGG others(26): Show ATAGAGGGGCCCCCTCCTGCACAGCCCGAGACAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	412	0.0024	-33	c.-15 others(44): Show c.-1570_-1538delTAGAGGGGCCCCCTCCTGCACAGCCCGAGACAG	PRXL2B	ENSG00000157870.17	transcript	ENST00000419916.8	protein_coding		1461		chr1	TogoVar
PRX_chr19_40388768_40418378	40399880	TTTCTTTC others(26): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02647.hp1 HG02809.hp2 others(4): Show HG02145.hp1 HG02647.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0037 a0003c0003t0001g0038 a0003c0003t0001g0039 others(4): Show a0003c0003t0001g0037 a0003c0003t0001g0038 a0003c0003t0001g0039 a0003c0003t0001g0040 a0003c0003t0001g0041 a0003c0003t0001g0042 a0003c0003t0001g0043	7	304	0.0230	-33	c.185 others(50): Show c.185-1097_185-1065delGAAAGAAAAAGAAAGAAAGAAAGAAAGA AAGAA	PRX	ENSG00000105227.16	transcript	ENST00000324001.8	protein_coding	5/6			chr19	TogoVar
PRX_chr19_40388768_40418378	40417787	CAGATTCT others(26): Show CAGATTCTCCACCCCTGGGATCCTGGGCTCCTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	304	0.0033	-33	c.-47 others(44): Show c.-4725_-4693delCCAGGAGCCCAGGATCCCAGGGGTGGAGAATCT	PRX	ENSG00000105227.16	transcript	ENST00000324001.8	protein_coding		4410		chr19	TogoVar
PSD3_chr8_18522303_19018703	18752504	ATATATAA others(26): Show ATATATAATATATGTAATATATATAATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02559.hp1 HG01884.hp1 HG01891.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0019 a0001c0002t0019 a0001c0001t0003 a0001c0001t0019 a0001c0002t0019	a0001c0001t0003g0150 a0001c0001t0019g0186 a0001c0002t0019g0183 a0001c0001t0003g0150 a0001c0001t0019g0186 a0001c0002t0019g0183	3	224	0.0134	-33	c.217 others(54): Show c.2172+12912_2172+12944delATATATAATTATATATATTACATA TATTATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSG4_chr19_43187702_43210638	43189039	AGCCATTC others(26): Show AGCCATTCGCTTACAGGTCTCTTCTCTCCTCCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	298	0.0034	-33	c.43 others(44): Show c.4300_*4332delAGGGAGGAGAGAAGAGACCTGTAAGCGAATGGC	PSG4	ENSG00000243137.8	transcript	ENST00000405312.8	protein_coding		3662		chr19	TogoVar
PSG5_chr19_43162743_43191536	43189039	AGCCATTC others(26): Show AGCCATTCGCTTACAGGTCTCTTCTCTCCTCCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0089 a0003c0003t0003g0089	1	428	0.0023	-33	c.-26 others(44): Show c.-2667_-2635delAGGGAGGAGAGAAGAGACCTGTAAGCGAATGGC	PSG5	ENSG00000204941.14	transcript	ENST00000342951.11	protein_coding		2504		chr19	TogoVar
PSG9_chr19_43248282_43274530	43267634	TGTGTGTG others(26): Show TGTGTGTGTCCTGCACTAAATGCCCAAACCCCAG	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	210	0.0048	-33	c.430 others(48): Show c.430+117_430+149delCTGGGGTTTGGGCATTTAGTGCAGGACACA CAC	PSG9	ENSG00000183668.18	transcript	ENST00000270077.8	protein_coding	2/5			chr19	TogoVar
PSKH2_chr8_86042109_86074668	86049717	AGAAAGAA others(26): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0002 a0007c0010t0002	a0007c0010t0002g0191 a0007c0010t0002g0191	1	418	0.0024	-33	c.853 others(48): Show c.853-983_853-951delGTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	PSKH2	ENSG00000147613.8	transcript	ENST00000276616.3	protein_coding	2/2			chr8	TogoVar
PSORS1C1_chr6_31109800_31145092	31111540	CCCCCAGC others(26): Show CCCCCAGCTGCCTCCTGGATACCGATTAATATTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01243.hp1 HG02451.hp1 others(11): Show HG01074.hp1 HG01243.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02738.hp1 HG03195.hp1 HG03209.hp2 HG03486.hp2 HG03579.hp1 NA18522.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0035 a0001c0001t0001g0076 a0001c0001t0001g0077 others(5): Show a0001c0001t0001g0035 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0002c0002t0001g0009 a0002c0002t0001g0079 a0002c0002t0001g0080	14	448	0.0313	-33	c.-35 others(44): Show c.-3579_-3547delCCCCAGCTGCCTCCTGGATACCGATTAATATTT	PSORS1C1	ENSG00000204540.11	transcript	ENST00000259881.10	protein_coding		3259		chr6	TogoVar
PTGDS_chr9_136972504_136986742	136978681	CGTGAGGG others(26): Show CGTGAGGGGCGTGGTCAGCTCCTGGGGCGGGGAT	C C	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18979.hp2 NA19082.hp2 NA18975.hp1 NA18979.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0005	3	380	0.0079	-33	c.115 others(48): Show c.115-301_115-269delTGGTCAGCTCCTGGGGCGGGGATGTGAGGG GCG	PTGDS	ENSG00000107317.13	transcript	ENST00000371625.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
PTGDS_chr9_136972504_136986742	136978692	TGGTCAGC others(26): Show TGGTCAGCTCCTGGGGCGGGGATGTGAGGGGCGG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02717.hp2 HG02109.hp2 HG02258.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0055 a0001c0001t0001g0026 a0001c0001t0001g0055	3	380	0.0079	-33	c.115 others(48): Show c.115-295_115-263delGCTCCTGGGGCGGGGATGTGAGGGGCGGGG TCA	PTGDS	ENSG00000107317.13	transcript	ENST00000371625.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
PTH1R_chr3_46872721_46908799	46898866	CCCTCTGC others(26): Show CCCTCTGCCCGCCCGCTCCCGGTGCCGCCACTGG	C C	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	354	0.0028	-33	c.834 others(46): Show c.834+14_834+46delTGCCCGCCCGCTCCCGGTGCCGCCACTGGCCT C	PTH1R	ENSG00000160801.14	transcript	ENST00000449590.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTK2B_chr8_27320552_27464386	27350989	AAATATAT others(26): Show AAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18995.hp2 NA19009.hp1 NA18968.hp1 NA18995.hp2 NA19009.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0009c0029 a0001c0002 a0009c0029	a0001c0002t0001 a0009c0029t0001 a0001c0002t0001 a0009c0029t0001	a0001c0002t0001g0005 a0001c0002t0001g0129 a0009c0029t0001g0153 a0001c0002t0001g0005 a0001c0002t0001g0129 a0009c0029t0001g0153	3	304	0.0099	-33	c.-38 others(52): Show c.-38+25310_-38+25342delATATATATATATATATATATATATAT ATATATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK7_chr6_43071314_43166715	43157343	TATATATA others(26): Show TATATATATATATATATATATATTTTTTTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18943.hp1 HG01261.hp2 NA18943.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0070 a0002c0003t0002g0121 a0002c0003t0002g0070 a0002c0003t0002g0121	2	244	0.0082	-33	c.272 others(52): Show c.2722-1473_2722-1441delATATATATATATATATATATATTTTT TTTTTTC	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19			chr6	TogoVar
PTK7_chr6_43071314_43166715	43157344	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTCT	A A	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0103 a0001c0002t0002g0103	1	270	0.0037	-33	c.272 others(52): Show c.2722-1471_2722-1439delATATATATATATATATATATTTTTTT TTTTCTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTP4A2_chr1_31901421_31943368	31908135	TTATATTA others(26): Show TTATATTATATATATATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp1 HG01978.hp2 HG02258.hp2 others(4): Show HG00558.hp1 HG01978.hp2 HG02258.hp2 NA18951.hp2 NA18990.hp1 NA18994.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0201 a0001c0001t0001g0294 others(4): Show a0001c0001t0001g0156 a0001c0001t0001g0201 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0306	7	262	0.0267	-33	c.68 others(42): Show c.684_*716delTATATATATATATATATATATATATATAATATA	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6	684		chr1	TogoVar
PTPRA_chr20_2868481_3043669	2909782	TATAATAT others(26): Show TATAATATATATTAGATAATATATATAATATAAG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02602.hp1 NA18952.hp2 others(7): Show HG01123.hp1 HG02602.hp1 NA18952.hp2 NA18953.hp2 NA18980.hp1 NA18985.hp1 NA18995.hp1 NA19060.hp2 NA19078.hp2 NA21309.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0002 a0001c0006t0001g0209 a0001c0006t0001g0210 others(7): Show a0001c0006t0001g0002 a0001c0006t0001g0209 a0001c0006t0001g0210 a0001c0006t0001g0211 a0001c0006t0001g0212 a0001c0006t0001g0213 a0001c0006t0001g0214 a0001c0006t0001g0215 a0001c0006t0001g0216 a0001c0006t0001g0272	10	354	0.0282	-33	c.-12 others(54): Show c.-128-13378_-128-13346delGATAATATATATAATATAAGATAA TATATATTA	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPRD_chr9_8309246_10618002	8726583	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0020 a0005c0016t0020	a0005c0016t0020g0011 a0005c0016t0020g0011	1	34	0.0294	-33	c.64+ others(48): Show c.64+7164_64+7196delATATATATATATATATATATATATATATTT TTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	12/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	8726589	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0016 a0001c0012t0016	a0001c0012t0016g0028 a0001c0012t0016g0028	1	23	0.0435	-33	c.64+ others(48): Show c.64+7158_64+7190delATATATATATATATATATATATATATATAT ATA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	12/45			chr9	TogoVar
PTPRM_chr18_7562316_8411856	8054305	ATATATAT others(26): Show ATATATATATATATATATTACTACTACTAGTGGT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0080 a0001c0008t0001g0080	1	80	0.0125	-33	c.113 others(54): Show c.1133-15380_1133-15348delTATATATATATATATATTACTACT ACTAGTGGT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32			chr18	TogoVar
PTPRR_chr12_70633079_70925738	70796170	TGCCTTGG others(26): Show TGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGC	T T	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	202	0.0050	-33	c.358 others(52): Show c.358-31425_358-31393delGCCTATAATCCCAGCACTTTGGGAGG CCAAGGC	PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	2/13			chr12	TogoVar
PTPRT_chr20_42067756_43194906	42508940	AATATAAT others(26): Show AATATAATTTATATTTAATTTATAGATATAAATT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0024 a0002c0004t0024	a0002c0004t0024g0006 a0002c0004t0024g0006	1	41	0.0244	-33	c.115 others(54): Show c.1154-36411_1154-36379delAATTTATATCTATAAATTAAATAT AAATTATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42509039	TATATAAT others(26): Show TATATAATTTATATTTAATTTATAGATATAAATC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01496.hp2 HG02280.hp1 others(1): Show HG01243.hp2 HG01496.hp2 HG02280.hp1 NA18906.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0001c0007 a0002c0004 others(1): Show a0001c0003 a0001c0007 a0002c0004 a0004c0006	a0001c0003t0002 a0001c0007t0001 a0002c0004t0004 others(1): Show a0001c0003t0002 a0001c0007t0001 a0002c0004t0004 a0004c0006t0009	a0001c0003t0002g0043 a0001c0007t0001g0061 a0002c0004t0004g0026 others(1): Show a0001c0003t0002g0043 a0001c0007t0001g0061 a0002c0004t0004g0026 a0004c0006t0009g0051	4	61	0.0656	-33	c.115 others(54): Show c.1154-36510_1154-36478delGATTTATATCTATAAATTAAATAT AAATTATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42509072	CATATAAT others(26): Show CATATAATTTATATTTAATTTATAGATATAAATT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02897.hp2 HG01109.hp1 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0026 a0002c0004 a0001c0026 a0002c0004	a0001c0026t0007 a0002c0004t0024 a0001c0026t0007 a0002c0004t0024	a0001c0026t0007g0059 a0002c0004t0024g0006 a0001c0026t0007g0059 a0002c0004t0024g0006	2	36	0.0556	-33	c.115 others(54): Show c.1154-36543_1154-36511delAATTTATATCTATAAATTAAATAT AAATTATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRU_chr1_29231522_29331800	29291363	GGAAGGAG others(26): Show GGAAGGAGGGGTGTAGTCCCTCCTTCCTGCAGGA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0202 a0001c0037t0001g0202	1	294	0.0034	-33	c.231 others(50): Show c.2319-497_2319-465delGGTGTAGTCCCTCCTTCCTGCAGGAGAA GGAGG	PTPRU	ENSG00000060656.20	transcript	ENST00000373779.8	protein_coding	14/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTPRZ1_chr7_121868161_122067036	122023531	ATATAATT others(26): Show ATATAATTTTATATATAATTATATATATTATATG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG04115.hp1 NA18966.hp2 HG03710.hp1 HG04115.hp1 NA18966.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0065 a0002c0002t0001g0085 a0002c0002t0001g0274 a0001c0001t0001g0065 a0002c0002t0001g0085 a0002c0002t0001g0274	3	309	0.0097	-33	c.498 others(52): Show c.4988+4382_4988+4414delATATATATTATATGTATAATTTTATA TATAATT	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	13/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTRH1_chr9_127708807_127720663	127719291	ATGTCCTG others(26): Show ATGTCCTGCACTGCCACTTCCTGTGTACCCTTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	346	0.0029	-33	c.-36 others(44): Show c.-3685_-3653delACAAGGGTACACAGGAAGTGGCAGTGCAGGACA	PTRH1	ENSG00000187024.15	transcript	ENST00000543175.5	protein_coding		3629		chr9	TogoVar
PUM1_chr1_30926506_31070717	30972260	AAAGAAAA others(26): Show AAAGAAAAGAAGGGAAGGGAAGGGAAGGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01168.hp1 HG01346.hp1 others(2): Show HG00642.hp2 HG01168.hp1 HG01346.hp1 HG02074.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0232 a0001c0002t0003g0234 a0001c0002t0003g0273 others(2): Show a0001c0002t0003g0232 a0001c0002t0003g0234 a0001c0002t0003g0273 a0001c0002t0003g0290 a0001c0002t0003g0292	5	270	0.0185	-33	c.150 others(52): Show c.1506+2358_1506+2390delCCCTCCCCTTCCCTTCCCTTCCCTTC TTTTCTT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PVR_chr19_44638910_44671162	44668316	TTATATTT others(26): Show TTATATTTATATAATATGTTTATAATATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01358.hp2 HG01361.hp2 others(36): Show HG01109.hp2 HG01358.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02145.hp2 HG02257.hp1 HG02602.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03654.hp1 HG03831.hp1 NA18949.hp1 NA18951.hp2 NA18973.hp2 NA18980.hp1 NA19005.hp1 NA19030.hp1 NA19054.hp1 NA19060.hp2 NA19079.hp1 NA19240.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0006c0007 a0006c0012	a0001c0001t0002 a0001c0001t0005 a0001c0001t0040 others(22): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0040 a0001c0001t0048 a0001c0001t0077 a0001c0001t0092 a0001c0001t0094 a0001c0001t0101 a0001c0001t0102 a0001c0001t0120 a0001c0004t0025 a0001c0004t0051 a0002c0002t0006 a0002c0002t0016 a0002c0002t0035 a0002c0002t0083 a0003c0003t0007 a0003c0003t0047 a0003c0003t0104 a0003c0003t0117 a0003c0003t0118 a0003c0003t0119 a0006c0007t0029 a0006c0007t0056 a0006c0012t0029	a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0005g0044 others(31): Show a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0005g0044 a0001c0001t0005g0140 a0001c0001t0040g0119 a0001c0001t0048g0126 a0001c0001t0077g0137 a0001c0001t0092g0023 a0001c0001t0094g0023 a0001c0001t0101g0006 a0001c0001t0102g0006 a0001c0001t0120g0116 a0001c0004t0025g0027 a0001c0004t0025g0129 a0001c0004t0051g0127 a0002c0002t0006g0004 a0002c0002t0006g0008 a0002c0002t0006g0041 a0002c0002t0006g0100 a0002c0002t0016g0008 a0002c0002t0016g0041 a0002c0002t0016g0110 a0002c0002t0016g0112 a0002c0002t0035g0004 a0002c0002t0083g0099 a0003c0003t0007g0017 a0003c0003t0047g0021 a0003c0003t0104g0017 a0003c0003t0117g0090 a0003c0003t0118g0092 a0003c0003t0119g0021 a0006c0007t0029g0125 a0006c0007t0056g0042 a0006c0012t0029g0042	39	404	0.0965	-33	c.65 others(44): Show c.6506_*6538delTATATTTATATAATATGTTTATAATATATATAA	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		2155		chr19	TogoVar
PXDN_chr2_1626887_1749515	1630720	TTAGCCAT others(26): Show TTAGCCATAAAGTATTTTTAAATTAAGGTATGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	320	0.0031	-33	c.34 others(44): Show c.3451_*3483delTACATACCTTAATTTAAAAATACTTTATGGCTA	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding		1166		chr2	TogoVar
PXDN_chr2_1626887_1749515	1732424	GGGGCCAG others(26): Show GGGGCCAGAAGGATCACAGGGTCACACACACACT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0144 a0001c0002t0003g0144	1	320	0.0031	-33	c.200 others(52): Show c.200+11799_200+11831delAGTGTGTGTGTGACCCTGTGATCCTT CTGGCCC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1743687	AGGAGGAG others(26): Show AGGAGGAGGAGGAAGGGGAGGAGGAGGAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0319 a0001c0001t0022g0319	1	320	0.0031	-33	c.200 others(48): Show c.200+536_200+568delCCTTCCTCCTCCTCCTCCCCTTCCTCCTCC TCC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXMP4_chr20_33697758_33725310	33711079	GAGGGTGG others(26): Show GAGGGTGGTGTCTGGATCTGGCTTGTTCATCTGC	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0099 a0001c0001t0043g0099	1	386	0.0026	-33	c.177 others(48): Show c.177-359_177-327delGCAGATGAACAAGCCAGATCCAGACACCAC CCT	PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding	2/3			chr20	TogoVar
PZP_chr12_9143840_9213395	9197663	TATTATAT others(26): Show TATTATATATATTATACAATACATAATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02258.hp2 HG02647.hp1 others(2): Show HG02074.hp2 HG02258.hp2 HG02647.hp1 HG03540.hp1 NA19240.hp2	a0006 a0008 a0033 a0006 a0008 a0033	a0006c0007 a0008c0020 a0033c0036 a0006c0007 a0008c0020 a0033c0036	a0006c0007t0001 a0008c0020t0001 a0033c0036t0001 a0006c0007t0001 a0008c0020t0001 a0033c0036t0001	a0006c0007t0001g0228 a0008c0020t0001g0033 a0008c0020t0001g0268 others(1): Show a0006c0007t0001g0228 a0008c0020t0001g0033 a0008c0020t0001g0268 a0033c0036t0001g0227	5	332	0.0151	-33	c.756 others(48): Show c.756-573_756-541delTATATATATTATGTATTGTATAATATATAT AAT	PZP	ENSG00000126838.10	transcript	ENST00000261336.7	protein_coding	7/35			chr12	TogoVar
PZP_chr12_9143840_9213395	9197718	AATATATA others(26): Show AATATATATAATTATATATTATACAATACATAAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18522.hp2 HG03486.hp2 NA18522.hp2	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0001 a0011c0010t0001	a0011c0010t0001g0021 a0011c0010t0001g0021	2	332	0.0060	-33	c.756 others(48): Show c.756-628_756-596delATTATGTATTGTATAATATATAATTATATA TAT	PZP	ENSG00000126838.10	transcript	ENST00000261336.7	protein_coding	7/35			chr12	TogoVar
PZP_chr12_9143840_9213395	9197780	AATATATA others(26): Show AATATATATAATTATATATTATACAATACATAAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0025 a0001c0031t0001g0025	1	332	0.0030	-33	c.756 others(48): Show c.756-690_756-658delATTATGTATTGTATAATATATAATTATATA TAT	PZP	ENSG00000126838.10	transcript	ENST00000261336.7	protein_coding	7/35			chr12	TogoVar
RAB11FIP4_chr17_31386675_31543211	31445548	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0306	1	306	0.0033	-33	c.336 others(52): Show c.336+11428_336+11460delATATATATATATATATATATATATAT ATATTTT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar

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