Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PARL_chr3_183824271_183889880	183870210	A A	AGAGGTTG others(296): Show AGAGGTTGCAGTGAGCCGAGACTGTGCCACTGCATTCCAGCCTGGGAGAC AAAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGTCTAGGCTGGGCACA GCGACTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGAT CACCTAAGGTCAGGAGTTCAAGACCAGTCTGGCCAACACTGGGAAACCCT GACTCTACTAAGAATACAAAAATTAGCTGGGCGTGATGGTGTACACCTGT AATCTCAGCTACTCGCGAGGCTGACGCATGAGAAGTGCTTGAACCGGGGA AGTG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18969.hp1 NA18960.hp2 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0031 a0002c0002t0001g0032	2	40	0.0500	303	c.126 others(320): Show c.126-2151_126-2150insCACTTCCCCGGTTCAAGCACTTCTCATG CGTCAGCCTCGCGAGTAGCTGAGATTACAGGTGTACACCATCACGCCCAG CTAATTTTTGTATTCTTAGTAGAGTCAGGGTTTCCCAGTGTTGGCCAGAC TGGTCTTGAACTCCTGACCTTAGGTGATCTGCCTGCCTCGGCCTCCCAAA ATGCTGGGATTACAGGTGTGAGTCGCTGTGCCCAGCCTAGACTTTTTTTT TTTTTTTTGAGATGGAGTCTCGCTTTGTCTCCCAGGCTGGAATGCAGTGG CACAGTCTCGGCTCACTGCAACCTC	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PARL_chr3_183824271_183889880	183870210	A A	AGAGGTTG others(296): Show AGAGGTTGCAGTGAGCCGAGACTGTGCCACTGCATTCCAGCCTGGGAGAC AAAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGTCTAGGCTGGGCACA GCGACTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGAT CACCTAAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATTGGGAAACCCT GACTCTACTAAGAATACAAAAATTAGCTGGGCGTGATGGTGTACACCTGT AATCTCAGCTACTCGCGAGGCTGACGCATGAGAAGTGCTTGAACCCGGGA AGTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	39	0.0256	303	c.126 others(320): Show c.126-2151_126-2150insCACTTCCCGGGTTCAAGCACTTCTCATG CGTCAGCCTCGCGAGTAGCTGAGATTACAGGTGTACACCATCACGCCCAG CTAATTTTTGTATTCTTAGTAGAGTCAGGGTTTCCCAATGTTGGCCAGAC TGGTCTTGAACTCCTGACCTTAGGTGATCTGCCTGCCTCGGCCTCCCAAA ATGCTGGGATTACAGGTGTGAGTCGCTGTGCCCAGCCTAGACTTTTTTTT TTTTTTTTGAGATGGAGTCTCGCTTTGTCTCCCAGGCTGGAATGCAGTGG CACAGTCTCGGCTCACTGCAACCTC	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PASK_chr2_241101099_241154472	241116061	C C	CCAGGGCC others(296): Show CCAGGGCCACCCGGTCCCCAAGCATCCCATTACACCAGGGCCACCCGGTC CCCAAGCATCCATTACACCAGGGGCCACCGGTCCCCAAGCATCCCATTAC ACAGGGGCCACCGGTCCCCAAGCATCCCATTACACCAGGGGCCACCGGTC CCCAAGCATCCCATTACACCAGGGGCCACCGGTCCTCAAGCATCCCATTA CACCAGGGGCCACCGGTCCCCAAGCATCCCATTACACCATGGGCCACCGG TCCCCAAGCATCCCATTACACCAGGGGCCACCGGTCCCCAAGCATCCCAT TACA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0002 a0001c0025t0002	a0001c0025t0002g0072 a0001c0025t0002g0072	1	374	0.0027	303	c.307 others(320): Show c.3073-649_3073-648insTGTAATGGGATGCTTGGGGACCGGTGGC CCCTGGTGTAATGGGATGCTTGGGGACCGGTGGCCCATGGTGTAATGGGA TGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGAGGACCGGTG GCCCCTGGTGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAATGG GATGCTTGGGGACCGGTGGCCCCTGTGTAATGGGATGCTTGGGGACCGGT GGCCCCTGGTGTAATGGATGCTTGGGGACCGGGTGGCCCTGGTGTAATGG GATGCTTGGGGACCGGGTGGCCCTG	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(296): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATGTATTA CATATATGTAATACACATATAACATGTATTACATATATGTAATACACATA TAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	122	0.0082	303	c.70 others(314): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATGTATTACATATATGTAATACACATATAACATGTATTACATA TATGTAATACACATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721687	A A	ACATATAT others(296): Show ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTAATACATATATAACA TATATGTATTACATATATGTAATACATATATAACATGTATTACATATATG TAATACATATATAACATGTATTACATATATGTAATACACATATAACATGT ATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	395	0.0025	303	c.71 others(314): Show c.7125_*7126insCATATATGTATTACATATATAACATATATGTATT ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT AATACATATATAACATATATGTATTACATATATGTAATACATATATAACA TGTATTACATATATGTAATACATATATAACATGTATTACATATATGTAAT ACACATATAACATGTATGT	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3207		chr20	TogoVar
PCGF3_chr4_700832_775089	716903	C C	CGAGTGTG others(296): Show CGAGTGTGAGAACTGGGCGTGGGTGCTGGGACCCTGTAGACACTGTGAGT GTGAGAACTGGGCGTCGGTGCTGGGACCCTGTAGACACTGAGGGTGAGAA CTGGGCGTCTGTGCTGGGACCCTGTAGACACTGAGGGTGAGAACTGGGCG TCGGTGCTGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGC TGGGACCCTGTAGACACTGTGTGAGAACTGGGCGTCGGTGCTGGGACCCT GAAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTAGATA CTGT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0002 a0001c0003t0005g0002	2	354	0.0056	303	c.-19 others(324): Show c.-190+11121_-190+11122insGGCGTCGGTGCTGGGACCCTGTAG ACACTGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGAAGACACTGAGT GTGAGAACTGGGCGTCGGTGCTGGGACCCTGTAGATACTGTGAGTGTGAG AACTGGGCGTGGGTGCTGGGACCCTGTAGACACTGTGAGTGTGAGAACTG GGCGTCGGTGCTGGGACCCTGTAGACACTGAGGGTGAGAACTGGGCGTCT GTGCTGGGACCCTGTAGACACTGAGGGTGAGAACTGGGCGTCGGTGCTGG GACCCTGTAGACACTGAGTGTGAGAACTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCSK6_chr15_101298933_101494707	101312089	A A	ACCCTCAC others(296): Show ACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACACCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCG TCAC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	290	0.0034	303	c.269 others(322): Show c.2699+1286_2699+1287insGTGACGATGGGGTGGGCTGTGAGGGT GTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GTGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAG GGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAG GGGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDGFA_chr7_492258_524846	510720	A A	AGGGGAGA others(296): Show AGGGGAGAGGAGGGGAGGGGAGAGGAGAGGAGGGGAGGGGAGGGGAGAGG AGAGGGAGGGGAGAGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGCTCA CCTTGACGCCTGCGGTGGTGGACGCGGGAGGGACCCTGGCTGCTAGGTAG GGGCGGCCCTTGGGCTCGGGTGGGGAGGGGAGGGGAGGGGAGGGGAGAGG AGGGGAGGGGCAGGGCTCACCTTGACGCTGTGGTGGTGGATGCAGGAGGG ACCCTGGCTGCTTGGTAGGGGCGGCCCCGGGCTTGGGTGGGGAGGGGAGG GGAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0273 a0001c0001t0025g0273	1	299	0.0033	303	c.453 others(316): Show c.453+88_453+89insCTCCCCTCCCCTCCCCACCCAAGCCCGGGGCC GCCCCTACCAAGCAGCCAGGGTCCCTCCTGCATCCACCACCACAGCGTCA AGGTGAGCCCTGCCCCTCCCCTCCTCTCCCCTCCCCTCCCCTCCCCTCCC CACCCGAGCCCAAGGGCCGCCCCTACCTAGCAGCCAGGGTCCCTCCCGCG TCCACCACCGCAGGCGTCAAGGTGAGCCCTCCCCTCCCCTCCCCTCCCCT CCCCCTCCTCTCCCCTCCCTCTCCTCTCCCCTCCCCTCCCCTCCTCTCCT CTCCCCTCCCCTCCTCTCCCC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar
PDXK_chr21_43714129_43767299	43741350	G G	GGGGGGGC others(296): Show GGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTCGCGGGGGGGTTCGCGGGGGGGCTCGCGGGGGGGCTCG CGGGGGGCTCGCGGGGGGGCTCAGGGGGCTCGCGGGGGGCTGGCGGGCTC GCGGGGGGCTCGCGGGGGGGTTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGC TGGC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0178 a0001c0001t0007g0178	1	296	0.0034	303	c.143 others(318): Show c.143-300_143-299insGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGGTTCGCGGGGGGGCTCGCGGGGGGGCT CGCGGGGGGCTCGCGGGGGGGCTCAGGGGGCTCGCGGGGGGCTGGCGGGC TCGCGGGGGGCTCGCGGGGGGGTTCGCGGGGGGGCTCGCGGGGGGCTCGC GGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGG GCTGGCGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741442	G G	GGGGGGGC others(296): Show GGGGGGGCTCGCGGGGGGCTGGCGGGGGCCTCGCGGGGGGGCTCGCGGGG GGCTCGCAGGGGGGCTGGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGC TGGCGGGGGGGCTCGCGGGGGGGCTGGCAGGGGGGCTCGCGGGGGGCTCG CAGGGGGGCTGGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTGGCAG GGGGGCTCGCGGGGGGCTCGCAGGGGGGCTGGCAGGGGGGCTCGCGGGGG GCTCGCAGGGGGGCTGGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCT CGCA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0038 a0001c0001t0077g0038	1	214	0.0047	303	c.143 others(318): Show c.143-206_143-205insGGCGGGGGCCTCGCGGGGGGGCTCGCGGGG GGCTCGCAGGGGGGCTGGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGC TGGCGGGGGGGCTCGCGGGGGGGCTGGCAGGGGGGCTCGCGGGGGGCTCG CAGGGGGGCTGGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTGGCAG GGGGGCTCGCGGGGGGCTCGCAGGGGGGCTGGCAGGGGGGCTCGCGGGGG GCTCGCAGGGGGGCTGGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCT CGCAGGGGGGCTCGCGGGGGGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXP_chr22_37653723_37671932	37656829	A A	AAATTTTT others(296): Show AAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0050 a0002c0002t0005g0050	1	412	0.0024	303	c.-19 others(314): Show c.-1954_-1953insAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	PDXP	ENSG00000241360.2	transcript	ENST00000215904.7	protein_coding		1893		chr22	TogoVar
PHACTR4_chr1_28364740_28505364	28395818	A A	ATTTTTTT others(296): Show ATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCGCCCGC CACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGACGGGGTTTCAC CGTTTTAGCCTGGATGGTCTCGGTCTCCTGACCTCGTGATCCGCCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT TTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0093 a0001c0005t0007g0093	1	95	0.0105	303	c.-38 others(322): Show c.-38-11576_-38-11575insGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGG CGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCTGGATGGTCTCGGTCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCTTTTTTTTTTTTTTTTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHACTR4_chr1_28364740_28505364	28395818	A A	ATTTTTTT others(296): Show ATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCGCCCGC CACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGACGGGGTTTCAC CGTTTTAGCCTGGATGGTCTCGGTCTCCTGACCTCGTGATCCGCCCGCCT TGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT TTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01257.hp2 HG01258.hp2 others(7): Show HG01109.hp2 HG01257.hp2 HG01258.hp2 HG02258.hp2 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG03098.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0006 a0001c0003t0009 others(4): Show a0001c0003t0004 a0001c0003t0006 a0001c0003t0009 a0001c0003t0014 a0001c0003t0025 a0001c0003t0026 a0001c0003t0027	a0001c0003t0004g0224 a0001c0003t0006g0135 a0001c0003t0006g0138 others(7): Show a0001c0003t0004g0224 a0001c0003t0006g0135 a0001c0003t0006g0138 a0001c0003t0006g0140 a0001c0003t0009g0132 a0001c0003t0014g0122 a0001c0003t0014g0133 a0001c0003t0025g0221 a0001c0003t0026g0134 a0001c0003t0027g0137	10	104	0.0962	303	c.-38 others(322): Show c.-38-11576_-38-11575insGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGG CGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCTGGATGGTCTCGGTCTCCTGACCTCGTGATCCG CCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCTTTTTTTTTTTTTTTTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(296): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGG GAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGG GGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	29	0.0345	303	c.53 others(314): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGAGATGGGAGGGGGAAGAGGGAAGGGAGGGGAGGGGGAATAGG GGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGA AGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(296): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGG GGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0117	1	29	0.0345	303	c.53 others(314): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAG GGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGA AGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(296): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGAAGAGGGGATGGGAGG GGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	29	0.0345	303	c.53 others(314): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAG GGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGA AGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455736	A A	AAGGAGGG others(296): Show AAGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGGGGGAAGAGG GGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAG AGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGG GGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGGAAGAGGGGA GGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	307	0.0033	303	c.53 others(314): Show c.5389_*5390insAGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGAT GGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAG GAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGG GAGGGGAAGAGGGGAGGGG	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4268		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(296): Show GGAGGGGAGGGGGAAGAGGGGAGGGGAAGAGGGGAGGGGAGGAGATGGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGG GAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGG GGAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	18	0.0556	303	c.262 others(318): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCT TCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTC CCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCC CCTCCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCC TCCCCTCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCCTCCCCTCTTCC CCTCCCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455736	A A	AAGGAGGG others(296): Show AAGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGGGGGAAGAGG GGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAG AGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGG GGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGGAAGAGGGGA GGGG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0052 a0002c0005t0052	a0002c0005t0052g0094 a0002c0005t0052g0094	1	215	0.0047	303	c.262 others(318): Show c.2620-94_2620-93insCCCCTCCCCTCTTCCCCTCCCATCCCCTCT TCCCCCTTCCCTCCTCTCCCCTCCCCCCTTCCCCTCTTCCCCCTCCCCTC CCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCTCCCCTCCCT TCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCCTCCCTT CCCCTCTTCCCCCTCCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCC CCTATTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCC TCCCCTCTTCCCCCTCCCCTCCT	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PLCB1_chr20_8127266_8889900	8689956	T T	TGTCTCCA others(296): Show TGTCTCCAAATTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGT TCTGTCGCCCAGGCGGGAGTGCTGTGGCACGATCTCCGCTCACTGCAAGC TCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0006 a0001c0010t0006	a0001c0010t0006g0085 a0001c0010t0006g0085	1	53	0.0189	303	c.100 others(322): Show c.1009+4892_1009+4893insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCACGATCTCCGCTC ACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCGTCTCCAAATTTCT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	10/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLEC_chr8_143910153_143944597	143928395	A A	AGCGGCGG others(296): Show AGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTG GACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTG GTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAA GAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGG TGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCATGTGCT GGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGA AGAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01106.hp2 others(9): Show HG00735.hp1 HG00735.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01358.hp2 HG01496.hp1 NA18952.hp2 NA18984.hp1 NA18986.hp1 NA19060.hp1	a0002 a0014 a0036 others(1): Show a0002 a0014 a0036 a0043	a0002c0002 a0002c0015 a0002c0058 others(5): Show a0002c0002 a0002c0015 a0002c0058 a0002c0069 a0002c0071 a0014c0016 a0036c0055 a0043c0059	a0002c0002t0002 a0002c0015t0007 a0002c0015t0010 others(6): Show a0002c0002t0002 a0002c0015t0007 a0002c0015t0010 a0002c0058t0001 a0002c0069t0002 a0002c0071t0007 a0014c0016t0002 a0036c0055t0002 a0043c0059t0002	a0002c0002t0002g0013 a0002c0015t0007g0119 a0002c0015t0010g0041 others(7): Show a0002c0002t0002g0013 a0002c0015t0007g0119 a0002c0015t0010g0041 a0002c0058t0001g0068 a0002c0069t0002g0072 a0002c0071t0007g0120 a0014c0016t0002g0055 a0014c0016t0002g0069 a0036c0055t0002g0070 a0043c0059t0002g0071	12	349	0.0344	303	c.326 others(320): Show c.3261-404_3261-403insCTCTTCCTGTGTTGCAAACCACAGGTCC ACCCGCTGTCTACTCCTCACAGAACCAGCACATGATAGGGCCGCCGCCTC TTCCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAAC CAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTC CACCCGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCC TCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGA ACCAGCACAGTGATAGGGCCGCCGC	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143944597	143928411	C C	CTGTGCTG others(296): Show CTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAA CACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAG ACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTAT CACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGC AACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGT AGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCT ATCA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02056.hp2 HG02155.hp2 others(5): Show HG00597.hp1 HG02056.hp2 HG02155.hp2 NA18945.hp1 NA18954.hp2 NA18971.hp2 NA18977.hp1 NA19057.hp1	a0002 a0002	a0002c0005 a0002c0070 a0002c0005 a0002c0070	a0002c0005t0002 a0002c0070t0002 a0002c0005t0002 a0002c0070t0002	a0002c0005t0002g0007 a0002c0005t0002g0050 a0002c0005t0002g0051 others(2): Show a0002c0005t0002g0007 a0002c0005t0002g0050 a0002c0005t0002g0051 a0002c0005t0002g0091 a0002c0070t0002g0092	8	356	0.0225	303	c.326 others(320): Show c.3261-420_3261-419insTGATAGGGCCGCCGCCTCTTCCTGTGTT GCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACA	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143944597	143928664	C C	CAGCGGGT others(296): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCATGTGCTGGTTCTGTGAGGAGTAG ACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTAT CACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGC AACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGT AGAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0017 a0017	a0017c0049 a0017c0049	a0017c0049t0002 a0017c0049t0002	a0017c0049t0002g0090 a0017c0049t0002g0090	1	212	0.0047	303	c.326 others(320): Show c.3260+438_3260+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAT GATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTG TCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGT GTTGCAAACCACAGGTCCACCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143944597	143928664	C C	CAGCGGGT others(296): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ATGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAA CACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAG ACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTAT CACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGC AACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGT AGAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01943.hp2 HG01975.hp2 others(4): Show HG01261.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG02293.hp2 HG03927.hp1 NA20752.hp2	a0002 a0010 a0048 a0002 a0010 a0048	a0002c0002 a0002c0048 a0002c0062 others(2): Show a0002c0002 a0002c0048 a0002c0062 a0010c0017 a0048c0046	a0002c0002t0002 a0002c0048t0002 a0002c0062t0002 others(2): Show a0002c0002t0002 a0002c0048t0002 a0002c0062t0002 a0010c0017t0002 a0048c0046t0002	a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0088 others(4): Show a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0088 a0002c0048t0002g0047 a0002c0062t0002g0096 a0010c0017t0002g0089 a0048c0046t0002g0087	7	218	0.0321	303	c.326 others(320): Show c.3260+438_3260+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACATGATAGGGCCGCCGCCTCTTCCTGT GTTGCAAACCACAGGTCCACCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928395	A A	AGCGGCGG others(296): Show AGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTG GACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTG GTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAA GAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGG TGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCATGTGCT GGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGA AGAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01106.hp2 others(6): Show HG00735.hp1 HG00735.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01358.hp2 HG01496.hp1 NA18952.hp2 NA18984.hp1	a0002 a0013 a0018 others(1): Show a0002 a0013 a0018 a0041	a0002c0002 a0002c0019 a0002c0058 others(4): Show a0002c0002 a0002c0019 a0002c0058 a0002c0060 a0013c0010 a0018c0018 a0041c0048	a0002c0002t0002 a0002c0019t0007 a0002c0058t0002 others(4): Show a0002c0002t0002 a0002c0019t0007 a0002c0058t0002 a0002c0060t0007 a0013c0010t0002 a0018c0018t0002 a0041c0048t0002	a0002c0002t0002g0020 a0002c0002t0002g0035 a0002c0019t0007g0038 others(6): Show a0002c0002t0002g0020 a0002c0002t0002g0035 a0002c0019t0007g0038 a0002c0058t0002g0023 a0002c0060t0007g0048 a0013c0010t0002g0043 a0013c0010t0002g0075 a0018c0018t0002g0039 a0041c0048t0002g0025	9	294	0.0306	303	c.321 others(320): Show c.3219-404_3219-403insCTCTTCCTGTGTTGCAAACCACAGGTCC ACCCGCTGTCTACTCCTCACAGAACCAGCACATGATAGGGCCGCCGCCTC TTCCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAAC CAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTC CACCCGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCC TCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGA ACCAGCACAGTGATAGGGCCGCCGC	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928411	C C	CTGTGCTG others(296): Show CTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAA CACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAG ACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTAT CACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGC AACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGT AGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCT ATCA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02056.hp2 HG02155.hp2 others(5): Show HG00597.hp1 HG02056.hp2 HG02155.hp2 NA18945.hp1 NA18954.hp2 NA18971.hp2 NA18977.hp1 NA19057.hp1	a0002 a0002	a0002c0005 a0002c0059 a0002c0005 a0002c0059	a0002c0005t0002 a0002c0059t0002 a0002c0005t0002 a0002c0059t0002	a0002c0005t0002g0041 a0002c0005t0002g0042 a0002c0005t0002g0050 others(5): Show a0002c0005t0002g0041 a0002c0005t0002g0042 a0002c0005t0002g0050 a0002c0005t0002g0055 a0002c0005t0002g0056 a0002c0005t0002g0069 a0002c0005t0002g0177 a0002c0059t0002g0033	8	300	0.0267	303	c.321 others(320): Show c.3219-420_3219-419insTGATAGGGCCGCCGCCTCTTCCTGTGTT GCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACA	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928664	C C	CAGCGGGT others(296): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCATGTGCTGGTTCTGTGAGGAGTAG ACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTAT CACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGC AACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGT AGAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0017 a0017	a0017c0042 a0017c0042	a0017c0042t0002 a0017c0042t0002	a0017c0042t0002g0176 a0017c0042t0002g0176	1	167	0.0060	303	c.321 others(320): Show c.3218+438_3218+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAT GATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTG TCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGT GTTGCAAACCACAGGTCCACCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928664	C C	CAGCGGGT others(296): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ATGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAA CACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAG ACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTAT CACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGC AACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGT AGAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01943.hp2 HG01975.hp2 others(4): Show HG01261.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG02293.hp2 HG03927.hp1 NA20752.hp2	a0002 a0008 a0046 a0002 a0008 a0046	a0002c0002 a0002c0041 a0002c0051 others(2): Show a0002c0002 a0002c0041 a0002c0051 a0008c0011 a0046c0039	a0002c0002t0002 a0002c0041t0002 a0002c0051t0002 others(2): Show a0002c0002t0002 a0002c0041t0002 a0002c0051t0002 a0008c0011t0002 a0046c0039t0002	a0002c0002t0002g0108 a0002c0002t0002g0111 a0002c0002t0002g0114 others(4): Show a0002c0002t0002g0108 a0002c0002t0002g0111 a0002c0002t0002g0114 a0002c0041t0002g0060 a0002c0051t0002g0116 a0008c0011t0002g0029 a0046c0039t0002g0112	7	173	0.0405	303	c.321 others(320): Show c.3218+438_3218+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACATGATAGGGCCGCCGCCTCTTCCTGT GTTGCAAACCACAGGTCCACCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(296): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATAATATATTATATA TAATATATTATATATATTATATTATATATAATATATTATATATAATATAT TATATATAATATATTATATATATTATATATAATATATTATATAATATATT ATATATAATATATTATATATATTATATTATATATAATATATTATATATAT TATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	31	0.0323	303	c.-50 others(314): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATATTATATAATATATTATATATAATA TATATAATATATTATATATAATATATTATATATAATATATTATATATAAT ATAATATATATAATATATTATATATAATATATTATATATAATATATTATA TATAATATAATATATATAAATATATTTTTATATATAATAATTATATTATA TATAATATATTTTTATATAAATATATATTATATATTTTTATATAAATATA TATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNPLA7_chr9_137454952_137555402	137518569	C C	CCACTCCA others(296): Show CCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCATCCCCCGT CACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTCACTCCACTCTG TCCACTCCATCCCCCGTCACTCACTCCACTCTGCTCACTCCATCCCCCAC TCACTCGCTCCACTCTGTCCACTCCATCCCCCACTCACTCACTCCACTCT GTCCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCC GTCACTCACTCCACTCTGTCCACTCCATCCCTCACTCACTCACTCCACTC TGCT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0057 a0008c0010t0001g0057	1	166	0.0060	303	c.108 others(322): Show c.1084+1347_1084+1348insAGCAGAGTGGAGTGAGTGAGTGAGGG ATGGAGTGGACAGAGTGGAGTGAGTGACGGGGGATGGAGTGAGCAGAGTG GAGTGAGTGAGTGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGG GATGGAGTGGACAGAGTGGAGCGAGTGAGTGGGGGATGGAGTGAGCAGAG TGGAGTGAGTGACGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGGG GGATGGAGTGAGCAGAGTGGAGTGAGTGACGGGGGATGGAGTGGACAGAG TGGAGTGAGTGAGTGGGGGATGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PRKCZ_chr1_2045411_2190395	2122894	C C	CGGCTGTA others(296): Show CGGCTGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCT GTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGCATCAT GGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGG TCAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG03654.hp2 HG02004.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0107 a0001c0002t0001g0203 a0001c0001t0001g0107 a0001c0002t0001g0203	2	184	0.0109	303	c.335 others(322): Show c.335-12366_335-12365insCTGTAGTTAGGGTCATGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTGTAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTA GGGTCATGGCTGTAGTTAGGGTCATGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124099	G G	GGCTATAG others(296): Show GGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGT CACA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	277	0.0036	303	c.335 others(322): Show c.335-11161_335-11160insTATAGTTGGGGTCATGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGT AGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATC ATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGG GGTCATGGTGGTAGTTAGGGTCACAGC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124101	C C	CTGTAGTT others(296): Show CTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCA TGGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	159	0.0063	303	c.335 others(322): Show c.335-11161_335-11160insTGTAGTTAGGGTCATGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGT AGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTC ATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCACGGCTATAGTTGGGGTCATGGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124289	A A	AGGGTCAT others(296): Show AGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATG GTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGT CATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTA GGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTGGGGTCACGGCTATA GTTG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	169	0.0059	303	c.335 others(322): Show c.335-10972_335-10971insGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATG GTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTA GCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTA GTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGT GGTAGTTGGGGTCACGGCTATAGTTGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKD1_chr14_29571479_29932847	29575102	T T	TTTGTTTA others(296): Show TTTGTTTATTCACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCTCGGCTCACTGCAGGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0070 a0001c0003t0001g0070	1	152	0.0066	303	c.21 others(314): Show c.2135_*2136insCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCCT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGAAGTGAATAAACAA	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding		1376		chr14	TogoVar
PSMF1_chr20_1113602_1177246	1114459	T T	TCTGTAAG others(296): Show TCTGTAAGATGCCAGCTACAACCAACTGTATGCAAAGCAGTGTTGAACCA AGGGGTGGGGGTGACGGAGCTGTCTGCCCTGTAAGATGCCAGCTACAACC AACTGTATGCAAACCAGTGTTGAACCAAGGGGTGGGGGTGACGGAGCTGT CTGCCCTGTAAGATGCCAGCTACAACCAACTGTATGCAAACCAGTGTTGA ACCAAGGGGTGGGGGTGACGGAGCTGTCTGCCCTGTAAGATGCCAGCTAC AACCAACTGTATGCAAACCAGTGTCAAGGGGTGGGGGTGACGGAGCTGTC TGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0164 a0001c0003t0001g0164	1	326	0.0031	303	c.-43 others(314): Show c.-4315_-4314insCTGTAAGATGCCAGCTACAACCAACTGTATGCAA AGCAGTGTTGAACCAAGGGGTGGGGGTGACGGAGCTGTCTGCCCTGTAAG ATGCCAGCTACAACCAACTGTATGCAAACCAGTGTTGAACCAAGGGGTGG GGGTGACGGAGCTGTCTGCCCTGTAAGATGCCAGCTACAACCAACTGTAT GCAAACCAGTGTTGAACCAAGGGGTGGGGGTGACGGAGCTGTCTGCCCTG TAAGATGCCAGCTACAACCAACTGTATGCAAACCAGTGTCAAGGGGTGGG GGTGACGGAGCTGTCTGCC	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding		4142		chr20	TogoVar
RB1_chr13_48298751_48486890	48432363	T T	TTCTGCTT others(296): Show TTCTGCTTCTGATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCCCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATT TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG04228.hp1 HG00099.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0118 a0001c0001t0001g0119	2	304	0.0066	303	c.169 others(324): Show c.1696-20614_1696-20613insTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCCCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATT TTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTCTGCTTCTGATTCTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
RBMS2_chr12_56516820_56601193	56558297	C C	CGGCCTCC others(296): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCT TTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGTTCTGTCACCCAAGC TGGAGTGCAATGATGCAATCTTGTCTCACTGCACCTTTGCCTCCCGGGTT CAAGCGATTCTTCTGCCTCAGCCTCCCGAATAGGTGGGATTACAGGCATG TGGCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTG CCATATTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGAACCACCCG CCTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0109 a0001c0002t0005g0109	1	33	0.0303	303	c.67- others(318): Show c.67-4083_67-4082insTGCGCCTGGCCTTTTTTTTTTTTTTTTTTT TTTGAGACAGAGTTTTGTTCTGTCACCCAAGCTGGAGTGCAATGATGCAA TCTTGTCTCACTGCACCTTTGCCTCCCGGGTTCAAGCGATTCTTCTGCCT CAGCCTCCCGAATAGGTGGGATTACAGGCATGTGGCACCATGCCCGGCTA ATTTTTGTATTTTTAATAGAGATGGGGTTTTGCCATATTGGCCAGGCTGG TCTTGAACTCCTGACATCAAGTGAACCACCCGCCTTGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCAC	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
RETN_chr19_7664049_7675455	7671309	C C	CGCAACCT others(296): Show CGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCA CGTAGCTGGGACTACAGGCGCTCGCCACCATACCTGGCTAATTTTTGTAT TTTTAGTAGAGAAGGAGTTTCACCATGTTGGCTAGGTTGGTCTTGAGCTC CTGGCCTCAAGCGATTCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTAC ATGCATGAGCCACCGCGCCTGGCCTATTTTTTAATTTTTATTTTCGAGAC AAGGTCTTACTCTGGCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCT CACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	456	0.0022	303	c.96 others(312): Show c.960_*961insGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTG CCTCAGCCTCCCACGTAGCTGGGACTACAGGCGCTCGCCACCATACCTGG CTAATTTTTGTATTTTTAGTAGAGAAGGAGTTTCACCATGTTGGCTAGGT TGGTCTTGAGCTCCTGGCCTCAAGCGATTCACCCGCCTCAGCCTCCCAAA GTGCTGGGATTACATGCATGAGCCACCGCGCCTGGCCTATTTTTTAATTT TTATTTTCGAGACAAGGTCTTACTCTGGCGCCCAGGCTGGAGTGCAGTGG CACAATCTCGGCTCACT	RETN	ENSG00000104918.8	transcript	ENST00000221515.6	protein_coding		855		chr19	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(296): Show TAATATATATATAAAATATATATATAATATATATATATAAAATATATATA TATAATATATATATATAAAATATATATATATAATATATATATATAAAATA TATATATATAATATATATATATAAAATATATATATAAAATATATATATAA TATATATATATAAAATATATATATAAAATATATATATATAATATATATAT AAAATATATATATATATTATATATATATATAAAATATATATAAAATATAT ATATAATATATATATAAAATATATATATAATATATATATAATATATATAT ATAA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0166 a0002c0002t0001g0166	1	240	0.0042	303	c.67- others(316): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATAATATATATATATATTTTATATATATATTATATATATATATTTTAT ATATATATTTTATATATATATATTATATATATATTTTATATATATATTTT ATATATATATATTATATATATATATTTTATATATATATATTATATATATA TATTTTATATATATATATTATATATATATATTTTATATATATATATTATA TATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(296): Show TAATATATATATAAAATATATATATATAATATATATATAAAATATATATA TATAATATATATATATAAAATATATATATATAATATATATATATAAAATA TATATATATAATATATATATATAAAATATATATATAAAATATATATATAA TATATATATATAAAATATATATATAAAATATATATATATAATATATATAT AAAATATATATATATATTATATATATATATAAAATATATATAAAATATAT ATATAATATATATATAAAATATATATATAATATATATATAATATATATAT ATAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG04228.hp2 HG02083.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0178 a0002c0002t0001g0001 a0002c0002t0001g0178	2	241	0.0083	303	c.67- others(316): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATAATATATATATATATTTTATATATATATTATATATATATATTTTAT ATATATATTTTATATATATATATTATATATATATTTTATATATATATTTT ATATATATATATTATATATATATATTTTATATATATATATTATATATATA TATTTTATATATATATATTATATATATATATTTTATATATATATTATATA TATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(296): Show TAATATATATATAAAATATATATATATAATATATATATAAAATATATATA TATAATATATATATATAAAATATATATATATAATATATATATATAAAATA TATATATATAATATATATATATAAAATATATATATAAAATATATATATAA TATATATATATATAATATATATATAAAATATATATATATAATATATATAT AAAATATATATATATATTATATATATATATAAAATATATATAAAATATAT ATATAATATATATATAAAATATATATATAATATATATATAATATATATAT ATAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	240	0.0042	303	c.67- others(316): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATAATATATATATATATTTTATATATATATTATATATATATATTTTAT ATATATATTATATATATATATATTATATATATATTTTATATATATATTTT ATATATATATATTATATATATATATTTTATATATATATATTATATATATA TATTTTATATATATATATTATATATATATATTTTATATATATATTATATA TATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(296): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATAATATATATATATAAAATATATATATATAATATATATATATAAAATA TATATATATAATATATATATATAAAATATATATATAAAATATATATATAA TATATATATATAAAATATATATATAAAATATATATATATAATATATATAT AAAATATATATATATATTATATATATATATAAAATATATATAAAATATAT ATATAATATATATATAAAATATATATATAATATATATATAATATATATAT ATAA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0182 a0002c0002t0001g0182	1	240	0.0042	303	c.67- others(316): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATAATATATATATATATTTTATATATATATTATATATATATATTTTAT ATATATATTTTATATATATATATTATATATATATTTTATATATATATTTT ATATATATATATTATATATATATATTTTATATATATATATTATATATATA TATTTTATATATATATATTATATATATATTTTATATATATATATTATATA TATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(296): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATATAAAA TATATATATATAATATATATATATAAAATATATATATAAAATATATATAT AATATATATATATAAAATATATATATAAAATATATATATATAATATATAT ATAAAATATATATATATATTATATATATATAAAATATATATAAAATATAT ATATAATATATATATAAAATATATATATAATATATATATAATATATATAT ATAA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	240	0.0042	303	c.67- others(316): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATAATATATATATATATTTTATATATATATTATATATATATATTTTATAT ATATATTTTATATATATATATTATATATATATTTTATATATATATTTTAT ATATATATATTATATATATATATTTTATATATATATATTATATATATATA TTTTATATATATATATTATATATATATATTTTATATATATATATTATATA TATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(296): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATATAAAA TATATATATATAATATATATATATAAAATATATATATAAAATATATATAT AATATATATATATAAAATATATATATAAAATATATATATATAATATATAT ATAAAATATATATATATATTATATATATATATAAAATATATATAAAATAT ATATATAATATATATATAAAATATATATATAATATATATATAATATATAT ATAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0177 a0002c0002t0001g0177	1	240	0.0042	303	c.67- others(316): Show c.67-812_67-811insTTATATATATATTATATATATATTATATATAT ATTTTATATATATATTATATATATATTTTATATATATTTTATATATATAT ATAATATATATATATATTTTATATATATATTATATATATATATTTTATAT ATATATTTTATATATATATATTATATATATATTTTATATATATATTTTAT ATATATATATTATATATATATATTTTATATATATATATTATATATATATA TTTTATATATATATATTATATATATATATTTTATATATATATATTATATA TATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(296): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATATAAAA TATATATATATAATATATATATATAAAATATATATATAAAATATATATAT AATATATATATATAAAATATATATATAAAATATATATATATAATATATAT ATAAAATATATATATATATTATATATATATATAAAATATATATAAAATAT ATATATAATATATATATAAAATATATATATTATATATATAATATATATAT ATAA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	240	0.0042	303	c.67- others(316): Show c.67-812_67-811insTTATATATATATATTATATATATAATATATAT ATTTTATATATATATTATATATATATTTTATATATATTTTATATATATAT ATAATATATATATATATTTTATATATATATTATATATATATATTTTATAT ATATATTTTATATATATATATTATATATATATTTTATATATATATTTTAT ATATATATATTATATATATATATTTTATATATATATATTATATATATATA TTTTATATATATATATTATATATATATATTTTATATATATATATTATATA TATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(296): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATATAAAA TATATATATATAATATATATATATAAAATATATATATAAAATATATATAT AATATATATATATATAATATATATAAAATATATATATATAATATATATAT AAAATATATATATATATTATATATATATATAAAATATATATAAAATATAT ATATAATATATATATAAAATATATATATAATATATATATAATATATATAT ATAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	240	0.0042	303	c.67- others(316): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATAATATATATATATATTTTATATATATATTATATATATATATTTTAT ATATATTATATATATATATATTATATATATATTTTATATATATATTTTAT ATATATATATTATATATATATATTTTATATATATATATTATATATATATA TTTTATATATATATATTATATATATATATTTTATATATATATATTATATA TATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RNF17_chr13_24759169_24884921	24881964	A A	ATATAGAT others(296): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	399	0.0025	303	c.22 others(314): Show c.2238_*2239insTATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2044		chr13	TogoVar
RNF213_chr17_80255852_80403794	80313836	A A	ATGGTGGA others(296): Show ATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGAGGTGATGGTGGAGGT ACTGGAGGTGATGGTGGTGGTGGAGGTGATGGTGGAGGTACTGGAGGTGA TGGTGGTGGTGGAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTG GAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGAAGGTGATGGT GGAGGTAATGGAGGTGATGGTGGTGGTGGAGGTGATGGTGGAGGTACTGG AGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTACTGGAGGTGATGGTG GTGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01071.hp2 others(3): Show HG00738.hp1 HG01069.hp2 HG01071.hp2 HG02735.hp1 NA18973.hp2 NA19062.hp2	a0001 a0002 a0071 a0001 a0002 a0071	a0001c0001 a0002c0002 a0071c0073 a0001c0001 a0002c0002 a0071c0073	a0001c0001t0001 a0002c0002t0002 a0002c0002t0026 others(1): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0026 a0071c0073t0053	a0001c0001t0001g0222 a0001c0001t0001g0223 a0002c0002t0002g0117 others(2): Show a0001c0001t0001g0222 a0001c0001t0001g0223 a0002c0002t0002g0117 a0002c0002t0026g0001 a0071c0073t0053g0158	6	287	0.0209	303	c.281 others(320): Show c.2811+701_2811+702insGAGGTGATGGTGGAGGTACTGGAGGTGA TGGTGGTGGTGGAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTG GAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGAGGTGATGGT GGAGGTACTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGG AGGTGATGGTGGTGGTGGAGGTGATGGTGGAGGTACTGGAGGTGATGGTG GTGGTGAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGA GGTACTGGAGGTGATGGTGGTGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	294836	A A	ACAGAGGG others(296): Show ACAGAGGGAATGCACATCAGTGTGGGAGGGACACAGATGCTGCAGAAATG GACAGCAGAGGGAATGCACATCAGTGTGGGAGGGACAGAGATGCTGCAGA AATGGATGGGCAGAGGGAATGCACATCAGTGTGGGAGGGACAGAGGAGCT GCAGAAATGGACGGGCAGAGGAAATGCACATCAGTGTGGGAGGGACAGAG GGAATGCACATCAGTGTGGGAGGGACAGAGGAGCTGCAGAAATGGATGGA CAGAGGGAATGCACATCAGTGTGGGAGGGACACAGATGCTGTAGAAATGG AAAG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02738.hp1 NA18951.hp2 others(1): Show HG01358.hp1 HG02738.hp1 NA18951.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0002t0002	a0001c0001t0002g0028 a0001c0001t0003g0096 a0001c0001t0012g0006 others(1): Show a0001c0001t0002g0028 a0001c0001t0003g0096 a0001c0001t0012g0006 a0001c0002t0002g0038	4	130	0.0308	303	c.352 others(322): Show c.352-12983_352-12982insCTTTCCATTTCTACAGCATCTGTGTC CCTCCCACACTGATGTGCATTCCCTCTGTCCATCCATTTCTGCAGCTCCT CTGTCCCTCCCACACTGATGTGCATTCCCTCTGTCCCTCCCACACTGATG TGCATTTCCTCTGCCCGTCCATTTCTGCAGCTCCTCTGTCCCTCCCACAC TGATGTGCATTCCCTCTGCCCATCCATTTCTGCAGCATCTCTGTCCCTCC CACACTGATGTGCATTCCCTCTGCTGTCCATTTCTGCAGCATCTGTGTCC CTCCCACACTGATGTGCATTCCCTCTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar

Search by Variant

Search

Search Results