Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

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)

Samplehapid

No_hapid

No_samplehapid

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End

Minac

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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	cdna cdna pos length	distance	status	chr	external
LBP_chr20_38341482_38382013	38379954	AGTGATAG others(2052): Show AGTGATAGGTGTGCTGAAAAGAGCCAGTATTGATTCCAGCCTACCTGTTT TGGGTCCCTGGGCAAGGTATCTCCAAGCCTCAGTGTCCTCTCCTGTCAAA TGAGGCTGGGAAGAGCTCTTGGCGGGATTATTTTGGAAATTGATGGGTTC AGGTTAAGCTTCCGTGGGTGCCCAGAGAATAACCAGGTGGTGGTCAATGG ATGACACAATTAGATCACCTGTCATACTTGGTGTCCCCAGAAGCAGACCC TGAAGAAAAGAGGTGAGTACAAGTATGACGGTGTTGCAAAAGTAATTGTG GTTTTTGCTGTTACTTTCTTTTTTTTTTTTTTTGAGGTAGAGTCTAGCTC TGTCGCTCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGACTCAGCCTCCTGAGTAGCTGG GACTACAGGTGCCTGCCACCACGCCCAGCTAATTTTTTGCATTTTTAGTA AAGGCAGGGTTTCACCATGTTAGCCAGGTTGGTCTTGATCTCCTGACCTC ATGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCTGGCCTGACTCCCAGTCTTTTCTCCAGTTAATCTTTCCTGG GTTTTTGATGAGATTCCTAGGAAGGGGGTCTTAAGATAATTGCATTTCTT TTGGAAAGAAGTTTTCTTATTCAGAGAAGGAAATTCCAGACAGAGTCCCT TCTGGTGCTTCAGGAAAGAGGATCAGAGAGCTAAGGAGGTGAGGGAAGAT CAGAGGGAGACCTTGAGTCTGCTTTTTTAGTTCAGCATATCAATGTGCCA TATATTGGCGTATTGTTTTCCGAGCCCCAACAGTGTTATATCTCGATGGG GTAGTACAGGACAACACAGCTGGCCCTAGAGTCCCATAGCAGGTTCTGAC GCCCTGAAATCTGACTGTAAACATATGAGTATCCTGGACAGCTCCAACCT GTAGAGAAGGACTGGCCTTGGGACAGGAGGTTCTGATCTCAATAACCGGA AGAACTGGACTGTCAAAGAACCTTCAAGAGACCACAGACTCATTGCTGTG TAGATCTCATTCTCACACAAAACCAAGATGCCACCTTGGAGCGCCTCCTC TTGACTACAACCTGTTCCTCCCTTCTGCCCTTCTCTGATTTCCCCTCTCC TCTCCTCAACCTGATCAAGACCTCTAGCCTCACCGGTGTCTTCCAGGCCG CTATTCTGATTTAATTTGTCTCCATAACTAAGCACAGTTCATCATCTCTA ACAGAATCCTTTCATCTCCTGACAATCCTACTTTCCACATCCCCAGCCTG GGGCCTAGGCGTAGGTAAGAGAATTAAATTACTGGAGGAAAAGGCAGGCA GGCTATAGCCAGTTGAGGTCTCCTTCCATCACCAAAACCATAGTTCTGTC TGAATGGCCTGAGCAGCAGCAACAGCCTAGAAATTGGAATACATGATATT TCTAATGAGGCTCTCAGGTAAGGTCTCAGAACCCATTCAGTCTCAAGACA TGCTTTTTGTTTTTGTTTTTGTTTCTTTGAGACAAGGTCTGGCTCTATCT CCCAGGCTGGAGTGCAGTGGCACAATCTCGGCAAACGACAACCTTCACCT CCCGGACTCAAGCCATCCTCCCACCTCAGCCTCCAGCATAGTGGGACTAC AGGCATGCACCACCATGCCCAGCTATTTTTGTGTGTGTGGGTATTTGTTG TAGAGATGGGGTTCTGCCATGTTGCCCAGGCAGGCCCTGAACTTGTGAGC TCAGGTGATCCGCCGGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCAG GAGCCACCATGCCCAGCTGCATTTCTTCTTTCTTTTTATTTATTTTTTTT GAGATGGAGTTTCTCTCTTGTTGCCCAAGCTGGAGTGCAATGGCATGATC TCGGCTCACTGCAACCTCGGCCTCCCAGGTTGAAGTGATTCTCCAGCCTC AGCCGCCTGAGTAGCTGGAATTACAGGCGCCCGCCACCATGCCCAGATAA TTTTTGTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG03710.hp2 HG02486.hp2 HG03710.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0316 a0005c0006t0001g0058 a0001c0001t0001g0316 a0005c0006t0001g0058	2	394	0.0051	-2059	c.32 others(11): Show c.3286_*5344del	LBP	ENSG00000129988.6	transcript	ENST00000217407.3	protein_coding			2942		chr20	TogoVar
NEU4_chr2_241804193_241822413	241805711	CTCCCCCC others(2052): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCC TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	319	0.0031	-2059	c.-35 others(11): Show c.-3566_-1508del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding			3481		chr2	TogoVar
PHF20_chr20_35767015_35955370	35803365	TCAGGCTG others(2052): Show TCAGGCTGGAGTGTAGTGGCGTGATCTCGGCTCACTGCAGTCTTTGCCTC CTAGGTTCAAGCAATTCCTCTGCCTCAGCCTTCTGAGTTGCTGAGATTAC AGGCATGCACCACGATGCCCGGCCAATTTTTTGTATTTTTAGTAGAGACA GGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGATGA TCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC AAGCCTGCCTGTTTTTGGGCTATTTGTATTATCTATAATTAGTTCCTTTT TTGGTTTCAGTATATATATATGTGTGTGTGTGTGTGTGTGTATATATATA ATATACTGCGTGTGTGTATATATATTATATATTGTATGTATATATATTAT ATAAGTAGTATCATACAACTTGTTTTTTTTCTGTGTCTTTGTTTTTTATA TTCAATATGTTTTTGTGATTTACCCATACTTAACTCCGCACCCTCCTCGC CCACCCCTGATATAGGGTCTTACTCTATTGCTCAGGCTGGAGTGTAATGG CACAATCATAGTTCACTGTGGCCTCCAACTCCTGGGCTCAAGTGATCCTC CTGCCTTAGCCCTCCATGTATCTGGGACTACATCTTAACTTCTGTATAGA GTTTTATTGTATGAATATACCACATTTTGTTTATCTAGTCCCCTACTAAT GGACGTTTGTTTGTTTGTTTATTTATTTATGATGGAGTCTAGCTCTGTCA CCCAGGCTGGAGTGTGGTGGCACAATCTTGGCTCATTGCAACATCCGCCT CCTGGGTTCAAGCAGTTCAGCCTCAGCTGGGATTACAGGTGCCCACCTTG CCAAGCTACTGTATGTTTTTTTTTTTTTTTTTTTTTTGAGACGTAGTCTT GCTCAGTCGCCCAGGCTGGAGTGCAGTGGCTCGATCTCTCCTCACTGCAA GCACTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAG CTGGGACTACAGGCACCCACCACCATGCCCAACTAATTTTTTTGTATTTT TTTAGTAGAGACGGGGTTTCACGGTGTTAGCCAGGATGGTTGCGATCTCC TGACCTCGTGATCCACCCTCCTCGGTCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCAGCCTAATTTATGTACTTTTAGTAGAGATGGGG TTTCGCCATTTTGGCCAGGCTGGTCTCAAATTTGTGACCTCAGGTGATCC ACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCT CCTGGCCCGTTTATTTATTTATTATTTTTTATTGTATTTTTTTTTAAATG GGTGCTTAAATTCCAGTTTTTCACCTGAGACACAGTGCTGTGTGAATGTC TCTTTGTGCACATACACAGACTTTTACTTGGGCAGTGGCTTTTGACCACA ACCTACAGTAAGAAATGTATTTTAAATCCAGTGTGGTACTCAACCATATG TACATAAAAATTTATTTTTATTTTGTTTTTATTATTATTTTTTTGAAACG CTGTCGAGACAGCGTCTCACTTTGTTGCCTAGGCTGTAATGCAGGGTCGT GATCTTGGCTCACTGCAATCTCCGCCTCCCAGGTTCAAGCGATTCTCGTG CCTCAGCCTCCTGAGTATGTGGGATTATAGGTGTGTGCCACCATGCCTGG CTATTTTTTTTTTATTTCTAGTAGAGCCGGTGTTTCACCATGTTGGCCAG GCTGGTCTTGAACTCCTGGCCTCAGGCGATCTGCCCAACTCGGCCTCCTG AGTGCTGGGACCACAGGCCAGATCCATGGCACCCGGCCTATTTTTATTTT TCCAGACAAGGTCTCATTCTGTTGCTCAGGTTGGAGTGCAGTGGTGGGAA CAGAGCTCATTGCAGCTTTGACCTCCCTTGGCTTAAGCAGTCCTCCTGCT TCAGCTGGGACCACAGGCACATGCCACCACGCCTGATTTTTTATTATTAT TATTATTATTATTATTATTATTATTATTATTATTTTGAGATGGAGTCTTG CTCTGTCGCC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	206	0.0049	-2059	c.83+ others(15): Show c.83+1773_83+3831del	PHF20	ENSG00000025293.17	transcript	ENST00000374012.8	protein_coding	2/17			INFO_REALIGN_3_PRIME	chr20	TogoVar
ADPRHL1_chr13_113394611_113458488	113435015	GGCACCCA others(2051): Show GGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCAGGACCCGGCACCCA GGTGTAGAGTGAACATAGGTGTACCCTGGGACCCAGCACCCAGGTGTAGA GTGAACATAGGTGTACCCCAGGACCCGGCACCCACGCATAGAGTGAACAT AGGTGTACCCTGTGACCCAGCACCGAGGCGTAGAGTGAACATAGGTGTAC CCCGGGACCCAGCACCCAGGTGTAGAGTGAACACAGGTGTACCCCGGGAC CCGGCACCCACGCATAGAGTGAACATAGGTGTACCCTGTGACCCAGCACC CAGGCGTAGAGTGAATATAGGTGTAGCCCGTGACCCAGCACCCAGGCGTA GAGTGAACATAGGTGTACCCCAGGACCTGGCACCCAGGTGTAGAGTGAAC ACAGGTGTACCCCGGGACCCAGCACCCAGGTGTAGAGTGAACATAGGTGT ACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACACAGGTGTACCCCGGG ACCCAGCACCCAGGTGTAGGGTGAACATAGGTGTACCCCGGGACCCAGCA CCCAGGTGTAGAGTGAACACAGGTGTACCCCGGGACCCAGCACCCAGGTG TAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGA ACACAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACACAGGT GTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCG GGACCCGGCACCCAGGTGTAGAGTGAACACAGGTGTACCCCGGGACCCGG CACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGG TGTAGAGTGAACACAGGTGTACCCCGGGACCCAGCACCCAGGTGTAGGGT GAACATAGGTGTACCCCGGGACCTGGCACCCAGGTGCAGGGTGAATACAG GTGTACCCCGGGACCCAGCACCCACATGTAGAGTGAACATAGGTGTACCC CGGGACCCAGCACCCAGGCACAGAGTGAACATAGGTGTACCCTGGGACCC AGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCAGCATCCA CACGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGCGCAGG GTGAACATAGGTGTACCCCGGGACCCAGCATCCACACGTAGAGTGAACAC AGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTGTAC CCCAGGACCCGGCACCCACGCATAGAGTGAACGTAGGTGTACCCTGTGAC CCAGCACCCACACGTAGAGTGAACACAGGTGTACCCCGGGACCCAGCACC CAGGTGTAGGGTGAACATAGGTGTACCCCGGGACCCAGCACCCAGGTGTA GGGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGCAGGGTGAAC ATAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACACAGGTGT ACCCCGGGACCCGGCACCCAGGCGCAGGGTGAACATAGGTGTACCCCGGG ACCCGGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCGGCA CCCAGGTGCAGGGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTG TAGAGTGAACACAGGTGTACCCCGGGACCCAGCACCCAGGTGTAGGGTGA ACATAGGTGTACCCCGGGACCCGGCACCCAGGTGCAGGGTGAACATAGGT GTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACACAGGTGTACCCCG GGACCCGGCACCCAGGCGCAGGGTGAACATAGGTGTACCCCGGGACCCGG CACCCAGGTGTAGAGTGAACATAGGTGTACCCTGTGACCCAGCACCCACA CGTAGAGTGAACATAGGTGTACCCCGGGACCCAGCACCCAGGTGTAGAGT GAACATAGGTATACCCCGGGACCCAGCACCCAGGTGTAGAGTGAGCATAG GTGTACCCTGGGACTCGGCACCCAGGCGCAGGGTGAACATAGGTGTACCC CGGGACCCA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03130.hp1 HG03471.hp2 HG02572.hp2 HG03130.hp1 HG03471.hp2	a0001 a0004 a0001 a0004	a0001c0065 a0004c0019 a0001c0065 a0004c0019	a0001c0065t0016 a0004c0019t0097 a0004c0019t0098 a0001c0065t0016 a0004c0019t0097 a0004c0019t0098	a0001c0065t0016g0079 a0004c0019t0097g0055 a0004c0019t0098g0112 a0001c0065t0016g0079 a0004c0019t0097g0055 a0004c0019t0098g0112	3	262	0.0115	-2058	c.380 others(17): Show c.380-3206_380-1149del	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7				chr13	TogoVar
ASMT_chrX_1610059_1648081	1637215	ACATGAGG others(2049): Show ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC AGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGG ACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACATGAGG ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC TGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCC TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC ATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGAT GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTG ATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT GTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGT GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA GATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTG TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT GGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT CCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGG ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA TCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTG AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGA TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTT CACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGT GTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC CTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTC TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT GTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCT GATGGTT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 NA18973.hp1 HG01516.hp2 NA18973.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0041 a0002c0002t0002g0199 a0001c0001t0001g0041 a0002c0002t0002g0199	2	223	0.0090	-2056	c.910 others(16): Show c.910+669_910+2724del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8			INFO_REALIGN_3_PRIME	chrX	TogoVar
CPEB1_chr15_82538201_82652363	82621350	AGTGGCTC others(2049): Show AGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGA TCACCTGAGGCCAGGAGTTCAAGACCAGCCTGACCAATATGGAGAAACCC CGTCTCTACTAAAAATACAAAATTAGCCAGGGGTGGTGGCACATGCCTGT AATACCAGCTACTCAGGAGGCTGAGGCAGGAGACTCACTTGAACCCGGGC AGAGGTTGCGGTGAGCCAAGATCCCGCCATTGCACTCCAGCCTGGGAAAC AAGAGTGAAACTCCATCTCAGAAAAAAAAAAAAAAAATCTAACATCAGGC TACAACTATACAATTCTTTGGTCCTACATTAAAAGTCAGCAGTCTATTTA GGTCTGAGAGCTGGTTACATGGTTGTGTTCAGTTTGGGAAAGTTGGAGCT CTTCGCCTATGATACAGCATGTACTTTCCTGTATGTGTATTATATTTCAG TTTTTAAAAACTGTTAAATAAACATATCAGTGCTAAACCTTACTTAGGAC TGCTTTGGCTAGTCAATTCCTTTCTAAACCTCCAAGCTATTTTAACTGAT TATTGAGAAATGGCATCTCAGTGAATTAATATGAAACTGCTCCTCCAATC ATTGCCTCCATCCTAAATATTAAGTCTCCCTACCCATATAGCAGTTAAGA CATCCCTTAATGATGTTTCACCACTTTTCACATCTTTACAGACACCGTTA CTAACAACTCAACACATTAATGCTTAAATCACATGTCCATTTGCAGCCCA TTTTCTCCATTCCTCACAGATTCCAAAAGGTCTATGGCTTAAAGGACTAG GGAATGTGGAGAGGGCCCTCTAGGTGGCAGACATCCCTGTCATCTCCACT AGACAGTTGTTGGGGTAGGAAATCCAGCTCTGGCCTGACCTTCCAGCCCC ACCCTAGCTCCTACCACCCATCATGCAACAAGGGCCTTCTTGGTGGGGTA CTAGCCCAAAAGCTCAGGCCTTTGCAAAACCCTCTTAAACCACAGCAAGT CATAACTTTCTTGTATATAAACGGGGAATTCAGATGCTCCAGCTACTCTT TCCCTGCCCCGCCACATCTCTCTCCAGAGTCGCACTCTATCACCCAGGCT GGAATACAGAGTGCAACCTCGGCTCACTGCAACCTCCGACTCCCCGGTTC AAGCAATTCTCCTGCCTCAGCCTCCCGGACTACAGGCACGCACCATCATG CCCGGTTAATTTTTCTATTTTTAATAGAGACAAGGTTTCGCCATGTTGGT CAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCTC CCAAAGTGCTGAGATTACTACAGGCATGAGTCACTGCACCCAGCCCACAT CTCTTCTTCATTAATTTCTATTCAGTCAGGGATAGACAGCAAGTCAGCTG TCTAACCAGGGGTTCAACCTTGTCTTCTTTCTTGGAAGCATTCTCCATCT ATACAAATACTTCTCTTGGAAGACCCTCTTGCTTGGCTTAAATGACAAAG CCACATCCTACCCCACCCTCCTCCACGGACGGGGACGGAATCACTTCAAA TGCTACCCCCCTCCTTATGTGATCCTCTTTATAAGCCAGGGAAGGGTTGA GCTAATGTTTGTGGTAGGAGGGACAGCTCTGTGACCTTTTGGTAAGCCCT GGCGGGAGGTATCTGGTCCCACCTCTTAGGGATTCTCATTACACCACAGG TCATTTAACAGCTCTTTAGTCTCAGCTTTGGGCCCTAATGGCCAATTCTG GAGCAACAGAAAAAAAATAATCTACTCAACATCCAGTTAAGACTAAAGTA ATTTTAATTCTCTTCAAAGCCTATTTCAAATGCTGCTTTAACCAGAAGTG TTTCCTAGTTCTCAAACCAAACCAACCTCTTCCTGACCCTATCACAGCAC TTTTCCAATGATGCTTTATCAACTGGGTTATGCATGCAACTAGCAATGTG AAACACTGTGTTAGGAAACACACCATTTGAAAATTTATTACAAAATGTTT GTTTTAGAAGAACTAGTGGGGAAAAGCATACAGAAAAAAATTACCCAGCC AGGTGCG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0331 a0001c0001t0005g0331	1	354	0.0028	-2056	c.271 others(17): Show c.271+3787_271+5842del	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	3/12				chr15	TogoVar
PRKCZ_chr1_2045411_2190395	2121830	GTGGTAGT others(2047): Show GTGGTAGTTAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCAC GGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGCTGTAGTTAGCG TCATGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTT AGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTAGT TAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGTAG TTAGGGTCGTGGTGGTTAGGGTCATGGTGGTGGTTAGGGTCACGGTGGTG GTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAG GGTTGTGGTGGTTAGGGTGGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGG TCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTGGTTAGG GTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTC GTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGT CACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGT CGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGG TTGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGG GTCATGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAG GGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCACGGTGGTGGTTA GGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGG GTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGT GGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGG TGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTG GCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGT GGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCA CGGCGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTGGTTAGG GTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGTTC ATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGT CACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGTTA GGGTCACGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTA GTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTT AGGGTCGTGGCGGTGGTTAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGT TAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCATGGTGG TGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTG GTTAGGGTCGTGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGT GGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGG TTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTG GTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTAGT TAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACGGCGG TGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACG GCGGTGGTTAGGGTCACGGTGGTAGTTAGGGTGGTGGTGGTTAGGGTCAC GGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGG TCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGCGGTGGTTAGG GTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGCGGTTAG GGTCA	G G	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	286	0.0035	-2054	c.335 others(19): Show c.335-13431_335-11378del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17				chr1	TogoVar
SLC25A33_chr1_9534465_9590173	9535553	ATGCCACT others(2047): Show ATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTTCATCTAAAAAA ATAAATAAAAATAAATAAAATAAAATAGAGATGGGGTCTTGCTATGTTGC CCAGGTTAGTCTAGAGCCGAAATGATCCTCCCACCGTGGCCTCCCAAAGT GATGAGATTACAGAGGTGAGCCACCACACCCAGCCTGTAAAAATAATTTT TTTCTTTTTTGACACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAA TGGCATGTTCTCAGCTCACCACAACTCCCACCTCTTGGGTTCAAGCCATT CTCCTGCCTCAGCCTCCCAAGCAGGTGGGATTACAGCCGCCCACCACCAT GCCGAAGTTAATTTTTGTATTTTTAGTAGCAGCTTATGGGCCAGGCTGGT CTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCTCAAAGTGC TGGGATTACTGGCGTGAGCCACCGCGCCTGGCCTAAAAATAATTTTTAAA ATTTTTATATTAAAATTGCTGCTAGCAAAACCTTTTTTTTTGTATATTGA CCTTATTTCCTGTGATCTTGCTAAATTCACTAATTAGTTCTAGTAGTTGT TATATAGATTACTTAGAATTTTCTAGTAAACAGTTACATCATCTATGACT GAAGACAGTTTCACTTCTTTATGATCTTTACACATTTTTTTTTCTTGCCT TACTGCACTGACTAGGGCCTCTAGCACAACATTGAGTAAGTGGTAACGGC AAATATCTTTGCTTATTGCCAATCTTAGGGGCAGGTGGTCAGTTATTTAA TGTTGTGTGTGATGTTAGCTATAGGTTTGGGGTAGACGCTTTATATCAGA TAGAGGAATTCCCTCCTGTTCCTTGTTTGCTGAGAGCTTTTTTTCATGAA TAGGTGTTCAGTTTTTTCAAATGCTTTTCTGCATCAATTTACATGGTCAT CAGGTTTTTTTCCATTATTCTCTCTTTCTCTTTCACTGTTTTTTTTTTCT TTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGCTGTTGACACAGCCCC AGGAGGTCCTGGGAACATGTGTCCCTGTTATTCTCTTAATATGCTGAATT ATATGGATTGATTTTTTGAATGTTAAACCAATCTCTAATTCCTGGGCATC TCTCATTTCGTCCTGATGTATTATCCTTTTTCTATATTGCTGGATTTGAT TGCCAATGTTTCATTAAAGGTTTTTATCTATTGGAATCTCTGTTGTATAC CCAGTACATGGCCATGGCCAATGCCTGAGCTGGTGTCAGAGGAGCTCTAG AAGTCTAGGAAGGGGGCCATCCTAGTCAGGGAAAATAGCAGGTTCAAGCC AGGCGTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGCG GGCGGATCACCTGAGGTCAGGAGTTCGAGCCCAGCCTGGCCAACATAGTG AAACCCTGTCTCTACTAAAAATACAAAAATTAACCAGGCATGGTTGCGGG CGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAACGCTTGAA CCCAAGAGGTGGGGGTCGCAGTGAGCCGAGAACGCACCATTGCACTCCAG CCTGGGCAACAAGAGTGAAACACCGTGTCAAAAAAAAAAAAAAAGAAAAA ACCAACAAAAATTAGCCAAGCATGGTGGCATATGTCTGTAATCCCAGCTA CTCAGGAGGCTGAGGCAGGACAATCGCTTGAATCTGGGAGGTGGAGTATG CAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAATGAG GCCTCCTCTTAAAATAATAGGCCAGGTGCGGTGACTCACGCCTGTAACCC CAGCACTCTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAG ACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCAGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGACGA GATCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp2 others(110): Show HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG01099.hp1 HG01106.hp2 HG01346.hp1 HG01884.hp2 HG01975.hp2 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03239.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03710.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18981.hp1 NA18990.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19067.hp1 NA19067.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(14): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0003t0002 a0001c0008t0002	a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 others(110): Show a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0278 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0315 a0001c0001t0002g0317 a0001c0001t0005g0346 a0001c0001t0005g0347 a0001c0001t0005g0348 a0001c0001t0005g0349 a0001c0001t0005g0350 a0001c0001t0005g0353 a0001c0001t0005g0354 a0001c0001t0007g0319 a0001c0001t0007g0320 a0001c0001t0007g0322 a0001c0001t0007g0323 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0008g0239 a0001c0001t0008g0242 a0001c0001t0008g0252 a0001c0001t0008g0301 a0001c0001t0008g0316 a0001c0001t0011g0228 a0001c0001t0011g0277 a0001c0001t0011g0285 a0001c0001t0016g0326 a0001c0001t0016g0327 a0001c0001t0017g0351 a0001c0001t0017g0352 a0001c0001t0018g0279 a0001c0001t0018g0280 a0001c0001t0032g0225 a0001c0001t0033g0328 a0001c0001t0034g0356 a0001c0001t0036g0355 a0001c0001t0038g0276 a0001c0001t0040g0211 a0001c0001t0041g0321 a0001c0003t0002g0272 a0001c0003t0002g0273 a0001c0003t0002g0314 a0001c0008t0002g0012	113	362	0.3122	-2054	c.-41 others(11): Show c.-4138_-2085del	SLC25A33	ENSG00000171612.7	transcript	ENST00000302692.7	protein_coding			3911		chr1	TogoVar
TMTC1_chr12_29495840_29788942	29691448	AAACTGGT others(2047): Show AAACTGGTTTCCCACACAGCTGGCTCTGTGTGAATTACTCTCCCTCCATT GAAATTCCCCTGTCTTGATAAATCAGCTCTGTCTAGGCAGCAGGCAAGGT GAAACCCGTTGGGTGGTTACAGTGACTGTCAAACTGACCATTACCGGAAG CCAAAACTGAGGAAACAATTCTCAATCACTCAGATCTTAGAATAGATGGA GAAACTTCTCAGGATGTTTCATAAGACATGATGAGGAAGTCATACGGTAA CAACTCATACACCCAAAAGTAGGAAAAAAAAAAAAAAAAAACCTACTTCC CACAATGGTGTACTGGAGGTCTGAGAGAGGACACAAGTGAGTGTGCTGTA CAAATAGAACTGTGTTGGAAGGAAAAACATGAAATTCGGGATTATTTAGT CAACACTAAGAGGCTCCAATGGAGCTACTGCTGTGTCCAGAGGGTCGCAC ATCACCTCTGTAAAAGGCATTATAGAAGACCTTAACAAATCGAAGAAAAA AGCTATGAACAGATAGGAATGTTCTCTTTGTAGAGACTAGACAAGTGTAA TTAATAATAAAAGCACTCTCAGCTCATGAGCACATTGTGATATAAATGAA TGACCTCAGTAGACATTGTCATTACTCTCAACAAAGAATGTTCAAATTAT TACCAATGTTTTCAGTGTGCTTGTGTCTTTATTCCCCACTGATAACATTA CAAGAATATGCTTTGGCTTTCCAAACAATACAATTTATTCTCTTTAATAA TTCTTCTTTTTCCTCCCTTTCACATAATCATACCACTTTATTCTCATTGC TTCCCATCAACATCATCTTTATTTCGCTTTTCTTCTCAATTCTTCTTATA ATCTTTCTCTCCTCTATTGTTTGTTCTATGCCATGCTTGGTTAGGAAAAA ATAATACACAATTGTGCTCTGAGGGCCAACGAAATGAATTAAGTTCACCT GAAAGCTTCAAAGGACACAGTCAATATCATCAGTCATTAGTCAAAATGAG ATACCACTTCCCACGCACTAGAGTGGCCATAATCAAAGAGGTAGACAATA AGGAGTACTGGTGAAAATGTGGGGAAACTGGAACCTTTATACATTACTGG TAGGATATGTCAACTGGTACAAGCAGTTTGGAAGAGTTCAGCAAAAATTA AAACATTCCTTTACTATATAAAGTGGCAATTCCTTCCTTGGTATTCATCT TTCCAAGAATATAAAAATAAATATCCACACAAACACTTATATGTGAATGT ATAGAGTATTATTCACGACAGCCCCAAATGAAAACCATCCAAATGTCCAC TTACAGGTGAATGGATAAACAAAACATTTATAAACAAAATACAAGTGAAC ACGATTCAGCAATAAAAATAGAAGAAAGTAGTAATACATGTTATAACATA GATAAACCTTAAAAACATCATACTACATTAAAGAAGCCTGACACAAAATA ACACGTTTTATTATTATATTTATATGTAATGTCTAGAAAAGGCGAATCTA CAAAAACAGAAAGCAGATGAGTGATTGCCTGGGGCTGGGATTAGGAGTGA AAACTGACTGCAAATGCCCATCAGGGGTCTTTTTAGAGGGGTGAGAATAT TATAAGAGTGAACCGTAGTAAGGTTTGCACAGCTCTAAAAGTTTTGAAAA TGTTTAAAGTGTTTTCTTTAATTGACACATAATAATTATAAATATTTATG AGGTACAGAGGGATATTTAAATACATACGATGTGTACTGATCAAATCAGC TGTAAAAGTTTTGAAAATGTTCAAAGTTCTTGTTTTTTAAAATTGACACA TAATAATTATACATATTTATGAGGTACAGAGGGATATTTAAATACATACA ATGTGTGCTGATCAAATCAGGATAATTAGCATATCCATCATCTCAAACAT TTATCTTTTCTTTGTGTTGGGTAGATTGAAAATCCTCTCTTCTAGCTATT TGAAAATATATAATAAATTACTATTAACTATAGTCAGTCTATAGTTCTAT AGAATATTGGAATTTATTCCTCCTAACTGTAATTTTGTATCCAAAATTTG TAACC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00438.hp1 others(76): Show HG00140.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00741.hp1 HG01070.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01993.hp1 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02132.hp2 HG02145.hp2 HG02258.hp2 HG02300.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp1 HG03486.hp1 HG03492.hp1 HG03516.hp2 HG04184.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp1 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA19006.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19076.hp1 NA19084.hp1 NA19089.hp1 NA19089.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(11): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0012 a0001c0013 a0001c0014 a0001c0021 a0002c0003 a0002c0004 a0002c0009 a0002c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0034 a0001c0001t0053 a0001c0001t0055 a0001c0001t0061 a0001c0001t0067 a0001c0001t0070 a0001c0001t0076 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0011 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0032 a0001c0002t0036 a0001c0002t0049 a0001c0002t0056 a0001c0005t0003 a0001c0005t0004 a0001c0005t0010 a0001c0005t0033 a0001c0005t0079 a0001c0006t0003 a0001c0006t0046 a0001c0008t0004 a0001c0010t0026 a0001c0012t0018 a0001c0013t0021 a0001c0014t0019 a0001c0021t0024 a0002c0003t0017 a0002c0003t0086 a0002c0003t0088 a0002c0003t0096 a0002c0004t0007 a0002c0004t0008 a0002c0004t0012 a0002c0004t0038 a0002c0004t0039 a0002c0004t0091 a0002c0004t0093 a0002c0009t0007 a0002c0009t0012 a0002c0009t0040 a0002c0029t0089	a0001c0001t0001g0155 a0001c0001t0001g0181 a0001c0001t0002g0089 others(76): Show a0001c0001t0001g0155 a0001c0001t0001g0181 a0001c0001t0002g0089 a0001c0001t0002g0195 a0001c0001t0003g0109 a0001c0001t0003g0179 a0001c0001t0003g0196 a0001c0001t0006g0051 a0001c0001t0011g0197 a0001c0001t0014g0157 a0001c0001t0014g0158 a0001c0001t0015g0059 a0001c0001t0015g0180 a0001c0001t0016g0137 a0001c0001t0016g0184 a0001c0001t0020g0183 a0001c0001t0034g0097 a0001c0001t0053g0165 a0001c0001t0055g0154 a0001c0001t0061g0090 a0001c0001t0067g0152 a0001c0001t0070g0204 a0001c0001t0076g0140 a0001c0002t0001g0034 a0001c0002t0002g0037 a0001c0002t0002g0058 a0001c0002t0002g0076 a0001c0002t0002g0083 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0202 a0001c0002t0003g0094 a0001c0002t0003g0119 a0001c0002t0004g0075 a0001c0002t0004g0102 a0001c0002t0004g0167 a0001c0002t0005g0185 a0001c0002t0005g0205 a0001c0002t0011g0172 a0001c0002t0013g0096 a0001c0002t0014g0173 a0001c0002t0015g0078 a0001c0002t0032g0063 a0001c0002t0036g0118 a0001c0002t0049g0099 a0001c0002t0056g0067 a0001c0005t0003g0200 a0001c0005t0004g0110 a0001c0005t0010g0105 a0001c0005t0033g0122 a0001c0005t0033g0194 a0001c0005t0079g0220 a0001c0006t0003g0024 a0001c0006t0046g0016 a0001c0008t0004g0139 a0001c0010t0026g0053 a0001c0012t0018g0002 a0001c0013t0021g0030 a0001c0014t0019g0027 a0001c0021t0024g0008 a0002c0003t0017g0242 a0002c0003t0086g0258 a0002c0003t0088g0227 a0002c0003t0096g0225 a0002c0004t0007g0231 a0002c0004t0007g0239 a0002c0004t0007g0246 a0002c0004t0008g0232 a0002c0004t0008g0257 a0002c0004t0012g0266 a0002c0004t0012g0275 a0002c0004t0038g0237 a0002c0004t0039g0223 a0002c0004t0091g0248 a0002c0004t0093g0260 a0002c0009t0007g0255 a0002c0009t0012g0234 a0002c0009t0040g0267 a0002c0029t0089g0268	79	276	0.2862	-2054	c.938 others(19): Show c.938+58164_939-58113del	TMTC1	ENSG00000133687.16	transcript	ENST00000539277.6	protein_coding	5/17				chr12	TogoVar
GAL3ST2_chr2_241771822_241809287	241805556	ACCCTCCC others(2044): Show ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAG AGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAAC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACC TT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0007	1	314	0.0032	-2051	c.13 others(11): Show c.1391_*3441del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding			1270		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805556	ACCCTCCC others(2044): Show ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAG AGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAAC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACC TT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	319	0.0031	-2051	c.-37 others(11): Show c.-3721_-1671del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding			3636		chr2	TogoVar
SCN3A_chr2_165082526_165209050	165158183	GTGGTTTC others(2044): Show GTGGTTTCAGGATTGTTAATCTATACTACCATTGGAAACAACTTTATCAA CTAGGGTATTGTTCCTTTTACCTTTAGTCTTACAGACTCCACTCATTTCC AAAGTTACTTAGGTTAGCATGTTATTACCCCACCACCTACAGTGAGGTCA TTTCATATTTTGCAATACATGTATATATTTTTGTCACATATTCCATTTCT TCCTGGGATCCCCAAACCTCACAAAAGATTTTTTTTTTAATTTGTATATA TTAAGATTCACTCTTTGTGTTATAAAGGTCTATGAGTTTTAACAAATGCA TTAAGTTTCATATTCACCATTATAGAATCTTAGAGAACAGGTTCTCACCC TAAAAAAAAATCCCCTTTGCTTTACCTAGATAATCCCTCACCATGAACCC CTGGAAAACACTATTTTCTTATCATCTCTGTTGCTTTGTGTTTTCTAGAA TGTCAGGTAATTGAAATCATACAGTATGTAGCTTTTTGAGGTTGGCTTTT TCTCACTTAGAAATGTGCATTTAATATTCATTAATATTTGTTTGTATCTT GATAGCTCATTTCTTTTTAATCACTCAGTAATATTTTATTGTATGGGCAT AACAATTTATTTATCTATACAACTATTGAAGGACATCTTGGTTGCTTCCA GTTTGGGGTCATTGAAGGGCATCTTGGTTACTTCCAGTTTGGGGTCATTA TGAATACAGCTGCTATAAATATTCACATGCAGGTTTTTTGTGAAGACATA AGTTTTCAAATTGATCAGCTAAATACCTAGAAGTGCAGTTGTTGGATCAT ATGGTAAGACTATGTTTATTTTGTAAGAAACCGCCAAACTGTCTTCCAAG GCGGTTGTCTAGTTTTGCATTCCCACCAGCAATAAGCAAGAGTTCCTGTT ATTCTGCATCCTCATCAGAAGTTGGTATTGCCAGATACATTTTTCAGTCA TTCTAACAGATGTGCAGTGGTAACTCCTTGTTGTTTTAGTTTGCAATTCC CTAATGACAAATGATGTCGAGTGCCTTTTTACCTCCTTAATAACCACCTG TACTATATACTCGTGTGGGGTATCTGTTCAGATCTTTTGCCAGTTTTAAA TTGGGTCATTTGTTTTCTTATTGTTGAGTTTTAAGAGTTCTTTAGATATT CTGGACACTGGTTTGTTGTTTTGTTTTGTTTTGTTTTCTTTTGAGACAGG GTATAATTCTGTTGCCCAGGCTATAGTGCAGTGGTCTGATCATGGCTCAC TGCAGCCTCGACCTCCCAGGCTCAAGTAATCCTTCTGCCTCAGCCTCCTG AGTAGCTGGTACCACAGATACACTACACCATGCCTGGCTAATTTTTTTAT TTTTATTTTTTGGAGAAACAGTGTCTCCCTATGCTGCCCAGGCCAGTCTC AAACTCTTGGGCTCAAATGATCTTCCCCTCTCAGCTTCCCAAAGTGCTGG ATTACAGGAATGAGCTACTTCACCTAGCCCCAGTCTTTTTTTTTTTTTTT TTAAATCAGATATGTGCTTTGCAAATATTGTCTTCCAGTTGCTGGTTTGT CTTTTCATTCTCTTAAGAATATCTTTGTAAAACAGCAGCTTTTAATTTTA ATAAAATACAAATCATTTATTTCTTTAATGGAATGTGCCGCTTAAATACA AAATGGTTTTGTATTTAAAACTCATCACCTGGCTCACTCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGAC CATCCTGGCTAACATGGTGAAACCTGGTATCTATTAAGAATACAAAATTA GCCGGGCGTGGTGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATAGCTTGAACCCGGGAGGCGGAACTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCTAAACTCCGTCTCAAAA AAAAACAAAAACAAAAACAAAAATCTCATCACCAATGGCCAGGCGCAGTG GCTCATGCCTGTAATCCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATCA TT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00544.hp2 others(98): Show HG00140.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00642.hp1 HG00673.hp2 HG00741.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02145.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02735.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG04184.hp1 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18968.hp2 NA18978.hp2 NA18981.hp1 NA18990.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19083.hp1 NA19085.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0014 a0001c0017 a0001c0026 a0001c0029 a0002c0006 a0002c0015 a0002c0032 a0002c0033 a0006c0023 a0007c0024 a0008c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0014 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0006 a0001c0004t0009 a0001c0005t0002 a0001c0011t0001 a0001c0011t0003 a0001c0014t0001 a0001c0017t0004 a0001c0026t0012 a0001c0029t0001 a0002c0006t0002 a0002c0006t0004 a0002c0006t0010 a0002c0015t0001 a0002c0032t0004 a0002c0033t0004 a0006c0023t0001 a0007c0024t0001 a0008c0021t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 others(97): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0174 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0002g0028 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0004g0019 a0001c0001t0015g0069 a0001c0002t0001g0127 a0001c0002t0002g0054 a0001c0002t0005g0308 a0001c0002t0007g0302 a0001c0002t0014g0072 a0001c0003t0001g0114 a0001c0003t0001g0118 a0001c0004t0001g0073 a0001c0004t0002g0025 a0001c0004t0002g0038 a0001c0004t0002g0042 a0001c0004t0002g0044 a0001c0004t0004g0007 a0001c0004t0006g0043 a0001c0004t0006g0045 a0001c0004t0006g0053 a0001c0004t0009g0008 a0001c0005t0002g0001 a0001c0005t0002g0037 a0001c0005t0002g0039 a0001c0005t0002g0040 a0001c0005t0002g0055 a0001c0011t0001g0089 a0001c0011t0003g0293 a0001c0011t0003g0294 a0001c0011t0003g0296 a0001c0014t0001g0171 a0001c0014t0001g0172 a0001c0017t0004g0020 a0001c0026t0012g0022 a0001c0029t0001g0128 a0002c0006t0002g0035 a0002c0006t0002g0036 a0002c0006t0004g0009 a0002c0006t0004g0011 a0002c0006t0004g0013 a0002c0006t0004g0014 a0002c0006t0004g0015 a0002c0006t0004g0017 a0002c0006t0010g0012 a0002c0015t0001g0205 a0002c0015t0001g0206 a0002c0032t0004g0016 a0002c0033t0004g0010 a0006c0023t0001g0110 a0007c0024t0001g0075 a0008c0021t0001g0102	101	314	0.3217	-2051	c.103 others(19): Show c.1031+2074_1032-2281del	SCN3A	ENSG00000153253.20	transcript	ENST00000283254.12	protein_coding	9/27				chr2	TogoVar
PCGF3_chr4_700832_775089	744955	TCCGTGGA others(2042): Show TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCT GCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGG GGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGT GTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGC TGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCG GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGTTCG	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0128 a0001c0003t0010g0128	1	366	0.0027	-2049	c.462 others(16): Show c.462+324_462+2372del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10			INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRV1_chr5_90553797_91169437	90686000	GAAAAGAC others(2041): Show GAAAAGACATCTAAAAAGCAGTACATACAGAGGGATGTAAGCACAGAGGG ACATGTATCCTTGATTAACACAGCCTCTCAAAGTTGCAATTAGGATAATC AACTAGAAAACTAGAAATACTCTTGTATCTTTTTCAAGGGACAAATCTAG AGTCTTTTTTTTTGGGGGGGGGGATGGAGTCTCGCTTGATTTTACAATTT TTTTATTTTTATTTTTATTTTATTATTATTATACTTTAAGTTTTAGGGTA CATGTGCACAACGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTG GTGTGCTGCACCCATTAACTCATCATTTGGCATTAGGTATATCTCCTAAA GCTATCCCTCCCCGCTCCCCACACCCCACAACAGTCCCCAGAGTGTGATG TTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCACTTCCCACCTATGAG TGAGAATATGCAGTGTTTGGTTTTTTGTTCTTGTGATAGTTTACTGAGAA TGATGATTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCA TTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTT AATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGCCTTTGCTA TTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCTG CATGATTTATAGTCCTTTGGGTATATACTCAGTAATGGGATGGCTGGGTC AGATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACGCTGACTTCC ACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCT ATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGGC TGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCA TTTCTCTGACGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCT GCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTT TTTGATGGGGTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGAT TCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCGAAAATTTTCTCAC ATTTTGTAAGTTGCCTGTTCACTGTGATGGTACTTACTTTTGCTGTGCAG AAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGC CATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCTATGTCCT GAATGGTAATGCCTAGGCTTTCTTCTAGGGTTTTTATGGTTTTAGGTCTA ACGTTTAAGTCTTTAATCCATCTTGAATTAATTGTTGTATAAGGTGTAAG GAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGTCAGTTTTTCTGAA TGGGCAAAAACTGGAAGCATTCCCTTTGAAAACTGGCACAAGACAGGGAT GCCCTCTCTCACCACTCGTATTCAACATAGTGTTGGAAGTTCTGGCCAGG GCAATTAGGCAGGAGAATGACATAAAGGGTATTCAGTTAGGAAAAGAGGA AGTCAAATTGTCCCTGTTTGCAGATGACATGATTGTATATCTAGAAAATC CCATTGTCTCAGCGCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAA GTCTCAGGATACAAAATCAATGTACAGAAGTCACAAGCACTCTTATACAC CAATAACAGACAAACAGAGAGCCAAATCATGAGTGAACTCCCATTCACAA TTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGACGTG AAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGA GGATACAAACAAGTGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCA ATATCGTGAAAATGGCCATACTGCTCAAGGTAATTTATAGATTCAATGCC ATCCCCATCAAGCTACCAATGACTTCACAGAATTGGAAAAAACTACTTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03041.hp1 HG01891.hp1 HG03041.hp1	a0054 a0055 a0054 a0055	a0054c0057 a0055c0058 a0054c0057 a0055c0058	a0054c0057t0001 a0055c0058t0003 a0054c0057t0001 a0055c0058t0003	a0054c0057t0001g0145 a0055c0058t0003g0060 a0054c0057t0001g0145 a0055c0058t0003g0060	2	158	0.0127	-2048	c.649 others(16): Show c.6490+9_6491-1810del	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	29/89			INFO_REALIGN_3_PRIME	chr5	TogoVar
PCGF3_chr4_700832_775089	744984	CCCGGGGG others(2041): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGT TAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTT AGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG TCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0281 a0001c0001t0008g0281	1	366	0.0027	-2048	c.462 others(16): Show c.462+299_462+2346del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10			INFO_REALIGN_3_PRIME	chr4	TogoVar
RETREG2_chr2_219173275_219190475	219188430	AAAAAAAA others(2038): Show AAAAAAAAAAAAAAAAAGTATTCTGAGATTTGACGCTGGCCTGTCTTTAC AGCAACAGCAAACCCCAAACAGCTTGTCCTCCCCACTGCTCAGTTGTGCT GCCCTCCCCCACCTCTGCTCTACACACACACCCCCTATCCCTTCACTTGG CAAATGTCTCACTTACCTTTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTTTTGAGATGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCATAATCTTCAGCTCACTGCAACCTCCA CCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCTCACACCACCATGCCCAGTTAATTTTTTTGTATTTTTAGTAG AGACATGGTTTCATCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCA AATGATCCACCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAATCGAGAG CTACCATGCCCGACTTTCACTTATCTTTTAAGATGCACTTCAGGCCACAC CTCATCTACCAATGTCCCCTGATATCCCTCACCATGCCACCCCCCACCCC AATGTCAGTCCCACTCTCCTAGTGCTTTTGTAGTCTATTGGGCATACTTC TGTTTTCCCACTTACCACAGGGAATCCTTATACCCTCTCTGAAAGTATGT GGATATAGAGTATATAGGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTATACAGATACATATATACGTATGTATACCCGCCACAATACTGCTT ATTCTTGAAGGCAGAGACAATGTCTTATCATCTGAATATCCTCAAAGCCT AGCATAGTGTCTGGCACATAGTAGGTGCTCAAAAAATGCGTGTTAGACTA AATTGAACTAATACTAGAGTAACCAGTTATAGATTTTGAAGCAACTAGTG AAAAGAGTTTGGTGACTGATACATGGCTATGTTATTGATGCATGCCTTTG CTTGTCCATTACTGTTCTAGAGGGAATAGTAGCTAGGTTAAAATAATCGG CAGATAGACTTGTGAGTTCTTTTTCCCTGGACTAGGTTAAAGGCAATTCA AACAATCTAGAGCTGGAGATTCGTATTTGCTGGTTTGGGAGCGGGGTTTT CTGAGTTTAAGGTAAGATTGCCCAACTAGCTTGATCTTCTGTGATTGCAT CAAATTATTATGTTGTTTGGAAAACAATTTTGGATTTAGACTCTTTTTTG AGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAGCTGTAAGGTCAT AGCTCACTGCAGCCTTAAACTCCTGGGCTCAAGTGACCCCTTTGCCCCAG CCTCCCGAGTAGCTGGGACTACAGGTGCCCACTACCATGCCCAGCTAATT TTTTGTTTGTTTTGAGACAGAATTTCACTCTTGTTGCATAGGCTGGAGTG AAATGGTGCAATCTCAGCTCACCGCAAACTCCACCTCCCGGGTTCAAGTG ATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGCACCAC CACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTT GGTAAGGCAGGTCTCAAACTCCCGACCTCAGGTGATCCACCTGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCAGCT AATTTTTAAAGTATCTTTTAGAGACAAGGTCTTGCTTTGTTGCCCAGGCT GGTCTCAAATTCTTGACTTCAAACAATCTTCCCACCACAGCCTCCTGAGA AGCTAGGATTACAGGCATGAGCCACTGCACCTGTGATATGGTTTGGTTGT GTCCTCACCCAAATCTCTCACCCTTTAGGAAATGACTAGATCATGAAAGC TCCACCCTCATAAATGGGATTAGTTGGCTAGGCATCGTGGCTCACCCCTG TAATCCCAGTACTTTGGGAGGCCAAGGCCAGTAGATCACTTGAGGTCAGG AATTCGAGACCAGCCTGGCCAACATGGTGAAACTTGGTAGGCAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 NA19006.hp1 HG02965.hp1 NA19006.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0046 a0002c0001t0001 a0002c0001t0046	a0002c0001t0001g0002 a0002c0001t0046g0002 a0002c0001t0001g0002 a0002c0001t0046g0002	2	430	0.0047	-2045	c.58 others(11): Show c.5802_*7846del	RETREG2	ENSG00000144567.11	transcript	ENST00000430297.7	protein_coding			2956		chr2	TogoVar
CCDC92B_chr17_2715801_2754652	2735440	CTTTTTTT others(2037): Show CTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCACAGACTGGAGTGCAGTG GCACGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCT CCTTCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCAGCTGCCACCATGC CCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCC AGGCTGGTCTTGAACTCCTAACCTCAGGAGATCCATCCGCCTTGGCCTCC CAGAGTGCCAGGATGACAGGTGTGAACCACTGTGCCCAGGCCCATATAAC TTTAGCCTCTTCTACTTCTCAAACAGGAAAACAAATGGAGTGGCAAAGTC AGTAGAGAGACAGAGAACCTGGGTTCTAGCCTGCTCCTCCCGCCCTAGCA GTGTGACCTGGGTGAGCCCTTTCCCTCTGTGGGCTCTCAAGTTTCTCAGG GGTAAAATGAGGGAGATGTGGAGTGAGTGAGCCCTAGAGTCTCTTCCAGT TCTGACACCCTGCAAGTATCTCAGCCCAAGGGCTACATGGCTGTTCTGAA TATTATTCTCCCTTAGTTCAACTCCACTTCAACTTCACCACAGTCCAGGG CTCCAGGCTCCTCCAAGTGGCAGAGGAGGAAGATCTGGTGAATGTTTCAC TAACACTGACTCTGGGCTGAAGGCAGGTGGTGGAGTCCCTTTGTAAAAGA GAAAGGCGGGCCGGGCGCGGTGGCTCACACAGTAATCCCAGCACTTTGGG AGCTTGAGGTGGGAGGATCACAAGGTCAGGAGTTCAAGACCAGCCTTTCC AACATGGTGAAACCCCGTCTCTACTCAAAATACAAAAATTAGCCAGGCTT GGTGGCACGTGCTTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGAA TGGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAACTGAGACCATGCCACT GCACCCCAGCCTGGGCGACAGGGTGAGACTCTGTCTCTAAATAAATAAAT TAAATTAAATTAAATTAAAGAAATAGGCCAGCCGTGGTGGCTCACTCCTG TAATCCCAGCACTCTGAGAGGCTGACGTGGGAAGACTGCGTGAGTCCAGG AGTTTGAGACCAGCCTGGGTAACAAAGTGAGATCTCGTCTCTAAAAATAT ATATCCATAGGCCGGACTCGGTGGTTCACGCCTGTAATCCCAGCACTTTT GGAGGCCAAGGTCGGCGGATCACTTGAGGTCAGTTCGAGACCAGCCTGGC CGACGTGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGC GTGGTGGGGCAGGTGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCACA AGGATTGCTTGAACCCGGGAGGTGGAAGCTCCAATGAGCCAACATTGCAC CACTGTACTGCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAATAA ATAAATAAATAAATAAATAAATAAAATACATACATACATATAAATAAATA CAATAAAAAAGAGAAATAGGAGAGGGGAAGAGAGACTCATGCAGTGACTC CCATGGCAGAACTTTGAGTTGCAGTGATGGATGAGAGCCATGCATCCCTG AATCCTAATGATGGCCTGGCTTTCCAGCTCTGCTGCTTCTGGCTCCGCCC CCTTCCCCATGACTCTGTTCTGTGATAATCAGCATCTTGGACAAGCAGAG GCAGACCGCGAACACTGGAGCCCAGGACTTAGAGCTCCTGCTTTCTCAGC CAAGGACTCCCTAAGCTTTGGAGGAACCTGCCTTCACCTGCCCCTGGAAT GTCCTGGGCAGTGGGAGAGACAGGCCAGTAAGATGAGTAATTCTGTTCAC CAAATGGTCCCTTCCAGACTAGCTTACATGTAAGACTCAGAAAAATCCAG ATTTTCATTTGTGGGGTTACATCGAGCAGGTCCCCCTGAGAACTCCAATC CTCAGGGCACTCCTCTCTCTGGGCCCCTTTCTCTGGTACTCCCCTGACCC CCCTAATCCAACCAAATAGGCCTTTCTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0341 a0002c0002t0002g0341	1	418	0.0024	-2044	c.-23 others(16): Show c.-23-2316_-23-273del	CCDC92B	ENSG00000277200.2	transcript	ENST00000614400.2	protein_coding	1/3				chr17	TogoVar
MAGEA4_chrX_151907889_151930170	151913961	CCGCCATC others(2037): Show CCGCCATCTCCCACCCCAACAACCCGGGCCCTTCTACCAACCTCACCCCT CCCACCCCCATCCACACTGAATCACGTTCCGCTTCCGCTTTCAACCCACC CCCAAAAACCCGCCCCCTCCATCGACCTCACCCCTCCCACCCCCATCCAC GCTGAATCTGATTTCCGCTTCCTCTTTCAACCCAAGAAAGCCCCAGGGGC CCGGATGTGATGCCACTGACTTGCGCATTGGGGGTTAGAGAGAAGCGAGC TGCTCTGTCTGACCAGCAGCTTGGGATTGGCGGAGGGAAGCGGGCCAGGC CCTGTGAGGAGTCAAGGTGAGACGCTGAGGGAGGACTCAGGAGGCCCCCA CCCCAGATAGACGACCCCAAATAATCCCGCACCACTCCTGCTACCAGCCG TGGGCCACCCGTGGGCGGACTTCTGAGTCTGGGGCGCCCTCCACCCCACT GCGTCTGAAGTCGCATGGGACTCTGGAGTCCGAGCTTGGGGTGGTTAGTG TAAGACTAGTGAGGGCAGGCTCTACGAGGCATCAACCTCAGGACCCTAAG AGAGGGCCAAGCGTACCCCACCCCTATTTCTATCCCCCACCGCCTCCCCT TTCCCATTACTATTTGCACTCCCAAACCCATCCGCGCCCCTATCCCCCAC CAGCACTCCTATCCTCAACCCCGCACCTCTCTCACACCGCCATCTCCCAC CCCAAAAACTGGGGCCCCTCCACCAACCTCACCCCTCCCACCCCCATGGA TGCTGAATTGGGTTGCGCTTCCGCTTTCAACCCACCCCCAAAAACCCGCC CCCTCCACCGACCTCACCCCTCCCACCCCCTTCCACGCTGAATCGGGTTT CCGCTTCCGCTTTCAACCCAAGAAAGTCCCAGGTGCCCGGATGTGATGCC ACTGACTTGCGCATTGGGGGTTAGAGAGAAGCGAGCTGCTCTGACCAGCC GCTTGGGATTGGCGGAGGGAAGCGGGCCAGGCCCTGTGAGGAGTCAAGGT GAGATGCTGAGGGAGGACTCAGGAGGCCCCCACCCCAGATAGACGACCCC AAATAATCCCGCACCACTCCTGCTACCAGCCGTGGGCCACCTGTGGGCGG ACTTCTGAGTCTGGGGCGCCCACCACCCCACTGCCTCTGAAGTCGCAGAG GACTCTGGAGTCAGAGCTTAGGGTGTTTAGTGTAAGACTAGTGAGGCCAG GCTCTGCCAGGCATCAATCTCAGGACCGTAAGAGAGGGCTAAGCGTACCC CACCCCTATTCCCATCCCCCATCACGTCCCCTTTCCCATTACCATTTGCA CTCCTAAACCCATCCGCGCCCCCATCCCCCACCAGCACTCCTCCTCGACC CCCCACCTCTGTCATACCGCCATCTGCCACCCCAAAAACCGGGGCCCCTC CACCAACCTCACCCCTCCCACCCCCATCCACGCTGAATCGGGTTCCGCTT CCGCTTTCAACCCACTCCCAAAAACCCGCCCCCTCCACCGACCTCCCCCC CACCCCCATCCACGCTGAATCGTGTTTCCGCTTCCGCTTTCAACCCAAGA AAGCCTCAGGGGCCCGGATGTGATGCCACTGACTTGCGCATTGGGGGTTA GAGAGAAGCGAGCTGCTGTCTGACCAGCAGCTTGGGATTGGTGGAAGGAA GCAGGCCAGGCCCTGTGAGGAGTCAAGGTGAGACGCTGAGGAGGACTCAG GAGGCCACCACCCCAGATAGACGACCCCAAATAATCCTGCACCACTCCTA CCTGCCGTGGGCCACCTGTGGGCGGACTTCTGAGCTTGGGGCGCCCACCA CCCCACTGCCTCTGAAGTCGCAGGGGACTCTGGAGTCAGAGCTTGGGGTG TTTAGTGTAAGACTAGTGAGGCCAGGCTCTGCCGGGCATCAATCTCAGGA CCCTAAGAGAGGGCTAAGCGTACCCCACCCCTATTCCCATCCCCCACCAC GTCCCCTTTCCCATTACCATTTGCACTCCCAAACCATCCACGCCCCATCC CCCACCAGCACTCCTCTCCTCTTCAACCCCCCACCTCTCTCATAT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03239.hp1 HG03491.hp2 others(1): Show HG02735.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0010 a0002c0001t0002g0010	4	344	0.0116	-2044	c.-13 others(19): Show c.-138+1025_-138+3068del	MAGEA4	ENSG00000147381.12	transcript	ENST00000276344.6	protein_coding	1/2			INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEA4_chrX_151907889_151930170	151913994	CTACCAAC others(2037): Show CTACCAACCTCACCCCTCCCACCCCCATCCACACTGAATCACGTTCCGCT TCCGCTTTCAACCCACCCCCAAAAACCCGCCCCCTCCATCGACCTCACCC CTCCCACCCCCATCCACGCTGAATCTGATTTCCGCTTCCTCTTTCAACCC AAGAAAGCCCCAGGGGCCCGGATGTGATGCCACTGACTTGCGCATTGGGG GTTAGAGAGAAGCGAGCTGCTCTGTCTGACCAGCAGCTTGGGATTGGCGG AGGGAAGCGGGCCAGGCCCTGTGAGGAGTCAAGGTGAGACGCTGAGGGAG GACTCAGGAGGCCCCCACCCCAGATAGACGACCCCAAATAATCCCGCACC ACTCCTGCTACCAGCCGTGGGCCACCCGTGGGCGGACTTCTGAGTCTGGG GCGCCCTCCACCCCACTGCGTCTGAAGTCGCATGGGACTCTGGAGTCCGA GCTTGGGGTGGTTAGTGTAAGACTAGTGAGGGCAGGCTCTACGAGGCATC AACCTCAGGACCCTAAGAGAGGGCCAAGCGTACCCCACCCCTATTTCTAT CCCCCACCGCCTCCCCTTTCCCATTACTATTTGCACTCCCAAACCCATCC GCGCCCCTATCCCCCACCAGCACTCCTATCCTCAACCCCGCACCTCTCTC ACACCGCCATCTCCCACCCCAAAAACTGGGGCCCCTCCACCAACCTCACC CCTCCCACCCCCATGGATGCTGAATTGGGTTGCGCTTCCGCTTTCAACCC ACCCCCAAAAACCCGCCCCCTCCACCGACCTCACCCCTCCCACCCCCTTC CACGCTGAATCGGGTTTCCGCTTCCGCTTTCAACCCAAGAAAGTCCCAGG TGCCCGGATGTGATGCCACTGACTTGCGCATTGGGGGTTAGAGAGAAGCG AGCTGCTCTGACCAGCCGCTTGGGATTGGCGGAGGGAAGCGGGCCAGGCC CTGTGAGGAGTCAAGGTGAGATGCTGAGGGAGGACTCAGGAGGCCCCCAC CCCAGATAGACGACCCCAAATAATCCCGCACCACTCCTGCTACCAGCCGT GGGCCACCTGTGGGCGGACTTCTGAGTCTGGGGCGCCCACCACCCCACTG CCTCTGAAGTCGCAGAGGACTCTGGAGTCAGAGCTTAGGGTGTTTAGTGT AAGACTAGTGAGGCCAGGCTCTGCCAGGCATCAATCTCAGGACCGTAAGA GAGGGCTAAGCGTACCCCACCCCTATTCCCATCCCCCATCACGTCCCCTT TCCCATTACCATTTGCACTCCTAAACCCATCCGCGCCCCCATCCCCCACC AGCACTCCTCCTCGACCCCCCACCTCTGTCATACCGCCATCTGCCACCCC AAAAACCGGGGCCCCTCCACCAACCTCACCCCTCCCACCCCCATCCACGC TGAATCGGGTTCCGCTTCCGCTTTCAACCCACTCCCAAAAACCCGCCCCC TCCACCGACCTCCCCCCCACCCCCATCCACGCTGAATCGTGTTTCCGCTT CCGCTTTCAACCCAAGAAAGCCTCAGGGGCCCGGATGTGATGCCACTGAC TTGCGCATTGGGGGTTAGAGAGAAGCGAGCTGCTGTCTGACCAGCAGCTT GGGATTGGTGGAAGGAAGCAGGCCAGGCCCTGTGAGGAGTCAAGGTGAGA CGCTGAGGAGGACTCAGGAGGCCACCACCCCAGATAGACGACCCCAAATA ATCCTGCACCACTCCTACCTGCCGTGGGCCACCTGTGGGCGGACTTCTGA GCTTGGGGCGCCCACCACCCCACTGCCTCTGAAGTCGCAGGGGACTCTGG AGTCAGAGCTTGGGGTGTTTAGTGTAAGACTAGTGAGGCCAGGCTCTGCC GGGCATCAATCTCAGGACCCTAAGAGAGGGCTAAGCGTACCCCACCCCTA TTCCCATCCCCCACCACGTCCCCTTTCCCATTACCATTTGCACTCCCAAA CCATCCACGCCCCATCCCCCACCAGCACTCCTCTCCTCTTCAACCCCCCA CCTCTCTCATATCGCCATCTCCCACCCCAACAACCCGGGCCCTTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02027.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02809.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19059.hp1 NA19059.hp2 NA19064.hp2 NA19068.hp1 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0002 a0001c0003 a0001c0004 others(10): Show a0001c0002 a0001c0003 a0001c0004 a0001c0011 a0002c0001 a0002c0006 a0002c0012 a0003c0007 a0003c0018 a0004c0005 a0005c0008 a0006c0010 a0007c0013	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 others(17): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0002 a0001c0003t0003 a0001c0004t0002 a0001c0011t0002 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0001t0007 a0002c0006t0002 a0002c0006t0006 a0002c0012t0002 a0003c0007t0002 a0003c0018t0002 a0004c0005t0002 a0005c0008t0002 a0006c0010t0002 a0007c0013t0002	a0001c0002t0002g0001 a0001c0002t0002g0036 a0001c0002t0002g0038 others(60): Show a0001c0002t0002g0001 a0001c0002t0002g0036 a0001c0002t0002g0038 a0001c0002t0003g0053 a0001c0002t0004g0045 a0001c0003t0002g0007 a0001c0003t0002g0014 a0001c0003t0002g0017 a0001c0003t0002g0126 a0001c0003t0003g0049 a0001c0004t0002g0001 a0001c0004t0002g0005 a0001c0011t0002g0096 a0002c0001t0001g0004 a0002c0001t0002g0001 a0002c0001t0002g0005 a0002c0001t0002g0026 a0002c0001t0002g0027 a0002c0001t0002g0040 a0002c0001t0002g0042 a0002c0001t0002g0047 a0002c0001t0002g0080 a0002c0001t0002g0081 a0002c0001t0002g0082 a0002c0001t0002g0086 a0002c0001t0002g0087 a0002c0001t0002g0088 a0002c0001t0002g0089 a0002c0001t0002g0090 a0002c0001t0002g0091 a0002c0001t0002g0093 a0002c0001t0002g0094 a0002c0001t0002g0095 a0002c0001t0002g0097 a0002c0001t0002g0098 a0002c0001t0002g0099 a0002c0001t0002g0102 a0002c0001t0002g0104 a0002c0001t0002g0105 a0002c0001t0002g0106 a0002c0001t0002g0110 a0002c0001t0002g0112 a0002c0001t0002g0114 a0002c0001t0002g0115 a0002c0001t0002g0116 a0002c0001t0002g0117 a0002c0001t0002g0118 a0002c0001t0005g0004 a0002c0001t0007g0001 a0002c0006t0002g0001 a0002c0006t0006g0050 a0002c0012t0002g0092 a0003c0007t0002g0015 a0003c0007t0002g0037 a0003c0018t0002g0034 a0004c0005t0002g0013 a0004c0005t0002g0048 a0004c0005t0002g0109 a0005c0008t0002g0028 a0005c0008t0002g0030 a0005c0008t0002g0031 a0006c0010t0002g0032 a0007c0013t0002g0085	154	344	0.4477	-2044	c.-13 others(19): Show c.-138+2713_-138+4756del	MAGEA4	ENSG00000147381.12	transcript	ENST00000276344.6	protein_coding	1/2			INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEA4_chrX_151907889_151930170	151915682	CGACCCCA others(2037): Show CGACCCCAAATAATCCTGCACCACTCCTACCTGCCGTGGGCCACCTGTGG GCGGACTTCTGAGCTTGGGGCGCCCACCACCCCACTGCCTCTGAAGTCGC AGGGGACTCTGGAGTCAGAGCTTGGGGTGTTTAGTGTAAGACTAGTGAGG CCAGGCTCTGCCGGGCATCAATCTCAGGACCCTAAGAGAGGGCTAAGCGT ACCCCACCCCTATTCCCATCCCCCACCACGTCCCCTTTCCCATTACCATT TGCACTCCCAAACCATCCACGCCCCATCCCCCACCAGCACTCCTCTCCTC TTCAACCCCCCACCTCTCTCATATCGCCATCTCCCACCCCAACAACCCGG GCCCTTGTACCAACCTCACCCCTCCCACCCCCATCCACACTGAATCACGT TCCGCTTCCGCTTTCAACCCACCCCCAAAAACCCGCCCCCTCCATCGACC TCACCCCTCCCACCCCCATCCACGCTGAATCTGATTTCCGCTTCCTCTTT CAACCCAAGAAAGCCCCAGGGGCCCGGATGTGATGCCACTGACTTGCGCA TTGGGGGTTAGAGAGAAGCGAGCTGCTCTGTCTGACCAGCAGCTTGGGAT TGGCGGAGGGAAGCGGGCCAGGCCCTGTGAGGAGTCAAGGTGAGACGCTG AGGGAGGACTCAGGAGGCCCCCACCCCAGATAGACGACCCCAAATAATCC CGCACCACTCCTGCTACCAGCCGTGGGCCACCCGTGGGCGGACTTCTGAG TCTGGGGCGCCCTCCACCCCACTGCGTCTGAAGTCGCATGGGACTCTGGA GTCCGAGCTTGGGGTGGTTAGTGTAAGACTAGTGAGGGCAGGCTCTACGA GGCATCAACCTCAGGACCCTAAGAGAGGGCCAAGCGTACCCCACCCCTAT TTCTATCCCCCACCGCCTCCCCTTTCCCATTACTATTTGCACTCCCAAAC CCATCCGCGCCCCTATCCCCCACCAGCACTCCTATCCTCAACCCCGCACC TCTCTCACACCGCCATCTCCCACCCCAAAAACTGGGGCCCCTCCACCAAC CTCACCCCTCCCACCCCCATGGATGCTGAATTGGGTTGCGCTTCCGCTTT CAACCCACCCCCAAAAACCCGCCCCCTCCACCGACCTCACCCCTCCCACC CCCTTCCACGCTGAATCGGGTTTCCGCTTCCGCTTTCAACCCAAGAAAGT CCCAGGTGCCCGGATGTGATGCCACTGACTTGCGCATTGGGGGTTAGAGA GAAGCGAGCTGCTCTGACCAGCCGCTTGGGATTGGCGGAGGGAAGCGGGC CAGGCCCTGTGAGGAGTCAAGGTGAGATGCTGAGGGAGGACTCAGGAGGC CCCCACCCCAGATAGACGACCCCAAATAATCCCGCACCACTCCTGCTACC AGCCGTGGGCCACCTGTGGGCGGACTTCTGAGTCTGGGGCGCCCACCACC CCACTGCCTCTGAAGTCGCAGAGGACTCTGGAGTCAGAGCTTAGGGTGTT TAGTGTAAGACTAGTGAGGCCAGGCTCTGCCAGGCATCAATCTCAGGACC GTAAGAGAGGGCTAAGCGTACCCCACCCCTATTCCCATCCCCCATCACGT CCCCTTTCCCATTACCATTTGCACTCCTAAACCCATCCGCGCCCCCATCC CCCACCAGCACTCCTCCTCGACCCCCCACCTCTGTCATACCGCCATCTGC CACCCCAAAAACCGGGGCCCCTCCACCAACCTCACCCCTCCCACCCCCAT CCACGCTGAATCGGGTTCCGCTTCCGCTTTCAACCCACTCCCAAAAACCC GCCCCCTCCACCGACCTCCCCCCCACCCCCATCCACGCTGAATCGTGTTT CCGCTTCCGCTTTCAACCCAAGAAAGCCTCAGGGGCCCGGATGTGATGCC ACTGACTTGCGCATTGGGGGTTAGAGAGAAGCGAGCTGCTGTCTGACCAG CAGCTTGGGATTGGTGGAAGGAAGCAGGCCAGGCCCTGTGAGGAGTCAAG GTGAGACGCTGAGGAGGACTCAGGAGGCCACCACCCCAGATAGAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(166): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19072.hp1 NA19078.hp1 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0009 a0010	a0001c0002 a0001c0004 a0001c0009 others(6): Show a0001c0002 a0001c0004 a0001c0009 a0001c0016 a0002c0001 a0002c0006 a0008c0014 a0009c0015 a0010c0017	a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 others(9): Show a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 a0001c0004t0002 a0001c0009t0001 a0001c0016t0001 a0002c0001t0001 a0002c0001t0002 a0002c0006t0001 a0008c0014t0001 a0009c0015t0001 a0010c0017t0001	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0011 others(60): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0029 a0001c0002t0001g0041 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0103 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0120 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0003g0003 a0001c0004t0001g0006 a0001c0004t0001g0008 a0001c0004t0001g0124 a0001c0004t0001g0125 a0001c0004t0002g0055 a0001c0009t0001g0021 a0001c0016t0001g0003 a0002c0001t0001g0006 a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0022 a0002c0001t0002g0023 a0002c0001t0002g0111 a0002c0006t0001g0025 a0002c0006t0001g0065 a0008c0014t0001g0121 a0009c0015t0001g0002 a0010c0017t0001g0002	169	344	0.4913	-2044	c.-13 others(19): Show c.-138+2729_-138+4772del	MAGEA4	ENSG00000147381.12	transcript	ENST00000276344.6	protein_coding	1/2			INFO_REALIGN_3_PRIME	chrX	TogoVar
RETREG2_chr2_219173275_219190475	219188431	AAAAAAAA others(2037): Show AAAAAAAAAAAAAAAAGTATTCTGAGATTTGACGCTGGCCTGTCTTTACA GCAACAGCAAACCCCAAACAGCTTGTCCTCCCCACTGCTCAGTTGTGCTG CCCTCCCCCACCTCTGCTCTACACACACACCCCCTATCCCTTCACTTGGC AAATGTCTCACTTACCTTTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTTTTGAGATGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCATAATCTTCAGCTCACTGCAACCTCCAC CTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCTCACACCACCATGCCCAGTTAATTTTTTTGTATTTTTAGTAGA GACATGGTTTCATCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAA ATGATCCACCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAATCGAGAGC TACCATGCCCGACTTTCACTTATCTTTTAAGATGCACTTCAGGCCACACC TCATCTACCAATGTCCCCTGATATCCCTCACCATGCCACCCCCCACCCCA ATGTCAGTCCCACTCTCCTAGTGCTTTTGTAGTCTATTGGGCATACTTCT GTTTTCCCACTTACCACAGGGAATCCTTATACCCTCTCTGAAAGTATGTG GATATAGAGTATATAGGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTATACAGATACATATATACGTATGTATACCCGCCACAATACTGCTTA TTCTTGAAGGCAGAGACAATGTCTTATCATCTGAATATCCTCAAAGCCTA GCATAGTGTCTGGCACATAGTAGGTGCTCAAAAAATGCGTGTTAGACTAA ATTGAACTAATACTAGAGTAACCAGTTATAGATTTTGAAGCAACTAGTGA AAAGAGTTTGGTGACTGATACATGGCTATGTTATTGATGCATGCCTTTGC TTGTCCATTACTGTTCTAGAGGGAATAGTAGCTAGGTTAAAATAATCGGC AGATAGACTTGTGAGTTCTTTTTCCCTGGACTAGGTTAAAGGCAATTCAA ACAATCTAGAGCTGGAGATTCGTATTTGCTGGTTTGGGAGCGGGGTTTTC TGAGTTTAAGGTAAGATTGCCCAACTAGCTTGATCTTCTGTGATTGCATC AAATTATTATGTTGTTTGGAAAACAATTTTGGATTTAGACTCTTTTTTGA GACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAGCTGTAAGGTCATA GCTCACTGCAGCCTTAAACTCCTGGGCTCAAGTGACCCCTTTGCCCCAGC CTCCCGAGTAGCTGGGACTACAGGTGCCCACTACCATGCCCAGCTAATTT TTTGTTTGTTTTGAGACAGAATTTCACTCTTGTTGCATAGGCTGGAGTGA AATGGTGCAATCTCAGCTCACCGCAAACTCCACCTCCCGGGTTCAAGTGA TTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGCACCACC ACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTG GTAAGGCAGGTCTCAAACTCCCGACCTCAGGTGATCCACCTGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCAGCTA ATTTTTAAAGTATCTTTTAGAGACAAGGTCTTGCTTTGTTGCCCAGGCTG GTCTCAAATTCTTGACTTCAAACAATCTTCCCACCACAGCCTCCTGAGAA GCTAGGATTACAGGCATGAGCCACTGCACCTGTGATATGGTTTGGTTGTG TCCTCACCCAAATCTCTCACCCTTTAGGAAATGACTAGATCATGAAAGCT CCACCCTCATAAATGGGATTAGTTGGCTAGGCATCGTGGCTCACCCCTGT AATCCCAGTACTTTGGGAGGCCAAGGCCAGTAGATCACTTGAGGTCAGGA ATTCGAGACCAGCCTGGCCAACATGGTGAAACTTGGTAGGCAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(127): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00609.hp1 HG00639.hp2 HG00733.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02132.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02965.hp2 HG02970.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp2 NA19055.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19070.hp2 NA19082.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0001 a0005c0007 a0001c0002 a0002c0001 a0005c0007	a0001c0002t0038 a0001c0002t0039 a0002c0001t0001 others(14): Show a0001c0002t0038 a0001c0002t0039 a0002c0001t0001 a0002c0001t0005 a0002c0001t0010 a0002c0001t0023 a0002c0001t0025 a0002c0001t0041 a0002c0001t0042 a0002c0001t0043 a0002c0001t0044 a0002c0001t0045 a0002c0001t0047 a0002c0001t0048 a0002c0001t0049 a0005c0007t0001 a0005c0007t0005	a0001c0002t0038g0001 a0001c0002t0039g0001 a0002c0001t0001g0001 others(22): Show a0001c0002t0038g0001 a0001c0002t0039g0001 a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0003 a0002c0001t0001g0004 a0002c0001t0001g0010 a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0001t0005g0002 a0002c0001t0005g0012 a0002c0001t0005g0015 a0002c0001t0010g0002 a0002c0001t0023g0002 a0002c0001t0025g0002 a0002c0001t0041g0019 a0002c0001t0042g0002 a0002c0001t0043g0002 a0002c0001t0044g0002 a0002c0001t0045g0002 a0002c0001t0047g0002 a0002c0001t0048g0002 a0002c0001t0049g0002 a0005c0007t0001g0002 a0005c0007t0005g0002	130	430	0.3023	-2044	c.58 others(11): Show c.5803_*7846del	RETREG2	ENSG00000144567.11	transcript	ENST00000430297.7	protein_coding			2957		chr2	TogoVar
RETREG2_chr2_219173275_219190475	219188432	AAAAAAAA others(2036): Show AAAAAAAAAAAAAAAGTATTCTGAGATTTGACGCTGGCCTGTCTTTACAG CAACAGCAAACCCCAAACAGCTTGTCCTCCCCACTGCTCAGTTGTGCTGC CCTCCCCCACCTCTGCTCTACACACACACCCCCTATCCCTTCACTTGGCA AATGTCTCACTTACCTTTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTTTTGAGATGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCATAATCTTCAGCTCACTGCAACCTCCACC TTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCTCACACCACCATGCCCAGTTAATTTTTTTGTATTTTTAGTAGAG ACATGGTTTCATCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAAA TGATCCACCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAATCGAGAGCT ACCATGCCCGACTTTCACTTATCTTTTAAGATGCACTTCAGGCCACACCT CATCTACCAATGTCCCCTGATATCCCTCACCATGCCACCCCCCACCCCAA TGTCAGTCCCACTCTCCTAGTGCTTTTGTAGTCTATTGGGCATACTTCTG TTTTCCCACTTACCACAGGGAATCCTTATACCCTCTCTGAAAGTATGTGG ATATAGAGTATATAGGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTATACAGATACATATATACGTATGTATACCCGCCACAATACTGCTTAT TCTTGAAGGCAGAGACAATGTCTTATCATCTGAATATCCTCAAAGCCTAG CATAGTGTCTGGCACATAGTAGGTGCTCAAAAAATGCGTGTTAGACTAAA TTGAACTAATACTAGAGTAACCAGTTATAGATTTTGAAGCAACTAGTGAA AAGAGTTTGGTGACTGATACATGGCTATGTTATTGATGCATGCCTTTGCT TGTCCATTACTGTTCTAGAGGGAATAGTAGCTAGGTTAAAATAATCGGCA GATAGACTTGTGAGTTCTTTTTCCCTGGACTAGGTTAAAGGCAATTCAAA CAATCTAGAGCTGGAGATTCGTATTTGCTGGTTTGGGAGCGGGGTTTTCT GAGTTTAAGGTAAGATTGCCCAACTAGCTTGATCTTCTGTGATTGCATCA AATTATTATGTTGTTTGGAAAACAATTTTGGATTTAGACTCTTTTTTGAG ACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAGCTGTAAGGTCATAG CTCACTGCAGCCTTAAACTCCTGGGCTCAAGTGACCCCTTTGCCCCAGCC TCCCGAGTAGCTGGGACTACAGGTGCCCACTACCATGCCCAGCTAATTTT TTGTTTGTTTTGAGACAGAATTTCACTCTTGTTGCATAGGCTGGAGTGAA ATGGTGCAATCTCAGCTCACCGCAAACTCCACCTCCCGGGTTCAAGTGAT TCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGCACCACCA CACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGG TAAGGCAGGTCTCAAACTCCCGACCTCAGGTGATCCACCTGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCAGCTAA TTTTTAAAGTATCTTTTAGAGACAAGGTCTTGCTTTGTTGCCCAGGCTGG TCTCAAATTCTTGACTTCAAACAATCTTCCCACCACAGCCTCCTGAGAAG CTAGGATTACAGGCATGAGCCACTGCACCTGTGATATGGTTTGGTTGTGT CCTCACCCAAATCTCTCACCCTTTAGGAAATGACTAGATCATGAAAGCTC CACCCTCATAAATGGGATTAGTTGGCTAGGCATCGTGGCTCACCCCTGTA ATCCCAGTACTTTGGGAGGCCAAGGCCAGTAGATCACTTGAGGTCAGGAA TTCGAGACCAGCCTGGCCAACATGGTGAAACTTGGTAGGCAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01168.hp1 HG01192.hp1 others(6): Show HG00558.hp2 HG01168.hp1 HG01192.hp1 HG02145.hp2 HG03516.hp2 HG03831.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2	a0002 a0009 a0002 a0009	a0002c0001 a0009c0016 a0002c0001 a0009c0016	a0002c0001t0001 a0002c0001t0005 a0009c0016t0005 a0002c0001t0001 a0002c0001t0005 a0009c0016t0005	a0002c0001t0001g0002 a0002c0001t0005g0002 a0002c0001t0005g0010 others(1): Show a0002c0001t0001g0002 a0002c0001t0005g0002 a0002c0001t0005g0010 a0009c0016t0005g0002	9	430	0.0209	-2043	c.58 others(11): Show c.5804_*7846del	RETREG2	ENSG00000144567.11	transcript	ENST00000430297.7	protein_coding			2958		chr2	TogoVar
MAGEA4_chrX_151907889_151930170	151914676	CCCTCCAC others(2035): Show CCCTCCACCAACCTCACCCCTCCCACCCCCATGGATGCTGAATTGGGTTG CGCTTCCGCTTTCAACCCACCCCCAAAAACCCGCCCCCTCCACCGACCTC ACCCCTCCCACCCCCTTCCACGCTGAATCGGGTTTCCGCTTCCGCTTTCA ACCCAAGAAAGTCCCAGGTGCCCGGATGTGATGCCACTGACTTGCGCATT GGGGGTTAGAGAGAAGCGAGCTGCTCTGACCAGCCGCTTGGGATTGGCGG AGGGAAGCGGGCCAGGCCCTGTGAGGAGTCAAGGTGAGATGCTGAGGGAG GACTCAGGAGGCCCCCACCCCAGATAGACGACCCCAAATAATCCCGCACC ACTCCTGCTACCAGCCGTGGGCCACCTGTGGGCGGACTTCTGAGTCTGGG GCGCCCACCACCCCACTGCCTCTGAAGTCGCAGAGGACTCTGGAGTCAGA GCTTAGGGTGTTTAGTGTAAGACTAGTGAGGCCAGGCTCTGCCAGGCATC AATCTCAGGACCGTAAGAGAGGGCTAAGCGTACCCCACCCCTATTCCCAT CCCCCATCACGTCCCCTTTCCCATTACCATTTGCACTCCTAAACCCATCC GCGCCCCCATCCCCCACCAGCACTCCTCCTCGACCCCCCACCTCTGTCAT ACCGCCATCTGCCACCCCAAAAACCGGGGCCCCTCCACCAACCTCACCCC TCCCACCCCCATCCACGCTGAATCGGGTTCCGCTTCCGCTTTCAACCCAC TCCCAAAAACCCGCCCCCTCCACCGACCTCCCCCCCACCCCCATCCACGC TGAATCGTGTTTCCGCTTCCGCTTTCAACCCAAGAAAGCCTCAGGGGCCC GGATGTGATGCCACTGACTTGCGCATTGGGGGTTAGAGAGAAGCGAGCTG CTGTCTGACCAGCAGCTTGGGATTGGTGGAAGGAAGCAGGCCAGGCCCTG TGAGGAGTCAAGGTGAGACGCTGAGGAGGACTCAGGAGGCCACCACCCCA GATAGACGACCCCAAATAATCCTGCACCACTCCTACCTGCCGTGGGCCAC CTGTGGGCGGACTTCTGAGCTTGGGGCGCCCACCACCCCACTGCCTCTGA AGTCGCAGGGGACTCTGGAGTCAGAGCTTGGGGTGTTTAGTGTAAGACTA GTGAGGCCAGGCTCTGCCGGGCATCAATCTCAGGACCCTAAGAGAGGGCT AAGCGTACCCCACCCCTATTCCCATCCCCCACCACGTCCCCTTTCCCATT ACCATTTGCACTCCCAAACCATCCACGCCCCATCCCCCACCAGCACTCCT CTCCTCTTCAACCCCCCACCTCTCTCATATCGCCATCTCCCACCCCAACA ACCCGGGCCCTTGTACCAACCTCACCCCTCCCACCCCCATCCACACTGAA TCACGTTCCGCTTCCGCTTTCAACCCACCCCCAAAAACCCGCCCCCTCCA TCGACCTCACCCCTCCCACCCCCATCCACGCTGAATCTGATTTCCGCTTC CTCTTTCAACCCAAGAAAGCCCCAGGGGCCCGGATGTGATGCCACTGACT TGCGCATTGGGGGTTAGAGAGAAGCGAGCTGCTCTGTCTGACCAGCAGCT TGGGATTGGCGGAGGGAAGCGGGCCAGGCCCTGTGAGGAGTCAAGGTGAG ACGCTGAGGGAGGACTCAGGAGGCCCCCACCCCAGATAGACGACCCCAAA TAATCCCGCACCACTCCTGCTACCAGCCGTGGGCCACCCGTGGGCGGACT TCTGAGTCTGGGGCGCCCTCCACCCCACTGCGTCTGAAGTCGCATGGGAC TCTGGAGTCCGAGCTTGGGGTGGTTAGTGTAAGACTAGTGAGGGCAGGCT CTACGAGGCATCAACCTCAGGACCCTAAGAGAGGGCCAAGCGTACCCCAC CCCTATTTCTATCCCCCACCGCCTCCCCTTTCCCATTACTATTTGCACTC CCAAACCCATCCGCGCCCCTATCCCCCACCAGCACTCCTATCCTCAACCC CGCACCTCTCTCACACCGCCATCTCCCACCCCAAAAACTGGGG	C C	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0127 a0002c0001t0002g0127	1	344	0.0029	-2042	c.-13 others(19): Show c.-138+1710_-138+3751del	MAGEA4	ENSG00000147381.12	transcript	ENST00000276344.6	protein_coding	1/2			INFO_REALIGN_3_PRIME	chrX	TogoVar
FAM149A_chr4_186099704_186180337	186173694	CAGCAGCA others(2034): Show CAGCAGCAGCAGCAGCAGCAGCAGCGACCACCAGGTCCATGCCTCTTTTC CGTGGTCACAGCTCCATGTGTCCGGGGAAGATTGCTAATGCTTAGTTTCC TGCACAAAGCAAACCAAAGCATTTTTGAGAATTTTCTACATTATTCCTAA ACATTAGCAATAGAAACTTTTAAGAGCAAATGCCAGTCTTAATTCAGCAG CTCTCCCACTTGAGGAATAGTTAGATATGTGAGTAGCCTGGAGCCCATGT TATAGGGCTGCTGGTTAGGTGCTCTCTGGTGCATCATTACTGCTCAAAGC ATGACCCACTTGCTCTTTCAGATCCACTCAGGGTATTTTATGTCCATTTC CAGGAACCATCCAACTCCTTCCCTATTCAGTCCAAACTTCCTTTTTTTTT TTTTTTACTTGAAGTTCAGGGGTACATGTGCAGGTTGTTACATAGGTAAA CTTGTGTCGTGGGAGTTTGTTGTACAGATTATCACCCAGGTATTAAGCCT AGTATCCATTAGTTATTTTTCCTGATCCTCTCCCTCCTTCCACCCTCCAC CCTTTGATAGGCCCTAGTGTGTGCTGTTCCCCTCTGTGTCCATGTGTTCT CATCATTTAGCTCCCACTTAGAAGTGAGAACGGATGGCATTTGTTTTTCT GTTTCTGCATTAGTTTGCTAAGGATAATGACTTCCAGCTCCAGCCATGCC TCTGCAAAGGACATAATCTCATTCTTTTTTATGAGCTCAAGCTTCGTAGT AGGGAAAACACCGGATATTCAGTCTAAACTAACATTAAGGTAGGGTATCC AAGATAAAATGTTTTTTCTTTGAAAACCACTGAATATACTTTATGGTAGC TTTACCTTGTTTGGCTCCAGAGGTTTGCAAATAAGAATCTATTATTTATA TATATATATTGGTAAAAGACAAAATATTTTTTAAAAAGTGATCTTGAGTC TTCTAAACATTAAATTGGAAGATAAAGTGCCATTTTAGAGATTACATAGA GACTTGGCCCTGTCATTGATTTTAAAAATGACCTTCTCATTGCACTGATT TTTACTCCATGTTAAAGTTAGTATTTTATTTATACATTAAATTAGATTTA GAGATTAGTAAATAATGCTTATATCAAGGATGGTGCTTTTTAAGCTAATT AGGTAAAAATTAGGGCAGTGTTTTATAATCTACTTTAATAAATGAGTCTT ACCTTAGAATTAATCTATTAAAAATTAAAAAAGAAAAATTGAACTACTTC TGAGATAGATTTTTAAATTCAGATTAGTGAATTTTACACTAATTGAATTA CATTAATTAAAATGCCTGTTAGTTTATCCAAAACCAAAGAAAGAATGAAG AAATTTTAAAACAATCTAAGAAAATGTAAAATACCATAGAAAACTGCTAG ATTTTGTGAATTTAATATAAAAGGAAGTATCCATATTGATATTATTCTGA ACTAGATGGAATTTCTACACCAATTCAGAAGTACGTTTTTATATATCATT TGGATATTATATTTTTTATTGTTTTATTATAACTACAGATCATTGTGTAG GATTTTTGATTCCTTAATTTCTAATAAAATATAAAAGTGTTAAAAGAGTT TTCAAAAATGTGTAACATTTATAAAAGTATTTTTAGATTCCCAATTTTTG TATCATTTGTGCAAATATCTCTCTATTCTGCAGTTTCTAATACATAGGTA TTTATTATTTCTAACTACATAGTAAACTTTCCCCAGTAAATTCTAAGTAT ATGTCCATATATATTTGCAAAGGCTTTACATAATTTATGAATACTCCGTT GTAATGTTTGTTTCAGAAGATTATGCTCCTGTGTGGTAATCATCATGGAT TTGATTTCATCAAACATTTATTAAGCACTTTCTTGGTGTAAGATTTTGTT CTAAGCATTATAGTGAACAAGACAGTCTTTGGCCTAAAAGAACTTAGATT GTAGTGGAGGCGACAGACTATAAACAATTAAATAAAAACATGATACAGGT CAGTTAGCAATAAGTGCTATGAAGAAACAAAGCGAGGCAAGG	C C	splice_region_variant splice_region_variant	LOW	NA19062.hp1 NA19062.hp1	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0080 a0006c0023t0080	a0006c0023t0080g0127 a0006c0023t0080g0127	1	390	0.0026	-2041	c.17 others(11): Show c.1708_*3748del	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	14/14				chr4	TogoVar
SMYD3_chr1_245744347_246512279	245974745	GGCCCAGG others(2033): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTGGCCTAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTGGCC TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATC GTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCATCTCTAGCCTAGGGAAAGCCATCGTCTGT AGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCC TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGC CATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCA TCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATC GTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCT AGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCAG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCAGG GAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	150	0.0067	-2040	c.532 others(19): Show c.532-46848_532-44809del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11				chr1	TogoVar
MAGEA4_chrX_151907889_151930170	151914810	TCCGCTTC others(2032): Show TCCGCTTCCGCTTTCAACCCAAGAAAGTCCCAGGTGCCCGGATGTGATGC CACTGACTTGCGCATTGGGGGTTAGAGAGAAGCGAGCTGCTCTGACCAGC CGCTTGGGATTGGCGGAGGGAAGCGGGCCAGGCCCTGTGAGGAGTCAAGG TGAGATGCTGAGGGAGGACTCAGGAGGCCCCCACCCCAGATAGACGACCC CAAATAATCCCGCACCACTCCTGCTACCAGCCGTGGGCCACCTGTGGGCG GACTTCTGAGTCTGGGGCGCCCACCACCCCACTGCCTCTGAAGTCGCAGA GGACTCTGGAGTCAGAGCTTAGGGTGTTTAGTGTAAGACTAGTGAGGCCA GGCTCTGCCAGGCATCAATCTCAGGACCGTAAGAGAGGGCTAAGCGTACC CCACCCCTATTCCCATCCCCCATCACGTCCCCTTTCCCATTACCATTTGC ACTCCTAAACCCATCCGCGCCCCCATCCCCCACCAGCACTCCTCCTCGAC CCCCCACCTCTGTCATACCGCCATCTGCCACCCCAAAAACCGGGGCCCCT CCACCAACCTCACCCCTCCCACCCCCATCCACGCTGAATCGGGTTCCGCT TCCGCTTTCAACCCACTCCCAAAAACCCGCCCCCTCCACCGACCTCCCCC CCACCCCCATCCACGCTGAATCGTGTTTCCGCTTCCGCTTTCAACCCAAG AAAGCCTCAGGGGCCCGGATGTGATGCCACTGACTTGCGCATTGGGGGTT AGAGAGAAGCGAGCTGCTGTCTGACCAGCAGCTTGGGATTGGTGGAAGGA AGCAGGCCAGGCCCTGTGAGGAGTCAAGGTGAGACGCTGAGGAGGACTCA GGAGGCCACCACCCCAGATAGACGACCCCAAATAATCCTGCACCACTCCT ACCTGCCGTGGGCCACCTGTGGGCGGACTTCTGAGCTTGGGGCGCCCACC ACCCCACTGCCTCTGAAGTCGCAGGGGACTCTGGAGTCAGAGCTTGGGGT GTTTAGTGTAAGACTAGTGAGGCCAGGCTCTGCCGGGCATCAATCTCAGG ACCCTAAGAGAGGGCTAAGCGTACCCCACCCCTATTCCCATCCCCCACCA CGTCCCCTTTCCCATTACCATTTGCACTCCCAAACCATCCACGCCCCATC CCCCACCAGCACTCCTCTCCTCTTCAACCCCCCACCTCTCTCATATCGCC ATCTCCCACCCCAACAACCCGGGCCCTTGTACCAACCTCACCCCTCCCAC CCCCATCCACACTGAATCACGTTCCGCTTCCGCTTTCAACCCACCCCCAA AAACCCGCCCCCTCCATCGACCTCACCCCTCCCACCCCCATCCACGCTGA ATCTGATTTCCGCTTCCTCTTTCAACCCAAGAAAGCCCCAGGGGCCCGGA TGTGATGCCACTGACTTGCGCATTGGGGGTTAGAGAGAAGCGAGCTGCTC TGTCTGACCAGCAGCTTGGGATTGGCGGAGGGAAGCGGGCCAGGCCCTGT GAGGAGTCAAGGTGAGACGCTGAGGGAGGACTCAGGAGGCCCCCACCCCA GATAGACGACCCCAAATAATCCCGCACCACTCCTGCTACCAGCCGTGGGC CACCCGTGGGCGGACTTCTGAGTCTGGGGCGCCCTCCACCCCACTGCGTC TGAAGTCGCATGGGACTCTGGAGTCCGAGCTTGGGGTGGTTAGTGTAAGA CTAGTGAGGGCAGGCTCTACGAGGCATCAACCTCAGGACCCTAAGAGAGG GCCAAGCGTACCCCACCCCTATTTCTATCCCCCACCGCCTCCCCTTTCCC ATTACTATTTGCACTCCCAAACCCATCCGCGCCCCTATCCCCCACCAGCA CTCCTATCCTCAACCCCGCACCTCTCTCACACCGCCATCTCCCACCCCAA AAACTGGGGCCCCTCCACCAACCTCACCCCTCCCACCCCCATGGATGCTG AATTGGGTTGCGCTTCCGCTTTCAACCCACCCCCAAAAACCCGCCCCCTC CACCGACCTCACCCCTCCCACCCCCTTCCACGCTGAATCG	T T	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0039 a0002c0001t0001g0039	1	344	0.0029	-2039	c.-13 others(19): Show c.-138+1842_-138+3880del	MAGEA4	ENSG00000147381.12	transcript	ENST00000276344.6	protein_coding	1/2				chrX	TogoVar
MACROD2_chr20_13990516_16058197	15321085	GTTTCAAA others(2030): Show GTTTCAAAATGCATGCCATCCTGATGACAGGCCACTCGTTGTGGCCTTAT GGCAAAGTCAGTTGATAGGGCTGCCAGGCAGACAGTGAGCAGAATTCTTT CTGGACTCTGTTCCTGCTTGTTCTTTTTTTCTTTTGTGTTTTGGAACTTC CCTTGACTTTGGTCCCATTTAGTTTCCCAATGTCTAACTTGCATTTACCC TTCTTTCACAGCTTGCTCACCTTTAGCTTCTATCTGACTAGGTCTTTGTG TTTTCATTTTGCCCTCTCAACAAACTATTTCTAGTCCTTAGCTCAGTAGC TTCACTGAGCAGGCCCATAAACTCCCTTTTGCCATTTCCACTTCCCAGTC ATATCTTGAAGACTTCCAACTTAAACACATTAATTTATGCTTGGGATGAT TGTTAAAATTTCTCTATTCCTACATCTTGTAATTAGCTTAGCTGATTTTT AAAACAAATCCTCTAAGAATTATTTTTATGAAGGCCATCTGGTAAAACAA ATTAATCTCCAAGGAATGTTAATCAGACTAATTGCTAATTAGGTGTCCTC CTTGATTCTATTAGTTATAGATTGGAAAGTGTTTGTCATATACATTAATT TTTGCAAAGATAGTGAGAAAACATTATTTTTTGCCCTGCAAGAGAACAAG TGAATCCATTTGCATGTATAATGTATGTGTGTGGTGATATTAAAAGATAT CCATTTTTTGTTGTTGTTGTTTTTTTGAGACAGAGTCTCACTCTGTTGCC CAGGCTGGAGTGCAGTTGCATGATCTCGACTCACTGCAACCTCTGCCTCC TGGGTTCAAGTAATTCTCCTACCTCAGCCTCCCAAGTATCTGGGACTACA GGCACATGCCACCATGCCCAGCTAATTATTGTATTTTTAGTAGAGACAGG TATTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTTGTGATCTG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCAC CCGGCCACTACACACAGTCTTTAAACTTAAGGGGTTGAAATTTATTCTAA TTGTTAGTGTCTCAGCTTCATTATTCCTCAAATGGTTTTGTGGTTCATGG AGCTTCAGAAATATGTTTTTAAACATACAAAAAAAATGCCAGTGGATTCA ACTCAATGAAAGATGGCAAATGAGTTTAATTTTATATACCAATGGTCTGA TAGGAATTACCTTGAGTATATTGTAGAGAATGCCTGGGTGGGACGGGGAT ATTTACCATGCACTCACTATGCTCCTCTGTAATGGACTGAGTAGTGATTC ACAAAAATGGAGCCACAAATAATAAAAAATCATTTGTGCTGACCCTGAAA ATGTGAGCCTCAAAATAAGACAAAATTAATCAGAACCAGACAAACTTTAA GGGAAACCCTAGTTCTTTATTGAAATGTCTTTGTGCCAAGGTAGTTAAGT GAAAGAATGGATGAAAACCAAAATTCGTACTCTCCCCCGCTCAACTATTT AGCCTGAGGTAATTATTCACTTATGGAAAGGAGTGAGTATTTTTGGTCAA AGTAATTTAGGTTTTATGAATGATTTCTTCCTGTGGTTTTATACATATTT GTAGAGAGTATGAATGACATTCTCCCTGAATTTGTCTTCTATTTAGTGGT GGATTGGTTTCACAGTTGTATGAGACTTCAGGGATCTTCCTTTTTCCTCT TTTGTTGTGAATTCTCTTTTTATAATAGAAGCATGAAAAAAGTCTGCCTA TTAGAAATGTGACCTTGGAATCCATGAATCCATGAATCCATATTTGGAAT CCATATTTATAAGAAATGAAATGTGGTATCAAGGAAGGAATTTTGTCTGG AAAGTCAGATCTGAATTCTGGTCCTGCCTCTCTGTCAGTGAGCCCTGTGG TTGTGGCTAAGTTGTTCCATGGTCTCTAATGACCTCAACTATGAAATAAG AGCTTGGGGTTCAGTTTTTAGGTAGAATAATGCTGTATGTTGATGTTGAC ATTCTGCCATTCTGCAGTGATATATTGCTTAATTTGCC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01168.hp2 NA18970.hp2 others(1): Show HG01081.hp1 HG01168.hp2 NA18970.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0002c0002t0007 others(1): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0007 a0002c0002t0008	a0001c0001t0002g0015 a0001c0001t0004g0016 a0002c0002t0007g0013 others(1): Show a0001c0001t0002g0015 a0001c0001t0004g0016 a0002c0002t0007g0013 a0002c0002t0008g0023	4	24	0.1667	-2037	c.540 others(19): Show c.540+91028_540+93064del	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	6/17			INFO_REALIGN_3_PRIME	chr20	TogoVar
TOX4_chr14_21472195_21504170	21484465	CAGCCTCC others(2030): Show CAGCCTCCTGATGTAGATGGCATTACAGGCACCTGCCACCACACCTGGCT AATTTTTGTATTTTTAGTAGAGATGGATTTTCGCCATGTTGGCCAGGCTG GTCTCGAACTCTTGACCTCAGGTGGTCCACCCACCTCGGCCTCCCAAAGT GCTGAGATTATAGGCATGAGCCACGGCACCCGGCCTTTATTTTCTTTCTT TTTCTTTTTTTTTAGACATGGTCTTGGTCTGTCGCCCAGGCAGGATTGCA GTGGTGCAGTCTTGACTCACTGTGACCTCTGACTCCTGAGTTCAAGTGAT CCTCGTGCCTCAGCCTCTCGAGTAGCTAGGATTATAGGTGTGTGCCACCA TGCCTGACTAATTTTTTGTTCTTTTGGTAGAGACGGGTTTCACTGTGTTG GCCAGGCTGGTCTCGAACTCCTGGCCTCGTGTGATCCGCCCACCTGGGCC TCCCGAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCTAATGT CTTCATTAAACCAGAATTAGAGGCTGGGCGCTGTGGCTCATGCCTGTAAT CCCAACAGTTTGGGAGGTCAAGGCAGGGTGATGGCTTGAGCCCAGGGGTT CAAGACCAGTCTGGGCAATATGGCCAGACCCAATCTCTACAAAAAATGCA AAAATTAGCCTGGCGTCATGGCCAGGCGTGGTGGCTCACGCCTGTGATCT CAGCACTTTGGGAGGCCAAGGAGGGCGGATCACCTGAGGTCGGGAGTTCA AGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAA ATTAGCCGGGCATGGTGGCACATGTCTGTAATCCCAGCTACTAGGGAGGC TGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCTG AGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCT CAAAAATAAAATAATAATAAAAATTAGCCTGGCATGGTGGTGTGCACCTG TAGTTACTTGGGAACCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCGG AGGTTGCAGTGAGCAATATCACGCCACTGCATTTTATCATGGGTGACAAA GGAGACTCTATCTCAAAAAAAAAAAAAACTGCCAGGTGCGGTGGCCCATG CCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCA AGAGATCGAGGCCAACATGGTGAAACCCCGTCTCTATTAAAAAACACAAA AATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCTAGCTACTCTGGAGG CTGAGGCAGGAGAACTGCTTGAACCCGGGAGGTGGAGGTTGTAGTGAGCC AAGATCGCGCCACTGCACTCCAGCCTGGGCCACGGAGCGAGACTCTGTCT CAAAAAAAAGAAAAAAAAAAAAAGACAGAAATGGTCATAATAGAAGAACA TTTCAGGATCTAGAGGAACCTTGAGGTCTGTAAGCCCAACACTTTGGAGG CCGAGGCAGTAGGATTACTTGAGTCCAGGAGTTCGAGACTAGCCTGGGCA ACACAGGGAGAGCTCGTCTCCACAAAAAATTTTAAAAATTAGCTGGGTGT GGTGGCACATACCTGTAGTCCCAGCTACTCGGGAGGCTGGGGCTGGAGGC TTGCTTGAGCCCAGGAGTTCCAGATCAGCTTGGGTGACAGGGCAAGACCC CATCTCAAAAAAAAAGAAAAGGAACCTTTAGGAACTCTATTTAAAGAATG CATTGTTCAATTATGAAAAAAAAAAATGTTGGTACCTATTGAATTTGATC TGAATCAGTTTATATTTACTATGCTATGTGTTAGATTGATAGAATTTAAA GTTTCTAAAATTCCAATTATCTGTTATAATTGGTTGGGGTGGGGGTAATC ATTATTAGGATATTATCATTCATAACAATGGTTAATGATGGTGATTAAGC CATTATATGTATCAGGCAATGTGCTAAGATTTTATGCATGAAATCTCACT TATCCTCATAATAACCATATAAGGGGATTACCATTATA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00423.hp2 others(205): Show HG00099.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(13): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0002t0004 a0001c0002t0014 a0001c0002t0016 a0001c0002t0025 a0002c0004t0011	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(113): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0189 a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0001t0005g0008 a0001c0001t0005g0013 a0001c0001t0005g0021 a0001c0001t0005g0035 a0001c0001t0005g0036 a0001c0001t0005g0040 a0001c0001t0005g0113 a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0131 a0001c0001t0005g0137 a0001c0001t0005g0138 a0001c0001t0005g0139 a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0011g0011 a0001c0001t0011g0020 a0001c0001t0011g0033 a0001c0001t0011g0100 a0001c0001t0017g0002 a0001c0001t0018g0152 a0001c0001t0018g0165 a0001c0001t0019g0033 a0001c0001t0024g0127 a0001c0001t0027g0001 a0001c0001t0028g0023 a0001c0001t0029g0001 a0001c0001t0030g0128 a0001c0002t0004g0017 a0001c0002t0004g0051 a0001c0002t0014g0052 a0001c0002t0014g0053 a0001c0002t0016g0017 a0001c0002t0025g0050 a0002c0004t0011g0011	208	400	0.5200	-2037	c.76- others(14): Show c.76-2984_76-948del	TOX4	ENSG00000092203.15	transcript	ENST00000448790.7	protein_coding	2/8			INFO_REALIGN_3_PRIME	chr14	TogoVar
CTNNA1_chr5_138748425_138940034	138900379	TTATGAGA others(2029): Show TTATGAGAGTCAGTCATTAATTTATTATCAAGAACAAAAAGAAATCTTAT CTTGTCTTCCTACAAACATTCCAGGATAAGAGGAACTCAGCCAAATAGGA AGCCAGGAGCAGTTAAGGAAGTGGGAAACAACTTGTGTTCGACTTCAGTA AATCATAAATCTATGTATAATAGAGAAAAATAGTCATTATGGTTACAGAA GGAGCAGGATTGAAATAAAGTCATAATGGGATTTTTTCCTAAATGAAACT TCATTTAACAAATTTTATGTAAGTAAAGATCATCCATCGTGGAGTAAAGG TAGAGCCTTCCTAAAAGACTGAAAAAGTTGTCTGTCATGTACAGATGTCT AATCTGTTGATCTGACACAGGGGGGCTGTGAGTCATTTCCTCAACAGCTC AGATTTGAGCTTGGGTTTTCCTGAAACCAGCAAAACCCAAGGCCGATTGT TTAAATGTTTTCTGAAACCTGCTCTTCCGCAAGGTCCAAACTTCCACACA GTAGGCACAGATGGTACAAAAGAGGGCTGCCTGATCTCAAACTAGTGGTT GTGGTGTCAGTCTTAGCCTACCTCTTCGAATAGTGGGAATCAGAGACATT TTAGTTGTTAATACAAGTAACTGTGGTAGGAAAGATAATAATTTATTCTC CTAACAAATCCAGAGATACTTCTCACTGTTCTACGAAGTCTTGGCTCTGC TGGGTTCTCTGTGGAAGTTAACTGCTCCAAGTGTTTTTCTTTTCTCTTCT CTTCTCTTCCGCTCCCCTCCCCTCCCCTCTTTTCTCTTTTCTCTTTTTTG AGAGAGTCTCGCTCTGTTGTCCAGGCTGGAGTGCAGTGGCGCCATCTCAG CTCACTTCAACCTCCACCTCCTGAGTTCAAGCAATTCTCATGCCTCAGCC TCCCAAGCAGCTGGGATTACAGGGGCGTGCCACCACGCTGGGCCAATTTT TGTATTTTTAGTAGAGGTGAGGTTTCACTATGTGGCCAGGGGTGGGTCTC CCAACTCCTGGCCTCAAGCAGTCCGCCCACCTCGGCCTCCCAAACTGCTG GTATTACAAGCATGAGCCACCACACCCAGCCTCTTTCTTTTTTTGGGACA TGGTCTTGCAGTCATGGCTTGCTGCAGCCTCGACCTTCTGGGCTCAAGCT ATTCTCCCAACTCAGCCTTCCAATTAGCTGGGACTATAGGTGCGTGCCAC CACACCCAGCCAATGAAAAATTTTTTAATGTATAGAGATGGGGTCTTGCT ATGTAGCCCAGGCTGGTCACAAACTCCTAGCCTCAAGTGATCCTCTTGCC TTGGACTGGAAGCCACTGCACCCAGCTCAGAGTGTTTCTCATTCTAACCT CAGGATCTTCTTTAGTCTCATTGTTAATAGTTACGTCATTCTAGAGCCCC AGATTTTCCACAGAAAGAGGCATTTAGGAAGCTCCTCTCCTCGCCCTCTC CTTTCACTGTAGTCAGGCCTGACACTAGTATGTGAGGTTAGCCTCTCAGA GAGCTATGGTCATGATGTTGCATTTGCACATTTGTCATTGTTAGAAGTGA GTAGCCCTGTCCCTGGGGGGTGAATTGAAGCTCATTCATCTGGAGAAGAC TGTTAGTGACAGGCACTCCTTCCTCCTCCCAGGCCTCCTGAAATAGGCAG TGTGCTCTTGTAGAACATTACTGCTTCAACAGTACACCAGAAATATTTTA AAGTAATGTTTTAAAATAAAGAACAAGTCTTCCATAACCTTTGTTTTGTT AGTGTTTGTAATCATGAAACAGAAAAGATGGTTTAACAGCCATTTCAGCC TTAGCCACACACTACCCTCATGTGTCTGATGTAGAGAGTACTTACGTAAT CTTTTGCTTCTTTTTTAAAAATCTTTTGCTTCTTAATTTAAATATTTTTC TGAGTTTTAAGGATTCATAAGATTGAGAATATAGATTGAAATAAGATTGT GCTAGTAGTGACTGTCCTGGATCCAGCATTCAAGTGGCCTCCTAAATGAT TGGAATAGGCAGGGTGCTGGGCACCTCACCAGGGATC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0020 a0001c0002t0003g0020	1	180	0.0056	-2036	c.129 others(19): Show c.1297-3968_1297-1933del	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	9/17			INFO_REALIGN_3_PRIME	chr5	TogoVar
PRKCZ_chr1_2045411_2190395	2121830	GTGGTAGT others(2029): Show GTGGTAGTTAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCAC GGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGCTGTAGTTAGCG TCATGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTT AGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTAGT TAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGTAG TTAGGGTCGTGGTGGTTAGGGTCATGGTGGTGGTTAGGGTCACGGTGGTG GTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAG GGTTGTGGTGGTTAGGGTGGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGG TCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTGGTTAGG GTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTC GTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGT CACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGT CGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGG TTGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGG GTCATGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAG GGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCACGGTGGTGGTTA GGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGG GTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGT GGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGG TGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTG GCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGT GGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCA CGGCGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTGGTTAGG GTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGTTC ATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGT CACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGTTA GGGTCACGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTA GTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTT AGGGTCGTGGCGGTGGTTAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGT TAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCATGGTGG TGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTG GTTAGGGTCGTGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGT GGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGG TTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTG GTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTAGT TAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACGGCGG TGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACG GCGGTGGTTAGGGTCACGGTGGTAGTTAGGGTGGTGGTGGTTAGGGTCAC GGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGG TCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGCGGTGGTTAGG GTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCA	G G	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18997.hp2 NA18942.hp2 NA18997.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0102 a0001c0002t0001g0098 a0001c0002t0001g0102	2	286	0.0070	-2036	c.335 others(19): Show c.335-13431_335-11396del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17				chr1	TogoVar
AHI1_chr6_135278532_135502740	135287747	TGAAACTA others(2027): Show TGAAACTAGGTTAGTGTTTGTGTGTATGTTATGTCTGGGGAATAAGATTC ATAAAAATACCGGGCCGTGGCCGGGCATGGTGGCTCATGCCTGTCATCCC AGCATTTTGGGAGGCTGAGGCGGGTGATCACTTGAGGTCAGGGGTTTGAG ACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAAT TAGCCAGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATCACTTGAATCCAGGAGGTGGAGGTTACAGTGAGCCAAG ATCGCACCATTGCAGTCCAGCCTGGGCAACACAGCAAGACTCCCTCTCAA AAAAACAAAAACAAAACACAACAAAAAAACCTGGACCTTACCCCACAAGA CATTCAATCCAATAGATCTTTCCTGAAGGTTTACTTCTGTGGCAAGACAC CAGGCTAAGTGCAGGGGAGGAAAAAAATGTGAGTATGTATTAAATAATAG CCCCTGACTGGAAGCACTGGCCATCTAATCAGAGTTAATATACAAAGCAA TGTGTAAGAGAAACAGCCCTGAACTTGGGGCAAGAAGATTAATTCCTAGT TCAGGTACTTTGTAGCTGTAACTTTGAAACCTTGGTTTCTTTAAATGTAG AAACAACACGCTGTATTAGAAAATTTCTAAAAATTACATTCATTTTGAAA GAAATGATCAAGTAGTAAATATACAGTAAGTAGATAAATTAGAAAATGCA CAAAGTTAAAATAGAAGAAAAAAATTACCATAATCTTACTACTCAGATAA TTATTCATGTCTTTTGATGTATATTATATAAACTATTTTATAATCATTTT TTACTTAAAAATCATAAACATCTTTTCATGTCCATAAAAATACTTCCATA ATATGATGAATAACCATATGATATTCTGTTATATAAATATTTCATATTTT AATCAACCCTTTATTTTAAAAACACTGCTCGAAGGAGTAGCCTTTTAACT AAATCTCTCCATGTATACTTGAATACTTTCCTATAAGAGATTCCTTGAAG TTGAACTGTCAGGTCAAAGAGATGCACATTTTGAAAACAAAACAAAACAA AAAAAAAACCCTAACATATTACCTAATTATACTTCACAAAGAATGGATCA ATCTTATAGTATTACCAGCAGTGTAAGCGGGAATCCACATCCCATTTTCT CATCAATACTAGGTATGTATCATAAGTTTGAAACTTGTCATTTTGAAAGG GTAAAATACCATCTCATTTTATTGTTTTAATTTTCATTAATTTGATCAAT GGATGGTAAACATTTTTCATATGTCTGTTGCCATTTATATTTATCCCTTT AAGAATCCTTTAAGAATGTCCTGTGTATATCTTTGTCCCGTTTTTCTACT GGTGTATTTTTTTTCTTGTTGAAAAAGCTCCTCTTAGAGCTTTTTATTTG TTAAGGGTATTACTCCTGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCTGAGGCAGGTGGATGGCTTGAGGTCAGGAGTTCAAG ACCAGCCTGGGAAACATGGCAAAACCCTGACTCTATTAAAATACAAAAAT TAGCTGGGTGTGGTGACACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGACTGCAGTGAGCTGAG ATTGCACCACTGCATTCTAGGCTGGGTGACAGAGCAAGACGTCTCAAAAC AACAACAACAACAAAAAAAAGAGTATTACTCTTCCATGGGTAAATCTCTT CCATCCCAGGTTATTGTTCATTTAAAAATTCTATGACTTTTTTTCTTTTT GACCTGCATAATTTTAAAGTTTCCATTATTTAAGAATCTGTTTTATAATG TTTTCCAATTCTGGTATCAAGGTTAAAAATAATTCCTTAGCCCATGATTA CATAACTATGCATCTATATGCTTCTGTACAATTAGATTTTAGTTTTCTAC AATGGAAAAATAAAAATATGAAAATTTTGACTCTA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02922.hp2 HG00639.hp1 HG02922.hp2	a0001 a0001	a0001c0013 a0001c0018 a0001c0013 a0001c0018	a0001c0013t0007 a0001c0018t0007 a0001c0013t0007 a0001c0018t0007	a0001c0013t0007g0168 a0001c0018t0007g0175 a0001c0013t0007g0168 a0001c0018t0007g0175	2	220	0.0091	-2034	c.358 others(18): Show c.3588+642_3589-2101del	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	28/28				chr6	TogoVar
DHRSX_chrX_2214506_2505976	2278138	AAGAGAGA others(2026): Show AAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCA AACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAA AGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGA GAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGG GAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGA GGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGA GAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGG GGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAG GGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAG AGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGA GGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGA TGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAG AAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGG AACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGA GGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAG AGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGG AAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGC AAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGA AAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGG AGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGG AGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGA GGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAG GGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAA TGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGG GAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGA GAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAG GGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAG AGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGA AGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAG GGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAA TGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGG GCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAGAGAGAAA GAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAG AGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGG AACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAG GAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAG AGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGG GGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGG GCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGA GAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAG GGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	50	0.0200	-2033	c.388 others(19): Show c.388+11331_389-11192del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6				chrX	TogoVar
GOLGA8B_chr15_34520095_34588651	34558804	TGCTTGCA others(2026): Show TGCTTGCAGGTGGCCTCTGATTCTGCCTCTGGAGCCTGTCTGCCCCCTCT TGATTCATTCATTGGGTCCCAAATATGTGAACAATAGCATGCTAGCCACT TTTAGAAATATTTGTGTTCATCTTCAAGAGAGGGGGGTCATCCAGCCATT CCCCAGCCCTCAAAACCCACTCCACAGACAAAGCAGTGGCGGGTCAGGGC TCCTCTTGCTCTTCTGAGCCGCTGGCATAGCGAACACGGTACAAAATAAA AGGATTTCACATGCAATAGAATTTCATTCACCCTGAAAAGGGAAGGAAAT TCTGACACAGGCTACAATATGGATAAACCTTGAGGACATCCTGCTAGAGC CAGTCACAAAAGGACAAGTACTGTGTCATTCCACTTCTCTGAGGCACCCA CAGTAGAGTCACAGAGACAGGAAGTAGAATGCGGGTGGCCAGGGGCTGGA GAGAGCAGGGAGTGGGGAGCTGGTGTTTAATGGGTGCAGAGGTTCTGTTG TGAAGATGGAAAAGTTCTGGAGATGCATGGTGGTGAAGACGGCACAACAG TGTGAATGTACTTAATGCCACTGAACTCTACACCTAAAAATGGTTAAGAT GATAAATTTTACATTATGTATATTTACCACAATAAAAGAAATAAGAAATA AAAGGTTTTTGGATGATGAACGGGCTCGAGCCAATTTGGACCCTCTAAAG CTAAGTTGAGCCAGGCTGAACCCATGTAGCCAGAATCATACTGGATTAGG CTGTTCTAGCACTTCACGTGGTGAGAATGGGGGAGAGAGAGAGAGATTGA TTGATCAGGGGGCTGTGCAGGGGGCGTGCTACACACTTGTAAACAGCCAG ATCTCTTGTGAACTCAGAGCAAGAGTTCACCTATCACCAAGAGGATGGCC CAAGTCATTCATGAGAGATTTGCCCCATGATCCAGACACTTACCTCCCAC CAGGCCCCACCACCAGCATTGGGGATTGCATTTCAATATGAGATTGAGGT GGGGACAAATATCCAAACTGTATCACCCACAAAGAAGCAAAAACATTTTG GGCCAAATCAAAACTATTTTGATGTAGCCACAGTAGGGATGAGCTGTGAT TACACCCATTCAGGCCTGTGGACCTGCGGACCTGGCGTGTGTGGTCGTGG GGCGGTGCGTGGGCACATCCCTGGGAGGTTTCAGGAGGACATTCAAGACC AAAATGAGCCATGAGTAAATAATACAACCACATCCTGAGTGGGAGTGGGG GAGCCTCCCCTTCTCTCCTAGGTCTTGTATGGGTCATGATCCCACCTTGG CAGGAGTGGAAGGAACACAGATCCTACAGGCTGTGGCTTATAGTAAAGTG ACTGTGGTCATGCCTTGTGAGTGTCATTAAAATAAACAGATATCGTTAAA TCCACTATCAAATAACAGCGATTTCTGCTATCCTTTCACCTTTTCCACAA GTTTAAATATCCCAGATATTCTACTGTGTATATTCCTAAAAGTAGACAGG TAGATTTAGTGAAGTTAACTGGATCATTGGTATCTTCTTTATAGATCATC TGGTGAAACTTGTTTTGCAAATTATGAGTTGTAGGCCTTTGTTTTAATGT CTGTAGCCTTAGGCAGTTCCATTGAGACTAACTCAGTTTTTTTCTTATTA GGACTAATCTTATTGACCGGAACTGTGGACTCCCCGTATTAGGAGAACAG AGATCTGGCCTGTGTAAATGAGTGGAAGTTAAATACTGTAGAAAATGCCC TCTGGAAACTGAAATCTAATGCTGACTTACTATTGGTCATTTAATTTCCT TCTGGCTTGGGCACCATCGTTACATTCATTTTTCAGATGTCAAGCTAGTT TTCTCAGAATGTGTGCAGGGCTCGAGGCCGAGTGTGGAGGCCACTGGGTG AATACAGGAGAGGTCACAGGTCAAGCCTCCTGCGAGAACTGCAGGCTTGA GCCTTCGATAGAGCCACGTGAATGATTTTTAGCCCCACTAGGTTGCTGTC ATTAAACTATGCACACAGGGCTTCTTGCTTTTAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00558.hp1 others(40): Show HG00408.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01123.hp1 HG01123.hp2 HG01361.hp2 HG01891.hp2 HG02027.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG03491.hp1 HG03491.hp2 HG03704.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp1 NA18946.hp2 NA18949.hp2 NA18956.hp1 NA18961.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18989.hp1 NA18994.hp2 NA18997.hp1 NA19004.hp1 NA19007.hp1 NA19011.hp2 NA19057.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp2 NA19084.hp1	a0002 a0003 a0012 others(3): Show a0002 a0003 a0012 a0014 a0015 a0024	a0002c0002 a0003c0003 a0012c0023 others(3): Show a0002c0002 a0003c0003 a0012c0023 a0014c0024 a0015c0022 a0024c0014	a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 others(8): Show a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0003c0003t0011 a0012c0023t0002 a0014c0024t0002 a0015c0022t0002 a0024c0014t0002	a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0006 others(38): Show a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0039 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0009g0040 a0002c0002t0010g0027 a0002c0002t0012g0032 a0002c0002t0013g0023 a0002c0002t0014g0038 a0003c0003t0011g0088 a0012c0023t0002g0026 a0014c0024t0002g0016 a0015c0022t0002g0035 a0024c0014t0002g0041	43	198	0.2172	-2033	c.-11 others(21): Show c.-1122-6881_-1122-4849del	GOLGA8B	ENSG00000215252.12	transcript	ENST00000683415.1	protein_coding	1/23				chr15	TogoVar
SLC17A5_chr6_73588379_73658992	73630875	CGTTTCTA others(2026): Show CGTTTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGGTGCACACCTGT TATCCCGGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAAACTGGGA GGCGGATGTTGCAGTGAGCTGAGATCGTGCCATTGTACTTCAGCCTGGGC AAAAAGAGCAAAACTCTGTCTCAAAAGAAAAAAAAAAAAAAAGAAAAAAA GCAGTCCTGGGCTGCGGTAAGCTAAACTGTCCTGGTTCTAACATCTAGGC CTGGGGTTGTCCTGTTGAACCGAAACCAGGCCACTCTATGAGCATGCTGG AGCAAGACAAAAATAAGACCACTTTACAGTGAGCTGAGATCACCCCACTG CATGACAGTCCGGGAGACAGAGCGAGACCCTGTCTCTAAAAAGAAGAAGA AAAAGAAAAAAAACCACTCCACAGTCATGTCTGAGCACAGACAAAAACAC AAATGCCATAAACTACAAAAAATGCGAAACATCTTCCTCTCCCAGCTAAT ATGAGTGACTGCTGTGCCCTTACTAATCACAGCTTTACCCCACCTTCTAG ATAAAAATTCATCATAGAATTATCAAATCCAGAGCAAAATATTGATTCTT TAAACCCTTCCCAAAGTCACCTACTGCAAGTCTAAACTGCAACAAGTTCC TCTCAACTCTGCACTAAGATGCCCCATGGTTCTTCATGGTGTGCTTTCTT CCTCACTGCAACGAACCAAGAAACCCAACTTGTTCAACTACAAGTGTGTT CCTTTGGCCAAAAGGCACTGACACAAGGAAGCTTTTCCTGTCTGCCCCAG GCTGGCTGAGGACTGCCACCTTCTCTGTTCCAAAGATGTCCTGTACCTTA CAGCACTGCATTATGCAGGCTATATTGTATTGAAATTCTGTCCATCCATG TCTGTCTCCCTCTGGAGACCTTGGGCCCCACAGGAACCATGTTTTATTTT TTTCCTCTTATTCATTTTTAAGTCCTCAGCTGACAAAGAACCTAGGTCAT AGTAAAGTTTCAAAAAAAAATGTTTAAAGAATGAATGAGTAGATGCTGCA CATTTCTTGGGTCCAAGATTTAAAGATGCAGCTTCACGTAACACATCATT TTACAACACTGTCAACTATAACGTCATGTGCTTTAAGAATGCAGTCTGGT TGTACAAGGTGACTCATGCCTGTAATCCCAGCATTTTGGGAGTCTTAGGC AGGAAGACTCCTTAAGCCCAGCAGTTTGAGACCAGCTTGATCATCATAGC GAGACTCCGTCTCTACAAAAAATAATTAGCTAGGCATGGTGGTGTGCACC TGTAGTCCCAGCTACTCGAGAGGCTGAGGTGGGAAGACTGCTTGAACCTG TAGGGTTGAGGCTGCACTGAGCTGTGATGGTGCCACTGTACTCCAGCCTG GGCACTGAGCTAGACTCAAAAAAAAAAAAAAAAAAAAAAAGGAATGCAAT CTGGGCTTCTCCTCCTAACTCTCTTGCCTCTGAATATTCCTTTTTCCGAA GTGTGTCGAGAAACAACCTAAGTTTGGAGAGATTAAGACACATATCGATG TAGAGAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGGGTCTTG CTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAAACACAGCTTACTATACC GTTGACTTCCCAGGCTCACTCAATCCTCCTGCTGCAGCCAGCCGAGTAGC TGGGACTACAAGTGCATAACCTCATGCTTGGCTAATTTTTAAATTTTTTG TAGAGATGAGGTCTCGTCATGTTGCCCAGGCTGGTCTCAATTCCTGGGCC CAAGCAATCCTTCCATCTTGGCCTCCCTAAGTGTTGGGATTACAGATGCG AGCCACCACCCCTGGCCAAGGGAAAGCTTTTTAAAAAATTTAAACAAACT CAAAAGTTTTATCAGTTCTGGAAGATCATGATAAAAATGAAATATTGGAG AAAGCAAGCTGTTACCCATCAATGTTGAGAAAATGACAAAACATATCAAG TTTTACATGGCAACATCTGTTTATAATGTGTTAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02896.hp1 HG02897.hp2 HG02559.hp1 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099	3	324	0.0093	-2033	c.819 others(17): Show c.819+2474_819+4506del	SLC17A5	ENSG00000119899.13	transcript	ENST00000355773.6	protein_coding	6/10				chr6	TogoVar
KANTR_chrX_53089142_53132438	53105904	GTGGAGTG others(2025): Show GTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTG GCCAGATAATATGAATTATAAATATTTTCTCCCATTCTGTGGGTTCTTTT CATTTTATTGATGGTATCTTTTAATGTACAGTAGGTTTTAATTTCAGTGA TGTCCAGCTTACCTATTTTGTTGTCACTTGGGCATTTGGTGTTATATCCA ATAAATCATCGCCTAAATCAGGGTGACAAAGATTTATTCCTATGTTTTCT TCTAGGAATTTTATCGTTTTAGCTCTTACATTTAGGACAGTGATCCATTT TGAGTTATTTTTGTTTCAAGACAGGGTCTCGTTCTGTCACCCAGGCTGGA GTGCAGTGGCACCATCACAGCTCACTGCAGCCTTGACCTCTTAGGCTCAA GTGATCCCCCCACCTCAGCCTCCTGAGTAGCTGACACTACAAGTGTGAGC CATCACACCCAGCTAATTTTTATATTTTTGTAGAGATGAGGTCTCTGTGT ATTGCCCATGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCTCACCTC AGCCTCCCAAAGTGCTGGGATTACAGACATACTGTACCCAGCCCATTTTG AGTTAATATTTGTGTATAGCGTGAGAGTAGGGGTACAGGTTTATTCTTCT GACATGGATATCTAGTTTTCTGAGCACCTTTTGTTGAAAAATATTCTTTT TACCATTGGATTGTCTTGACGACCTTGTCATAGACCAGGCATAGTGACAC CCATCTGTAGTCCCAGCTACTAGAGAGGCTGAAGCAGGAGGATCACTTTA GCCCAGGAGTTCAGGGCCAACCTGGGCAACATAGTGACACCCCATCTCTG AAAAAAATAATTGACCATAAAACATAAACATAAAGGTTAACTTCTGGACT CTTAATTCTATTCCATTGATTTGCAGGTCTGTCACTATGCTAGACCACAC TGTCTTAATTACTGTAGTTGTAGTAAGTTTTGAAGTCAAGAAGTGAGAGT CTTCCAACTTTGTTCTTTTTCAAGATTGTTTTGGCTATCCTTGCATTTTC ATAGGAATTTTAGGATCAGCTTTCCAATTTCTTTCTTTTTTTTTTTCTTT TACAGATAGGATCTTTCTCTGTTGCTCAGGCTGGAGTGCAATGGTGTGAT CATACTTCACTGCAGCCTTGAATTCCTGGGCTCAAGTGATCCTCTTTGCT TTTTTTTTTTTTTTTTTTTTGTAGAGACAGGGTCTTGCTTTGTAGCCCAG GCTGATATCAAATTCCTGGCTTCAACCAATCCTCCTGCCTCGTCCTCCCA AAGTGCTGGGATTACAGGCATGATCTACCAAACTCAGCAGTTTATCAATT TCTTTAAAAAAAAAAACAGCTGAAATTCTCATAGAGATTATGTTGAATCT ATATATCAACTTGGGGAGTATTGCCATTTAACAATATTGTCTTCTAGTCT GTGAACTTGGGATTTATTTAGATGTTTAATTTCTTTCAGGAGTGTTTTAT AGTTTTCAGTATACAAGTCTTGCAGTTCCTTTGTTAAATTTATTCCTAGG CATTTTATTCTTTTTGATACTACTTTAAAATGGGATGTTTTTTAATTTTT AAAAATTTTTAAATTAAAATAATTTTTAATTTCCTCATGCTTTTATCTCA GAGTCAGGGGTTTGTTTTCTAGAGACAAGGTCTTGCTCTGTTGCTCAAAC TAGAGTGCAATGGCTCCATCATAGCCCACAGCAGCCTTGAACTCATGGGA TTACAGGTGTGAACCACTGCACCTAGCTGGACTTTTTCTTTTTTTCTTTT TTCTGAGACGGAGTCTCACTCTGTCACCCAGGC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02622.hp1 others(3): Show HG01243.hp1 HG01891.hp2 HG02622.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 a0001c0001t0001 a0001c0001t0005 a0001c0001t0017	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0005g0033 others(3): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0047 a0001c0001t0017g0091	6	249	0.0241	-2032	c.-80 others(19): Show c.-805+6310_-805+8341del	KANTR	ENSG00000232593.8	transcript	ENST00000604062.7	protein_coding	2/2			INFO_REALIGN_3_PRIME	chrX	TogoVar
VAV1_chr19_6767708_6862361	6779005	TAGCTGGG others(2025): Show TAGCTGGGACTACAGGTGTGCACCGGCATACCTGGGTGATTTTTTTGTTT GTCTGTCTGTTTTCTGAGACAGGGTCTCAATCTGTCACCCAAGCTGGAGT ATAGTGGTATGATCACAGCTCACTGCAGCCTCGAACTCCTGTGCTCAAGC AGTCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCACCA GCAATACCTGGCTAATTTTTTATTTTTTGTAGAGATGGGGTTTTGCTATG ATGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATTCCTCCCGCCTT GGCTTTCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAG AATAGAGGTTCTTATCTCCATCCTCCCATAACAGGAAAGATGACACATGC CACCCACTGCTCTATGCTTGCTTTCCTCACTAATCACCTTGGCAGTCTTT CCAAGTCAGTCTGTAGAGATTATAATTATTCTTTATAACATGACTGCGTA TTCCATTTATTTCAAGAAAGACTTACATTTTGCTCGCCCTGTGCTAGACA TTAGTCTAAACCAGGGAGGGGCCTGGCTGGATGCAGTGGTTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATTGCTTGGGTACAGGA GTTAGAGGCCAGCCTGGGCAACAGAGTGTGACCTCGTCTCTATAAAAATG AAAAATAAAACTAAAATAAAGCTGGGGGCTGGGTGCGGTGGCTCATGCCT ATAATCCTAGCACTTTGGCTTACAGGTGTGAGCCACCGTGCCTGGCCCAA TTATAGCTTCTAAAAAATAATAAAAGGCCGGGCACGGTGACTCACACCTG TAATTCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTGGTTGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAAGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGT GAGCCGAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTC TGTCTTAAAATAATAATAATAATAATAATAATAATAATAATAATAATAAT AATAACCTCATCCATGAATCATTTTCCAGCTCCTCTGCTGTGTGATCTTG GGCACATTAGTAAACCTCTCTGTTTCCTGGTTTCTCATCTGTAAAATGAG GATGCTAAATCCCTATTTACAGCATCATTGTGGGGGATAAGTGTATTATT ATAAAGAACCTAGAAAAGTGTTTAGCTGCATATGCAGTTGTGTGTTGCTT AATAAAAGGAATCTGTTCTGAGAAATGCGTAGTTAGATGATTTCACAGTT GTGTGAACATCAGAGTACATTTACATAAACCTAGAGGGTACAGCATACTG CACACCTGGGCTATATGGTATAACCTATTGCTCCTAGCTACAAACCCGTA CAGCATGGGACTGCACTGAATACTTACCATTGCATTAAAAGATTGCCTTC TCCTTTTCTTTCTTTTTTCTTTTTTTTTTTTTTTTGGGACGGAGTCTCAC TCTATTCCTCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACTGGAACC TCCACCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGATTACAGGCACGTGCCACCACATCCGGCTAATTTTTTTGTATTTTTA GTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCCTGAC CTCAGATGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACACGTG ATAGCCACCATGCCCAGGCGATTTCTTATCATTTATACCATATTTTATAC AAAGATTTCTTATCTTTCTTTTGAGACAGAGTCTCACTCTGTCACCCAGG CTGGAGTGCATTGGCACGATCTCTGCTCACTGCAACCTCCACTTCTTGGG TTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01123.hp2 others(3): Show HG00099.hp1 HG00735.hp2 HG01123.hp2 HG01192.hp2 HG03491.hp2 HG03669.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0258 others(3): Show a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0002c0003t0003g0261	6	306	0.0196	-2032	c.204 others(17): Show c.204+6009_204+8040del	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26			INFO_REALIGN_3_PRIME	chr19	TogoVar
EIF3CL_chr16_28374715_28408841	28406810	GATCACCT others(2024): Show GATCACCTGAGGTCAGGAGTTCGAGACCAGCTCGACTAACAATGGTGAAA CCCCATCTCTGCTAAAAATACAAAATTAGCTGGGTGTAGTGGCACATGCC TGTAATCCCAACTACTTGGGAGGCTGAGGCAGGATAATTGCTTGAACCCA GGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTG GGCAACAAGAGTAAAACTCCATTTAAAAAAAAAAAAAAAAGCATAATAAC CCCAGAAGGCAGGCCACACTGTTCCACTTTAGAGAGGAGAATGTTGATGT CCTAAAAGGTCAAGTGACCTGTCTAAGGTCAAATCGATAGTTTGCATTCC AACCCAAACATTATTCCACAGCTATCTAAACTGTTGAGAGATGTGTTGTT TTAGAGCCAGACTCCAACAATTTTTGAGTGAATTCAACTTAGTCTTTTTT TTTTCTTTTCGAGACGGAGTCTTGCTCCATCACCTAGGCTGGAGTGCAGT GGCGCGATCTTGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCAACTGCCACCACG CCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAG CCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCCACCTCAGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTC TTTTTTCTTTTTTCTTTTTTCTTTTTTTGCAATTTCTGCTGCCCAGGCTG AAGTGCAGTGGTGTGATTACGGCTCACTGCAGCCTCAAACTCCTGGCCTC AAGCGATCCTCCCACTTCAGCCTCCTGAGTAGCTGAGACAACAGGCACAC ACCACTACACCCAATTAATATTTTTACTTTTTGTAGAGATGGAGTCTCAC TATATTGCCCAGGCTGATCTTGAACTCCTGGCCTTAAGCAATTCTCTAGC ATTGGCCTCCCAAAGCTCTGAGATTACAAGACTAAGCCACTGTGCTTGGC CTCAACTTCATTTTGTAAATAGGAAAAATGGGAATGAAGGCAGCTGACTT AAAGAAATCCTAGGTCGGGCATGGTGACTCACACCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGCTCGAGACCAG CCTAGTTGACACCGTGAAACCCCACCTCTACTAAAAATGCAAAAATTAGC CGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGC AGGGGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCT TGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCTTGTCGCCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGAAAGAAAACCTAGTAATTT ACCTAATAATTTCTTCCTTTATGAGTGTAGTAGGCTCTGTGACTGGAGAC AAACGTAACATGGGTGTATTTAATAGGTGAATTTTGTTAATACCCAGATT CTGATGGGGTCCTTAATGGTCCCAGAGTGGGAACGACACCCTGGAAGAGC TTTGATCAGTCTGGTGTCTCCAGTTCATGTGGGCGTACGTATTTCTCACA GCAGATTGACTCTCTTCATGTGCCTGTAATAACACAGCCAGCAAGCAGGA AGATGATAACCATAACTGGCATTTGAATAACAATTTCAAATGCATAGAGG TGCTTGAAACTCATGAAAACTTATAGGTGGGCAGGAAAAGCAGCTATTAC TAACCTCATTTTACAAATGAGAAAAGCAGGACTCTGCAGTGCGGGGGAGG GCTCTGTTGTGACAGCATGAGATTCTGAAACCAGGTCCTCTAACTCGCAG GTCACAGAAGACGCTTCCAAGTATATTATTTTATTGCAGAAGGGGAATGA ACTGAGCGGAAGGAGAGGACAGAGCGTGGGAAAAGGGGAGGGAGTGCCAT GGGAACCCCTCTGTGGGACAAAATGCTGGGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	172	0.0058	-2031	c.-50 others(11): Show c.-5085_-3055del	EIF3CL	ENSG00000205609.13	transcript	ENST00000380876.5	protein_coding			2970		chr16	TogoVar
PHACTR4_chr1_28364740_28505364	28408830	TATGCCCG others(2024): Show TATGCCCGACTGATTTTTTTTTTTTTTTTTGGTAGAGATAGGGCTTTGCC TTGTTGAGCAGGCGGCTCTGGAATTCATAGGCTCAAGGGATCCACCTGCC TTGGCCTCCCAGAGTGTTAGAATTACAGGCGTGAGCCACTGCACCCAGCC TAATATTTCTAATTAAGTTTAGCCTGTGTATATTTCATCTAGCAACATGA GTAAAGGAATGTAAGTCTAGATATACAAAGGTTTAATGTCTGCCTTTTTG GCGATAAAGTCATTTACTGTGTGTGGAACCCCTTTTCTTTCTTTCTTTTT TTTTTTTTTTTCCAAGACTGGATATCACTGTGTTGCCCAGGCTGGAGTTC AGTGGCTATTCACAGAAGCAATCATAGCATGCTACATCCTTGAACTCCTG GGCTCAAGCAGTCTTCCTGCTTTAGCCTCCCACTGTGTTTGGATGGTAAG GGGTGAAGAAGACTGAGTAAAGAGGCTGTTGCATTCAGCATTAATTATGC ATATTTCCCACGTAGCTAGGACTACAGGCATACTCCACCACTCCTGGCCC TATTTTTAACTGATGCTCATTTCAAAGTGAGAGATATGTCTTAGGATATC AGATTTTTTGAAACCATAACATTGACTAGGAAGACTAGTTAGGAAGTACT TTTCATTTTAAAATACACATTAGCAAAAAAGAAAAAAAAGAAATCAGAGG CAGTTTTACTTGTTTAATTTCAGCGTACTGGAGGAAGCATCCGATTCAAG CATTTTCTGATCCTTCATCACACGGAAAGAAGTCTGAATCCCTTTTTATG CCAGTGCAGCTTGAGGAAGTATAGTAAAAATACTACTATATAATACTAAC TGAGGTTAGGCTTTTTGGGCTACTAGTACTAGCAATCATCTGGCTCAGAT TAAGAGCTTTTGTCTTGCTTTGAGAAGACTGCCCTTTATTACTTTGTAAT ATCAGAATTTTTCTGCTTTTAACGACCTTAGATAATTTCTTTAGGACCTT GGCTTTCTTTCCCCCCTGAAGAGTAGTTTTTAGGATTATGCCTAGTTCAT CAATTAGATCCATCATCAATTAGATCCATCCTTAGTTTGAACACAAGAGG GCAGTCTGTACTTCTTCATAAATTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACAGAGTCTCGCTGTGTCCCCAGGCTGGAGTGCAGTGGGGT GATCTGGGCTCGCTGCAATCTCCGCCTCCCGAGTTCAAGCCATTCTCCTG CCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACGTGCCACCACACCCAG CTCATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGG ATGATCTCGAGCTCCTGACCTCATGATCTGCCCACCTTGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCACTTATTCCTAAAG TTTGTAGCTTCATTACCAGGTTAAATCTTGAAGAATTTGGTAAACTGAGT TTTATTATAGTAGTCTGGTGACAAATTCTAAAGAACATGACCATATGATA AACTAGAATAATACATGACAACTCCGTAGGTTTGTACTGGAAACCTAAGT TTTCATTCTGAGTGACCTCCTTGCTTCACTTAAGTAAACATAACCTAAAT TTTAATATAATCTTATCAATCAAATTTATTATTAAACAATTAAATTAAAC TGAAATTAACCTTAAATATAACTTAAATTTTCTAGGGAGTATCAACGTGA GAGTTGCTATAGAAGTTATAGTTGACCAGTAGTCAATTGAGGCATAAAGT GAAATGTGCTTTTGATTGTTTACTAAGATAGGTAGAAATTTGGGTTCTGT GCTAGTGAGATTATTTTTTTCTTTTTCTTTTCTTTTTTTTATTTGAGACG GAGTTTTGCTCTTGTCGCCAAGGCTGGAGTGCAATGGCACAGTCTCACTT CACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTC CTGAGTAGCTGGGATTACCAGCACCTGCCACC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	228	0.0044	-2031	c.16+ others(15): Show c.16+1374_16+3404del	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	2/13			INFO_REALIGN_3_PRIME	chr1	TogoVar
P2RX5_chr17_3668227_3701155	3685659	CCAGCCTG others(2023): Show CCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAAC ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCCC AGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTC CCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCC AGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACA GCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTC AGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCC CTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTC CCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCG GGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGA ACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGC CCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGAC CCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACAC AGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCT CAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCC CCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCT CCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGC GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCA CAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAAC AGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCC TCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCC CCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGG AGAACACACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCC GCCCAGCCTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCC CAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCC AGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGA ACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCC CAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAA CGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGG GACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACA CACAGCGGGACCCCCAGGGACCCTCCCAACG	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	362	0.0028	-2030	c.981 others(16): Show c.981+323_981+2352del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11				chr17	TogoVar
IKBKB_chr8_42266302_42337460	42298082	ATGTGAGT others(2022): Show ATGTGAGTGGACTCTATTTAAACAGTCTTGCTCATTATCCTTTGGAAAAC ATTGGCATGTGTTTTCTTTTGTCAAGGGAGGCTCAAAATTCTGGGCACTC AAGATTGCAGGGCAGGCTGTGGTGCTCTCTCCTGCCTGATGGGGTGTGGC TCTGCTGGGCGGGCCTGGGTCTTATCAGATCTTAGATTGGAATCAGCCTT TCCTGGATTCTGCAGGTGGCCAGTCTGCTGTGGTGACACCATCCTGTGCT CCAGGCCTTTCGGGAACCCACCCCTCTGTTGCTGTCCCTGCTTCCTTCTC GAGCTGCTCCTAGCAGGCATCCAGGACTTCAGCGTTAAAGAACAGAGGGT TTCAGAGAAAACATTTGGCTTTGGGGAAGAGAGCTCCATTCCAGGAACTG CACATCAGGTGCACTGTCTAGCATTGTGGATCTTCTGACTGGTTCCATTG CATGCATCCATCTGACTGAAGTGTGGATTATAGCAAAAGATCATTTGCAC ATAAAGCTTTTTGGAAAGCATAAGTAACCAGGTTAATAAATACAGTAACA ATGAGAGAGAAGACAGCAGGCCCTCAGTCATGGCTCCACCATTTTATAGC TCTAGAGCCTTGGGCGAGGCATGGAATGTCATGGCCGCAGCGTCCCCTTC TTTAGGATGAGGGGTTTGGACCTCCGAGTGCTCTCTAGGGCCCCGTCTCC CTCTAACAACTCCATTTCACTGTCCAGAAATCTGGTTTTCAGGATGGTGG CCCCGGGACATCTCTGACATCCGCCAGCTGGTGGCCTAACTGCTTCCCAC AGGCTCTGTGTCTCATCTCCACTGCCTGCCCCTGCATTCGCCTGTCCGTC CTTCCCTCCCTGCCCCTGCGCTGGCTGCCCGCTGCTCCTCGACGTTCTGT TTCCCTGGCCGTTCTTGTGGCCTGTTTCTCACCATATTGTTCCCAGAATC TGGAATTCAACCCTGAACTCATCCTAAAGTCATATCCATGTCTGCCAGGT CTTTCTTCCAAAGTCAATTCCAGTAGAAGCTCTGGTTGTCTTCTTCAGCC AGGTCCCTCCTGCCATCCCCTTTCTTGTGTCATGGTGCCACTTTCTGCCC GCTGCCCAGGACCAAGTGTCCGTGTCGAACCTGGTCTCACAGAGTCAGCC CCCGCTCCTGCTCATAGCCTTGCATTACGGAGGCTGCAGACCGCTGCTTC TGCTGATTCAATGTCAGAGCAAATCCCTGCAGCGACCTCCTCCCTGGCCT CCTTAACCCTGTGTGCTAACCTACCCTTCTGTCTTGGAAGGGCACTTCCA TCACAGTCCACTCTTAGATAAAGGCCCAGCCCCTTCGCCGTACCTTTCTC CCACTCAGCCCTGGGCATGACCCACAGGACCCACCCGCCAACCTCTGTGT GTGACCCTTGGAACCCACCCGCCAGCCTCCAGGCGTGACCCTCAGAACCC ACCCGCCAATCTCTGTGTATGACCCACAGAACCCACCTGCCAGCCTCTGT GTGTGACCCGCAGAACCCACCTGCCAGCTTCTGGGCATGATCCTCGGAAC CCACCTGCCAACCTCTGCACGTGACCCACAGAACCTACCCGCCAGCCTCC GTGCGTGATTCCAAACCCACCTGTCCCTTGCTGGCCTTGCACGCGTTGCC CCTTGTGGAAGCTGTTCTTGCACCTCCCAGAGACCCTGAGCCTGCCCGTC CTTTGGGCACAGCTGCAGACCTGCCCCTCTGTGGGGATTGCCTGGCCTGG GGTCACGGGGATTTTCCTGTGGGTCTTTCTGCTGATGTCACCTCATTTGC TCCTTTGACGCTTGGCATTGCCATTACTGCTCTGTGATTTCTGTCTGTGC CTTGGCAGTGAGGGCTGACTTCCGGGTTTGGGGCCAGTTGACCAGACTGT GCAGGAAGTTAGGAAAAGGCTTTGATTCAGTGGCATGTTTCCCATTGTGT GCAGATAGTGGACACTCAATAGAGCCTCGCTGAGTGAATTAGTGAAGTTG TCGCACTTTCGCCTTGGCACCCAACGTTAC	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	278	0.0036	-2029	c.388 others(17): Show c.388+4573_389-5074del	IKBKB	ENSG00000104365.16	transcript	ENST00000520810.6	protein_coding	5/21			INFO_REALIGN_3_PRIME	chr8	TogoVar
SHISA9_chr16_12896598_13245416	13200608	GCTCCAAG others(2022): Show GCTCCAAGGTGTGGTGAAAGCCATACCTTATCAACACCTTTTCTACTGTT ACTTTATTAATCCTGGGACTCTCCCATCGCAGCTGAATCTCGGCCAAAAA GCTATCGTGGTAGAAGGATACATGCGTCTCTCCAGACGTTGGCCAAAGAC TGGGTTACTTGGCACTTATGTTTGGCGACATTCCCATTTAACACTTGGGC TTGTGTGATGGCCCATGCAGGTAAAGTGATAAAAATACTGTCCCTAACCT CATGCCTCAGCTAGGGTATCTCTGCCTGTTTCCATTTGGGTTTGTTGGTT TCTAAAGCCACACATTTTCCGTATGCATCAGGGGTTGAGTTATCTAAAAG CAAAGCCTGGGAAAGGGGTTCAGATGCATGTGACTTTGAGGGAGTGTTCT TCAGGTAACAAATAAACACACACCTCTAAGGTTATGAGGGAAGCAGTGTA GGAAAGGTTAGGGAGCCACACAAAAATGGGGCTCCAAGTAAAGTCCAGAT TCAGGGGTTGTCAAACTATAGCCCTTGGGTCAAACTTGGTACCACCTGTT TTTGTAAATAAAGTTTTATTGGAACACAGCCACACCCATTTATGTAGTTG TCCCACGGTATCCATGGGGATTTGGTTTCAGGACCCTCCAAGGATACCAA TATCAACAGATGCTGAAGTCCCTTATAAAAAAATGGCATAGTATTTGCAT ATAACCTACTCACATCCTCTCATATACTTTAAGTCATCTCTAGATTACTT ATAATACTAGTACAACACAGATGTTATGTAAATAGTTGTTACACTGTATT TTTACTTGTATTATTTTTAACTATTGTATTGTTATTTTTAATTTTTTTCT GGGTATTTTCAATTCACAGTTGGCTGAATCCAAGGGTGTAGAACCTGTGG ATACAAAGAGTCAACTGTCTTCTGTCTAGGGCTGCATTCATGCTACAAAG GCAGAGTTGAATAGTCAAAGCAGAGACTGATGGCCTATGTAGTCTAAAAT GCTTACTACCTGGCCCTTTACAGAAAAAGTTTCCCGACTCCTACTCTAAA CTTGTCCCAGTCCATGTGAACTCTGAAGTATCATCATTTCATAAAGTTAT CCCCATGTTGAGGCAAGGGGCTGGTCTTTGGACTTCAGTGTCAGCGGGAC ATTGGTTGCTGACCACTTGAGGATGAGGTGTGTGAAGCATATTGACCCCA GGGCAGTGGCTCCTATCAGCCAAGAGCAATTCTCTGGGTATTGAAGGCAG CTGTGAGCTGTTAGCAGCCAACATTTGCAGCAGCTGGGAAATGGGTTCAC ATACTAGATAAAGGGGATCTTTCAAGGCACCACTGGCAACCACCGCAGTG CATACCTGGATGGACACACATGCTTCATGAAGCCAGAGGGAACCCATACT TTCCACCTCAAAGTGAGCCATCATTATCTCCCAGTGATGGGATGGATAGA CAGGAGGCGAGACCCATTCCCATTTGGGTCTCGCCTCCTGTCTATCCATC CCATTGCTCTCAGGATGAAGATGGTGACACTTACCAGTGTTCACTGGGTC CTGCCACCCTCTCCAACCCCACCTCATTCCAGTTTCCTTACACTGTATTC TCTAGCTGTGCATGGCCAGAGCTCAGAGGGCAATTCCTTCCGTTGCTGAG CATGTTGGGTTCCATCCAGCTCCACGGCTTTTGCTCATGCTGCTTCCTCT GCCTGAAATACCCTCCCTCATATCTTCCACCTTCCACCACACTGAACTAT TATAACAACCCTCCTTCCTGTAGATCTCAGCTCAGAAAAACCTTCCTGAA TCTCTCTTTCCTTGAATCTCATTTCCCTTCAAGCAGCCAATATTTAGTTT GTTTGTCTTTACATTTGTTTGTGTCTTGTGCAAACTTGTAGTATGCAAAA ATATACACATAGGTTATATTACTTAACAAAAAATGCTATACTATTTGCTT TCCTTTAAAGCTTCCTTTTTTCCCTTTAACAATATAAACCATAAGAAACT GTTCAAGTTTTCCTTCATTTTTTCTAACAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00738.hp1 others(51): Show HG00099.hp1 HG00544.hp1 HG00738.hp1 HG01074.hp1 HG01167.hp2 HG01255.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG04204.hp1 NA18952.hp1 NA18955.hp2 NA19007.hp2 NA19043.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0034 a0001c0001t0035 a0001c0001t0053 a0001c0001t0055 a0001c0001t0063 a0001c0001t0065 a0001c0001t0066 a0001c0001t0073 a0001c0001t0076 a0001c0001t0077 a0001c0001t0084 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0096 a0001c0002t0006 a0001c0002t0009 a0001c0002t0060 a0001c0002t0082	a0001c0001t0001g0087 a0001c0001t0001g0120 a0001c0001t0002g0012 others(51): Show a0001c0001t0001g0087 a0001c0001t0001g0120 a0001c0001t0002g0012 a0001c0001t0002g0045 a0001c0001t0002g0173 a0001c0001t0002g0207 a0001c0001t0003g0180 a0001c0001t0004g0006 a0001c0001t0004g0025 a0001c0001t0004g0080 a0001c0001t0004g0203 a0001c0001t0005g0095 a0001c0001t0006g0079 a0001c0001t0008g0050 a0001c0001t0008g0075 a0001c0001t0008g0111 a0001c0001t0008g0128 a0001c0001t0011g0123 a0001c0001t0011g0139 a0001c0001t0011g0155 a0001c0001t0012g0078 a0001c0001t0012g0145 a0001c0001t0013g0122 a0001c0001t0014g0036 a0001c0001t0014g0037 a0001c0001t0014g0052 a0001c0001t0014g0077 a0001c0001t0017g0194 a0001c0001t0018g0131 a0001c0001t0020g0047 a0001c0001t0021g0053 a0001c0001t0023g0119 a0001c0001t0034g0121 a0001c0001t0035g0140 a0001c0001t0053g0055 a0001c0001t0055g0118 a0001c0001t0063g0138 a0001c0001t0065g0056 a0001c0001t0066g0076 a0001c0001t0073g0109 a0001c0001t0076g0108 a0001c0001t0077g0198 a0001c0001t0084g0151 a0001c0001t0087g0206 a0001c0001t0088g0018 a0001c0001t0089g0143 a0001c0001t0092g0144 a0001c0001t0093g0102 a0001c0001t0094g0101 a0001c0001t0096g0103 a0001c0002t0006g0117 a0001c0002t0009g0181 a0001c0002t0060g0183 a0001c0002t0082g0186	54	214	0.2523	-2029	c.692 others(16): Show c.692-2783_692-755del	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4			INFO_REALIGN_3_PRIME	chr16	TogoVar
AZGP1_chr7_99961730_99981031	99967078	GTCCTGCG others(2020): Show GTCCTGCGGGGGCACTGCCACCACCACCCAGGACTGGTAAGTGCCATTTC CATTGTGAAGAACATCTCCCCGTAACTCAGGCTCCTGCACCTCGCCGGCC CGAGTCCAGTGCACATCAATTTTCCCTGGGTAGAAGTCGTAGGCCAGGCA CTTCAGTTTCTTCTTTTCTCCTGGGGCCTGGTGGCTGGTGACCACCACAG AGGGAGGATCTGTGGAGGGATAGAGTGTGACACTGCAGGCTTGAGGTGGA CTTCTCCCGGCCCAGGTCTCTTCCTACCCCCACCCCTGGATGTCAGCGAT CAGCAGAGCTCGAAGCTCTGTACCTGCCCACCCCCAGCCCCGGGAGACTT TCCAGAATATCAGGGAAGGCTGACGCTTTCCCTCTTGCCCAATCCCCACC TCACCCATGTATTGACTCTGACGGCAATAAGTTGTGAATGCTCCGTGTGC TTCTCCATGTTTTCCCACATCTCAGTGGGCTTTGGAGTTCTGTCCCCCAG TCTCAGTCCAGCTGCTTGGTTCAGCCCATGCCTCTATCCAGCAACCACTT CCCTGCAGCACTGCACAATCCTGAGTCTCACTACGTCTCCAATCCAAGTC TCAGCTTGCAGCCATCAATTCCGCTCACACTGGCTTGCTCTTGTCCTTCT GGGGCTGACATTTTACACGCCTCCCTTCTCTCCACCACCCAGATGGGAGG CATCATTGTAGAGATAAAAAACGATGGGATTTGGAATCTGAAATCTGGAA TTTGAGTCCCAGCTCTGCCTCTTACAGACAGTGTTACCCTCACCTCCCTA ACCTCAAGCTCCTTGTCTGTTAATTGGAGATGATTTGGGGACACTCATCA AGAAAGAATGGCCTTCCTGGCCCATTCTGCCTGAAATTTTGATGATGTTC TTTTTGGACCACAAATTATATTATCCCAGGGAAGGAATAAATCCTAAAAG ATGAAAGCTGGGGGTCTGAGGGACATCCAGGAACAGATGAGACCGGACTA AGATGTTGCCTGAGCTCCTAGCCTGAGATCGTCTTTTATTCTGGGCTCAG TACTGGGGAGCAGGAAGCAGTGAGTACCTTGCCGGTCCAGGATATTTTTG CTGTATTTCAGGTATTTCCGCAGAGTCGCAGGGCACTCCTCCTCCAGGTA AGCCTTGGCCCGCTGCACGTAGACTGGTTCTGCCTCCCACTTCTGCTTGG TTATCTGGGCTGCTGGGTCGAAGGGGACCCAGGCTGGGATTTCTTTGTTG AATTCAATGTAGTCCTTTCCATCATAGTAATATTTCCAGAATGCTCCGCT GCTTCTGTTATTCTCGATCTCACAACCAAACCTTCCCTGCAATACGTGAG ACCCTGAAAACTCCCCCGACCCCACAGAGAGACAGTCAGCCTGGTGAGAA ATTTATCAAAATAACTCTTAGTCTTGCACATTGGGCAACCCAAAAGAAAT AAAGGTTTTTGCAATTCAAGCATGCAATCCCTTTATCAAGACAAATAGGT TATTACTCCAATATATACAACAGACAGAGAGGGGCTAACTCAGTTTGGTT TGGCATTTCAGGTTTGTCTCAGATGAGATATGTTCCTCCTTAAGAGAGCT ACAGCCTGGGCGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAAGC TGAAGCGAGTGGATCGCTTGAGCCCAGGGGTTCCAGACCAGCCAGGGTGA TATGGCGAAATCCCACCACTACAAAAAATATAAAAATTAGCGCAGCATGG TGGTGCATGCCTGTAGCCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATC ACTTCAGCCTGGGAAGTCAAGGCTGCAATGAGCCAAAATCACACTACTGC ATTTCAGCCTGGGTGACAGAGTGAGACCCTATCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAAGCACCAGGCCCAGTGGCTCACACTTGTAATCCCAGCA CTTTGAGAGGCTGAGGAGGATGGATCACCTTAGGTCATGAGTTCGAGACC AGCCTGGCCAATATGGTGAAACCCCATC	G G	exon_loss_variant exon_loss_variant	HIGH	NA18952.hp2 NA18984.hp2 NA18952.hp2 NA18984.hp2	a0000 a0000	a0000c0007 a0000c0007	a0000c0007t0001 a0000c0007t0001	a0000c0007t0001g0091 a0000c0007t0001g0092 a0000c0007t0001g0091 a0000c0007t0001g0092	2	432	0.0046	-2027	c.338 others(11): Show c.338-675_821del	AZGP1	ENSG00000160862.13	transcript	ENST00000292401.9	protein_coding	3/4	832/1181			chr7	TogoVar
DHRSX_chrX_2214506_2505976	2280270	AAGAGAGA others(2019): Show AAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGG AGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGG AGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGA GGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAG GGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAA TGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGG GAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGA GAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACG AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGG GAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGG AGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGA GGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAA GAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAG AGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAAC GGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGA AATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGA GGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGA GAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACG AGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGAT GGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAG GAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGG AGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATG GGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGA GGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGA GAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAG AGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAG ATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGA GAAGGAGGAGAGGGAGGAAATAGGGGAAAGAGAGAGAAAGAGAGATGGAG AGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAG AGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAG AGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGG GGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGG GCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGA GAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAG GGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGAT GGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAG GAAGAGGAGGAAATGGGGGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0035 a0002c0002t0004g0035	1	50	0.0200	-2026	c.388 others(18): Show c.388+9206_388+11231del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6				chrX	TogoVar
DHRSX_chrX_2214506_2505976	2280317	GGGAGAGA others(2019): Show GGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGA TGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAA GGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAA CAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGG AAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAG AGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAA AGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAA ACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAA GAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAG AGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAG AGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAG AGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAG AGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGG AAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAAC GAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAA GAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAG AGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGG AACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGA GGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAG GGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAA AGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAA ACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGA GATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAG AAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACG GGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAA ATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAG GGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAG AGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAAC GAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGA GAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAG AGAGAAGGAGGAGAGGGAGGAAATAGGGGAAAGAGAGAGAAAGAGAGATG GAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGG AAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGA GAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAGGAGGAAAT GGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGG AGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAG AGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGA GAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGA GATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAG AAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACA GGGAGAGAGAGGGAGGGCAAACGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0031 a0002c0002t0004g0031	1	50	0.0200	-2026	c.388 others(18): Show c.388+9159_388+11184del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6				chrX	TogoVar
IQCH_chr15_67249786_67506804	67355503	TGGTGTGA others(2019): Show TGGTGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATTGTGCCACT GCACTCCAGCCCGGGCGACAGAGCAAGTCTCCATCTCAAAAAAAAAAAAA AATTAGTAATAACTACCACAAAAGCATACAAGTTTGTCCAGAAAGACAAG GATTTTTTCCTCTCCATTAACTCTGGCAAAATTTACCAAACAGATTTTTC CAGCAGGGAAATTGAGTAGCAAAATAGGCAGTGCATTAGGATACGGTTTT GTAAAAATGCAGACACATTCCTCAAATGCATGTGTCTCATAAAATCCAAG GCCACATGAAATAATAATTTAGTGATAGCATTTCTGCAGACAGCTAAGAA AATTCTTATTGATATCATTAACTGTGGATTAGCCATGTGAAATTACTTAT CCTTGAGATCTTTGTCCTACCAAATTGTATTACAATTTTACTAAAATCCT TTAAAAGTTATGCCCACTTGAAAATTTCTCAGCTGCTATTTTGTTTGAAC ATGGGAATTTAGCCATAAATCTCACTTTTCTGCAAGAACCTGAAAGTTAA ACAAAAATTGTACTGAGTCTGCAGACAATAGGAATAACAAATTTTACTGG TGAATCTGTGGATTCAAAGCAGGCTGAACACAGAATGTGGACTTACCTTC AGAAGTGGGAGAGCAAACTCCAAAGTGGACACCAGGGAAGGAGAGCATAG AACTGAAGGCAAAAACTATACCCTTAAAATGGGGTCTTCATACACTACTG GCCAGGGGATAGTGAGGACTACAAGTCACAGGGAAGCTTGCCGGAAGCCA GGGAAACCAGAGGGTTGTAAAAATGGGTTGATCAAATGCAACAAAGAAAT CCCTTTTGTGAAGGTGAGTTTCACTGAAAAGGCTCTGCTATTTTTCCTAC TCTTTAAAAAAGAGCTGAAGATATTCCTTGCAGCTCAGTTGAGGCAATCT AAGAGAACCAAGTCCTCAAAGTGAGATTCTAAATTATATATTGATATCCT TTACTAGCATGCTGTTTTTGATCAATATCTGTCAATTCCTTCTAAGATTG TTGTTATAGAAAACTAACAGAAAAGGGGGTTGAGCTGAAGGAATTGAGCT GAAAGAAGCCTCACTTCTTTTATTCAATTAACCATTTAAATAAATTTTTT GTTCTCTTTCTTGGGCTGAGTAGTATAAGGATTTTTCTCCCCTGAGAATG TCAGACTTGGGCTTTTGGTAAAGGGCAGTCAGGTTTGCTGCTAGGCAGTA GGAGAGATGTGATTGAGAGCATTATCTAGCATGTGGGCCCATTCTTCCTC GACCATGGGCTAGGTGTGTTCTCTAAAAGTTGTTGCTTATAGACTTAACT AATTTCAAAAATAATCTTTATGGTGCTTTTCACTTGTGTCACTTCCCTCA GTCATTTAAATTTTTTAGAATCTTTTTTTTTACACAATAGAATAGTCCAT ATGTAGCTATGTTAAATCACATTTTACATGAACCTGGGAATCTGGCTATT TAAAGAAATCTTCTAACAAAGCATTTTATAAGACAGATATTACTCTCTAA TTTGCCTGCTTTTAAAATGTGCCTGCTTTTAAAATTTGCCTTTTTATCTA GGCAGTTTGCATAAGGCGGGCTGACTTTGTATTCTAATAGAACTGTTGCC CTCTCATGCTCTTGGCTTCCTTTTGAAGTCAGTGATCATAGCTGTTTCAT TGAATGAATACAGAAAGAAAGGTAGTGAGCGCACAGTGGGTGACAGAGCC ATTTGACTTTCAAGGTGCAAACCCAATAGCATCCAACCAGTGACTCAGCC TCTTCTTCTGGAAAAGGTAACATGTACTATCTTCATCCACAGCCACTTTC ACTATACCTCGGGAACCACCTCCATCTCCAGCAGAAGTGAAGTTCTTTCC CAAGAAACAAAGATCAAAGGTATTTATATTCCTCACTATAGAAAGAAAAT TATTCTTATTTACAGCACTTTCTGTGAGATATTTGGTGATTTACACGTTA TTGAGTTGTACCTTCAACATAGAAATA	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01081.hp1 HG01081.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0048 a0005c0008t0001g0048	1	276	0.0036	-2026	c.638 others(16): Show c.638-1841_714+108del	IQCH	ENSG00000103599.20	transcript	ENST00000335894.9	protein_coding	7/21				chr15	TogoVar
SMKR1_chr7_129497531_129517918	129501338	CGTCACCT others(2019): Show CGTCACCTCCTCAGAGAGGCCTTCCCCAGTCACCAATCTAAAAGAGCACC CAGTGGTCACATCAATTTAATGCAATATGCCATACTGTCCCTATCACTTT TAATGTCTGCCAGGCCCTCCATTTCAGCCACGACCACCTCCCCCAAATCA CCCCTTAAAAGAACAAGGACTTTGCCTCATTCAGAGCTCAATTTCCAGGG CCTGGAAGAGTGTCAGGCACGTGGCAGATGCTCAATAACTGTTGAATAAA AAGGAATGATAGGCCGGGCAGTGGCTCACGTCTGTAATCCCAGCACTTTG GGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGAAGTTCGAGACCAGCGT GACCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGG GCATAGTGGTACGCATCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGG AGAATGGTTTAAACTTGGGAGGCGGAGGTTGCAGTGAACCGAGATGGCGC CACTGCACTCCAACCTGGGCGACAGAGAGAGACTCGGTCTCAAAAAAAAA AAAAAGGAATGACCAGTCATAAAAAAGAATGAGTCGTACCACCCGAAGTG TAGACTTCACCTGCAGGGAGGGAGGCTGGAACTGGCAAGGTTGGAGGCAA AACTGTACCTACTGTACCTTTCTCGCCCAATCCTACCTGCACATGAACTC CCTCCCCACCCCTTTAGTCTCTCGGGCCCTTACTCTCTTTATCCGGCTCT TTTGCAAACATTTCCCATGATATTCTCCCTTCACCGTCACAGTCCTTATG CTCGTTTCCCAAAAGAGCTTCTCCGATGATCTCTCCCAGGTTGGCCGAGT GAGCGGGCCTAGCCTGCGCTCTCACCCCAGTGCCACCCCAGTGGGAGCGC CGCCCGCGCCCGCCCCCTCGCCCCGCGCCCGCCCCCTCGCCCCGCGCCCG CCCCCTCGCCCCGCGCCCGCCGCTCCGGCAGCCCAAACCCAGACGCTAAA GCGCCGAACTGGGTTTCCGGGCGCTGGAGGCCGCGGTCGGCCTCGTACTA GGTGACGGCCCATCCCGCGCGCGCAAGCCCGGAACCCCGCTCCGCTCACC CTCCGCGCGCTGCCGCTTTGCCCTGGCAACGGTAACCACGGCGAGGCCCT GCCCCACGCCCGGTGATTGTGCGCGCGGCCCCGCCCCCGAGGCGCACGCC GGCCCAGCGCCCACAGCTGCGGCGGCCTAGGTGCCGCGTGGGGCAAGCAG GTGCCTCGCGTCCAGGCGGCTCCGCGGCTGGCTGCCTCCCGAGCCGGCCG CGCTCCTCCCAGCGAGGCGTGGCGGGGAGGCGTAGTGAGGCTGGGCCCGT GGCGGTTCCCTGAGGAGGGCCGAGAAGGGGCCGGGGGTGCTAGGGGAACG GGCGCTGGGGGCAGCGGCCCCGGTGGATGCTAAGGGCTTCGGGATCGGGA GAGTCCACCACGCCTGCCTGCTCGGCTGAGAATCGCCATGGTAATCCCCG TCTCCCTAAAGTACCCGGGGCCAGGGCGCGCGCCGTGGAGCCCCAGGCTG TCCCGGAGAGGCGCGGGCGCCGAGGTCACCGCCTCTCCCTGGGGTCGACC TCAACGCGTGGCGAAAAGATGGAGGGACAAGGGGTGCCCGGCGGTCCGCG CCTGCTGGGGGCGCAGCAGCCGCGGAGTCAGGCCAGCCGTCTTTCCAGGT TTTAGGTCGTGGTCCTGTTGAGCAGCCCCCACACCCAGACGGTTGATGTG GAAAATAAAGGGAGGGTGGCACCGTGGTGTGGCACGTCAGGGCGCCAGGC CATGCCCACAGTGACGGGTCCGAGCTGTTAGCTGCCGTAGCCACCCTGGG TGCCCGCGCGGGATTCTCCACTGCTCTGCAGACTCAGGAAGCAGAGAGTG AGCCTGGTACCACCACCTTGCTGTCAACAGCATTCCTGTTCTCAGCCCTC ATCCAGTCACTTACGACCTCCTTCCAACCCTCGCTGCTCTTTCCAGAAGG GCTGTGACCTTCCAGCCCCTGCCCCAA	C C	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG02486.hp2 HG02572.hp1 HG02717.hp2 others(2): Show HG02486.hp2 HG02572.hp1 HG02717.hp2 HG02809.hp1 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0013 a0002c0002t0003g0013	5	422	0.0119	-2026	c.-14 others(11): Show c.-1486_3+537del	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding	1/2				chr7	TogoVar
PEBP1_chr12_118131124_118150584	118131321	CGAGTAGC others(2018): Show CGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAAGTTGTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTAACCTCGTGATCCACCAGCCTCAGCCTTCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGACATAGAGGGTATTTTTAAATGCTTT GAAATTCTCAAAGAGAAAAGGGAAAAAAAAAGTCTCAATAGGAAAAATGT GACAAACGGAATCCCGGCGACCTGTTAATGGTTAATTCTCACAACAGTGT CTCAGTGCATATCCTTGGCCAGCAGCCAGCACCTCGGTCCCCTGGAGTGG CAGTTCCAAGTCACTGGCATGGCCACAACAGTTTCTGAACTCGAGCTAAG GACAGAACTTTGTTTTTGTCCAAAATTCCCTCATTATTATTTTTGTTTTG TTTTGTTGTTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGCCTGGAGTG CAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCG ATGCTCCTGCCTCAGCCTCCTGAGTAGCTTGGATTATCCCAGGCGCTCAC CACCACGCCCGGGTAATTTTTGTATTTTTCACAGAGACAGGGATTTCACC ATGTTGGCCAGCCTGTTCTCCAACTCCTGACCTCAGGTGAACCACCCGCC TCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCCCCTGGCC CCAAATTCCCTCATTAAACAGTTTCTCTTGCAGAAGCACAATGAGTGAAA TTGGCATGAAGCCATTTCACTAAATAACCACATCAGTGAATTTCCTGGTC CTCACTCAACAAACAAAAACAACTGGTGGTTTTCCAGGCTGGTTCATTTG AGTCTACCCTCAACCAGCACCTGCCCAAGCTTCTGGCCTAGAAGAGGCAC ACGTGGCAGAAATACAAGCAGACGGCAGAATAAATAGCATCAATGAAAAG AGTCAAACTTTGTAAAACATTTGAAGAGATTCATTCTGAGTCAAATATGA GTGACCATGGCCTATGACCCAGCCCTCAGGAGACCCAGGGAAAATGTGTG CAAGGTGGTTGGACACAGCTGGGTTTTATACATTGCAGGGAGACATGAGA CAGCAATTAAATACATATAAGATATATATTGGGGCCAGCTGTGGTGGCTC ACATCTGTAATCCTAGCACTTTGGGAGGCTGAGGCCAGTGGATCACTTGA GCTCAGGAGTTCGAGACCAGCCTGGGCAACGTGGCAAAACCCTGTCTCTA CTAAAAATACAAAACGTAGCCAGGCATGGTGGCACACACCTGCGGGAGGT GGGAGGACCGCTGGAGCCGGGAAGTTGAGGCTGCAGTGAGCCGTGATTGC ACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAACACA AAACAAAACAAAACAAAACAAAACAAAACAAAAAAACAAAACCTTGGTTT AGAAAGGTAGGATAACTTGAAGTGGGAGGGCTTTCAGGTTATAGGTAGAT TTTAAAATTTTCTGATTCACAATTGGTTAAAAGAGTTACTATCAATAGAA AGGAATGTCTGGGTTATGATAAGGGGTTGTGGAGTATCCCCCCCAAAAAA AAGCCTCCAAGTAGCAGGCTTCAGAGAATATATTGTAAATATTTCTTTCT TTTTTCTTTTTTTTTGAGATGGAATCTCACTCTGTCGTCCAGGCTGGAGT GCAGTGGCACAATCTCGGGCTCACTACAACCTCCGCCTCCCAGGTTCAAG CAATTCTCCTGCCTCAGCCTTCCTAGTAGCTGGGATTACAGGTGTGTGCC ATCACGCCTGGCTATTTTATTTTATTATTTTATTTTATTTTATTTTATTT TATTTTAATTTTATTTTTGAGACGGAGTCTCGGTCTGTCACCCAGGCTTG GAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCGGCCTCCCAGGTTC ATGCCATTCTTCTGCCTCAGCCTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02970.hp2 NA20300.hp1 HG01109.hp1 HG02970.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	3	426	0.0070	-2025	c.-48 others(11): Show c.-4888_-2864del	PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding			4802		chr12	TogoVar
SPATA5_chr4_122918078_123324433	123001925	CTGTGTGG others(2018): Show CTGTGTGGGTGTCTAAGTCTCTTTGTAGGTCACTCAGGACTTGCTTTATG AATCTGGGTGCTCTTGTAATGGGTTCATATATATTTAGGATAGTTAGCTC TTCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTC TTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCA AGCCCTGCCTTTTTTTGTTTTCCATTTGCTTGGTAGATCTTCCTCCATCC TTTTATTTTGAGCCTGTGTGTGTCTCTGCATGTGAGATGGGTTTCCTGAA TACAGCACACTGATGGGTCTTGACTCTTTATCCAATTTGCCAGTCTGTGT CTTTTAATTGGAGCATTTAGTCCATTTACATTTAAAGTTAATATCGTTAT GTGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTTATTTTGCTCATT AGTTGATGCAGTTTCTTCCTAGTCTCAATGGTCTTTACATTTTGGCATGA TTTTGCAGCGGCTGGTACCGGTTGTGCCTTTCCATGTTTAGTGCTTCCTT CAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTT GCTTGTCTGTAAAGTGTTTTATTTCTCCTTCACTTATGAAGCTTAGTTTG GCTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAA TATTGGCCTCCACTCTCTTCTGGCTTGTAGAGTTTCTGCCGAGAGATCCG CTGTTAGTCTGATGGGCTTCCCTTTGTGGGTAACCTGACCTTTCTCTCTG GCTGCCCTTAACATTTTTTCCTTCATTTTAACTTTGGTGAATCTGACAAT TATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTTTTGTTGTCT GTATTTCCTGAATCTGAATGTTGGCCTGCCTTGCTGGATTGGGGAAGTTC TCCTGGATAATATCCTGCAGAGTGTTTTCCAACTTGGTTTCATTCTCCCC ATCACTTTCAGGTACACCAATCAGATGCAGATTTGGTCTTTTCACATAGT CCCATATTTCTTGGAGGCTTTGTTCATTTCTTTTTATTCTTTTTTCTCTA AACTTCCCTTCTTGCTTCATTTCATTCATCTCATCTTCCATCACTGATAC CCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCATTCTTCAC GTAGTTCTCGAGCCTTGGCTTTCAGCTTCATCAGCTCCTTTAAGCACTTC TCTATATTGGTTATTCTAGTTATACATTCGTCTAAAGTTTTTTCAAAGTT TTCAACTTCTTTGCCTTTGGTTTGAATTTCCTCCTGTAGCTCGGAGTAGT TTGATCATTTGAAGCCTTCTTCTCTCAACTCGTCAAAGTCATTCTCCGTC CAGCTTTGTTCTGTTGCTGGTGAGGAGCTGCGTTCCTTTGGAGGAGGAGA GGCGCTCTGCTTTTTAGAGTTTCCAGTTTTTCTGCTCTGTTTTTTCCCCA TCTTTGTGGTTTTATGTTTGTTTGGTCTTTGATGATGGTGATGTACAGGT GGGTTTTTGGTGTGGATGTCCTTTCTGTTTGTTAGTTTTCCTTCTAACAG ACAGGACCCTCAGCTGCAGGTCTGTTGGAGTTTGCTAGAAGTCCACTCCA GACCCTGTTTGCCTGGGTATCAGCAGCGCTGTCTGCAGAACCGTGCATTT TCATGATCTGCAAATGCTGCTGTCTGATCATCCCTCTGGAAGTTTTGTCT CAGAGGAGTACCCGGCCGTGTGAGGTGTCAGTCTGCCCCTACTGGGGGGT GCCTTCCAGTTGGGGTGCTCGGTGGTCAGGGGTCAGGGACCCACTTGAGG AGGCAGTCTGCCTGTTCTCAGATCTCCAGCTGCGTGCTGGGAAAACCACT GCTGTCCTGAAAGCTGTCAGACAGGGACATTTAAGTCTGCAGAGGTTACT GCTGTCTTTTTGTTTGTCTGTGCCCTGCCCCCAAAGGTGGAGCCTACAGA GGCAGGCAGGCCTCCTTGAGCTGTGG	C C	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18982.hp2 NA18966.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0091 a0001c0001t0008g0092 a0001c0001t0008g0091 a0001c0001t0008g0092	2	262	0.0076	-2025	c.186 others(21): Show c.1869+22542_1870-24234del	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15			INFO_REALIGN_3_PRIME	chr4	TogoVar
DLGAP2_chr8_732628_1713476	1393580	TGAGTCGT others(2017): Show TGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAG TCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGT GTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCTTCCGGAGTCGTGTAT TGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAG TGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCT TACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACT GAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGC GCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCA CCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTC CTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCG TCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCT CCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCTGG AGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTC GTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCTGAGTCGTGT ATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCTGAGTCGTGTATTG AGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTG CTTACTGAGCGCCACCTCCTCGTCCTCCAAAGTCGTGTATTGAGTGCTTA CTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGA GCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCGC TCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGTGCCACC TCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCACTCCCTCCT TGTCCTCCGGAGTCGTATATTGAGTGCTTACTGAGCGCCACCTCCTCGTC CTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCC TGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAG TCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGT GTATTGAGTGCTTACTGAGCGCCACTCCTTGTCCTCCGGAGTCGTGTATT GAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCTGGAGTCGTGTATTGAGA GCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTT ACTGAGCGCCACCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTG AGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCG CTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCAC CTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCC TTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCAT CCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTC CAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCGGG GTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCG TGTATTGAGTGCTTACTGAGCACCACCTCCTTGTCCTCTGGAGTCATGTA TTGAGAACTTACTGAGCGCTCCCTCCTATGTCCTCCGGAGTCCTGTATTG AGTGCTTACTGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGTG CTTACTGAGCGCCACCTCCTCATCCTCCAGGGTAGTGTATTGAGTGCTTA CTGAGTGCCACCTCCTCGTCCTCCA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02976.hp2 HG03486.hp2 others(2): Show HG02258.hp1 HG02976.hp2 HG03486.hp2 HG03492.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0009 a0002c0001 a0001c0002 a0001c0009 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0001c0002t0022 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0022 a0001c0009t0012 a0002c0001t0005	a0001c0002t0001g0015 a0001c0002t0002g0021 a0001c0002t0022g0034 others(2): Show a0001c0002t0001g0015 a0001c0002t0002g0021 a0001c0002t0022g0034 a0001c0009t0012g0006 a0002c0001t0005g0028	5	40	0.1250	-2024	c.107 others(21): Show c.107-107667_107-105644del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14			INFO_REALIGN_3_PRIME	chr8	TogoVar
USP32_chr17_60172327_60397133	60334536	CAAAAAAT others(2017): Show CAAAAAATTAGCCGGGCGTGGTTGCAGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCCTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGCGAGACTC CGTCTCAAAAAAAAAGAAAAGAAAAGAAACATAAACAGTTGATAACACAT ATTATATGCCTTCCACAGTGTATTCTGTGTATAAGTAGACCTGCGCTATT CAAATCCATATTGTTCAAGGGTCAACTGTGTCTAGCTTTAGCAGCTCAAT ATATATACAGAGATGGGGTTTCACCATGTTGGTCAGACTGGTCTCAAACT CCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCAGCCACGTTTTTTTATTTAACAGTTGCTGAT GTTTCTTGTTATTTTTTAAGAGACAGGGTCTCTATTGCCCAGGCTGGAGT GCAGTGGCATGATCACTGCAGCCTCAATCTCCCAGCCTCAAGTGATCCTC CCATCTTAGCTTCCCAAGTAGCTGAGACTACAGGCGTGCAAGACACCCAG CTAATTTTTTTTATTTTTTGTAGAGAGGAGGTCTCACTATGTTGTCAGGG CTGGTCTTAAACTCCTGGGCTCAAGCAATCCTTGAGATTCCGAAAAGTGG TGGGATTACAGGTGTGAACCACCACACCCGGCCCTCCATTTGTATCCTTG CCTGAGTCCCTGCAAATATTAAGTATGTGTCTGTCTTTCTTCATCCAAAC ACCCACTTATTCCTACACATAAAATCTTTCTTCTATGCATAAAACAACTC CATTCCTAACAAAGACTTCCACAAAGTCCTATCCAGTTCCTACATTCAGG TCCAAGGTCTCTATGTGATTTTCAATTCTTTCCACTAACTCTAAAGGTGA TTCATTGTGGTCTGGTGACCTATAAACTAAAACACAAGTTGTACCTCTTC TTTTACTTGTATTATGAATGGTGAAGTAGAAAAAAATATATCTACAATAG AAATTTCCATTCAGAAAAGGGAAAAGTGGAAAACATACGGTAGTCATGAA GGTAAACTGCCAGGGCAAGAGAGTACGTTCATTGGTCAGCCCAGTTACAA GTCCAGGTTTTGTTCCCTGAGACAAAAACCCTGTCTATAGCCCTCCCTGG CCCTTAGCCTTATTCCTTAGCAATTATTTTTCAAGAAGTGGGCAATGGGT CATGTGCTTTTGTTGAAGGTTACACAGATCTTGTTGTTGCATTGAATTTT GCAACATGTATAACCAAATTCTGATTAAGTTTTATCAGCTAAATTTTGGC AGAGTCTGTAACACTGCCAGTTATAAACTTAACCTTATTTTCCTTTATAA TACCTATTAAGGATAGAAGTTTCTCATAAAGACTCACTTGGATAGGATCC CAACTGTTTTTATCGTCTACTACACTAGTCATGTCAGTAGCTCGGTTAAT ACACCAAGAATTTGAAATAAGTAATTATACATAAGGTATTTTCTGTAAGA GTGTTTTTTAGTATGAATTACTTCTTTAACATCTGGCATACCACTTAGAA CATCCATAATCTATGTAATGTTCTTGATGTAAAGTTTTCTACAAGGAGTT CACTAGTCCCATTACGCTTAACTATATGTTAGATCTTCTATTGTGAACTC TGTTTTTCAATAGCTTATGAAGCTGTTTAAATTTGCTCTAGCTTAAAACT TGACAACTAAGGACCATCAAGATAATAATGCACATATTTTTTAAAGTTCA TATATGTTTACCAGAAGAGAGTGATATACTCTGTTGTACTGTCATCTTAC AGAAGCCTTGAAATCTTTTTTGTCCTGTCTTACAAAAAGAAATGAATTGG CCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAAACGGTG AAACCCCGTCTCTACTAAAAATACA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG00738.hp1 others(48): Show HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01346.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG02004.hp2 HG02040.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03834.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp2 NA18945.hp2 NA18946.hp2 NA18953.hp1 NA18957.hp2 NA18971.hp1 NA19030.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(48): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0079 a0001c0001t0001g0147 a0001c0005t0001g0017	51	152	0.3355	-2024	c.186 others(18): Show c.186+8921_186+10944del	USP32	ENSG00000170832.13	transcript	ENST00000300896.9	protein_coding	2/33				chr17	TogoVar

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