Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ZDHHC11_chr5_790605_855986	827717	CTGCCAAA others(761): Show CTGCCAAATTTATTTTTTTTTATTCTTTATTTTTTTTTTTTTATTGATCA TTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATAGGACAATA GTGGAGGGAAGGTCAACAGAAAAACAAGTGAACAAAGGTCTCTGGCTTTC CTAGGCAGAGGACCCAGCGGCCTTCCCCAGTGTTTGTGTCCCTGGGTACT TGAGATTAGGGAGTGGTGATGACTCTTAATGAGCATGCTGCCTTCAAGCA TCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGA GTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCATA GATCAACAGGATCCCAAGGCAGAATTTTTCTTAGTACAGAACAAAATGAA AAGTCTCCCATGTCTACTTCTTTCTACACAGACACAGCAACCATCCGATT TCTCAATCTTTTCCCCACCTTTCCCCCTTTTCTATTCCACAAAACCGCCA TTGTCATCATGGCCCGTTCTCAGTGAGCTGTTGGGTACACCTTCCAGACG GGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGAAGGGGCGGCCGG GCGGAGGCACCCCCCACCTCCCAGATGCGGCAGCTGGCCGGGTGGAGGTG CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGAGGTGCCCCC CACCTCCCTCCTGGACGGGGCGGCCGGCCGGGTGGGGGCTGACCCCCCAC CTCCCTCCCGGACGGGGGA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02257.hp2 others(12): Show HG02055.hp1 HG02145.hp2 HG02257.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02723.hp2 HG02976.hp2 HG03195.hp1 HG03453.hp1 NA18522.hp1 NA18944.hp2 NA20129.hp1 NA20300.hp2	a0002 a0003 a0006 others(3): Show a0002 a0003 a0006 a0007 a0012 a0016	a0002c0002 a0003c0003 a0006c0005 others(3): Show a0002c0002 a0003c0003 a0006c0005 a0007c0008 a0012c0011 a0016c0022	a0002c0002t0011 a0003c0003t0011 a0006c0005t0005 others(4): Show a0002c0002t0011 a0003c0003t0011 a0006c0005t0005 a0006c0005t0006 a0007c0008t0012 a0012c0011t0006 a0016c0022t0001	a0002c0002t0011g0279 a0003c0003t0011g0255 a0006c0005t0005g0287 others(11): Show a0002c0002t0011g0279 a0003c0003t0011g0255 a0006c0005t0005g0287 a0006c0005t0006g0015 a0006c0005t0006g0243 a0006c0005t0006g0245 a0006c0005t0006g0246 a0006c0005t0006g0248 a0007c0008t0012g0033 a0007c0008t0012g0034 a0007c0008t0012g0035 a0007c0008t0012g0036 a0012c0011t0006g0244 a0016c0022t0001g0160	15	312	0.0481	-768	c.936 others(17): Show c.936-3234_936-2467del	ZDHHC11	ENSG00000188818.13	transcript	ENST00000283441.13	protein_coding	7/12			chr5	TogoVar
ARHGAP39_chr8_144524179_144690846	144531269	GGGCTAGA others(760): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGG CAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACA TAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTG GGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGG TGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGG AGCAGCAGGTGGGGAGTA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0105 a0001c0001t0016g0105	1	246	0.0041	-767	c.298 others(17): Show c.2980+269_2981-399del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531269	GGGCTAGA others(760): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGG CAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACA TAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTG GGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGG TGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGG AGCAGCAGGTGGGGAGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0019 a0003c0005t0019	a0003c0005t0019g0054 a0003c0005t0019g0054	1	398	0.0025	-767	c.-31 others(11): Show c.-3120_-2354del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2159		chr8	TogoVar
DNMT3A_chr2_25222874_25346925	25320666	ACTATTAC others(760): Show ACTATTACAGTGCACCACAAGGCTCAGCTGTGAATAATAGTTTTATCGAA ATAATAAAATAAACACTGTGTGTAGGTTTAACAAATATATGTGTGTGTAC ATATATATGTATATATGCATGTATGTACACACAAATTACTTTTGTATGTA CCACAAAATTAATGCCTTAAAACAACACATTATCGGCCGGGCGCGGTGGC TCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGTGGATCACCT GAGGTCGGAAGTTCAAGACCAGCCTGACCAACATGGAGAAACTCCGTCTC TACTAAAAATACAAAAATTAGCCAGGCATGATGGTGCATTCCTGTAATCC CAGCTACTCGGGAAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCG GAGGTTGCGGTGAGCGGAGATGGCACCATTGTACTCCACCCTGGGCAACA AAAGCGAAACTCCGTCTCAAAAAAAAAAATTATCTTGCAATTCTGCAAGT CAGTAGTAAAAAAAAAAAAAGATTCTCCTTACTAGGCTAAACTCAAGATG TTGGCAGGGCTGCATTCTTTTCTGGAAACTCTAAGGAGAATCCATTTCCT TGACATTTTCAACATCTAGAGGCTGCCCTCATTCCTTGCCACGTGGTCCC CTTCCAACTCCAAAGCCAGCGATGGCCAGTCTTTTTCCCATCACAGTACT CTCTGCCTCATCAACATCTCCTGCTCTGACTACTCTTCTGCTTCCATCTT TCACTTCTAATGACCCTT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0149 a0001c0001t0035g0149	1	294	0.0034	-767	c.-17 others(19): Show c.-177-7272_-177-6506del	DNMT3A	ENSG00000119772.19	transcript	ENST00000321117.10	protein_coding	1/22			chr2	TogoVar
LAMP1_chr13_113292239_113328672	113314343	CGTGTGCC others(760): Show CGTGTGCCTGGGGCGGGGCCTCCTGGAGGGAACCAGCGTGGAGATGCCCA TGTGCCTGGGGCGTGGCCTCCTAGAGGGAGTCAGTGTGGAGATGCCCGTG TGCCTGGGGCGTGGCCTCCTGGAGGGAACCAGTGTGGAGATGCCAGTGTG CCTGGGGCGTGGCCTCCTAGAGGGAGTCAGTGTGGAGATGCCCGTGTGCC TGGGGCGTGGCCTCCTGGAGGGAACCAGTGTGGAGATGTCGGTGTGCCTG GGGCGTGGCCTCCTAGAGGGAGTCAGTGTGGAGATGCCCGTGTGCCTGGG GCGTGGCCTCCTGGAGGGAACCAGTGTGGAGATGTCGGTGTGCCTGGGGC GTGGCCTCCTAGAGGGAGTCAGTGTGGAGATGCCCGTGTGCCTGGGGCGT GGCCTCCTGGAGGGAACCAGTGTGGAGATGTCGGTGTGCCTGGGGCGTGG CCTCCTAGAGGGAGTCAGTGTGGAGATGCCCATGTGCCTGGGGCGTGGCC TCCTGGAGGCAGCCAGTGTGGAGATGCCAGTGTGCCTGGGGCGTGGCCTC CTAGAGGGAGTCAGTGTGGAGATGCCCGTGTGCCTGGGGCATGGCCTCCT GGAGGGAACCAGTGTGGAGATGCCAGTGTGCCTGGGGCGTGGCCTCCTGA GGGAGTCAGTGTGGAGATGCCCGTGTGCCTGGGGCGTGGCCTCCTGGAGG GAACCAGTGTGGAGATGTCGGTGTGTCTGGGGTGTGGCCTCCTAGAGGGA ACCAGTGTGGAGATGTCG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG01943.hp2 others(19): Show HG00558.hp1 HG00621.hp1 HG01943.hp2 HG01952.hp2 HG02015.hp2 HG02080.hp2 HG02155.hp1 NA18939.hp2 NA18947.hp2 NA18953.hp1 NA18955.hp2 NA18964.hp1 NA18968.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18993.hp2 NA18994.hp1 NA19002.hp1 NA19003.hp1 NA19074.hp2 NA19078.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0007 a0002c0002 a0005c0007	a0002c0002t0002 a0002c0002t0016 a0005c0007t0002 a0002c0002t0002 a0002c0002t0016 a0005c0007t0002	a0002c0002t0002g0003 a0002c0002t0002g0022 a0002c0002t0002g0023 others(18): Show a0002c0002t0002g0003 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0041 a0002c0002t0016g0031 a0005c0007t0002g0038 a0005c0007t0002g0039 a0005c0007t0002g0040	22	354	0.0622	-767	c.562 others(17): Show c.562+3491_562+4257del	LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MARCHF11_chr5_16062139_16184791	16149903	AACATAAT others(760): Show AACATAATGTTAATCCAAGGAAGCCCAAGACAAGACAATAAACACCATGA GATTCCATTTATACAAAGTCCATAAACAGATAAAACGAATCCATTTTGAT AGGAGTTACCTTTGTGGGGCTGTCTACTCGGAGGGAATACATGGAAGCCT GTTGGGAACTGAAACTTCCTCTGTCTTGATCTGGGTGGTGGTGACACAGG TGTACATGTATAAAAGATTTATCAAGTTATACAGTTTAGATTTATGCACT TTATTCTCTGTGGGTCATTCCTTAATGAAAAAGTACATCACTACAAATAG ATTATATAATTCTTAGAATTTATAAGGGACAGCAGGGAGTTATGAGAGCT AATTCCTGCTGCAGTCTGTGCTGCTCAAAACTAGTAAGTAGTGTGAGAGT CTTGTCTTTCCAGGCCCTGGTAGCCAGTCACAAAGCTGGAAAGAGCAGAA TTGAGGATAAATGTGCTCCTGCCTACCTAAATCCAAAAATCAATCCACCT TAGAAACATAGTATGTGGTTCTACAGAACAGGCAGGGTAAATGGCCTCCA TGGGCAAGCCTGAGAGCCCTGCATTGTCTCTGTGAGTGGGAAAAGTATTG GGATCTACAAACAGGTTTAACTCATTACCTGTTAGTGAGTTGGAGGTGGC CTTTTGTAACAGTGTAATGGTCAGGTCTGCGGTACATTCATGGTTTTTAT CCGGTATTAGTTACTCTCCTATAGCTAGCTCATCCTCTGAATTTCCTCTC ATGCTCACCTCTCTCCAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp2 HG02145.hp1 others(19): Show HG01243.hp2 HG01255.hp2 HG02145.hp1 HG02258.hp1 HG02615.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18981.hp1 NA18995.hp2 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0004 a0001c0001t0001g0171 a0001c0001t0001g0172 others(18): Show a0001c0001t0001g0004 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0256 a0001c0001t0001g0277 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0247 a0001c0001t0002g0286 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0002g0008	22	298	0.0738	-767	c.693 others(19): Show c.693+27056_693+27822del	MARCHF11	ENSG00000183654.9	transcript	ENST00000332432.9	protein_coding	2/3			chr5	TogoVar
OPN1SW_chr7_128767485_128780794	128779720	AAAAAATA others(760): Show AAAAAATACAAAAATTTGCTGGGCATGGTGGCGCACTCCTGTATAGTCCC AGCTATTTGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCAGGAGGCAGA GGTTGCGGTGAGCTGAGATTGTGCTGCTGCCCTCCAGCCTGGGCAACAGA GCGGGACTGTGTCTCAAAACCAAAAAACAAAATAAAATAAAAAATAAAAA CTAGAGGCATCTTAAGTGCATTTAGTTATACAGTGCTCTTCCCAGGCTGA AAATCACCTTATTAATTTAGAACATGTTAATACACTAAGGCTTTACAGAA GATCACATGAAATACACTTAGACCAGGATTTCTCAACGTTGGCACTATTG ACATTGCAGATAATTCTTTGTCTGGGGGCTGTCCTGTGCATTGTAGGATG TTGAACAGTGTCCCTCTCCTCTAGATGCCAAAATCAACACTACCAGCCCA GTCATGATAACCAAAAATGTCTCCCGACATTGTCAAATGCCTCCTGAGAG ACAAAACCCTTCCCCACTCCCCTCCCCTCCAGCTGAGATCCAACCATTGA TTTAGATTTAGACTTACAAATGCTCAGAACCCAATATAATACAATCAAGT GAAAATTTGTTTTTCCATATATATATGTGTGTGGCCGCATATATATATGG CCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CAGGTGGATTACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAG TGAAACCCCGTCTCTACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	388	0.0026	-767	c.-47 others(11): Show c.-4706_-3940del	OPN1SW	ENSG00000128617.3	transcript	ENST00000249389.3	protein_coding		3927		chr7	TogoVar
SLC35E4_chr22_30630781_30652893	30649479	AGCCCACG others(760): Show AGCCCACGGCGGGGTGGGAGTGGGTAGGGAAGGCCTAGGAGGACCGGTAT GGGGTTTCCTGGTTCCAGCCTCCGCCCAGGCTGCCTTACAGAAGGGGAAG TCGGCCTGGGCTGAGTCACCTGTCACCCACCCTCTCTATGACTCAGAGAT GCCGCTGGCCCAGCCCAGTCCCTGAGCAGCTTGGGTACCTCTGGCCTCCA CTCTCAGGCTTTGCCAGGCAGGATGGAGGGATGGATGGCTGTGGTCAAAT CCTCCTCGGTGACTCAGGACCCTTTCCCATCCAACTGGCCCCCACTGCCA TAGCAGGGACCTCCCTGTACCACCCTCATTTCTAGGCCTTGTGGGATGCT TGGCTAATGAGTGAGCCTCACATCAGATTAAAGCCTGCCCCTGGTGGTTG TGGGGACAGGTAATTGGGGTTGTGTGTGACCTGGGAGCTGGTTTGTCACC AGATTCAGGACCATTAGACATTGAGGTGATTCCCCCAAGGCCACAGCCAA AGCCATGCCTATCACCCCTCCCAGCAGTGGGCACAGAGAGCGCTGGATTG GGAGTCAAAAAGCTTGGGTTTGGTGGGATGTGGTGGCTCACGCCTGTAAT CCCAGTACTTTGGGAGTCCGAGGGGGGCGGATCACCTGAAGTCAGGAGTT CAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACA AAAATTAGCTGGGCATGGTGGCAGCCGCCTGTAATCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG01081.hp1 others(14): Show HG00280.hp2 HG00733.hp2 HG01081.hp1 HG01081.hp2 HG01884.hp1 HG02258.hp1 HG02300.hp2 HG02451.hp2 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03195.hp1 HG03516.hp2 HG03831.hp2 HG03927.hp1 NA19030.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0043 a0001c0001t0002g0086 others(10): Show a0001c0001t0002g0020 a0001c0001t0002g0043 a0001c0001t0002g0086 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135	17	424	0.0401	-767	c.24 others(11): Show c.2449_*3215del	SLC35E4	ENSG00000100036.13	transcript	ENST00000343605.5	protein_coding		1587		chr22	TogoVar
SVOPL_chr7_138589285_138706362	138611696	TGAAAGAT others(760): Show TGAAAGATAAGACTTTGGTTAAAAGATTGAAAATTAAAGCTAGATAGGAG GAATAAGTTCTAATGCTCTATACCATTATGGTATGACAATAGTTAATAAT ATATAGCTTCGACAACCTACACCTCCCAGCCGCCTGCCTTGGCCTCCCAA AGTGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAGGTGT GCCCAACAGCTCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTGG AATAGAAAGGCGGGAAAGGCGGGGAAAGGATTGGGAAATCGGATGGTTGC CGGGTCTGTGTAGAAAGAGGTAGACATGGGAGACTTTTCATTTTGTTCTG CACTAAGAAAAATTCCTCTGTCTTGGGATCCTGTTGATCTGTGACCTTAC CCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAA TGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGATTGAAGGC AGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGG ACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAG ACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCAT GACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAA AAAATAAATTAAAAAAAAAAAAAAAAAATAAAATAAAAAATAAAAAAAAA ATAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00544.hp2 others(205): Show HG00140.hp2 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19074.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011	a0001c0001 a0001c0002 a0001c0005 others(22): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0014 a0001c0019 a0001c0025 a0001c0026 a0001c0035 a0002c0003 a0002c0004 a0002c0006 a0002c0010 a0003c0007 a0003c0009 a0003c0011 a0004c0012 a0004c0013 a0005c0018 a0006c0024 a0006c0030 a0007c0034 a0008c0022 a0010c0031 a0011c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0009 a0001c0005t0001 a0001c0005t0002 a0001c0008t0001 a0001c0008t0002 a0001c0014t0001 a0001c0014t0006 a0001c0019t0001 a0001c0025t0001 a0001c0026t0003 a0001c0035t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0008 a0002c0004t0001 a0002c0004t0002 a0002c0006t0001 a0002c0006t0003 a0002c0006t0006 a0002c0010t0001 a0003c0007t0001 a0003c0007t0002 a0003c0007t0004 a0003c0009t0002 a0003c0011t0001 a0003c0011t0002 a0003c0011t0005 a0004c0012t0001 a0004c0013t0001 a0005c0018t0001 a0006c0024t0001 a0006c0030t0001 a0007c0034t0001 a0008c0022t0001 a0010c0031t0001 a0011c0032t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 others(205): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0060 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0132 a0001c0001t0001g0157 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0289 a0001c0001t0001g0295 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0323 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0333 a0001c0001t0001g0337 a0001c0001t0001g0346 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0028 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0100 a0001c0001t0002g0104 a0001c0001t0002g0141 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0340 a0001c0001t0003g0033 a0001c0001t0003g0105 a0001c0001t0003g0228 a0001c0001t0004g0234 a0001c0001t0005g0106 a0001c0001t0006g0357 a0001c0001t0006g0358 a0001c0001t0007g0001 a0001c0002t0001g0005 a0001c0002t0001g0018 a0001c0002t0001g0050 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0097 a0001c0002t0001g0124 a0001c0002t0001g0152 a0001c0002t0001g0189 a0001c0002t0001g0209 a0001c0002t0001g0214 a0001c0002t0001g0237 a0001c0002t0001g0249 a0001c0002t0001g0266 a0001c0002t0001g0269 a0001c0002t0001g0286 a0001c0002t0002g0020 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0165 a0001c0002t0002g0196 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0208 a0001c0002t0002g0215 a0001c0002t0002g0252 a0001c0002t0002g0273 a0001c0002t0002g0290 a0001c0002t0003g0263 a0001c0002t0005g0270 a0001c0002t0009g0217 a0001c0005t0001g0048 a0001c0005t0001g0058 a0001c0005t0001g0059 a0001c0005t0001g0063 a0001c0005t0001g0166 a0001c0005t0001g0171 a0001c0005t0001g0226 a0001c0005t0001g0267 a0001c0005t0002g0161 a0001c0008t0001g0184 a0001c0008t0002g0292 a0001c0014t0001g0109 a0001c0014t0001g0145 a0001c0014t0006g0355 a0001c0019t0001g0056 a0001c0025t0001g0293 a0001c0026t0003g0206 a0001c0035t0001g0309 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0037 a0002c0003t0001g0042 a0002c0003t0001g0051 a0002c0003t0001g0054 a0002c0003t0001g0083 a0002c0003t0001g0089 a0002c0003t0001g0095 a0002c0003t0001g0102 a0002c0003t0001g0113 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0284 a0002c0003t0001g0321 a0002c0003t0001g0327 a0002c0003t0001g0334 a0002c0003t0002g0010 a0002c0003t0002g0110 a0002c0003t0002g0175 a0002c0003t0002g0276 a0002c0003t0002g0324 a0002c0003t0005g0031 a0002c0003t0008g0002 a0002c0004t0001g0046 a0002c0004t0001g0055 a0002c0004t0001g0065 a0002c0004t0001g0078 a0002c0004t0001g0081 a0002c0004t0001g0096 a0002c0004t0001g0111 a0002c0004t0001g0116 a0002c0004t0001g0125 a0002c0004t0001g0126 a0002c0004t0001g0190 a0002c0004t0001g0194 a0002c0004t0001g0195 a0002c0004t0001g0248 a0002c0004t0001g0250 a0002c0004t0001g0280 a0002c0004t0001g0281 a0002c0004t0001g0283 a0002c0004t0001g0291 a0002c0004t0001g0312 a0002c0004t0001g0314 a0002c0004t0001g0315 a0002c0004t0002g0127 a0002c0004t0002g0301 a0002c0006t0001g0045 a0002c0006t0001g0087 a0002c0006t0001g0099 a0002c0006t0003g0239 a0002c0006t0006g0359 a0002c0010t0001g0091 a0002c0010t0001g0136 a0003c0007t0001g0071 a0003c0007t0001g0114 a0003c0007t0001g0139 a0003c0007t0001g0153 a0003c0007t0001g0223 a0003c0007t0001g0261 a0003c0007t0001g0274 a0003c0007t0001g0275 a0003c0007t0001g0277 a0003c0007t0002g0076 a0003c0007t0002g0230 a0003c0007t0002g0236 a0003c0007t0004g0074 a0003c0007t0004g0075 a0003c0007t0004g0092 a0003c0007t0004g0297 a0003c0009t0002g0202 a0003c0011t0001g0310 a0003c0011t0002g0007 a0003c0011t0002g0008 a0003c0011t0002g0199 a0003c0011t0005g0285 a0004c0012t0001g0003 a0004c0012t0001g0272 a0004c0012t0001g0279 a0004c0012t0001g0300 a0004c0013t0001g0069 a0004c0013t0001g0070 a0005c0018t0001g0107 a0005c0018t0001g0335 a0006c0024t0001g0154 a0006c0030t0001g0019 a0007c0034t0001g0200 a0008c0022t0001g0264 a0010c0031t0001g0317 a0011c0032t0001g0156	208	360	0.5778	-767	c.135 others(19): Show c.1353+8583_1353+9349del	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	14/15			chr7	TogoVar
TDRD5_chr1_179586832_179696272	179638157	ATGTTTTC others(760): Show ATGTTTTCTCTTATTCTGGGGAAGCACTGATGGTTTTAAGAAAGCCATTG GAGTGAAGGGATGAAGATCTATTAGTGGACTAGTCTTGATGAGAGTGAGA CTAGAAAGGAAGAGATAAATTGGGAAAATGAAAATTGCCAGGTGACAAGA AGGGTGTTGAGAAGAATAAGAAAGAGAAGGAGATGATGAAAACTGTTTGC TTTAGAGACTGGGCAGGTTTGAGCTGGGGTGAAAACTTATTAGTAGAAGT TCACCTGTAGTGTCTCTAAGTTGACCATGAGAGTCACTGGCAATGTTGAC TAGATGGTATGAGTTAGGATTAGGTTTAGCCACTGTTAGATATAACTTTA TCATAGTAGCTTAAAGAAGATAAAAGTTTATTTCTTCTTCCCAGAATAGT CCAAATATACACAATACATTCTGATATGATAGTTCCGTGGTGGGAGGGGG ACACAGTTATAGAATCTTGCTGCTCCAGAATAGTGTGTTGTCCCTGTTCA CGTGGTCTTGGGTGTGGCTGACCACTACCACCACCCAGTCATCCTGCCAG CTACTGGGAAGGGGAAAAAGAAGTGGGGGATGGGAGATATACCTGTTCTA TTGAAAGACACAACCCAGAATTTTCACTCTTAAAACTGTGGGTAAAATAC ACATTAAATATATTCATTTTAACTATGTACACTTTTTCTTGTATCCCACT GGCCAAAATTTAGTATTCACATAGCCACACCTAGATGCAGGAGAGCTTGG GAAACCTGAATGACCATT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(130): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02735.hp2 HG02818.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03688.hp1 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18987.hp1 NA18990.hp1 NA18992.hp1 NA18995.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19011.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp2 NA19068.hp2 NA19072.hp1 NA19074.hp1 NA19075.hp1 NA19076.hp2 NA19088.hp2 NA19090.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0010	a0001c0001 a0001c0023 a0002c0002 others(2): Show a0001c0001 a0001c0023 a0002c0002 a0006c0009 a0010c0015	a0001c0001t0001 a0001c0001t0002 a0001c0023t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0023t0001 a0002c0002t0001 a0002c0002t0002 a0006c0009t0001 a0010c0015t0002	a0001c0001t0001g0023 a0001c0001t0001g0087 a0001c0001t0001g0088 others(125): Show a0001c0001t0001g0023 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0102 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0264 a0001c0001t0001g0294 a0001c0001t0002g0096 a0001c0023t0001g0203 a0002c0002t0001g0177 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0178 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0006c0009t0001g0089 a0006c0009t0001g0238 a0006c0009t0001g0239 a0006c0009t0001g0371 a0006c0009t0001g0372 a0010c0015t0002g0004	133	382	0.3482	-767	c.152 others(18): Show c.1521-1680_1521-914del	TDRD5	ENSG00000162782.16	transcript	ENST00000444136.6	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACVR1B_chr12_51946699_52002078	52001263	AGGAGGCT others(759): Show AGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAG TGAGCCAAGATCATGCCAGTGCACTCCAGCCTGGGTGACAGAGTGAGACA CAATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTAAAAAGTTCCTT GGATTGGGTGATATGGATTGAGTAATTTATAAACAATATAAATGTAATGC TCACAGTTCTCGAGGCTGGGAAGTCCCAGATCGAGGGATCAACAGGTTCA GTGTCTGGTGAGGGCCTGTTCTCCTAGATGGCGCTTTCTGTGTCTTCACA TGGTGCAAGGGGGAAACAGGCTCCCTCAAGCCTCTTTTATAAGGGCATTA ATTCCATCCATGAGGGCAGAGCCCTCGTGACCTAATCACTCCCTAAAGAT CCCATGTCTCAATACTATCACATTGGGTATTAGGTTCCAACATAGGAATT TTGGAGGGACACCATCATTCAGACCATGGTAGAGCGTTTTAAGCAAGGGA GTGATGTGATCCTGCTTGTGTTTTGGGAAAATCACAGTGCTGACTTTAGA AAGGAATTGTACTGGTGGCAGAGTAAGAAAAGCTGGGAAGGGGCGGGGCG CGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGG ATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTC ACCTCTACTAAAAATACAAAAAATTTTGCCAGACGTGATGGCACACGCCT ATAATCCCAGCTACTTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG03704.hp1 HG04115.hp2 others(5): Show HG02165.hp2 HG03704.hp1 HG04115.hp2 NA18970.hp1 NA18986.hp2 NA18992.hp2 NA19010.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0100 a0001c0001t0002g0142 a0001c0001t0003g0005 others(3): Show a0001c0001t0002g0100 a0001c0001t0002g0142 a0001c0001t0003g0005 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145	8	324	0.0247	-766	c.71 others(11): Show c.7154_*7919del	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding		4186		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	52001284	TGCTTGAA others(759): Show TGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCAGTG CACTCCAGCCTGGGTGACAGAGTGAGACACAATCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAGTTAAAAAGTTCCTTGGATTGGGTGATATGGATTGA GTAATTTATAAACAATATAAATGTAATGCTCACAGTTCTCGAGGCTGGGA AGTCCCAGATCGAGGGATCAACAGGTTCAGTGTCTGGTGAGGGCCTGTTC TCCTAGATGGCGCTTTCTGTGTCTTCACATGGTGCAAGGGGGAAACAGGC TCCCTCAAGCCTCTTTTATAAGGGCATTAATTCCATCCATGAGGGCAGAG CCCTCGTGACCTAATCACTCCCTAAAGATCCCATGTCTCAATACTATCAC ATTGGGTATTAGGTTCCAACATAGGAATTTTGGAGGGACACCATCATTCA GACCATGGTAGAGCGTTTTAAGCAAGGGAGTGATGTGATCCTGCTTGTGT TTTGGGAAAATCACAGTGCTGACTTTAGAAAGGAATTGTACTGGTGGCAG AGTAAGAAAAGCTGGGAAGGGGCGGGGCGCGGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACAGTGAAACCTCACCTCTACTAAAAATACAAAA AATTTTGCCAGACGTGATGGCACACGCCTATAATCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00438.hp2 others(126): Show HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01993.hp2 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02280.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18995.hp1 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19081.hp1 NA19083.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0026 a0001c0001t0029 a0001c0001t0031 a0001c0003t0002 a0001c0004t0013 a0001c0007t0002	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0229 others(111): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0229 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0125 a0001c0001t0002g0151 a0001c0001t0002g0259 a0001c0001t0003g0014 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0171 a0001c0001t0005g0002 a0001c0001t0005g0007 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0103 a0001c0001t0007g0013 a0001c0001t0007g0115 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0124 a0001c0001t0007g0128 a0001c0001t0007g0257 a0001c0001t0007g0258 a0001c0001t0010g0054 a0001c0001t0010g0066 a0001c0001t0010g0067 a0001c0001t0010g0068 a0001c0001t0010g0069 a0001c0001t0010g0073 a0001c0001t0011g0140 a0001c0001t0011g0146 a0001c0001t0011g0147 a0001c0001t0018g0113 a0001c0001t0018g0114 a0001c0001t0019g0075 a0001c0001t0022g0273 a0001c0001t0026g0278 a0001c0001t0029g0271 a0001c0001t0031g0044 a0001c0003t0002g0012 a0001c0004t0013g0028 a0001c0004t0013g0261 a0001c0007t0002g0079	129	324	0.3982	-766	c.71 others(11): Show c.7175_*7940del	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding		4207		chr12	TogoVar
BTNL2_chr6_32388339_32412181	32410110	TAAAAACA others(759): Show TAAAAACAGCTATAGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATT GTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCGAAAATTT TCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCT GTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTT TGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCCCACGCCTA TGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTA GGTTTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTTTGTATAAGG TGTAAGGAAGGGATAGACTGGATTAAGAAAATGTGGCACATATACACCAT GGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGA CATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAA AAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAG ATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGG GTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGAT GACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAA AAAAAAAAATTAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp1 others(286): Show HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0012 a0017	a0001c0001 a0001c0005 a0002c0002 others(11): Show a0001c0001 a0001c0005 a0002c0002 a0003c0004 a0003c0008 a0003c0021 a0004c0003 a0005c0006 a0006c0007 a0007c0009 a0008c0011 a0010c0013 a0012c0015 a0017c0014	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(11): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0003c0004t0002 a0003c0008t0001 a0003c0021t0002 a0004c0003t0003 a0005c0006t0002 a0006c0007t0001 a0007c0009t0001 a0008c0011t0004 a0010c0013t0001 a0012c0015t0001 a0017c0014t0001	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 others(114): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0005t0001g0131 a0002c0002t0001g0002 a0002c0002t0001g0011 a0002c0002t0001g0016 a0002c0002t0001g0022 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0003c0004t0002g0044 a0003c0004t0002g0077 a0003c0004t0002g0078 a0003c0004t0002g0079 a0003c0004t0002g0080 a0003c0004t0002g0081 a0003c0004t0002g0082 a0003c0004t0002g0083 a0003c0008t0001g0006 a0003c0008t0001g0024 a0003c0008t0001g0122 a0003c0008t0001g0123 a0003c0008t0001g0124 a0003c0008t0001g0125 a0003c0008t0001g0126 a0003c0021t0002g0198 a0004c0003t0003g0001 a0004c0003t0003g0015 a0004c0003t0003g0042 a0004c0003t0003g0067 a0004c0003t0003g0068 a0004c0003t0003g0178 a0004c0003t0003g0179 a0004c0003t0003g0180 a0004c0003t0003g0181 a0004c0003t0003g0182 a0004c0003t0003g0183 a0004c0003t0003g0184 a0004c0003t0003g0185 a0005c0006t0002g0008 a0005c0006t0002g0027 a0005c0006t0002g0062 a0005c0006t0002g0063 a0005c0006t0002g0134 a0005c0006t0002g0141 a0005c0006t0002g0142 a0005c0006t0002g0143 a0005c0006t0002g0144 a0005c0006t0002g0145 a0006c0007t0001g0005 a0006c0007t0001g0025 a0006c0007t0001g0055 a0006c0007t0001g0127 a0007c0009t0001g0004 a0007c0009t0001g0135 a0008c0011t0004g0043 a0008c0011t0004g0186 a0008c0011t0004g0187 a0010c0013t0001g0129 a0012c0015t0001g0148 a0017c0014t0001g0090	289	453	0.6380	-766	c.-37 others(11): Show c.-3753_-2988del	BTNL2	ENSG00000204290.11	transcript	ENST00000454136.8	protein_coding		2930		chr6	TogoVar
DACT2_chr6_168301904_168324777	168316238	CCAGCATC others(759): Show CCAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGC TGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGC AAACACACAACAGCATCTCAGCAGCACCTCCCTTCCCATGTGTGTAACAC GTCTGTGGCTGTCGTGTGCTGAGCTGAGGGCACGCAGAAGCTGCGATTGT GTCTGGTGCAAACACACAACAGCATCTCAGCAGCACCTCCCTTCCCATCA CGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGA AGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCT CCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGG TCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCG GCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCT GAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAAC AGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTG TCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAA ACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGT CTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGT CTGGTGCAAACACACAA	C C	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18972.hp1 NA18973.hp2 others(1): Show NA18954.hp1 NA18972.hp1 NA18973.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0036 a0001c0001 a0001c0036	a0001c0001t0001 a0001c0036t0002 a0001c0001t0001 a0001c0036t0002	a0001c0001t0001g0054 a0001c0001t0001g0193 a0001c0036t0002g0154 a0001c0001t0001g0054 a0001c0001t0001g0193 a0001c0036t0002g0154	4	476	0.0084	-766	c.246 others(17): Show c.246+2384_246+3149del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
GRIN3A_chr9_101564352_101743647	101681679	TGAATATA others(759): Show TGAATATATCCCTATTCTTTTTTTTTTTTTTTTTTTATTATACTCTAAGT TTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGT GCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATA TCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAG AGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTGCAATTCCC ACCTATGAGTGAGAATATGCAGTGTTTGGTTTTTTGTTCTTGCGATAGTT TACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATG AACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCA CATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAG TCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCT TTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGAT GGCTGGGTCAAGTGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACA CTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAA AGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTT TTTAATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATAGTGGTTT TGATTTGCATTTCTCTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(254): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp2 NA18993.hp2 NA18995.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0018 a0019 a0020	a0001c0001 a0001c0014 a0001c0015 others(35): Show a0001c0001 a0001c0014 a0001c0015 a0001c0024 a0001c0040 a0001c0042 a0001c0047 a0002c0002 a0002c0005 a0002c0022 a0003c0009 a0003c0010 a0003c0012 a0003c0016 a0003c0032 a0004c0018 a0004c0025 a0005c0008 a0005c0019 a0005c0035 a0005c0037 a0005c0038 a0005c0039 a0006c0004 a0007c0006 a0007c0023 a0008c0011 a0009c0017 a0010c0027 a0011c0026 a0012c0050 a0013c0046 a0014c0036 a0015c0034 a0016c0033 a0018c0044 a0019c0043 a0020c0045	a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 others(77): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 a0001c0001t0019 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0043 a0001c0001t0047 a0001c0001t0053 a0001c0014t0007 a0001c0014t0008 a0001c0014t0011 a0001c0014t0026 a0001c0014t0028 a0001c0015t0009 a0001c0015t0030 a0001c0015t0033 a0001c0015t0036 a0001c0024t0017 a0001c0040t0009 a0001c0042t0055 a0001c0047t0009 a0002c0002t0001 a0002c0002t0005 a0002c0002t0008 a0002c0002t0011 a0002c0002t0021 a0002c0002t0022 a0002c0002t0051 a0002c0002t0052 a0002c0002t0054 a0002c0005t0006 a0002c0005t0008 a0002c0005t0018 a0002c0005t0029 a0002c0005t0044 a0002c0022t0008 a0002c0022t0039 a0003c0009t0006 a0003c0010t0003 a0003c0012t0004 a0003c0012t0015 a0003c0016t0016 a0003c0032t0004 a0004c0018t0010 a0004c0025t0010 a0005c0008t0002 a0005c0008t0014 a0005c0008t0057 a0005c0019t0002 a0005c0019t0020 a0005c0035t0040 a0005c0037t0014 a0005c0038t0002 a0005c0039t0012 a0006c0004t0004 a0006c0004t0008 a0006c0004t0024 a0006c0004t0025 a0006c0004t0027 a0006c0004t0037 a0007c0006t0003 a0007c0023t0003 a0007c0023t0048 a0008c0011t0002 a0009c0017t0002 a0009c0017t0014 a0010c0027t0001 a0010c0027t0009 a0011c0026t0013 a0012c0050t0001 a0013c0046t0001 a0014c0036t0056 a0015c0034t0003 a0016c0033t0038 a0018c0044t0002 a0019c0043t0008 a0020c0045t0003	a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 others(252): Show a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0009g0190 a0001c0001t0009g0198 a0001c0001t0009g0200 a0001c0001t0009g0214 a0001c0001t0009g0216 a0001c0001t0013g0180 a0001c0001t0013g0183 a0001c0001t0013g0184 a0001c0001t0019g0146 a0001c0001t0019g0147 a0001c0001t0031g0219 a0001c0001t0032g0194 a0001c0001t0034g0192 a0001c0001t0035g0220 a0001c0001t0043g0274 a0001c0001t0047g0285 a0001c0001t0053g0291 a0001c0014t0007g0270 a0001c0014t0008g0006 a0001c0014t0011g0267 a0001c0014t0026g0027 a0001c0014t0028g0026 a0001c0015t0009g0157 a0001c0015t0009g0158 a0001c0015t0030g0191 a0001c0015t0033g0213 a0001c0015t0036g0217 a0001c0024t0017g0047 a0001c0024t0017g0048 a0001c0040t0009g0207 a0001c0042t0055g0320 a0001c0047t0009g0230 a0002c0002t0001g0141 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0186 a0002c0002t0005g0287 a0002c0002t0005g0288 a0002c0002t0005g0289 a0002c0002t0005g0290 a0002c0002t0005g0292 a0002c0002t0005g0294 a0002c0002t0005g0299 a0002c0002t0005g0303 a0002c0002t0005g0304 a0002c0002t0005g0305 a0002c0002t0005g0306 a0002c0002t0005g0307 a0002c0002t0005g0308 a0002c0002t0005g0309 a0002c0002t0005g0310 a0002c0002t0005g0311 a0002c0002t0005g0313 a0002c0002t0005g0314 a0002c0002t0005g0315 a0002c0002t0005g0316 a0002c0002t0005g0317 a0002c0002t0005g0318 a0002c0002t0005g0319 a0002c0002t0008g0044 a0002c0002t0011g0280 a0002c0002t0011g0281 a0002c0002t0011g0282 a0002c0002t0011g0284 a0002c0002t0021g0279 a0002c0002t0021g0283 a0002c0002t0022g0286 a0002c0002t0022g0300 a0002c0002t0051g0302 a0002c0002t0052g0293 a0002c0002t0054g0312 a0002c0005t0006g0032 a0002c0005t0006g0033 a0002c0005t0006g0034 a0002c0005t0006g0035 a0002c0005t0006g0036 a0002c0005t0006g0037 a0002c0005t0006g0039 a0002c0005t0006g0040 a0002c0005t0008g0041 a0002c0005t0008g0042 a0002c0005t0008g0043 a0002c0005t0008g0045 a0002c0005t0018g0046 a0002c0005t0029g0140 a0002c0005t0044g0276 a0002c0022t0008g0023 a0002c0022t0039g0234 a0003c0009t0006g0001 a0003c0009t0006g0055 a0003c0009t0006g0062 a0003c0009t0006g0063 a0003c0009t0006g0064 a0003c0009t0006g0065 a0003c0009t0006g0087 a0003c0009t0006g0088 a0003c0009t0006g0089 a0003c0009t0006g0090 a0003c0010t0003g0057 a0003c0010t0003g0095 a0003c0010t0003g0096 a0003c0010t0003g0097 a0003c0010t0003g0098 a0003c0010t0003g0099 a0003c0010t0003g0100 a0003c0010t0003g0101 a0003c0010t0003g0102 a0003c0012t0004g0060 a0003c0012t0004g0066 a0003c0012t0004g0071 a0003c0012t0004g0080 a0003c0012t0004g0082 a0003c0012t0004g0083 a0003c0012t0004g0084 a0003c0012t0015g0085 a0003c0016t0016g0028 a0003c0016t0016g0029 a0003c0016t0016g0030 a0003c0016t0016g0031 a0003c0032t0004g0025 a0004c0018t0010g0142 a0004c0018t0010g0169 a0004c0018t0010g0187 a0004c0018t0010g0189 a0004c0025t0010g0224 a0004c0025t0010g0225 a0005c0008t0002g0105 a0005c0008t0002g0106 a0005c0008t0002g0107 a0005c0008t0002g0108 a0005c0008t0002g0109 a0005c0008t0002g0110 a0005c0008t0002g0111 a0005c0008t0002g0112 a0005c0008t0002g0113 a0005c0008t0002g0135 a0005c0008t0002g0136 a0005c0008t0002g0137 a0005c0008t0014g0296 a0005c0008t0057g0321 a0005c0019t0002g0004 a0005c0019t0020g0232 a0005c0019t0020g0233 a0005c0035t0040g0235 a0005c0037t0014g0295 a0005c0038t0002g0038 a0005c0039t0012g0273 a0006c0004t0004g0002 a0006c0004t0004g0117 a0006c0004t0004g0120 a0006c0004t0004g0122 a0006c0004t0004g0123 a0006c0004t0004g0124 a0006c0004t0004g0125 a0006c0004t0004g0126 a0006c0004t0004g0129 a0006c0004t0004g0130 a0006c0004t0004g0131 a0006c0004t0004g0132 a0006c0004t0004g0133 a0006c0004t0004g0134 a0006c0004t0008g0114 a0006c0004t0008g0115 a0006c0004t0024g0103 a0006c0004t0025g0121 a0006c0004t0027g0104 a0006c0004t0037g0205 a0007c0006t0003g0049 a0007c0006t0003g0050 a0007c0006t0003g0052 a0007c0006t0003g0053 a0007c0006t0003g0056 a0007c0006t0003g0068 a0007c0006t0003g0070 a0007c0006t0003g0072 a0007c0006t0003g0073 a0007c0006t0003g0074 a0007c0006t0003g0075 a0007c0006t0003g0076 a0007c0006t0003g0077 a0007c0006t0003g0081 a0007c0006t0003g0092 a0007c0023t0003g0007 a0007c0023t0048g0245 a0008c0011t0002g0058 a0008c0011t0002g0059 a0008c0011t0002g0061 a0008c0011t0002g0067 a0008c0011t0002g0069 a0008c0011t0002g0078 a0008c0011t0002g0086 a0008c0011t0002g0091 a0008c0011t0002g0093 a0009c0017t0002g0116 a0009c0017t0014g0297 a0009c0017t0014g0298 a0009c0017t0014g0301 a0010c0027t0001g0167 a0010c0027t0009g0166 a0011c0026t0013g0181 a0011c0026t0013g0185 a0012c0050t0001g0231 a0013c0046t0001g0218 a0014c0036t0056g0322 a0015c0034t0003g0127 a0016c0033t0038g0204 a0018c0044t0002g0051 a0019c0043t0008g0094 a0020c0045t0003g0079	257	324	0.7932	-766	c.130 others(19): Show c.1304+4151_1304+4916del	GRIN3A	ENSG00000198785.7	transcript	ENST00000361820.6	protein_coding	2/8			chr9	TogoVar
RBFOX2_chr22_35733736_36033824	35737460	GAGTGAGA others(759): Show GAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAG TACAAGGAATAACTTGAGATTTTCCAATTTTTTTTTTAACTTAAGATCTA AGCACGCTTAAGTGCCAAAGGGACTATTGAGAGGAAGAGGCAAACCAGGC AAGGGAGGAAACTGAAGCAAAGCACCGAGCAGGTGGGAAAGGCTGGGATG CAGAGCACAGGTGTGGGGTTCACGGTGATGTGAAGAATGCCTCTAATAGA ACGAGAGAGAAGGGGAAAGACACCCTGTGTGGAATTCAAGTAGGCTTGTA GATCTGGTAGGGAAACTTCATTCAGGGAGACTATGTCTGACAACCTCCAT ATTCTGTGAAATAGGAAGCATGATGATCTCATATGGTGAAGTGAAGGGAG TTAGAGATTTATGGATTATGGAGAATTTCAGAGATTTGGGAATTATTGGC TGAGAAACGAAACAAATGCAGCAAGGGATGGGTTTCAGCACAGGTAAGAA AGAAAAGAGGCCAGGTGTGCTGGCTCATGCCTGTAATGCCAGCACTTTGG GAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTG GGCAACACAGTGTAGCCCCATCTCTACAAAAAATGTTGCCGGGTGTGGTG GCGTGCACCTGTAGTTCCAGCTTCTCGGGAGGCTGAGGTGGGAGGATCAC TTGAGCCCAGGAGTTTGAGGCTACAGTGAGCCTTGATCACACCACTGCAC TCCAGCCTGGGCGACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG02602.hp1 HG01516.hp2 HG01517.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0076 a0001c0001t0001g0103 a0001c0001t0001g0104	3	120	0.0250	-766	c.59 others(11): Show c.5979_*6744del	RBFOX2	ENSG00000100320.24	transcript	ENST00000695854.1	protein_coding		1275		chr22	TogoVar
ZNF516_chr18_76352682_76500242	76393419	GAAGGCAG others(759): Show GAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGG GCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAG GTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG GAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAG GGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0247 a0001c0001t0007g0247	1	346	0.0029	-766	c.181 others(21): Show c.1811-13882_1811-13117del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF528_chr19_52392849_52423401	52393337	GGCTGGGA others(759): Show GGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCTAAATCCTGTTAGT TTTGAATGGAAATTTTCTTTCTTTCTTTTTTTTTTTTCTGGGACAGATTC TTGCTTCGAGACAATGACAAATACAAACTAGGTTTACTGTAAATATGAGA AAGGGAAAAAATACTTTTATTGTATTAGAAGACTTGAAATCACATGAAGT GATACCAATCTTTTGTTGTTGTTGGTCAGATGTTTTAGCTATTTTAGGTG TTTGGGTTTTTTGTCTTTCTACATAACTGCTAACCTTGTTAGTATCTGCA GAATGCCTTAATTAGGAAAGGTATTAACCCTATGTGTCAGATTTGTATAA TTCATATTGCTTTACATGGAGTCTTCCAATAAATGTATATGGTATATGTC TCTATTTGCTGTCTTTGATTTCTTTTATCAGCATTTGGTAGTTGTAACAT AACAGTTCTATGAATGTTTTGTTTCACATGTATTTCTTTGCCCCCCCCCT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCTGAGTTCA CGCCATTCTCCTGCCTCGGCCTCCCCAGTAGCTGGGACTACAGGCACCCG CCACCACACCTGGCTAATTTTTTTGTATTTTCTTAGTAGAGATGGGGTTT CACCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTAGTCCACCTG CCTTGGCCTCCCAAAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 NA19067.hp1 NA19080.hp2 HG02148.hp2 NA19067.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0121 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0121	3	476	0.0063	-766	c.-49 others(11): Show c.-4956_-4191del	ZNF528	ENSG00000167555.14	transcript	ENST00000360465.8	protein_coding		4511		chr19	TogoVar
ARHGAP39_chr8_144524179_144690846	144624966	GGCGGCCC others(758): Show GGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCATCCCCTGTCC CGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTC CCGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGT CCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTG TCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCT GTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCC TGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCC CTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCC CCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGC CCCTGTCCCGGCGGCCCGGTTCACGGAGCACTCACTGCACACTGCGGCAT CCCCTGTCCCCGCGGCCCCGTTCACGGAGCACTCACTGCACACTGCGGCA GCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGC AGCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGG CAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACTCACTGCACACTGCG GCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGC GGCAGCCCCTGTCCCC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	246	0.0041	-765	c.-81 others(19): Show c.-81-20036_-81-19272del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1888923	GGGGTGAG others(758): Show GGGGTGAGGGGTCTGTGACGAGACACTGAGTGGGGTGAGGGGTCTGCGAG GAGACACTGAGGTGTGAGGGGTCTACAAGGAGTCACGGAGTGCAGTGAGA GTTGTGAGGAAACATGGAGTGGGGTGCGGGTCATGAGGAGACAGTGATTG GGGTGAGGGGTCCGTGAGGAGACACTGAGTGGGGTGTGAGGGGTCTGTGA GGAGACACTGTGAGTGGGGTGAGGGTTGTGAGGAGACGCTGAGTTGGGGG GTTGTGAGGAGAGCGTGGGGTGAGGTTTATTAGGAGACACTGAATGGGGT GAGGGTTGTGAGGAGACATTGAGTGGGATGAGAGGTGTGAGGAGACACTG AATGTGGTGAGGGTTTGTGAGGAGATACTGCATGGGGTGAGCTTTCTTAG GAGACACTGAGTGGGTAAGAGTTGTGAGGAGACACTGAGTGGGGTGAGGG GTATGTGAGGAGACAGTGATGTGAGGCATCTGTGAGGAGACACTGAGTGG GGTGAGGGGTCTGTGAGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGGA GACACTGAGTGGGGTGAGGGGTCTGTGAGGAGACACTGAGTGGGGTGAGG GGTATTGAGGAGACACTGAGTAGGGTAAGGAGTCTGTGTGGAGACACTGA GTGGGGTGAGGGGTTTGTGAGGAGACACTGAGTGTGGGTGAGGGGTCTGT GAGGAGTCATGGAGTGTGGTGTGAGTTGTGAGAAAACTCGGAGTGGGGTG AGGGTCGTGAGGAAAC	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0145 a0001c0001t0043g0145	1	363	0.0028	-765	c.118 others(19): Show c.1182+3217_1183-3881del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28			chr8	TogoVar
CROCC2_chr2_240901336_240998311	240979545	AGGAGCCC others(758): Show AGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAG CCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAG GCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCA TCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCT GCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCA GTCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTC TGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGG TAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCCGTCTCTGGGGTAGGA GCCTCAGGATCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTC AGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAT CCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAG GCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCA TCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCT GCTCAAGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCA GTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTC TGGGGTAGGAGCCTCT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03704.hp2 others(1): Show HG03490.hp2 HG03492.hp1 HG03704.hp2 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0001g0057 a0002c0002t0002g0301 a0002c0002t0002g0302 others(1): Show a0002c0002t0001g0057 a0002c0002t0002g0301 a0002c0002t0002g0302 a0003c0003t0001g0033	4	350	0.0114	-765	c.440 others(19): Show c.4402-3310_4402-2546del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCAKD_chr17_45018344_45056632	45027932	GCTGAGAT others(758): Show GCTGAGATCGCGCCACTGTACTCCACCTTGGGTGACAGAGTGAGACTCCA TCTCAATTTAAAAAAAAAAAAAAAAAGCAAAGCACAGGAAGGACAAATGG CCAGAGGTGGGCGCGGGGTCATCTGGTGAATGCACATGCAGGTGTCGGCC CCTGCTGTCTTCTCATCTACACTCTAAGATCCTTTTTTTTTTTTTGAGAT GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCT CACTCCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGTCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCACCATGATGCCCAGCTAATTTTTT TTGTATTTTTAGTAGAGACAGGGTTTAACCGTGTTAGCCAGGATGGTCGC GATCTTCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGA TTACAGGTATGAGCCACCACACCCGGCCTTTTTTTTTTTTTTTTTGAGAC GGAGTTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGTACGATCTTGGC TCATTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTT GTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCATGCCGCTCTCGA ACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGA TTATAGGCATGAGCCA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0338 a0001c0001t0019g0338	1	408	0.0025	-765	c.404 others(17): Show c.404+1395_404+2159del	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding	4/4			chr17	TogoVar
DGKB_chr7_14140049_14907751	14211663	TTTACTCT others(758): Show TTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCT CATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTT TTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGAT TTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCT CATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTT GTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTT TACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCT CATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTT TTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATT TTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTC ATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTT GTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTT ACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCAT GTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGT GATTTTACTCTCGTGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTA CTCTCGTGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0065 a0001c0002t0002g0065	1	148	0.0068	-765	c.212 others(21): Show c.2123-34277_2123-33513del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
GAL3ST2_chr2_241771822_241809287	241806652	CCCCTCAG others(758): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC CCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGG GAAGAGCACCTTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0110 a0002c0002t0002g0110	1	314	0.0032	-765	c.24 others(11): Show c.2487_*3251del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2366		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132231348	CCCCTAGT others(758): Show CCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTA CTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACA CTCGATGGGGTGACAGGGACAGCGTGGAGCCCCTAGTGCTACACACTCGA TGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATG GGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGG GCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGC GACAGAGGAGACAGCATGGAGTCCCTAGTGCCACACACTCGATGGGGCGA CAGAGGAGACAGTGTGGAGTCCCTACTGCCACACACTCGATGGGGCGACA GAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGCGTGGAGT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	183	0.0055	-765	c.107 others(21): Show c.1077+15797_1077+16561del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
NEU4_chr2_241804193_241822413	241806652	CCCCTCAG others(758): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC CCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGG GAAGAGCACCTTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0181 a0001c0001t0003g0181	1	319	0.0031	-765	c.-26 others(11): Show c.-2625_-1861del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2540		chr2	TogoVar
DPH7_chr9_137549444_137583925	137565720	ACTCTGTC others(757): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp1 HG01257.hp2 others(3): Show HG01081.hp1 HG01106.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0272 a0001c0001t0002g0001 a0001c0001t0002g0272	6	340	0.0177	-764	c.641 others(16): Show c.641-1330_641-567del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566806	GGGGTGAC others(757): Show GGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	2	340	0.0059	-764	c.641 others(17): Show c.641-2416_641-1653del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
GAL3ST2_chr2_241771822_241809287	241806648	CTCCCCCC others(757): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTC CCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGAC CCGGGAAGAGCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	314	0.0032	-764	c.24 others(11): Show c.2483_*3246del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2362		chr2	TogoVar
LRRC24_chr8_144517388_144532033	144531269	GGGCTAGA others(757): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGG CAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACA TAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTG GGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGG TGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGG AGCAGCAGGTGGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0023 a0001c0003t0001g0023	1	398	0.0025	-764	c.-51 others(11): Show c.-5133_-4370del	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4237		chr8	TogoVar
PRPF6_chr20_63976132_64038100	64012100	CGGCTTCT others(757): Show CGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAG GAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGA GGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACA CCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGA AATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTT GCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCT TCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGT CTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGG ACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTAC GAGAGGAGGACAGGAAGTCTCACGGCTTTCTTTGCTAGTAGAAATGATAC ACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAG AAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTT TGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGC TTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAG TCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAG GACAGGAAGTCTCAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02572.hp1 others(5): Show HG01891.hp2 HG02055.hp1 HG02572.hp1 HG02622.hp1 HG02809.hp1 HG03041.hp1 HG03098.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0220 a0001c0001t0001g0224 others(5): Show a0001c0001t0001g0053 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229	8	294	0.0272	-764	c.152 others(18): Show c.1524+656_1524+1419del	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
RPS19_chr19_41855255_41877925	41866126	GCCTGTAG others(757): Show GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATTGCTTGAAC CTGGGAGGCGGAGCTAGCAGTGAGCCCAGATGGCACCACTGCACTCCAAC CTAGGCAACAGAGAAAGACTCCGTCTCAAAAAAAAAATAAAGCAGGATAA CAGGAAAAGCTATTCTGCGTTCCCCAGTCCTGGGTACTGTAGTTCAAATG GGAGAGCAGGTCTCCACCCAGAGCCCCAGGGCACAACCAGCTACAGGGCC CAGAGGGATGGCAGCAGCTGCTGGGTATTTGAGCTGGTCTGAAAGGGTGG AGGTTTCCAGTGATGTCACTCTCTGGCAGGATTGTGGGGGGTGGCTTACG CCAGGTGAGTCTGTCTATTGGTCCTGGTTATGGGCACTTATTACCAGGCA GTGGCGTAGGGGGTAGGGCCTGGAGTGAGGTGGGGATTTTAAAGTGAGCA GATGCCAGAGGTAGTGAGCCAACAGCAGGGCTGTGCTCTTGGCCCCCAGC AGAGCATGGTTGTATAGTATCAGCTGAGGATTGGTTCCAGGATGAACCCC AATACCCAAGTCCACAGATGCTCACCCTTACTATAAAATGGTGTAATATC GGGGCCAGGGGCCGGGTGCGGTGGCTCAACCCTGTAATCCCAGCACTTTG GGAGGCCAAGGCAGGTGGATTACGAGGTCAGGAGATTGAGACCATCCTCG CTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAG GCGTGGTGGCGGGCC	G G	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	390	0.0026	-764	c.173 others(17): Show c.173-2885_173-2122del	RPS19	ENSG00000105372.8	transcript	ENST00000598742.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
UNC13B_chr9_35157009_35410335	35372599	GGCCCCTG others(757): Show GGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTT AACTCTCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGTGGCT AGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATAC ATGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGA CTTAACTCTCTGTGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGG CTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGAT ACATGGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTC AGACTTAACTCTCTGGGCTTGGCAGATACATGGGCCCTGTGCAAGAGTGT GGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGTGCTTGGCAG ATACATGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCT CAGACTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAG TGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGG CAGATACATGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGC TCTCAGACTTAACTCTCTGTGCTTGGCAGATACATGGGGCCCTGTGCAAG AGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTT GGCAGATACATGGGC	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03834.hp1 HG03688.hp2 HG03834.hp1	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0004 a0014c0014t0004	a0014c0014t0004g0018 a0014c0014t0004g0019 a0014c0014t0004g0018 a0014c0014t0004g0019	2	224	0.0089	-764	c.954 others(19): Show c.9540+2204_9541-1764del	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	13/39			chr9	TogoVar
CCDC200_chr17_43216420_43233623	43232860	GGTCTAGC others(756): Show GGTCTAGCGGTGGCCCCAGTGCCTGGGAAGGCACCCGTTACTTAGCAGAA TTACTACGCAGCCATAAAAAAGGATGAGTTCATGACCTCTGCGGGAACGT GGAGGGAGGAAAAGGCCTCATTCTCAGCAAACTGACACAGGAAGCGAAAA CAAACACCGCATGTTCTCGCTCCTAAGTGGGAGTTGAACAGCGAGAACAC ATGGGACACAGGGAGGGGAACATCACACGCCGGGCCCTGACGGGGCGTGG GGGGCAAGGGGAGAGAGAGCATTAGGACAAATAGCCAACGCATGCGGGGC TTCAAACCTAGACGACTGGTGGATAGGTGCAGCAAAGCACCGTGGCACAC GTGTACCTATGTTCCAAACCTGCACGTCCTGCACATGTACCCCAGAACTT GGGAGGGGGTGGGGGAAACCAAAAGAGCGAGGGAGAGGCGGGGGGGGGGA AGAGAGAGAGAGAGGGAAAGAGAGAGAGAGACAGAGAGAGGAGAGAGAGA GAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGA GACGGAGAGACAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGACAGGAGAAAGAAGAACTCCGGGTGGGTCCCATTCCT TTAAAAGGTCGCCACCCACTCGACTGCCAAGCTGAGATCCTAAGGACCTC CCCAAAGGAGGAGGTCGTGGCCTTCCCAAAGCGCAGTAGCCACGGTGGAA ACGACAGCGTGCCG	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	334	0.0030	-763	c.-50 others(11): Show c.-5069_-4307del	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding		4238		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739450	GGCCTGAT others(756): Show GGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGA TGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGA AGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGTGGCCTGA TGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01070.hp1 HG01074.hp1 others(3): Show HG00733.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01169.hp2 HG01256.hp1	a0003 a0003	a0003c0003 a0003c0006 a0003c0003 a0003c0006	a0003c0003t0001 a0003c0006t0001 a0003c0003t0001 a0003c0006t0001	a0003c0003t0001g0003 a0003c0003t0001g0022 a0003c0003t0001g0150 others(2): Show a0003c0003t0001g0003 a0003c0003t0001g0022 a0003c0003t0001g0150 a0003c0003t0001g0158 a0003c0006t0001g0003	6	445	0.0135	-763	c.-34 others(11): Show c.-3462_-2700del	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3420		chr17	TogoVar
SLC66A2_chr18_79897420_79956653	79920494	GAGGAGAG others(756): Show GAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAG GAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAG AGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTC AGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGA CGGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGG GAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAG GTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAG AGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCG AGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTC AAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGA GGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGAGACAGGA ACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAG GTCAAGCTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAGGTCAGTG GGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACGG GAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAG AGGTCAAGGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02486.hp1 HG02738.hp1 HG01981.hp1 HG02486.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0189 a0001c0001t0005g0212 a0001c0001t0005g0009 a0001c0001t0005g0189 a0001c0001t0005g0212	3	352	0.0085	-763	c.392 others(17): Show c.392-1857_392-1095del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
WDR81_chr17_1719704_1743585	1739450	GGCCTGAT others(756): Show GGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGA TGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGA AGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGTGGCCTGA TGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01255.hp2 HG01256.hp1 others(4): Show HG00733.hp1 HG01255.hp2 HG01256.hp1 HG01516.hp2 HG01517.hp1 HG03491.hp2 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0006 a0001c0003t0001 a0001c0003t0006	a0001c0003t0001g0003 a0001c0003t0001g0092 a0001c0003t0006g0003 others(1): Show a0001c0003t0001g0003 a0001c0003t0001g0092 a0001c0003t0006g0003 a0001c0003t0006g0030	7	431	0.0162	-763	c.17 others(11): Show c.1766_*2528del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		866		chr17	TogoVar
CAMK1D_chr10_12344547_12840545	12775358	AGGTGAGA others(755): Show AGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAA GGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT GAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCT CAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTG AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0078 a0001c0001t0007g0078	1	214	0.0047	-762	c.565 others(17): Show c.565+5561_565+6322del	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPH7_chr9_137549444_137583925	137565837	GTGACTGT others(755): Show GTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTC CCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGT GAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACT CTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCT GGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAA GCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGT CTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGT GACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGC TCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGT GAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACT CTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCC CTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGG AAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCT GTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCG GGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGG AAGCTCCCCTGGA	G G	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	340	0.0029	-762	c.641 others(16): Show c.641-1445_641-684del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
LRFN3_chr19_35931374_35951624	35933831	GACAGAGT others(755): Show GACAGAGTGAGACTCCGTCTCAAAATAAAAATCAGCCAAGCGTGGTGGTG CATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATAGCTTG AACCCAGGAGGTGGAGATTGCAGTGAGCCGAGATCATGCCACTGCACTCC AGCCTGGGCGACAGAGCAGGACTCTGTCTTAAAAAAAAAGAGATGGGGGC TGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGT GGGGGGTATCACCTGAGGTCAGGAGTTCAAGACCAGCCTTGCCAACATGG CGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGTA GGTGCCTGTTATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTG AACCAAGGAGGCAGAGGTTGCAGTGAGCCAAGATTATGCCACTGCACTAC AACCTGGGCAACAAAGTAAGACTCTGTCTAAAAAAATAAATAAATAAATA GGCCGGACACTGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGA GGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGG TGAAACCCTGTCTCTAATAAAAATACCAAAAAAATTAGCTGGGCATGGTG GCAGACGCCTCTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGTGGAGCTTGCGGTGAGCCAAGATCACACCACTGCAC TCCAGCCTGGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	418	0.0024	-762	c.-37 others(11): Show c.-3740_-2979del	LRFN3	ENSG00000126243.9	transcript	ENST00000246529.4	protein_coding		2542		chr19	TogoVar
SLC9A9_chr3_143260222_143853468	143448904	ATATGATA others(755): Show ATATGATATATATTATATATTATAATATATAATATGATATATAATATATA ATATAATTATATAAATATAATTATATAAAAATAATTATAATTATATAATT ATATAAAATATAATTATAATTATATAATTATATAAAATATAATTATATTA TATAATTATATAAATATAATTATAATTATATAATTATATAAAATATAATT ATATATTATAATTATATAATATGATATATATTATATAATTATAATATATA ATATGATATATAATATATAATATAATTATATAAATATAATTATATAAAAA TAATTATAATTATATAATTATATAAAATATAATTATAATTATATTATAAT ATAAAATATAATTATATATTATATATTATATAAAATATAATTATAATTAT ATAATATATAATATAATTATATAAATATAATTATATAAAAATAATTATAA TTATATAATTATATAAAATATAATTATAATTATATAATTATATAAAATAT AATTATATAAAATAATTATATAAAATATAATAATTATATAATTATATAAA ATATAATTATATAAAATAATTATATAAAATATAATAATTATATAATTATA TAAAATATAATAATTATATAATTATATAAAATATAATTATATAAAATAAT TATATAAAATATAATTATAATTATATAATTATATAAAATATAATTATATA AAATATAATAATTATATAATTATATAAAATATAATTATATAATATAATTA TATAAAATATAAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00738.hp1 HG00738.hp2 others(61): Show HG00408.hp1 HG00738.hp1 HG00738.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01358.hp2 HG01496.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp2 NA18522.hp2 NA18906.hp1 NA18950.hp2 NA18955.hp1 NA18966.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19084.hp1 NA19084.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0013 a0001c0014 a0001c0016 a0002c0007 a0002c0011 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0024 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0019 a0001c0002t0023 a0001c0003t0008 a0001c0004t0015 a0001c0005t0006 a0001c0008t0012 a0001c0009t0011 a0001c0013t0004 a0001c0014t0001 a0001c0016t0013 a0002c0007t0002 a0002c0011t0002 a0003c0006t0005	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0019 others(61): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0002g0017 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0078 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0003g0025 a0001c0001t0006g0106 a0001c0001t0007g0058 a0001c0001t0009g0011 a0001c0001t0009g0085 a0001c0001t0010g0020 a0001c0001t0010g0053 a0001c0001t0013g0032 a0001c0001t0015g0105 a0001c0001t0016g0081 a0001c0001t0018g0096 a0001c0001t0024g0103 a0001c0002t0001g0036 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0001g0089 a0001c0002t0003g0005 a0001c0002t0003g0012 a0001c0002t0003g0023 a0001c0002t0003g0038 a0001c0002t0003g0043 a0001c0002t0003g0052 a0001c0002t0003g0067 a0001c0002t0003g0088 a0001c0002t0004g0086 a0001c0002t0005g0013 a0001c0002t0005g0092 a0001c0002t0006g0102 a0001c0002t0008g0080 a0001c0002t0009g0070 a0001c0002t0019g0002 a0001c0002t0023g0107 a0001c0003t0008g0074 a0001c0004t0015g0100 a0001c0005t0006g0099 a0001c0008t0012g0098 a0001c0009t0011g0037 a0001c0013t0004g0079 a0001c0014t0001g0073 a0001c0016t0013g0084 a0002c0007t0002g0018 a0002c0007t0002g0042 a0002c0011t0002g0056 a0003c0006t0005g0008	64	108	0.5926	-762	c.146 others(21): Show c.1469+17371_1469+18132del	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
C7orf50_chr7_992006_1143247	1115763	ACAGCACT others(754): Show ACAGCACTACGGACCGGCTTCCATCACCAACGCCCACGCAGGATGACATC ACTACAGCTCTAGGGATGGCTTCCATCACCGACGCCCACGCAGGATGATG ACATCACTACAGCTCTAGGACCGGCTTCCATCACCAACGCCCACGCAGGA TGACATCACTAAAGCTCTAGGGACGGCTTCCATCACCAAAGCCCACGCAG GATGATGACATCACTGCAGCTCTACGGACCGGCTTCCAGCACCGACGCCC ACGCAGGATGATGACATCACTACAGCTCTACGGACCCGCTTCCATCACCG ACGCCCACGCAGGATGATGACATCACTACAGCTCTAGGGACCGGCTTCCA TCACCAATGCCCATGCAGGATGACATAACTACAGCTCTACGGACCGGCTT CCATCACCAACGCCCACGCAGGATGACATCACTACAGCTCTAGGGACTGG CTTCCATCACCAACGCCCACGCAGGATGACTTCACTACAGCTCTACGGAC CGGCTTCCATCACCAAGGCCCACGCAGGATGACATCACTACAGCTCTACG GACAGGCTTCCATCACCAACGCCCATGCAGGATGATGACATCACTACAGC TCTAGGGACAGCTTCCATCACCGACGCCCACGCAGGATGATGACATGACT GCAGCTCTACGGACCGGCTTCCATCACCGACGTCCACGCAGGATGATGAC ATCACTGCAGTTCTAGGACCAGCTTCCATCACCGACGCCCACGCAGGATG ATGACATCACTG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03516.hp1 HG03130.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0324 a0001c0001t0019g0325 a0001c0001t0019g0324 a0001c0001t0019g0325	2	326	0.0061	-761	c.129 others(19): Show c.129+10733_129+11493del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
EHMT1_chr9_137614005_137841127	137818909	ACCGAGAC others(754): Show ACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTA GAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATT GAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGT GTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCG TAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGA TTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCC GACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAG ACCGTAGAGAGGCCGACTGAGGGGCGCCATGTACCGAGACCGTAGAGAGG CCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTTAGGGG CGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCG AGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGA GGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGG GGGCGCCGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	170	0.0059	-761	c.354 others(18): Show c.3540+779_3540+1539del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
LMF1_chr16_848634_975984	950033	CGACAGAG others(754): Show CGACAGAGTCAGAGCCAACGACAGAGTCAGCCAACGACAGAGTCAGAGAC AACGACAGAGTCAGAGCCAACGACAGAGTCAGAGACGAAAGACTCAGAGC CAATGACAGAGTCAGAGCCAATGACAGAGTCAGCCAACGACAGAGTCAGA GCCAACGACAGAGTCAGCCAATGACAGAGTCAGAGACAGCGACAGAGTTA GAGACAATGACAGAGTCAGCCAACGACAGAGTCAGCCAACGACAGAGTCA GAGACAATGACAAAGTCAGCCAATGACAGAGTCAGAGACAACGACAGAGT CAGCCAACAACAGTCAGCCAACGACAGAGTCAGGCCAACGACAGAGTCAG CCAATGACAGAGTCAGAGCCAACGACAGAGTCAGAGACAACGACAGAGTT AGAGACAACGACAGAGTCAGCCAACGACAGAGTCAGCCAACGACAGAGTC AGAGCCAACGACAGAGTCAGAGATGACAGAGTCAGAGACGACAGAGTCAG AGCCAATGACAGAGTCAGCCAATGACAGAGTCAGAGCCAACGACAGAGTC AGCCAATGACAGAGTCAGAGACAACGACAGAGTTAGAGACAACGACAGAG TCAGCCAAGGACAGAGTCAGCCAACGACAGAATCAGAGACAATGACAGAG TCAGCCAACGACAGAGTCAGAGCCAATGACAGAGTCAGAGCCAACGACAG AGTCAGAGACGACAGAGTCAGAGCCAACGACAGAGTCAGAGCCAACGACA GAGTCAGCCAAT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01993.hp1 HG02148.hp2 others(5): Show HG01123.hp2 HG01993.hp1 HG02148.hp2 HG02280.hp2 NA18946.hp2 NA18948.hp2 NA18967.hp1 NA18982.hp1	a0001 a0002 a0022 a0001 a0002 a0022	a0001c0002 a0001c0013 a0002c0017 others(1): Show a0001c0002 a0001c0013 a0002c0017 a0022c0042	a0001c0002t0001 a0001c0013t0001 a0002c0017t0001 others(1): Show a0001c0002t0001 a0001c0013t0001 a0002c0017t0001 a0022c0042t0001	a0001c0002t0001g0033 a0001c0002t0001g0039 a0001c0002t0001g0040 others(5): Show a0001c0002t0001g0033 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0013t0001g0045 a0001c0013t0001g0046 a0002c0017t0001g0038 a0022c0042t0001g0084	8	294	0.0272	-761	c.503 others(17): Show c.503+3563_503+4323del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	950044	GAGCCAAC others(754): Show GAGCCAACGACAGAGTCAGCCAACGACAGAGTCAGAGACAACGACAGAGT CAGAGCCAACGACAGAGTCAGAGACGAAAGACTCAGAGCCAATGACAGAG TCAGAGCCAATGACAGAGTCAGCCAACGACAGAGTCAGAGCCAACGACAG AGTCAGCCAATGACAGAGTCAGAGACAGCGACAGAGTTAGAGACAATGAC AGAGTCAGCCAACGACAGAGTCAGCCAACGACAGAGTCAGAGACAATGAC AAAGTCAGCCAATGACAGAGTCAGAGACAACGACAGAGTCAGCCAACAAC AGTCAGCCAACGACAGAGTCAGGCCAACGACAGAGTCAGCCAATGACAGA GTCAGAGCCAACGACAGAGTCAGAGACAACGACAGAGTTAGAGACAACGA CAGAGTCAGCCAACGACAGAGTCAGCCAACGACAGAGTCAGAGCCAACGA CAGAGTCAGAGATGACAGAGTCAGAGACGACAGAGTCAGAGCCAATGACA GAGTCAGCCAATGACAGAGTCAGAGCCAACGACAGAGTCAGCCAATGACA GAGTCAGAGACAACGACAGAGTTAGAGACAACGACAGAGTCAGCCAAGGA CAGAGTCAGCCAACGACAGAATCAGAGACAATGACAGAGTCAGCCAACGA CAGAGTCAGAGCCAATGACAGAGTCAGAGCCAACGACAGAGTCAGAGACG ACAGAGTCAGAGCCAACGACAGAGTCAGAGCCAACGACAGAGTCAGCCAA TGACAGAGTCAG	G G	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	294	0.0034	-761	c.503 others(17): Show c.503+3552_503+4312del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
ME3_chr11_86436108_86677616	86574919	GTATCTGC others(754): Show GTATCTGCAAATTCCAAGGATGTTCACTCCATTTTCTGTGAACACTGGCA GCTTGCAACCCTGACAGGTTGTCCAGCCTGGGCAGGGGCCAACTTGTTCT CAGATGCAGCAAGGTGTGGGTGTGGACACAGCCTGCTTTCAGTGTATGGG AAGCAGTCATAGTAAAAAAGGCATCACTCTCTGCCCTTGAAACATATCTC AAGGTCTTCATACAGCTTCTAACATTTTTAAAATGTGCTTCTAATAACTG TTGTGCCAATGCATTAAACAGCCATTGGAGACAAAACCCTTTGGAAAATG TGCTCCAGGGTGAACTCCTCATGCTTGCTGTCACCTCCACCCCACGTAAG CTTCTGGTTCCAAGTTACTAGGATAAATGCGGCAAAGATGTAGAGGGTCC ACTTTAGCTAATGTTCTTACCCTCTTGTCACATTACGAAAGGGAGTTATT TCTCTAGACCTTGGTTTTACCTGTCTGGGAAATGGGAATAATATGTACCT CATCTACTTTACAGAGATGTAGGTGATTCAGCAAAGATAATGTGCAAGGA AATGATTTGGAATATAAATATTAAAGTTATTAACAATGATAGGAATAACT AATGTAGCATCATTGGCCCCTTTCTCTGAGATAAGAATAAACTTGGGACT GTTGGCAATCATTTCTGAGAGGACTTGGTTGCCTTTTAGAGGAGACAGAG ATGAAGTGGATGACGTGCTCCCCCCCAGGTTGGGTGCAGTGACTCACACT CCCTCAGAGCTT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG00741.hp1 others(35): Show HG00642.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01255.hp2 HG01261.hp1 HG01361.hp1 HG01934.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02723.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03139.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 NA18522.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0009 others(6): Show a0001c0001 a0001c0006 a0001c0009 a0001c0014 a0001c0022 a0002c0004 a0002c0007 a0002c0008 a0002c0018	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0009t0001 a0001c0014t0001 a0001c0022t0001 a0002c0004t0001 a0002c0004t0003 a0002c0007t0001 a0002c0008t0001 a0002c0018t0004	a0001c0001t0001g0091 a0001c0001t0001g0163 a0001c0001t0001g0175 others(35): Show a0001c0001t0001g0091 a0001c0001t0001g0163 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0006t0001g0048 a0001c0006t0001g0049 a0001c0006t0001g0051 a0001c0006t0001g0052 a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0009t0001g0201 a0001c0009t0001g0202 a0001c0009t0001g0203 a0001c0009t0001g0204 a0001c0014t0001g0053 a0001c0014t0001g0121 a0001c0022t0001g0205 a0002c0004t0001g0055 a0002c0004t0003g0208 a0002c0004t0003g0209 a0002c0007t0001g0010 a0002c0007t0001g0011 a0002c0007t0001g0013 a0002c0007t0001g0044 a0002c0007t0001g0045 a0002c0007t0001g0111 a0002c0007t0001g0174 a0002c0007t0001g0176 a0002c0007t0001g0180 a0002c0008t0001g0054 a0002c0018t0004g0284	38	320	0.1188	-761	c.184 others(19): Show c.184-15857_184-15097del	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
PPP1R12C_chr19_55085918_55122637	55093422	CCAGCCCC others(754): Show CCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCCTCCTC CCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGA GTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAG CCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCCTCCTCCCTC AGACCCAGGAGCCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCC AGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGACCCCAGCCCCT CCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCC AGGAGCCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCC CAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCCTCCTCC CTCAGACCCAGGAGCCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAG TCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCC CCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGA CCCAGGAGTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG GCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCC TCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAG GAGTCCAGACCT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02818.hp1 HG02004.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0178 a0001c0005t0001g0179 a0001c0001t0001g0178 a0001c0005t0001g0179	2	390	0.0051	-761	c.168 others(17): Show c.1683+162_1684-190del	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	13/21			chr19	TogoVar
RASA3_chr13_113972783_114137623	114006514	TCCCCCCT others(754): Show TCCCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCACTCCTG CCCTGCTGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGATG CCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCTTC TCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCCCTCCTGCC CTGCCGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCTGGATGCC ACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCTTCTC CCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCT GCCGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCT TACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCA CTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTG GACACCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGACACCACCTTA CCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCT CCTGCCCTGCTGGACACCACCTTACCCTTCTCCCCACTCCTGCCCTGCCG GACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACC CTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCCCTCC TGCCCTGCCGCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02280.hp1 HG02280.hp2 others(3): Show HG00639.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02738.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0041	6	67	0.0896	-761	c.174 others(18): Show c.1742+258_1742+1018del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
TNFRSF11B_chr8_118918557_118956885	118920522	ACGGTGGC others(754): Show ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCA AATCATGAGGTCGGGAGATGGAGACCATCCTGGCCAACATGGTGAAACCC CGTCTCTACTAAAATACAAAAAATTAGCCGGGTGTGGTGGCACATGCCTG TAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGTTTGAACCTGGC AGGCGGAGGTGGCAGTGAGCCAAGATCATGCCACTGCATTCACTCTAGCC TGGTGACAGAGCAAGACTCCATCTCAATTAAAAAAAAAAAAAAAGGACTG GCATGATATTTTCAAATTTTATCTCCCTTGGAAGAGAAGTTCAAAGTAAA CAGAACCCAAAGGAGCAGCCAGGGAGACCAATCAAATAAGCATTTGAATA ATTTAGCCTTGATGACATGAACTTTCAAACTTTTCTTAAACTTTGCAGAG TTGTGTAGGCCATTTCATTTTCTAGAAAGAACTTTGAGGGAATAACTGGA GCTGCTGAAGGGAAAATGAAGCCTATTAGTTAACTCTTGGCCACTTTTGT CATGTCCAGTATTGCAACATTGGGAGGCCTGTTACCCAGGTTAGAGCCTC TTCACTTTCACTTTCACTTTTAATTTTTCCAGGTTTATGAGTCTGTGTGA TATTTACCTAGATGTACTCTTCTATCAAGGTGGCCATAACTCATCTAATT TCACAAATCTGCTTTCACAGGGATGGTCTATGTCAACTCTAAATTCTAAG TCAGGCCGGGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01884.hp2 HG02257.hp1 others(12): Show HG01167.hp2 HG01884.hp2 HG02257.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02809.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03225.hp2 HG03540.hp1 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0051 a0001c0001t0001g0052 others(5): Show a0001c0001t0001g0012 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178	15	428	0.0351	-761	c.30 others(11): Show c.3091_*3851del	TNFRSF11B	ENSG00000164761.9	transcript	ENST00000297350.9	protein_coding		3034		chr8	TogoVar
ZNF516_chr18_76352682_76500242	76392959	CAGGTGGT others(754): Show CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0147 a0001c0001t0147	a0001c0001t0147g0325 a0001c0001t0147g0325	1	346	0.0029	-761	c.181 others(21): Show c.1811-13417_1811-12657del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar

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