Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
PRKG1_chr10_51069487_52303350	51743711	AATATATA others(29): Show AATATATATATATATAATATAAACTAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01192.hp1 HG02258.hp1 others(4): Show HG01123.hp2 HG01192.hp1 HG02258.hp1 HG02615.hp2 HG02818.hp1 HG03225.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0002t0002 a0001c0007t0004	a0001c0001t0001g0005 a0001c0001t0001g0057 a0001c0001t0004g0035 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0057 a0001c0001t0004g0035 a0001c0001t0012g0045 a0001c0001t0013g0011 a0001c0002t0002g0025 a0001c0007t0004g0056	7	57	0.1228	-36	c.593 others(55): Show c.593-60858_593-60823delATATAAACTAAATATATATATATATA TATATATATA		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	52188254	ATATATAT others(29): Show ATATATATACATATGTATATATATACATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02615.hp1 HG02818.hp1 others(1): Show HG01243.hp1 HG02615.hp1 HG02818.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008	a0001c0001t0003 a0001c0003t0002 a0001c0007t0004 others(1): Show a0001c0001t0003 a0001c0003t0002 a0001c0007t0004 a0001c0008t0001	a0001c0001t0003g0015 a0001c0003t0002g0033 a0001c0007t0004g0056 others(1): Show a0001c0001t0003g0015 a0001c0003t0002g0033 a0001c0007t0004g0056 a0001c0008t0001g0020	4	64	0.0625	-36	c.107 others(57): Show c.1076+26300_1076+26335delCATATGTATATATATACATATATA TGTGTATATATA		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKN_chr6_161342417_162732766	162380437	ATATATAT others(29): Show ATATATATATGTATATATACACACATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01884.hp2 HG02258.hp2 others(8): Show HG01361.hp2 HG01884.hp2 HG02258.hp2 HG02647.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03688.hp2 NA18522.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0007 a0003c0005 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0007t0012 a0003c0005t0001 a0003c0006t0002	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 others(8): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0002g0022 a0001c0001t0008g0020 a0001c0003t0001g0025 a0001c0003t0002g0027 a0002c0002t0001g0016 a0002c0007t0012g0018 a0003c0005t0001g0026 a0003c0006t0002g0004	11	32	0.3438	-36	c.171 others(55): Show c.171+62837_171+62872delCACACATATATATGTGTGTATATATA CATATATATA		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11						chr6	TogoVar
PRLH_chr2_237561574_237572175	237565770	CACATACT others(29): Show CACATACTCACACAACTACACACACATCCACACACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03491.hp2 HG03492.hp1 others(1): Show HG03017.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	402	0.0100	-36	c.-80 others(45): Show c.-803_-768delACATACTCACACAACTACACACACATCCACACACAT		PRLH	ENSG00000071677.1	transcript	ENST00000165524.1	protein_coding					803		chr2	TogoVar
PROX1_chr1_213982973_214046510	213994750	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0081 a0001c0001t0024g0081	1	34	0.0294	-36	c.-67 others(53): Show c.-67-1701_-67-1666delTATATATATATATATATATATATATATA TATATATA		PROX1	ENSG00000117707.17	transcript	ENST00000366958.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRR36_chr19_7863719_7879390	7870537	CAGGGGGA others(29): Show CAGGGGGAGAGAAAGGGGCCTGCACTGGGGGTGAGGG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02132.hp2 HG02922.hp2 NA18944.hp1 others(1): Show HG02132.hp2 HG02922.hp2 NA18944.hp1 NA19087.hp2	a0006 a0025 a0006 a0025	a0006c0007 a0025c0019 a0006c0007 a0025c0019	a0006c0007t0002 a0025c0019t0001 a0006c0007t0002 a0025c0019t0001	a0006c0007t0002g0020 a0006c0007t0002g0026 a0025c0019t0001g0037 a0006c0007t0002g0020 a0006c0007t0002g0026 a0025c0019t0001g0037	4	381	0.0105	-36	c.267 others(45): Show c.2671_2706delCCCTCACCCCCAGTGCAGGCCCCTTTCTCTCCCCCT	p.Pro others(13): Show p.Pro891_Pro902del	PRR36	ENSG00000183248.12	transcript	ENST00000618550.5	protein_coding	5/6	2818/4467	2671/4041	891/1346			chr19	TogoVar
PRR5_chr22_44697204_44742681	44732831	ATACTACA others(29): Show ATACTACACACGTGCACACACGTGCACACGCACATAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00609.hp1 others(44): Show HG00140.hp1 HG00423.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp2 HG01069.hp2 HG01071.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01928.hp1 HG01943.hp2 HG01975.hp1 HG01993.hp2 HG02015.hp1 HG02055.hp1 HG02071.hp2 HG02273.hp1 HG02273.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02738.hp1 HG02809.hp2 HG03486.hp1 HG03490.hp1 HG03540.hp2 HG04115.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18965.hp1 NA18982.hp2 NA18983.hp2 NA18992.hp1 NA18998.hp1 NA19012.hp1 NA19043.hp1 NA19066.hp1 NA19068.hp2 NA19079.hp2 NA19080.hp2 NA19089.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0004 a0001c0011 others(2): Show a0001c0002 a0001c0004 a0001c0011 a0001c0012 a0003c0007	a0001c0002t0003 a0001c0002t0013 a0001c0004t0004 others(5): Show a0001c0002t0003 a0001c0002t0013 a0001c0004t0004 a0001c0004t0016 a0001c0011t0001 a0001c0012t0004 a0003c0007t0004 a0003c0007t0025	a0001c0002t0003g0200 a0001c0002t0003g0335 a0001c0002t0013g0008 others(40): Show a0001c0002t0003g0200 a0001c0002t0003g0335 a0001c0002t0013g0008 a0001c0002t0013g0166 a0001c0004t0004g0011 a0001c0004t0004g0013 a0001c0004t0004g0018 a0001c0004t0004g0109 a0001c0004t0004g0134 a0001c0004t0004g0136 a0001c0004t0004g0202 a0001c0004t0004g0204 a0001c0004t0004g0210 a0001c0004t0004g0212 a0001c0004t0004g0218 a0001c0004t0004g0229 a0001c0004t0004g0232 a0001c0004t0004g0233 a0001c0004t0004g0234 a0001c0004t0004g0238 a0001c0004t0004g0248 a0001c0004t0004g0261 a0001c0004t0004g0262 a0001c0004t0004g0276 a0001c0004t0004g0285 a0001c0004t0004g0304 a0001c0004t0004g0307 a0001c0004t0004g0319 a0001c0004t0004g0343 a0001c0004t0004g0344 a0001c0004t0004g0354 a0001c0004t0004g0355 a0001c0004t0004g0363 a0001c0004t0004g0367 a0001c0004t0004g0370 a0001c0004t0004g0391 a0001c0004t0004g0409 a0001c0004t0016g0029 a0001c0004t0016g0040 a0001c0011t0001g0281 a0001c0012t0004g0371 a0003c0007t0004g0069 a0003c0007t0025g0064	47	277	0.1697	-36	c.555 others(51): Show c.555+444_555+479delTACACACGTGCACACACGTGCACACGCACA TACTAC		PRR5	ENSG00000186654.21	transcript	ENST00000336985.11	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr22	TogoVar
PRRG3_chrX_151690458_151710924	151703856	GGTTTTTT others(29): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0001 a0001c0001t0057g0001	1	168	0.0060	-36	c.28 others(47): Show c.2824_*2859delGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4				2824		chrX	TogoVar
PRSS53_chr16_31078437_31093943	31086799	CAGGGCAG others(29): Show CAGGGCAGCCACCCCCACCTCTTCGGCCCCAGGGCTG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18612.hp1 NA18612.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0022 a0007c0010t0001g0022	1	316	0.0032	-36	c.306 others(43): Show c.306_341delCAGCCCTGGGGCCGAAGAGGTGGGGGTGGCTGCCCT	p.Ser others(13): Show p.Ser103_Leu114del	PRSS53	ENSG00000151006.8	transcript	ENST00000280606.7	protein_coding	4/11	475/2149	306/1662	102/553			chr16	TogoVar
PRTG_chr15_55606544_55748152	55629367	ATATATAT others(29): Show ATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0058 a0002c0002t0058	a0002c0002t0058g0047 a0002c0002t0058g0047	1	117	0.0085	-36	c.262 others(53): Show c.2624-399_2624-364delCACACACACACACACACACACACACACA TATATATA		PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	15/19						chr15	TogoVar
PSD3_chr8_18522303_19018703	18865258	ATATATAT others(29): Show ATATATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0123 a0004c0009t0003g0123	1	223	0.0045	-36	c.163 others(55): Show c.1634+2380_1634+2415delAAAAAAAATATATATATATATATATA TATATATATA		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15						chr8	TogoVar
PSKH2_chr8_86042109_86074668	86049675	GAAGAAAG others(29): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02074.hp1 HG02683.hp1 others(4): Show HG00558.hp1 HG02074.hp1 HG02683.hp1 NA18945.hp1 NA18957.hp2 NA18962.hp2 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0001 a0002c0002t0002g0002 a0002c0002t0002g0004 others(2): Show a0001c0001t0001g0001 a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0022 a0002c0002t0002g0152	7	229	0.0306	-36	c.853 others(51): Show c.853-944_853-909delTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT		PSKH2	ENSG00000147613.8	transcript	ENST00000276616.3	protein_coding	2/2						chr8	TogoVar
PSKH2_chr8_86042109_86074668	86049718	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAACGAAA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01123.hp1 HG01261.hp1 others(1): Show HG00741.hp1 HG01123.hp1 HG01261.hp1 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0174 a0002c0002t0002g0007 a0002c0002t0002g0174	4	414	0.0097	-36	c.853 others(51): Show c.853-987_853-952delTTTCGTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT		PSKH2	ENSG00000147613.8	transcript	ENST00000276616.3	protein_coding	2/2						chr8	TogoVar
PSMD13_chr11_231976_257984	256521	ACTGACAA others(29): Show ACTGACAATGAAAAAGGCCACAGCTGAGTCCAAGCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	448	0.0022	-36	c.39 others(47): Show c.3922_*3957delCTGACAATGAAAAAGGCCACAGCTGAGTCCAAGC CC		PSMD13	ENSG00000185627.19	transcript	ENST00000532097.6	protein_coding					3538		chr11	TogoVar
PSMD1_chr2_231051867_231177827	231165024	TTATATAT others(29): Show TTATATATATTTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01952.hp2 HG02109.hp2 others(12): Show HG01891.hp1 HG01952.hp2 HG02109.hp2 HG02148.hp1 HG02451.hp1 HG02622.hp1 HG02895.hp1 HG02976.hp2 NA18522.hp1 NA18984.hp2 NA18995.hp1 NA19030.hp2 NA19077.hp1 NA19078.hp1 NA19082.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0003c0007t0001 a0001c0001t0001 a0001c0001t0002 a0003c0007t0001	a0001c0001t0001g0230 a0001c0001t0001g0240 a0001c0001t0001g0241 others(12): Show a0001c0001t0001g0230 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0275 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0002g0090 a0001c0001t0002g0098 a0003c0007t0001g0239	15	163	0.0920	-36	c.248 others(53): Show c.2482-166_2482-131delTTATATATATATATATATATATATATAT ATATATAT		PSMD1	ENSG00000173692.14	transcript	ENST00000308696.11	protein_coding	21/24					INFO_REALIGN_3_PRIME	chr2	TogoVar
PTBP3_chr9_112213435_112338619	112231973	AGAGAAGA others(29): Show AGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18948.hp1 NA19002.hp2 HG03139.hp2 NA18948.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0151 a0001c0001t0003g0208 a0001c0001t0003g0067 a0001c0001t0003g0151 a0001c0001t0003g0208	3	336	0.0089	-36	c.102 others(52): Show c.1020+90_1020+125delCTTCTCTTCTCTTCTCTTCTCTTCTCTTC TCTTCTC		PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	9/13						chr9	TogoVar
PTCHD1_chrX_23329849_23409374	23342278	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0073 a0001c0003t0073	a0001c0003t0073g0273 a0001c0003t0073g0273	1	277	0.0036	-36	c.351 others(53): Show c.351+7054_351+7089delATATATATATATATATATATATATATAT ATATTTTT		PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23342284	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18993.hp1 NA19066.hp1 NA18979.hp2 NA18993.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0050 a0001c0002t0003 a0001c0002t0050	a0001c0002t0003g0224 a0001c0002t0003g0241 a0001c0002t0050g0223 a0001c0002t0003g0224 a0001c0002t0003g0241 a0001c0002t0050g0223	3	172	0.0174	-36	c.351 others(53): Show c.351+7060_351+7095delATATATATATATATATATATATATATTT TTTTTTTT		PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23342286	ATATATAT others(29): Show ATATATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18951.hp1 NA18972.hp1 HG00408.hp1 NA18951.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0015 a0001c0001t0005 a0001c0002t0015	a0001c0001t0005g0228 a0001c0002t0015g0221 a0001c0002t0015g0229 a0001c0001t0005g0228 a0001c0002t0015g0221 a0001c0002t0015g0229	3	284	0.0106	-36	c.351 others(53): Show c.351+7062_351+7097delATATATATATATATATATATATATTTTT TTTTTTTT		PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
PTGER3_chr1_70965782_71052816	70981312	CTTCCTTT others(29): Show CTTCCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01175.hp2 HG01256.hp1 others(11): Show HG01109.hp1 HG01175.hp2 HG01256.hp1 HG01981.hp2 HG02257.hp2 HG03225.hp1 NA18961.hp2 NA18966.hp1 NA18977.hp2 NA18982.hp2 NA18990.hp2 NA19066.hp1 NA19080.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0029 a0001c0001t0001g0077 a0001c0001t0002g0003 others(10): Show a0001c0001t0001g0029 a0001c0001t0001g0077 a0001c0001t0002g0003 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0052 a0001c0001t0002g0060 a0001c0001t0002g0159 a0001c0001t0002g0303 a0001c0001t0002g0309 a0001c0001t0002g0318	14	182	0.0769	-36	c.107 others(55): Show c.1078-6960_1078-6925delAGAAAGAAAGAAAGAAAGAAAGAAAG AAGAAAGGAA		PTGER3	ENSG00000050628.21	transcript	ENST00000306666.10	protein_coding	2/3						chr1	TogoVar
PTGER4_chr5_40674915_40698735	40697226	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00558.hp2 others(31): Show HG00280.hp1 HG00423.hp2 HG00558.hp2 HG00642.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01257.hp2 HG01496.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG02148.hp1 HG02155.hp1 HG02273.hp1 HG02300.hp2 HG03688.hp1 NA18942.hp1 NA18945.hp1 NA18950.hp2 NA18965.hp1 NA18967.hp1 NA18973.hp1 NA18984.hp1 NA18989.hp2 NA18998.hp1 NA19007.hp2 NA19055.hp1 NA19060.hp2 NA19066.hp2 NA19074.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0054 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0076 a0001c0001t0009g0001	34	225	0.1511	-36	c.48 others(47): Show c.4849_*4884delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG		PTGER4	ENSG00000171522.6	transcript	ENST00000302472.4	protein_coding					3492		chr5	TogoVar
PTHLH_chr12_27953084_27977733	27977397	GTACAACT others(29): Show GTACAACTTAGGGTGCTTTTTTGTTTTGTTTTTACCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	454	0.0022	-36	c.-52 others(47): Show c.-5269_-5234delGGGTAAAAACAAAACAAAAAAGCACCCTAAGTTG TA		PTHLH	ENSG00000087494.16	transcript	ENST00000545234.6	protein_coding					4665		chr12	TogoVar
PTK2_chr8_140652900_141006282	140670474	AAAAAAAA others(29): Show AAAAAAAAAACAACAACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	287	0.0035	-36	c.283 others(53): Show c.2833-775_2833-740delGTGTGTGTGTGTGTGTGTGTGTTGTTGT TTTTTTTT		PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	32/35						chr8	TogoVar
PTP4A2_chr1_31901421_31943368	31908111	AAAATATA others(29): Show AAAATATATATATATATATATATATTATATTATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp1 HG02922.hp1 HG03453.hp2 others(1): Show HG02258.hp1 HG02922.hp1 HG03453.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0017 a0001c0001t0007 a0001c0001t0009 a0001c0001t0017	a0001c0001t0007g0130 a0001c0001t0007g0133 a0001c0001t0009g0150 others(1): Show a0001c0001t0007g0130 a0001c0001t0007g0133 a0001c0001t0009g0150 a0001c0001t0017g0147	4	217	0.0184	-36	c.70 others(45): Show c.705_*740delATATATAATATAATATATATATATATATATATATTT		PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6				705		chr1	TogoVar
PTP4A2_chr1_31901421_31943368	31908113	AATATATA others(29): Show AATATATATATATATATATATATTATATTATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG01884.hp2 others(2): Show HG00140.hp2 HG00280.hp1 HG01884.hp2 NA18977.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0023 a0001c0001t0001g0173 a0001c0001t0001g0235 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0173 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0020g0210	5	289	0.0173	-36	c.70 others(45): Show c.703_*738delATATATATAATATAATATATATATATATATATATAT		PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6				703		chr1	TogoVar
PTPN11_chr12_112413947_112514918	112442830	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0111 a0001c0001t0007g0111	1	30	0.0333	-36	c.15- others(51): Show c.15-3433_15-3398delTATATATATATATATATATATATATATATA TATATA		PTPN11	ENSG00000179295.19	transcript	ENST00000351677.7	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPN14_chr1_214343700_214556602	214462659	CGCCTTTT others(29): Show CGCCTTTTGGGCCTACCCCTGCATTCTATTTTAGCTT	C C	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0112 a0001c0002t0112	a0001c0002t0112g0051 a0001c0002t0112g0051	1	270	0.0037	-36	c.174 others(53): Show c.174+1935_174+1970delAAGCTAAAATAGAATGCAGGGGTAGGCC CAAAAGGC		PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	2/18						chr1	TogoVar
PTPN22_chr1_113808811_113876712	113850200	AGAAGGAA others(29): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	59	0.0169	-36	c.829 others(53): Show c.829-1610_829-1575delCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTC		PTPN22	ENSG00000134242.16	transcript	ENST00000359785.10	protein_coding	10/20						chr1	TogoVar
PTPN3_chr9_109370700_109503307	109409617	TGAGACCA others(29): Show TGAGACCAGCTTGGACAACATGGTGAAACCCCATCTC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0008 a0001c0001t0016g0008	1	288	0.0035	-36	c.157 others(53): Show c.1578+346_1578+381delGAGATGGGGTTTCACCATGTTGTCCAAG CTGGTCTC		PTPN3	ENSG00000070159.14	transcript	ENST00000374541.4	protein_coding	16/25						chr9	TogoVar
PTPRD_chr9_8309246_10618002	8757635	TATATATA others(29): Show TATATATACATACATATATACATATATATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	33	0.0303	-36	c.-10 others(57): Show c.-103-23725_-103-23690delGTATGTATATATATATGTATATAT GTATGTATATAT		PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	11/45						chr9	TogoVar
PTPRD_chr9_8309246_10618002	8934417	GTGTGTAT others(29): Show GTGTGTATATATATATATAAATATATATATAAATTTA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0020 a0005c0016t0020	a0005c0016t0020g0011 a0005c0016t0020g0011	1	33	0.0303	-36	c.-10 others(57): Show c.-104+84244_-104+84279delTAAATTTATATATATATTTATATA TATATATACACA		PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	11/45						chr9	TogoVar
PTPRD_chr9_8309246_10618002	9286873	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03139.hp1 HG02055.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0007 a0001c0010t0017 a0001c0003t0007 a0001c0010t0017	a0001c0003t0007g0029 a0001c0010t0017g0016 a0001c0003t0007g0029 a0001c0010t0017g0016	2	5	0.4000	-36	c.-20 others(59): Show c.-202-103546_-202-103511delATATATATATATATATATATAT ATATATATATATAT		PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	9/45						chr9	TogoVar
PTPRD_chr9_8309246_10618002	9845133	AATATATA others(29): Show AATATATATATATATTGCTCTATATATAGAGCAATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0015 a0001c0004t0018g0015	1	12	0.0833	-36	c.-36 others(57): Show c.-367-78318_-367-78283delATATTGCTCTATATATAGAGCAAT ATATATATATAT		PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	5/45						chr9	TogoVar
PTPRE_chr10_127902103_128090855	128020022	CTGTGTGT others(29): Show CTGTGTGTGTGTGTGTGTGTGTGTGCACGCGCGCACG	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02572.hp1 HG04199.hp1 others(1): Show HG01168.hp2 HG02572.hp1 HG04199.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008	a0001c0001t0002g0183 a0001c0001t0002g0260 a0001c0001t0004g0102 others(1): Show a0001c0001t0002g0183 a0001c0001t0002g0260 a0001c0001t0004g0102 a0001c0001t0008g0258	4	91	0.0440	-36	c.-7- others(53): Show c.-7-20834_-7-20799delTGTGTGCACGCGCGCACGTGTGTGTGTG TGTGTGTG		PTPRE	ENSG00000132334.17	transcript	ENST00000254667.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
PTPRG_chr3_61556571_62302609	61792668	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02109.hp1 HG02145.hp2 others(6): Show HG01071.hp1 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02723.hp1 HG02896.hp1 HG02970.hp1 HG03098.hp1 HG03453.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0008	a0001c0001 a0002c0002 a0003c0004 others(3): Show a0001c0001 a0002c0002 a0003c0004 a0004c0006 a0007c0017 a0008c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0002c0002t0001 a0003c0004t0002 a0003c0004t0007 a0004c0006t0001 a0007c0017t0002 a0008c0009t0002	a0001c0001t0002g0062 a0001c0001t0003g0012 a0001c0001t0016g0031 others(6): Show a0001c0001t0002g0062 a0001c0001t0003g0012 a0001c0001t0016g0031 a0002c0002t0001g0064 a0003c0004t0002g0071 a0003c0004t0007g0076 a0004c0006t0001g0027 a0007c0017t0002g0013 a0008c0009t0002g0029	9	29	0.3103	-36	c.190 others(55): Show c.190+43730_190+43765delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT		PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRK_chr6_127963785_128525599	128435082	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGCAGGAAGGC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG02922.hp2 others(4): Show HG00280.hp1 HG00639.hp2 HG02922.hp2 HG03139.hp2 HG03195.hp1 HG03942.hp1 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0012 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0012t0001 a0002c0008t0001	a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0040 others(4): Show a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0002t0001g0048 a0001c0006t0001g0050 a0001c0012t0001g0049 a0002c0008t0001g0020	7	52	0.1346	-36	c.101 others(55): Show c.101-37430_101-37395delGCCTTCCTGCCTTCCTTCCTTCCTTC CTTCCTTCCT		PTPRK	ENSG00000152894.15	transcript	ENST00000368226.9	protein_coding	1/29						chr6	TogoVar
PTPRK_chr6_127963785_128525599	128435086	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGAAGGCAGGAAGGCAGGC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02145.hp1 HG01192.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0034 a0001c0001t0001g0039	2	50	0.0400	-36	c.101 others(55): Show c.101-37434_101-37399delGCCTGCCTTCCTGCCTTCCTTCCTTC CTTCCTTCCT		PTPRK	ENSG00000152894.15	transcript	ENST00000368226.9	protein_coding	1/29						chr6	TogoVar
PTPRK_chr6_127963785_128525599	128464620	CATATATA others(29): Show CATATATATATATATACACATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0050 a0001c0006t0001g0050	1	39	0.0256	-36	c.100 others(55): Show c.100+55603_100+55638delATATATATATATATATATGTGTATAT ATATATATAT		PTPRK	ENSG00000152894.15	transcript	ENST00000368226.9	protein_coding	1/29						chr6	TogoVar
PTPRO_chr12_15317508_15603331	15521166	GAATAATT others(29): Show GAATAATTTTGGCAAATAGTTTCCTCAGTAGACATCT	G G	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	162	0.0062	-36	c.189 others(53): Show c.1891+856_1891+891delATAATTTTGGCAAATAGTTTCCTCAGTA GACATCTA		PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	10/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRT_chr20_42067756_43194906	42278073	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0019 a0002c0001t0019	a0002c0001t0019g0023 a0002c0001t0019g0023	1	6	0.1667	-36	c.217 others(55): Show c.2176+4380_2176+4415delTATATATATATATATATATATATATA TATATATATA		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	13/30						chr20	TogoVar
PTPRT_chr20_42067756_43194906	43071651	GGCACATG others(29): Show GGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03209.hp1 NA21309.hp2 HG01109.hp2 HG03209.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0008 a0001c0018 a0003c0020 a0001c0008 a0001c0018 a0003c0020	a0001c0008t0005 a0001c0018t0003 a0003c0020t0016 a0001c0008t0005 a0001c0018t0003 a0003c0020t0016	a0001c0008t0005g0037 a0001c0018t0003g0030 a0003c0020t0016g0029 a0001c0008t0005g0037 a0001c0018t0003g0030 a0003c0020t0016g0029	3	62	0.0484	-36	c.88+ others(55): Show c.88+117959_88+117994delTCAGCCTCCCGAGTAGCTGGGATTAC AGGCATGTGC		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30						chr20	TogoVar
PTPRZ1_chr7_121868161_122067036	122000646	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02148.hp1 HG03041.hp1 HG00735.hp1 HG02148.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0003g0026 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0003g0026	3	39	0.0769	-36	c.124 others(55): Show c.1240+2661_1240+2696delATATATATATATATATATATATATAT ATATATATAT		PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	10/29					INFO_REALIGN_3_PRIME	chr7	TogoVar
PTTG1IP_chr21_44844598_44878690	44873903	TGGGCGAG others(29): Show TGGGCGAGGCGTGACCGAGGGGCGAGGCGTGACCGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG00642.hp1 others(46): Show HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01891.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02056.hp1 HG02080.hp2 HG02109.hp1 HG02145.hp2 HG02293.hp2 HG02559.hp1 HG02572.hp1 HG02717.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp2 HG03704.hp1 HG04199.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18941.hp1 NA18951.hp1 NA18952.hp1 NA18972.hp2 NA18974.hp1 NA18985.hp2 NA18989.hp1 NA18990.hp1 NA19062.hp1 NA19070.hp1 NA19074.hp2 NA19080.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0026	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 others(40): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0112 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0274 a0001c0001t0001g0297 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0042 a0001c0001t0002g0144 a0001c0001t0002g0152 a0001c0001t0002g0184 a0001c0001t0002g0254 a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0049 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0215 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0004g0032 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0067 a0001c0001t0005g0077 a0001c0001t0005g0079 a0001c0001t0006g0016 a0001c0001t0006g0052 a0001c0001t0007g0008 a0001c0001t0007g0260 a0001c0001t0008g0127 a0001c0001t0009g0091 a0001c0001t0015g0129 a0001c0001t0019g0309 a0001c0001t0026g0258	49	197	0.2487	-36	c.-32 others(45): Show c.-323_-288delCTCGGTCACGCCTCGCCCCTCGGTCACGCCTCGCCC		PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding					214		chr21	TogoVar
PUM1_chr1_30926506_31070717	30972260	AAAGAAAA others(29): Show AAAGAAAAGAAGGGAAGGGAAGGGAAGGGGAGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02723.hp2 HG00140.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0106 a0001c0002t0001g0022 a0001c0002t0001g0106	2	267	0.0075	-36	c.150 others(55): Show c.1506+2355_1506+2390delCTCCCCTCCCCTTCCCTTCCCTTCCC TTCTTTTCTT		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21						chr1	TogoVar
PUM2_chr2_20243737_20355844	20336748	CTGTGTGT others(29): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	22	0.0455	-36	c.-18 others(53): Show c.-18-9406_-18-9371delCACACACACACACACACACACACACACA CACACACA		PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	1/20						chr2	TogoVar
PUS7L_chr12_43713992_43763790	43763133	ATTTTAAT others(29): Show ATTTTAATGTTCCAAGTTAATTTATACAGCTTCAGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0035 a0003c0004t0035	a0003c0004t0035g0141 a0003c0004t0035g0141	1	304	0.0033	-36	c.-44 others(47): Show c.-4456_-4421delATCTGAAGCTGTATAAATTAACTTGGAACATTAA AA		PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding					4344		chr12	TogoVar
PUSL1_chr1_1303597_1316677	1315161	CGGAAGAG others(29): Show CGGAAGAGCGAGACAGAGGCACCCACCCAGAGACTTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	350	0.0029	-36	c.37 others(47): Show c.3783_*3818delGGAAGAGCGAGACAGAGGCACCCACCCAGAGACT TG		PUSL1	ENSG00000169972.13	transcript	ENST00000379031.10	protein_coding					3485		chr1	TogoVar
PVALEF_chr17_81160507_81188166	81181281	TCCCTATC others(29): Show TCCCTATCAGACAAGGACATTGAGCTGCTGCCCACAG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00738.hp1 HG00738.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0221 a0005c0008t0001g0221	1	406	0.0025	-36	c.56_ others(41): Show c.56_91delCCCTATCAGACAAGGACATTGAGCTGCTGCCCACAG	p.Ser others(17): Show p.Ser19_Asp31delinsTyr	PVALEF	ENSG00000225180.8	transcript	ENST00000637878.2	protein_coding	4/7	804/1308	56/405	19/134			chr17	TogoVar
PVR_chr19_44638910_44671162	44668313	TTATTATA others(29): Show TTATTATATTTATATAATATGTTTATAATATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG02622.hp2 others(1): Show HG02145.hp1 HG02258.hp1 HG02622.hp2 HG02630.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0105 a0001c0001t0106 a0003c0003t0112 others(1): Show a0001c0001t0105 a0001c0001t0106 a0003c0003t0112 a0003c0003t0115	a0001c0001t0105g0085 a0001c0001t0106g0084 a0003c0003t0112g0011 others(1): Show a0001c0001t0105g0085 a0001c0001t0106g0084 a0003c0003t0112g0011 a0003c0003t0115g0011	4	409	0.0098	-36	c.65 others(47): Show c.6503_*6538delTATTATATTTATATAATATGTTTATAATATATAT AA		PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding					2152		chr19	TogoVar
PXDNL_chr8_51314577_51814445	51577991	GAAAGAAA others(29): Show GAAAGAAAGAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02615.hp1 HG02886.hp2 others(1): Show HG00741.hp2 HG02615.hp1 HG02886.hp2 HG02897.hp1	a0004 a0010 a0027 a0004 a0010 a0027	a0004c0004 a0010c0012 a0027c0022 a0004c0004 a0010c0012 a0027c0022	a0004c0004t0001 a0010c0012t0003 a0027c0022t0003 a0004c0004t0001 a0010c0012t0003 a0027c0022t0003	a0004c0004t0001g0048 a0004c0004t0001g0065 a0010c0012t0003g0012 others(1): Show a0004c0004t0001g0048 a0004c0004t0001g0065 a0010c0012t0003g0012 a0027c0022t0003g0004	4	114	0.0351	-36	c.308 others(55): Show c.308+14600_308+14635delTCCTTCCTTCCTTCCTTCCTTCCTTC CTCTTTCTTT		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	3/22						chr8	TogoVar

Search by Variant

Search

Search Results