JoGo: Joint Open Genome and Omics Platform

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	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
PISD_chr22_31613491_31667215	31637153	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0217 a0001c0001t0003g0217	1	328	0.0031	-17	c.321 others(36): Show c.321+10931_321+10947delATATATTTTTTTTTTTT		PISD	ENSG00000241878.12	transcript	ENST00000439502.7	protein_coding	3/7						chr22	TogoVar
PISD_chr22_31613491_31667215	31637155	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0215 a0001c0001t0003g0215	1	328	0.0031	-17	c.321 others(36): Show c.321+10929_321+10945delATATATATTTTTTTTTT		PISD	ENSG00000241878.12	transcript	ENST00000439502.7	protein_coding	3/7						chr22	TogoVar
PISD_chr22_31613491_31667215	31637157	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0114	1	328	0.0031	-17	c.321 others(36): Show c.321+10927_321+10943delATATATATATTTTTTTT		PISD	ENSG00000241878.12	transcript	ENST00000439502.7	protein_coding	3/7						chr22	TogoVar
PISD_chr22_31613491_31667215	31637161	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18957.hp1 HG00738.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0061 a0001c0001t0005g0108 a0001c0001t0004g0061 a0001c0001t0005g0108	2	328	0.0061	-17	c.321 others(36): Show c.321+10923_321+10939delATATATATATATATTTT		PISD	ENSG00000241878.12	transcript	ENST00000439502.7	protein_coding	3/7						chr22	TogoVar
PISD_chr22_31613491_31667215	31637163	AAATATAT others(10): Show AAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0052	1	328	0.0031	-17	c.321 others(36): Show c.321+10921_321+10937delATATATATATATATATT		PISD	ENSG00000241878.12	transcript	ENST00000439502.7	protein_coding	3/7						chr22	TogoVar
PITPNC1_chr17_67372281_67702256	67495040	GTTTTTTT others(10): Show GTTTTTTTTTTTGTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0185 a0001c0001t0053g0185	1	218	0.0046	-17	c.49- others(34): Show c.49-37750_49-37734delGTTTTTTTTTTTTTTTT		PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM2_chr12_122978480_123156090	123128264	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG02615.hp2 others(10): Show HG01884.hp2 HG02559.hp1 HG02615.hp2 HG02647.hp2 HG02886.hp2 HG02896.hp1 HG02965.hp2 HG03209.hp2 NA18522.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0004 a0002c0003t0009 a0001c0002t0001 a0002c0003t0004 a0002c0003t0009	a0001c0002t0001g0045 a0002c0003t0004g0001 a0002c0003t0004g0004 others(9): Show a0001c0002t0001g0045 a0002c0003t0004g0001 a0002c0003t0004g0004 a0002c0003t0004g0007 a0002c0003t0004g0008 a0002c0003t0004g0009 a0002c0003t0004g0010 a0002c0003t0004g0011 a0002c0003t0004g0012 a0002c0003t0004g0013 a0002c0003t0004g0014 a0002c0003t0009g0006	13	230	0.0565	-17	c.-19 others(38): Show c.-199-17793_-199-17777delTTTTTTTTTTTTTTTTT		PITPNM2	ENSG00000090975.14	transcript	ENST00000320201.10	protein_coding	1/25						chr12	TogoVar
PITPNM3_chr17_6446263_6561555	6484741	GCTGGTAA others(10): Show GCTGGTAAAACATGTTCT	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0026 a0004c0013t0026	a0004c0013t0026g0075 a0004c0013t0026g0075	1	218	0.0046	-17	c.275 others(32): Show c.275-466_275-450delAGAACATGTTTTACCAG		PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	4/19						chr17	TogoVar
PITRM1_chr10_3132728_3177782	3152526	CCCCACTG others(10): Show CCCCACTGTGGGCTCCAG	C C	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0268 a0001c0002t0001g0268	1	446	0.0022	-17	c.162 others(36): Show c.1622-1180_1622-1164delCTGGAGCCCACAGTGGG		PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding	14/26						chr10	TogoVar
PJA2_chr5_109329722_109414974	109354363	CTAGAGAT others(10): Show CTAGAGATATCTATAGAT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02257.hp2 HG02300.hp1 others(1): Show HG02071.hp2 HG02257.hp2 HG02300.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0013 others(1): Show a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0287	4	346	0.0116	-17	c.176 others(36): Show c.1764+1535_1764+1551delATCTATAGATATCTCTA		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9						chr5	TogoVar
PJVK_chr2_178446378_178467102	178463968	TGAAAAAG others(10): Show TGAAAAAGTATTAGAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	-17	c.26 others(28): Show c.2695_*2711delGAAAAAGTATTAGAAAA		PJVK	ENSG00000204311.15	transcript	ENST00000644580.2	protein_coding					1867		chr2	TogoVar
PKD1L1_chr7_47769614_47953466	47781392	TTTTTTTG others(10): Show TTTTTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp1 HG01243.hp2 others(18): Show HG00639.hp1 HG01243.hp1 HG01243.hp2 HG01891.hp1 HG02145.hp1 HG02258.hp1 HG02486.hp1 HG02630.hp1 HG02630.hp2 HG03098.hp1 NA18963.hp2 NA18967.hp2 NA18979.hp1 NA18991.hp2 NA18994.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19090.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0007 a0010 a0013 a0032 a0045 a0048 a0058 a0068 a0078 a0087	a0001c0007 a0001c0075 a0001c0137 others(14): Show a0001c0007 a0001c0075 a0001c0137 a0001c0139 a0002c0003 a0002c0024 a0003c0001 a0007c0021 a0010c0005 a0013c0076 a0032c0101 a0045c0071 a0048c0070 a0058c0082 a0068c0113 a0078c0125 a0087c0060	a0001c0007t0001 a0001c0075t0001 a0001c0137t0001 others(14): Show a0001c0007t0001 a0001c0075t0001 a0001c0137t0001 a0001c0139t0001 a0002c0003t0001 a0002c0024t0001 a0003c0001t0001 a0007c0021t0001 a0010c0005t0001 a0013c0076t0001 a0032c0101t0001 a0045c0071t0001 a0048c0070t0001 a0058c0082t0001 a0068c0113t0001 a0078c0125t0001 a0087c0060t0001	a0001c0007t0001g0144 a0001c0075t0001g0148 a0001c0137t0001g0080 others(18): Show a0001c0007t0001g0144 a0001c0075t0001g0148 a0001c0137t0001g0080 a0001c0139t0001g0300 a0002c0003t0001g0163 a0002c0003t0001g0173 a0002c0003t0001g0191 a0002c0003t0001g0212 a0002c0024t0001g0167 a0003c0001t0001g0255 a0007c0021t0001g0045 a0010c0005t0001g0274 a0010c0005t0001g0286 a0013c0076t0001g0110 a0032c0101t0001g0290 a0045c0071t0001g0123 a0048c0070t0001g0057 a0058c0082t0001g0050 a0068c0113t0001g0211 a0078c0125t0001g0174 a0087c0060t0001g0104	21	306	0.0686	-17	c.852 others(36): Show c.8527-6243_8527-6227delCAAAACAAAACAAAAAA		PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	56/56						chr7	TogoVar
PKD1L1_chr7_47769614_47953466	47832306	TGTCTGGG others(10): Show TGTCTGGGAGGGTCGTCG	T T	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0143 a0001c0007t0001g0143	1	306	0.0033	-17	c.633 others(34): Show c.6337+767_6337+783delCGACGACCCTCCCAGAC		PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	41/56						chr7	TogoVar
PKD1L1_chr7_47769614_47953466	47922714	GCAGCCGC others(10): Show GCAGCCGCCCCGTCCGGC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG02258.hp2 others(17): Show HG01109.hp1 HG01243.hp2 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02717.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1	a0002 a0009 a0010 others(6): Show a0002 a0009 a0010 a0023 a0032 a0063 a0065 a0083 a0084	a0002c0019 a0002c0156 a0009c0046 others(9): Show a0002c0019 a0002c0156 a0009c0046 a0009c0099 a0010c0005 a0023c0055 a0023c0146 a0032c0101 a0063c0100 a0065c0147 a0083c0098 a0084c0061	a0002c0019t0001 a0002c0156t0001 a0009c0046t0002 others(10): Show a0002c0019t0001 a0002c0156t0001 a0009c0046t0002 a0009c0099t0001 a0010c0005t0001 a0010c0005t0002 a0023c0055t0001 a0023c0146t0001 a0032c0101t0001 a0063c0100t0001 a0065c0147t0001 a0083c0098t0002 a0084c0061t0001	a0002c0019t0001g0261 a0002c0156t0001g0263 a0009c0046t0002g0165 others(17): Show a0002c0019t0001g0261 a0002c0156t0001g0263 a0009c0046t0002g0165 a0009c0046t0002g0299 a0009c0099t0001g0164 a0010c0005t0001g0259 a0010c0005t0001g0260 a0010c0005t0001g0274 a0010c0005t0001g0286 a0010c0005t0001g0294 a0010c0005t0002g0009 a0010c0005t0002g0258 a0023c0055t0001g0245 a0023c0055t0001g0246 a0023c0146t0001g0244 a0032c0101t0001g0290 a0063c0100t0001g0170 a0065c0147t0001g0262 a0083c0098t0002g0007 a0084c0061t0001g0015	20	306	0.0654	-17	c.106 others(36): Show c.1060+6473_1060+6489delGCCGGACGGGGCGGCTG		PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	7/56						chr7	TogoVar
PKD1L3_chr16_71924538_72005402	71933978	GGCTCGGC others(10): Show GGCTCGGCTCAGTGTCCT	G G	frameshift_variant frameshift_variant	HIGH	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0068 a0001c0068	a0001c0068t0001 a0001c0068t0001	a0001c0068t0001g0176 a0001c0068t0001g0176	1	308	0.0033	-17	c.474 others(26): Show c.4744_4760delAGGACACTGAGCCGAGC	p.Arg others(6): Show p.Arg1582fs	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	27/30	5184/5623	4744/5199	1582/1732			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71964309	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18966.hp2 HG00738.hp1 NA18966.hp2	a0013 a0015 a0013 a0015	a0013c0014 a0015c0015 a0013c0014 a0015c0015	a0013c0014t0001 a0015c0015t0001 a0013c0014t0001 a0015c0015t0001	a0013c0014t0001g0078 a0015c0015t0001g0253 a0013c0014t0001g0078 a0015c0015t0001g0253	2	308	0.0065	-17	c.246 others(34): Show c.2466-975_2466-959delAAAAAAAAAAAAAAAAA		PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	15/29						chr16	TogoVar
PKD2L1_chr10_100283149_100335228	100314997	AGGAAGGA others(10): Show AGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	306	0.0033	-17	c.349 others(36): Show c.349+14197_349+14213delCTTCCTTCCTTCCTTCC		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100321746	AGAAAGAA others(10): Show AGAAAGAAAGAAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	306	0.0033	-17	c.349 others(34): Show c.349+7448_349+7464delCCTCCCTTCTTTCTTTC		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar
PKD2L2_chr5_137884457_137947747	137914031	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0207 a0002c0002t0001g0207	1	336	0.0030	-17	c.132 others(36): Show c.1328+5108_1328+5124delTTTTTTTTTTTTTTTTT		PKD2L2	ENSG00000078795.17	transcript	ENST00000508883.6	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
PKD2_chr4_88002635_88082777	88082396	ACTGGCAC others(10): Show ACTGGCACCACCTAGCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	342	0.0029	-17	c.67 others(28): Show c.6703_*6719delCTGGCACCACCTAGCTT		PKD2	ENSG00000118762.8	transcript	ENST00000237596.7	protein_coding					4620		chr4	TogoVar
PKLR_chr1_155284293_155306438	155293554	TCGTTGGC others(10): Show TCGTTGGCCGGGGCTTGG	T T	frameshift_variant frameshift_variant	HIGH	NA19003.hp2 NA19003.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0185 a0005c0007t0002g0185	1	311	0.0032	-17	c.113 others(26): Show c.1136_1152delCCAAGCCCCGGCCAACG	p.Thr others(5): Show p.Thr379fs	PKLR	ENSG00000143627.19	transcript	ENST00000342741.6	protein_coding	8/11	1195/3047	1136/1725	379/574			chr1	TogoVar
PKLR_chr1_155284293_155306438	155299006	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	311	0.0032	-17	c.283 others(34): Show c.283+1075_283+1091delAGAAAGAAAGAAAGAAA		PKLR	ENSG00000143627.19	transcript	ENST00000342741.6	protein_coding	2/10						chr1	TogoVar
PKN3_chr9_128697503_128725916	128709905	GACAGAGT others(10): Show GACAGAGTGAGACTCCAA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0001 a0007c0023t0001	a0007c0023t0001g0083 a0007c0023t0001g0083	1	360	0.0028	-17	c.835 others(34): Show c.835+2516_835+2532delAAACAGAGTGAGACTCC		PKN3	ENSG00000160447.7	transcript	ENST00000291906.5	protein_coding	6/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
PKNOX1_chr21_42969562_43038931	43018475	CACACACA others(10): Show CACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01192.hp2 HG01255.hp2 others(20): Show HG01168.hp2 HG01192.hp2 HG01255.hp2 HG01934.hp1 HG01975.hp2 HG02015.hp2 HG02258.hp2 HG02965.hp2 HG03209.hp1 HG03486.hp2 HG03942.hp2 HG06807.hp2 NA18940.hp2 NA18952.hp1 NA18960.hp2 NA18965.hp2 NA18986.hp2 NA18988.hp1 NA19004.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0022 a0001c0001t0030	a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0059 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0007g0010 a0001c0001t0010g0034 a0001c0001t0013g0077 a0001c0001t0022g0022 a0001c0001t0030g0075	23	362	0.0635	-17	c.720 others(32): Show c.720+246_720+262delACACACACACACACACA		PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	7/10						chr21	TogoVar
PKNOX1_chr21_42969562_43038931	43018491	CACACACA others(10): Show CACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	362	0.0028	-17	c.720 others(32): Show c.720+262_720+278delACACACACACACACACA		PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	7/10						chr21	TogoVar
PKNOX2_chr11_125159751_125438389	125404612	AACACACA others(10): Show AACACACACATCACACAC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03098.hp2 HG03209.hp2 others(1): Show HG02258.hp1 HG03098.hp2 HG03209.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0101 a0001c0001t0007g0165 a0001c0001t0007g0166 others(1): Show a0001c0001t0004g0101 a0001c0001t0007g0165 a0001c0001t0007g0166 a0001c0001t0007g0189	4	222	0.0180	-17	c.589 others(34): Show c.589-5578_589-5562delCACATCACACACACACA		PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PKNOX2_chr11_125159751_125438389	125405247	AAAAATTC others(10): Show AAAAATTCCACCTATTTC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp1 HG02630.hp1 others(7): Show HG02451.hp2 HG02622.hp1 HG02630.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03139.hp2 HG03486.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0003t0004 a0001c0006t0002	a0001c0001t0001g0098 a0001c0001t0001g0135 a0001c0001t0001g0209 others(7): Show a0001c0001t0001g0098 a0001c0001t0001g0135 a0001c0001t0001g0209 a0001c0001t0005g0110 a0001c0001t0005g0153 a0001c0001t0005g0170 a0001c0001t0006g0006 a0001c0001t0006g0178 a0001c0003t0004g0125 a0001c0006t0002g0074	10	222	0.0451	-17	c.589 others(34): Show c.589-4944_589-4928delTTCCACCTATTTCAAAA		PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401724	ACCCCGCT others(10): Show ACCCCGCTCACCCCCGAC	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02148.hp1 HG02647.hp2 others(1): Show HG02135.hp1 HG02148.hp1 HG02647.hp2 NA18612.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0005c0037 a0001c0001 a0001c0005 a0005c0037	a0001c0001t0001 a0001c0005t0001 a0005c0037t0005 a0001c0001t0001 a0001c0005t0001 a0005c0037t0005	a0001c0001t0001g0015 a0001c0001t0001g0032 a0001c0005t0001g0083 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0032 a0001c0005t0001g0083 a0005c0037t0005g0087	4	216	0.0185	-17	c.173 others(36): Show c.1737+1023_1737+1039delCGCTCACCCCCGACCCC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PLA2G12A_chr4_109704989_109735070	109705988	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0224 a0001c0001t0018g0224	1	412	0.0024	-17	c.83 others(28): Show c.8372_*8388delATATTTTTTTTTTTTTT		PLA2G12A	ENSG00000123739.11	transcript	ENST00000243501.10	protein_coding					4000		chr4	TogoVar
PLA2G12A_chr4_109704989_109735070	109705990	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03831.hp1 HG03516.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0223 a0001c0001t0003g0127 a0001c0001t0003g0223	2	412	0.0049	-17	c.83 others(28): Show c.8370_*8386delATATATTTTTTTTTTTT		PLA2G12A	ENSG00000123739.11	transcript	ENST00000243501.10	protein_coding					3998		chr4	TogoVar
PLA2G12A_chr4_109704989_109735070	109705992	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG04204.hp1 NA18985.hp2 HG02080.hp1 HG04204.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0041 a0001c0001t0003 a0001c0001t0013 a0001c0001t0041	a0001c0001t0003g0003 a0001c0001t0013g0132 a0001c0001t0041g0128 a0001c0001t0003g0003 a0001c0001t0013g0132 a0001c0001t0041g0128	3	412	0.0073	-17	c.83 others(28): Show c.8368_*8384delATATATATTTTTTTTTT		PLA2G12A	ENSG00000123739.11	transcript	ENST00000243501.10	protein_coding					3996		chr4	TogoVar
PLA2G12A_chr4_109704989_109735070	109705994	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00621.hp1 HG01433.hp2 others(20): Show HG00323.hp1 HG00621.hp1 HG01433.hp2 HG01993.hp1 HG02027.hp2 HG02083.hp1 HG02293.hp2 HG02698.hp2 HG02886.hp1 HG03710.hp2 NA18939.hp1 NA18947.hp1 NA18973.hp1 NA18977.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18991.hp1 NA19003.hp1 NA19010.hp1 NA19060.hp2 NA19062.hp2 NA19070.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0003 a0001c0001t0013 a0001c0001t0018 others(4): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0018 a0001c0001t0023 a0001c0001t0034 a0001c0001t0037 a0007c0008t0003	a0001c0001t0003g0003 a0001c0001t0003g0008 a0001c0001t0003g0034 others(14): Show a0001c0001t0003g0003 a0001c0001t0003g0008 a0001c0001t0003g0034 a0001c0001t0003g0086 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0133 a0001c0001t0003g0138 a0001c0001t0003g0143 a0001c0001t0013g0134 a0001c0001t0013g0151 a0001c0001t0013g0152 a0001c0001t0018g0140 a0001c0001t0023g0018 a0001c0001t0034g0131 a0001c0001t0037g0141 a0007c0008t0003g0235	23	412	0.0558	-17	c.83 others(28): Show c.8366_*8382delATATATATATTTTTTTT		PLA2G12A	ENSG00000123739.11	transcript	ENST00000243501.10	protein_coding					3994		chr4	TogoVar
PLA2G12A_chr4_109704989_109735070	109705996	AAAAAAAT others(10): Show AAAAAAATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG03225.hp2 NA18954.hp1 others(3): Show HG02258.hp2 HG03225.hp2 NA18954.hp1 NA18986.hp1 NA19066.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0033 a0001c0001t0003 a0001c0001t0014 a0001c0001t0033	a0001c0001t0003g0009 a0001c0001t0003g0084 a0001c0001t0003g0085 others(2): Show a0001c0001t0003g0009 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0014g0245 a0001c0001t0033g0135	6	412	0.0146	-17	c.83 others(28): Show c.8364_*8380delATATATATATATTTTTT		PLA2G12A	ENSG00000123739.11	transcript	ENST00000243501.10	protein_coding					3992		chr4	TogoVar
PLA2G12A_chr4_109704989_109735070	109705998	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	412	0.0024	-17	c.83 others(28): Show c.8362_*8378delATATATATATATATTTT		PLA2G12A	ENSG00000123739.11	transcript	ENST00000243501.10	protein_coding					3990		chr4	TogoVar
PLA2G12A_chr4_109704989_109735070	109720574	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	412	0.0024	-17	c.209 others(34): Show c.209-1832_209-1816delTTTTTTTTTTTTTTTTT		PLA2G12A	ENSG00000123739.11	transcript	ENST00000243501.10	protein_coding	1/3						chr4	TogoVar
PLA2G12A_chr4_109704989_109735070	109720589	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0069 a0001c0001t0007g0069	1	412	0.0024	-17	c.209 others(34): Show c.209-1847_209-1831delATTTTTTTTTTTTTTTT		PLA2G12A	ENSG00000123739.11	transcript	ENST00000243501.10	protein_coding	1/3						chr4	TogoVar
PLA2G4A_chr1_186823949_186993981	186827634	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02572.hp2 HG02895.hp1 others(5): Show HG02055.hp2 HG02572.hp2 HG02895.hp1 HG03209.hp1 HG03486.hp2 HG06807.hp1 NA18957.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 a0001c0001t0001 a0001c0001t0002 a0001c0013t0001	a0001c0001t0001g0077 a0001c0001t0001g0181 a0001c0001t0001g0224 others(5): Show a0001c0001t0001g0077 a0001c0001t0001g0181 a0001c0001t0001g0224 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0288 a0001c0001t0002g0283 a0001c0013t0001g0237	8	310	0.0258	-17	c.-14 others(28): Show c.-1470_-1454delTTTTTTTTTTTTTTTTT		PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding					1314		chr1	TogoVar
PLA2G4A_chr1_186823949_186993981	186871365	ATCTTAGA others(10): Show ATCTTAGATTTAATAATG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	310	0.0032	-17	c.115 others(32): Show c.115+862_115+878delTAATGTCTTAGATTTAA		PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PLA2G4C_chr19_48042846_48115817	48098713	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	322	0.0031	-17	c.448 others(32): Show c.448-471_448-455delTTTTTTTTTTTTTTTTT		PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	5/16						chr19	TogoVar
PLAA_chr9_26898372_26952242	26948448	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG02135.hp2 HG02257.hp1 others(26): Show HG00408.hp1 HG02135.hp2 HG02257.hp1 HG02300.hp1 HG02523.hp1 HG02683.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03471.hp1 HG03540.hp2 HG03688.hp2 HG03834.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19054.hp1 NA19055.hp1 NA19075.hp2 NA19081.hp1 NA19083.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0144 others(24): Show a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0168 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0014g0316 a0001c0001t0014g0317	29	374	0.0775	-17	c.-14 others(28): Show c.-1420_-1404delAAAAAAAAAAAAAAAAA		PLAA	ENSG00000137055.15	transcript	ENST00000397292.8	protein_coding					1207		chr9	TogoVar
PLAC1_chrX_134560838_134663471	134603296	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01258.hp1 HG01928.hp1 HG00741.hp1 HG01258.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146	3	252	0.0119	-17	c.-13 others(36): Show c.-130-1191_-130-1175delTATATATATATATATAT		PLAC1	ENSG00000170965.10	transcript	ENST00000359237.9	protein_coding	1/2						chrX	TogoVar
PLAC1_chrX_134560838_134663471	134603297	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01255.hp1 HG01943.hp1 others(1): Show HG00733.hp2 HG01255.hp1 HG01943.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0251 a0001c0001t0002g0216 a0001c0001t0002g0236 others(1): Show a0001c0001t0001g0251 a0001c0001t0002g0216 a0001c0001t0002g0236 a0001c0001t0002g0237	4	252	0.0159	-17	c.-13 others(36): Show c.-130-1192_-130-1176delATATATATATATATATA		PLAC1	ENSG00000170965.10	transcript	ENST00000359237.9	protein_coding	1/2						chrX	TogoVar
PLAC1_chrX_134560838_134663471	134603299	ATATATAT others(10): Show ATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03831.hp1 HG03139.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0169 a0001c0001t0002g0128 a0001c0001t0001g0169 a0001c0001t0002g0128	2	252	0.0079	-17	c.-13 others(36): Show c.-130-1194_-130-1178delAAATATATATATATATA		PLAC1	ENSG00000170965.10	transcript	ENST00000359237.9	protein_coding	1/2						chrX	TogoVar
PLAC1_chrX_134560838_134663471	134603301	ATATATAT others(10): Show ATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	252	0.0040	-17	c.-13 others(36): Show c.-130-1196_-130-1180delAAAAATATATATATATA		PLAC1	ENSG00000170965.10	transcript	ENST00000359237.9	protein_coding	1/2						chrX	TogoVar
PLAC1_chrX_134560838_134663471	134603303	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18990.hp1 HG04228.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0064 a0001c0001t0002g0061 a0001c0001t0001g0064 a0001c0001t0002g0061	2	252	0.0079	-17	c.-13 others(36): Show c.-130-1198_-130-1182delAAAAAAATATATATATA		PLAC1	ENSG00000170965.10	transcript	ENST00000359237.9	protein_coding	1/2						chrX	TogoVar
PLBD2_chr12_113353587_113396629	113354973	AGTGCTGG others(10): Show AGTGCTGGGATTACAGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0193 a0001c0001t0003g0193	1	278	0.0036	-17	c.-36 others(28): Show c.-3627_-3611delGTGCTGGGATTACAGGC		PLBD2	ENSG00000151176.8	transcript	ENST00000280800.5	protein_coding					3613		chr12	TogoVar
PLBD2_chr12_113353587_113396629	113356441	TTCTTTCT others(10): Show TTCTTTCTTTCTTTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0157 a0001c0001t0025g0157	1	278	0.0036	-17	c.-21 others(28): Show c.-2159_-2143delTCTTTCTTTCTTTCTTC		PLBD2	ENSG00000151176.8	transcript	ENST00000280800.5	protein_coding					2145		chr12	TogoVar
PLCB1_chr20_8127266_8889900	8629782	CTTCCTTC others(10): Show CTTCCTTCCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01496.hp2 HG01517.hp2 others(6): Show HG01074.hp1 HG01496.hp2 HG01517.hp2 HG01934.hp2 HG02683.hp1 HG02922.hp2 HG03139.hp1 HG03579.hp1 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0007c0020	a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 a0001c0002t0012 a0001c0003t0001 a0001c0003t0005 a0001c0004t0005 a0001c0004t0019 a0007c0020t0004	a0001c0001t0001g0015 a0001c0001t0004g0025 a0001c0002t0003g0023 others(6): Show a0001c0001t0001g0015 a0001c0001t0004g0025 a0001c0002t0003g0023 a0001c0002t0012g0041 a0001c0003t0001g0043 a0001c0003t0005g0046 a0001c0004t0005g0051 a0001c0004t0019g0052 a0007c0020t0004g0071	9	106	0.0849	-17	c.384 others(34): Show c.384+1354_384+1370delCCTTCCTTTCTTTCTTT		PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8821541	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0053 a0001c0003t0009g0053	1	106	0.0094	-17	c.342 others(38): Show c.3423+31282_3423+31298delATATATATATATATATT		PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	31/31					INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB2_chr15_40282909_40312935	40289928	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03942.hp1 HG03831.hp2 HG03942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0108 a0001c0003t0001g0199 a0001c0003t0001g0108 a0001c0003t0001g0199	2	388	0.0052	-17	c.326 others(32): Show c.3267+80_3267+96delCTCTCTCTCTCTCTCTC		PLCB2	ENSG00000137841.12	transcript	ENST00000260402.8	protein_coding	30/31						chr15	TogoVar

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Search Results (Total: 9132 hits)