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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
OSER1_chr20_44190939_44215771	44206999	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0162 a0002c0002t0004g0162	1	444	0.0023	0	c.-41 others(5): Show c.-41-1G>A		OSER1	ENSG00000132823.11	transcript	ENST00000255174.3	protein_coding	1/3					chr20	TogoVar
OTUD4_chr4_145128650_145185589	145144003	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0134 a0001c0001t0034g0134	1	346	0.0029	0	c.154 others(6): Show c.1547-2A>G		OTUD4	ENSG00000164164.17	transcript	ENST00000447906.8	protein_coding	15/20					chr4	TogoVar
OXR1_chr8_106265190_106757694	106692712	TA TA	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01256.hp2 HG02647.hp2 HG02717.hp2 others(2): Show HG01256.hp2 HG02647.hp2 HG02717.hp2 HG03041.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0093 a0001c0001t0003g0101 a0001c0002t0001g0026 others(2): Show a0001c0001t0001g0093 a0001c0001t0003g0101 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0045	5	172	0.0291	-1	c.526 others(6): Show c.526-2delA		OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	6/16				INFO_REALIGN_3_PRIME	chr8	TogoVar
PABPN1L_chr16_88858333_88871660	88864380	C C	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	452	0.0022	0	c.655 others(5): Show c.655-1G>C		PABPN1L	ENSG00000205022.9	transcript	ENST00000419291.7	protein_coding	5/6					chr16	TogoVar
PADI6_chr1_17367196_17406699	17398662	C C	CCCCACCC others(1): Show CCCCACCCA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00323.hp1 HG00408.hp2 HG00438.hp2 others(49): Show HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00673.hp2 HG00733.hp1 HG01069.hp1 HG01243.hp2 HG01346.hp2 HG01361.hp1 HG01943.hp2 HG01981.hp2 HG02132.hp1 HG02280.hp2 HG02293.hp1 HG02602.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG03486.hp1 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18947.hp2 NA18952.hp1 NA18956.hp2 NA18959.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18981.hp1 NA18987.hp2 NA18995.hp1 NA18995.hp2 NA19004.hp1 NA19011.hp1 NA19012.hp2 NA19056.hp2 NA19058.hp1 NA19077.hp2 NA19079.hp2 NA19087.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0002c0004	a0001c0001t0002 a0001c0001t0004 a0001c0002t0003 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0003t0003 a0001c0003t0004 a0001c0013t0003 a0001c0014t0003 a0001c0015t0003 a0001c0017t0003 a0002c0004t0004	a0001c0001t0002g0072 a0001c0001t0002g0254 a0001c0001t0004g0079 others(37): Show a0001c0001t0002g0072 a0001c0001t0002g0254 a0001c0001t0004g0079 a0001c0001t0004g0148 a0001c0002t0003g0002 a0001c0002t0003g0029 a0001c0002t0003g0032 a0001c0002t0003g0292 a0001c0002t0003g0301 a0001c0002t0003g0315 a0001c0002t0003g0319 a0001c0002t0003g0320 a0001c0002t0003g0321 a0001c0002t0003g0323 a0001c0002t0003g0324 a0001c0002t0003g0335 a0001c0002t0003g0336 a0001c0002t0003g0337 a0001c0002t0004g0020 a0001c0002t0005g0031 a0001c0003t0003g0333 a0001c0003t0004g0026 a0001c0003t0004g0067 a0001c0003t0004g0082 a0001c0003t0004g0087 a0001c0003t0004g0088 a0001c0003t0004g0147 a0001c0003t0004g0156 a0001c0003t0004g0157 a0001c0003t0004g0159 a0001c0003t0004g0181 a0001c0003t0004g0224 a0001c0003t0004g0229 a0001c0003t0004g0244 a0001c0003t0004g0289 a0001c0013t0003g0339 a0001c0014t0003g0317 a0001c0015t0003g0329 a0001c0017t0003g0355 a0002c0004t0004g0005	52	412	0.1262	8	c.169 others(22): Show c.1690-10_1690-3dupCCACCCAC		PADI6	ENSG00000276747.1	transcript	ENST00000619609.1	protein_coding	14/15				INFO_REALIGN_3_PRIME	chr1	TogoVar
PAGE2B_chrX_55070030_55083909	55078478	GTTTTTTT others(5424): Show GTTTTTTTTTTTTTTGCTTTCCACTTATACATACAAAATACACTTGATTT AATTCATTCTGAACTTGAACAGTCTCTTCGTTTCCTTATTCTACTAGAAA AAGTGGCATGAATTAAAAATATTGTTAATATGCCTGGAAGTCTACCTTCA GAGTTTATTCAGAGGCTAACTGGCTGTAAGCTAAAGGGTCACTCACCCTC AGGGTTCTGATATTAGTTCATCAACACGGTAGTTGTATACCTCTAGTGTC ATATGAATAAAAATCTGCTGAGTAACGGGCCCTAATTTAATATTTATTTT ATAGGTGATGCGCAACCATAGGTTTCAAGCAAGACAAATGAAGACTGAAA CCAAGAACGTTATTCTTAATCTGGAAATTTGACTGATAATATTCTCTTAA TAAAGTTTTAAGTTTTCTGCAAAGAATCCTTACACAGTTTTGTTAAATTT ATTTCTGGATCTTTAATACTCTTGAGAATTGTATCTTTTTTGAAAGTTTA AATCCTGTATTTGAGATGGTACATAGAGATAAAATGTTGGTACATTGATT TTCTATCATAGATAGATAGGAACCTGGACGCTTTCATAGGGGGATGCCAA CAGCTGCACAGATGGAAAAGGCCACCTGGGGCCAGGCATGTCCACCATGG GCTTTCCACCTCCTCGTTTTTAGCACATGCACAGTAAGAATGAAATGAGC AACATGGAGTAGCTCAGGCTGAGGACCCGCCTGCATAATAAAAGATTAGG TTGGGGGCTGCCAGAGATTCACACCCTATGCAGATGGTACACCTGGTCCT AACCGGTTGTTTGTACCCTATGTAGGTGATCAGATACTACCTCCCCACTA GCTCATCTATAAAAACCCCTGCCTTTCACTGCTGGATGGCAACCGTTTTT TCTGGGACCCCTCTCTGTAGTAGAAAGCTGTTCTCTTTGTTTCTCCTATT AACTTTCTGCTCTACACCTCACTCTTGGTGTGCCCATGTCCTTGATTTCC TTGGCTGTGAGACCAAGAACCCTGGATGTTACCCCGGACAGCGAGGCCAC TTCAATACTAGCTGTGGGTCTGTGGTATATGGCTTTTATTACATTGAAGT ATGTTCCTTCTTTCCCCGGTGTTTTGAGGGTTTGTATCATGATGAAATAT TGAGTTTTATTAAATGCTTTTCAGCATCGATCGAAATGACTATATGGTTT GTATCCTTCATTCTGTTGATAATGATTTATCACATACATTAATTTGCATA TGTTGAACCATCCTTCCATCCCGGGGATAAATCTCACTTGGTCATGATGA TGATTCTTTATAGCGTATTGTTGAATTTGATTTGCTGGTATTCTGTTGAG GATTTCTGCATCAATATTCATCAGCGGTTTTGCCCTGTAGTTTTCTTTTT CTGATGTGTCTTTGTCTGGTTTTGGTATCAGGGTAATACTGGCCTCATAG AATTAGTTTGGAAGTATTCCCTCCTCCTCTATTTTTCAAAATAGTTTGAG TAGGATTGGTATTAGTCCTTCTTTAAATGTTGGGTAGAATTCAGTAGTGA AGCCATCAGGTCTGGCGTTTCTTTACTTGAAGACTTTTATTATGGCTTTG ATCTTGTTGCTTGTTACTGGTCTGTTCAGTTTATGGATTTCTTCCTGGTT CAATCTTGGGAGGTTGTATGTATTTAGGAATTAGTCCATTTTTTTCTAGA TTTTCCAATTTATAGGCATGGAGTTTCTCATAGGAGCCAGTTATGATCCT TTGAATTTTTGCAGCATCAGTTTTGTAATGTGTCCTTTTTTATTTCTTTT TCTTTTTTCTTCTTTTTTTTTTCTCGAGACAGTCTCCTTTTATCGCCAGA CTGGAATGCAATGGCACAGTCTCAGCTCACTAGAACCTCCACCTCCAGGG TTCAAGCAATTCTCTTGCCTCAGCCACCCTAGTAGCTGGGATTACAGGCG CCTACCACCACACGTGGTTAATTTTTTGTATTTTTAGTAGAGTTGGAGTT TTGCCATGTTGGCCAGGTTGGTCTTGAGGTCCTGGCCTCAAGTGATCCAC CTGCCTCAGCCTCTCAAATCCTTTTTCATTTCTGATTTTATTTATTTGGG TTTCTCTCTTTTTTTCTTAGTTTGGCTAATGGTTTGTCAATTTTGGTTAA CTTATTAAAAAAACAACTTTTTGTGTTACTGCTCTTTTGTAGGGGTTTTT CATTTCAATTTCGTTTATTTCTGCTGGGATCTTTATTATTTCTTCTAATT TTTGGTTTGGTTTGCTCTTTCTTTGCAGCTCTTTAAGATGCATCATTAGA TTGTTTAGTTGAAATTTTTACCTGTTTTGTTGTAGGCACTTATAGCTATA AACCTCTTTCCGAGTACTGCTTTTGCTGTATCCCATCGTTTTGGTATGTT GTGTCTCCATTATCATTTGTTTCAACAACTTTTTAAATTTCCTTCTTAGC TTCTTCATTGACCCATTATTCATTCAGGAGCAGATTATTCAGTTTTCATG TATTTGTATAGTTTCCAAAATTCCTCTTGTTATTAATTTCTAGTTTTATG GCATTGTGGTCTGACAAGATCCATGATATTATTTCAGGTTTTTTTTTTTA ATGTTTTGAGACCTAACACATGGTCTTGTCCTTAAGAATGATCCACGTGC TGAGGAAAAGAACGTGTATTCTGTAGTCGTTGGATGAAATGTTCTGTAAA TATCTATTAGATCCATGTGTGTGTAGTGCAGATTAACTCTATTTTTGTTG TTGTTGTTGTTGTTGAGTTTCTGTCTGGCAGATCTGTCCAATACTGAATG TGGGTTGCTGAAGTCTCCATCTATTATTTTATTGGGGGCTATCTCTCTCT TTAGCTCTTATAGAATTTGTTTTATATATCTGCGTGCTCAAGTGTTGGGT GCATATATATTTAAAATTGTTAATATCCTTTGGATGAATTGACCCCTTTA TTATTGTATAGTGACCTTTAGTCTCTTCTCAAAGATTTTGTTTTGAAATC TATTTTTTTCTTATTCTTTTTGTATCTTTTAAGTTCAGGCATACATGTGG TGCAGGTTTGTTATACAGGTGAACTTGTGTCATGGGGGTTTGTTGTACAG ATTATTTTGTCGCCCAGGTATTAAGCCTGGTACTCATGAGCTATTTTTTC CTGATCCTCTCCCTCCTCCCATCCTCCACTCTTTGGTGGGCCCCAGTGTC TGTTGTTCTCCTCTGTGTGTTTATTTTTTCCCATTTATAGCTTCCACTTA TAAGTGAGAACATGCAGTATTTAGTTTTCTGTTCATGCATTACTTTGCTA AGTATAATGACCTCCAGCTCCATCCATGTTCTGGCCACGGAGATAATGTC ATTTCGTTTTTATGGCTGCATCCTATTCCATGGTATATATGTACTCCATT TTCTTTATCCAGTCTACCATCGATGGGCTTTTTGGTTGATTCCATATCTT TGGTATTGTGAATAGTGCTGCAGTGAACATATGCGTACATGGGTCTTTAT GACAGAACAGTTTATATCCCTTTGGCTGTATACCCAGTAATGGGATTGCT TGGATGGAATGGTAGTTTTGCTTTTAGGTCTCTGGGGAATCAGCACACTG TTTCCTACAATGGTTGAACTAATTTAAGTTCTACCAACAGTGAATAAGTG TTTTTCTCCACAATGTCACCAGCATCTGTTATTTTGTTCTATTTTAGTTT TTTTACTTTTTAATAATAGCCATTCTGACTGGTGTGAGATGATATGTCAT TGTGATTTGAATTGCACTTCTCCAATGATCAGTGGCTTTGAAAGCTAGTT TTGTATTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAAC TCCAGCTTTTTTTTTTCTGCTTTTCATTTACTTGGTCAGTATTCCTCCAT CCCTTTATTTTGAGCCTGTGTGTCCTTTGCACGTGTGATGGGTCTTCTGT ATCTGTCACACCGATGGGTCTTGACTTTTTATCCAATGTACCAGTCTGTG TGTTTTAATTGGGGCGTTTCTCCCATTTACATTTAAGATTAATATTGTTA TGTGTGAATTTGATTCTGTCATCATGATGCTAGCTGGTTATTTTGCACAT TAGTTGATGCAGTATCTTCATAGTGTTGTTTGTCTTCATTTTTTTGTTTG TTTTTGCAGTGGCTGGTACTGCTTTCTCCTTTTCATATTTAGTGCTTTCT TCAGGAGCTCTTGTAAGGCAGGCCTGACGGTGACAAAATCCCTCAGCATT TGCTGTTCTGGAAAGGATTTTGTTTCTCCTTCCCTTACGAAGCTTAGTTT GGCCGGATATGAAATTCTGGGTTGAAAATTCTGTCTTTAGGCTGAGACAA TGGAGTTTTCTAGATATGCAATCATGTCGTCTGCAAACAGGGACAAGTTG ACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTAAT TGCCCTGGCCAGAACTTCCAACACTGTGTTGAATAGGAGTAGTGAGAGAG GGCATCCCTGTCTTGTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGC CCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTAT TTTGAGATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATGA AGGGTTATTGAATTTTGTCAAAGGCCTTTGCTGCATCTATTGAGATAATC ATGTGGTTTTTGTCTTTGGTTCTGTTTATATGCTGGATTACATTTATTGA TTTGCATATATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGAT CATGCTGGATAAGCTTTTTGATGTGCTGCTGGATTTGGTTTGCCAGTATT TTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAATT CTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGGATGATGCTGG CCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTCATTGGAAT AGTTTCATAAGGGATGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTC GGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAGCTATTGA TTATTGCCACAATTTCAGAGCCTGTTATTGGTCTATTCAGAGATTCAGCT TCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATTTATCCAT TTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTC TGAGGGTAGTTTGTATTTCTGTGGGATTGGTGGTGATATCCCCTTTATCA TTTTTTATTGCATCTATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCT TGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGG ATTCATTAATTTTTTGAAGGGTTTTTTTGGTC	G G	exon_loss_variant others(5): Show exon_loss_variant splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG02257.hp1 HG02257.hp1	a0000 a0000	a0000c0006 a0000c0006	a0000c0006t0003 a0000c0006t0003	a0000c0006t0003g0033 a0000c0006t0003g0033	1	325	0.0031	-5431	c.320 others(13): Show c.320-303_*5111del		PAGE2B	ENSG00000238269.9	transcript	ENST00000374971.2	protein_coding	5/5					chrX	TogoVar
PAK2_chr3_196734857_196837647	196820350	C C	CTGTTT CTGTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00544.hp1 HG01070.hp2 HG01496.hp1 others(9): Show HG00544.hp1 HG01070.hp2 HG01496.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp2 NA18940.hp2 NA18971.hp1 NA18980.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0008 a0001c0001t0062 others(2): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0062 a0001c0003t0006 a0001c0003t0008	a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0001t0062g0087 others(9): Show a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0001t0062g0087 a0001c0003t0006g0015 a0001c0003t0006g0066 a0001c0003t0006g0067 a0001c0003t0006g0069 a0001c0003t0006g0125 a0001c0003t0008g0028 a0001c0003t0008g0063 a0001c0003t0008g0064 a0001c0003t0008g0065	12	178	0.0674	5	c.115 others(18): Show c.1154-7_1154-3dupTTTGT		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	12/14				INFO_REALIGN_3_PRIME	chr3	TogoVar
PALD1_chr10_70473767_70573450	70529208	G G	GC GC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00609.hp1 others(47): Show HG00280.hp1 HG00280.hp2 HG00609.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01109.hp1 HG01258.hp1 HG01884.hp2 HG01943.hp1 HG01981.hp2 HG02004.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp2 HG02698.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03579.hp2 HG03654.hp2 HG03831.hp2 HG03927.hp2 HG04199.hp2 NA18939.hp2 NA18941.hp2 NA18945.hp2 NA18954.hp1 NA18969.hp1 NA18980.hp1 NA18980.hp2 NA18990.hp1 NA19000.hp2 NA19007.hp1 NA19010.hp1 NA19043.hp2 NA19079.hp2 NA19240.hp2 NA20905.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0022	a0001c0001 a0001c0004 a0003c0003 others(4): Show a0001c0001 a0001c0004 a0003c0003 a0004c0005 a0004c0032 a0005c0009 a0022c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0022 a0001c0001t0024 a0001c0004t0010 a0001c0004t0018 a0001c0004t0045 a0003c0003t0001 a0003c0003t0003 a0003c0003t0024 a0003c0003t0049 a0004c0005t0009 a0004c0032t0015 a0005c0009t0004 a0022c0027t0009	a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0050 others(47): Show a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0115 a0001c0001t0001g0136 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0002g0018 a0001c0001t0002g0045 a0001c0001t0002g0064 a0001c0001t0002g0090 a0001c0001t0002g0147 a0001c0001t0002g0283 a0001c0001t0002g0290 a0001c0001t0003g0200 a0001c0001t0004g0194 a0001c0001t0005g0055 a0001c0001t0005g0114 a0001c0001t0005g0135 a0001c0001t0005g0295 a0001c0001t0011g0040 a0001c0001t0011g0260 a0001c0001t0011g0261 a0001c0001t0012g0258 a0001c0001t0017g0280 a0001c0001t0017g0282 a0001c0001t0022g0143 a0001c0001t0024g0023 a0001c0004t0010g0293 a0001c0004t0018g0241 a0001c0004t0018g0242 a0001c0004t0045g0272 a0003c0003t0001g0121 a0003c0003t0003g0036 a0003c0003t0003g0098 a0003c0003t0003g0107 a0003c0003t0003g0163 a0003c0003t0003g0177 a0003c0003t0024g0141 a0003c0003t0049g0037 a0004c0005t0009g0248 a0004c0032t0015g0275 a0005c0009t0004g0111 a0022c0027t0009g0292	50	308	0.1623	1	c.186 others(6): Show c.186-3dupC		PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	2/19				INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70529208	G G	GCC GCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00621.hp1 HG00642.hp2 others(23): Show HG00140.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01516.hp1 HG02004.hp2 HG02257.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02735.hp2 HG03834.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp2 NA18612.hp1 NA18950.hp1 NA18964.hp1 NA18971.hp1 NA18983.hp2 NA19000.hp1 NA19065.hp2 NA19066.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0017 a0023	a0001c0001 a0003c0003 a0005c0009 others(2): Show a0001c0001 a0003c0003 a0005c0009 a0017c0028 a0023c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0017 a0001c0001t0019 a0001c0001t0025 a0001c0001t0040 a0003c0003t0003 a0003c0003t0050 a0005c0009t0004 a0017c0028t0011 a0023c0031t0001	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0046 others(23): Show a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0046 a0001c0001t0001g0119 a0001c0001t0001g0134 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0002g0016 a0001c0001t0002g0042 a0001c0001t0002g0062 a0001c0001t0002g0068 a0001c0001t0002g0077 a0001c0001t0002g0173 a0001c0001t0008g0221 a0001c0001t0017g0254 a0001c0001t0019g0148 a0001c0001t0025g0247 a0001c0001t0040g0001 a0003c0003t0003g0212 a0003c0003t0050g0058 a0005c0009t0004g0053 a0005c0009t0004g0112 a0005c0009t0004g0152 a0017c0028t0011g0263 a0023c0031t0001g0159	26	308	0.0844	2	c.186 others(13): Show c.186-4_186-3dupCC		PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	2/19				INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70529208	G G	GCCCCCCC others(3): Show GCCCCCCCCCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0095 a0001c0006t0003g0095	1	308	0.0033	10	c.186 others(22): Show c.186-12_186-3dupCCCCCCCCCC		PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	2/19				INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70529208	G G	GCCCCCCC others(4): Show GCCCCCCCCCCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01071.hp1 NA19240.hp1 NA20129.hp1 HG01071.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0014 a0001c0001 a0001c0006 a0001c0014	a0001c0001t0015 a0001c0006t0003 a0001c0014t0043 a0001c0001t0015 a0001c0006t0003 a0001c0014t0043	a0001c0001t0015g0229 a0001c0006t0003g0080 a0001c0014t0043g0265 a0001c0001t0015g0229 a0001c0006t0003g0080 a0001c0014t0043g0265	3	308	0.0097	11	c.186 others(23): Show c.186-13_186-3dupCCCCCCCCCCC		PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	2/19				INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70529208	G G	GCCCCCCC others(5): Show GCCCCCCCCCCCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00639.hp2 HG02735.hp1 HG00639.hp2 HG02735.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0016 a0001c0006t0003 a0001c0006t0016	a0001c0006t0003g0154 a0001c0006t0016g0234 a0001c0006t0003g0154 a0001c0006t0016g0234	2	308	0.0065	12	c.186 others(24): Show c.186-14_186-3dupCCCCCCCCCCCC		PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	2/19				INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70529208	G G	GCCCCCCC others(8): Show GCCCCCCCCCCCCCCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0011 a0001c0014t0011	a0001c0014t0011g0266 a0001c0014t0011g0266	1	308	0.0033	15	c.186 others(27): Show c.186-17_186-3dupCCCCCCCCCCCCCCC		PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	2/19				INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70529208	G G	GCCCCCCC others(10): Show GCCCCCCCCCCCCCCCCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0067 a0001c0006t0003g0067	1	308	0.0033	17	c.186 others(29): Show c.186-19_186-3dupCCCCCCCCCCCCCCCCC		PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	2/19				INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70529208	G G	GCCCCCCC others(11): Show GCCCCCCCCCCCCCCCCCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0117 a0001c0006t0003g0117	1	308	0.0033	18	c.186 others(30): Show c.186-20_186-3dupCCCCCCCCCCCCCCCCCC		PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	2/19				INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70529208	G G	GCCCCCCC others(12): Show GCCCCCCCCCCCCCCCCCCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02717.hp2 HG02717.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0042 a0005c0015t0042	a0005c0015t0042g0264 a0005c0015t0042g0264	1	308	0.0033	19	c.186 others(30): Show c.186-3_186-2insCCCCCCCCCCCCCCCCCCC		PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	2/19				INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70529208	G G	GCCCCCCC others(14): Show GCCCCCCCCCCCCCCCCCCCCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02723.hp2 HG02723.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0014 a0005c0015t0014	a0005c0015t0014g0249 a0005c0015t0014g0249	1	308	0.0033	21	c.186 others(32): Show c.186-3_186-2insCCCCCCCCCCCCCCCCCCCCC		PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	2/19				INFO_REALIGN_3_PRIME	chr10	TogoVar
PANK3_chr5_168543495_168584368	168559157	T T	TCTAAAAG others(14): Show TCTAAAAGAAAAGAACAAAGAA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0248 a0001c0001t0026g0248	1	416	0.0024	21	c.937 others(33): Show c.937-21_937-1dupTTCTTTGTTCTTTTCTTTTAG		PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	5/6					chr5	TogoVar
PARP2_chr14_20338635_20362904	20357636	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	420	0.0024	0	c.155 others(6): Show c.1554-2A>G		PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	15/15					chr14	TogoVar
PARP4_chr13_24415931_24517778	24500383	C C	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18983.hp1 NA19079.hp1 NA18983.hp1 NA19079.hp1	a0018 a0018	a0018c0024 a0018c0024	a0018c0024t0001 a0018c0024t0004 a0018c0024t0001 a0018c0024t0004	a0018c0024t0001g0177 a0018c0024t0004g0007 a0018c0024t0001g0177 a0018c0024t0004g0007	2	362	0.0055	0	c.335 others(5): Show c.335-1G>C		PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	3/33					chr13	TogoVar
PATE4_chr11_125828316_125845072	125837866	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(193): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19043.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0004c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0012g0001 a0001c0001t0016g0001 a0001c0001t0017g0043 a0004c0003t0001g0001	196	424	0.4623	0	c.59- others(4): Show c.59-2A>C		PATE4	ENSG00000237353.7	transcript	ENST00000457514.3	protein_coding	1/2					chr11	TogoVar
PBX4_chr19_19556713_19623687	19570813	GAATGCCA others(18): Show GAATGCCACGGATGCTTACCACTAGA	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18946.hp2 NA18946.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0053 a0004c0004t0001g0053	1	376	0.0027	-25	c.194 others(34): Show c.194-5_213delTCTAGTGGTAAGCATCCGTGGCATT	p.Val others(4): Show p.Val65fs	PBX4	ENSG00000105717.14	transcript	ENST00000251203.14	protein_coding	3/8	271/1495	194/1125	65/374		chr19	TogoVar
PCNX3_chr11_65610776_65642439	65635528	G G	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19060.hp2 NA19060.hp2	a0014 a0014	a0014c0046 a0014c0046	a0014c0046t0003 a0014c0046t0003	a0014c0046t0003g0048 a0014c0046t0003g0048	1	396	0.0025	0	c.518 others(6): Show c.5185-1G>T		PCNX3	ENSG00000197136.5	transcript	ENST00000355703.4	protein_coding	31/34					chr11	TogoVar
PDXDC1_chr16_14970026_15043332	15035995	GTCTGTCT others(19): Show GTCTGTCTGCCCTTTCTGTAGGCCAGA	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18969.hp1 NA18969.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0066 a0010c0013t0001g0066	1	279	0.0036	-26	c.210 others(38): Show c.2108-20_2113delTCTGTCTGCCCTTTCTGTAGGCCAGA	p.Gly others(19): Show p.Gly703_Lys705delinsGlu	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	23/23		2108/2367	703/788		chr16	TogoVar
PEX12_chr17_35569795_35583571	35576182	CTG CTG	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01109.hp2 HG01361.hp1 HG02723.hp1 others(1): Show HG01109.hp2 HG01361.hp1 HG02723.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0015 a0001c0001t0011g0032 a0001c0001t0011g0015 a0001c0001t0011g0032	4	436	0.0092	-2	c.681 others(13): Show c.681-3_681-2delCA		PEX12	ENSG00000108733.11	transcript	ENST00000225873.9	protein_coding	2/2					chr17	TogoVar
PGA4_chr11_61217347_61236694	61230850	CTCAACAA others(5837): Show CTCAACAAGAAGCACTGATGCCTGGGCTCCCCCACTGATTCTGATTACAT TAGGAGAGGGCAAGGCCTGAGCAATGGGATGGGGCTGCGGGGGTTCAAAG CTCCCCAGGTGATGTGCAGACAAGGTCGCAGCCCAGTGACTTAGTGAGGC AAGAGGGCTAATAGCTCATCTGGTTTGCCTCTGACCGGATCAGAATAATA ATGAGAAAAGGCTATGGCGGCAGGGTTTTCAAACTCCTTCCTAGCAGCTG AATTCTCCCTAAGCCCCTTAGCACCAATGCTGATGTCAGGGTTCGTGTGC CTGCCAGAAACACCAGATAATGTCCAGTAATGCGTAGAAACCAGTCGTTC AGTGGACGGCTTCTACAGGCCGACTCCAGGCCAAGAACAGCCGAGTCCCT GGACACTGAGCCAGGAAGCTCCTCCTTGCACGTGCCTTACAGCTGGACCA GGGCGCCCTGGATGTTTATCACCCAGCGCCTATCACGGCTGAATCGGTGT CCCAGCTCCACTTTTATTCTCCTTTTCTCCAGAGCGAGGGGAGCTGCATC AGTGGCTTCCAGGGCATGAACCTCCCCACCGAATCTGGAGAGCTTTGGAT CCTGGGTGATGTCTTCATCCGCCAGTACTTTACCGTCTTCGACAGGGCAA ACAACCAGGTCGGCCTGGCCCCCGTGGCTTAAGCCTAAGTCTCTTCAGCC ACCTCCCAGGAAGATCTGGCCTCTGTCCTGTGCCCACTTTAGATGTATCT AATTCTCCTGACTGTTCTTCCCAGGGGAGTGTGGAGGTCTTGGCCCTGTT CCCTGTCCTACCAATAACGTAGAATAAAAACATAACCCACTGAAACAGGT TTTGTGGAGCTGCTTCTCTTTGCTGGTCTTTTTCCTTCACATTACTGGGG TTAGAACGCCAGGGCAGGGATGAAAATGACCACATCCATTTGGATGGCAC CCAACATAGTGACCCCAGCAGCTGACACTTCATGATGGAGCCAAGAAGAC AGAGAGGCTTCGGGGGTTGTGCTGGAAGCATCATAAAAAGACCTGGGGGT CAAAATACTGGGCTAATTGTCTTCTCATAGAAGGGACACAGAGCTGAGAT CGTGCCATTGTACTCCAGCCTGGGCGACACAGAGAGACTCCAGCTCAGAA AGAAAAAAATAGGTCACTGAAGCTCTTAGTTGAGGGAGTCAACCTCCTAC TTCTCCCAAAGCCAATAAGAGATCATGAGAAGGCTGGGCACAGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACAGGTCACCTGAG GTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAATA AATTTACAAAAATGAGCTGGGTGTGGTGGTGCGCACCTATAATCCCAGCT ACTCAGGAGGCTGAGCCAAGAGATCGCTTGAACCTGGAAGGCGGAGGTTG CAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCATCTCAAAAAAAAACAAAAAAAGAAAAGAGATCATGAGGAAAGGA AAGCAATCAGGAGAGTCACGAGAGGTAGACACTAATGGTGATGTCCCTAA GTAGATAGGACAGGGCAGAGTTGTCTGCAAGACGTGGACAGGAGAAGTGG AAGAAGCTGACACCCCACAGTCTTCCAGGATGCCCTTGTGATTCACTGGC TACCAAGACCAAGACTAACAGTTAATCTCCCCAAGGTCCTAGGCAGAAAA CACTGAACCCATCTCTTTCCCCATCTGTAACCAAAGAGAAAGGTCTTCCA CTTCCCTGAGCAGAGGTTGTGAGACAGAGAATTAAGCATGTTCATTAGCA TATATGCCCTAGAAAGGCAAAGAGGAAATGGAGCAGTTTCTCAGACTGGG CTTGGTAGCAAAATGTTCAATGGAAAACACAGTTTCAGAATAAGTATAGA ACATGCTACATTCTAGGCCCTTCCCCAGGGTTCACCAGCTACAGTTCCCA ATCAAAGGCTCTGACAAGCCCTGCTGCAAAGTGATCTGTTTCTTTTTAAC TCAGCTGAGCTTCATCTCAGACTCTCTCTTGCTAGTAAGTCTATTACAGC CCTGGGCTCCCCGGCATGCATGCTGGGAAAATTCCCATAGCTCCTGCTTC TGGTGACAGCCGACCCAGGCTTTCTGCTGAAGACACAAGCCCAGAGGCTG GAGCTGGGCTCTAGGAAGGGCGGGGGTGAGCTCCAACACCCAGTCTCCCC AGGGTCACTCTCACCCTCCCAAGCCCATTTTCCATAGCTGAATAAACTTT AGGAAACATAAATTTCATCTCATCCCTTCCTTGCTTTAAACTCTTAATGC CTTCTTGCCATTGCCGTTGGAATAAAACAGCAAATCTTTGGCATAGTCCC ACGTCCTGTGTGCTCCTTTCCCTCCAAACCTTCCCTGCTTCACTCTGATC CCGTTACCCCGAGCTCCCTCCACCCTGGCCTCCCACGGCCACAATAGCCC AAGTGTTTTCCCACCTCCAGACTTTGCACATGCTGTTCCCTTTGCCAGGG TTGCTTTTCCCTCTTTCTTGACTAGCTAACACCTAGCATCTGCAGACGTG GCTTAAATGTCACTTCTCAGCCAGGCTTGGTGGCTCACGCCTATAATCCC AGCACTTTGGGAGGCCGAGGTGGGCAGATTAACTGAGGTCAGGAATTTGA GACCAGCCTGGCCAACATGGTGAAACCCCATATCCACTAAAAATATACAA AAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAGTCCCAGCTATTTAGGA GGCTGAGGCAGGAGAATCGCTTTAACCCAGGAGGTGGATGTTGCAGTGAG CCGAGATTGCACCACTGGACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAAAAAAAAATGTCACTTCCCTGTAAAAGTGATCAGCCCTCC CTCACCACTCTCTCAGAGAGCCTGGGCCTACATTTTCCCTCATGGTACTT GGCACTACCTATAACCATGCATTTCAGTGTTTAAGATTCACAAGGACAGG GATGGTGATGGTTTTAATTAGGTTTGAAGCCCAAGCAGCAAGAGCCGGGC TTGGCACATACTAGGAGGTCAATAAATATTTGCTGAATGAGTGATTAGAG AAGACTTTTTGAAAGGAACCATCTCAGATAGGATGAGAGTATGAGAGTGG GGATATGGTTTGACAAAGGCCATGTGAATAACAACAGGTGGGTCAGCTCC CACCCCCACCAACATTCCATCCCCGTCATATTCTGTCATGGGATAAGCAG GTGGATTTCTCAAGTTTCTGGGAAGGAATTTCACCCTGTCCTGGCTTCTT TGCTGGATTTATTTTTCTGATATTTCCCATGTACCTACTTTGAAGCTAGG CAGTGTGCTAGGCTCCGGGGATATAGGAAGGCAGGTCTTCCTGGATCCTA TCTGTTCTCCTGCACCTGATCCCAGCCTTCCTTCCTCCCCCATCTCAACA CCAGCAGCTGCAGCTCAGCCTCTCTCGCCCAGCACCTCTTCCATTCCCAC CCTGGGATTCCTGAACCCTGTCACAATCTAAAGACGTTCCTCATCAGACA GATCATTTGACCAGAAAGCCCTGTGCCAACATATCTGATTTCATCCTCCT CATGTTGCTGCACAACAGAAGATGAATTCACAATCCTTTCCTGCAGTCTC AGGCCTCTGCTCCATGCATCCTCCTCGAAGGGCCCTGGGGTCGAAGCACA GCTCCTTCCATCCTTTTCATTCACACTCATCCAGGAGTGTTATTTTAATC TCACAGGTCTCCTGCCCCATCCATCCTCACCTGTCCCAAATGATCACTCC ACACGCTGCTGGTGGGAGTGTAAACTGGCACCACCCTAAGAAGCATGATG TGGCTGTATCTATCAAAATTAAAAATGCATATGCCGGCCAGGCACGGTGG CTCACATAATCCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCA GGTGGATCACCTGAGGTGAGGAGTTTGAGACCAGCCAGGCCAACATGGTG GAACCTCATCTCCACAAAAAATACAAAATGAGCCGGGCGTGTTGACACAT GTCTGTAATTCCCAGCTACTTGGGAGGCTGAGCCAGGAGAATCTCTCGAA CCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGCACCATTGCACTTCAG CCTGGGCGACACAGCGAGATTCTGTCTCCAAAAAAAAAACAAAGGAATGA TAAATGTTCAAGATGATAAATATGCTAATTACTCTGATCTGATCACTAAA CATTATATGTACAGAAACATCCTTATGTACCCATAAATATGTACAATTAT TACATGTCAATTAAAAAGAAAACAGCCAGGCACAGTAGCTCATGGTGTAA CCCCAGCACTTGGGAAGGCCAAGGCGGCAGGACTGCTTCGGGCCATAGTT CAAGACCAGCCTGAGCAACATACCAAGACTTCATTTCTATTGTTTTTAAT AAATAAATAAAAGGAAAAGAAAGAAGATGTGTATACAAGAGAACATTCAT AGAGCACTGTTCCTAAGAACTCCACACTGGAAGCTACCCAAATGCCTATG AACTGAAAAAGAGAAAATAGCGGGTATATTGATGCAGAGGAATAATACAC AGCAATGAAAATGACTGAGTAACAACTCCACACACCGCCATTCGTGGATG CCTCTCCTAAACATGATTTTGAGCAAAGAAGCGCAATGCAAACTAAAGTG CTTGTTATGTGGTACTGCTTAGCAAAAGTACAAAAACAGGTGAAATGAAT CTTTGCTGTTTGGAAATCAGAGTAGTGATACGCTTGGTTTGGCCCTAGGA TAGTGACTGGGAAGAGCCTGGGGTGGGCTCCAGGGGTACCTGACATGCTC TTTTGCTGGGTCTGGGTTGTGGTTACACGTGTGTGCTTGGTTTGTGAAAA TTCATCAAGCTGTTTCTTATGATATGCACCTTTCTGTGTGCATATCATAT TTTGAGAAAAGTTTTAAAATGATCATGTAGATTTATAAAAATCACTTGTA AAATACAGAACCATGATTTTTCTTTTAAAAGCGGGTTCAGGTTGCAGATA GAGTAGCGCAGCAGAAGTGAGCTGGGCCCATCAAAGCGGGTTGCTTGCAA AACAACATGTGCCATATCTTGTGGTCCTATATTTGTAAGTAAATCAATAT ATTCATTTACTACGCCAGTGGTGGTTAGTTCTGGGTAGTGGGGTTAAAAG TCATTTTTAAAATTGTATTTATCTATAAATAATCTACAGTGATCATGTAT TACTTCTATACTTGAGCCAAAAAAGTTATCATCAATTTAGCTTTGAAAAC CTGCAGGCATCTCTGGAGAAGCAGCCCAGGTCTGGGACTGGGGAGTGGAA AACACAGTGTTCTCTTTGGTGTTGGAAGATCATGTCCCTGGGGTGAGACC TTGATTGAAAGCTGCTAGGGGACCAGCTGCCCCAATGCCTATCACACCAG CTTGATAACACTTATCATGCTTAAGTGCTCCATCTCAGCCTTGCCATGAT TGGGTTCCTTAGATCTCATTCCATTGCTTGATTTGATTGGTTCATGGAAC ATTTATGAACACCTGTGCCATTGGCAGGGGCTGCCCTGCATCAGAGACAC TGCTACCAGTCCCCCTGAAAGCCAGGCAATACCATACTGAGTGCCAGGCA GGGCTAATGGCAAAGCAAACGTTGCTGTCTAATCTTTCTGCCGGGCCAGT CTCGTACAATGAGATGTTGCGGCTTCCTTGCTGGCAGCCACGGATCAGCC CTGGCTGACAATCAGATCCCATGGGAGCACGTGGTTGCAGAATCA	C C	exon_loss_variant others(5): Show exon_loss_variant splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	NA21309.hp1 NA21309.hp1	a0000 a0000	a0000c0016 a0000c0016	a0000c0016t0005 a0000c0016t0005	a0000c0016t0005g0058 a0000c0016t0005g0058	1	304	0.0033	-5844	c.101 others(14): Show c.1018-531_*5163del		PGA4	ENSG00000229183.10	transcript	ENST00000378149.9	protein_coding	9/9					chr11	TogoVar
PGGHG_chr11_284126_301107	294097	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18953.hp1 NA18953.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0049 a0007c0013t0001g0049	1	450	0.0022	0	c.171 others(6): Show c.1711-2A>C		PGGHG	ENSG00000142102.16	transcript	ENST00000409548.7	protein_coding	11/13					chr11	TogoVar
PGGHG_chr11_284126_301107	294098	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18953.hp1 NA18953.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0049 a0007c0013t0001g0049	1	450	0.0022	0	c.171 others(6): Show c.1711-1G>A		PGGHG	ENSG00000142102.16	transcript	ENST00000409548.7	protein_coding	11/13					chr11	TogoVar
PHB2_chr12_6960327_6975664	6965713	CTG CTG	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG03516.hp2 NA18941.hp1 NA18942.hp2 others(12): Show HG03516.hp2 NA18941.hp1 NA18942.hp2 NA18950.hp2 NA18952.hp1 NA18981.hp2 NA18999.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19072.hp2 NA19078.hp2 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0005 a0001c0002t0001g0022 a0001c0002t0004g0021 a0001c0002t0001g0005 a0001c0002t0001g0022 a0001c0002t0004g0021	15	378	0.0397	-2	c.873 others(13): Show c.873-3_873-2delCA		PHB2	ENSG00000215021.10	transcript	ENST00000535923.6	protein_coding	9/9					chr12	TogoVar
PHETA2_chr22_42069248_42084438	42077278	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	406	0.0025	0	c.-14 others(5): Show c.-14-2A>G		PHETA2	ENSG00000177096.9	transcript	ENST00000321753.8	protein_coding	2/2					chr22	TogoVar
PHF7_chr3_52405660_52428641	52423087	C C	CCA CCA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02523.hp2 HG04204.hp2 NA19058.hp2 others(3): Show HG02523.hp2 HG04204.hp2 NA19058.hp2 NA19059.hp2 NA19078.hp1 NA19089.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0012 a0001c0003t0002g0039 a0001c0003t0002g0012 a0001c0003t0002g0039	6	362	0.0166	2	c.920 others(13): Show c.920-3_920-2dupCA		PHF7	ENSG00000010318.22	transcript	ENST00000327906.8	protein_coding	10/10				INFO_REALIGN_3_PRIME	chr3	TogoVar
PIEZO1_chr16_88710338_88790220	88736406	TACCTGCG others(54): Show TACCTGCGCGGCAGAGAGGGCTGCACAGCTGCCCAGCGCACCCCACCCAG GCGATGCCCCAC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG03209.hp1 HG03209.hp1	a0045 a0045	a0045c0138 a0045c0138	a0045c0138t0001 a0045c0138t0001	a0045c0138t0001g0272 a0045c0138t0001g0272	1	282	0.0036	-61	c.129 others(73): Show c.1297-59_1298delGTGGGGCATCGCCTGGGTGGGGTGCGCTGGGCA GCTGTGCAGCCCTCTCTGCCGCGCAGGT	p.Val others(5): Show p.Val433fs	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	12/51	1554/8089	1297/7566	433/2521		chr16	TogoVar
PIMREG_chr17_6439455_6456469	6450360	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	312	0.0032	0	c.15 others(5): Show c.15-2A>G		PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding	5/5					chr17	TogoVar
PIP5K1C_chr19_3625183_3705468	3648693	GGGGATCC others(50): Show GGGGATCCCGCCCATCCTGGGGAGAGAGGCCGAGGGTACCATCAGCATCC CGCAGAGC	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG03491.hp1 HG03491.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0135 a0004c0009t0001g0135	1	332	0.0030	-57	c.112 others(69): Show c.1128-42_1142delGCTCTGCGGGATGCTGATGGTACCCTCGGCCTC TCTCCCCAGGATGGGCGGGATCCC	p.Met others(13): Show p.Met377_Pro381del	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	9/18	1220/5069	1128/2007	376/668		chr19	TogoVar
PKHD1L1_chr8_109357461_109542207	109438896	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19043.hp1 NA19043.hp1	a0051 a0051	a0051c0060 a0051c0060	a0051c0060t0005 a0051c0060t0005	a0051c0060t0005g0035 a0051c0060t0005g0035	1	282	0.0036	0	c.376 others(6): Show c.3761-1G>A		PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	31/77					chr8	TogoVar
PLA2G2C_chr1_20158055_20191518	20172257	GGCCACGC others(1787): Show GGCCACGCCCCATGTGAAGGGCACTTGATCCACTTGCCCACATGGCTCCT TGAATGGTCTCAGTAACATGTGAGTCCCCCTTCCCTTCCCACCTATTTGC TTTTGTGGCCCTGGCAGCACCTATCTTAGTGCTTGGCATGCAGTCGCCCT TAATAAATATTTGTCCAACTGGAAGACAGCTGAGCCGTTTTGTTAACAAA ATCACAGAAACAAGGAAACATGTTCTCAACAGCAGCAGTTGTCAAGGGAA GCTTCAAGATTAGCTCAAGTGAACAAGTATTTACTGAGCATGTACTATCT GCCAGGCTCTGGGCCCCCAGAGAGTTCAGGAGGTACACTCATGGGTGGGA GAGACCAGGGCAGGATGAGCACGGACACTCTGAGAAGCTCTGGAGCATCA GGAGAAAGCTCAGGAATATCTCCTTCCAAGCACTTGGAAGCATTTCATTT TCTAAAAGATCTCTGGGTCAAAGAGGAGGTGAACGTTAAGGAAAGGCCCA GGTTAAAAGACATTTCCATACAGAAAAGGCTACTCACAAACCACTGCGCC ATTGACGATGTGGAACTGGTAGCTGTTCAACACAGGCTGGCAGCTGAACT CCTTCAGCTTCTCGTAGGGAGAGGGAGATGAGGGGCTGTGCCTGGAAGTG GGTCCCTCAGGAATCTGCTGGAGGACCTTATCTGGGGACTAGAAAGGGCT CACCTGCCTCCTCCTCTAGGCAAGAAGGCATTGAAGGTGAGGAGGTGAAT TATCAATAATATTAAACATAGGCCAGGTGTGGTGGCTCATGCCTGCAATC CCAGCACTTTGTGAGGATAAGGCAGGAGGATCGCTTCAGTCCAGGAGTTT GAGACCAGCCTGGGCAACATAGGGAGACCGCCTATGTTTTTTAAGTTTAA AAAAAAAAAAAAAGCCAGGCATGGTGGCACCAGCCTGTGGTCCCAGCTAC TCAGGAGGCTGAAGTGGGTGGATTGCTTGAGCTCAGGTGACGGAGGCTGC AGTGAGCTCTGATTGAGCCTCTCCACCCCAGCCTGGATAATAGAGCAAGA CCCCGTCTCCCAAAAAATAAATAAAATAAAAAATAATAATAATAACCAGT AGCATTTCCTGAGCCCTCTCTAGTATCTGTTGCTATCTCATTAGCTACTC ATAGAAACCTATAAAGTACAATCATTGCTGCCCTTTTGTAGGGGAGGGAC TGAGATTCCAAGAGGCCAATTTCCCAAACTTAGGCAGCTGGAGAATGATA GACCCAGGACACAAACCTAGGCCCATTCATTCATTTAACACTTTTTACTG AGCACCTACTGTGAGTCAGGCACTGTAACGGTCTCTGAGGAGACAACTGT CTGTAAAAGCCGACGTAGTCCCATTCATGGCACCCAGAGTTGGCTGGGGG CTGGATGGGAGAGCACTGGAGGAGAAATACCATCTGGAGCATGGGCTCAG TCCATGTCCTCAACCACTACACAAGGGACAGGAAGGCAGAAACTTAAGCT TGGATTCTAAGGCCTGAAAGGCCAAGAAAAATGTTTCAGTCTCCCTCTCT CACCATTCCCATCTGCAAGTGGGGGCTCTGCTGTTGATCAGCTTTGGCTA ATGATGTTCAATTTCTAATCAGCCTTTGGACTTTGACAGGGGAGGCACAG ACCATCAAGGAGAGGGGACAAACTTTGAAATAGGCAAATTCTCGTTCAAT CCTAACTCTGCCACTTAGAAGCTGCATTGCCTTTAGGAGGTGGTTTAGCA ACTCACTGTCCTCACCTGTCAAATGGGCTGGTATCACTGTCTCGT	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG03139.hp2 NA21309.hp1 HG03139.hp2 NA21309.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0221 a0004c0004t0001g0268 a0004c0004t0001g0221 a0004c0004t0001g0268	2	406	0.0049	-1794	c.179 others(15): Show c.179+956_283+536del		PLA2G2C	ENSG00000187980.7	transcript	ENST00000679259.1	protein_coding	4/5					chr1	TogoVar
PLA2G4C_chr19_48042846_48115817	48077271	TCAGTAGC others(1269): Show TCAGTAGCACTGCTATACACCAACAATGACCAAGCTGAGATTCAAATCAA GAACTCAACCCCTTTTACAACAGCTGCAAAAAAATAAAATAAAGTACTCA GGAATATACCTAACCAAGGAGGTGAAAGACTGCTACAAGGAAAACTACAA AACACTGCTGAAAGAAATCATAGATGACACAAACAAATGGAAACACATCC CATGCTCATGGATGGGTAGAATCAATATTGTGAAAATGACCATACTGCCA AAAGCAATCTACAAGTCCAGTGTAATTCCTATCAAAATACTATCATTTTT CACAGAGTGTCAGTTTGAACTCCGATCCTGCCCCTCCTGGCTGCGTGGCC TCAGGCACCTGGGAGAGTCCATGCTCCTCTCCATTCCCAAAGGAGCACCA CATGAATCAGACACGTAAAGTTTTTAGGACAATGGCTGGCTTCAAGCCAG TGTGCAGTCCACACTATCATTAGGGATTCATGGCAAAGTAGGATGCTTAC CTTCTGGGGGAGGATGTTCCCCTTGTGAACTTTCTTGCAGCCTCAGTAAT CGGGCTGCAAAAGAGCAGAGGCAGGGGGAATGTTTAACTGTAAAGTCACT AGTTATAGAAAATACAGATTACCTGCAGCGACGTCTCTTTAATAGAAATG GCAGCCATGGGTTGGAGTCTGTTGATACGGGTTCTGGAGAGCTAATTTTG TACCCGTCTTCCAACTCTGTGCTCGCTGACCTCATGTTGGTAGCTTGAAA TTTGCCATGATGTGATCAAGTGGGTTTCATACTAGGAATGCAGGGATGGC TTAACATATGCAAGTCAACAAATGTGATATATCACAGAAACAGAATTAAA AACAAAAATCATAGGAGATGCAGAAGCATTTCACAAAATCCCACATCCCT TTATGATTAAAGCCCTCAACAAAATCGGTATACAAGAGACATACTTCAAT GTAATAAAAGCCATCTATGACAAACCCACAGCCAACATTACACTGAACAG GGAAAAGTTTAAAGCATTCCCCCTGAGAACTGCAATAAGACAAGAATGCC CACTCTTATCACTTGTATTCAACATAGTACTGGAAGTCCTAGCCACAGCC ATCAGACAAGAGAAAGAAATGAAGGGTATCCAAACCAGTAAAGAGGAAGT CAAACTGTTAGTGTTCACTGATGATATGATTGTACACCTAGAAAACCCTA AAGACTCATCCAAAAAGCTCCTAGGTCTGATGAATGAATTCAGTAGAGTT TCAGGATACAAAATCAATGTACACAAA	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01070.hp1 HG01070.hp1	a0030 a0030	a0030c0068 a0030c0068	a0030c0068t0001 a0030c0068t0001	a0030c0068t0001g0079 a0030c0068t0001g0079	1	322	0.0031	-1276	c.845 others(15): Show c.845-723_898+499del		PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	11/17					chr19	TogoVar
PLA2G4D_chr15_42062009_42099562	42083780	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp2 HG00621.hp2 HG01192.hp1 others(34): Show HG00423.hp2 HG00621.hp2 HG01192.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02080.hp2 HG02273.hp1 HG02698.hp2 NA18939.hp1 NA18942.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18952.hp1 NA18955.hp1 NA18961.hp2 NA18970.hp2 NA18975.hp2 NA18979.hp2 NA18993.hp1 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA19005.hp1 NA19011.hp1 NA19012.hp1 NA19060.hp2 NA19063.hp1 NA19068.hp2 NA19074.hp2 NA19078.hp2 NA19082.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0017	a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0042 others(14): Show a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0175 a0001c0001t0005g0015 a0001c0001t0005g0026 a0001c0001t0005g0100 a0001c0001t0005g0203 a0001c0001t0013g0117 a0001c0001t0017g0226	37	432	0.0857	0	c.472 others(5): Show c.472-1G>A		PLA2G4D	ENSG00000159337.7	transcript	ENST00000290472.4	protein_coding	6/19					chr15	TogoVar
PLA2G4D_chr15_42062009_42099562	42087701	CT CT	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00738.hp1 HG01069.hp1 HG01071.hp2 others(1): Show HG00738.hp1 HG01069.hp1 HG01071.hp2 NA20905.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0018 a0004c0004t0004g0018	4	432	0.0093	-1	c.46- others(5): Show c.46-2delA		PLA2G4D	ENSG00000159337.7	transcript	ENST00000290472.4	protein_coding	1/19					chr15	TogoVar
PLA2R1_chr2_159927006_160067615	159976227	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0003 a0001c0001t0032g0003	2	326	0.0061	0	c.243 others(6): Show c.2438-2A>G		PLA2R1	ENSG00000153246.13	transcript	ENST00000283243.13	protein_coding	16/29					chr2	TogoVar
PLAC1_chrX_134560838_134663471	134602124	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	252	0.0040	0	c.-13 others(6): Show c.-130-2A>G		PLAC1	ENSG00000170965.10	transcript	ENST00000359237.9	protein_coding	1/2					chrX	TogoVar
PLB1_chr2_28491060_28649142	28598003	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01255.hp2 HG01255.hp2	a0041 a0041	a0041c0051 a0041c0051	a0041c0051t0001 a0041c0051t0001	a0041c0051t0001g0250 a0041c0051t0001g0250	1	266	0.0038	0	c.232 others(6): Show c.2322-2A>G		PLB1	ENSG00000163803.13	transcript	ENST00000327757.10	protein_coding	33/57					chr2	TogoVar
PLB1_chr2_28491060_28649142	28598004	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03710.hp1 HG03710.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0163 a0003c0003t0005g0163	1	266	0.0038	0	c.232 others(6): Show c.2322-1G>A		PLB1	ENSG00000163803.13	transcript	ENST00000327757.10	protein_coding	33/57					chr2	TogoVar
PLEKHJ1_chr19_2228153_2241329	2235992	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18967.hp1 NA18967.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0012 a0003c0002t0003g0012	1	426	0.0024	0	c.95- others(4): Show c.95-2A>T		PLEKHJ1	ENSG00000104886.12	transcript	ENST00000326631.7	protein_coding	1/5					chr19	TogoVar
PLEKHN1_chr1_961482_980865	971305	CCCACCCC others(19): Show CCCACCCCCACCCACCCAGGAGCAGTG	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp1	a0020 a0020	a0020c0048 a0020c0048	a0020c0048t0001 a0020c0048t0001	a0020c0048t0001g0140 a0020c0048t0001g0140	1	422	0.0024	-26	c.709 others(36): Show c.709-18_716delCCACCCCCACCCACCCAGGAGCAGTG	p.Glu others(5): Show p.Glu237fs	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding	8/16		709/1836	237/611		chr1	TogoVar
PLGRKT_chr9_5352971_5442925	5436696	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	414	0.0024	0	c.-13 others(6): Show c.-132-2A>G		PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	1/5					chr9	TogoVar
PLK4_chr4_127875893_127904224	127891075	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp1 HG00438.hp2 HG00544.hp1 others(76): Show HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00738.hp2 HG00741.hp2 HG01081.hp2 HG01099.hp2 HG01358.hp2 HG01978.hp2 HG01981.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02132.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02572.hp1 HG02723.hp1 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18972.hp1 NA18977.hp2 NA18978.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp2 NA19085.hp1 NA19086.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0008c0011 a0009c0014	a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 a0001c0005t0001 a0002c0002t0001 a0008c0011t0001 a0009c0014t0001	a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0111 others(43): Show a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0111 a0001c0001t0001g0153 a0001c0001t0001g0174 a0001c0001t0007g0133 a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0004 a0001c0003t0001g0008 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0272 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0005t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0245 a0002c0002t0001g0261 a0008c0011t0001g0002 a0009c0014t0001g0052	79	364	0.2170	1	c.183 others(7): Show c.1831-3dupT		PLK4	ENSG00000142731.11	transcript	ENST00000270861.10	protein_coding	7/15				INFO_REALIGN_3_PRIME	chr4	TogoVar
PLK5_chr19_1519077_1541046	1531737	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01106.hp2 HG01192.hp2 HG02145.hp2 others(3): Show HG01106.hp2 HG01192.hp2 HG02145.hp2 HG02257.hp2 HG03139.hp1 HG03195.hp2	a0004 a0005 a0004 a0005	a0004c0004 a0005c0006 a0004c0004 a0005c0006	a0004c0004t0063 a0005c0006t0025 a0005c0006t0036 others(1): Show a0004c0004t0063 a0005c0006t0025 a0005c0006t0036 a0005c0006t0048	a0004c0004t0063g0324 a0005c0006t0025g0044 a0005c0006t0025g0323 others(2): Show a0004c0004t0063g0324 a0005c0006t0025g0044 a0005c0006t0025g0323 a0005c0006t0036g0051 a0005c0006t0048g0228	6	430	0.0140	0	c.569 others(5): Show c.569-1G>A		PLK5	ENSG00000185988.15	transcript	ENST00000454744.7	protein_coding	11/13					chr19	TogoVar
PLXNB3_chrX_153759249_153784341	153770958	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18941.hp2 NA18941.hp2	a0013 a0013	a0013c0032 a0013c0032	a0013c0032t0004 a0013c0032t0004	a0013c0032t0004g0085 a0013c0032t0004g0085	1	308	0.0033	1	c.213 others(7): Show c.2137-3dupC		PLXNB3	ENSG00000198753.12	transcript	ENST00000361971.10	protein_coding	11/35				INFO_REALIGN_3_PRIME	chrX	TogoVar
PLXNC1_chr12_94143577_94312675	94303749	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01255.hp2 HG01346.hp1 HG01496.hp1 others(1): Show HG01255.hp2 HG01346.hp1 HG01496.hp1 HG01934.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0024 a0001c0001 a0008c0024	a0001c0001t0002 a0008c0024t0002 a0001c0001t0002 a0008c0024t0002	a0001c0001t0002g0037 a0001c0001t0002g0046 a0001c0001t0002g0103 others(1): Show a0001c0001t0002g0037 a0001c0001t0002g0046 a0001c0001t0002g0103 a0008c0024t0002g0104	4	298	0.0134	1	c.438 others(7): Show c.4387-3dupC		PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	28/30				INFO_REALIGN_3_PRIME	chr12	TogoVar

Search by Variant

Search

Search Results (Total: 1040 hits)