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
PDE4B_chr1_65787895_66379574	65927423	T T	TTATATAT others(32): Show TTATATATATAATATATGTAAATATATATAATATGTATTA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01081.hp2 others(13): Show HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01109.hp1 HG01192.hp1 HG01243.hp1 HG01358.hp1 HG01981.hp1 HG02132.hp1 HG02257.hp1 HG03239.hp2 HG03490.hp1 HG03831.hp1 NA18947.hp2 NA19010.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0004 a0001c0002t0013	a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0067 others(13): Show a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0067 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0007g0079 a0001c0002t0001g0013 a0001c0002t0001g0021 a0001c0002t0001g0050 a0001c0002t0001g0083 a0001c0002t0001g0090 a0001c0002t0001g0101 a0001c0002t0004g0040 a0001c0002t0013g0020	16	118	0.1356	39	c.281 others(56): Show c.281+8596_281+8597insTAATATATGTAAATATATATAATATGTA TTATATATATA	PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE6B_chr4_620573_675782	669342	C C	CACTACCC others(32): Show CACTACCCCATGCTGCTGCCACTACTCCATGCTGCTGCCA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19080.hp1 NA19084.hp1 NA19002.hp2 NA19080.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0204 a0001c0001t0002g0018 a0001c0001t0002g0204	3	308	0.0097	39	c.250 others(56): Show c.2504-704_2504-703insACTACCCCATGCTGCTGCCACTACTCCA TGCTGCTGCCA	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21			chr4	TogoVar
PDGFA_chr7_492258_524846	499720	T T	TCCCCCCC others(32): Show TCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0149 a0001c0001t0094g0149	1	302	0.0033	39	c.581 others(56): Show c.581-1147_581-1146insGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGG	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	5/5			chr7	TogoVar
PDGFC_chr4_156755454_156976799	156806641	T T	TAAAAATA others(32): Show TAAAAATAGGTATGGTTTAATTGAAGCAGTTTTCTGACCA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0185 a0001c0001t0007g0185	1	208	0.0048	39	c.495 others(56): Show c.495+4157_495+4195dupTGGTCAGAAAACTGCTTCAATTAAACCA TACCTATTTTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	3/5			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0173 a0001c0001t0006g0173	1	334	0.0030	39	c.313 others(56): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATATATATATT	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(32): Show ATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	334	0.0030	39	c.313 others(56): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATATATTTTTT	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(32): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	334	0.0030	39	c.313 others(56): Show c.313-2864_313-2863insATATATATATATATATATTTTTTTTTTT TTTTTTTTTTT	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(32): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	334	0.0030	39	c.313 others(56): Show c.313-2864_313-2863insATATATATATATATTTTTTTTTTTTTTT TTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDSS1_chr10_26692701_26751798	26693079	T T	TTATATAT others(32): Show TTATATATATATATATATATAATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	416	0.0024	39	c.-46 others(50): Show c.-4633_-4632insTATATATATATATATATATAATATATATATATAT ATATA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4621		chr10	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTCTT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0099 a0003c0004t0001g0099	1	216	0.0046	39	c.-36 others(60): Show c.-361+49917_-361+49918insATATATATATATATATATATATAT TTTTTTTTTTTCTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTCTTT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0108 a0002c0003t0002g0108	1	216	0.0046	39	c.-36 others(60): Show c.-361+49917_-361+49918insATATATATATATATATATATATTT TTTTTTTTTTCTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31969509	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0184 a0001c0001t0017g0184	1	216	0.0046	39	c.477 others(58): Show c.477-13620_477-13619insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	32025591	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	216	0.0046	39	c.140 others(60): Show c.1408-11612_1408-11611insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PEAK1_chr15_77103158_77425104	77414149	C C	CTTCCTTC others(32): Show CTTCCTTCCTTCTTTCTCTTTCCTTCCTTTCCTTCTGTCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00438.hp2 others(74): Show HG00280.hp2 HG00423.hp1 HG00438.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01106.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG02040.hp2 HG02083.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG03017.hp1 HG03453.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp2 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18955.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18980.hp1 NA18985.hp1 NA18989.hp1 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19011.hp2 NA19030.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19084.hp1 NA19085.hp1 NA19091.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0006 a0008 a0011 a0012	a0001c0001 a0003c0003 a0003c0008 others(5): Show a0001c0001 a0003c0003 a0003c0008 a0005c0006 a0006c0007 a0008c0010 a0011c0019 a0012c0018	a0001c0001t0001 a0003c0003t0002 a0003c0003t0006 others(14): Show a0001c0001t0001 a0003c0003t0002 a0003c0003t0006 a0003c0003t0014 a0003c0003t0017 a0003c0003t0022 a0003c0003t0025 a0003c0003t0039 a0003c0003t0042 a0003c0003t0047 a0003c0008t0002 a0005c0006t0011 a0006c0007t0010 a0006c0007t0024 a0008c0010t0017 a0011c0019t0002 a0012c0018t0010	a0001c0001t0001g0145 a0003c0003t0002g0113 a0003c0003t0002g0114 others(74): Show a0001c0001t0001g0145 a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0117 a0003c0003t0002g0120 a0003c0003t0002g0121 a0003c0003t0002g0124 a0003c0003t0002g0125 a0003c0003t0002g0126 a0003c0003t0002g0127 a0003c0003t0002g0128 a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0136 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0002g0139 a0003c0003t0002g0144 a0003c0003t0002g0147 a0003c0003t0002g0150 a0003c0003t0002g0151 a0003c0003t0002g0152 a0003c0003t0002g0153 a0003c0003t0002g0154 a0003c0003t0002g0155 a0003c0003t0002g0156 a0003c0003t0002g0157 a0003c0003t0002g0158 a0003c0003t0002g0159 a0003c0003t0002g0160 a0003c0003t0002g0161 a0003c0003t0002g0162 a0003c0003t0002g0163 a0003c0003t0002g0165 a0003c0003t0002g0178 a0003c0003t0002g0179 a0003c0003t0006g0115 a0003c0003t0006g0140 a0003c0003t0006g0143 a0003c0003t0006g0169 a0003c0003t0006g0170 a0003c0003t0006g0171 a0003c0003t0006g0172 a0003c0003t0006g0173 a0003c0003t0006g0174 a0003c0003t0014g0004 a0003c0003t0014g0149 a0003c0003t0014g0166 a0003c0003t0014g0167 a0003c0003t0017g0118 a0003c0003t0022g0168 a0003c0003t0022g0177 a0003c0003t0025g0142 a0003c0003t0025g0146 a0003c0003t0039g0116 a0003c0003t0042g0119 a0003c0003t0047g0141 a0003c0008t0002g0134 a0003c0008t0002g0135 a0003c0008t0002g0164 a0005c0006t0011g0107 a0005c0006t0011g0108 a0005c0006t0011g0109 a0005c0006t0011g0203 a0005c0006t0011g0256 a0006c0007t0010g0202 a0006c0007t0010g0253 a0006c0007t0010g0254 a0006c0007t0010g0257 a0006c0007t0024g0201 a0008c0010t0017g0122 a0008c0010t0017g0148 a0011c0019t0002g0003 a0012c0018t0010g0255	77	326	0.2362	39	c.-66 others(58): Show c.-666+5818_-666+5856dupAGACAGAAGGAAAGGAAGGAAAGAGA AAGAAGGAAGGAA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	1/9			chr15	TogoVar
PEBP1_chr12_118131124_118150584	118142918	C C	CAGGGCTC others(32): Show CAGGGCTCAGCTCACCTCCTGGGCTCAAGCAACCCTCCTA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0152 a0001c0001t0015g0152	1	426	0.0024	39	c.347 others(56): Show c.347-1667_347-1629dupAGGGCTCAGCTCACCTCCTGGGCTCAAG CAACCCTCCTA	PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEPD_chr19_33381950_33526791	33393487	G G	GCCTCCGT others(32): Show GCCTCCGTGAGCCTCAGCTGCCGCTGGTCAAACAGCCCCA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp1 HG02922.hp1 others(4): Show HG02630.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0190 a0001c0001t0001g0191 others(4): Show a0001c0001t0001g0022 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196	7	314	0.0223	39	c.968 others(56): Show c.968-2047_968-2009dupTGGGGCTGTTTGACCAGCGGCAGCTGAG GCTCACGGAGG	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	12/14			chr19	TogoVar
PEX1_chr7_92482025_92533520	92516060	G G	GAGAAGAG others(32): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0247 a0001c0002t0002g0247	1	310	0.0032	39	c.123 others(58): Show c.1239+1215_1239+1216insTTCTCTTCTCTTCTCTTCTCTTCTCT TCTCTTCTCTTCT	PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23			chr7	TogoVar
PEX5L_chr3_179789958_180041937	180023811	G G	GCTTGGTA others(32): Show GCTTGGTAGAGGAGACCCCCTTCAGAGCCATACCTAGCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02257.hp1 others(4): Show HG02055.hp1 HG02145.hp2 HG02257.hp1 HG02647.hp1 HG02723.hp2 HG02965.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0021 others(4): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0021 a0001c0001t0026 a0001c0001t0027 a0001c0001t0041 a0001c0001t0048	a0001c0001t0004g0045 a0001c0001t0009g0040 a0001c0001t0021g0048 others(4): Show a0001c0001t0004g0045 a0001c0001t0009g0040 a0001c0001t0021g0048 a0001c0001t0026g0046 a0001c0001t0027g0049 a0001c0001t0041g0023 a0001c0001t0048g0047	7	220	0.0318	39	c.21+ others(56): Show c.21+12729_21+12767dupGAGCTAGGTATGGCTCTGAAGGGGGTCT CCTCTACCAAG	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14			chr3	TogoVar
PEX5_chr12_7184686_7216459	7197279	A A	AATGTAAT others(32): Show AATGTAATTATATATGTCATATGTAATAATTATATGTCAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA20805.hp1 HG03017.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0235 a0001c0001t0002g0168 a0001c0001t0002g0235	2	428	0.0047	39	c.449 others(56): Show c.449-1725_449-1724insTATATATGTCATATGTAATAATTATATG TCATATGTAAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX7_chr6_136817592_136918934	136862018	T T	TTTATATA others(32): Show TTTATATATATATATTTTATATATATTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	330	0.0030	39	c.527 others(56): Show c.527-4595_527-4557dupTTTTATATATATTATATATATATATATT ATATATATATA	PEX7	ENSG00000112357.14	transcript	ENST00000318471.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
PFAS_chr17_8244289_8275486	8267934	G G	GTATATTA others(32): Show GTATATTATTTATATATTATTAAAATATATATTATTTATA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0113 a0003c0003t0001g0113	1	388	0.0026	39	c.338 others(56): Show c.3382+299_3382+337dupATTATTTATATATATTATTTATATATTA TTAAAATATAT	PFAS	ENSG00000178921.14	transcript	ENST00000314666.11	protein_coding	26/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
PFKL_chr21_44295053_44332373	44320568	A A	ATACAAAA others(32): Show ATACAAAAAATTAGCTGGGCGTGGTGGTGGCACATGCCTG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0282 a0001c0002t0001g0282	1	392	0.0026	39	c.119 others(56): Show c.1191+429_1191+430insATTAGCTGGGCGTGGTGGTGGCACATGC CTGTACAAAAA	PFKL	ENSG00000141959.17	transcript	ENST00000349048.9	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr21	TogoVar
PFKP_chr10_3062548_3141802	3106606	C C	CTCGCCCT others(32): Show CTCGCCCTGCCACTGCCCCTTCACCCCTGCCACTGCCCCT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0117 a0001c0003t0001g0117	1	402	0.0025	39	c.775 others(54): Show c.775-606_775-605insGCCCTGCCACTGCCCCTTCACCCCTGCCAC TGCCCCTTC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGGHG_chr11_284126_301107	285027	A A	AGTCACTG others(32): Show AGTCACTGCCCGCAGCCCGGCCGCCCCCACGGCACTGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0005 a0001c0004t0004g0005	1	450	0.0022	39	c.-42 others(50): Show c.-4226_-4225insGTCACTGCCCGCAGCCCGGCCGCCCCCACGGCAC TGCCC	PGGHG	ENSG00000142102.16	transcript	ENST00000409548.7	protein_coding		4098		chr11	TogoVar
PGLYRP1_chr19_46014153_46028053	46021878	G G	GGGGGGGG others(32): Show GGGGGGGGGTGGGGGGGGGGGGGGAGGAGGAAAAGAGAGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0067 a0004c0004t0006g0067	1	456	0.0022	39	c.287 others(54): Show c.287+856_287+857insTCTCTCTTTTCCTCCTCCCCCCCCCCCCCC ACCCCCCCC	PGLYRP1	ENSG00000008438.5	transcript	ENST00000008938.5	protein_coding	1/2			chr19	TogoVar
PHACTR3_chr20_59599540_59852711	59622981	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0208 a0001c0001t0014g0208	1	250	0.0040	39	c.118 others(58): Show c.118+17869_118+17870insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHC3_chr3_170082584_170186733	170126528	A A	ATATATAT others(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0030 a0001c0001t0043g0030	1	332	0.0030	39	c.178 others(58): Show c.1788+2155_1788+2156insAAAAAAAAAAAAAAAAATATATATAT ATATATATATATA	PHC3	ENSG00000173889.16	transcript	ENST00000495893.7	protein_coding	8/14			chr3	TogoVar
PHF14_chr7_10968872_11174618	10985636	C C	CCGGTTTT others(32): Show CCGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	298	0.0034	39	c.900 others(56): Show c.900+2477_900+2478insCGGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	3/17			chr7	TogoVar
PHF20_chr20_35767015_35955370	35904767	C C	CTCCTCCT others(32): Show CTCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0146 a0002c0002t0003g0146	1	206	0.0049	39	c.156 others(58): Show c.1561+5123_1561+5124insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCT	PHF20	ENSG00000025293.17	transcript	ENST00000374012.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHF3_chr6_63630802_63731011	63727725	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0265 a0001c0001t0033g0265	1	320	0.0031	39	c.14 others(52): Show c.14017_*14018insTATATATATATATATATATATATATATATATA TATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1715		chr6	TogoVar
PHF3_chr6_63630802_63731011	63727737	A A	AAATATAT others(32): Show AAATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0012 a0001c0001t0024g0012	1	320	0.0031	39	c.14 others(52): Show c.14029_*14030insAATATATATATATATATATATATATATATATA TATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1727		chr6	TogoVar
PHF3_chr6_63630802_63731011	63727737	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0012 a0001c0001t0024g0012	1	320	0.0031	39	c.14 others(52): Show c.14029_*14030insTATATATATATATATATATATATATATATATA TATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1727		chr6	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	AAAAAAAA others(32): Show AAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	192	0.0052	39	c.157 others(60): Show c.1576+48818_1576+48819insAAAAAAATATATATATATATATAT ATATATATATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	AAAAATAT others(32): Show AAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	192	0.0052	39	c.157 others(60): Show c.1576+48818_1576+48819insAAATATATATATATATATATATAT ATATATATATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	AAATATAT others(32): Show AAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	192	0.0052	39	c.157 others(60): Show c.1576+48818_1576+48819insATATATATATATATATATATATAT ATATATATATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62849828	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	192	0.0052	39	c.190 others(60): Show c.1900-10607_1900-10606insTATATATATATATATATATATATA TATATATATATATAT	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16			chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62849832	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	192	0.0052	39	c.190 others(60): Show c.1900-10603_1900-10602insTATATATATATATATATATATATA TATATATATATATAT	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16			chr18	TogoVar
PHLPP2_chr16_71639924_71729701	71719964	A A	ATTTTTTT others(32): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0278 a0001c0001t0004g0278	1	324	0.0031	39	c.-7+ others(54): Show c.-7+4364_-7+4365insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	PHLPP2	ENSG00000040199.18	transcript	ENST00000568954.5	protein_coding	1/18			chr16	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18944.hp2 NA19080.hp1 NA18944.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0116 a0001c0001t0065 a0001c0001t0116	a0001c0001t0065g0094 a0001c0001t0116g0284 a0001c0001t0065g0094 a0001c0001t0116g0284	2	322	0.0062	39	c.50 others(50): Show c.5049_*5050insAAAAAAATATATATATATATATATATATATATAT ATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIBF1_chr13_72777133_73021461	72844744	C C	CACACACA others(32): Show CACACACACACACACACACACGGATGAAGTCTTACTGTTT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0065 a0002c0002t0003g0065	1	346	0.0029	39	c.122 others(58): Show c.1224-9293_1224-9292insGGATGAAGTCTTACTGTTTACACACA CACACACACACAC	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72844746	C C	CACACACA others(32): Show CACACACACACACACACACACGGATGAAGTCTTACTGTTT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0084 a0002c0002t0007g0084	1	346	0.0029	39	c.122 others(58): Show c.1224-9291_1224-9290insGGATGAAGTCTTACTGTTTACACACA CACACACACACAC	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72844748	C C	CACACACA others(32): Show CACACACACACACACACACACGGATGAAGTCTTACTGTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0007	1	346	0.0029	39	c.122 others(58): Show c.1224-9289_1224-9288insGGATGAAGTCTTACTGTTTACACACA CACACACACACAC	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72844750	C C	CACACACA others(32): Show CACACACACACACACACACACGGATGAAGTCTTACTGTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02922.hp2 HG02895.hp1 HG02922.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0034 a0002c0005t0002g0050 a0002c0005t0002g0034 a0002c0005t0002g0050	2	346	0.0058	39	c.122 others(58): Show c.1224-9287_1224-9286insGGATGAAGTCTTACTGTTTACACACA CACACACACACAC	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72904433	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA19064.hp1 NA18955.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0147 a0001c0001t0002g0125 a0001c0001t0001g0147 a0001c0001t0002g0125	2	346	0.0058	39	c.148 others(58): Show c.1489-4073_1489-4072insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PICK1_chr22_38052404_38080701	38066382	C C	CAAAAAAT others(32): Show CAAAAAATCAATACAACGTTAAAAAAAATCTAAAAAATGA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0078 a0003c0005t0001g0078	1	428	0.0023	39	c.282 others(56): Show c.282+1252_282+1253insAAAAAATCAATACAACGTTAAAAAAAAT CTAAAAAATGA	PICK1	ENSG00000100151.16	transcript	ENST00000356976.8	protein_coding	4/12			chr22	TogoVar
PIFO_chr1_111341622_111358013	111344128	A A	AAAATTAG others(32): Show AAAATTAGTTGAGTCTCTGGATGATATCTTCAGAAAATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	440	0.0023	39	c.-25 others(50): Show c.-2525_-2524insAAATTAGTTGAGTCTCTGGATGATATCTTCAGAA AATAC	PIFO	ENSG00000173947.14	transcript	ENST00000369738.9	protein_coding		2493		chr1	TogoVar
PIGL_chr17_16212210_16331411	16320222	G G	GGAGAAAG others(32): Show GGAGAAAGAGACAGAGAGAAGGAGAGAGTGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp2 HG03453.hp1 HG02451.hp2 HG02723.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0220	3	246	0.0122	39	c.660 others(56): Show c.660+2314_660+2315insGAGAAAGAGACAGAGAGAAGGAGAGAGT GAGAGAAAGAA	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding	6/6			chr17	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(32): Show AAAAAAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	384	0.0026	39	c.18 others(48): Show c.185_*186insATATATATATATATATATATATATATATATATTTTT TTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PINX1_chr8_10759961_10844875	10767815	G G	GCTCGGTG others(32): Show GCTCGGTGACCAGGCACCCTCACAGCCACACAGAGACAGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0005 a0002c0005t0001g0005	1	352	0.0028	39	c.472 others(56): Show c.472-1900_472-1899insTCTGTCTCTGTGTGGCTGTGAGGGTGCC TGGTCACCGAG	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PINX1_chr8_10759961_10844875	10767873	T T	TCAGCCAC others(32): Show TCAGCCACACAGAGACAGGCTCGGTGACCAGGCACCCTCA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	352	0.0028	39	c.472 others(56): Show c.472-1996_472-1958dupTGAGGGTGCCTGGTCACCGAGCCTGTCT CTGTGTGGCTG	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar

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Search Results (Total: 3425 hits)