Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PALLD_chr4_168492052_168933441	168709633	A A	AGGGAGGG others(36): Show AGGGAGGGAGGGAGGGAGGGAGGAAGGGGGAAAAGGAGTGGGGG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0003 a0002c0017t0003	a0002c0017t0003g0084 a0002c0017t0003g0084	1	156	0.0064	43	c.162 others(60): Show c.1621+486_1621+487insGGGAGGGAGGGAGGGAGGGAGGAAGGGG GAAAAGGAGTGGGGG	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	9/21			chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110076492	C C	CATATATA others(36): Show CATATATATATATATATATATATATATTCTACATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA20300.hp2 HG02486.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0168 a0001c0001t0001g0169	2	222	0.0090	43	c.583 others(62): Show c.583-59616_583-59615insTATATATTCTACATATATATATATAT ATATATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02723.hp1 HG00733.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0221 a0001c0001t0002g0200 a0001c0001t0002g0221	2	222	0.0090	43	c.583 others(58): Show c.583-962_583-961insAAAAAAAAAAAAATATATATATATATATAT ATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAAAA others(36): Show AAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	222	0.0045	43	c.583 others(58): Show c.583-962_583-961insAAAAAAATATATATATATATATATATATAT ATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALS1_chr14_67236435_67341061	67284547	T T	TAAAAAAA others(36): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0118	1	290	0.0035	43	c.367 others(60): Show c.367+5051_367+5052insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAQR5_chr15_69293912_69412780	69300937	C C	CTCTTTCT others(36): Show CTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTCCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0226 a0001c0001t0005g0226	1	284	0.0035	43	c.-27 others(62): Show c.-277+1891_-277+1892insTTTCTTCTTTCTTTCTTTCTTCCTTT CTTTCTTTCTTTCTTTC	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69301012	T T	TTTCTTTC others(36): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0160	1	284	0.0035	43	c.-27 others(62): Show c.-277+1957_-277+1958insTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3B_chr2_204540475_205625162	205054436	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATTTATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	54	0.0185	43	c.504 others(60): Show c.504+6747_504+6748insATATATATATATATATATATATATATAT ATTTATATATATATT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205380523	A A	ATATATAT others(36): Show ATATATATTATATATACAGTATATATTATATATAATATATACAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0019 a0003c0010t0019	a0003c0010t0019g0030 a0003c0010t0019g0030	1	54	0.0185	43	c.263 others(64): Show c.2631-20475_2631-20474insCAGTATATATTATATATAATATAT ACAGTATATATTATATATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205380550	A A	ATATATAT others(36): Show ATATATATTATATATACAGTATATATTATATATTATATATACAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0002 a0004c0019t0002	a0004c0019t0002g0036 a0004c0019t0002g0036	1	54	0.0185	43	c.263 others(64): Show c.2631-20448_2631-20447insCAGTATATATTATATATTATATAT ACAGTATATATTATATATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205380880	T T	TTATATAT others(36): Show TTATATATAATATAAAGAATACATTATAATATATAAAGAATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0045 a0003c0005t0005g0045	1	54	0.0185	43	c.263 others(64): Show c.2631-20129_2631-20128insTATAATATAAAGAATACATTATAA TATATAAAGAATATATATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3_chr10_34104561_34820296	34605841	A A	ATATATAT others(36): Show ATATATATATCTCCTACATATATATCTCCTATATATATATCTCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0017 a0001c0002t0007g0017	1	100	0.0100	43	c.223 others(62): Show c.223-88683_223-88682insGGAGATATATATATAGGAGATATATA TGTAGGAGATATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34605933	A A	ATATATAT others(36): Show ATATATATATCTCCTATATATATATCTCCTATATATATATCTCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03471.hp2 HG02145.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0055 a0001c0001t0012g0054 a0001c0001t0003g0055 a0001c0001t0012g0054	2	100	0.0200	43	c.223 others(62): Show c.223-88775_223-88774insGGAGATATATATATAGGAGATATATA TATAGGAGATATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARN_chr16_14430701_14635260	14501435	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	169	0.0059	43	c.148 others(64): Show c.1481-18609_1481-18608insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	21/23			chr16	TogoVar
PARP10_chr8_143972158_143991460	143981504	A A	AGGTGATG others(36): Show AGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 NA19084.hp2 others(1): Show HG01168.hp2 HG01169.hp1 NA19084.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0160 a0001c0001t0001g0170 a0002c0002t0002g0030 a0001c0001t0001g0160 a0001c0001t0001g0170 a0002c0002t0002g0030	4	380	0.0105	43	c.255 others(62): Show c.2556+1427_2556+1428insACCTTCACCACTCACTGTCGTCACCA CCATCATCACCATCACC	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981506	G G	GTGATGGT others(36): Show GTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0077 a0003c0003t0001g0077	1	380	0.0026	43	c.255 others(62): Show c.2556+1425_2556+1426insTCACCTTCACCACTCACTGTCGTCAC CACCATCATCACCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981512	G G	GTGATGAT others(36): Show GTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0182 a0004c0004t0001g0182	1	380	0.0026	43	c.255 others(62): Show c.2556+1419_2556+1420insTCACCATCACCTTCACCACTCACTGT CGTCACCACCATCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981512	G G	GTGATGAT others(36): Show GTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01884.hp1 HG01891.hp1 others(6): Show HG00609.hp2 HG01884.hp1 HG01891.hp1 HG02486.hp1 HG02723.hp2 HG03688.hp2 NA19030.hp2 NA19074.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0159 others(6): Show a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0159 a0004c0004t0001g0179 a0004c0004t0001g0180 a0004c0004t0001g0181 a0004c0004t0001g0192 a0004c0004t0001g0194 a0004c0004t0001g0195	9	380	0.0237	43	c.255 others(62): Show c.2556+1419_2556+1420insTCACCACCACCTTCACCACTCACTGT CGTCACCACCATCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PASD1_chrX_151558675_151681739	151562857	C C	CCGGGCGG others(36): Show CCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGGGGCGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0049 a0001c0003t0005g0049	1	221	0.0045	43	c.-10 others(54): Show c.-1010_-1009insCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGGGG CGGGGGGGG	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		817		chrX	TogoVar
PATL1_chr11_59631716_59674037	59632700	T T	TATATATC others(36): Show TATATATCTATATATCTATATATATCTATATATCATATATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02970.hp1 NA19030.hp1 others(1): Show HG01192.hp2 HG02970.hp1 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0124 a0001c0001t0001g0009 a0001c0001t0001g0124	4	276	0.0145	43	c.56 others(54): Show c.5689_*5690insCTATATATATGATATATAGATATATATAGATATA TAGATATAT	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		4015		chr11	TogoVar
PCDH15_chr10_53797771_54806231	54146907	G G	GTGTATAT others(36): Show GTGTATATATATAGTGTGTATATATATAGTGTATATATATATAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG01261.hp1 others(9): Show HG00738.hp2 HG00741.hp1 HG01261.hp1 HG02027.hp2 HG02602.hp2 HG02922.hp2 HG03209.hp1 HG03492.hp2 HG03579.hp1 NA18945.hp1 NA19088.hp2 NA20905.hp2	a0001 a0004 a0006 others(6): Show a0001 a0004 a0006 a0008 a0009 a0011 a0013 a0018 a0019	a0001c0001 a0004c0004 a0006c0006 others(6): Show a0001c0001 a0004c0004 a0006c0006 a0008c0032 a0009c0008 a0011c0017 a0013c0015 a0018c0037 a0019c0038	a0001c0001t0003 a0004c0004t0001 a0004c0004t0002 others(9): Show a0001c0001t0003 a0004c0004t0001 a0004c0004t0002 a0004c0004t0006 a0006c0006t0005 a0006c0006t0010 a0008c0032t0001 a0009c0008t0001 a0011c0017t0002 a0013c0015t0001 a0018c0037t0013 a0019c0038t0001	a0001c0001t0003g0015 a0004c0004t0001g0059 a0004c0004t0002g0096 others(9): Show a0001c0001t0003g0015 a0004c0004t0001g0059 a0004c0004t0002g0096 a0004c0004t0006g0026 a0006c0006t0005g0055 a0006c0006t0010g0030 a0008c0032t0001g0021 a0009c0008t0001g0048 a0011c0017t0002g0072 a0013c0015t0001g0029 a0018c0037t0013g0062 a0019c0038t0001g0040	12	102	0.1177	43	c.178 others(62): Show c.1784+6192_1784+6193insTTATATATATATACACTATATATATA CACACTATATATATACA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	14/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54146907	G G	GTGTATAT others(36): Show GTGTATATATATAGTGTGTATATATATAGTGTATATATATATAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01261.hp2 others(9): Show HG00738.hp1 HG00741.hp1 HG01261.hp2 HG02027.hp2 HG02602.hp2 HG02922.hp2 HG03209.hp2 HG03492.hp2 HG03579.hp1 NA18945.hp1 NA19088.hp2 NA20905.hp1	a0001 a0004 a0006 others(4): Show a0001 a0004 a0006 a0007 a0011 a0013 a0016	a0001c0001 a0004c0004 a0004c0044 others(5): Show a0001c0001 a0004c0004 a0004c0044 a0006c0008 a0007c0019 a0011c0021 a0013c0017 a0016c0043	a0001c0001t0001 a0004c0004t0001 a0004c0044t0001 others(5): Show a0001c0001t0001 a0004c0004t0001 a0004c0044t0001 a0006c0008t0001 a0007c0019t0001 a0011c0021t0001 a0013c0017t0001 a0016c0043t0004	a0001c0001t0001g0015 a0001c0001t0001g0021 a0004c0004t0001g0023 others(9): Show a0001c0001t0001g0015 a0001c0001t0001g0021 a0004c0004t0001g0023 a0004c0004t0001g0037 a0004c0004t0001g0055 a0004c0044t0001g0088 a0006c0008t0001g0027 a0006c0008t0001g0053 a0007c0019t0001g0045 a0011c0021t0001g0066 a0013c0017t0001g0026 a0016c0043t0004g0058	12	94	0.1277	43	c.178 others(62): Show c.1784+6192_1784+6193insTTATATATATATACACTATATATATA CACACTATATATATACA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	14/32			chr10	TogoVar
PCDH9_chr13_66297834_67235336	66759710	T T	TATAACAG others(36): Show TATAACAGGTTATCTTAAGTTGGTAACAAGTTAACTTTGATGGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02145.hp2 HG03209.hp2 HG01167.hp1 HG02145.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0008 a0001c0001t0019 a0001c0011t0007 a0001c0001t0008 a0001c0001t0019 a0001c0011t0007	a0001c0001t0008g0079 a0001c0001t0019g0075 a0001c0011t0007g0002 a0001c0001t0008g0079 a0001c0001t0019g0075 a0001c0011t0007g0002	3	80	0.0375	43	c.313 others(66): Show c.3139-128300_3139-128299insTCCATCAAAGTTAACTTGTTAC CAACTTAAGATAACCTGTTAT	PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	3/4			chr13	TogoVar
PCGF3_chr4_700832_775089	717012	T T	TGTGCTGG others(36): Show TGTGCTGGGACCCTGCAGACACTGAGGGTGAGAACTGGGCGTCG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02109.hp1 HG02976.hp1 HG01167.hp1 HG02109.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0015 a0001c0001t0012g0008 a0001c0001t0012g0016 a0001c0001t0004g0015 a0001c0001t0012g0008 a0001c0001t0012g0016	3	366	0.0082	43	c.-19 others(64): Show c.-190+11056_-190+11057insCAGACACTGAGGGTGAGAACTGGG CGTCGGTGCTGGGACCCTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	717080	G G	GTGTGAGA others(36): Show GTGTGAGAACTGAGCGTCGGTGCTGGGACCCTGTAGACACTGAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03516.hp1 HG02109.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0295 a0002c0002t0001g0294 a0001c0001t0001g0295 a0002c0002t0001g0294	2	366	0.0055	43	c.-19 others(64): Show c.-190+11165_-190+11207dupAGCGTCGGTGCTGGGACCCTGTAG ACACTGAATGTGAGAACTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	717080	G G	GTGTGAGA others(36): Show GTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTAGACACTGAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02809.hp2 HG02895.hp2 others(2): Show HG02559.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0001c0001t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0004g0254 others(2): Show a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0002c0002t0001g0250	5	366	0.0137	43	c.-19 others(64): Show c.-190+11121_-190+11122insGGCGTCGGTGCTGGGACCCTGTAG ACACTGAATGTGAGAACTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	717221	A A	AGCGTCGG others(36): Show AGCGTCGGTGCTGGGACCCTGTAGACACTGAATGTGAGAACTGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01168.hp2 NA20905.hp1 HG00323.hp2 HG01168.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0022 a0001c0001t0013 a0001c0001t0022	a0001c0001t0013g0012 a0001c0001t0022g0011 a0001c0001t0022g0032 a0001c0001t0013g0012 a0001c0001t0022g0011 a0001c0001t0022g0032	3	366	0.0082	43	c.-19 others(64): Show c.-190+11293_-190+11294insGGCGTCGGTGCTGGGACCCTGTAG ACACTGAATGTGAGAACTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCNP_chr3_101569180_101599465	101586571	T T	TGTGTGTG others(36): Show TGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGTTTCTTGTTTCA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02698.hp2 HG03490.hp1 others(5): Show HG01433.hp2 HG02698.hp2 HG03490.hp1 HG03704.hp2 HG04115.hp1 HG04184.hp1 NA18944.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0068 others(3): Show a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0068 a0001c0001t0001g0117 a0001c0001t0001g0127 a0001c0001t0001g0132	8	424	0.0189	43	c.354 others(60): Show c.354+1061_354+1062insTGTGTGTGTGTGAGAGAGAGAGAGAGAG AGTTTCTTGTTTCAG	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCNP_chr3_101569180_101599465	101586571	T T	TGTGTGTG others(36): Show TGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGTTTCTTGTTTCA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01256.hp1 HG01258.hp1 others(2): Show HG01123.hp1 HG01256.hp1 HG01258.hp1 HG02451.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0087 a0001c0001t0001g0088 others(1): Show a0001c0001t0001g0041 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0105	5	424	0.0118	43	c.354 others(60): Show c.354+1061_354+1062insTGTGTGTGTGTGTGAGAGAGAGAGAGAG AGTTTCTTGTTTCAG	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCNP_chr3_101569180_101599465	101586572	G G	GTGTGTGT others(36): Show GTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGTTTCTTGTTTC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	424	0.0024	43	c.354 others(60): Show c.354+1061_354+1062insTGTGTGTGTGTGAGAGAGAGAGAGAGAG AGAGTTTCTTGTTTC	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding	3/4			chr3	TogoVar
PCNP_chr3_101569180_101599465	101586572	G G	GTGTGTGT others(36): Show GTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGTTTCTTGTTTC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 NA18939.hp2 others(1): Show HG01257.hp2 HG01258.hp2 NA18939.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0032 a0001c0001t0001g0119 a0001c0001t0001g0126	4	424	0.0094	43	c.354 others(60): Show c.354+1061_354+1062insTGTGTGTGTGTGTGAGAGAGAGAGAGAG AGAGTTTCTTGTTTC	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding	3/4			chr3	TogoVar
PCNX1_chr14_70902459_71120382	70910055	T T	TCCTCCCC others(36): Show TCCTCCCCCCCCCTCCTCCCCCTCCTCCCCCTCCTCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02738.hp1 NA18967.hp2 others(1): Show HG00423.hp2 HG02738.hp1 NA18967.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0057	a0001c0001t0001g0154 a0001c0001t0004g0158 a0001c0001t0010g0155 others(1): Show a0001c0001t0001g0154 a0001c0001t0004g0158 a0001c0001t0010g0155 a0001c0001t0057g0156	4	352	0.0114	43	c.153 others(60): Show c.153+2057_153+2058insCCCCCCCTCCTCCCCCTCCTCCCCCTCC TCCTCCTCCCCCTCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910055	T T	TCCTCCCC others(36): Show TCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCTCCTCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0015 a0003c0007t0015	a0003c0007t0015g0160 a0003c0007t0015g0160	1	352	0.0028	43	c.153 others(60): Show c.153+2057_153+2058insCCCCCCTCCTCCCCCCTCCTCCCCCTCC TCCTCCTCCCCCTCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCSK6_chr15_101298933_101494707	101412713	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0266 a0001c0002t0003g0266	1	336	0.0030	43	c.824 others(62): Show c.824-14138_824-14137insATATATATATATATATATATATATAT ATATATATATATATATA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	6/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101459451	T T	TGCTGCCA others(36): Show TGCTGCCACCATTCCCGTCCCCCCACCCTAAGTCCACACCACCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0001 a0002c0018t0001	a0002c0018t0001g0017 a0002c0018t0001g0017	1	336	0.0030	43	c.298 others(62): Show c.298-15834_298-15792dupGGGTGGTGTGGACTTAGGGTGGGGGG ACGGGAATGGTGGCAGC	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	1/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101459461	A A	ATTCCCGT others(36): Show ATTCCCGTCCCCCCACCCTAAGTCCACACCACCCGCTGCCACCG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0251 a0001c0010t0002g0251	1	336	0.0030	43	c.298 others(62): Show c.298-15844_298-15802dupCGGTGGCAGCGGGTGGTGTGGACTTA GGGTGGGGGGACGGGAA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	1/21			chr15	TogoVar
PCYOX1L_chr5_149353046_149374653	149370033	T T	TTTTTTTT others(36): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 NA18986.hp2 NA19058.hp1 others(1): Show HG02071.hp2 NA18986.hp2 NA19058.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	4	372	0.0108	43	c.13 others(54): Show c.1379_*1380insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTC	PCYOX1L	ENSG00000145882.11	transcript	ENST00000274569.9	protein_coding		381		chr5	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA19240.hp1 HG02293.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0069 a0001c0002t0003 a0001c0002t0069	a0001c0002t0003g0179 a0001c0002t0069g0168 a0001c0002t0003g0179 a0001c0002t0069g0168	2	260	0.0077	43	c.117 others(60): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATTTTTTTTTTTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAAAT others(36): Show AAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02559.hp1 HG00408.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0127 a0001c0001t0006g0163 a0001c0001t0001g0127 a0001c0001t0006g0163	2	260	0.0077	43	c.117 others(60): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATATATTTTTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAATAT others(36): Show AAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA19070.hp1 HG02523.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0044 a0001c0001t0002g0043 a0001c0001t0001g0044 a0001c0001t0002g0043	2	260	0.0077	43	c.117 others(60): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATATATATTTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAATATAT others(36): Show AAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0017 a0001c0001t0050g0017	1	260	0.0039	43	c.117 others(60): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATATATATATT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	260	0.0039	43	c.117 others(60): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATATATATATA	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PC_chr11_66843420_66963383	66959935	A A	ATATATAT others(36): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	274	0.0037	43	c.-18 others(54): Show c.-1842_-1841insAAAAAAAAAAAAAAAAAAAAATATATATATATAT ATATATATA	PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding		1553		chr11	TogoVar
PDC_chr1_186438566_186466114	186455994	A A	AAAAAAAA others(36): Show AAAAAAAAATATATATATATATATATATATATATGCATGCATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	404	0.0025	43	c.-25 others(60): Show c.-25+5064_-25+5065insATATGCATGCATATATATATATATATAT ATATATATTTTTTTT	PDC	ENSG00000116703.14	transcript	ENST00000391997.3	protein_coding	1/3			chr1	TogoVar
PDGFD_chr11_103902189_104169147	104119077	A A	ATATAATA others(36): Show ATATAATATATCGATATATTATATAATATGTTAATATAATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02258.hp2 HG02735.hp1 others(4): Show HG01255.hp2 HG02258.hp2 HG02735.hp1 HG03130.hp2 HG03516.hp1 HG06807.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001	a0001c0001t0002g0125 a0001c0001t0003g0123 a0001c0001t0007g0122 others(4): Show a0001c0001t0002g0125 a0001c0001t0003g0123 a0001c0001t0007g0122 a0001c0001t0009g0124 a0001c0002t0001g0121 a0001c0002t0001g0149 a0001c0002t0001g0184	7	200	0.0350	43	c.124 others(62): Show c.124+44726_124+44727insATATATTATATTAACATATTATATAA TATATCGATATATTATA	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDLIM1_chr10_95232572_95296003	95256975	A A	AAGAAAGA others(36): Show AAGAAAGAAAGAAAGGAAAGAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00735.hp2 others(4): Show HG00099.hp2 HG00408.hp1 HG00735.hp2 HG01123.hp1 HG01168.hp2 HG01433.hp1 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0083 a0001c0002t0002g0192 others(3): Show a0001c0002t0002g0008 a0001c0002t0002g0083 a0001c0002t0002g0192 a0001c0002t0002g0283 a0001c0002t0002g0286 a0001c0002t0002g0293	7	338	0.0207	43	c.533 others(60): Show c.533+6888_533+6889insCTTTTCTTTTCTTTTCTTTTCTTTCTTT CCTTTCTTTCTTTCT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM1_chr10_95232572_95296003	95256986	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0327 a0002c0003t0007g0327	1	338	0.0030	43	c.533 others(60): Show c.533+6877_533+6878insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0087 a0001c0001t0026g0087	1	334	0.0030	43	c.313 others(60): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATATATTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	334	0.0030	43	c.313 others(60): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATATTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(36): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	334	0.0030	43	c.313 others(60): Show c.313-2864_313-2863insATATATATATATATATATTTTTTTTTTT TTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar

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Search Results (Total: 2299 hits)