Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
P4HA3_chr11_74261657_74316640	74311411	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0045 a0001c0001t0007g0045	1	396	0.0025	0	c.200 others(5): Show c.200+1G>A		P4HA3	ENSG00000149380.12	transcript	ENST00000331597.9	protein_coding	1/12					chr11	TogoVar
PABPN1L_chr16_88858333_88871660	88865562	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	450	0.0022	0	c.459 others(5): Show c.459+1G>A		PABPN1L	ENSG00000205022.9	transcript	ENST00000419291.7	protein_coding	3/6					chr16	TogoVar
PAF1_chr19_39380629_39396106	39386479	TACCTGAG others(35): Show TACCTGAGCCCCCAGCTTCTTTCTCTTCTGTCTCCATCTCCTC	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18979.hp2 NA18979.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0026 a0003c0008t0001g0026	1	366	0.0027	-42	c.114 others(53): Show c.1144_1183+2delGAGGAGATGGAGACAGAAGAGAAAGAAGCTGGGG GCTCAGGT	p.Glu others(5): Show p.Glu382fs	PAF1	ENSG00000006712.15	transcript	ENST00000221265.8	protein_coding	13/14		1144/1596	382/531		chr19	TogoVar
PAK2_chr3_196734857_196837647	196806643	CTGCTCCT others(39): Show CTGCTCCTCCCGTTATTGCCCCGCGACCGGATCATACGAAATCAGTG	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0157 a0002c0005t0001g0157	1	176	0.0057	-46	c.534 others(55): Show c.534_576+3delTGCTCCTCCCGTTATTGCCCCGCGACCGGATCATAC GAAATCAGTG	p.Ala others(5): Show p.Ala179fs	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	6/15	856/6139	534/1575	178/524		chr3	TogoVar
PAMR1_chr11_35426827_35530616	35468000	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	376	0.0027	0	c.820 others(5): Show c.820+1G>A		PAMR1	ENSG00000149090.13	transcript	ENST00000619888.5	protein_coding	6/10					chr11	TogoVar
PANK4_chr1_2503537_2531596	2510055	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	398	0.0025	0	c.203 others(6): Show c.2039+2T>G		PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding	17/18					chr1	TogoVar
PAPLN_chr14_73232506_73279623	73239833	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA20805.hp1 NA20805.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0003 a0008c0014t0003	a0008c0014t0003g0103 a0008c0014t0003g0103	1	416	0.0024	0	c.54+ others(4): Show c.54+1G>A		PAPLN	ENSG00000100767.17	transcript	ENST00000644200.2	protein_coding	2/26					chr14	TogoVar
PCDHA7_chr5_140829269_141017347	140835389	GTTCTTGT others(14105): Show GTTCTTGTGGAAGTTGTGGATGTAAATGACAATGCTCCACAGTTGACTCT CACTTCCCTGTCTCTCCCTATTCCAGAGGACGCCCAACCAGGTACCGTCA TCACATTGATTAGCGTGTTTGACCGAGATTTTGGAGTCAACGGACAGGTT ACCTGCTCCCTGACGCCCCGCGTTCCCTTCAAGTTGGTGTCCACCTTCAA GAATTACTATTCATTGGTGCTGGACAGCGCTCTGGACCGCGAGAGTGTGT CCGCCTATGAGCTGGTGGTTACCGCGCGGGACGGGGGCTCGCCTTCTCTG TGGGCCACTGCTAGCGTGTCCGTGGAGGTGGCCGACGTGAACGACAACGC CCCGGCGTTCGCGCAGCCCGAGTATACGGTGTTCGTGAAGGAGAACAACC CGCCGGGCTGCCACATCTTCACTGTGTCGGCGGGGGACGCGGACGCGCAG AAGAACGCGCTGGTGTCCTACTCGCTGGTGGAGCTGCGGGTGGGCGAGCG CGCGCTGTCGAGCTACGTGTCAGTGCACGCGGAGAGCGGCAAGGTGTACG CGCTGCAGCCGTTGGACCACGAGGAGCTGGAGCTGTTGCAGTTCCAGGTG AGCGCGCGCGATGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCA GGTGTTCGTGCTGGACGAGAACGACAACGCGCCGGCACTGCTGGCGCCTC GGGTGGGTGGCACTGGTGGCGCAGTGAGAGAGCTTGTGCCGCGGTCTGTG GGCGCGGGCCATGTGGTGGCGAAGGTACGTGCAGTTGACGCTGACTCAGG CTACAACGCGTGGCTTTCGTATGAGTTGCAACCGGTGGCGGCCGGTGCGA GCATCCCGTTCCGCGTGGGGCTGTACACTGGTGAGATCAGCACGACACGA GCCCTAGATGAGACGGACGCACCGCGCCACCGCCTTCTGGTGCTTGTGAA GGACCACGGGGAGCCCTCGCTGACAGCCACAGCCACCGTGCTGGTGTCGC TGGTGGAAAGCGGCCAGGCACCAAAGGCGTCGTCGCGGGCATCGTTGGGC ATTGCAGGCCCAGAGACCGAGCTGGTGGATGTCAACGTGTACCTGATCAT CGCCATCTGCGCGGTGTCCAGTCTGTTGGTGCTTACCCTGCTGCTGTACA CGGCGTTGCGGTGCTCAGCGCCGTCCTCTGAGGGCGCATGTAGTTTGGTA AAGCCCACTCTGGTGTGCTCCAGCGCGGTGGGGAGCTGGTCATTCTCCCA GCAGAGGCGGCAGAGGGTGTGCTCTGGGGAGGGCCCACCCAAGACAGACC TCATGGCCTTCAGTCCCAGCCTTCCTCAGGGTCCATCCTCTACAGACAAT GTGAGTCATAAATAATCTTGTTTCCAACAATTTTAAAACAATTAGTTCAA TTGGTCTCCTTAAATTTTCTTTCATAATTTCTTTTTTAGTTGATAGCTTT ATGTATAATTATTATTTTTTAATGTTATGCTGTATTTGCACTAATTATTT GGAAGTACGTTTAATATACACTTTTGTTTTGGGATGCGTAATACTATAGA TCAAAATCTATGGTTTATGTTGGCTACTCTCCATTTTTGGAGGAGGACTT TGCTAACTGGAGCAATGGATTCACCTTTCTTCTATAGTGTATTTACAAAA TCAAATATTTACATTTCCATATTTTGATAATCAATACCTATAAATGTTAT AGTAAACAAATTTAATATATATGTTACCTAATATTTTATTCTATGTATTG TCCTCATTTTATAAAATATAGCTGTGTCAAAATCATCTGTTCAATTTTGC CTTTTTATCTTTAGTCTAGAACTTGAATTTTAAGCATTTCTTTTACATCT ATTTATCTTCTTTTTATCATATTTGTGTAGCACTGACTTCTTTTTAACTT ACTTTGTTGAGATGTATTTGCCATGTTCATGAAGAATTAATATGAACAAT TTAAAATAGTTTAAATGGCAGTTTAATAGTATTTTTTATTTTGTTCCTTG TTTGTATAAGAAATATATTCACATTCAAAATTTCAAAGAGTGAAATCTAG TACGTAGTAAAAAATCTCCTTGCCTCCTCAAACCCCAAACCATTTACTTT ACCTTTCTGAATTTCTGAAGCAGTTTACTTTTTTTGTATATTCCCAAGAT TATTATTGCCAAATTATATAAATATATTTACAATCACCAAATTGTAAATC GCCAATATATATATTTTATAATTTGCCCCTTCCTTCCTTCCTTCCTTTCT TTCTTTCTTTCTTCCTTTTTCTTTCATTCTTTTTCTTTTTTCTTTCTTCT TTCAAGACACGCTCTCACTCCATCACCCAGGCTGCTGAAATGCAGTGGTG GGATTATAGCCCACTGCAACCTGAAAGTCCTGGGCTCACAGGATCCTCCC ATCTCAGCCTCTGGAGTAGCTGGGAATACAGTTTGCATGTCATTGTGCCT GGCTAATTTTATTTTATTTTTGTAGAGACAGGGTGGAGTCTTGTTTCCCA GGCTGGTCTTGAACTCCTGGCTTCAAGCGATCCTCCTACCTTGGCCTCCC AAAGTATTGGGATTACAGACACGAACAACCACACCCAGCCTGCCTTTCAT CTTTCCTTTTTTTTAAAAAAAGAAGTGATTACAGTAGAAACCTACCTTTC TGCACTTTTTGGTTTTCCACTTTAAGTTATATATATATAGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGACAG AGTTTTACTCTGTCGCCCTCTCTGGAGTGCAGTGGTGCAATCTCAGCTCA CTGCAAAATCCGCCTCTCTGGTACAAGCAGTTCTCATGCCTCAGTCTCCC AAGTAGCTGGGATTAAAGACGCCAACAACCAAGCCATGCTAATTTTTTTT TTTTTTTGTATTTTTAGTAGAAACAGAGTTTCACCATGTTGCCCCGGCTG GTCTCGAAATCTGGGACTCAAGTGATCTGACTGCCTCAGCCTCCCAATGT GCTGGGATTACAGGAGTGAGCCACCGCATCCGGCCTAAATTATATATTGG GTTTTGTGGCATATTATTTCATTAGCGCTTATTCCTTGTTTTTGATTATT TGCTTTCTTATTTTTAAAAGTATTTGCATCTTATTTTCTTTTATGGATAT ATCATGATTTATTCATCCAGTACTGTATTAGGGACATTAATGAAACAATA ACCGAATTGTCTAGACTTTTAAAAATTTTTTACAAATAATTTGGTTGGTC AAAAAAATGATAGTTAACGGGGCATGGTGGCACACACCTTTAACCCCAAC ATTTCGGGAGGCCGAGGCAGGAGGATTGCTTCAGTCTAGTAGTTTGAGAC CAGCTTGTGCATCTTTTGTAGAGACTTTGTAAAATTAGCTATGCATGGTG ATGCATGTCTGTAGTTTCAGCTACTCAAGAAACTGAGGTGGGAGGATCAC TTAAGCCAGGGAGGTCCAAGCTGCAGTTATCATGCCACTGAACTCCAGCC TAGGTGACAGAGCAATACCTTGCCTCAAAAATAAAATAAAATGAAATAAT AAAATAAAATAAAATAAAAACCCAGAACTGACAATTTTCACTGTTCCTAA TATTCTAATATACTTTAGTAAATTATTTTAGGATATGTTACTGTTTTCTT TTCAACGTGAATAAGGATAGAGGTATGCAAAGTCAAAAACCTGTCTGATA ATCAATAGAATTATTTACCATTAAGCCATAATATGTCATTCACATAAGCA GACCAAGTTTGCTGCTCTTGTTGAAAGATATTCAGTTTTGTGGAAAAATC TATAAATATCTTTGACCTTCAAAGATGTAACTGTAATCTGTTTTTATTGC TTTGCTTTTATGCTTACATGCATGTATATTTAAAACCTTCCTAGCATATT ATTAAAGTTTTAAATATCCTATTTATATTGGGAAATACCTGAAGTTGATA GGGGATCCTCCTTAGCCACCTAAGCTGTATTCATCAATTATTATGATGAT GATGATGATTATTATTTTTGAGACAGGGTCTCACTCTGTAGCCCAGACTG CAGTGCAGTGGCACAATCTGGGCTTACTGCAATCTCTGCCTCCTGGGCTC AAGTGATCTTCCTACCTCAGCCTCTCAAGTTGCTGGGACTATAGGCACAC ACCACCATGCCCAACTAATTTTTGTATTTTTTGTAGAGATGGGGTCTTAC CATGTTGCCCAGGCTGGTCTCAAACTCCTGAGATATCGAGAAATACTATT TTCTTTACAAATTGTTTGCTACTATTTAGAGTCAACTACAGAGATTTTTT TGGGTAAATAATGTGATGACAAATTTAAATCATTTCACAGAAAATACCCT TATTTGCCTTTCCTATTTAACCTACGTTTTTGGTAAGAATTTTGTAGAAA TTTGGAGGAGCTCTTAATTGCCTACTATGAAGGCATTCATGATGAATCCA TGGAGAATTTACTTTTGAGGTGGACTTTGAAAGATGAATAGAATTTTGAC AGAAAAAGATGAAGTAATAGAAGAAAAACCTTGAACAAAGAGTGTGCCAA GAAGGAGACAACATATTTTCTGTAAAATATGACTCCTATTGGAAAGTGGT TAGCCTTAGCACTGAGAAGATTGGCTCATGGTCACGTAGCGTATCTCCCA GATGGAAGTCTAATGTCTTGACAATTAGTCAATAGAAAGATAAACTTGTT GAAGATTTTAGTGAAATCGAGTGAAAGCTGTACTAATAAGGACAGAAATT ATCACACGTGAAAGGAGAGATGGGATGTATACAAATTTTAAATATGGTAG GCAAAGGAAAAGAAGTCATAAAAATACATATGAGTAAATGTGGAGAATCA CTATGCTATAAAAATTGTGATTTTTTAATGATTTGGGTTTTGGGTGATTA TTGATTAGATATTCTTTTAACTTTGGTCGACTCATTTTCTAGGCAATGTT AGGGTATACAGGTAAAAATGTCAGGTAGAAAATGAAAATAGGGGGTTGCA GATATGGAGTTAAGAATACTTCAAATAATAGGCTAGTTTAAAGCCGTGGA AATAGAAACGTTAAATAAAAAGTTGGGGAAAAAAGTTTAAAGGCATAATT CTGGTAAATACTCACTTTTTGGAGCAGAAGAAAGATGAAGAACTAACAAG CCAATGATGGCAATACTGCTAGAGTTTGGCATGTCAGAGAAATCATAAAG GAAAATGTTTTAAGTGAGAGGCTGAATTTAACAAGCTATAGAGATATAGA GAAATAGTGTAAAGAATATGCACATACATTTTTATTACTTTAGTAAATAA AACGGTTCAGGCAATTTGACATTTATTGAATAAAGAAAAGCAAAAATTTA ACAATAAGAACACAAGAAGATAAAATGTAGAAAAGTTAGAATTATATGCT CACCTCAGAGTAATATATACCAGTGTTTCTGGTGACCAAATAAATATTAA TGCATTTCTTCCACACGAAACTATGGAGGACAGTTTACATTTCTGATATC CATGACATACAGGTCATACTTAAATTTATTATTAATTGATACGATATTTG AAATATTGGGAAGAAATTCCTTTCCTTATGAAGAAGAAATCCCTAGCTGA AACTAATGTAAGGAGCCAGACAGTATGAATGCCTCTGCAATTGATAAAGT TAAGGATTTACTATTAAATTATGATAAAGAAATAGAAAGTGCATAGAAGA ACCCAGATATTGCGGAAGTAATTCATGTAATCATTACCTTTTGAAGCCAC ATGATGTCGCTGTCTACCAAGAAGTTCTGGTTGGTCAATGTTCAAAGTCT TTTCTCTGACAGCATCTGTCTCTAAAGGCCGAACAACGGGAGATGCAGCG GAATTGGATTAAAAGACTCTGAAAGTACAGTCGTTCATCTTTATATTAAG ATAATATTTTCTGATAGGAAACGACTATTTAACATGGATTATCACTGGCG AGGAGAGCTGGGATCCTGGCGACTACTACTCTTGCTTCTGCTCCTCGCAG CCTGGAAGGTGGGGAGCGGCCAGCTCCACTACTCCGTCCCCGAGGAGGCC AAACACGGCACCTTCGTGGGCCGGATCGCGCAGGACCTGGGGCTGGAGCT GGCGGAGCTGGTGCCGCGCCTGTTCCGGGTGGCGTCCAAAAGACACCGGG ACCTTCTGGAGGTAAGTCTGCAGAATGGCATTTTGTTTGTGAATTCTCGG ATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGCAGCATCCACCT GGAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCATGTGGACGTGGAGG TGAAGGATGTTAATGACAACCCGCCAGTGTTCCGGGTAAAAGACCAAAAG CTGTTTGTTTCAGAATCCAGAATGCCAGACTCTCGGTTTCCGCTAGAGGG CGCGTCCGATGCAGATGTTGGAGCTAACTCCGTGTTAACCTACAGGCTTA GCTCTCATGATTACTTCATGCTAGATGTGAATTCAAAGAACGATGAGAAT AAACTGGTTGAGCTCGTATTAAGAAAATCCTTGGACAGAGAGGACGCTCC TGCGCACCACTTATTCCTGACAGCCACAGATGGGGGCAAACCTGAGCTCA CAGGCACTGTTCAGCTGCTGGTCACAGTGCTGGATGTGAATGATAATGCT CCCACTTTCGAACAGTCTGAATACGAAGTAAGAATATTCGAAAACGCAGA CAACGGAACAACAGTTATCAAACTGAATGCTTCTGATCCGGATGAAGGAG CCAATGGGGCAATTTCATATTCTTTTAATAGCCTTGTTGAAACTATGGTT ATTGACCACTTTAGCATAGATCGAAATACGGGAGAAATAGTGATTCGGGG TAATTTGGATTTTGAACAAGAAAACTTATACAAAATCCTCATTGACGCCA CGGACAAAGGCCATCCTCCCATGGCGGGTCATTGCACCGTTTTAGTGAGA ATTTTGGATAAAAATGATAACGTCCCTGAGATAGCACTGACTTCCTTATC CTTGCCTGTACGTGAAGACGCTCAATTTGGTACTGTCATCGCCCTAATTA GCGTGAACGACCTCGATTCAGGTGCCAACGGGCAGGTGACCTGCTCCCTG ATGCCCCATGTCCCCTTCAAGCTGGTGTCCACCTTCAAGAATTACTACTC GTTGGTGCTGGACAGCGCCCTGGACCGCGAGAGAGTGTCGGCCTATGAGT TGGTGGTAACCGCGCGGGACGGGGGCTCGCCTTCGCTGTGGGCCACCGCC AGCTTGTCTGTGGAGGTGGCCGACGTGAACGACAATGCTCCGGCGTTCGC GCAGCCCGAGTACACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCC ACATCTTCACGGTGTCTGCGCGAGACGCGGACGCGCAGGAGAACGCGCTG GTGTCCTACTCGCTTGTGGAGCGGCGGGTGGGCGAGCGCTCGCTGTCGAG CTACATTTCGGTGCACACGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGC TGGACCACGAGGAGCTAGAGCTGCTGCAGTTCCAGGTGAGCGCGCGCGAC GCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCT GGACGAGAATGACAACGCGCCGGCACTGCTGGAGCCTCGGGTGGGTGGCA CTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTGGGCGCGGGCCAC GTGGTAGCGAAGGTGCGCGCAGTGGACGCCGACTCGGGCTACAACGCGTG GCTTTCGTATGAGCTGCAGCCAGCTGCAAGCAGCCCTCGCATCCCGTTCC GCGTGGGGCTGTACACGGGCGAGATCAGCACCACTCGTGTCCTGGACGAA GCGGACTCTCCGCGCCACCGTCTGCTGGTCCTGGTGAAGGATCATGGTGA ACCTGCGCTGACCGCCACGGCCACGGTTCTGGTGTCGCTGGTGGAGAGCG GCCAGGCTCCAAAAGCGTCATCGAGGCAGTCGGCTGGCGTTTTGGGTCCG GAAGCGGCGCTGGTGGATGTCAACGTGTACCTGATCATCGCCATCTGCGC GGTATCCAGCCTGCTGGTGCTCACGCTGCTGCTGTACACTGCGCTGCGGT GCTCAGCACTGCCCACTGAGGGCGGGTGCCGGGCGGGCAAGCCCACTCTG GTGTGCTCCAGTGCGGTGGGGAGCTGGTCATACTCGCAACAACAGCCGCA GAGGGTGTGCTCTGGTGAGGGGCCACCGAAGACGGACCTCATGGCCTTCA GCCCCTGCCTTCCTCCTGATCTGGGATCAGTTGATGTAGGCGAAGAGCAA GATTTAAATGTTGATCATGGCCTCAAAGTAAGTCCATTTAAATTTAGAAC TCATAAATTCTATTTGTGGAAATTGTAGTTACTTTAAAAGTGTTTCAGAT TTAGTTTTTCACCGTATTTTATAGTGAAAATTTAAACATTGTTTAGTTTT TAGAAACCTTTTATAATTAATTGAATTTTCTCAGTGGCATAATACAGTAT TAATCATTCTCCACAAGTTGGGTCTATCTTGAAACTCAAGTTATGGTTGG ATGATATCCATTTTTTACTGAATATTTATTTTGGCCTGCCTTACAGCCGT CTTCTCTGAACAATACTCTAAGGACGTTCAGGGCATTTTGATCTTTGGTG AAAGTATTCCCCCAAAGCGTTTATTCTTTTGTCCTTAGGCACTGAACTCT TAATCTTACTCCATATGCTGTACTTTGAAATGCATGTTTTAAATATGTTG TCTTTATATTTACTTTTATTCACTTTAAGATCTCGGTTTATTCATCTTAT CTGACTTTTTAGTGTCTGGTAGTCACAAATATCTTTGGTGTTTCACTATT GCCGTTTTAAGCAGTGTAGTGATAAAATACAGAATGATAGTGTTTTTCAA AATTTGATAGTTTTCATATTCTTCCTAATTTTATTATAAACTAGTTAAAA AGTAAAATCAAGAGGGAAGAGATTTGTAATCCTTCTTTTAATTCATTATT TAGACCATTTTACCATTTGGAGACATGTTTTTTATTCTACATGATTTTTA CAGTTGTATTGTCGCCAACTTAACATTTTTTGAGCCTCTATGTTTAGGAA ATGATTACTTTATTCTTGCAAGTATCTTCTAAACTCTAATCATTCAACCC TTTGTTCATGAGTTGGAATATTTTCAATAATATTCCACATTAAAGTGATA TTTAATATATGACTTAGAAAAATGTTTTCATCAGAAAAACTATACATGAT AATTTCATTCTTGCAAACCAAACATATAATTTATAAATCCTTATTATACA GAATATTTGGGATTATCATGGCCCATTAGTTCGTGTAAAAATATTTAGTA TTATGGGATAAATCTTTGAAAAATCCAAGATACTTTATTTTGGTATCTTT CAACATTTTCTTTCTTTTATTTCTTCTTGTCTTTTTACACGTTTGCTTCT TGTGACTGTTGGACCTGCCTGGATATTAAATACCCATTAGACTTCGTGCA TATTGCTTTGGAGAGAATGGTAGAAATTGATGGAAGGGAATGAACGATTT CTGGGACTCTGAATTCTTACAGTTTGTTATTAGTATTGTTTTAAATCTTT TAATCACTTATGAACAAATAATGTAATCATTTATGGGCATATTTTAGCCC CCTTGTCCAACTGAAGGTAACCTCAAAGCAGCATTGTTTTGTAGTTTATT TTACAGTTCTCTTAATGCCTGTCCATGTTTAGCATTTTATTTGACTATTT GAACACATTGTGTAAAAGCGAATTGTTTTCATTTTAGTCCTTTAAAAAAT ATGATTGTTTTCATTTAAGTCCTTTTAAAAAATATGATTATCTTTATTAT CCTGTTTGAATAATATGTGTTTTCCTTTGTGAAAGTAATATTTCCTATCC TGTCTATGTCTACCTGGTTCTCAGGTATTACTTTAATTACTGAATTCTCC TAAACATTTAATTGACTTTTACAAAATATCATAAATAGGAGGATTCTTTC CACCACCTAGCATTGTATTTGGCAATTTATCATTTAAGTCATTTTAGTTC TGTTTTTCTTCAACTCTCTGATATTTGAATTTGGGGTTGTGCTTTCACAG TGAGAAAGTCTAAACCTATTTCTTGTACATTAATACTTTTCACTATTCTA ATTATGGTGATGCTTTTAGCTATTAAGAATTTCTGGGATTGAAATGTGTC AGAAGTTAGTTATTAAGTATTGTGGATTCTGAAGCTCTCTAAATCAAGTC CTCCCTTTACCAATTTTTGTATGTGTAGCCATTGGTAAAGGATTTGTTAT TCAGTTCCTTGGCATTATATGTATGCATGATAAATGTGAATTCTACTTTA TAGATTTATTTGTATCAAGTAAGTTAATAGTTATAAATTATTAATAATAA ACTCTGGCAAGTGATAGGTACATAATAAAATTTAGTTATTACCATTCTTA AGAGAAAAGAAGTTAGTGATTGCAGAAAGGCAACCTAAAATGTCAGAAAG TCGTTATGGCCTTCCATATTAATCTTATTTTTGTGTAAAACTATCTTCTG TAAAGTCATTTTTTAGATTAACCTAGGATGTTTCAATATTTTGAATGTTG TGTGGTGGAATGAAAAAAATCTAAAAGTTATTACGAGTTTAGGAAAGTCA AGTTAACACCACCTATGTGGGAAAACAGTTTTTTGGAAAGGTTAAAGTCC TTCCAAGGAATGTGTAGACTATCTTACTTTGATAGTTGTATGTTTCCCAT ATTTAAAAGTTGCCTGAGATCCTGCAGAGGCCTGAGTAGGCGTTTGAGTT CTTTGTATGTATGAGATCTTTCCATTAATAGTATTTTTCTTAAAAAGAAG TATACAATAATGTTTTGATGATGATTTAAAGTCAATTTATGTTGTAGTTC TATGAATTAAGTAAACCATTTATGTAGAGTGTTGTAAATAGCCTTTTAAA GTGCTTTCTCTTTTTTCTTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTATCTCCCAGGCTGGAATGCAGTGGCGCA ATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTTC CTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCTGC TAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCCTGATCCGCCCACTTCGGCCTCCTAAAGT GCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCTAAAATGCTTTCTTA GCAAGTAGAGAAGATTGTAATAACCAGTCTTCATTAAACATTAAATAGGA CCCTTACAGATCTCTAACAGCATATCATCATGTCAGGAATTATTACTGAG CCCCAGCCCCTGGCTTTAAAATTTGAGGTCAAATAAAGAATATGAGTCAC ACAATGCAAGGCAAGATAATGTAACAGGTACAAGAGGTAAATCAGAATGA CGTTGAAGTTGAAAGACAATCATTTCCTATTTGAATTTTTGAAGAAATAC TTGAAGGGGCATGGTGTGTTTCAGTGGTTTTAAAATAAGTAAGTTCCCCC CGGGAGAATATTGAGAATGATAGACATTTCTTGGAAAGAGAAAACATAAG GAAAGTTGAAGACACAGAAAGCATCAATATGACAAGTAGAAAAGTCCACT TTGGTTAAAACACACAGTCTGCAGAGAATGAAAGCAGGAAAACCAATGTA AGAAGATCTCTTGATTTCTGAGTAATAAACTAAAGGGCCATGAGTGATTA AGGAATTTGGCCACTCTTTAGAATTAATTGGGAGCTATTTAACTACCTTG AGCAAAATAAATCACGACTTTTGAAAGAAGGTTGAACGGGAAGACAAACT CAGAAGCTCCTGCAGTAATCAAGGACAGAAGCAATTGTTAAATGCACCTC TTAGGCTGTTATCAGTAGAAATACGAAATAAAAGATAAATATGCAAAAAC ATTAATGGCACAATAAACACTCACGGTTTTGCCTTTAGACTTGAGATACA CTAAAATCTAGATTTAATTAATCGACTTGGACGTTGGAATAAGATAGTAA AACTCACAACAAAACTTTGTAGAACTTAGTCAGGAAAAGAATCTCAAGCA TAGCTTTAAAAACAGAAATTGCCCCGAGTACTAAGGATGAGCAATAATGA AATTAAAACATATTGTAATAACATTACACAAACTATATTGGAGACTACAA AGAAGAGATTATTCATAGATTATAAAGCTTGGAAAGAATCAAAACAACAC ATTTCTGGAAACAGATTGTATAAATGCTACAAAAGAGAAAAATATATTTT CTCCCCACGCAACACAAGACCTTAAAGTCAATTCTCGCTTTTCTTGCAAT ATTTTATACCTTTTCAATTCATAGAATTACTCAAGAAAACTACCTCAGTT GGTTGCTACTTTTTGTTGATTCCTTTTACCAGACATGACTAAGTTTCTTT TTCATCAGTAGATTTCTGGGCTCCTATATTCACTAGAGATTGCAACTCCT GGATTTCTCTTACACTAGAATCCTATTTCGAGCCATATGGGAGATTCTGA ATTCCAGAACAAAAGAATTTTGTAATTTAAAATTCGTGATTGCTCAATGG AATCATTTTAATTGTTACTTCATTTCTGTCGTTATTTAAAACTTAAGTGG AGAGTTTTCTCAGGGATAAGAAAACCACAATCAAGGTCATACAAAACTTT TAGAGGCAGTCAGTCTGCTAAGAAGGCTCCAGCAAGAGAAACGGGATCTT CTGTTTCAACAATCATTACTTAAGAAAAAATTAAGAAAATGAAATAAGTT TTGCAGAATAACTGTGAAATTTTTATTCATGAAATATGTACTTACACTTT GGGCCACGTGATGTCACTCTTTGCCGCGATGTTCTCTCTGAATCCAGACA AATACAGCCCTTTTCCCATGGGAAAGAGGCTCAATTCTTTTTCACTCTCT CTGTGCTGAACGATGGCGAACACAGCAGAATGGGACTGACGAAATCAGAT GATTTCTTCTAATTTGGAGGCAATTTTCACTAATTAGAAGAAGACTGAGT ATTTGAAATGTTATACTCAAGTCGAGGAGATCCAGAGGGTCAGCCTCTAC TGCTCTCGCTTCTGATCCTCGCAATGTGGGTGGTGGGGAGCGGCCAGCTC CACTACTCCGTCCCGGAGGAAGCCGAACACGGCACCTTCGTGGGCCGCAT CGCGCAGGACCTGGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCC AGTTGGATTCCAAAGGCCGCGGGGACCTTCTGGAGGTAAATCTGCAGAAT GGCATTTTGTTTGTGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCG GAGCGCGGAGTGCAGCATCCACCTGGAGGTGATCGTAGACAGGCCGCTGC AGGTTTTCCATGTGGACGTGGAGGTGAAGGACATTAACGACAACCCTCCA GTGTTCCCAGCGACACAAAAGAATCTGTTCATCGCGGAATCCAGGCCGCT TGACTCTCGGTTTCCACTAGAGGGCGCGTCCGATGCAGATATCGGGGAGA ACGCCCTGCTCACTTACAGACTGAGCCCCAATGAGTATTTCTTCCTGGAC GTGCCAACCAGCAACCAGCAGGTAAAACCTCTTGGACTTGTATTACGGAA ACTTTTAGACAGAGAAGAAACTCCGGAGCTTCATTTATTGCTCACGGCCA CCGATGGAGGCAAACCCGAGCTGACTGGCACCGTTCAATTACTCATCACG GTACTGGACAACAATGACAATGCCCCAGTGTTCGACAGAACCCTGTATAC GGTGAAATTACCAGAAAACGTTTCTATCGGAACGCTGGTGATTCACCCCA ATGCCTCAGATTTAGACGAAGGCTTGAATGGGGATATTATTTACTCCTTC TCCAGTGATGTTTCTCCAGATATAAAATCCAAGTTCCACATGGACCCCTT AAGTGGGGCAATCACAGTGATAGGACATATGGATTTTGAAGAAAGTAGAG CACACAAGATCCCAGTCGAGGCTGTCGATAAAGGCTTCCCACCCCTGGCT GGTCATTGTACAC	G G	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG02015.hp2 HG02015.hp2	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0001 a0006c0015t0001	a0006c0015t0001g0247 a0006c0015t0001g0247	1	245	0.0041	-14112	c.105 others(15): Show c.1054_2355+12810del	p.Leu others(13): Show p.Leu352_Asn785del	PCDHA7	ENSG00000204963.6	transcript	ENST00000525929.2	protein_coding	1/4	1169/5339	1054/2814	352/937	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA8_chr5_140836187_141017347	140842552	AGCGCCCT others(16784): Show AGCGCCCTGGACCGCGAGAGAGTGTCGGCCTATGAGTTGGTGGTAACCGC GCGGGACGGGGGCTCGCCTTCGCTGTGGGCCACCGCCAGCTTGTCTGTGG AGGTGGCCGACGTGAACGACAATGCTCCGGCGTTCGCGCAGCCCGAGTAC ACGGTGTTCGTGAAGGAGAACAACCCGCCGGGCTGCCACATCTTCACGGT GTCTGCGCGAGACGCGGACGCGCAGGAGAACGCGCTGGTGTCCTACTCGC TTGTGGAGCGGCGGGTGGGCGAGCGCTCGCTGTCGAGCTACATTTCGGTG CACACGGAGAGCGGCAAGGTGTACGCGCTGCAGCCGCTGGACCACGAGGA GCTAGAGCTGCTGCAGTTCCAGGTGAGCGCGCGCGACGCGGGCGTGCCGC CTCTGGGCAGCAACGTGACGCTGCAGGTGTTCGTGCTGGACGAGAATGAC AACGCGCCGGCACTGCTGGAGCCTCGGGTGGGTGGCACTGGTGGCGCAGC GAGCAAGCTGGTGCCGCGGTCTGTGGGCGCGGGCCACGTGGTAGCGAAGG TGCGCGCAGTGGACGCCGACTCGGGCTACAACGCGTGGCTTTCGTATGAG CTGCAGCCAGCTGCAAGCAGCCCTCGCATCCCGTTCCGCGTGGGGCTGTA CACGGGCGAGATCAGCACCACTCGTGTCCTGGACGAAGCGGACTCTCCGC GCCACCGTCTGCTGGTCCTGGTGAAGGATCATGGTGAACCTGCGCTGACC GCCACGGCCACGGTTCTGGTGTCGCTGGTGGAGAGCGGCCAGGCTCCAAA AGCGTCATCGAGGCAGTCGGCTGGCGTTTTGGGTCCGGAAGCGGCGCTGG TGGATGTCAACGTGTACCTGATCATCGCCATCTGCGCGGTATCCAGCCTG CTGGTGCTCACGCTGCTGCTGTACACTGCGCTGCGGTGCTCAGCACTGCC CACTGAGGGCGGGTGCCGGGCGGGCAAGCCCACTCTGGTGTGCTCCAGTG CGGTGGGGAGCTGGTCATACTCGCAACAACAGCCGCAGAGGGTGTGCTCT GGTGAGGGGCCACCGAAGACGGACCTCATGGCCTTCAGCCCCTGCCTTCC TCCTGATCTGGGATCAGTTGATGTAGGCGAAGAGCAAGATTTAAATGTTG ATCATGGCCTCAAAGTAAGTCCATTTAAATTTAGAACTCATAAATTCTAT TTGTGGAAATTGTAGTTACTTTAAAAGTGTTTCAGATTTAGTTTTTCACC GTATTTTATAGTGAAAATTTAAACATTGTTTAGTTTTTAGAAACCTTTTA TAATTAATTGAATTTTCTCAGTGGCATAATACAGTATTAATCATTCTCCA CAAGTTGGGTCTATCTTGAAACTCAAGTTATGGTTGGATGATATCCATTT TTTACTGAATATTTATTTTGGCCTGCCTTACAGCCGTCTTCTCTGAACAA TACTCTAAGGACGTTCAGGGCATTTTGATCTTTGGTGAAAGTATTCCCCC AAAGCGTTTATTCTTTTGTCCTTAGGCACTGAACTCTTAATCTTACTCCA TATGCTGTACTTTGAAATGCATGTTTTAAATATGTTGTCTTTATATTTAC TTTTATTCACTTTAAGATCTCGGTTTATTCATCTTATCTGACTTTTTAGT GTCTGGTAGTCACAAATATCTTTGGTGTTTCACTATTGCCGTTTTAAGCA GTGTAGTGATAAAATACAGAATGATAGTGTTTTTCAAAATTTGATAGTTT TCATATTCTTCCTAATTTTATTATAAACTAGTTAAAAAGTAAAATCAAGA GGGAAGAGATTTGTAATCCTTCTTTTAATTCATTATTTAGACCATTTTAC CATTTGGAGACATGTTTTTTATTCTACATGATTTTTACAGTTGTATTGTC GCCAACTTAACATTTTTTGAGCCTCTATGTTTAGGAAATGATTACTTTAT TCTTGCAAGTATCTTCTAAACTCTAATCATTCAACCCTTTGTTCATGAGT TGGAATATTTTCAATAATATTCCACATTAAAGTGATATTTAATATATGAC TTAGAAAAATGTTTTCATCAGAAAAACTATACATGATAATTTCATTCTTG CAAACCAAACATATAATTTATAAATCCTTATTATACAGAATATTTGGGAT TATCATGGCCCATTAGTTCGTGTAAAAATATTTAGTATTATGGGATAAAT CTTTGAAAAATCCAAGATACTTTATTTTGGTATCTTTCAACATTTTCTTT CTTTTATTTCTTCTTGTCTTTTTACACGTTTGCTTCTTGTGACTGTTGGA CCTGCCTGGATATTAAATACCCATTAGACTTCGTGCATATTGCTTTGGAG AGAATGGTAGAAATTGATGGAAGGGAATGAACGATTTCTGGGACTCTGAA TTCTTACAGTTTGTTATTAGTATTGTTTTAAATCTTTTAATCACTTATGA ACAAATAATGTAATCATTTATGGGCATATTTTAGCCCCCTTGTCCAACTG AAGGTAACCTCAAAGCAGCATTGTTTTGTAGTTTATTTTACAGTTCTCTT AATGCCTGTCCATGTTTAGCATTTTATTTGACTATTTGAACACATTGTGT AAAAGCGAATTGTTTTCATTTTAGTCCTTTAAAAAATATGATTGTTTTCA TTTAAGTCCTTTTAAAAAATATGATTATCTTTATTATCCTGTTTGAATAA TATGTGTTTTCCTTTGTGAAAGTAATATTTCCTATCCTGTCTATGTCTAC CTGGTTCTCAGGTATTACTTTAATTACTGAATTCTCCTAAACATTTAATT GACTTTTACAAAATATCATAAATAGGAGGATTCTTTCCACCACCTAGCAT TGTATTTGGCAATTTATCATTTAAGTCATTTTAGTTCTGTTTTTCTTCAA CTCTCTGATATTTGAATTTGGGGTTGTGCTTTCACAGTGAGAAAGTCTAA ACCTATTTCTTGTACATTAATACTTTTCACTATTCTAATTATGGTGATGC TTTTAGCTATTAAGAATTTCTGGGATTGAAATGTGTCAGAAGTTAGTTAT TAAGTATTGTGGATTCTGAAGCTCTCTAAATCAAGTCCTCCCTTTACCAA TTTTTGTATGTGTAGCCATTGGTAAAGGATTTGTTATTCAGTTCCTTGGC ATTATATGTATGCATGATAAATGTGAATTCTACTTTATAGATTTATTTGT ATCAAGTAAGTTAATAGTTATAAATTATTAATAATAAACTCTGGCAAGTG ATAGGTACATAATAAAATTTAGTTATTACCATTCTTAAGAGAAAAGAAGT TAGTGATTGCAGAAAGGCAACCTAAAATGTCAGAAAGTCGTTATGGCCTT CCATATTAATCTTATTTTTGTGTAAAACTATCTTCTGTAAAGTCATTTTT TAGATTAACCTAGGATGTTTCAATATTTTGAATGTTGTGTGGTGGAATGA AAAAAATCTAAAAGTTATTACGAGTTTAGGAAAGTCAAGTTAACACCACC TATGTGGGAAAACAGTTTTTTGGAAAGGTTAAAGTCCTTCCAAGGAATGT GTAGACTATCTTACTTTGATAGTTGTATGTTTCCCATATTTAAAAGTTGC CTGAGATCCTGCAGAGGCCTGAGTAGGCGTTTGAGTTCTTTGTATGTATG AGATCTTTCCATTAATAGTATTTTTCTTAAAAAGAAGTATACAATAATGT TTTGATGATGATTTAAAGTCAATTTATGTTGTAGTTCTATGAATTAAGTA AACCATTTATGTAGAGTGTTGTAAATAGCCTTTTAAAGTGCTTTCTCTTT TTTCTTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTATCTCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACT GCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTTCCTCAGCCTCCCAA GTAGCTGGGATTACAGGTGCATGCCACCATGCCCTGCTAATTTTTTGTAT TTTTAGTAGAGTCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTC CTGACCTCCTGATCCGCCCACTTCGGCCTCCTAAAGTGCTGGGATTACAG GCATGAGCCACCGCGCCCAGCCTAAAATGCTTTCTTAGCAAGTAGAGAAG ATTGTAATAACCAGTCTTCATTAAACATTAAATAGGACCCTTACAGATCT CTAACAGCATATCATCATGTCAGGAATTATTACTGAGCCCCAGCCCCTGG CTTTAAAATTTGAGGTCAAATAAAGAATATGAGTCACACAATGCAAGGCA AGATAATGTAACAGGTACAAGAGGTAAATCAGAATGACGTTGAAGTTGAA AGACAATCATTTCCTATTTGAATTTTTGAAGAAATACTTGAAGGGGCATG GTGTGTTTCAGTGGTTTTAAAATAAGTAAGTTCCCCCCGGGAGAATATTG AGAATGATAGACATTTCTTGGAAAGAGAAAACATAAGGAAAGTTGAAGAC ACAGAAAGCATCAATATGACAAGTAGAAAAGTCCACTTTGGTTAAAACAC ACAGTCTGCAGAGAATGAAAGCAGGAAAACCAATGTAAGAAGATCTCTTG ATTTCTGAGTAATAAACTAAAGGGCCATGAGTGATTAAGGAATTTGGCCA CTCTTTAGAATTAATTGGGAGCTATTTAACTACCTTGAGCAAAATAAATC ACGACTTTTGAAAGAAGGTTGAACGGGAAGACAAACTCAGAAGCTCCTGC AGTAATCAAGGACAGAAGCAATTGTTAAATGCACCTCTTAGGCTGTTATC AGTAGAAATACGAAATAAAAGATAAATATGCAAAAACATTAATGGCACAA TAAACACTCACGGTTTTGCCTTTAGACTTGAGATACACTAAAATCTAGAT TTAATTAATCGACTTGGACGTTGGAATAAGATAGTAAAACTCACAACAAA ACTTTGTAGAACTTAGTCAGGAAAAGAATCTCAAGCATAGCTTTAAAAAC AGAAATTGCCCCGAGTACTAAGGATGAGCAATAATGAAATTAAAACATAT TGTAATAACATTACACAAACTATATTGGAGACTACAAAGAAGAGATTATT CATAGATTATAAAGCTTGGAAAGAATCAAAACAACACATTTCTGGAAACA GATTGTATAAATGCTACAAAAGAGAAAAATATATTTTCTCCCCACGCAAC ACAAGACCTTAAAGTCAATTCTCGCTTTTCTTGCAATATTTTATACCTTT TCAATTCATAGAATTACTCAAGAAAACTACCTCAGTTGGTTGCTACTTTT TGTTGATTCCTTTTACCAGACATGACTAAGTTTCTTTTTCATCAGTAGAT TTCTGGGCTCCTATATTCACTAGAGATTGCAACTCCTGGATTTCTCTTAC ACTAGAATCCTATTTCGAGCCATATGGGAGATTCTGAATTCCAGAACAAA AGAATTTTGTAATTTAAAATTCGTGATTGCTCAATGGAATCATTTTAATT GTTACTTCATTTCTGTCGTTATTTAAAACTTAAGTGGAGAGTTTTCTCAG GGATAAGAAAACCACAATCAAGGTCATACAAAACTTTTAGAGGCAGTCAG TCTGCTAAGAAGGCTCCAGCAAGAGAAACGGGATCTTCTGTTTCAACAAT CATTACTTAAGAAAAAATTAAGAAAATGAAATAAGTTTTGCAGAATAACT GTGAAATTTTTATTCATGAAATATGTACTTACACTTTGGGCCACGTGATG TCACTCTTTGCCGCGATGTTCTCTCTGAATCCAGACAAATACAGCCCTTT TCCCATGGGAAAGAGGCTCAATTCTTTTTCACTCTCTCTGTGCTGAACGA TGGCGAACACAGCAGAATGGGACTGACGAAATCAGATGATTTCTTCTAAT TTGGAGGCAATTTTCACTAATTAGAAGAAGACTGAGTATTTGAAATGTTA TACTCAAGTCGAGGAGATCCAGAGGGTCAGCCTCTACTGCTCTCGCTTCT GATCCTCGCAATGTGGGTGGTGGGGAGCGGCCAGCTCCACTACTCCGTCC CGGAGGAAGCCGAACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTG GGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCAGTTGGATTCCAA AGGCCGCGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTG TGAATTCTCGGATCGACCGCGAGGAGCTGTGCGGGCGGAGCGCGGAGTGC AGCATCCACCTGGAGGTGATCGTAGACAGGCCGCTGCAGGTTTTCCATGT GGACGTGGAGGTGAAGGACATTAACGACAACCCTCCAGTGTTCCCAGCGA CACAAAAGAATCTGTTCATCGCGGAATCCAGGCCGCTTGACTCTCGGTTT CCACTAGAGGGCGCGTCCGATGCAGATATCGGGGAGAACGCCCTGCTCAC TTACAGACTGAGCCCCAATGAGTATTTCTTCCTGGACGTGCCAACCAGCA ACCAGCAGGTAAAACCTCTTGGACTTGTATTACGGAAACTTTTAGACAGA GAAGAAACTCCGGAGCTTCATTTATTGCTCACGGCCACCGATGGAGGCAA ACCCGAGCTGACTGGCACCGTTCAATTACTCATCACGGTACTGGACAACA ATGACAATGCCCCAGTGTTCGACAGAACCCTGTATACGGTGAAATTACCA GAAAACGTTTCTATCGGAACGCTGGTGATTCACCCCAATGCCTCAGATTT AGACGAAGGCTTGAATGGGGATATTATTTACTCCTTCTCCAGTGATGTTT CTCCAGATATAAAATCCAAGTTCCACATGGACCCCTTAAGTGGGGCAATC ACAGTGATAGGACATATGGATTTTGAAGAAAGTAGAGCACACAAGATCCC AGTCGAGGCTGTCGATAAAGGCTTCCCACCCCTGGCTGGTCATTGTACAC TTCTTGTGGAAGTTGTGGATGTAAATGACAATGCTCCACAGTTGACTATC AAAACGCTCTCGGTTCCTGTAAAAGAGGACGCACAACTGGGGACAGTTAT TGCCCTGATTAGTGTGATCGACCTAGACGCAGATGCCAACGGGCAGGTTA CCTGCTCCCTGACGCCCCACGTCCCCTTCAAGCTGGTGTCCACCTACAAG AATTACTACTCGTTGGTGCTGGACAGAGCTCTGGACCGCGAGAGTGTGTC CGCCTACGAGCTGGTGGTTACCGCGCGGGACGGGGGCTCGCCTTCACTGT GGGCCACGGCCAGGGTGTCTGTGGAGGTGGCCGACGTGAACGACAACGCA CCAGCGTTCGCGCAGTCCGAGTACACGGTGTTCGTGAAGGAGAACAACCC GCCGGGCTGCCACATCTTCACGGTGTCTGCGCGGGACGCTGACGCGCAGG AGAACGCCCTGGTGTCCTACTCGCTGGTGGAGCGGCGGTTGGGCGAGCGC TCGCTGTCGAGCTACGTGTCAGTGCACGCGGAGAGCGGCAAGGTGTACGC GCTGCAGCCGTTGGACCACGAGGAGCTGGAGCTGCTACAGTTCCAGGTGA GCGCGCGCGACGCGGGCGTGCCGCCTCTGGGCAGCAACGTGACGCTGCAG GTGTTCGTGCTGGACGAGAACGACAATGCGCCGGCGCTGCTGACACCTCG GATGAGGGGCACTGACGGCGCAGTGAGCGAGATGGTGCTGCGGTCGGTGG GCGCCGGCGTAGTGGTGGGGAAGGTGCGCGCAGTGGACGCCGACTCGGGC TACAACGCGTGGCTTTCATACGAGCTGCAGCCAGAAACGGCCAGCGCGAG CATCCCGTTCCGCGTGGGGCTGTACACGGGCGAGATCAGCACAACGCGTG CCCTGGACGAAACGGACGCACCGCGCCAGCGCCTACTGGTGCTGGTGAAA GACCACGGGGAGCCAGCGCTGACGGCCACGGCCACTGTGCTGGTGTCGCT GGTGGAGAGCGGCCAGGCGCCAAAGTCATCGTCGCGGGCGTCAGTGGGTG CCACGGGCCCCGAGGTGACGCTGGTGGATGTCAACGTGTACCTGATCATC GCCATCTGCGCGGTGTCTAGCCTGTTGGTTCTCACGCTGCTGCTGTACAC TGTGCTGCGGTGCTCGGCGATGCCCACCGAGGGCGAGTGCGCGCCTGGCA AGCCGACGCTGGTGTGTTCTAGCGCGGTGGGGAGTTGGTCGTACTCGCAG CAGAGGAGGCAGAGGGTGTGCTCTGGCGAGGGTAAGCAGAAGACCGACCT CATGGCCTTCAGCCCGGGCCTTTCTCCTTGTGCTGGATCTACAGAGCGAA CGGGAGAACCCTCTGCTTCCTCAGATTCAACTGGGAAGGTGGGTTTTTCT AGCATTTTATTTATTTATATAATTTTTTTTCTTGAAAGATATTATCGATT ACTCCCAGGGGCCGTTCAAATAGTTTTATTCATTTTTCTAGAAATCCAGC AGATTTTTTTTCTGATAAAGTAAACCCCTTAACATTGGAGCCGACTTTGT CTTGACTTCTAGTGAGAATTATAAACTGTATATTAAATAGATATTTTTTG GGTGCTGAATCAATTTTATTTAAATTTGTGATTAAAGTGACATTGAATTT CTGATGCTATGCTGCCATAACACTTGAAAACCAATTTAGTTGTTAGTCAT TCATTAAACATTAACATCACTATCATTTATTTATTGCTAAATGATGCATA GTATTTTAGTCTACTTGTATTGTTTATAAGAAACCCAAGCAAAAATATAT AGCAATTGTTACCTTGTTAAGTTTGTAGTTCTCTACATTTCTCTGGATGG AGACTGTGAACATCTGATTGTTCAGCAACCTTCAGTATCTATTATTTTAA TAAGAAAGAAACTTCCCCTAAACTTTAGAAAACAGTTGCTCCACTTTAGG AATCAAATTATGTCAATAAATGTTATAAACACAGCCTTCATTTCAACTTA TATAAAATATGTTTTAAAATGCCTGACAATGTAGATAATTCAAGAAATGT TGACTGAAATTTTGTCTACACTTAGAACATTTTTTGAAATTCAGTTTACA GAAATTGGAGAAAATGCTTTTTAAACAAGTGTTTCCTTTCTTCAAGAAGA CATTCTCCTTTTAATTGAAATTTTCTCCATTCAGTGATAAAATGATCAGC CATGTGAAGATTCGAAACTTCGAGTTCTTTTGAAATTCAGAGTCTGTAAC TTAAAACATTACCCTTATGAATTTAGATGAGAATTCACTTGTTCTGTCAG TAATCCATAAGACAGAAATCTGTTTTTTTAAAAATATCTTTTTCTCCTCT CAGCTCATACATAACACAAGGCAGAAATCTGGATATGAGATTTGCCTCTT TAATGTCACTACATGTTATGTTTCCTGAATTGTAGTATGTGACTTTCAAA ATGGTGGTTTTCCACACTCTACCTTTAGTGCAAGCTATTTGTTTGTTTTC TAATTTATAGTTTTAAAAACTTCGCTTATTGAGTTTTTGTTATGTGGTTT ATATTTTTCTTTCTCTTTCAGCTATTTTATTTAATATTGTGTCAGATATT TTACAAGGTATGACCTAATTAAAAACTCAGTAGAGAAAGATCAGAATGGC CTTGAGAATAGAGCCACAAAAATAACTATGAAAATGCCAGTAACGTTTAT TTAAAACAAAATATTTTAATTTTTAAATTTTCCCTTAAAACACACTTTTG GAATATGCTACAATATTACATGTTTTTTGTCTTTTTATTTTTCTGAGACG GAGTCGTTTTCTGCCACCCAGGCTGGAGTACAGTGGCATGATCTTGGCTC ACTGCAACGTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCC TGAGTAGCTGGGATTATAGGCACATGCCACCGCGCCCAGCTAATTTTTGT ATTTTTAGTAGAGATGGGGTTTCATCATGTTGGCCAGGTTGGTCTCGAAC TCCTGACCTTGTGATGCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTAA AGCTGTGAGCCACTGTGCCAAGGCTTTTTTATTTTTTTTTTTTGTCATTT TCTTTCAAAACTTGAGTGGTCTCTGAGCTCCTGTCATTAAACCTATCTAT ATCTGTCTATCAGCACAACTCACCTTGAATATAGTCTTATACTTTCAAGT ATCTTTGTCTTTGCACGTTTTTCAAGTTTCATGTGCCATTTAAACTTGGA CCCAGGTATCTGATTATTTGATGTGAATAGAGGGATGCTACAGATGTCAT TTGTCTCCCGCCCTAAGTCCTCCAGTCTCCTTAGAGCTAGTACTTACTAA GCATTTACTATGTCATCAATAATCATAAAACGTATTTTTTTTTTTGAGTC AGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTTGGCT CACTCCAAGCTCCCCCTCCCGTGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGCCTAATTTTTT TGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGTCAGGATGGTCTCG ATCTCCTGACCTCATGATCCTCCCGCCTCAGCCTCCCAAAATGCTGGGAT TACAGGCGTGAGCCACCGCGCCTGGCCTAAAATGTGTTCTTTATTATTGA CGGCTGTATTGATGGGATTGGTAATTTAGTCCTTCATATTAATCTCTATT CTCTCTCAGAGTACAAGCTCTCATCATATGCAAATTCTCAGAAGGGCTGT GAACACCTTAGTAATAAATTTATCTTTTGAGGTCATTAGCAAACATGAAC TCACAGGGATCCAGAGATGGTAAAATTCAAAACAGCCTGTCAAGTTCAAA ACAGAGAGGTGAAAGCAGAAGAGACACTTTCCTATTTTGCCTAATAGGTC TCCTTATATGCATCTGTAGTTAACATTCCTCAATTCAAGTTAGAATCATG AAACAATAATGAAGCTCCTCCTATGTCTCTTTTCAAGTTGTAATTACTAT ATAGGAAAAACTAAGTTGTCACCCAATATCTTAGACACTTTGAGAGCAAA GGGGGTGCTGTAAATAAGTATACAAGATCACAGACCTAAATTGAGCCTGT TCCAGACAAATTGGGGCCTATGGTCAACCTATCCTTAGACCTGCTAACGC ATTAGCATTAGCAGCACCTAAGTCCTCATTGAATGTTCTGGTTCAAGGCT CCACCTCAGAAATTCTGAAATGGGTAGTAAGAGCAAATTTTCATTTTAAA GCACACCTGAGATGATTCTCATACAACCGAAATTTTAGATCCATAGCCCT ATTTGATACTTGACAGTGCAAGTTTCTGTAATTTAAAAAGATGTGGTGGC CTGACACCTGCAATCCCAACATTTTGGGAGGCCAAGGTGGGAGGGTCCCT TCCTTGAGCCCAGCAGTTTGAGACCAATGTAGTGAGACTCATCTCTGCCA AAAAAAAAAAATTAGCCGGGCATGGTGGCACACATCTCTAGTCCCAATTA CTCAGGAGGCTGAGGCGAGAGAATCGCTTGAGCCTGGGACATTGAGGCTG CAGTGAACTGTGATGGCACAACTGCATTTCAGCCCGGGTGACAGCAAGAT TCTGTCTCAAAAAAAAAAAAAAAAAGAGTAGTTTAACTACTCCCTACTTT TTATTCAATATTGGACATCTACATTGGGATATTTATGTTATCACTTGGTA TAAAATGTACATTAGTAGAAATTGAGTTTAGTTTTTATTATTTTGTGCGT GGAGATGATTGATCAATGGCAAACTTATTTTACGCTCCAGATAGCTAAAA CAAACGTTGATATTTTGATACATAACTCATTACATTTTAATTCAGGGTTT ATAAAAAAGTAATCTCTAAAATCAGAATTTGAATGAATTTTGATGCAAGA GGCATTCCAGAGGAGTAGAGAAGTATAGAAACAGAATTTAGTAGGACACA TAAACTGATGGATTAAGTGACACCCATTTCTGTCAGTTTTCTTATTCATA AATATTGTTGCTCTGTCATTCAGATTTTAATAAAAAAAGTTTAAAGTAAT TGACACATTTAAAAATATTCTTTAGAAAAGTCAAAACATCATTAAATAAA ATAAATTAACCCTTGCATAAGACCAATATGTCTGTTGTTAAGTTTTCCTT TCTTGGAAAGACAGAAAACTCAAGTTTTTTTCAGCAGCACAGATATATTA CATTTTCATTCCTGAATATTTGATTTCAAGAACTTTGAGAGAGAAAAAAA TATTTTTACTGCAAGTGGTGATGAAAAACTTCACTGACATTGATAAAATT ACTAGATATATTTCAGAACTGTGTCTTTTGGGCATTTGAAAAGCGTAAAT ATAACAGGGTTGAAAGCATTTGCCTCTGAAAGCAGAAATAATAAATTTCT TAATTACTTTATTCAGAATTATAATTAAGATTCTTTTTGCCCGTGTAAGA TATTATAAAATGAAACTTCTTGTATAAAGGATTTTTCTGTAATAGTACTT TTCTGTTTTCTTAAATACAGAAACCACCACTCTCAGCCTGTGCAGTAGCA ATAATTAAGGCATTCTATAGGTAATAATTTTGCCTGATGAGCCAAATTTG GTATTGAGCCTCATGAAAACAAATGTGGCCAAATTGAGGCCTGAGAATAG TTTCCATTTATGAAGCACTCATTCTCCTTAAGGTACTATTGCAAGCACTT ACTATATTATAATTCACTCAACCACCGTATTACTATTAGGCCAAAGTTAT AAAATTGGAACATGAGGGAGGGAGAGGTTAAACGATTTTCCCAAGTCATG TGGCTAGTGAGTAGGATAATAGGAATCTAAATGGAGAAATGTCTGATGTT GAAGCTAATGATCTCTAAATTCTAGTGATGACTAGATCTTCGGAGTTATA AACACCTCACAGATAGTTGATGCTTGACATTAGTGTCTAAATAAACCTTA TTAAATCTCAAAATAATGAGAAAGAGAAGTAAGTTAAGTGTCAGAACTTA AATGGAACTAAAGTTGTCATTTAATAAAATATTAGTATACTCAGTAGTAT GCAAATATTAAGGGCATTTTGAAATTCGGCTATTGATAATCATGTGGTTA GGGAAGAAATCACTACTCTGAGAGTCTACATTTAAGAAAACATTGCACGT GGGATCAACATTTATTGTTATTAACTATAAAGAGACGTAATGTGAGGCTT TGAAAGTCCATAGACATAAAAATACGTAAAAAAAGAATTAACATATGAAT GAAAGAAAAGTTGTGAACTCATGGAATCGTACTTACACCTAAAGCCACCG GATGTCGCTGTCGTCCACAAAATAGCTTTTTAGAACAAAGGCATCAGCCA GTTTCTCAAGGACTAGGAAGTAGCGTCATTCTGAGATCTCAGCCATTTCG ATAAAAAATAGATATAAGAAATAGGACAGAAAATGTCAGATCGTATGTGC GTTCTAGACCGCTGATTCGTCGATTTGTAAAACAAGAGAAGGATAAGATG GTTTCCAGATGTAGCTGCCTGGGGGTCCAGTGTCTGCTGCTCTCGCTTCT TCTCCTCGCAGCCTGGGAGGTGGGGAGCGGCCAGCTCCACTACTCAGTCT ACGAGGAGGCCAGACACGGCACCTTCGTGGGCCGCATCGCGCAGGACCTG GGGCTGGAGCTGGCGGAGCTGGTGCAGCGCCTGTTCCGGGTGGCGTCCAA AAGACACGGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTG TGAATTCTCGGATTGACCGCGAGGAGCTGTGCGGGCGGAGCGTGGAGTGC AGCATCCACCTGGAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCATGT GGACGTGGAAGTGAAGGACATTAACGACAACCCGCCCAGGTTCTCCGTAA CAGAACAAAAGCTCTCAATACCTGAATCCAGACTGCTTGACTCTCGATTT CCACTAGAAGGCGCATCTGATGCGGATGTTGGAGAGAACGCATTGCTTAC TTACAAACTCAGTCCAAATGAGTATTTTGTTCTTGATATTATAAACAAAA AAGACAAAGACAAATTCCCAGTGCTTGTTCTGCGGAAGCTGCTGGATCGT GAAGAAAATCCTCAGCTAAAGTTGTTGTTGACAGCAACTGATGGAGGCAA ACCTGAATTTACCGGATCTGTTTCTCTGCTGATCCTGGTGTTAGATGCCA ATGATAACGCCCCTATCTTTGACAGACCGGTTTATGAAGTTAAGATGTAT GAAAATCAAGTGAACCAAACATTAGTAATACGGCTCAACGCTTCTGATTC GGATGAAGGAATAAACAAGGAAATGATGTATTCATTTAGCTCTTTGGTCC CACCCACGATAAGAAGGAAATTTTGGATAAACGAAAGGACGGGAGAAATA AAAGTAAATGATGCTATTGACTTTGAGGACAGTAACACTTATGAAATTCA TGTAGATGTTACAGATAAGGGAAACCCACCTATGGTTGGTCACTGCACGG TCCTAGTGGAACTACTGGATGAAAATGATAATTCACCTGAGGTGATTGTC ACTTCTCTGTCTCTCCCAGTGAAAGAAGATGCTCAAGTGGGCACCGTCAT TGCCCTAATCAGCGTTTCTGACCATGATTCAGGAGCCAACGGACAGGTCA CCTGCTCTCTGACGCCTCACGTTCCGTTCAAGCTGGTGTCCACCTACAAG AATTACTACTCATTGGTGCTGGACAGCGCTCTGGACCGCGAGAGGGTGTC GGCCTATGAGCTGGTGGTGACCGCGCGGGACGGGGGCTCGCCTCCGCTGT GGGCCACGGCCAGCGTGTCTGTGGAGGTGGCCGACGTGAACGACAACGCG CCTGCGTTCGCGCAGTCCGAGTACACGGTGTTCGTGAAGGAGAACAACCC GCCAGGCTGCCACATCTTCACGGTGTCTGCGTGGGACGCGGACGCGCAGG AGAACGCCCTGGTGTCCTACTCTCTGGTGGAGCGGCGGTTGGGCGAGCGC TCGCTGTCGAGCTACGTGTCGGTGCACGCGGAGAGCGGCAAGGTGTACGC GCTGCAGCCGCTGGACCACGAGGAGCTGGAGCTGCTACAGTTCCAGGTGA GCGCGCGCGATGGGGGCGTGCCGCCTCTGGGCAGCAACTTGACGCTGCAG GTGTTCGTGCTGGACGAGAACGACAACGCTCCCGCGCTGCTGGCGTCTCC CGCTGGCAGCGCGGGCGGTGCAGTCAGTGAGCTGGTGCTGCGGTCGGTGG TTGCGGGTCACGTGGTGGCTAAGGTGCGCGCAGTGGACGCTGACTCTGGA TACAACGCGTGGCTGTCGTATGAATTGCAGTCGGCGGCGGTTGGTGCACG CATCCCGTTTCGCGTGGGGCTGTACACGGGCGAGATCAGTACGACGCGCG CTCTGGATGAGACTGACTCGCCACGCCAGCGCCTACTGGTGCTGGTGAAG GACCATGGCGAGCCGTCGCTGACGGCCACGGCCACTGTGCTTGTGTCGCT TGTGGAGGGCAGCCAGGCACCCAAGGCCTCGTCGCGGGCTTCAGTGGGCG TGGCGCCCGAGGTGGCCCTGGTGGATGTCAACGTGTACCTGATCATCGCC ATCTGCGCGGTGTCCAGCTTGCTGGTGCTCACGCTGCTGCTGTACACTGC ACTGAGGTGCTCGGCGGCGCCCACCGAGGGCGCATGTGGGCCGGTGAAGC CCACGCTGGTGTGCTCTAGCGCGGTGGGGAGCTGGTCTTACTCGCAGCAG AGGCGGCAGAGGGTGTGTTCTGGGGAGGGCCTGCCCAAGGCGGACCTCAT GGCCTTCAGCCCCAGCCTTCCACCATGCCCAATGGTAGATGTGGACGGGG AAGATCAGTCTATTGGAGGGGACCACTCTAGGAAGGTGGGTTATTACGTT TTCATTTTCCTTTTGTGCTTTATGAATAATATTTTCTCTTACCGCATTTT CTCAAATATGTATCAGAATATTTCATTTTTGTCTACATTCCATTTATGCT TGAATATTTCTAGTGATACCTTTGTAATATAATTTATTCCAGGAGTTTTA AAATTTTTTTATCCTACCCAGTGTGTCAGCCTTTGATTGGTACTTAAATT TTTTTAAATAACAATTTATTCTGAATACACTAATATTTTCCAATACAAAT ATGTGATATAGGTTGCAGTTCTGACGATTTACTTTCATAATCACTTTTCG TTACAAATATTTGTGAGATTAGTACTTCATGTTATTTCATTTCCAATCTA AATTTTGATTTGATTGTATTTGCATTACCAAAAAATTCCACTGATCTATA TCTCTTCAGTGAAAATGTGTTTTCCTCCATGTGTAGAATATGTGTAGCGT ACCACAGCTTATACTGCCATAGTAGATTTCAATGTTCAGTGATTACAGCT TTTTCTCAATAGTGCAGTAAGTAGGTGGGCAGTTCATTGGTAAAAATTTC TTAATCTTAGCAATTAAGTTAAATGCTTTGAACTTTAAAAACGTTTTCCA TTTTTATTTTAGTTGTAGTGGTACCTGTGTCAGTGTGTATTATTCACTTA GCAGAAGAAAATGTATGTTTCTTTTATTTACATAATTTTATCCAGTAGCT CTTCATTATCTGCTCCTTTATCAGCATTAGGCATTGCTTATGATATTCAG GTATTAGCTCTTTCACTTTAAGGAAGGAGTCATGCTTATGTTTAATAATG AAGAGAATTTGAACACTTTTTACTTTTGAGACTGAAAATACTTTAGTATG AATTAATATTAAAAGTTTGAGGAGAAAATAAAATTAATGTTT	A A	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01106.hp1 HG01346.hp2 HG01978.hp1 others(12): Show HG01106.hp1 HG01346.hp2 HG01978.hp1 HG02027.hp1 HG02293.hp2 HG02738.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03139.hp2 HG03540.hp1 HG03834.hp1 NA19005.hp2 NA19043.hp1 NA19065.hp2	a0003 a0006 a0012 a0003 a0006 a0012	a0003c0003 a0006c0006 a0012c0010 a0003c0003 a0006c0006 a0012c0010	a0003c0003t0001 a0006c0006t0001 a0012c0010t0001 a0003c0003t0001 a0006c0006t0001 a0012c0010t0001	a0003c0003t0001g0002 a0003c0003t0001g0006 a0003c0003t0001g0007 others(12): Show a0003c0003t0001g0002 a0003c0003t0001g0006 a0003c0003t0001g0007 a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0014 a0003c0003t0001g0015 a0006c0006t0001g0003 a0006c0006t0001g0004 a0006c0006t0001g0005 a0012c0010t0001g0016	15	256	0.0586	-16791	c.123 others(15): Show c.1232_2394+15628del	p.Ser others(5): Show p.Ser411fs	PCDHA8	ENSG00000204962.6	transcript	ENST00000531613.2	protein_coding	1/4	1367/5398	1232/2853	411/950		chr5	TogoVar
PCDHGB6_chr5_141403021_141517975	141408395	AAGCTGCG others(9650): Show AAGCTGCGAGTGAGCGCGGAGAAGCTGCACTTCAGCGTAGACGCGGAGAG CGGGGACTTACTTGTGAAGAACCGAATAGACCGTGAGCAAATATGCAAAG AGAGAAGAAGATGTGAGTTGCAATTGGAAGCTGTGGTGGAAAATCCTTTA AATATTTTTCATGTCATTGTGGTGATTGAGGATGTTAATGACCACGCCCC TCAATTTGATAAAAAGGAAATACATTTAGAAATTTTCGAATCTGCATCCG CTGGTACACGACTATCGCTTGACCCTGCCACGGATCCTGATATAAACATA AACTCAATTAAAGATTATAAGATAAACTCTAATCCTTATTTTTCATTAAT GGTTAGAGTTAATTCCGATGGTGGCAAATACCCAGAGTTATCTCTGGAGA AACTCCTAGACCGGGAAGAACAGAGATCTCATAGCTTGATATTGACTGCC TTGGACGGAGGGGACCCACCAAGAAGTGCCACCGCTCACATAGAAATTTC TGTCAAGGATACCAATGATAACCCCCCGGTTTTCAGCAGAGACGAATATA GAATTAGTCTTAGTGAAAATCTGCCCCCTGGGTCCCCTGTGTTGCAAGTG ACAGCCACTGACCAGGATGAGGGGGTCAATGCTGAGATAAACTACTACTT CCGAAGCACTGCCCAGAGCACAAAACATATGTTCTCATTGGATGAGAAAA CAGGTATGATTAAGAATAACCAGTCATTTGATTTTGAAGATGTAGAAAGG TACACCATGGAAGTGGAAGCGAAGGACGGAGGTGGTCTCTCTACCCAGTG TAAAGTAATCATAGAAATCCTTGATGAAAACGACAACAGCCCAGAAATAA TCATCACTTCTCTCTCTGATCAGATTTTGGAGAATTCACCTCCAGGAATG GTTGTTGCCCTCTTCAAAACACGGGATCTGGATTTCGGAGGAAATGGAGA AGTCAGGTGTAATATAGAAACAGACATTCCATTCAAGATTTATTCTTCTT CCAATAACTACTACAAACTGGTGACAGATGGAGCCCTGGACCGAGAGCAG ACACCAGAATACAATGTCACCATCGTAGCCACTGACAGGGGCAAGCCGCC TCTTTCTTCCAGTAGAAGCATCACCTTGTATGTCGCTGACATCAACGACA ACGCCCCAGTTTTCGACCAGACGTCCTACGTGGTCCACGTGGCCGAGAAC AACCCGCCAGGAGCCTCCATTGCGCAAGTGAGCGCCTCTGACCCGGATTT GGGGCTCAATGGCCACATCTCCTACTCTATAGTGGCGAGTGACCTAGAGC CCCTGGCGGTGTCGTCATACGTGTCAGTGAGCGCGCAGAGCGGGGTGGTG TTCGCGCAGCGCGCCTTTGATCACGAGCAGCTGCGCGCCTTCGCGCTCAC GCTGCAGGCCCGCGACCACGGCTCGCCCACGCTCAGCGCCAACGTGAGCC TGCGCGTGTTGGTGGGAGACCGCAATGACAACGCACCGCGGGTGCTGTAC CCAGCTCTGGGTCCTGACGGCTCCGCGTTCTTCGATATGGTACCTCGCTC TGCAGAGCCCGGCTACCTAGTGACTAAGGTGGTAGCGGTGGACGCCGACT CGGGACACAACGCCTGGCTGTCCTACCACGTGCTGCAGGCCAGTGAGCCC GGACTCTTCAGCCTGGGGCTGCGCACTGGGGAGGTGCGCACGGCTCGAGC CTTAGGCGACAGGGACGCAGCCCGCCAGCGCCTGCTGGTCGCTGTGCGTG ACGGTGGACAGCCGCCACTCTCTGCCACCGCCACGCTTCATCTGGTCTTC GCAGACAACTTGCAAGAGATACTGCCAGACCTCAGCGACCGCCCTGTACT CTCTGACCCCCAGGCTGAACTGCAGTTTTACCTGGTGGTGGCCTTGGCCT TAATCTCAGTGCTCTTCCTCCTCGCCGTGATTCTGGCCATTGCCTTGCGC CTGCGACGCTCTCTCAGCCCTGCTACTTGGGACTGCTTCCATCCTGGTCT CTGTGTCAAGTCTGGACCTGTAGTTCCCCCCAACTACAGTGAGGGGACTT TGCCTTATTCTTATAATCTGTGCATTGCACATACGGGTACAAAAGAGTTT AATTTCCTAAAATGCAGTGTGCCCCTACATTCCAATGAAGACATGGTTTG CAGTGTTTCTCCTGGAGCCTTAATTCCACCTCATGGTGGGGAGGATTTGA CTTCACATCCTGAGACTCTGACTTCGGTGAGTTTCTCTTTTTTGTGTGTG ATTTATCTAATAGTCTACTAGTTTCTCATATTTTAGGCATACTACTTTAT TTTCATATCTAGAATCATATGTTTAAAATCCATAGCTTTTTACAATATTT TCTCAATGTTTTTTCAATTATAGTTTTCACTATGTATTTGGTTCATAAGT TGCTCTATCTTTTTGTAAAATAATGTCACCAGACTGAAGATATTTTGTCT TTGTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCACTGTTGC CTAGGCTGGAGTGCAGTGGCGTGATCTCTGCTCACTGCAACCTCCGCCTT CTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTAC TGGTGCCCCTCACCACAGCTAAATTTTTTGTATTTTTAGTAGACATGGGG TTTCACTATGTCGACCAGGCTGTTCAGAAACTCCTGTCCTCGTGATCCTC CCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACAATATT TTGTCAAGTTCTGACTATCGAACAGAAGCAGTGGTCTTGGCATCTAAGAA AACAAACAAGTAACCTATCTATTCAAATTTGCGAAGACTTAGTGAATTTA CGATATCTTATTTATATATTTTTAAAGCCTAAAAATATTCAGAAGACAGG CCCAGTGGCTCACACCTATAATCACAGCACTTTGATAGGCTGAATCGGAA AGTATCACTTGAGCCCAAGAATTGAGACCAGCCTGGGCAATATAGGGAGA CCCCCCATCTCTACTAAAACAACAACAACAAAAAAAAACATTAGCAGAGT GTGGTAGCATTCCCCTGTGGTCCCAGCTACTTGGGAGGCTGAGCTGGGTG GATTGCTTGGTCCTGGGAGGTCAAGGTTGCAGTGAGCCCTGATCTTGCCA CTGCACTCCAGCCTGGGCGACAGAGTGCGACCCTGTCTCTAAAATAAATA AATAAATATGCAGGCAGGGCCAAGTGTGCTGTAATCCCAGCACTTTGGGA GGTGGAGGTGGAGAATCTCTTGAGCGCAGGAATTTGAGACCAGCCTGGGC AACACAGGGAGACTCCATCGCTACAGAACATTTAAAAATTAGCAGGGTGT GGTGGCACATGCCTGTGGTCTCAGCTACTCTGGTGGCTGTGGTGGGAGAA TCGCTTGAGCCCAGGAAGTCTAGGCTGCAGTGAGCTGTCTAGGTGACAGA GTGAGACCCTGTCTCAAAAAAAAAAGACATTTCTAAGAAATAAATGAAAT ACTATTGCCTTTGCACTCAGTCTCTGTCTCTGATTCTCTGATAGAAGATT TTTGAAGAAAAAAGATAAAATCTTTGAAGAGTTCTATACTTGGAAGGCAT AGTGACATAAACACTTCTGAACATCCTGTTCTCTGTGTGAAAGAAGTGAA CTTCTATACCCTTTGCATTTGAGGGAACAATTGCTACTGGGTTGATGGGC ACACACAGTTGAAGATATGTGAACCACTGGACTTTGGCCTCTGATACAAA CTGCCTAAGAGAAGAGATTATTTATACTGGTATTAATGCTCTGATGAAAA CAGGTCATTTGACATAAACACTTACTTGTTAAAAACCTATATCACTACAT CTAACTTTGTTTTCTAAAACTTTTAGTACTTCAAATTCTACGTATTTCTT TTCTCATTACAATGCAAACAGTTTAATTTGCAACTGTAATATATGTTCAT TTTAGTTTGTGATTACCTGCTTAATCATTTAAATAGGTCCATTTAACTTG TATCCCTGTAAGATAAAGTATGTTTTACACAAAAAGGTTAATTAAGGCTC AGTAAAACTATTCTAGAAGAGTACTTTAAAAACCTCTTACACAATCCTAA GCTAAATAAGTTTAATGAATTAAGTAGTTACAATTATAAAGCTTCAGAGT GAATTATCTCATGAGTTTATTTAATATAATCTTTGTATGAATGTATACTA AATAAAATTGGCCTATTCAAATCACAATTTTAAATTATAAGACTTTTCTG AATTTACCTAGACACTAATATGACCTAAAATAAGTATTATTTACCTTTTA TTAAAGTGTGTACATTTCTGTTGGGAAAACGTGTTGCAAATATATATTTA ACCAAACATTATCTTGAAATATTTACAATATTTTCACTCCACTTTATCAC ACCTCCCCTAAGAAACCTACATATAGTAAATTATTTAAAGATAGGAGTGG AGAAACCAAAGAATCTATGTAAAATATAATAATCCAACAGAATAGTTTAC TTTCCATTGCATGTATCACTTGGGTGCAGTAACTTCTTAGGACTCTGAGC GCCGCTGTTCACCTACTAGGAGAGAAAACGCAGCCAGAGCTCAATCCGGA TTCTCAGGGCTTCAACTACACAAGCCCCACAAACCGGCTGCTGGGCTGCA GGGAAGCTCACTCCAGAATTTAAAGTGCCCAGGCTACAGAGACACCCTGA AGCCACAGAAAGACAAAGGAACCGGTTGAAACACACAACGTGTCCAGTGA GGACTTTGCAGAATTCTGTAACCAGACTACAATGGCCGCTCAAAGGAATC GCTCAAAGGAATCAAAGGATTGCAGCGGGCTGGTCCTGCTCTGCCTTTTC TTCGGGATTCCATGGGAGGCTGGAGCCCGGCAGATCTCCTACTCAATTCC TGAGGAATTAGAGAAAGGCTCTTTCGTGGGCAACATCTCCAAGGACTTGG GTCTGGCGCCCCGGGAGCTGGCGGAGCGCGGAGTCCGCATAGTCTCCAGA GGTAGGACGCAGCTTTTCTCTCTGAACCCGCGCAGCGGCAGCTTGATCAC CGCGGGCAGGATAGACCGGGAGGAGCTCTGCGCTCAGAGCGCGCGGTGCG TGGTGAGTTTTAATATCCTTGTGGAAGACAGGGTGAAACTTTTTGGGATA GAAATAGAAGTAACTGATATCAATGACAATGCTCCAAAATTCCAAGCAGA AAATCTAGACGTAAAAATTAATGAAAATGTCGCTGCGGGAATGCGTTTTC CTCTCCCGGAAGCTATTGATCCGGATGTGGGCGTGAACTCCCTGCAGAGC TATCAGCTCAGCCCCAATAAGCACTTCTCCCTAAGAGTTCAGAGCCGTGC CAATGGCGTCAAGTACCCGGAGCTGGTACTGGAGCACTCCCTAGATCGCG AGGAAGAGGCCATTCACCACCTGGTCCTCACCGCCTCCGACGGGGGTGAC CCTCTCCGATCTGGCACTGTCCTTGTCAGTGTGACTGTCTTCGATGCAAA TGACAACGCGCCGGTCTTCACCTTGCCAGAATACCGAGTGAGTGTTCCTG AGAATTTGCCTGTGGGCACTCAGCTGCTGACAGTCACAGCCACCGACAGG GACGAAGGTGCCAATGGAGAAGTGACATATTCATTCCGAAAATTACCTGA CACGCAATTGTTGAAGTTCCAACTAAACAAATATACTGGAGAAATAAAAA TATCAGAAAATCTAGATTATGAAGAAACCGGTTTCTATGAAATAGAAATA CAAGCAGAAGATGGAGGAGCATATCTTGCAACTGCAAAAGTGTTGATTAC AGTAGAAGATGTAAATGACAACAGTCCAGAGCTGACCATCACGTCTCTAT TTAGTCCAGTGACTGAAGATTCACCTCTGGGAACAGTCGTAGCCCTTTTA AATGTGCATGATTTAGACTCTGAGCAGAATGGACAGGTAACCTGTTCCAT TTTGGCGTATCTACCATTTAAATTAGAAAAGTCCATTGACAGTTATTACA GATTGGTGATACACAGAGCCCTTGACAGGGAACAGGTATCCTCTTACAAT ATCACAGTGACAGCCACAGATGGGGGAAGTCCTCCTCTATCAACGGAAGC TCACTTTATGCTACAAGTGGCAGATATCAATGACAACCCACCTACCTTCT CTCAAGTCTCCTACTTTACCTATATCCCAGAGAACAACGCCAGGGGTGCC TCCATCTTCTCAGTGACAGCGCTGGACCCGGACAGCAAAGAGAATGCCCA GATTATTTACTCCCTGGCTGAAGACACCATCCAGGGGGTACCTCTGTCCT CATACATATCCATCAACTCAGACACTGGCGTCCTGTATGCACTCAGATCC TTCGACTATGAGCAGTTTCATGAGCTACAGATGCAGGTGACAGCCAGCGA CAGCGGGGATCCTCCACTCAGCAGCAACGTGTCGTTGAGCCTGTTTGTGC TGGACCAGAACGACAATGCGCCCGAGATCCTGTACCCCGCCCTCCCCACA GACGGTTCCACAGGCGTGGAGCTGGCGCCCCGCTCCGCAGAGCCCGGCTA CCTGGTGACCAAGGTGGTGGCGGTGGACAGAGACTCCGGCCAGAACGCCT GGCTGTCCTACCGTCTGCTCAAGGCCAGCGAGCCGGGACTCTTCGCGGTG GGGGAGCACACGGGCGAGGTGCGCACGGCGCGAGCCCTGCTGGACAGAGA CGCGCTCAAGCAAAGCCTCGTAGTGGCCGTCCAGGACCACGGCCAGCCCC CTCTCTCCGCCACTGTCACGCTCACCGTGGCCGTGGCCGACAGCATCCCC CAAGTCCTGGCGGACCTCGGCAGCTTCGAGTCTCCAGCTAACTCTGAAAC CTCAGACCTCACTCTGTACCTGGTGGTAGCGGTGGCCGCGGTCTCCTGCG TCTTCCTGGCCTTCGTCATCGTGCTGCTGGCGCACAGGCTGCGGCGCTGG CACAAGTCACGCCTGCTGCAGGCTTCAGGAGGCGGCTTGACAGGTGTGTC CGGCTCGCACTTTGTGGGCGTGGACGGGGTTCGGGCTTTCCTGCAGACCT ATTCCCACGAGGTCTCTCTCACCGCGGACTCGCGAAAGAGTCACCTGATC TTCCCCCAGCCCAATTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGA GAAAAACGATCCTTTGTCTTTGTTAGATGATTCGAAGTTTCCTATAGAGG ATACCCCATTGGTTCCAGTGAGTTTTATTTTCATTTTTACTTTTGTTAAA AAAAAAAAGATTGGTTTTTACTTTGAAGTTTGCGGCATGATGGTGGAAAG TGTAAATGCTAAAACACTGATGAGTAGAATTTGATGTTTATTAAGGTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTACTTTCTGGTAAAATTCACCTA GTCTCAATCAAGGCCTATATATCATAAGGCTTTGTTATGATTAGCTTTGC AGAACCTTGTAGTTTATAGTGTTGTTGAGTACAATATTGACAATTCCTAA GACAGACTTCCATACAGAAGTGCCTGTCAATTTATATTTCCTCCTGGGTG GTCACATATTGAAACTCCAGCCCCTTAAGCAACCCTCTTGTTCTGAAGGC AGGTCTGGTAAGAATAGGTAAGTATCAGAAAGAAATCACCTCTGGAAACA CAACCCAAATCCAAGAATACTCAATGCAGTTCTTCCCAAGGAGAAGGGCA ATAGGCCTTTTTCAAACTACATTTTATATATTTTTCAATCTATACTTTGT GGTGATAGTTGCAGTTGAATATACTAAGTTTTTCATTAATATTGAATTAA CAATTTATTTATAACAATGTATGCTTAGATTTTTCCAGCCCTATTTATAA CTGATAACACTGCAGTATCCTTTTTGCATACAATTCTCTAATTTCACACT GCTATGTGGAAGATATAGCATTTTAATTTAACTTTCATTGCTCAATAGGG ATCCTGAGGAGGCTATAGAGGGTGAAATTAAGAATATTTGGGATTCTGCT TTTGTCTTTTTTGTTAAATTTTCTAGTGACTAAGGCTGAAAGTAAATATG GGTTGGGAAGACAGATAAATTTGTACATGTTCCCGAGAACAGGAGCAAGA GATATATGACAAAGCTATTTCAGTGGCTCTTTAATGTATAAGGAGGCAAA CACCTGAAACTCTGAAAACTCTGAAATTGAGAGGCAAAATAAACTTAGAG TCAAGAAAGAAATGCCATTTCTGCAGATCAGAATATAAACACCAACCACA GCTGTAAAAAAGAAAAGAATATATGCAACGAAGGGAAATTATATAAACAA AGGATCATTGGAGGTACTGATGAGTTCATTTAGTTCAATGAAAATAGTGA CGTATTAGGTAGATCTCTTAATTTTATTACTAGTATTCTACTAAATGTGG TAGTATAAAGTCAAAAAGCATTCCGAAGTTTCTCAAGACCCTTATAATTC CATGATTTTTTTCAGGTCAGTCAACATTTGTTGAATGATAGGTCTGTGGA AGGAAAGCACACTCTTTAGGGTCATAGTTATTAACTATTAAACCATTGAA ACTATTATTTTATATTTGTGTTAATGAGAGTCAAAATTATTGTGCATTCA TCTCAAATAATTCTATTATTTTGAAAAATACAGGTTTTTTTTTTAAAAAA AACTGCTCTTGACATTGTAGCTATTGTGAGAAAATATTTTGATTATAATT ATTTAAAAGCAATACAGGACACCCTGGATGATGGTAATGACTAGGGCAAT GGTTGCATTCCAGTACTTAAGTATGAAATAAGGAATTATTACTTTCTGGG TGAATATAGGCTAGAATTGAAGACAAAAAAATTTGTTGCTTATCTTCAGT ACTTCCAGCTTCATAGATAATTACTCTTAAAAGGAACAAGAATGACTGCC TCTGGATGGAGGAATTGGATAGCAATGGGCCGTGGGATAGGAGACCTATA AACCTTCATGCTATATTATTTTGTGCCTTTTTAAATTTTGAAGAAAAAAT ATTCATTTATTCAAGATATATGTAAATTCAGTAAATAAAAAGATATGATA GTTATGACCAAGTGGAAATATATTTCCTGATGTAAAAGGAATCACTGAGG AAAAAGATTAAAATATTTTGGCTGTCAACTCGTAGTTTAAAAAAAATTCC TTGAAAGAGGTAGAGAAAAGTCAAGTTGCAGTCCCACACAGAGCCTCTGG GCGCCGCCGTCGGCCAGTGCAGAGCAAGCGCTGACGCCGGGGATCCCTCA GCCTCTAGCCTGGGATTCCCTGCGCAGCCAACAACAGAAAAGAAAACCAG CTCCCACACAGAGGCTCCCGGCTGCGCAGACCTTGCCCAGCACACCAGAT TGCCAGCTCCGAGACCCGGGACTCCTCCTGTCCTGGGCCGAATGCTCTTT TAGCGCGGTAGAGTGCACTTTCTCCAACTGGAAAAGCGGGGACCCAGCGA GAACCCGAGCGAACGATGGGAGGGAGCTGCGCGCAGAGGCGCCGGGCCGG CCCGCGGCAGGTACTATTTCCTTTGCTGCTGCCTTTGTTCTACCCCACGC TGTGTGAGCCGATCCGCTACTCGATTCCGGAGGAGCTGGCCAAGGGCTCG GTGGTGGGGAACCTCGCTAAGGATCTAGGGCTTAGTGTCCTGGATGTGTC GGCTCGCG	A A	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	NA19082.hp2 NA19082.hp2	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0003 a0014c0023t0003	a0014c0023t0003g0001 a0014c0023t0003g0001	1	298	0.0034	-9657	c.238 others(13): Show c.238_2418+7476del	p.Glu others(12): Show p.Glu80_Ser806del	PCDHGB6	ENSG00000253305.3	transcript	ENST00000520790.2	protein_coding	1/4	420/4777	238/2793	80/930	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCK1_chr20_57556110_57573121	57562900	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0042	1	466	0.0021	0	c.610 others(5): Show c.610+1G>A		PCK1	ENSG00000124253.11	transcript	ENST00000319441.6	protein_coding	4/9					chr20	TogoVar
PCM1_chr8_17917988_18034948	17957776	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	366	0.0027	0	c.204 others(6): Show c.2040+1G>A		PCM1	ENSG00000078674.20	transcript	ENST00000325083.13	protein_coding	13/38					chr8	TogoVar
PELI2_chr14_56113411_56306524	56118738	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19062.hp2 NA19062.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0357 a0003c0005t0001g0357	1	366	0.0027	0	c.77+ others(4): Show c.77+1G>T		PELI2	ENSG00000139946.11	transcript	ENST00000267460.9	protein_coding	1/5					chr14	TogoVar
PER3_chr1_7779291_7850177	7819422	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0064 a0001c0004t0011g0064	1	408	0.0025	0	c.165 others(6): Show c.1658+2T>C		PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	14/21					chr1	TogoVar
PGA3_chr11_61198515_61218098	61208491	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	310	0.0032	0	c.656 others(5): Show c.656+1G>A		PGA3	ENSG00000229859.10	transcript	ENST00000325558.11	protein_coding	5/8					chr11	TogoVar
PGAM5_chr12_132705842_132727734	132711068	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19087.hp2 NA19087.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0007 a0004c0006t0007	a0004c0006t0007g0049 a0004c0006t0007g0049	1	392	0.0026	0	c.191 others(5): Show c.191+1G>C		PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	1/5					chr12	TogoVar
PGAP2_chr11_3803560_3831371	3817473	TTCTTCTG others(82): Show TTCTTCTGCATCATCTGGTCCCTGGTGTTCCACTTTGAGTACACGGTGGC CACTGACTGTGGGGTGAGTGCCAGCTCCCCAGCCCCTGGG	T T	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG02155.hp2 HG02155.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0088 a0003c0003t0001g0088	1	416	0.0024	-89	c.289 others(99): Show c.289_348+29delTTCTGCATCATCTGGTCCCTGGTGTTCCACTTTGA GTACACGGTGGCCACTGACTGTGGGGTGAGTGCCAGCTCCCCAGCCCCTG GGTC	p.Phe others(12): Show p.Phe97_Gly116del	PGAP2	ENSG00000148985.20	transcript	ENST00000278243.9	protein_coding	3/7	391/1963	289/948	97/315	INFO_REALIGN_3_PRIME	chr11	TogoVar
PHTF1_chr1_113691831_113764486	113705236	TCGAGACA others(905): Show TCGAGACAAGACTGGGCAACAAAGTAAGACCTCACCTCTACAAAAATACA AAAAATTAGTCGGGTGTGGTGGCGCAGGCCTGTAGTCCCAGCTACTGGGG AGGCTGAGCTGGAAGGACTGCTTGATCCTCAGGAGGTCAAGGCTGGAGTG AGCCGTGATCACACCACTACACTCCAACCTGGGCAATAGAACAACACCCG GTCTCAAAAAATAAAATAAAATAAATCACACTTCTTCTGCATATCACCAA TATTTTAAACCCTCCATCCATAATTTTTATCAAATTTCAATAAATTTATT TCTCACTTGGCCATTTTTCACAAAAACATTATCACATGTAGATAATTATT TTATTCTATGGATAAAAAACAAAAAAGGGACACTGAGGTGCAGATGCTAA GCAGTCGGCTAGGCTCACTCACTGGCTAAGCCACTTATTCTACACATGAG GCCTGGCAAAATTTCAGATTACAACGTGTAATATGTAAATAGTCAATAAC ACAAACAATAAATCCACAAATATCAAAAGTCCACTTATCAATCCTTTATT GCCCACATCAACTTGAAGAGAGACCAAATCAAGAGAACAAAAGCAACTCA ATGGAATATCATATACAAAAACAGGTAAAAAATTTTCCTTATTTCTCCAC TGACCTGTTTATATGTTCTCTCTGCCACACACATCATGAAAAAAAACATC CAAGTAAGACACAATCTTTCAAAAAAATTAATTATCGACAAAACAATAAT AGGTGTAACAGGTGGTGCCCCACAAAAGAGAGTCAAGATCTCCTCAGCTG AAATGGACTTTAGTTGGTCAAGGCTCTTCTCACGGAAAAGTCGATGTAAG AATGGAAAAAATGCTAATCCAATAGTGACAACATTTCCCAGCATCTGATA ACCTACTCCTTGC	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0012 a0004c0005t0012	a0004c0005t0012g0018 a0004c0005t0012g0018	1	328	0.0030	-912	c.141 others(13): Show c.1413_1672-440del	p.Gln others(5): Show p.Gln472fs	PHTF1	ENSG00000116793.16	transcript	ENST00000369604.6	protein_coding	13/19		1413/2289	471/762		chr1	TogoVar
PIEZO1_chr16_88710338_88790220	88734873	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0100 a0001c0100	a0001c0100t0001 a0001c0100t0001	a0001c0100t0001g0119 a0001c0100t0001g0119	1	280	0.0036	0	c.184 others(6): Show c.1848+2T>G		PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	14/50					chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88734874	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0100 a0001c0100	a0001c0100t0001 a0001c0100t0001	a0001c0100t0001g0119 a0001c0100t0001g0119	1	280	0.0036	0	c.184 others(6): Show c.1848+1G>T		PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	14/50					chr16	TogoVar
PIGQ_chr16_564968_589109	576255	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00738.hp2 HG00738.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0091 a0003c0003t0003g0091	1	406	0.0025	0	c.942 others(5): Show c.942+1G>A		PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	4/10					chr16	TogoVar
PIH1D2_chr11_112062798_112079017	112073978	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	382	0.0026	0	c.-32 others(5): Show c.-32+2T>G		PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding	1/5					chr11	TogoVar
PIK3C2A_chr11_17081575_17212986	17114359	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0219 a0001c0002t0008g0219	1	340	0.0029	0	c.332 others(6): Show c.3321+2T>G		PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	20/32					chr11	TogoVar
PIP5K1C_chr19_3625183_3705468	3664820	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0014 a0001c0001t0017g0014	1	330	0.0030	0	c.219 others(5): Show c.219+2T>C		PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	3/17					chr19	TogoVar
PIWIL3_chr22_24714034_24779720	24728176	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	2	384	0.0052	0	c.190 others(6): Show c.1905+1G>A		PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	15/20					chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24774320	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02280.hp1 HG02970.hp1 NA18906.hp1 HG02280.hp1 HG02970.hp1 NA18906.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0012 a0002c0011t0002g0013 a0002c0011t0002g0014 a0002c0011t0002g0012 a0002c0011t0002g0013 a0002c0011t0002g0014	3	384	0.0078	0	c.-23 others(5): Show c.-23+2T>C		PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	1/20					chr22	TogoVar
PKHD1L1_chr8_109357461_109542207	109438458	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18747.hp2 NA18747.hp2	a0016 a0016	a0016c0064 a0016c0064	a0016c0064t0001 a0016c0064t0001	a0016c0064t0001g0041 a0016c0064t0001g0041	1	280	0.0036	0	c.376 others(6): Show c.3760+2T>C		PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	31/77					chr8	TogoVar
PKHD1L1_chr8_109357461_109542207	109459837	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00735.hp1 HG01081.hp1 HG01175.hp1 others(14): Show HG00735.hp1 HG01081.hp1 HG01175.hp1 HG01257.hp1 HG01516.hp2 HG01934.hp2 HG01952.hp1 HG01993.hp1 HG02004.hp1 HG02083.hp1 HG02273.hp1 HG02698.hp1 HG03704.hp2 HG03710.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0032 a0069 a0001 a0032 a0069	a0001c0001 a0032c0058 a0069c0078 a0001c0001 a0032c0058 a0069c0078	a0001c0001t0002 a0001c0001t0010 a0032c0058t0002 others(1): Show a0001c0001t0002 a0001c0001t0010 a0032c0058t0002 a0069c0078t0007	a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0182 others(14): Show a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0192 a0001c0001t0002g0252 a0001c0001t0002g0260 a0001c0001t0010g0187 a0001c0001t0010g0188 a0001c0001t0010g0189 a0001c0001t0010g0190 a0001c0001t0010g0191 a0001c0001t0010g0266 a0032c0058t0002g0183 a0069c0078t0007g0049	17	280	0.0607	0	c.724 others(6): Show c.7246+1G>C		PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	47/77					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	a0004c0004t0001g0216 a0004c0004t0001g0263 a0004c0004t0001g0216 a0004c0004t0001g0263	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
PLA2G2D_chr1_20106939_20124536	20119457	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	462	0.0022	0	c.40+ others(4): Show c.40+2T>G		PLA2G2D	ENSG00000117215.15	transcript	ENST00000375105.8	protein_coding	1/3					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	a0023 a0023	a0023c0068 a0023c0068	a0023c0068t0001 a0023c0068t0001	a0023c0068t0001g0098 a0023c0068t0001g0098	1	320	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
PLA2G7_chr6_46699201_46740375	46711495	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02738.hp2 HG04115.hp1 HG02738.hp2 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0130 a0002c0002t0001g0173 a0002c0002t0001g0130 a0002c0002t0001g0173	2	390	0.0051	0	c.663 others(5): Show c.663+1G>A		PLA2G7	ENSG00000146070.17	transcript	ENST00000274793.12	protein_coding	7/11					chr6	TogoVar
PLA2G7_chr6_46699201_46740375	46722781	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02922.hp1 HG02922.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0184 a0006c0006t0001g0184	1	390	0.0026	0	c.109 others(5): Show c.109+2T>C		PLA2G7	ENSG00000146070.17	transcript	ENST00000274793.12	protein_coding	2/11					chr6	TogoVar
PLAAT1_chr3_193236222_193275855	193255790	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	396	0.0025	0	c.139 others(5): Show c.139+1G>A		PLAAT1	ENSG00000127252.7	transcript	ENST00000264735.4	protein_coding	2/3					chr3	TogoVar
PLAC9_chr10_80127730_80150359	80144341	G G	GAGA GAGA	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01516.hp2 HG02683.hp1 HG02970.hp2 HG01516.hp2 HG02683.hp1 HG02970.hp2	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0001 a0002c0006t0001 a0002c0003t0001 a0002c0006t0001	a0002c0003t0001g0207 a0002c0003t0001g0217 a0002c0006t0001g0202 a0002c0003t0001g0207 a0002c0003t0001g0217 a0002c0006t0001g0202	3	464	0.0065	3	c.283 others(12): Show c.283_283+1insAAG		PLAC9	ENSG00000189129.14	transcript	ENST00000372263.4	protein_coding	3/3				INFO_REALIGN_3_PRIME	chr10	TogoVar
PLCZ1_chr12_18678180_18743012	18701691	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	324	0.0031	0	c.949 others(5): Show c.949+1G>A		PLCZ1	ENSG00000139151.16	transcript	ENST00000266505.12	protein_coding	8/14					chr12	TogoVar
PLD3_chr19_40343695_40383485	40377886	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	362	0.0028	0	c.128 others(6): Show c.1285+1G>T		PLD3	ENSG00000105223.21	transcript	ENST00000409735.9	protein_coding	12/12					chr19	TogoVar
PLEKHA2_chr8_38896346_38978912	38901439	C C	CG CG	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(333): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0008 others(5): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0003c0005 a0004c0006 a0005c0004 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0003t0001 a0001c0008t0017 a0002c0002t0001 a0002c0002t0004 a0002c0002t0031 a0003c0005t0002 a0004c0006t0001 a0005c0004t0005 a0006c0009t0008	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0014 others(330): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0321 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0355 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0365 a0001c0001t0001g0368 a0001c0001t0001g0372 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0175 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0216 a0001c0001t0002g0222 a0001c0001t0002g0229 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0266 a0001c0001t0002g0305 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0312 a0001c0001t0002g0323 a0001c0001t0002g0326 a0001c0001t0002g0335 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0344 a0001c0001t0002g0349 a0001c0001t0002g0354 a0001c0001t0002g0359 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0369 a0001c0001t0002g0370 a0001c0001t0003g0003 a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0040 a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0003g0081 a0001c0001t0003g0088 a0001c0001t0003g0101 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0003g0128 a0001c0001t0003g0134 a0001c0001t0003g0137 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0178 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0254 a0001c0001t0003g0264 a0001c0001t0003g0276 a0001c0001t0003g0292 a0001c0001t0003g0296 a0001c0001t0003g0320 a0001c0001t0003g0328 a0001c0001t0003g0345 a0001c0001t0004g0032 a0001c0001t0004g0109 a0001c0001t0004g0115 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0236 a0001c0001t0004g0245 a0001c0001t0004g0257 a0001c0001t0004g0268 a0001c0001t0004g0285 a0001c0001t0004g0294 a0001c0001t0004g0313 a0001c0001t0004g0318 a0001c0001t0004g0347 a0001c0001t0004g0367 a0001c0001t0005g0015 a0001c0001t0005g0035 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0005g0064 a0001c0001t0005g0203 a0001c0001t0005g0221 a0001c0001t0005g0300 a0001c0001t0005g0341 a0001c0001t0005g0346 a0001c0001t0005g0353 a0001c0001t0005g0358 a0001c0001t0006g0020 a0001c0001t0006g0097 a0001c0001t0006g0111 a0001c0001t0006g0267 a0001c0001t0006g0303 a0001c0001t0006g0315 a0001c0001t0006g0331 a0001c0001t0006g0337 a0001c0001t0006g0348 a0001c0001t0008g0012 a0001c0001t0008g0108 a0001c0001t0008g0225 a0001c0001t0008g0287 a0001c0001t0008g0291 a0001c0001t0008g0333 a0001c0001t0009g0001 a0001c0001t0009g0080 a0001c0001t0009g0089 a0001c0001t0009g0092 a0001c0001t0009g0093 a0001c0001t0009g0228 a0001c0001t0010g0195 a0001c0001t0010g0259 a0001c0001t0010g0260 a0001c0001t0010g0278 a0001c0001t0010g0307 a0001c0001t0010g0314 a0001c0001t0012g0086 a0001c0001t0012g0193 a0001c0001t0012g0211 a0001c0001t0012g0213 a0001c0001t0012g0224 a0001c0001t0014g0208 a0001c0001t0014g0247 a0001c0001t0014g0248 a0001c0001t0014g0249 a0001c0001t0015g0179 a0001c0001t0015g0239 a0001c0001t0015g0286 a0001c0001t0015g0322 a0001c0001t0017g0061 a0001c0001t0017g0223 a0001c0001t0018g0130 a0001c0001t0018g0243 a0001c0001t0018g0373 a0001c0001t0019g0071 a0001c0001t0019g0090 a0001c0001t0020g0009 a0001c0001t0020g0073 a0001c0001t0021g0215 a0001c0001t0021g0277 a0001c0001t0022g0185 a0001c0001t0022g0186 a0001c0001t0023g0356 a0001c0001t0023g0357 a0001c0001t0024g0083 a0001c0001t0024g0091 a0001c0001t0025g0010 a0001c0001t0025g0072 a0001c0001t0026g0082 a0001c0001t0026g0084 a0001c0001t0030g0037 a0001c0001t0032g0094 a0001c0001t0033g0170 a0001c0001t0034g0210 a0001c0001t0035g0212 a0001c0001t0036g0306 a0001c0001t0037g0180 a0001c0001t0038g0234 a0001c0001t0039g0273 a0001c0001t0040g0265 a0001c0001t0041g0304 a0001c0001t0042g0241 a0001c0001t0043g0059 a0001c0001t0044g0289 a0001c0001t0045g0301 a0001c0001t0046g0197 a0001c0001t0047g0182 a0001c0001t0048g0366 a0001c0003t0001g0319 a0001c0008t0017g0371 a0002c0002t0001g0194 a0002c0002t0004g0070 a0002c0002t0031g0034 a0003c0005t0002g0332 a0004c0006t0001g0044 a0005c0004t0005g0351 a0006c0009t0008g0174	336	372	0.9032	1	c.-24 others(6): Show c.-24+1dupG		PLEKHA2	ENSG00000169499.15	transcript	ENST00000617275.5	protein_coding	1/11				INFO_REALIGN_3_PRIME	chr8	TogoVar
PLEKHG4B_chr5_87168_194966	169593	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0063 a0002c0005t0063	a0002c0005t0063g0081 a0002c0005t0063g0081	1	208	0.0048	0	c.372 others(6): Show c.3729+1G>A		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	14/19					chr5	TogoVar
PLEKHN1_chr1_961482_980865	972984	GTGGGCTG others(25): Show GTGGGCTGCTCCTCCCAGCACACACCGGTGAGC	G G	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02895.hp1 HG02895.hp1	a0017 a0017	a0017c0040 a0017c0040	a0017c0040t0002 a0017c0040t0002	a0017c0040t0002g0112 a0017c0040t0002g0112	1	420	0.0024	-32	c.112 others(43): Show c.1127_1152+6delTGGGCTGCTCCTCCCAGCACACACCGGTGAGC	p.Val others(5): Show p.Val376fs	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding	11/16	1177/3176	1127/1836	376/611		chr1	TogoVar
PLEKHN1_chr1_961482_980865	974048	GCTTGTGA others(26): Show GCTTGTGAGTAGCAGCCCCCACGCCCGTGTGCCC	G G	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19000.hp2 NA19000.hp2	a0020 a0020	a0020c0042 a0020c0042	a0020c0042t0014 a0020c0042t0014	a0020c0042t0014g0099 a0020c0042t0014g0099	1	420	0.0024	-33	c.165 others(45): Show c.1652_1653+31delTTGTGAGTAGCAGCCCCCACGCCCGTGTGCCCC	p.Leu others(5): Show p.Leu551fs	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding	14/16	1702/3176	1652/1836	551/611	INFO_REALIGN_3_PRIME	chr1	TogoVar
PLK5_chr19_1519077_1541046	1534043	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(207): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0006 a0011 others(1): Show a0001 a0006 a0011 a0012	a0001c0001 a0001c0007 a0001c0016 others(4): Show a0001c0001 a0001c0007 a0001c0016 a0001c0020 a0006c0009 a0011c0018 a0012c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(32): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0037 a0001c0001t0039 a0001c0001t0041 a0001c0001t0043 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0065 a0001c0001t0066 a0001c0007t0008 a0001c0007t0076 a0001c0016t0001 a0001c0020t0005 a0006c0009t0001 a0011c0018t0011 a0012c0013t0050	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(149): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0165 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0004g0015 a0001c0001t0004g0042 a0001c0001t0004g0236 a0001c0001t0004g0238 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0243 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0255 a0001c0001t0004g0257 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0265 a0001c0001t0004g0275 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0298 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0005g0009 a0001c0001t0005g0014 a0001c0001t0005g0039 a0001c0001t0005g0056 a0001c0001t0005g0183 a0001c0001t0005g0196 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0211 a0001c0001t0005g0213 a0001c0001t0005g0220 a0001c0001t0005g0221 a0001c0001t0008g0008 a0001c0001t0008g0026 a0001c0001t0008g0036 a0001c0001t0008g0135 a0001c0001t0009g0034 a0001c0001t0009g0035 a0001c0001t0009g0175 a0001c0001t0009g0176 a0001c0001t0009g0177 a0001c0001t0009g0178 a0001c0001t0009g0182 a0001c0001t0009g0272 a0001c0001t0011g0028 a0001c0001t0011g0146 a0001c0001t0011g0147 a0001c0001t0011g0150 a0001c0001t0011g0151 a0001c0001t0013g0209 a0001c0001t0022g0009 a0001c0001t0022g0038 a0001c0001t0023g0022 a0001c0001t0023g0115 a0001c0001t0023g0234 a0001c0001t0024g0245 a0001c0001t0024g0246 a0001c0001t0024g0248 a0001c0001t0028g0193 a0001c0001t0028g0194 a0001c0001t0030g0125 a0001c0001t0030g0126 a0001c0001t0031g0041 a0001c0001t0031g0227 a0001c0001t0032g0168 a0001c0001t0032g0169 a0001c0001t0037g0055 a0001c0001t0039g0065 a0001c0001t0041g0215 a0001c0001t0043g0179 a0001c0001t0047g0218 a0001c0001t0049g0123 a0001c0001t0051g0057 a0001c0001t0056g0022 a0001c0001t0057g0273 a0001c0001t0058g0041 a0001c0001t0059g0137 a0001c0001t0061g0042 a0001c0001t0065g0185 a0001c0001t0066g0186 a0001c0007t0008g0026 a0001c0007t0008g0132 a0001c0007t0008g0133 a0001c0007t0076g0305 a0001c0016t0001g0002 a0001c0020t0005g0210 a0006c0009t0001g0001 a0006c0009t0001g0025 a0006c0009t0001g0096 a0011c0018t0011g0145 a0012c0013t0050g0074	210	428	0.4907	0	c.825 others(5): Show c.825+2T>C		PLK5	ENSG00000185988.15	transcript	ENST00000454744.7	protein_coding	13/13					chr19	TogoVar
PLXNB3_chrX_153759249_153784341	153778097	T T	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA21309.hp1 NA21309.hp1	a0018 a0018	a0018c0031 a0018c0031	a0018c0031t0001 a0018c0031t0001	a0018c0031t0001g0060 a0018c0031t0001g0060	1	306	0.0033	0	c.540 others(6): Show c.5409+2T>A		PLXNB3	ENSG00000198753.12	transcript	ENST00000361971.10	protein_coding	32/35					chrX	TogoVar
PNPLA7_chr9_137454952_137555402	137501647	CACCTGGT others(27): Show CACCTGGTCTCCCTGCCTTGACACCACCGTGCCTG	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01496.hp2 HG01496.hp2	a0017 a0017	a0017c0049 a0017c0049	a0017c0049t0001 a0017c0049t0001	a0017c0049t0001g0136 a0017c0049t0001g0136	1	186	0.0054	-34	c.152 others(45): Show c.1520_1551+2delCAGGCACGGTGGTGTCAAGGCAGGGAGACCAGGT	p.Ala others(5): Show p.Ala507fs	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	15/35		1520/4029	507/1342		chr9	TogoVar
POLL_chr10_101573882_101593257	101580230	CAGAGATG others(17): Show CAGAGATGGAGCTTATACCTTCCTG	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18968.hp1 NA18968.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0025 a0008c0007t0001g0025	1	392	0.0026	-24	c.135 others(36): Show c.1357_1363+17delCAGGAAGGTATAAGCTCCATCTCT	p.Gln others(5): Show p.Gln453fs	POLL	ENSG00000166169.17	transcript	ENST00000370162.8	protein_coding	8/9		1357/1728	453/575		chr10	TogoVar
POLR1A_chr2_86015216_86110886	86028592	A A	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19056.hp1 NA19056.hp1	a0017 a0017	a0017c0025 a0017c0025	a0017c0025t0001 a0017c0025t0001	a0017c0025t0001g0268 a0017c0025t0001g0268	1	338	0.0030	0	c.489 others(6): Show c.4897+2T>A		POLR1A	ENSG00000068654.17	transcript	ENST00000263857.11	protein_coding	32/33					chr2	TogoVar
POLR1A_chr2_86015216_86110886	86028593	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19056.hp1 NA19056.hp1	a0017 a0017	a0017c0025 a0017c0025	a0017c0025t0001 a0017c0025t0001	a0017c0025t0001g0268 a0017c0025t0001g0268	1	338	0.0030	0	c.489 others(6): Show c.4897+1G>T		POLR1A	ENSG00000068654.17	transcript	ENST00000263857.11	protein_coding	32/33					chr2	TogoVar
POLR1A_chr2_86015216_86110886	86077843	ACACACAC others(8): Show ACACACACACACACAC	A A	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0317 a0001c0001t0035g0317	1	338	0.0030	-15	c.138 others(29): Show c.1380+1_1380+15delGTGTGTGTGTGTGTG		POLR1A	ENSG00000068654.17	transcript	ENST00000263857.11	protein_coding	11/33					chr2	TogoVar
POLRMT_chr19_612221_638537	617761	CAGACTAC others(24): Show CAGACTACGGGGGCACCTGGTTCATGACGGAG	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18965.hp1 NA18965.hp1	a0033 a0033	a0033c0071 a0033c0071	a0033c0071t0004 a0033c0071t0004	a0033c0071t0004g0146 a0033c0071t0004g0146	1	420	0.0024	-31	c.348 others(43): Show c.3480_3495+15delCTCCGTCATGAACCAGGTGCCCCCGTAGTCT	p.Ser others(6): Show p.Ser1161fs	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	18/21		3480/3693	1160/1230		chr19	TogoVar
POTED_chr21_13604777_13650823	13620297	T T	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0123 a0001c0001t0022g0123	1	414	0.0024	0	c.105 others(6): Show c.1055+2T>A		POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding	5/10					chr21	TogoVar

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