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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
PFKP_chr10_3062548_3141802	3078954	AAAAGTGT others(34): Show AAAAGTGTGGTGCCCCCATCACCTGGAAATTGCTAGAAATGC	A A	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0320 a0001c0001t0003g0320	1	402	0.0025	-41	c.113 others(58): Show c.113-3431_113-3391delAGTGTGGTGCCCCCATCACCTGGAAATT GCTAGAAATGCAA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAM5_chr12_132705842_132727734	132720250	CCCCCTGG others(34): Show CCCCCTGGCACAGCCTGGCCCAGCCTCTTTTAAGGACAGAGT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0172 a0001c0004t0019g0172	1	394	0.0025	-41	c.720 others(56): Show c.720-419_720-379delACAGCCTGGCCCAGCCTCTTTTAAGGACAG AGTCCCCTGGC	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGBD5_chr1_230309490_230431332	230396231	CCCCCACA others(34): Show CCCCCACACTCCTCCCTTTTACCCCCACACTCCTCCTTTTTA	C C	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0144 a0001c0002t0144	a0001c0002t0144g0249 a0001c0002t0144g0249	1	288	0.0035	-41	c.331 others(60): Show c.331+29326_331+29366delTAAAAAGGAGGAGTGTGGGGGTAAAA GGGAGGAGTGTGGGG	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/6			chr1	TogoVar
PGM1_chr1_63588411_63665245	63633902	GTGTGTGT others(34): Show GTGTGTGTGTGTGTGTGTATATATATATATATTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02965.hp1 HG03139.hp2 others(2): Show HG02451.hp2 HG02965.hp1 HG03139.hp2 HG03209.hp1 NA19240.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0006c0007 a0003c0003 a0006c0007	a0003c0003t0003 a0006c0007t0001 a0003c0003t0003 a0006c0007t0001	a0003c0003t0003g0143 a0006c0007t0001g0231 a0006c0007t0001g0249 others(2): Show a0003c0003t0003g0143 a0006c0007t0001g0231 a0006c0007t0001g0249 a0006c0007t0001g0252 a0006c0007t0001g0273	5	366	0.0137	-41	c.683 others(56): Show c.683-925_683-885delGTGTGTGTGTGTGTGTATATATATATATAT TTTTTTTTTTT	PGM1	ENSG00000079739.17	transcript	ENST00000371084.8	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHEX_chrX_22027325_22256310	22230357	TTACTTTG others(34): Show TTACTTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03041.hp2 HG02897.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0162 a0001c0001t0119 a0001c0001t0162	a0001c0001t0119g0004 a0001c0001t0162g0024 a0001c0001t0119g0004 a0001c0001t0162g0024	2	231	0.0087	-41	c.207 others(60): Show c.2070+2747_2070+2787delTACTTTGGGCAGTATGGCCATTTTCA CGATATTGATTCTTC	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	20/21			chrX	TogoVar
PICALM_chr11_85952175_86074084	86005417	AGGCTGGG others(34): Show AGGCTGGGCACAGTGACTCACACCTGTAATCCCAAAACTTTC	A A	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18970.hp1 NA18994.hp1 others(4): Show NA18943.hp1 NA18970.hp1 NA18994.hp1 NA18998.hp1 NA19054.hp1 NA19068.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0156 a0001c0001t0001g0157 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161	7	358	0.0196	-41	c.808 others(58): Show c.808-2007_808-1967delGAAAGTTTTGGGATTACAGGTGTGAGTC ACTGTGCCCAGCC	PICALM	ENSG00000073921.18	transcript	ENST00000393346.8	protein_coding	8/19			chr11	TogoVar
PIEZO1_chr16_88710338_88790220	88713210	TGAGAGCC others(34): Show TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0065 a0065	a0065c0095 a0065c0095	a0065c0095t0001 a0065c0095t0001	a0065c0095t0001g0127 a0065c0095t0001g0127	1	282	0.0036	-41	c.23 others(52): Show c.2354_*2394delGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGG GGCTCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2127		chr16	TogoVar
PIEZO2_chr18_10665247_11154569	10795316	ATTTTATT others(34): Show ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTATTT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0002 a0005c0013t0002	a0005c0013t0002g0010 a0005c0013t0002g0010	1	158	0.0063	-41	c.152 others(58): Show c.1528-355_1528-315delAAATAATAAAATAAAATAAAATAAAATA AAATAAAATAAAA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	12/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10915927	ACACAGAG others(34): Show ACACAGAGTGCTGATTGGTGCATTTACAAACCTTGAGCTAGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp1 others(148): Show HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG03710.hp2 NA18522.hp1 NA18522.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(29): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032	a0001c0002 a0001c0003 a0001c0006 others(86): Show a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0017 a0001c0021 a0001c0024 a0001c0028 a0001c0033 a0001c0039 a0001c0040 a0001c0044 a0001c0047 a0001c0059 a0001c0065 a0001c0082 a0001c0084 a0001c0087 a0001c0088 a0002c0001 a0002c0015 a0002c0018 a0002c0023 a0002c0038 a0002c0055 a0002c0069 a0002c0071 a0002c0072 a0002c0074 a0002c0076 a0003c0009 a0003c0011 a0003c0012 a0003c0050 a0003c0063 a0004c0005 a0004c0022 a0004c0049 a0004c0073 a0004c0075 a0005c0008 a0005c0013 a0005c0046 a0005c0056 a0005c0080 a0006c0004 a0006c0077 a0007c0026 a0007c0042 a0007c0086 a0007c0090 a0008c0034 a0008c0054 a0008c0068 a0008c0070 a0009c0010 a0009c0032 a0010c0014 a0010c0041 a0011c0019 a0011c0060 a0012c0064 a0012c0078 a0012c0079 a0013c0027 a0013c0089 a0014c0036 a0014c0057 a0014c0083 a0015c0025 a0015c0085 a0016c0020 a0017c0016 a0018c0030 a0019c0029 a0020c0066 a0020c0067 a0021c0031 a0022c0035 a0023c0048 a0024c0092 a0025c0053 a0026c0061 a0027c0081 a0028c0037 a0029c0043 a0030c0091 a0031c0062 a0032c0052	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(99): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0006t0001 a0001c0007t0001 a0001c0017t0004 a0001c0021t0002 a0001c0024t0001 a0001c0028t0001 a0001c0033t0002 a0001c0039t0001 a0001c0040t0001 a0001c0044t0002 a0001c0047t0002 a0001c0059t0003 a0001c0065t0002 a0001c0082t0002 a0001c0084t0001 a0001c0087t0001 a0001c0088t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0015t0002 a0002c0018t0001 a0002c0018t0002 a0002c0023t0001 a0002c0023t0002 a0002c0038t0001 a0002c0055t0002 a0002c0069t0001 a0002c0071t0002 a0002c0072t0001 a0002c0074t0001 a0002c0076t0002 a0003c0009t0001 a0003c0009t0002 a0003c0011t0001 a0003c0012t0001 a0003c0050t0001 a0003c0063t0001 a0004c0005t0001 a0004c0005t0002 a0004c0022t0002 a0004c0049t0002 a0004c0073t0002 a0004c0075t0002 a0005c0008t0001 a0005c0013t0001 a0005c0013t0002 a0005c0046t0001 a0005c0056t0001 a0005c0080t0002 a0006c0004t0001 a0006c0004t0003 a0006c0077t0006 a0007c0026t0001 a0007c0042t0001 a0007c0086t0001 a0007c0090t0001 a0008c0034t0002 a0008c0054t0001 a0008c0068t0001 a0008c0070t0002 a0009c0010t0001 a0009c0010t0002 a0009c0032t0003 a0010c0014t0002 a0010c0041t0002 a0011c0019t0001 a0011c0060t0003 a0012c0064t0002 a0012c0078t0002 a0012c0079t0002 a0013c0027t0002 a0013c0089t0002 a0014c0036t0002 a0014c0057t0002 a0014c0083t0002 a0015c0025t0001 a0015c0085t0001 a0016c0020t0002 a0017c0016t0003 a0018c0030t0001 a0018c0030t0003 a0019c0029t0002 a0020c0066t0002 a0020c0067t0001 a0021c0031t0001 a0022c0035t0001 a0023c0048t0001 a0024c0092t0002 a0025c0053t0002 a0026c0061t0008 a0027c0081t0002 a0028c0037t0002 a0029c0043t0002 a0030c0091t0001 a0031c0062t0001 a0032c0052t0001	a0001c0002t0001g0096 a0001c0002t0001g0108 a0001c0002t0001g0128 others(148): Show a0001c0002t0001g0096 a0001c0002t0001g0108 a0001c0002t0001g0128 a0001c0002t0001g0155 a0001c0002t0002g0091 a0001c0003t0001g0118 a0001c0003t0002g0029 a0001c0003t0002g0147 a0001c0003t0003g0102 a0001c0006t0001g0099 a0001c0006t0001g0115 a0001c0006t0001g0138 a0001c0007t0001g0041 a0001c0007t0001g0100 a0001c0007t0001g0113 a0001c0007t0001g0121 a0001c0017t0004g0142 a0001c0017t0004g0143 a0001c0021t0002g0088 a0001c0021t0002g0093 a0001c0024t0001g0156 a0001c0028t0001g0031 a0001c0028t0001g0126 a0001c0033t0002g0035 a0001c0039t0001g0004 a0001c0040t0001g0106 a0001c0044t0002g0073 a0001c0047t0002g0144 a0001c0059t0003g0110 a0001c0065t0002g0003 a0001c0082t0002g0092 a0001c0084t0001g0074 a0001c0087t0001g0033 a0001c0088t0001g0130 a0002c0001t0001g0011 a0002c0001t0001g0038 a0002c0001t0001g0043 a0002c0001t0001g0055 a0002c0001t0001g0057 a0002c0001t0001g0063 a0002c0001t0001g0087 a0002c0001t0001g0117 a0002c0001t0001g0135 a0002c0001t0001g0158 a0002c0001t0002g0039 a0002c0001t0002g0040 a0002c0001t0002g0146 a0002c0001t0002g0151 a0002c0001t0005g0008 a0002c0001t0005g0094 a0002c0015t0002g0107 a0002c0015t0002g0145 a0002c0018t0001g0026 a0002c0018t0002g0068 a0002c0023t0001g0021 a0002c0023t0002g0103 a0002c0038t0001g0024 a0002c0055t0002g0140 a0002c0069t0001g0136 a0002c0071t0002g0125 a0002c0072t0001g0044 a0002c0074t0001g0028 a0002c0076t0002g0111 a0003c0009t0001g0052 a0003c0009t0001g0083 a0003c0009t0002g0131 a0003c0011t0001g0034 a0003c0011t0001g0054 a0003c0011t0001g0070 a0003c0012t0001g0032 a0003c0012t0001g0053 a0003c0012t0001g0098 a0003c0050t0001g0056 a0003c0063t0001g0030 a0004c0005t0001g0137 a0004c0005t0002g0006 a0004c0005t0002g0045 a0004c0005t0002g0080 a0004c0022t0002g0042 a0004c0022t0002g0085 a0004c0049t0002g0101 a0004c0073t0002g0062 a0004c0075t0002g0072 a0005c0008t0001g0023 a0005c0008t0001g0027 a0005c0008t0001g0157 a0005c0013t0001g0022 a0005c0013t0001g0049 a0005c0013t0002g0010 a0005c0046t0001g0129 a0005c0056t0001g0061 a0005c0080t0002g0089 a0006c0004t0001g0120 a0006c0004t0001g0152 a0006c0004t0003g0084 a0006c0004t0003g0149 a0006c0077t0006g0001 a0007c0026t0001g0007 a0007c0026t0001g0065 a0007c0042t0001g0020 a0007c0086t0001g0009 a0007c0090t0001g0134 a0008c0034t0002g0069 a0008c0054t0001g0077 a0008c0068t0001g0153 a0008c0070t0002g0127 a0009c0010t0001g0076 a0009c0010t0002g0075 a0009c0010t0002g0154 a0009c0032t0003g0086 a0010c0014t0002g0005 a0010c0014t0002g0013 a0010c0014t0002g0124 a0010c0041t0002g0012 a0011c0019t0001g0104 a0011c0019t0001g0105 a0011c0060t0003g0078 a0012c0064t0002g0059 a0012c0078t0002g0141 a0012c0079t0002g0122 a0013c0027t0002g0017 a0013c0027t0002g0048 a0013c0089t0002g0060 a0014c0036t0002g0037 a0014c0057t0002g0112 a0014c0083t0002g0132 a0015c0025t0001g0050 a0015c0025t0001g0082 a0015c0085t0001g0064 a0016c0020t0002g0081 a0016c0020t0002g0114 a0017c0016t0003g0015 a0017c0016t0003g0090 a0018c0030t0001g0079 a0018c0030t0003g0025 a0019c0029t0002g0058 a0019c0029t0002g0116 a0020c0066t0002g0119 a0020c0067t0001g0051 a0021c0031t0001g0066 a0022c0035t0001g0014 a0023c0048t0001g0047 a0024c0092t0002g0046 a0025c0053t0002g0067 a0026c0061t0008g0109 a0027c0081t0002g0095 a0028c0037t0002g0133 a0029c0043t0002g0036 a0030c0091t0001g0019 a0031c0062t0001g0016 a0032c0052t0001g0097	151	158	0.9557	-41	c.287 others(58): Show c.287-4740_287-4700delACTAGCTCAAGGTTTGTAAATGCACCAA TCAGCACTCTGTG	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	3/55			chr18	TogoVar
PIGU_chr20_34555542_34682092	34631742	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	320	0.0031	-41	c.529 others(58): Show c.529+2832_529+2872delTATATATATATATATATATATATATATA TATATATATATAT	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIGU_chr20_34555542_34682092	34631749	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	320	0.0031	-41	c.529 others(58): Show c.529+2825_529+2865delAAAAATATATATATATATATATATATAT ATATATATATATA	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIGU_chr20_34555542_34682092	34631763	ATATATAT others(34): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18973.hp1 NA18984.hp1 HG02056.hp2 NA18973.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0082	3	320	0.0094	-41	c.529 others(58): Show c.529+2811_529+2851delAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATA	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIGU_chr20_34555542_34682092	34631765	ATATATAT others(34): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	320	0.0031	-41	c.529 others(58): Show c.529+2809_529+2849delAAAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATA	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIGZ_chr3_196941356_196973833	196970432	ATGCCCGG others(34): Show ATGCCCGGCTCAGTTCCATGACTTCTGACACGCGAAACCACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	424	0.0024	-41	c.-17 others(52): Show c.-1787_-1747delGGTGGTTTCGCGTGTCAGAAGTCATGGAACTGAG CCGGGCA	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding		1600		chr3	TogoVar
PIK3CB_chr3_138647698_138839928	138693936	AATATATA others(34): Show AATATATATATATATATATATATATATATATTATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp2 HG01106.hp1 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0164 a0001c0001t0001g0148 a0001c0001t0001g0164	2	206	0.0097	-41	c.189 others(58): Show c.1892+809_1892+849delATATATATATAATATATATATATATATA TATATATATATAT	PIK3CB	ENSG00000051382.9	transcript	ENST00000674063.1	protein_coding	14/23			chr3	TogoVar
PIK3R6_chr17_8797722_8872674	8827742	GGAGAGAG others(34): Show GGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02976.hp1 HG03195.hp1 HG02970.hp2 HG02976.hp1 HG03195.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0004 a0001c0005 a0003c0004	a0001c0005t0001 a0003c0004t0001 a0001c0005t0001 a0003c0004t0001	a0001c0005t0001g0341 a0003c0004t0001g0206 a0003c0004t0001g0218 a0001c0005t0001g0341 a0003c0004t0001g0206 a0003c0004t0001g0218	3	354	0.0085	-41	c.139 others(58): Show c.1392+329_1392+369delTCTCTCTCTCTCTCTCTCTCCTCTCTCT CTCTCTCTCTCTC	PIK3R6	ENSG00000276231.5	transcript	ENST00000619866.5	protein_coding	12/19			chr17	TogoVar
PIKFYVE_chr2_208261255_208363746	208264088	AAGATGTG others(34): Show AAGATGTGCTCAAAAGGTAATGGAGGCATGTCAAATGGACTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	288	0.0035	-41	c.-23 others(52): Show c.-2336_-2296delAGATGTGCTCAAAAGGTAATGGAGGCATGTCAAA TGGACTC	PIKFYVE	ENSG00000115020.17	transcript	ENST00000264380.9	protein_coding		2166		chr2	TogoVar
PIWIL1_chr12_130332887_130377637	130338422	GGGGGCGA others(34): Show GGGGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0083 a0001c0002t0003g0083	1	425	0.0024	-41	c.-13 others(56): Show c.-13+281_-13+321delCGAGGTCCCAGGTGCGGGAGATGCAGGAGC CGGGTGCGGGG	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIWIL1_chr12_130332887_130377637	130338464	GGGGGCGA others(34): Show GGGGGCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGGTGC	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0333 a0001c0002t0028g0333	1	425	0.0024	-41	c.-13 others(56): Show c.-13+323_-13+363delCGAGGTCCCAGGTGTGGGAGATGCAGGAGC CGGGTGCGGGG	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIWIL1_chr12_130332887_130377637	130338548	GGGGGCGA others(34): Show GGGGGCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGGTGC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA18947.hp1 HG01361.hp2 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0234 a0001c0001t0023g0233 a0001c0001t0001g0234 a0001c0001t0023g0233	2	425	0.0047	-41	c.-13 others(56): Show c.-13+407_-13+447delCGAGGTCCCAGGTGTGGGAGATGCAGGAGC CGGGTGCGGGG	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIWIL1_chr12_130332887_130377637	130338590	GGGGGCGA others(34): Show GGGGGCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGGTGC	G G	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	425	0.0024	-41	c.-13 others(56): Show c.-13+449_-13+489delCGAGGTCCCAGGTGCGGGGGATGCAGGAGC CGGGTGCGGGG	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PKD2L1_chr10_100283149_100335228	100314993	AGGAAGGA others(34): Show AGGAAGGAAGGAAGGAAGGAAGGGAAGGGAAGGGAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	306	0.0033	-41	c.349 others(60): Show c.349+14177_349+14217delCTTCCCTTCCCTTCCCTTCCCTTCCT TCCTTCCTTCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKHD1_chr6_51610299_52092613	51791953	AAGCTATC others(34): Show AAGCTATCTCTAATTCCCTAAGTCCCATTGTGTAAGGTAAAG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0009 a0009	a0009c0056 a0009c0056	a0009c0056t0001 a0009c0056t0001	a0009c0056t0001g0073 a0009c0056t0001g0073	1	134	0.0075	-41	c.830 others(58): Show c.8303-621_8303-581delCTTTACCTTACACAATGGGACTTAGGGA ATTAGAGATAGCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	52/66			chr6	TogoVar
PLA2G5_chr1_20065194_20096911	20087511	AGTCTCCC others(34): Show AGTCTCCCAAGTAGCATATACGTTTTTTTTTTATACACATGG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	430	0.0023	-41	c.185 others(58): Show c.185+1286_185+1326delTCTCCCAAGTAGCATATACGTTTTTTTT TTATACACATGGG	PLA2G5	ENSG00000127472.11	transcript	ENST00000375108.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLCXD1_chrX_276381_308356	298102	GTCTATCA others(34): Show GTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18988.hp1 HG02080.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0019 a0001c0001t0005 a0001c0002t0019	a0001c0001t0005g0038 a0001c0002t0019g0130 a0001c0001t0005g0038 a0001c0002t0019g0130	2	176	0.0114	-41	c.734 others(56): Show c.734-993_734-953delCTATCACATGGGGATTAGGACGTGGACATC TTTGGGGACAT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298151	GTCTATCA others(34): Show GTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0161 a0001c0001t0066g0161	1	176	0.0057	-41	c.734 others(56): Show c.734-944_734-904delCTATCACATGGGGATTAGGACGTGGACATC TTTGGGGACAT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298249	GTCTATCA others(34): Show GTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACA	G G	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0076 a0001c0002t0076	a0001c0002t0076g0107 a0001c0002t0076g0107	1	176	0.0057	-41	c.734 others(56): Show c.734-846_734-806delCTATCACATGGGGATTAGGACGTGGACATC TTTGGGGACAT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLD1_chr3_171595404_171815483	171764920	GAAAGGAA others(34): Show GAAAGGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01516.hp1 HG00621.hp2 HG01516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0015 a0002c0003t0003 a0002c0003t0015	a0002c0003t0003g0158 a0002c0003t0015g0040 a0002c0003t0003g0158 a0002c0003t0015g0040	2	294	0.0068	-41	c.-31 others(60): Show c.-31-26879_-31-26839delTTTCTTTCTTTCTTTCTTTCTTTCTT TCCTTTCTTTCCTTT	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLEK2_chr14_67381984_67417165	67398551	TACCCTTC others(34): Show TACCCTTCTCTTTATTCCTGCCACCTGAGAACCACCTAAACG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp1 others(114): Show HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01358.hp1 HG01496.hp2 HG01884.hp1 HG01928.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03491.hp2 HG03540.hp2 HG03654.hp1 HG03831.hp1 HG03927.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18970.hp1 NA18975.hp1 NA18977.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0009 a0002c0003 others(2): Show a0001c0001 a0001c0009 a0002c0003 a0005c0006 a0007c0010	a0001c0001t0001 a0001c0009t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0009t0001 a0002c0003t0001 a0005c0006t0001 a0007c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0012 others(76): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0052 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0009t0001g0142 a0002c0003t0001g0030 a0002c0003t0001g0101 a0005c0006t0001g0098 a0007c0010t0001g0122	117	354	0.3305	-41	c.43- others(54): Show c.43-766_43-726delCGTTTAGGTGGTTCTCAGGTGGCAGGAATAAA GAGAAGGGT	PLEK2	ENSG00000100558.9	transcript	ENST00000216446.9	protein_coding	1/8			chr14	TogoVar
PLEK2_chr14_67381984_67417165	67399404	CTCAGGTG others(34): Show CTCAGGTGGCAGGAATAAAGAGAAGGGTAGTTTAGGTGGCTG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG03688.hp1 HG00735.hp1 HG00741.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0209 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0209	3	354	0.0085	-41	c.43- others(56): Show c.43-1619_43-1579delCAGCCACCTAAACTACCCTTCTCTTTATTC CTGCCACCTGA	PLEK2	ENSG00000100558.9	transcript	ENST00000216446.9	protein_coding	1/8			chr14	TogoVar
PLEK2_chr14_67381984_67417165	67399566	GTCAGGTG others(34): Show GTCAGGTGGCAGGAATAAAGAGAAGGGTAGTTTAGGTGGTTC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp1 others(112): Show HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01358.hp1 HG01496.hp2 HG01884.hp1 HG01928.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03831.hp1 HG03927.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18970.hp1 NA18975.hp1 NA18977.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0002c0003 a0005c0006 others(1): Show a0001c0001 a0002c0003 a0005c0006 a0007c0010	a0001c0001t0001 a0002c0003t0001 a0005c0006t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0005c0006t0001 a0007c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0012 others(73): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0052 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0165 a0002c0003t0001g0030 a0002c0003t0001g0101 a0005c0006t0001g0098 a0007c0010t0001g0122	115	354	0.3249	-41	c.43- others(56): Show c.43-1781_43-1741delGAACCACCTAAACTACCCTTCTCTTTATTC CTGCCACCTGA	PLEK2	ENSG00000100558.9	transcript	ENST00000216446.9	protein_coding	1/8			chr14	TogoVar
PLEK2_chr14_67381984_67417165	67399646	TTCTCAGG others(34): Show TTCTCAGGTGGCAGGAATAAAGAGAAGGGTGGTTTAGGTGGG	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02723.hp1 HG02886.hp1 others(3): Show HG01074.hp1 HG02723.hp1 HG02886.hp1 HG02976.hp1 HG03098.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0024 a0001c0001t0001g0050 a0001c0001t0001g0073 others(2): Show a0001c0001t0001g0024 a0001c0001t0001g0050 a0001c0001t0001g0073 a0001c0001t0001g0171 a0001c0002t0001g0229	6	354	0.0170	-41	c.43- others(56): Show c.43-1861_43-1821delCCCACCTAAACCACCCTTCTCTTTATTCCT GCCACCTGAGA	PLEK2	ENSG00000100558.9	transcript	ENST00000216446.9	protein_coding	1/8			chr14	TogoVar
PLEK2_chr14_67381984_67417165	67399717	GGTTTAGG others(34): Show GGTTTAGGTGGGTCTCAGGTGGCAGGAATAAAGAGAAGGGTA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	354	0.0028	-41	c.43- others(56): Show c.43-1932_43-1892delTACCCTTCTCTTTATTCCTGCCACCTGAGA CCCACCTAAAC	PLEK2	ENSG00000100558.9	transcript	ENST00000216446.9	protein_coding	1/8			chr14	TogoVar
PLEKHA7_chr11_16772297_17019414	16907406	CGGCCAGC others(34): Show CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG03209.hp1 HG01168.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0107 a0001c0001t0003g0155 a0001c0001t0001g0107 a0001c0001t0003g0155	2	244	0.0082	-41	c.222 others(60): Show c.222-36265_222-36225delAGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCC	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26			chr11	TogoVar
PLEKHA8_chr7_30023412_30089650	30056319	TATATATA others(34): Show TATATATATATATAAATAACATATATATAATATATATAACAC	T T	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA19079.hp1 NA18990.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0180 a0001c0002t0003g0182 a0001c0002t0003g0180 a0001c0002t0003g0182	2	234	0.0086	-41	c.103 others(59): Show c.1039+989_1039+1029delTAAATAACATATATATAATATATATAA CACATATATATATA	PLEKHA8	ENSG00000106086.21	transcript	ENST00000449726.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
PLEKHF2_chr8_95128785_95161685	95133664	CGCGAGGG others(34): Show CGCGAGGGGCGGGGCGAGGGAACTGGCAAGAAAGGGCGGGGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	384	0.0026	-41	c.-38 others(50): Show c.-380_-340delGCGAGGGGCGGGGCGAGGGAACTGGCAAGAAAGGGC GGGGA	PLEKHF2	ENSG00000175895.5	transcript	ENST00000315367.4	protein_coding		120		chr8	TogoVar
PLEKHG3_chr14_64699424_64755249	64716481	AACACACA others(34): Show AACACACACACACACAACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19030.hp1 HG02622.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0072 a0001c0002t0073 a0001c0002t0072 a0001c0002t0073	a0001c0002t0072g0065 a0001c0002t0073g0067 a0001c0002t0072g0065 a0001c0002t0073g0067	2	248	0.0081	-41	c.-39 others(60): Show c.-39-11096_-39-11056delACACACACACACACACACACACACAC ACACACACACACACA	PLEKHG3	ENSG00000126822.18	transcript	ENST00000247226.13	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr14	TogoVar
PLEKHS1_chr10_113746682_113788429	113785331	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02896.hp2 HG02897.hp2 others(4): Show HG02622.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03139.hp2 HG03453.hp1 NA18965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0013 a0001c0001t0023 a0002c0002t0002 a0001c0001t0013 a0001c0001t0023 a0002c0002t0002	a0001c0001t0013g0056 a0001c0001t0013g0057 a0001c0001t0013g0140 others(3): Show a0001c0001t0013g0056 a0001c0001t0013g0057 a0001c0001t0013g0140 a0001c0001t0023g0102 a0002c0002t0002g0051 a0002c0002t0002g0107	7	402	0.0174	-41	c.45 others(52): Show c.4551_*4591delATATATATATATATATATATATATATATATATAT ATATATA	PLEKHS1	ENSG00000148735.16	transcript	ENST00000694986.1	protein_coding		1903		chr10	TogoVar
PLGRKT_chr9_5352971_5442925	5424417	TATAATAT others(34): Show TATAATATATAACATATTATAAAATATATTATATATTATAAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01169.hp2 HG00280.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0255 a0001c0001t0001g0229 a0001c0001t0001g0255	2	414	0.0048	-41	c.81+ others(56): Show c.81+7439_81+7479delGTTATAATATATAATATATTTTATAATATG TTATATATTAT	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5			chr9	TogoVar
PLOD3_chr7_101200984_101222581	101217002	CAGGGTAG others(34): Show CAGGGTAGTGATGGGCGAGGGGCTTGGCGCGACTCAGCCTCA	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	428	0.0023	-41	c.109 others(56): Show c.109+123_109+163delTGAGGCTGAGTCGCGCCAAGCCCCTCGCCC ATCACTACCCT	PLOD3	ENSG00000106397.12	transcript	ENST00000223127.8	protein_coding	1/18			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132188989	GAAAGGAG others(34): Show GAAAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0015 a0001c0029t0001g0015	1	88	0.0114	-41	c.285 others(60): Show c.2857-1423_2857-1383delTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCCTTT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	14/31			chr7	TogoVar
PLXNB2_chr22_50269979_50312646	50285573	AGCCGGCA others(34): Show AGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0075 a0003c0001t0001g0075	1	302	0.0033	-41	c.208 others(58): Show c.2088+186_2088+226delCGGTGACAGGCAGGCTCAGGTGCGGAGG GAGGGGTGCCGGC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	11/36			chr22	TogoVar
PNMA8B_chr19_46486191_46500867	46488499	TCATCCTG others(34): Show TCATCCTGCCCTCCTCTCTACAGAGCCAATAAAGACGCACAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0000 a0001c0001t0018g0000	1	426	0.0024	-41	c.50 others(52): Show c.5018_*5058delCTGTGCGTCTTTATTGGCTCTGTAGAGAGGAGGG CAGGATG	PNMA8B	ENSG00000204851.7	transcript	ENST00000599531.2	protein_coding		2691		chr19	TogoVar
POF1B_chrX_85272396_85384665	85380006	GCAAAGGT others(34): Show GCAAAGGTAGTTACCAGCATAAGTATTATTATTCCAGATTCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01167.hp1 HG01169.hp2 others(8): Show HG00738.hp1 HG01167.hp1 HG01169.hp2 HG02451.hp1 HG02602.hp1 HG02630.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG03225.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0004t0003	a0001c0001t0001g0186 a0001c0001t0003g0187 a0001c0001t0013g0170 others(7): Show a0001c0001t0001g0186 a0001c0001t0003g0187 a0001c0001t0013g0170 a0001c0004t0003g0010 a0001c0004t0003g0201 a0001c0004t0003g0202 a0001c0004t0003g0203 a0001c0004t0003g0204 a0001c0004t0003g0205 a0001c0004t0003g0206	11	227	0.0485	-41	c.-45 others(50): Show c.-450_-410delGGAATCTGGAATAATAATACTTATGCTGGTAACTAC CTTTG	POF1B	ENSG00000124429.18	transcript	ENST00000262753.9	protein_coding		342		chrX	TogoVar
POLRMT_chr19_612221_638537	620882	TGGGGGCG others(34): Show TGGGGGCGCCAGGGGAGGGGGAGGGGAGGAGGAAGACGGGCA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01109.hp1 HG01168.hp2 others(61): Show HG00597.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01256.hp1 HG01884.hp2 HG01978.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03834.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18942.hp2 NA18948.hp1 NA18970.hp2 NA18972.hp2 NA19007.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA20905.hp2	a0002 a0003 a0004 others(6): Show a0002 a0003 a0004 a0006 a0007 a0012 a0017 a0025 a0033	a0002c0003 a0002c0006 a0002c0013 others(14): Show a0002c0003 a0002c0006 a0002c0013 a0003c0002 a0004c0004 a0004c0012 a0004c0023 a0004c0024 a0004c0027 a0004c0029 a0004c0039 a0006c0008 a0007c0010 a0012c0017 a0017c0031 a0025c0065 a0033c0058	a0002c0003t0001 a0002c0006t0003 a0002c0013t0002 others(20): Show a0002c0003t0001 a0002c0006t0003 a0002c0013t0002 a0002c0013t0008 a0002c0013t0010 a0003c0002t0004 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0012t0002 a0004c0012t0004 a0004c0023t0002 a0004c0024t0002 a0004c0027t0002 a0004c0029t0002 a0004c0039t0002 a0006c0008t0003 a0007c0010t0002 a0007c0010t0007 a0012c0017t0002 a0017c0031t0006 a0025c0065t0002 a0033c0058t0002	a0002c0003t0001g0030 a0002c0006t0003g0295 a0002c0006t0003g0296 others(61): Show a0002c0003t0001g0030 a0002c0006t0003g0295 a0002c0006t0003g0296 a0002c0013t0002g0236 a0002c0013t0002g0270 a0002c0013t0008g0342 a0002c0013t0008g0343 a0002c0013t0010g0273 a0002c0013t0010g0274 a0003c0002t0004g0020 a0003c0002t0004g0133 a0003c0002t0004g0146 a0003c0002t0004g0158 a0004c0004t0001g0113 a0004c0004t0002g0176 a0004c0004t0002g0178 a0004c0004t0002g0180 a0004c0004t0002g0183 a0004c0004t0002g0186 a0004c0004t0002g0187 a0004c0004t0002g0188 a0004c0004t0002g0189 a0004c0004t0002g0194 a0004c0004t0002g0230 a0004c0004t0002g0232 a0004c0004t0002g0260 a0004c0004t0002g0261 a0004c0004t0002g0263 a0004c0004t0002g0264 a0004c0004t0002g0265 a0004c0004t0002g0266 a0004c0004t0003g0276 a0004c0004t0003g0277 a0004c0004t0003g0278 a0004c0004t0003g0282 a0004c0004t0003g0290 a0004c0004t0003g0291 a0004c0004t0003g0292 a0004c0012t0002g0206 a0004c0012t0002g0207 a0004c0012t0004g0167 a0004c0012t0004g0168 a0004c0023t0002g0192 a0004c0023t0002g0256 a0004c0024t0002g0177 a0004c0027t0002g0181 a0004c0027t0002g0182 a0004c0029t0002g0205 a0004c0029t0002g0208 a0004c0039t0002g0262 a0006c0008t0003g0304 a0007c0010t0002g0267 a0007c0010t0002g0268 a0007c0010t0007g0345 a0007c0010t0007g0346 a0007c0010t0007g0347 a0007c0010t0007g0348 a0012c0017t0002g0202 a0012c0017t0002g0203 a0012c0017t0002g0204 a0017c0031t0006g0340 a0017c0031t0006g0341 a0025c0065t0002g0209 a0033c0058t0002g0185	64	422	0.1517	-41	c.264 others(58): Show c.2640+135_2640+175delTGCCCGTCTTCCTCCTCCCCTCCCCCTC CCCTGGCGCCCCC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	10/20			chr19	TogoVar
POM121L12_chr7_53030633_53041925	53039390	TGGAAACA others(34): Show TGGAAACACTTAAGTAGAGTTAAACAAAACAATTCTTCTGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0000 a0004c0004t0001g0000	1	432	0.0023	-41	c.28 others(52): Show c.2829_*2869delGGAAACACTTAAGTAGAGTTAAACAAAACAATTC TTCTGAA	POM121L12	ENSG00000221900.6	transcript	ENST00000408890.6	protein_coding		2466		chr7	TogoVar
PPARGC1B_chr5_149725310_149860022	149809134	GATAGATA others(34): Show GATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACC	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02040.hp2 HG01168.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0283 a0001c0001t0015g0180 a0001c0001t0002g0283 a0001c0001t0015g0180	2	320	0.0063	-41	c.79- others(58): Show c.79-11268_79-11228delCCATCTCTACCATAGATAGATAGATAGA TAGATAGATAGAT	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149809191	GATAGATA others(34): Show GATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACC	G G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03491.hp2 NA18522.hp1 others(1): Show HG02165.hp1 HG03491.hp2 NA18522.hp1 NA19066.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0002c0014 a0014c0029 a0001c0001 a0002c0014 a0014c0029	a0001c0001t0044 a0002c0014t0005 a0014c0029t0008 a0001c0001t0044 a0002c0014t0005 a0014c0029t0008	a0001c0001t0044g0064 a0002c0014t0005g0259 a0002c0014t0005g0260 others(1): Show a0001c0001t0044g0064 a0002c0014t0005g0259 a0002c0014t0005g0260 a0014c0029t0008g0270	4	320	0.0125	-41	c.79- others(58): Show c.79-11211_79-11171delCCATCTCTACCATAGATAGATAGATAGA TAGATAGATAGAT	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149809362	GATAGATA others(34): Show GATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACC	G G	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02738.hp1 HG02965.hp2 others(1): Show HG02293.hp2 HG02738.hp1 HG02965.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0004 a0001c0006 a0005c0026 a0001c0004 a0001c0006 a0005c0026	a0001c0004t0006 a0001c0006t0001 a0005c0026t0034 a0001c0004t0006 a0001c0006t0001 a0005c0026t0034	a0001c0004t0006g0113 a0001c0004t0006g0193 a0001c0006t0001g0099 others(1): Show a0001c0004t0006g0113 a0001c0004t0006g0193 a0001c0006t0001g0099 a0005c0026t0034g0310	4	320	0.0125	-41	c.79- others(58): Show c.79-11044_79-11004delAGATCCATCTCTACCATAGATAGATAGA TAGATAGATAGAT	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149809440	CATAGATA others(34): Show CATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAG	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0100 a0001c0006t0001g0100	1	320	0.0031	-41	c.79- others(58): Show c.79-10966_79-10926delCCATCTCTACCATAGATAGATAGATAGA TAGATAGATAGAT	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar

Search by Variant

Search

Search Results (Total: 1267 hits)