Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DMD_chrX_31114222_33216549	31196826	AAAAAAAA others(1190): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTAATCAG TTGACCCGGGGAATGCTGTCTAACCAGCCAAAAGTCTCCTGATATGGCAT TTTAACATTTGCAGAGAAACAGAATCTCCAGAATCTCTAAAATGCAATCC ACAGATGATGTTTTGTTATAGATAAAAGCAACTGTTAACATTGGCAGGAT ATTTTCATGCCACAACACACTTTAGATAATCATAGCTAACATTCACTGGG CACCTTCTATGTATCCACTACAGCTCTTAAGTGCTTTGCTTCTATTGGTT CATTTAATCCTCACAATCACCTCCAGGAGTTCAGGGGCCAGGAAGGTTAA GAAATGTGTCCACAGTCACACAGCCAGCAAATAGCAGAGCTCAGATTTGG ACTCAGGCACAGTTCGGTTTCAAAGCCTATGCACTTAACCACTCTGCCAG TCACTTCTCCAGATATTCTGGAATGCTTTCTCATTTATGTGTTACTGATC CTCCCACCTCAGTCTCCTGAGTAGCTGGGACTACAGGGGCATGCCACCAT GCATGGCAACAATAATACATTGTATATTTCAAAATAACTAAAAGAGTAGA ATTGGGAATGTTTCTAACACAGAGAAATACTTGTTCTCAACAGTTGAGAC TGTAATTTATTCTCATTTTCATATCATTCTACATTATTACAACAACTGTG CATAGATGGTATTCATTTTTGTCATACAAATAGAGAAATTCAGAAGATAG ATGGAAAAGCAACTTACTCATTTGGAATACTAAGTACAACAGGAGGCAGA AAACAGATGTAAAATAAACAGATTTTGACACTCCAGCTCTCATAGGTGAA GCATATTGAATATAAAGTTGGTATACTTGACGTTATCTAAACAATAAAGT CCTTAAAATGTTTACTGAAGAAGATACTACAAAATCGAAACCACAAAAAG ATATCTGCACTCCCATGTTGACTGCAGCATTGTTCACAATAGCCAAGATA TAGAATCAACCTAAGCGCCCATCAGTGGATGAATGCATAAAGAAAATGTA CTATAAACACATAATGGAATATTATTCAGCCATAAAAAATGAAATCCCAT TATTTGCAGCAACATGTACGGAACCGGAAGACGTTATGTTGAGATCAGCC ACACACAGAAAGACAAGTATCCCATGTTCTCACTCATGTGTGGGAGCT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0017 a0009c0013t0001g0017	1	126	0.0079	-1197	c.980 others(19): Show c.9807+5938_9807+7134del		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	67/78						chrX	TogoVar
MTMR12_chr5_32222007_32317939	32260004	CCAGCCTG others(1190): Show CCAGCCTGGGTGACAGAGTGAGACTCAGTCTCCCAAAAAAAAAAAAAAAA AAAGCGGTACCTGGGGTAAGATCCGACTGATGAAGTGGAGTTAATTATAC TTGTGCAGCTAGAAGCAAAAAGGACTTCCAGACAGGAGCCTGTGGGTAAG ACCTGTGGCAGGGAGGTCAGTATGGCCAGAGGGGTGGGACACAAAGCTGC AGTCAAACCATGAAGGGCCTTGAGAGTGCTTGTTGAGGGCTCTGTTCTAT ACCAAGAACAGCGGGAAGCCACTGAAGCCAGGGACAAGTGCCATGAGATG CATGTGGAGTAGCCTGCTTGGCATGCGACATGGAGAATGGATGCTGGGGC ACCAGTGGATGGGGGAGACCACGGAGCAGCGACTACAGTGGTCTGGAGTG AAACAAACCACAGCTTTTCCTGTATATTTCTGACATGCTAACACCTATGC AAATGCCAACTGATTAGTATGTGGCAGGATTTTTTTTAAAAACAATTCTG GGAACTTATGTTAGTATCAACATCTTATTACAAACTATCATCTCCTAGGA GCAGGGGTTTCTAACTTCTTTCTGAGCAAGAGCTAGCTTTATCCTTTCAA GCTTTAAAACCAGGAAAGAGAAAAGAACAGGGTGTGGCTGACAATGAGGT TCTTGGTGGGGGTCAGGACCCTGGCAGGCCCTTCCCCACTGCCACCACAG CTCACACTGTGAAGGCACTGCAGGGCGGGGGGGAGGGGGACCAGTGGCAG CAACCTGATAAATACTGAGAGTGATCAGAATCAAAACTGATTACTGAAGA GGCCTATCAGAACCATGATACAAAGAGCTCTACAAAAATACAAAGTTGTA TGAATCTGTTAGCAGGGTGTTAGGGAGTATGTTCCAAAATGATAACATTC AAGTTTCTGAAAACAGATTATACAGTCATGCTTTAAAAATGTAGGTCAGC CAGGCGCAGTGGCTCACGCGTGTAATCCCAGCACTTTGGGAGGCTGAGGC AGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATTGT GAAACCCCATCTCTACTAAAAATACAAAAATTAGTGGGGCGTGGTGGCAG GCGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCACTTGA ACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATAGCACCACTGCACTT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01496.hp2 HG01934.hp2 others(16): Show HG01361.hp2 HG01496.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02148.hp1 HG02293.hp2 HG03453.hp1 NA18941.hp1 NA18959.hp1 NA18964.hp2 NA18974.hp1 NA18975.hp1 NA18981.hp1 NA18982.hp2 NA19007.hp2 NA19060.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0047 a0001c0002t0004 a0001c0002t0010 a0001c0001t0047 a0001c0002t0004 a0001c0002t0010	a0001c0001t0047g0337 a0001c0002t0004g0313 a0001c0002t0004g0314 others(16): Show a0001c0001t0047g0337 a0001c0002t0004g0313 a0001c0002t0004g0314 a0001c0002t0004g0315 a0001c0002t0004g0316 a0001c0002t0004g0317 a0001c0002t0004g0318 a0001c0002t0004g0319 a0001c0002t0004g0320 a0001c0002t0004g0323 a0001c0002t0004g0324 a0001c0002t0004g0325 a0001c0002t0004g0326 a0001c0002t0004g0327 a0001c0002t0004g0328 a0001c0002t0010g0321 a0001c0002t0010g0322 a0001c0002t0010g0329 a0001c0002t0010g0332	19	364	0.0522	-1197	c.713 others(17): Show c.713+1912_713+3108del		MTMR12	ENSG00000150712.11	transcript	ENST00000382142.8	protein_coding	7/15						chr5	TogoVar
ZNF701_chr19_52565287_52592174	52579008	TGTGCTGG others(1190): Show TGTGCTGGGATTACAGACGTGAGCCACCGCGCCCCGCCGTGCCCATTTCT TTCAGTAAACAGAAATGAAGTGTGTTGTATAGATAAAATAAAAAGGCATG AAAAAAACACTGTACATATATGTTACCAGAAATGCAACATACACAGAAAT AATTCCGACAAAAATAAAAAAAGTTCTAGAGGAGAAGTAGTTTTGGGAAG TGGTTATTGTTGCAGGTATGTTAAAGATCTTAAAGTTGGCCAGGCGCGGT GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCA CCTGAGGTCAGGAGTTCAAGACCAGTCTCAACATGGAGAAACCCCGTCTC TACTAAAAATACAAAATTAGCCGGGTGTGGTGGCGGGCACTTGTAATCCC AGCTACTCGCGAGGCTGAGGCAGAATTGCTTGAACCTGGGAGGCGGGGGT TGCAGTGATCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACGAGAGC GAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATCTTAAAGTTAT AGCATAATAATGAAACCTAAAATTTTCATAACCTGGCCAGGTGTAGTGGC TCATGCCTATAATCCCAGTAATTTGGGAGGCTGAGGTGGGCAGATCACCA GAGGTCAGGTATTCAAATCCAGCCTAGTTAACATGGTGAAACTTCGTCTC TAGTAAAATTACAAAAATTATCCAGGCACGGTCGTGGGTGGCAGTAATCC CAGCTACTCAGGAGGCTGAGGCACGAGAGTTGCTTGAACCCGGGAGGTAG AGGTTGCAGTGAGCTGAGATCGCACCGTCGCACTCCAGCATGGGAGACAG AGTGAGACTCCATCTCAAAATAAATAAATAAATAAATAAATAAATAAAGT TTCATAACCTGCAAAAACTACTTCTCCTCTAGAATTATTATTATTATTTT TTTAGATGGAGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCACGAT CTCAGCTCACTGCAAGCTCCACCTCCCGGGGTCACACCATTCTCCTGCCT CAGCCTCCCGAGCAGCTGGGGCTACAGGCGCCTGCCACCACACCCGGCTA TTTTTTATTGTATTTTTAGTAGAGATGGGGTTTCTCTGTATTAGCCAGGA TGGTCTCAATCTCCTGACCTTGTGATCCATCCACCTCGGCCTCCCAGA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01070.hp2 others(40): Show HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01517.hp1 HG01891.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 NA18962.hp1 NA18974.hp1 NA18978.hp2 NA18994.hp1 NA19030.hp2 NA19043.hp2 NA19072.hp1 NA19086.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0002 a0006 a0007 others(1): Show a0002 a0006 a0007 a0008	a0002c0004 a0006c0011 a0007c0014 others(1): Show a0002c0004 a0006c0011 a0007c0014 a0008c0015	a0002c0004t0004 a0002c0004t0012 a0002c0004t0035 others(20): Show a0002c0004t0004 a0002c0004t0012 a0002c0004t0035 a0002c0004t0036 a0002c0004t0037 a0002c0004t0039 a0002c0004t0073 a0002c0004t0074 a0002c0004t0075 a0002c0004t0077 a0002c0004t0078 a0002c0004t0079 a0002c0004t0080 a0002c0004t0081 a0002c0004t0082 a0002c0004t0083 a0002c0004t0084 a0002c0004t0088 a0002c0004t0090 a0006c0011t0014 a0007c0014t0063 a0008c0015t0004 a0008c0015t0076	a0002c0004t0004g0008 a0002c0004t0004g0034 a0002c0004t0004g0054 others(26): Show a0002c0004t0004g0008 a0002c0004t0004g0034 a0002c0004t0004g0054 a0002c0004t0012g0014 a0002c0004t0035g0029 a0002c0004t0036g0052 a0002c0004t0037g0186 a0002c0004t0037g0189 a0002c0004t0039g0118 a0002c0004t0039g0120 a0002c0004t0073g0029 a0002c0004t0074g0217 a0002c0004t0075g0192 a0002c0004t0077g0064 a0002c0004t0078g0214 a0002c0004t0079g0054 a0002c0004t0080g0134 a0002c0004t0081g0153 a0002c0004t0082g0187 a0002c0004t0083g0091 a0002c0004t0084g0265 a0002c0004t0088g0172 a0002c0004t0090g0155 a0006c0011t0014g0031 a0006c0011t0014g0264 a0007c0014t0063g0184 a0007c0014t0063g0185 a0008c0015t0004g0213 a0008c0015t0076g0211	43	456	0.0943	-1197	c.142 others(17): Show c.142+3003_143-1982del		ZNF701	ENSG00000167562.14	transcript	ENST00000391785.8	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
FRMPD4_chrX_12133473_12729523	12621964	GAAAGAGA others(1189): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG AAGGAAAGAAAGAAGGAAAGAAGAAGAAAAGAGGAGAAGAGAGGAGAGGA AAGGAGAGGAGAGGAGAGGAGAGGTGAACTATAAAAAGAACCAAACAGAA ATCCTGGAGCTAAAGAATACAATGACAAAACTAAACATTTTAATAGCTTC AACAGCAGACTCAATTATGCAGAAGAATCAGCAAATGTGAAGACAGGCTA TTTGAAATTACCCAGTTAGAGGAACAGAAAGTAAAAAGAATAAAAAAGAG TAAAGGAAGCATACAGGTCCTATGAGATACCATCAATTGAATGAATATAT GCATTATGGGAATATTAGAAGGAGAAAAGGAAAAAAGGGGAAAAAGCTTA TTTAAAGAAATAATGGCTGAAACGTCCTAAATCTTGGAAGGGATATGGAC ATCCAGATTTATACAAATCAAAGGGTCTCAAGCAGAATCAATCCAAAGAC TACTCTAAGACACATTATAACCAAATTTTTAAAAGCCAAACACAGACATA GAATATTGCCCCTAAGAGATATCATTTGAGATATATAAATTACATGAAAA ATAATACAAAATAATCACCTTAATGAAGCTCAGTGGGATACAAGAGAACA CAGACCACCAAGAAAAACAAAAAGCAATACATAAACAAAATAAAAAGTTT AATAAAGAAATACAGGTCAGGCGTGGTGATTCACATTTGTAATTCCAGCA CTTTGGGAGGCCAAGGCAGGCAGATGGCTTTGAGCCCAAAAGTTCAAGAC TAGCCTGGGCAACATGGCAAAACCCCATCTCTACAAAAATTAGCCAGATG TGGTGGCCCGAATCTGTAGTCCCAGCAACTTGGGAGGCTGAGGTGGGAGG ATGACTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCCAAGATCACACCAC TGCACTGTAGCCTGGGCAACATAGCCAGACCCTGTTTCAAAAAAAGAAAA GAAAAGAAAGGAAAAAGGAAAGGAAGTAATAAGGAAAGGAAAAAGGAAAG GAAGGGAAGGGAAGTGAAGGGAAGGGAAGTGAAGGGAAGGGAAAGGAAGG GAGGAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAGAA	G G	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	174	0.0058	-1196	c.422 others(17): Show c.422+7085_422+8280del		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12621968	GAGAAAGA others(1189): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGG AAAGAAAGAAGGAAAGAAGAAGAAAAGAGGAGAAGAGAGGAGAGGAAAGG AGAGGAGAGGAGAGGAGAGGTGAACTATAAAAAGAACCAAACAGAAATCC TGGAGCTAAAGAATACAATGACAAAACTAAACATTTTAATAGCTTCAACA GCAGACTCAATTATGCAGAAGAATCAGCAAATGTGAAGACAGGCTATTTG AAATTACCCAGTTAGAGGAACAGAAAGTAAAAAGAATAAAAAAGAGTAAA GGAAGCATACAGGTCCTATGAGATACCATCAATTGAATGAATATATGCAT TATGGGAATATTAGAAGGAGAAAAGGAAAAAAGGGGAAAAAGCTTATTTA AAGAAATAATGGCTGAAACGTCCTAAATCTTGGAAGGGATATGGACATCC AGATTTATACAAATCAAAGGGTCTCAAGCAGAATCAATCCAAAGACTACT CTAAGACACATTATAACCAAATTTTTAAAAGCCAAACACAGACATAGAAT ATTGCCCCTAAGAGATATCATTTGAGATATATAAATTACATGAAAAATAA TACAAAATAATCACCTTAATGAAGCTCAGTGGGATACAAGAGAACACAGA CCACCAAGAAAAACAAAAAGCAATACATAAACAAAATAAAAAGTTTAATA AAGAAATACAGGTCAGGCGTGGTGATTCACATTTGTAATTCCAGCACTTT GGGAGGCCAAGGCAGGCAGATGGCTTTGAGCCCAAAAGTTCAAGACTAGC CTGGGCAACATGGCAAAACCCCATCTCTACAAAAATTAGCCAGATGTGGT GGCCCGAATCTGTAGTCCCAGCAACTTGGGAGGCTGAGGTGGGAGGATGA CTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCCAAGATCACACCACTGCA CTGTAGCCTGGGCAACATAGCCAGACCCTGTTTCAAAAAAAGAAAAGAAA AGAAAGGAAAAAGGAAAGGAAGTAATAAGGAAAGGAAAAAGGAAAGGAAG GGAAGGGAAGTGAAGGGAAGGGAAGTGAAGGGAAGGGAAAGGAAGGGAGG AAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01981.hp2 HG03195.hp1 others(4): Show HG01928.hp1 HG01981.hp2 HG03195.hp1 NA18906.hp1 NA18966.hp1 NA19009.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0003 others(1): Show a0001c0002 a0001c0006 a0002c0003 a0002c0004	a0001c0002t0001 a0001c0006t0001 a0002c0003t0001 others(1): Show a0001c0002t0001 a0001c0006t0001 a0002c0003t0001 a0002c0004t0001	a0001c0002t0001g0047 a0001c0002t0001g0107 a0001c0002t0001g0108 others(4): Show a0001c0002t0001g0047 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0148 a0001c0006t0001g0016 a0002c0003t0001g0023 a0002c0004t0001g0027	7	174	0.0402	-1196	c.422 others(17): Show c.422+7130_422+8325del		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12622011	AAAGAAAG others(1189): Show AAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AAGAAGGAAAGAAAGAAGGAAAGAAGAAGAAAAGAGGAGAAGAGAGGAGA GGAAAGGAGAGGAGAGGAGAGGAGAGGTGAACTATAAAAAGAACCAAACA GAAATCCTGGAGCTAAAGAATACAATGACAAAACTAAACATTTTAATAGC TTCAACAGCAGACTCAATTATGCAGAAGAATCAGCAAATGTGAAGACAGG CTATTTGAAATTACCCAGTTAGAGGAACAGAAAGTAAAAAGAATAAAAAA GAGTAAAGGAAGCATACAGGTCCTATGAGATACCATCAATTGAATGAATA TATGCATTATGGGAATATTAGAAGGAGAAAAGGAAAAAAGGGGAAAAAGC TTATTTAAAGAAATAATGGCTGAAACGTCCTAAATCTTGGAAGGGATATG GACATCCAGATTTATACAAATCAAAGGGTCTCAAGCAGAATCAATCCAAA GACTACTCTAAGACACATTATAACCAAATTTTTAAAAGCCAAACACAGAC ATAGAATATTGCCCCTAAGAGATATCATTTGAGATATATAAATTACATGA AAAATAATACAAAATAATCACCTTAATGAAGCTCAGTGGGATACAAGAGA ACACAGACCACCAAGAAAAACAAAAAGCAATACATAAACAAAATAAAAAG TTTAATAAAGAAATACAGGTCAGGCGTGGTGATTCACATTTGTAATTCCA GCACTTTGGGAGGCCAAGGCAGGCAGATGGCTTTGAGCCCAAAAGTTCAA GACTAGCCTGGGCAACATGGCAAAACCCCATCTCTACAAAAATTAGCCAG ATGTGGTGGCCCGAATCTGTAGTCCCAGCAACTTGGGAGGCTGAGGTGGG AGGATGACTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCCAAGATCACAC CACTGCACTGTAGCCTGGGCAACATAGCCAGACCCTGTTTCAAAAAAAGA AAAGAAAAGAAAGGAAAAAGGAAAGGAAGTAATAAGGAAAGGAAAAAGGA AAGGAAGGGAAGGGAAGTGAAGGGAAGGGAAGTGAAGGGAAGGGAAAGGA AGGGAGGAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0018 a0001c0008t0002g0018	1	174	0.0058	-1196	c.422 others(17): Show c.422+7134_422+8329del		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12622015	AAAGGAAG others(1189): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA AGGAAAGAAAGAAGGAAAGAAGAAGAAAAGAGGAGAAGAGAGGAGAGGAA AGGAGAGGAGAGGAGAGGAGAGGTGAACTATAAAAAGAACCAAACAGAAA TCCTGGAGCTAAAGAATACAATGACAAAACTAAACATTTTAATAGCTTCA ACAGCAGACTCAATTATGCAGAAGAATCAGCAAATGTGAAGACAGGCTAT TTGAAATTACCCAGTTAGAGGAACAGAAAGTAAAAAGAATAAAAAAGAGT AAAGGAAGCATACAGGTCCTATGAGATACCATCAATTGAATGAATATATG CATTATGGGAATATTAGAAGGAGAAAAGGAAAAAAGGGGAAAAAGCTTAT TTAAAGAAATAATGGCTGAAACGTCCTAAATCTTGGAAGGGATATGGACA TCCAGATTTATACAAATCAAAGGGTCTCAAGCAGAATCAATCCAAAGACT ACTCTAAGACACATTATAACCAAATTTTTAAAAGCCAAACACAGACATAG AATATTGCCCCTAAGAGATATCATTTGAGATATATAAATTACATGAAAAA TAATACAAAATAATCACCTTAATGAAGCTCAGTGGGATACAAGAGAACAC AGACCACCAAGAAAAACAAAAAGCAATACATAAACAAAATAAAAAGTTTA ATAAAGAAATACAGGTCAGGCGTGGTGATTCACATTTGTAATTCCAGCAC TTTGGGAGGCCAAGGCAGGCAGATGGCTTTGAGCCCAAAAGTTCAAGACT AGCCTGGGCAACATGGCAAAACCCCATCTCTACAAAAATTAGCCAGATGT GGTGGCCCGAATCTGTAGTCCCAGCAACTTGGGAGGCTGAGGTGGGAGGA TGACTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCCAAGATCACACCACT GCACTGTAGCCTGGGCAACATAGCCAGACCCTGTTTCAAAAAAAGAAAAG AAAAGAAAGGAAAAAGGAAAGGAAGTAATAAGGAAAGGAAAAAGGAAAGG AAGGGAAGGGAAGTGAAGGGAAGGGAAGTGAAGGGAAGGGAAAGGAAGGG AGGAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0112 a0001c0007t0008g0112	1	174	0.0058	-1196	c.422 others(17): Show c.422+7169_422+8364del		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
PCGF3_chr4_700832_775089	744682	CGAGCAGG others(1189): Show CGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGT TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0303 a0002c0002t0007g0303	1	366	0.0027	-1196	c.462 others(15): Show c.462+36_462+1231del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745158	CGGGGTCG others(1189): Show CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCT GCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGG GGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA20300.hp2 HG01891.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0286 a0001c0001t0004g0360 a0001c0001t0004g0286 a0001c0001t0004g0360	2	366	0.0055	-1196	c.462 others(16): Show c.462+527_462+1722del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
SMOC2_chr6_168436184_168672992	168560493	GGCCCTGA others(1189): Show GGCCCTGAGATGTGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATT TTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCA TTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGT CATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGT GTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAG GTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGG AGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGA GGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTG GAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCT TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTT CTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCA TTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTG CGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCAC TGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTC ACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTC TCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGC TCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAG GCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACG AGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACA CGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGA CACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGA GACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCT GAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0054 a0001c0002t0002g0054	1	180	0.0056	-1196	c.637 others(19): Show c.637+11300_637+12495del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560598	GCCCTGAG others(1189): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAG GAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTT GGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTC TTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCAT TCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGC ATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACT GCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGG CTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACAC GAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18960.hp1 NA21309.hp2 HG01243.hp1 NA18960.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0005 a0001c0001t0001 a0001c0002t0002 a0001c0004t0005	a0001c0001t0001g0157 a0001c0002t0002g0052 a0001c0004t0005g0051 a0001c0001t0001g0157 a0001c0002t0002g0052 a0001c0004t0005g0051	3	180	0.0167	-1196	c.637 others(19): Show c.637+11421_637+12616del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560962	ACCCTGAG others(1189): Show ACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGA GGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAG GAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTT GGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTC TTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCAT TCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGC GTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCT CTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACAC GAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGAC ACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTG AGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	180	0.0056	-1196	c.637 others(19): Show c.637+11771_637+12966del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
ZC3H3_chr8_143432659_143546447	143486776	CACACAGA others(1189): Show CACACAGAACAGCACCCGCTACACGACCCCATCACCACGAAGCTCAGACA CAGAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTCAGACACAGA ACAGCACCCGCTACACGGCCCCACCACCACGAAGCTCAGACACAGAACAG CACCCGCTACACGGCCCCACCACCACGAAGCTCAGACACAGAACAGCACC CGCTACACGGCCCCATCACCACGAAGCTCACACACAGAACAGCACCCGCT ACACGACCCCACCACCACGAAGCTCAGACACAGAACAGCACCCGCTACAC GGCCCCACCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCC CCACCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCAC CACCACGAAGCTCACACACAGAACAGCACCCGCTACACGGCCCCACCACC ACGAAGCTCACACACAGAACAGCACCCGCTACACGGCCCCACCACCACGA AGCTCAGACACACAACAGCACCCGCTACACGGCCCCATCACCACGAAGCT CACACACAGAACAGCACCCGCTACACGGCCCCATCACCACGAAGCTCACA CACAGAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTCACACACA GAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTCAGACACAGAAC AGCACCCGCTACACGGCCCCATCACCACGAAGCTCACACACAGAACAGCA CCCGCTACACGGCCCCATCACCACGAAGCTCACACACAGAACAGCACCCG CTACACGGCCCCACCACCACGAAGCTCAGACACAGAACAGCACCCGCTAC ACGACCCCACCACCACGAAGCTCACACACAGAACAGCACCCGCTACACGA CCCCATCACCACGAAGCTCACACACAGAACAGCACCCGCTACACTGCCCC ATCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCATCA CCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCATCACCAC GAAGCTCAGACACAGAACAGCACCCGCTCCACGGCCCCATCACCACGAAG CTCACACACAGAACAGCACCCGCTCCACGACCCCATCACCACGAAGCTCA CACACAGAACAGCACCCGCTACACAGCCCCATCACCACGAAGCTCAG	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	352	0.0028	-1196	c.171 others(21): Show c.1716-12387_1716-11192del		ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11						chr8	TogoVar
ITPA_chr20_3204498_3228860	3215887	TGTTGGCC others(1188): Show TGTTGGCCAGGCCAGTCTCGAACACCTGACCTCAAGTGATCCGCCTACCT TGGCCTCCCAGAGTGCTGGGATTACAGATGTGAGTCACAACACCCAGCCT ATTTGTTTACTTATTTATATTTTTGAGATGGAGTCTCACTGTCGCCCAGG CTGGGGTGCAGTGCGTCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGG TTCAAGCGATCCTCCTGCCTCAGCCTCCCAAGCAACTGGGATTACAGGCA TGCGCCAGCACGCTGGCTAAGTTTTTTTTTTTTTTTTTTTTGAGACAAAG TCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACT CCAACCTCCACTTCCCGGATTCAAGCGATTCTCCTGCCTCAGCCTCCTGA GTAGCTGGGACTACAGGCACGTGCCACCATGCCCAGCTAATTTTTGTATT TTTAGTAGCGTTGGGATTTCACCATGTAGGCCAGGATGGTCTCAATCTTC TGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG TGTGAGTTACCATGCCTGGCCTTTTTTTTTTTTTTGTGACAAGTTTCACT CTTGTTGCCCAGGCTGGAGCGCAATGGCACGATCTCGGCTCACTACAACC TCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCT GGGATTACAGGCACCTGCCACCATGACCAGCTAATTTTTTGTATTTTTTG TAGAGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCA GGCGATCCACCCATCGCAGCCTCCCAAAGTGCTGGGTTTACAGGCGTGAT CCACTGAGCCCGGCTTAATTTTTGTATTTTTAGTAGACACGGAGTTTCGC CATGTTGGCCAGGCTAGTTTCAAACACCTGACCTCAGGTGGTCCCACCTC GGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACCACTCCCAGCCTA TTTTATTTTTTTGAGACAGAACCTCACTCCATCGCCCAGGCTAGAGTGCA GTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCA CGCCTAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAC	T T	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18999.hp2 NA19002.hp1 NA18941.hp1 NA18999.hp2 NA19002.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0270 a0001c0003t0001g0271 a0001c0003t0001g0272 a0001c0003t0001g0270 a0001c0003t0001g0271 a0001c0003t0001g0272	3	414	0.0073	-1195	c.295 others(16): Show c.295+584_296-1427del		ITPA	ENSG00000125877.13	transcript	ENST00000380113.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr20	TogoVar
PCBP2_chr12_53447102_53486162	53470127	ATAATCCC others(1188): Show ATAATCCCAGCACTTGTGGGAGGCTGAGGCAAGTGGGTCACGAGGTCAGG AGACCAGCCTGACCATAGTGGTGAAACCCTGTCTCTACTAAAAATACAAA AATTAGCCAGGTGTGCTGGCCCGCACCTGTAATCCCATTACTCAGAAGGC TGAGGCAGGAGAATCCCCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCA AGATCGTGCCACTGCACTCCAGCCTGGGCAACAGACCAAGACTCCGTCTC TCAAAAAAAAAAAAAAAAAAAAAAAAGTGTAGTGGCTTTTTTTTTTGACA AAGGGTCTCCCTCTGTTGCCCAGGCTGGAGCAGAGAGGCATGATCGTGGC TCACTGCAGCCTTGAACTTCCAGGCTTAAGAGATCCTCCCATCTCAGCCT CCTGAGTAGCTGGGACCACAGGTGCATGCCACTATCCCTGGCTAACTTTT TTTGTATTTTTTTTGTAAAGACAAGAGTTTCGCCATGAAACTCCTGAACG CAAGTGATTGGCCTGCCTCAGCCTACAGGCATGAGCCACGGTCCCCCACC ATAGTGTAGTGGTTCATGAACATCAGATCTGTGCTGTCCAGGGTCATATT TTTTACAGTATTAGTGCAAATGTTAACCAGTTTTTTTTTTTTTTTTTCCA CCTTTTCCCAAGGCAAAAACACCTTAGGAATTGGCCAGAATTCTTGTCGG TATAGGAGGGTGGTAATCATGGCAGGATGACTTTAAGCATATTTGCTGCC AGAAACAGAATGTATTTCTACCTTTATCTATTTCTAGCTGTCTAAATTTA TTTTTGTTTTGGCTCTGCTTTGTCTTTGGAAGTAATATTCTGAGGACAGA AATAATGAAGAGCTAATACTTGGACCTAAGAGTATTATGTCTCTTGGACC TAAAAGACAGTTCTGAGTTGGCTCAGAACTGGCTGTCACTCACCATGGGT GGTCAGACTGAAAAATGGGTCAAGAGTTGAGTTTTTTGATCAAAAGTGTA TGAGTAAAGGGTGTAGGATGAAATTGGGCATGGCGGTATACACCTGTAAT CCCAGGTTACAGGGAGCACAGAGATACAGAGGCTGAGATTCGAAAATGGC TTAAACCAAGGAGTTTGAGACTAGCCTGAGCAACATAGCGAGACCCTCGG TTTTTTTTTTTTTTTTTAAAGGGCCAGGTTCGGTGGCTTATACCTG	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	348	0.0029	-1195	c.882 others(16): Show c.882+1310_883-302del		PCBP2	ENSG00000197111.16	transcript	ENST00000546463.6	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
PCGF3_chr4_700832_775089	745155	GCCCGGGG others(1188): Show GCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGT GTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGC TGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0267 a0001c0001t0007g0267	1	366	0.0027	-1195	c.462 others(16): Show c.462+475_462+1669del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
ZNF564_chr19_12520373_12556482	12539458	GACCATCC others(1188): Show GACCATCCTGGCTAACATGGTGAAACCCCATCTCTAATAAAAATACAAAA AAAAAAAAAAAAGAGTAGGGCAAGGTGGCACGTACCTGTAGTCCCAGTTA CTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTAG CAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAC AATTCCTCTCAAAAAGACAAAAAAGAAAAAGAAAAAGGCCAGGCGCAGTG GCTCACGCCTGTAATCCAAGCACTTTGGGAGGCTGAGGTGGGCGGATCAC AAGGTCAGGAGATAAAGACCATCCTGGCTAACTCGGTGAAACCCCATCTC TACTAAAACTACAAAAAAGAAAAATTAGCCAGGTGTGGTGGTGGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTGGCGTGAATCTGG GAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGG GTAACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAGAAAAAAGAAACC TGACATTCCATAGTACACACAGTATAATGCCACTTGCGTAAGATTCATTC AAAAATGAAATATGTAACTGACTGGCTTAAAATAAAATATATTGACATAG GGTTGAGTACACAGGTTAAGAAAAGCAAGGAAATTATCTTATAATCTATA ACACTGGCCCCATCTGGAAAGAGAATGGATGATTTGGCTTCTAGGAATCA TTTCAAGTGGGGCATGTGGTGAGAAGTCTTCAAAGTCGTGGCCTGGCTGT CATGAGACTGACATTCCCTTTACAATGTTTCAGTTGACTGTGCAACTGTT TTATGTAGTTTCCTCATATGCAATATGTTTAGTAAGTTTCCACAATGAAA ACTCAATACACAAATAAGTCTCAGTGTACTCCGAATTTTGAGCATCAAGC CATTGAAGTCAACATTTAAAAGAGAGCATAGGGCCAGTGTGGTGGCTCAC ATCTGTGATCCCAACACTTTGGGAGGCTGAGGCGGACAGATCAGTTGAGG TCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACTCCATCTCTATT AAAAATACAAAAACCGGCTGGGTGTGGTAGCTCATGCCTGTAATCCCAGC ACTTTGGGAGGCCAAGGCGGGCAGATCACAAAGTCAGGAGATCGCC	G G	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	412	0.0024	-1195	c.3+1 others(15): Show c.3+10677_4-10763del		ZNF564	ENSG00000249709.8	transcript	ENST00000339282.12	protein_coding	1/3						chr19	TogoVar
FRMPD4_chrX_12133473_12729523	12621978	GAAAGAAA others(1187): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAAGAA GGAAAGAAGAAGAAAAGAGGAGAAGAGAGGAGAGGAAAGGAGAGGAGAGG AGAGGAGAGGTGAACTATAAAAAGAACCAAACAGAAATCCTGGAGCTAAA GAATACAATGACAAAACTAAACATTTTAATAGCTTCAACAGCAGACTCAA TTATGCAGAAGAATCAGCAAATGTGAAGACAGGCTATTTGAAATTACCCA GTTAGAGGAACAGAAAGTAAAAAGAATAAAAAAGAGTAAAGGAAGCATAC AGGTCCTATGAGATACCATCAATTGAATGAATATATGCATTATGGGAATA TTAGAAGGAGAAAAGGAAAAAAGGGGAAAAAGCTTATTTAAAGAAATAAT GGCTGAAACGTCCTAAATCTTGGAAGGGATATGGACATCCAGATTTATAC AAATCAAAGGGTCTCAAGCAGAATCAATCCAAAGACTACTCTAAGACACA TTATAACCAAATTTTTAAAAGCCAAACACAGACATAGAATATTGCCCCTA AGAGATATCATTTGAGATATATAAATTACATGAAAAATAATACAAAATAA TCACCTTAATGAAGCTCAGTGGGATACAAGAGAACACAGACCACCAAGAA AAACAAAAAGCAATACATAAACAAAATAAAAAGTTTAATAAAGAAATACA GGTCAGGCGTGGTGATTCACATTTGTAATTCCAGCACTTTGGGAGGCCAA GGCAGGCAGATGGCTTTGAGCCCAAAAGTTCAAGACTAGCCTGGGCAACA TGGCAAAACCCCATCTCTACAAAAATTAGCCAGATGTGGTGGCCCGAATC TGTAGTCCCAGCAACTTGGGAGGCTGAGGTGGGAGGATGACTTGAGCCCA GGAGGCAGAGGTTTCAGTGAGCCAAGATCACACCACTGCACTGTAGCCTG GGCAACATAGCCAGACCCTGTTTCAAAAAAAGAAAAGAAAAGAAAGGAAA AAGGAAAGGAAGTAATAAGGAAAGGAAAAAGGAAAGGAAGGGAAGGGAAG TGAAGGGAAGGGAAGTGAAGGGAAGGGAAAGGAAGGGAGGAAGAAAGAAA GAAAGAGAGAGAGAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0017 a0001c0007t0001g0017	1	174	0.0058	-1194	c.422 others(17): Show c.422+7099_422+8292del		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
PCGF3_chr4_700832_775089	744984	CCCGGGGG others(1187): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0339 a0001c0001t0008g0339	1	366	0.0027	-1194	c.462 others(16): Show c.462+299_462+1492del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745127	GCCGTGGA others(1187): Show GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCA GTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCG CTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG GGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0313 a0001c0001t0007g0313	1	366	0.0027	-1194	c.462 others(16): Show c.462+471_462+1664del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
FRMPD4_chrX_12133473_12729523	12621968	GAGAAAGA others(1185): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGG AAAGAAAGAAGGAAAGAAGAAGAAAAGAGGAGAAGAGAGGAGAGGAAAGG AGAGGAGAGGAGAGGAGAGGTGAACTATAAAAAGAACCAAACAGAAATCC TGGAGCTAAAGAATACAATGACAAAACTAAACATTTTAATAGCTTCAACA GCAGACTCAATTATGCAGAAGAATCAGCAAATGTGAAGACAGGCTATTTG AAATTACCCAGTTAGAGGAACAGAAAGTAAAAAGAATAAAAAAGAGTAAA GGAAGCATACAGGTCCTATGAGATACCATCAATTGAATGAATATATGCAT TATGGGAATATTAGAAGGAGAAAAGGAAAAAAGGGGAAAAAGCTTATTTA AAGAAATAATGGCTGAAACGTCCTAAATCTTGGAAGGGATATGGACATCC AGATTTATACAAATCAAAGGGTCTCAAGCAGAATCAATCCAAAGACTACT CTAAGACACATTATAACCAAATTTTTAAAAGCCAAACACAGACATAGAAT ATTGCCCCTAAGAGATATCATTTGAGATATATAAATTACATGAAAAATAA TACAAAATAATCACCTTAATGAAGCTCAGTGGGATACAAGAGAACACAGA CCACCAAGAAAAACAAAAAGCAATACATAAACAAAATAAAAAGTTTAATA AAGAAATACAGGTCAGGCGTGGTGATTCACATTTGTAATTCCAGCACTTT GGGAGGCCAAGGCAGGCAGATGGCTTTGAGCCCAAAAGTTCAAGACTAGC CTGGGCAACATGGCAAAACCCCATCTCTACAAAAATTAGCCAGATGTGGT GGCCCGAATCTGTAGTCCCAGCAACTTGGGAGGCTGAGGTGGGAGGATGA CTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCCAAGATCACACCACTGCA CTGTAGCCTGGGCAACATAGCCAGACCCTGTTTCAAAAAAAGAAAAGAAA AGAAAGGAAAAAGGAAAGGAAGTAATAAGGAAAGGAAAAAGGAAAGGAAG GGAAGGGAAGTGAAGGGAAGGGAAGTGAAGGGAAGGGAAAGGAAGGGAGG AAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01257.hp1 HG01257.hp2 others(7): Show HG00673.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG02074.hp1 HG02257.hp2 NA18945.hp1 NA18965.hp1 NA18995.hp1 NA19240.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0006c0018	a0001c0001t0002 a0001c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0002 a0001c0002t0001 a0002c0003t0001 a0002c0003t0003 a0006c0018t0001	a0001c0001t0002g0071 a0001c0001t0002g0145 a0001c0002t0001g0081 others(7): Show a0001c0001t0002g0071 a0001c0001t0002g0145 a0001c0002t0001g0081 a0001c0002t0001g0105 a0001c0002t0001g0124 a0001c0002t0001g0137 a0001c0002t0001g0138 a0002c0003t0001g0055 a0002c0003t0003g0106 a0006c0018t0001g0126	10	174	0.0575	-1192	c.422 others(17): Show c.422+7134_422+8325del		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12622015	AAAGGAAG others(1185): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA AGGAAAGAAAGAAGGAAAGAAGAAGAAAAGAGGAGAAGAGAGGAGAGGAA AGGAGAGGAGAGGAGAGGAGAGGTGAACTATAAAAAGAACCAAACAGAAA TCCTGGAGCTAAAGAATACAATGACAAAACTAAACATTTTAATAGCTTCA ACAGCAGACTCAATTATGCAGAAGAATCAGCAAATGTGAAGACAGGCTAT TTGAAATTACCCAGTTAGAGGAACAGAAAGTAAAAAGAATAAAAAAGAGT AAAGGAAGCATACAGGTCCTATGAGATACCATCAATTGAATGAATATATG CATTATGGGAATATTAGAAGGAGAAAAGGAAAAAAGGGGAAAAAGCTTAT TTAAAGAAATAATGGCTGAAACGTCCTAAATCTTGGAAGGGATATGGACA TCCAGATTTATACAAATCAAAGGGTCTCAAGCAGAATCAATCCAAAGACT ACTCTAAGACACATTATAACCAAATTTTTAAAAGCCAAACACAGACATAG AATATTGCCCCTAAGAGATATCATTTGAGATATATAAATTACATGAAAAA TAATACAAAATAATCACCTTAATGAAGCTCAGTGGGATACAAGAGAACAC AGACCACCAAGAAAAACAAAAAGCAATACATAAACAAAATAAAAAGTTTA ATAAAGAAATACAGGTCAGGCGTGGTGATTCACATTTGTAATTCCAGCAC TTTGGGAGGCCAAGGCAGGCAGATGGCTTTGAGCCCAAAAGTTCAAGACT AGCCTGGGCAACATGGCAAAACCCCATCTCTACAAAAATTAGCCAGATGT GGTGGCCCGAATCTGTAGTCCCAGCAACTTGGGAGGCTGAGGTGGGAGGA TGACTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCCAAGATCACACCACT GCACTGTAGCCTGGGCAACATAGCCAGACCCTGTTTCAAAAAAAGAAAAG AAAAGAAAGGAAAAAGGAAAGGAAGTAATAAGGAAAGGAAAAAGGAAAGG AAGGGAAGGGAAGTGAAGGGAAGGGAAGTGAAGGGAAGGGAAAGGAAGGG AGGAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03130.hp1 HG03471.hp1 others(1): Show HG02451.hp2 HG03130.hp1 HG03471.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 others(1): Show a0001c0001 a0002c0003 a0002c0004 a0002c0005	a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 a0002c0005t0001	a0001c0001t0001g0035 a0002c0003t0001g0058 a0002c0004t0001g0021 others(1): Show a0001c0001t0001g0035 a0002c0003t0001g0058 a0002c0004t0001g0021 a0002c0005t0001g0051	4	174	0.0230	-1192	c.422 others(17): Show c.422+7173_422+8364del		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
TRAPPC6A_chr19_45157933_45183237	45171898	TCCTGGTC others(1185): Show TCCTGGTCTCAGACAATGGGTGACAGCGCCTTAGCTCTTTACTACATGCA CTCAGGGGAATCCTCTCTTTGCCCAAAGGCTTCCCTTGTCTTCAAAGCCT CTGAGGTAGAAAAGCCACGGCTGCTTCCTCCAAGGGCTTCTCCTCCTTAG AGAACAAAGGCCTTCCTGGCCCCTCTGGCCGGTCCTCCAGTTCACAACCT GTGACAGCCCAGGAGAATGGCCACAAATAACCACCGTACCAGGCAGGATA GGAGGTCACAAAAGCCCTACACACTGGCTGTGGCTCCTGGGCACCTGTGC TGTGGGGACAGAGATGAAGGAGCCACCATCCCTGTCCTCAAGGAGCTCTG AAGCTGGTGGGAAAGGCGGCCTGTGCTACCCAGAAGCCCTGGGGCCAGAA GCCTGAGTTCTAATTTTGCCTTTAAGAGAACATTCTGCCCTGAACTGGGA GGGAGGCGGGTGGGGGCCATGTGCTCCACCCCTTCCTGTCTCTTGTGTCT GCCCTACCCCTCGATTGTTCTCTAGGCACCTGCTAGCTCCTGGGCAGAGG CTGACCCTGTTCAACGCCCACCTGCTGAGCCACTCTGTGCCAGGCCCAGG GGTGTGGTGGGGAACCCAGGGAAGGAGCAGCCCTGGTTAAGAAAAGCACA CAGACAGAAGTGCTGGCACACAGATGGGTGAGTGAGGGGTGGGTGCGAGA AGCCTGCAGGACTTCCCTGCTGTTGCCCTCAACTCTCCTCCCTGGTCCAG CAAGGCATCCTGAGCAAGTCCAGATCCTGCCTCTGCCCACTCAGAACTCC CCATCCTGTCCCCTGGCCCAGCCCGGAAGGTTGAGCCCACCACAGCCTCT GCCTTAAGCTCCTGCAACAGCGGGGCCCTTCCCAGGCCAATCTCCATCCA GTCCATTCCTGTGGCCAGGGAGACATTTCTAGAATGTAAATCTGAGCCAG GCGCACCTCAGTTTAAACCCGGCTATGGCTCCCACTGCCTTCGGGATGGA GCCCCAGTTCCCAGGAGGGCCTCGCTGGAGCTCCCAGCCACAGATGCTCA GGACGGTGTTCCGGGCAGGGACCTATCTGACAGCCGCTCCGCCCGCCCCA CACCCTCCTCAGATAAGGGGCTGCCCAAGTGCACTCTCGGGGTGTGGTGG ATGGAGGCCTGGCGCAGCAGGGCTATTCTCGGGGCGCCTCGGG	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03195.hp1 NA19043.hp1 others(1): Show HG01433.hp1 HG03195.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0005t0005	a0001c0001t0003g0059 a0001c0001t0004g0198 a0001c0001t0005g0060 others(1): Show a0001c0001t0003g0059 a0001c0001t0004g0198 a0001c0001t0005g0060 a0001c0005t0005g0058	4	434	0.0092	-1192	c.84+ others(15): Show c.84+5045_84+6236del		TRAPPC6A	ENSG00000007255.10	transcript	ENST00000585934.1	protein_coding	1/5						chr19	TogoVar
MTA3_chr2_42563632_42761946	42605104	CTCCCAGA others(1184): Show CTCCCAGATGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCCTCACCTCCCGGACGGGGCGGC TGGCGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGACTGG CCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCTGGATGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGAAGGGGCGGCCGGGCAGAGGCGCCC CTCAGCTCCCAGACGGGGCGGCTGGCCGGGTGGAGGGCTGACCCCCCCAC CTCCCTCCTGGACGGGGCGGTTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCCGACGGGGCGGCT GGCCGGGCGGAAGGGCTGACCCCCCCACCTCCCTTCCCGGACGGGGGCGG CTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGTGGGGGGGCTGACCCCCCCTCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACTCTCCTCA CTTCCCAGATGGGGTGGCTGCCGGGCGGAGACGCTCCTCACT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG04115.hp1 HG00642.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0134 a0001c0001t0001g0138	2	312	0.0064	-1191	c.191 others(17): Show c.191-4345_191-3155del		MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
RCC1_chr1_28501043_28543989	28507478	AAAGCTGG others(1184): Show AAAGCTGGGCCTCGTGTCTGCGCCTGCATATTCCTACAGCTTCCCAGAGT CCTGTCGACAATTACTGGGGAGACAAACCATGCAGGAAACAGCCTTCTAG AGCACTGAATCTGGATTGAAGTCTTTTTTTTTTTTTTTTTTTTTGGAGAT GGAGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCACTCCATTGCCT CTGCCTCCCGGGTTCAAGTGATTATGCTAAGTGATTCTCCTGCCTTGGCC TCCTGAGTAGCTGGGATTACAGGCCCCCGCCACCACGCCAGGCTAATTTT TGTATTTTTAGTAAAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCA AACTCCTGACCTTGTGATCCGCCAGCCTCTGGCCTCCCAAAATGTTGGGA TTACAGGCGTGAGCCACCACACCTGGCTGGATTGAAGTCTTAATACATGT TTAAGAAAAATTGGCTAAAAAGTAGCCAGGCATGATGATAGGTAGCTGGA GGAAGGAGAATCGCTGGAGCCCAGGAGTGACCTATACTCAAACCTATACT CCAGTGCCACTGTACTCCAACCCCAGGCGATAGCATGAGGCCCCTCGTTG AAAAAGTTTAGGGTTTTGCTGTACTAATAGATTAATATCTTGTTTTGCAG GATTTGTTAAGGATTCCAAGTAACTCTTATTTGGTGAGTAAATCTGCTAA TTGTTTTTTGCTTATCAGCTCTTTGTCAATGATTTCTGTAATGGAAATAG GATTGAAGAGACTTTTATTCTAGTTGGTCAGGATTTACCTCTGAGGCATT TAATCATTCTCAGAGCAATAGCCAAATATCGACTTTGCTGCATTTTTGTA GGCATGTTGACATAACTTCAACATATGCTCTGTTCTGTAAAAATTGCTTT TTTTAGTCAGCTCATTAAAAGTGCAAAGTAGTAAAAGCTGCCCTAGTGAA CTGTAGGAAGCCTAATTGGCTTTATCTACATGTGTAGCCTGAGCTGAGAA AGATACTAGCCCTTGAAAATACTGTGGGTGATTAGCAATATTGGATTTGT CGGTTACTCCAATTCCTCACTAATGAGCATTCCAACGTGGATACCCTGGG AGGTCACTCTCCCCAGGCTCTGTCCAAGTGGCATAGGGGAGCTTAGGGCT CTGCCCCATGATGTACAGTCCCTTTCCACAACGTTGAAGATG	A A	splice_acceptor_variant others(5): Show splice_acceptor_variant splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG01167.hp2 HG01978.hp2 HG03239.hp1 HG01167.hp2 HG01978.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0234 a0001c0001t0006g0235 a0001c0001t0006g0236 a0001c0001t0006g0234 a0001c0001t0006g0235 a0001c0001t0006g0236	3	294	0.0102	-1191	c.-26 others(17): Show c.-261-595_-228-107del		RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
TUBGCP2_chr10_133273635_133313872	133291288	TGTGTCCC others(1184): Show TGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCC GTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTC CCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCC CCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGG AGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATG TCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCT ACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTC CGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGT ACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTC CCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGA GAGGGCAGCACGCGCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCAT GTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGG CAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCC TCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGA GAGGGCAGCACGCACCCTCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCG TGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTG TCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCC GGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCC CGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTG TACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGT CCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAG CATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCGTGTCCCCGT GTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTG TCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp1 others(62): Show HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01258.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG03490.hp2 HG03492.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 NA18944.hp1 NA18945.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18973.hp1 NA18983.hp1 NA18990.hp2 NA19004.hp1 NA19012.hp2 NA19055.hp1 NA19087.hp1 NA19087.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0005 a0001c0006 others(2): Show a0001c0001 a0001c0005 a0001c0006 a0003c0011 a0006c0012	a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 a0001c0006t0003 a0003c0011t0001 a0006c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0173 a0001c0001t0001g0185 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0004g0225 a0001c0005t0001g0004 a0001c0005t0001g0128 a0001c0006t0003g0167 a0003c0011t0001g0016 a0006c0012t0001g0120 a0006c0012t0001g0138	65	284	0.2289	-1191	c.121 others(17): Show c.1214+20_1214+1210del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
C4orf19_chr4_37448925_37598510	37460968	GGTTTTAC others(1183): Show GGTTTTACATTTAAGTCTTTAATCCATCTTGAGTTAATTTTTCTATGTGG TTTAAGGAAGGGGTGCAGTTTCAGTTTTCTGCATATGGCTAGCCAGTTTT CCCAGCACCACATATTAAATAGGGAATTCTTTCCCCATTGCTTGTTTTTG TCAGGTTTATTGAAGATCAGATGGTTGTAGATGTGTGGTCTTATTTCTGA GGTCTCTATATCTGTGTTGGTACCAGTACCATGCTGTGTTGGTTACTGTA GCCTTGTAATATAATTTGAAGTCAGGTAGCGTGATGCCTCCACCTTTGTT CTTTCTGCTGAGGATTGTCTTGGCTGTATGGACTCTTTTTTGGTTCCATA TTAATTTTAAATTAGCTTTTTTTCTAATTTTGTGAATAATGTCAATGGTG GTTTGATGGGAATAGCATTGAATCTATAAATTACTTTGGGCAATATGGCT ATTTTCAAGATATTGATCCTTCCTATCCATGAGGATGGAATGTTTTTCTG TTTGTTTGTGTCCTCTCTTATTTCCTTAAGCAGTGGTTTCTAGTTCTTCT TGAAGAGGTCCTTTACATGAGGGTGGAGGAGCTTTCTAGGCAGGGAGAAC AGTGAAAGCTTGGACGCTGGGCTGGAATCAATGCCACAGGTATGAAAGCA AGTGGAGGGATTGCTGGACTAGAGTAGGGGTGCGTTTTTGGCAGTAAAAG GAAGTTATGTGAGACTGATGGAATCGCTGTGGAGCCTGATGAAGTCTGCT TGTTAGAAAGGTTAATCGGGCAGTACTGAGGCTGGCCTGGCAGCAGTGAC CCTGGTTGTTGCTTAGGCTTTGCTGTCCTTTAGCTGTCCTGTGAAGAGAA CTCAGACCAAGGAAAAGATGGAGGAAATAGAGGAGAAGGATGCAATCTGG GAGGCATTTCAAAGCACCTTCCATGGGACTCGATGCCAGATCTTCTAAGG GAATAAAGAGAGAATGTGAACATGATTCTGGACTGTCAAGTTCTGAACTG TGCTTCCCAACCTTCAGGCTGGGATGTTATCTTTGCAATTCTTTGCTACT GTAAAAGAAGGATACTTTTTGGTGATTGTGGTTTTGTTGTTTGTTTAAAG GCAGCTTCCCCCATTCCTTTTCATTATAGCAGTTTTTCAGCTTTTGCTAA GAGGTAATTCAAACATTTAAATTCCAAATCTGTATGTCCAT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03486.hp1 NA19240.hp2 HG02486.hp2 HG03486.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0001 a0001c0001t0005 a0001c0001t0013	a0001c0001t0001g0109 a0001c0001t0005g0282 a0001c0001t0013g0045 a0001c0001t0001g0109 a0001c0001t0005g0282 a0001c0001t0013g0045	3	354	0.0085	-1190	c.-73 others(17): Show c.-73+6931_-73+8120del		C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM222B_chr17_28750980_28847790	28846600	CGGAGGTT others(1183): Show CGGAGGTTGCAGTGAGATTCAACCATTGCACTCCAGCCTAGGGGAGCCAG ACTCCATCTCAGTAAGAATAAAATTTTCCTCTTAAAAAAGAAAAGAAAAT CCTCTATTAACCCCACAGCCCTCTCCTGCTCAATATTGGTCCTCAATATC CAAGGGTTCAGCATCTAGGAATTCAACCATCCGAAGAACAAAAATATCTG GGGAAAGGCCAAACGTGGTGTCTCATGCCTGTAAACTCAGCACTTGGGGA GGCCAAGGCAGAGGACCATTTGAGGCCAGGAGTTCGTGACCAGCCTGGGC AACGTAGTGAGACTCTGTCTCTGCAAAAGATTTAAAAATTAGCGCTGGGC GTGGTGGCTGACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGTGGGTA GATCACCTAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAAC CCCATCTCTACTAAAAATACCAAATTAGCCGGGCATGGTGGAACATGCCT GTGATCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCCA GAGGCACAGGTTGCAGTGAGCCGAGATAGTGCCATTGCACTCCAGCCTGA ACGACAGAGACTCCGTCTCAAAAGAAAAAAAAAAGAAAAAGAAAAAATCT AAAACTTCCGTGACCCCAAGTTACAAGGTGTAACTTTATCTTCCTTACTA AAATAGTGTAGTGGGCCGTGCGTGGTGGTTCATGCCTATAGTCCCAGCAC TTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGGCCAGT TTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAAATTAGC CGGGCATTGTGGCGGAAGCCTGTAATCCCACCTACTCCGGAGGCTAAGGC AGGACTATTGCTTGAATCTGGGAAGTGGAGGTTGCAGTGAGCCGAGATCG TGCCACTGCACTGCAGCCTGGGCGACAGAGAAGGACTCTATCTCAAACAT AAATAAATAAATTAATTAAATAAAGAAAAACAAGGCCGGGCGCGGTGGCT CACTCCTGTAATCCCAGCGCTTTGGGAGGCCGATGTGGGCAGATCACGAG GTCAGGAGATCGAGACCATTCTGGCTAACATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATGAGCCGGGCGCCATGGCGGGCGCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG03704.hp1 HG00140.hp2 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0213 a0001c0002t0003g0214 a0001c0002t0003g0213 a0001c0002t0003g0214	2	276	0.0073	-1190	c.-51 others(11): Show c.-5149_-3960del		FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding					3811		chr17	TogoVar
FHL1_chrX_136142533_136216354	136166734	GTGGATGG others(1183): Show GTGGATGGAATCGAAAGAAAGGTATATTTGGTGTCAAGTGTTTGTGGCGG CATGTGAAATCATTATCCACGTTTGATAACAGTTTGACTCTTTGCCTGCT ATAATAATAGTAGTAAGTATGTATTTAACATTCAATGCGTACCTTGTGTG GGGGAGGCACTGCTAAATGCTTTGCATGGACGTACCTCCTTACCTCTATG AGGTAGGTGGCCATTATGATGCTCATAGAGGCTGGACAGCTAATATGAGG CGGAGCCTGTATTTGGGCTCAGGCAGTCTGACTCTGGTGCCCCTGCTGTG AAGAGCTGTGCCCTGCTGCATTCCTCCTGTAGCTGCACGAAAGGGTGTGG AATCTTCTAGAAACAGTGAGTTCTATATGAGTGGAGTGTGGTGGTGGGAG AATAGATGGAGTAAAGCCTTTTGTGTAAACATACCATGCTAAGTACTGGG AGATAGAAACGAAATGAGAGATTTTTTTGTTTTGTTTTTTGAGATGGAGT CTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGTGCGATCTCAGATCACCG CAACCTCCACCTTCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAG TACCTGGGACTACAGACACACGCCACCACGCCGGCTAATTTTTGTATTTT TTTGGTAGAGACGGGGTTTCATCATGTTGGCCAGGATGGTCTTGATCTCA TGACCTCGTGATCCACCCACCGCAGCCTCCCAAAGTGCTGGGATTACAGG TGCCAGCCACCACACCCAGCCAAAATAAGACATTTCTTTGCCCCTGCCAC CAAGATATTTAACATCTTACAGGACTAACAAAACCTAACATGAACCAGTC CAGATTCATATGATAGAATATGAAAATGTTTTCTGGAAAGAATAGCCAGA GTCCCAGTCTGGTTACTAGAAGACACTTTCCCTGTCCTTTCCCCACCTGT AGCCCTTCCAAGCTGGAATGTGCAGAGGTGAGGAACAGACAGAGAGATGG CAGGGAAGCTATTGGCAAGGTGGGAATCTTAGGAAGGAAGTGATTCCGGT TCTTGAAAAAGAGAACCGGATTCCGTCAAGTAGAATCGGTATGAATTGTA CCCATCTCTAGGAAACATCAATTCCAGAAGGGTGAATTAGATGAAATATG ATAAGACTAGTGTGTGACAGATTCAGGTTTGACGCTTCAGT	G G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	212	0.0047	-1190	c.-10 others(19): Show c.-100-3167_-100-1978del		FHL1	ENSG00000022267.19	transcript	ENST00000394155.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
LUC7L_chr16_183990_234449	186077	GACACGGG others(1183): Show GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAATACCAACACGGGAGGAACAGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02809.hp2 HG02818.hp2 others(3): Show HG02559.hp1 HG02809.hp2 HG02818.hp2 HG03130.hp2 HG03209.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 others(3): Show a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171	6	350	0.0171	-1190	c.19 others(11): Show c.1931_*3120del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2912		chr16	TogoVar
RAMACL_chr6_166578009_166591678	166585488	TCAAACAA others(1183): Show TCAAACAAGTCTTTTTTTTTTTTTTTTTTTTTCCTTATTTTACAGCTTTA TTACTGATTTCCCTCTAAAAAGAGACTCAAGTGTGGAGCTGACTCATCTA TAGATTAAGGAATCACAAAGTACCATAGTCACTTAACAAATGCAAAAAAA AAAAAAAGCAATTGTTTTACCTTTCAACTGCTGATGTTATGTACAATCTA TCACAAAAAGCATAGCTGTGCATTCATGAGCTGATTATATCAACCTCTAG AATTTTAGAAACGAGCACATCTAAGCATATGGATACTCTCTTACCTTACA AAGTAAAAGCATTTTCTATTTTAAAATTTTTATTTCTGTGTAAAACAAAG AATTCCTAGAGGTCAAATAATATACCAAACTTAAAGCACTATTAAGTCAT GAAACAAAGAAGATTCTGAGGTAGAAGTCAAGCAATATAATCCACAGTTT CAGGTATTCCCAGCAACCATCGCATTTCGCAAGTAAGATCTATTTTTTTT AAAGTCTCAACTTCCAAAAAATCAATAATCCATTCTGTAAAATCAGATGT AAAACTATGACCAACAGAAGACACCCAAACTTTTCTCATGGTAACAGAGT AAATGCTTTTACTAAAAGCTGCCAACATTTCTATCAGTAGTAACCGTAAG GAGGCCGCTGGTTGTAACCATAATGTCCATATTGCTGGGGATAGTAAGGT TCTTGTCTGTGTTGCGGGTAGTTGTTACCCCAGGATCGTCCATGCCACTG ATTGGATCGATTGTCACTTGGCCACCCCCATCTGTTGTCCCTGCCTCTGA ACTGTCTGTTGTCTTGCAACCGATTGCCTCTGTTTCTTTGGTTCCCACCA GCTCTGCTATTCCATTCCTCAACAATTGGAGGAGACTCAGGAGGGCGTTT CAGGTATTCCTGATACTCCTTGTCATTTTCTGTGAATCTACTAGCAAACA TCTCTTCAAAATTTGGAACAGCTTCGGCAGTGTCAGTCATTCTGAAAATC CCAAAGGTTTGAGGCAGCTGTATTGCTTAATGTTTAGGTTGTTTAAATCC GCCAAGGGCTATGTCTATCCAGCTCAGGCCGAACCCCGCCGGCGAGACAC TGAGAAGCCCAGGAGAGGTGGCCTCTGGTCCACTACACCGTGGAACTCCA GACCACTCCAGTTCTCCAATGTAACCGAGCGCCTTCCTCTC	T T	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG01070.hp1 HG01071.hp1 HG01167.hp1 others(40): Show HG01070.hp1 HG01071.hp1 HG01167.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0006 a0000c0000t0009 a0000c0000t0015 others(3): Show a0000c0000t0006 a0000c0000t0009 a0000c0000t0015 a0000c0000t0016 a0000c0000t0047 a0000c0000t0048	a0000c0000t0006g0000 a0000c0000t0009g0000 a0000c0000t0015g0000 others(3): Show a0000c0000t0006g0000 a0000c0000t0009g0000 a0000c0000t0015g0000 a0000c0000t0016g0000 a0000c0000t0047g0000 a0000c0000t0048g0000	43	442	0.0973	-1190	c.-20 others(9): Show c.-201_*632del	p.Met others(3): Show p.Met1fs	RAMACL	ENSG00000235272.3	transcript	ENST00000444122.3	protein_coding	1/1	1190/3670	1/357	1/118			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166585488	TCAAACAA others(1183): Show TCAAACAAGTCTTTTTTTTTTTTTTTTTTTTTCCTTATTTTACAGCTTTA TTACTGATTTCCCTCTAAAAAGAGACTCAAGTGTGGAGCTGACTCATCTA TAGATTAAGGAATCACAAAGTACCATAGTCACTTAACAAATGCAAAAAAA AAAAAAAGCAATTGTTTTACCTTTCAACTGCTGATGTTATGTACAATCTA TCACAAAAAGCATAGCTGTGCATTCATGAGCTGATTATATCAACCTCTAG AATTTTAGAAACGAGCACATCTAAGCATATGGATACTCTCTTACCTTACA AAGTAAAAGCATTTTCTATTTTAAAATTTTTATTTCTGTGTAAAACAAAG AATTCCTAGAGGTCAAATAATATACCAAACTTAAAGCACTATTAAGTCAT GAAACAAAGAAGATTCTGAGGTAGAAGTCAAGCAATATAATCCACAGTTT CAGGTATTCCCAGCAACCATCGCATTTCGCAAGTAAGATCTATTTTTTTT AAAGTCTCAACTTCCAAAAAATCAATAATCCATTCTGTAAAATCAGATGT AAAACTATGACCAACAGAAGACACCCAAACTTTTCTCATGGTAACAGAGT AAATGCTTTTACTAAAAGCTGCCAACATTTCTATCAGTAGTAACCGTAAG GAGGCCGCTGGTTGTAACCATAATGTCCATATTGCTGGGGATAGTAAGGT TCTTGTCTGTGTTGCGGGTAGTTGTTACCCCAGGATCGTCCATGCCACTG ATTGGATCGATTGTCACTTGGCCACCCCCATCTGTTGTCCCTGCCTCTGA ACTGTCTGTTGTCTTGCAACCGATTGCCTCTGTTTCTTTGGTTCCCACCA GCTCTGCTATTCCATTCCTCAACAATTGGAGGAGACTCAGGAGGGCGTTT CAGGTATTCCTGATACTCCTTGTCATTTTCTGTGAATCTACTAGCAAACA TCTCTTCAAAATTTGGAACAGCTTCGGCAGTGTCAGTCATTCTGAAAATC CCAAAGGTTTGAGGCAGCTGTATTGCTTAATGTTTAGGTTGTTTAAATCC GCCAAGGGCTATGTCTATCCAGCTCAGGCCGAACCCCGCCGGCGAGACAC TGAGAAGCCCAGGAGAGGTGGCCTCTGGTCCACTACACCGTGGAACTCCA GACCACTCCAGTTCTCCAATGTAACCGAGCGCCTTCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01884.hp1 HG01884.hp2 others(36): Show HG01167.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(22): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0015 a0001c0016 a0001c0017 a0001c0019 a0001c0022 a0001c0029 a0001c0034 a0001c0035 a0001c0036 a0001c0038 a0001c0042 a0001c0045 a0001c0046 a0001c0051 a0001c0052 a0001c0057 a0001c0058 a0001c0060 a0001c0064	a0001c0001t0036 a0001c0004t0014 a0001c0006t0004 others(31): Show a0001c0001t0036 a0001c0004t0014 a0001c0006t0004 a0001c0006t0005 a0001c0006t0027 a0001c0007t0006 a0001c0009t0019 a0001c0010t0005 a0001c0010t0014 a0001c0015t0004 a0001c0015t0010 a0001c0015t0017 a0001c0015t0023 a0001c0016t0045 a0001c0017t0005 a0001c0017t0041 a0001c0019t0021 a0001c0019t0031 a0001c0022t0004 a0001c0022t0017 a0001c0029t0018 a0001c0034t0025 a0001c0035t0024 a0001c0036t0002 a0001c0038t0018 a0001c0042t0014 a0001c0045t0043 a0001c0046t0004 a0001c0051t0015 a0001c0052t0004 a0001c0057t0016 a0001c0058t0008 a0001c0060t0016 a0001c0064t0005	a0001c0001t0036g0198 a0001c0004t0014g0064 a0001c0004t0014g0244 others(36): Show a0001c0001t0036g0198 a0001c0004t0014g0064 a0001c0004t0014g0244 a0001c0006t0004g0149 a0001c0006t0004g0183 a0001c0006t0005g0129 a0001c0006t0005g0194 a0001c0006t0027g0201 a0001c0007t0006g0240 a0001c0009t0019g0156 a0001c0010t0005g0190 a0001c0010t0014g0223 a0001c0015t0004g0050 a0001c0015t0010g0041 a0001c0015t0017g0020 a0001c0015t0023g0003 a0001c0016t0045g0196 a0001c0017t0005g0224 a0001c0017t0041g0124 a0001c0019t0021g0072 a0001c0019t0021g0238 a0001c0019t0031g0235 a0001c0022t0004g0071 a0001c0022t0004g0237 a0001c0022t0017g0189 a0001c0029t0018g0004 a0001c0034t0025g0005 a0001c0035t0024g0006 a0001c0036t0002g0051 a0001c0038t0018g0002 a0001c0042t0014g0043 a0001c0045t0043g0123 a0001c0046t0004g0154 a0001c0051t0015g0195 a0001c0052t0004g0148 a0001c0057t0016g0230 a0001c0058t0008g0145 a0001c0060t0016g0200 a0001c0064t0005g0188	39	244	0.1598	-1190	c.99+ others(17): Show c.99+40243_99+41432del		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	1/20						chr6	TogoVar
SLC66A2_chr18_79897420_79956653	79920700	CCGAGGGA others(1183): Show CCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGG TCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGT GAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAG GAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAG AGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTC AGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAG ACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCGAG GGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAG CTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGA GACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACGGGAACCG AGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCA AGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGTGAGG AGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAA CCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGG TCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTG AGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAG GAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAG AGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTC AGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGA CAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGTG AGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAGGGT CAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGGAG AGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACC GAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAG	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	352	0.0028	-1190	c.392 others(17): Show c.392-2490_392-1301del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
TUBGCP2_chr10_133273635_133313872	133291285	CCCTGTGT others(1183): Show CCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCG TCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGT GTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTG TCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCG GGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCC ATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGC CCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCC CTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACC TGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGT GTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACG GGAGAGGGCAGCACGCGCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCC CATGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGA GGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGT CCCTCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACG GGAGAGGGCAGCACGCACCCTCCGTGTCCCCCATGTCCCTCTGTGTCCCT CCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCC GTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCGTGT CCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTC CCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTAC CTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCG TGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGG CAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCGTGTCCC CGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCC GTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	284	0.0035	-1190	c.121 others(17): Show c.1214+24_1214+1213del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
ZNF516_chr18_76352682_76500242	76393232	GGGCAGGT others(1183): Show GGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGG AAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAG CCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0135 a0001c0001t0092g0135	1	346	0.0029	-1190	c.181 others(21): Show c.1811-14119_1811-12930del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ACYP2_chr2_53966113_54310300	54018850	TGATTCTC others(1182): Show TGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACC ACCACACCTGGCTAATTTTTGTATTTTTCGAAGAGATGGGGTTTCACTAA GGCCAAGCTGGTCTCAAACTCCTGATCTCAAGTGATCCACCTGCCTTGGC CTCCCAAAGTGCTGAGATTACAGGCGTGTGCCACCATGCTTGGCCTATTT TTTTATTATTATTATTATTATGTTTTTTTTTTTTGGCAACAAGGCCTTGC TCTGTCACCCAAGTTGGAGTGCGGTGGCACAATCATGGCTCACTGCAGCT TCAACCTCCTGGGCTCAAGCAATCCTTCCACCTCAGCCTCCTTAGTAGCT GGGCCTGTAGGTGCATGCCACCACACTTGGCTAATTTTTAAAAATATTTT TTGTGGAGATGTGTGTCTCCCTATGTCACCCAGGCTGGTCTTGAGCTGCT ATCTTCAAGTTATCCTCCTGCCTCAGCTTCCTGAAGTGCTAGGATTACAG GGATGAGCCACTGAGCTTGGCCTTTATTTTAATTTTATTTTTTTTGACAC ACAGTCTCACTCTGTCACTTAGGCTGGAATGCAGTGGTGCAATCATGGTT CATTGCAACCTCGACCTCCTGGGCTCAAGCAATCCTCCAGCCTCGTTTTG CATACTGCCCAGGCTAATCTCAAACTCCTGGGCTCAAGCAATTCACCTAC CTCAGCCTCCCCAAGTGCTGAGATTACAGGCATGAGCCACCATTCCTGGC CCCTGTGCTTTTATTATTATTATTATTATTATTATTTTGAGACGGAGTCT CACTCCGTCACCCAGGCTAGAGTGCAGTGGCGTGATCTCAGCTCACTGCA GCCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGATTACAAGCATGAGCCACCATGCCTGGCTAATTTTTGTATTTAT GGTAGAGATGGGGTTTTACCATGTTGATCAGGTTGGTCTCGAACTCCTGG CCTCAGGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAAGC ATGAGCCACTGCACCTGGCCTTTTCTTTTGAATGATGCTTCTTTTTTGTT TGTTTGTTTTTGAGACGGAATCTCACTCTTTTGCCAATGCTGGAGTACAA TGGTGCAATCTCGGCTCACTGCAACCTCCTGGGTTCAAGG	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0108 a0001c0002t0002g0108	1	272	0.0037	-1189	c.63- others(17): Show c.63-32077_63-30889del		ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
NLRP5_chr19_55994726_56066810	56006900	TGGCTAAT others(1182): Show TGGCTAATTTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCTTGTTAGCC AGGATGGTCTCGATCTCCCGACCTTGTGATCCACCCACCTTGGCCTCCCA AAGTTCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTAAAATAAAAT TTTTTAAAAATTGTATATAAAAATGTCTTATGGCTGGGCACCGTGGCTCA CGCCTGTAATCCCAATACTTTGAGAGTCCTAGGCGGGCGGATCACTTGAG GTCAGGAGTTCAAGACTAGCCTGTCTAACACGGTAAAACCCTGTCTCTAC TAAAAATACAAAAAATTAGCCTGGTGTAGTGGCAGGCACCTGTAATCCCA GCTACTAGGTAGGCTGAGGCAGGAGAATCGCTTGAAGCTGGGAGGCAGAG GTTGCAGTGAGCTGAGATTGTGCCGTTGCACTCCAGCCTGGGCGACAGAT TGAGACTGTCTTTTTTTTTTTTATAGAAAGTCTTACAGTTCCTATTCCAG ATGAGAGGGAAGTTTAGAATCACTTCCTAGAAGGAGTAAGCTTTAGGCTG AGATAAACAAAGAAGAGGAGTTGGCGGAGTTGCCTGAGCATGGTAGAGAA AAACATTCTGAGCATAAAGTCAGGGCATCCCAAAGCCTTTAACAGAGGGT TTGGCTGGGCCACGGAGAATGAGCAGGAGGTGAAGACGGAGGGACTAGAA GTCAGATAACATGGCATCTTGAAAATACTTGTAATAGCAAGTAGAAGCAA TTACATAGTTTGAAAGGGGTGGTAATAGAAATCATCAAACTTTCCTTTCA GCACTGTTGCAAAAGTGTTGAGTGACCCAGAGGGGATTGTGGAATAAACA CAGGGAGACGAGTTTGAGGTCTTTCTACTGTCCATGAGATAAATAAAGGT GGCTTGGAATAGGATGATGGCACAGAAAGAAGTAGAAATGGAAGATGCTT CCAAAGTGTACAAGACAGTTTGTGTGTGTGTGTGTGTGTGCGCGTGCGCG CGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAACAGAGTCTT GCTCTGTCGCCCAGGCTGGGCTGTCGCCCAGTGCAGTGGCGCGATCTCGG CTCACTGCAAACTCCGCCTCCCGGGTTCGTGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG02886.hp2 others(2): Show HG02109.hp2 HG02451.hp1 HG02886.hp2 HG03540.hp2 HG06807.hp1	a0003 a0039 a0003 a0039	a0003c0008 a0039c0078 a0003c0008 a0039c0078	a0003c0008t0001 a0039c0078t0001 a0003c0008t0001 a0039c0078t0001	a0003c0008t0001g0309 a0003c0008t0001g0310 a0003c0008t0001g0311 others(2): Show a0003c0008t0001g0309 a0003c0008t0001g0310 a0003c0008t0001g0311 a0003c0008t0001g0312 a0039c0078t0001g0313	5	396	0.0126	-1189	c.443 others(16): Show c.443-1859_443-671del		NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
BCAT2_chr19_48790064_48816029	48797683	GGTGATCT others(1181): Show GGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCAGCCCTCACCCATTTCATACTGACCAAATCCTCAGCTGT CATTCAAAACCATTTCTTTTTTTCTTTTTTTCTTTTTTTTTTTTTTGAGA CAGAGTCTTGCTCTGTCGCCCAGGCTGAGGCTAGAGTGCAGTGGTGCGAT CTCAGCTCACTGCAACCTCCGCCTCTCGGGTCCAAGCGATTCTCGTGCCT CAGCCTCCTGAGTAACTGGAGTAACTGGGGCATGCAGCACCATGTCCGGC TAATTTATATTCACATTTATATTTATATGCCCGCCTCAGCCCCCCAAAGT GCTGGGATTACAAGAGTGAGCCACAGCGCCCGGCCTTACTTTTTATATTT TTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCT GACCTCAAGTGATCCGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAA GCGTGAGCTACCGCGCCTGGCTCCAAAACCGTTTCTGTTGTCACCTCCTC GAGAGGTGTTTCCAGACCTCCAGGCTGGGTGCTGGACCTTCCCTGGACTC CCCCAGTGAACTGGGCTACCTGGATGACTTTCTGAGTCTCTCTCCCAGAG ATAGCCTCTCCCCTCAGCTGCTAACAAGCCTCCCATGGCTCCCCAGTGCC CCAGGACAAGACCCTAGCCTCCTTCCGGCATTCCAGGCCTGCCTGGGTCT AATGAATACTTGCTAAGCATTTTTCAAAACCCAAACTTATTTTTGTAACC TGAACATCTTCTGTGATCCTATTCCTTCTGTCCCTGTACACATGGTTCCC AGGACTGGAAACAGTTTGCTGACTTTTGTACCCAGGAAACCCCCTCCTCC CTCCTCGTCAGACCTAGTTGAAGGGTCGCCTCCTCTGCGAAACCTTTCTT TTTTTTTTTTGAGATGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCGATCTCGGCTCACTGCAAGCTCTGTCTCCTGGGTTCTCGCCATTG TCCTGCCTCAGCCTCCTGAGTAGCTGCGACTACAGGCGCCCGCCACCAAG CCCGGCTAATTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTT TCACTGTGTTAATCAGGATGGTCTCGATCTCCTGACCTC	G G	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	408	0.0025	-1188	c.695 others(15): Show c.695+804_696-351del		BCAT2	ENSG00000105552.15	transcript	ENST00000316273.11	protein_coding	6/10						chr19	TogoVar
DPP6_chr7_154047398_154899285	154662505	GTATCGGC others(1181): Show GTATCGGCCGTAGTGTTCATATAGTCATGGTGAATCACCATGGCGTATCA GCCGTAGTGTTCATATAGTCATGGTGAATCACCATGGCGTATCGGCCGTA GTGTTCATATAGTCATGGTGAATCACCATGGCGTATCGGCCATAGTGTTC ATATAGTCATGGTGAATCACCATGGCGTATTGGGCGTAGTGTTCATATAG TCATGGTGAATCACCATGGCATATTGGCCGTAGTGTTCATATAGTCATGG TGAATCACCATGGCGTATTGGCCATAGTGTTCATGTAGTCAAGATGAATC ACCATGGTGTATTGGCGCTAGTATTCATATAATCATGATGAATCACCATA GCGTATTGGCCATAGTGTTCATATAGTCATGGTGAATCACCATGGCATAT TCGCCGTAGTGTTCATATAGTCATGGTGAATCACCATGGCGTATCGGCCG TAGTGTTCATATAGTCATGGTGAATCACCATGGTGTGTTGGCCCTAGTGT TCACGCAGTCATGGTGAATCACCATGGCGTGTTGGCCCTAGTGTTCACGC AGTCATGGTGAATCACCATGGTATATTGGCCATAGCGTTCATATAGTCAT GGTGAATCACCATGGCATATTGGCCGTAGTGTTCACGCAGTCATGGTGAA TCACCATGGCGTATTGGCGGTAGTGTTCATATAGTCATGGTGAATCAGCA TGGTGTATTGGCGCTTGTGTTCATATAGTCATGGTGAATCACCATGGCGT ATTGGCCGTAGTGTTCATATAGTCATGGTGAATCACCATGGCGTATTGGC CATAGTGTTCATAGAGTCATGGTGAATCACCATGGCGTATTGGCCATAGT GTTCATGTAGTCAAGATGAATCACCATGGCGTATTGGCGCTAGTATTCAT ATAGTCATGATGAATCACCATAGCGTATTGGCCATAGTGTTCATATAGTC ATGGTGAATCACCATGGCATATTCTCCGTAGTGTTCATATAGTCATGGTG AATCACCATGGCGTATCGGCCGTAGTGTTCATATAGTCATGGTGAATCAC CATGGTGTGTTGGCCCTAGTGTTCACGCAGTCATGGTGAATCACCATGGC GTGTTGGCCCTAGTGTTCACGCAGTCATGGTGAATCACCATGGCATATTG GCCATAGCGTTCATATAGTCATGGTGAATCACCATGGCA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02922.hp2 HG02965.hp2 HG02280.hp1 HG02922.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0010 a0002c0004 a0001c0003 a0001c0010 a0002c0004	a0001c0003t0007 a0001c0010t0010 a0002c0004t0006 a0001c0003t0007 a0001c0010t0010 a0002c0004t0006	a0001c0003t0007g0024 a0001c0010t0010g0009 a0002c0004t0006g0028 a0001c0003t0007g0024 a0001c0010t0010g0009 a0002c0004t0006g0028	3	38	0.0790	-1188	c.681 others(17): Show c.681-6806_681-5619del		DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
FRMPD4_chrX_12133473_12729523	12621929	AAAGAAAG others(1181): Show AAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAAGAAG GAAAGAAGAAGAAAAGAGGAGAAGAGAGGAGAGGAAAGGAGAGGAGAGGA GAGGAGAGGTGAACTATAAAAAGAACCAAACAGAAATCCTGGAGCTAAAG AATACAATGACAAAACTAAACATTTTAATAGCTTCAACAGCAGACTCAAT TATGCAGAAGAATCAGCAAATGTGAAGACAGGCTATTTGAAATTACCCAG TTAGAGGAACAGAAAGTAAAAAGAATAAAAAAGAGTAAAGGAAGCATACA GGTCCTATGAGATACCATCAATTGAATGAATATATGCATTATGGGAATAT TAGAAGGAGAAAAGGAAAAAAGGGGAAAAAGCTTATTTAAAGAAATAATG GCTGAAACGTCCTAAATCTTGGAAGGGATATGGACATCCAGATTTATACA AATCAAAGGGTCTCAAGCAGAATCAATCCAAAGACTACTCTAAGACACAT TATAACCAAATTTTTAAAAGCCAAACACAGACATAGAATATTGCCCCTAA GAGATATCATTTGAGATATATAAATTACATGAAAAATAATACAAAATAAT CACCTTAATGAAGCTCAGTGGGATACAAGAGAACACAGACCACCAAGAAA AACAAAAAGCAATACATAAACAAAATAAAAAGTTTAATAAAGAAATACAG GTCAGGCGTGGTGATTCACATTTGTAATTCCAGCACTTTGGGAGGCCAAG GCAGGCAGATGGCTTTGAGCCCAAAAGTTCAAGACTAGCCTGGGCAACAT GGCAAAACCCCATCTCTACAAAAATTAGCCAGATGTGGTGGCCCGAATCT GTAGTCCCAGCAACTTGGGAGGCTGAGGTGGGAGGATGACTTGAGCCCAG GAGGCAGAGGTTTCAGTGAGCCAAGATCACACCACTGCACTGTAGCCTGG GCAACATAGCCAGACCCTGTTTCAAAAAAAGAAAAGAAAAGAAAGGAAAA AGGAAAGGAAGTAATAAGGAAAGGAAAAAGGAAAGGAAGGGAAGGGAAGT GAAGGGAAGGGAAGTGAAGGGAAGGGAAAGGAAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp1 HG01071.hp2 others(23): Show HG00609.hp1 HG00741.hp1 HG01071.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01952.hp1 HG02040.hp1 HG02145.hp1 HG02717.hp1 HG02735.hp1 HG02895.hp1 HG02922.hp2 HG03017.hp1 HG03209.hp1 HG03654.hp1 HG04199.hp1 NA18944.hp1 NA18952.hp1 NA18960.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0002c0003 a0002c0011 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0006t0002 a0001c0007t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0012 a0002c0011t0001 a0003c0009t0001	a0001c0001t0001g0038 a0001c0001t0002g0022 a0001c0001t0002g0049 others(23): Show a0001c0001t0001g0038 a0001c0001t0002g0022 a0001c0001t0002g0049 a0001c0001t0002g0054 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0089 a0001c0001t0002g0127 a0001c0001t0002g0153 a0001c0001t0006g0014 a0001c0001t0006g0015 a0001c0001t0006g0174 a0001c0001t0011g0079 a0001c0002t0001g0098 a0001c0002t0001g0120 a0001c0002t0001g0139 a0001c0002t0002g0158 a0001c0002t0014g0119 a0001c0006t0002g0161 a0001c0007t0001g0086 a0002c0003t0001g0171 a0002c0003t0003g0152 a0002c0003t0004g0020 a0002c0003t0012g0117 a0002c0011t0001g0039 a0003c0009t0001g0091	26	174	0.1494	-1188	c.422 others(17): Show c.422+7177_422+8364del		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
GRTP1_chr13_113319163_113369130	113346057	CGGGAGGA others(1181): Show CGGGAGGACCTCTGCGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAG AACAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTC TGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCG GGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACCTCTGTGGCCGAG AGCAGATCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTG TGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAGCGGACCCAGG AGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCA GACCTGGGAAGACATCTGTGGCCGAGAACAGACCCAGGAGGACCTCTGTG GACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAG GACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCAAAGAGCA GACCCAGGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGGACCTCTGTG CCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAG GACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGA CCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGC TGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGA CCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGA CCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGC TGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACC TCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACC CGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTG AGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTC TGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCG GGAGGACCTCTGTGGCAGAGAGCAGACCCAGGAGGACCTCTGTGGCCGAG AGCAGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	288	0.0035	-1188	c.466 others(17): Show c.466-2286_466-1099del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346230	AGACCCGG others(1181): Show AGACCCGGGAGGACCTCTGTGGCCGAGAGCAGATCCGGGAGGACCTCTGT GGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGG ACCTCTGTGGCCGAGAGCGGACCCAGGAGGACCTCTGTGGCTGAGAGCGG ACCTGGGAGGACCTCTGTGGCTGAGCAGACCTGGGAAGACATCTGTGGCC GAGAACAGACCCAGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGAC CTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCAAAGAGCAGAC CCGGGAGGACCTCTGTGGCAAAGAGCAGACCCAGGAGGACCTCTGTGGCC GAGAACAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGAC CTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCT GGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGA GAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCT CTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCC GGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGA CAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCT CTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGG GAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGA GCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGT GGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGA GGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGC AGACCCAGGAGGACCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGT GGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGAGCAGACCCGGGA GGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAG ACCCGGGAGGACCTCTGTGGCCAAGAACAGATCCGGGAGGACCTCTGAAG CCGAGAGCAGACCCGGGAGGACCTCTGTGGCTGACAGTG	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	288	0.0035	-1188	c.466 others(17): Show c.466-2459_466-1272del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346273	CCTCTGTG others(1181): Show CCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACC CGGGAGGACCTCTGTGGCCGAGAGCGGACCCAGGAGGACCTCTGTGGCTG AGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCAGACCTGGGAAGACATC TGTGGCCGAGAACAGACCCAGGAGGACCTCTGTGGACAAGAGCAGACCCG GGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCAAAG AGCAGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCAGGAGGACCTC TGTGGCCGAGAACAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCG GGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAG CGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTG TGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGG AGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAG CAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTG TGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGG AGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCA GACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTG GCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGA CCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGA CCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGC AGAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAGCAGACCCAGGAGGA CCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGAGCAGA CCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAG AGAGCAGACCCGGGAGGACCTCTGTGGCCAAGAACAGATCCGGGAGGACC TCTGAAGCCGAGAGCAGACCCGGGAGGACCTCTGTGGCTGACAGTGGACC CGGGAGGACCTCTGTGGCTGAGAGCAGACCCAGGAGGAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0030 a0001c0001t0005g0030	1	288	0.0035	-1188	c.466 others(17): Show c.466-2502_466-1315del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
LONRF1_chr8_12716906_12760526	12732253	TTTGCCTT others(1181): Show TTTGCCTTATTTAAGAAAAGCAAAACATCTGTTTTGTTCCCAATTTCAGA CACAGTCTCTAGATAAATTTTCTTTCAGATTTTTCTTCCATTGTCACCCA CTATTGAGTAGAGGAGCAGACCTCAACTCTGTCCTTGAGTGACCCAAGGA AGGTGCGTTTCTTGGGACACTATCACTCAGACCCTTATCAAGATATTGCT TTTCCTGTATGATCCATCTACCCCAGCTCTATATAAAATCTTACATTTGC GCTGACCCCTAAATACTCTGAAAAAGTACTATCCTCATGCATTTTTGTGT TATTCTCTATTCCAACTTACAAAAGCCATCTCTCTCACTCCTGCTTATGC AAAACATGTCTATCCTTCAAGGTCTGACTCCAATTTTACCTTTTTCACAA ACTCTTCCTTAATTATTTTTTTCTCTCCCAAGAACCCATATTTTACTGTT TTTACCACATAGTAGGCATTGTAGCGTGTAGTATATGTACACAGATATAT TACATCTCTGTAGTTAAACTAAAAATTGCTTAGGGTAGGGCCAGGGACAT GGTCAGGGTGTATGCACAGAACTTTGTACAAAGAAAATGCCCAATACATA TTTATTTCATAAAATTAGTGAGGAAAACCTCCTGGGAAACTATCACAAGA TGAAGCCATCCTTGAATCTGCAGTCAGTAAAAGCAAGGGTTTTGTCATTA TCCAATGAAGAGTAGATGGGGAAATGCGAGAGGTTGGGAAACTGGTGGTG GTTTTCAAAGTTTAGCATGAATCGCGGCTTGTTAAAATACAGACTACTGA GCCCCACGCCAGAGTCTCTGAGCATCTGGGGTAGGGTCCAAGAATCTATG TTTCTAACAAGTTGTCAGGTGACAGATGCTGCTGGTCAGGGGAGCATGGG GAGAGGTGGCCTTGGGCAGGTAGTATATACACAGATAATAAGTGTTTATC ACAAAATTAATCAAATTAGCTGTCATAAAAGCAATTCCATTATCATTTTC TATTAAGTTAATAAAGATGTTTAAACATCTAGGGAAATACAGCCACTCTT ACATTACTGATAAAAATCTCAATAAATGTAACATTTCTGGGGATGAGGCA ATCCAACAATTGGTTTTAAGGGCTTCATAAATATATGGCTTTTGATCCAA TAATTCACCTCCCAAAAATTTAACCTAAGGAAATGGTTA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0069 a0001c0001t0004g0069	1	404	0.0025	-1188	c.156 others(18): Show c.1567-1584_1567-397del		LONRF1	ENSG00000154359.13	transcript	ENST00000398246.8	protein_coding	7/11						chr8	TogoVar
MARCHF1_chr4_163519718_164389019	163692563	TACCACAG others(1181): Show TACCACAGGGCTGGATTATGGCTCCTTGGCCCCTGAAAGAATTTATGTTT TATTTCAAGTAATATAGAAAACCATTAGAGGTTTTGAACAGCAGCAAGAC ATTAGCTAACTGATATTTGGAAAGGATCATTTTGGTTGTTGTATGAAAAA TAGACTTAAAAAATATAAGGATGATTGTTTCCACCATGTCACCATTTAGC TTCTCGGTCTGTTCCCTGTAGAAAACTGGTAGGTCAGGCAAATGACAGTA GATCATGGCAAATGCAACCAAGTAGAAGCACTAACTGAAGCTGTTGTGTG CGGTATGTAATATCTTTACTAGAGAAGAACAACACAATATCTGGCATGTG GTATGAGGCTATTAATCCACGAATGTGTTCTTTTCAATATTTGTCATAAA TGTGGATCAAAAGCAGTTTGTATTCATCTGGCATGGACGTTAATATACAA TCATGGTCCTGTTCCAGGGATATTTTGCAAAACAGATAGGAGGTAGACTC AAATGTCCAGTGGTTGTCAAATATCAGAACAGTCCATTGTATTTATGATA TCATCAGGTATAATGAGGTCTAATGAGCAGGAAGGGCCAATAATCTGAAT GCTTTGTTAGGATATCTGTGTCCCAGAGAGTAGGAAATAAAACGAACGTA TCTTCAGGAGCTGGACAAATCAGTGAAATTTTTAGAAATTCTGTAGTCTA CTGCATGCTAGTGCATTTCTTCCAGAGTTAAGACCAAATTTTGCATTTTA CTTTACTATCAAGAAGGACCCAGGCTGTTTGGTAGAACTCTTTGAATTTT AAACACAGCATAAACCACATTTTGGAATGATGCCTCTTTAACAGATGACT CAGAAAGCTGCAGTTCTGAGTGGGGCCTAGAATGATAGAAGGTTCTGCAG CAATATCAGCTGCAATACAAGCACCCTTGATGCCACAGCAATAATAAATG GCAATACTACTAGAGGTACCATGATAAATAAAAATGCAATGTGGGCTCTC TGTCAAATCTGAATGGAGAACTGCAGTGAAAACCCTAGTGTTCTGGATCA AGGCCATACTATTGCAGCATAGTTCTTTCACCATTTGGAAAGCAGCTCCT AACAAGCTACCTGGCCATAGTAAGACTAAAGGCCTTTGTATGGACATCAG TTGACCATATGACTGGAACTATCCCTCATGAGCTTAATA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02293.hp2 HG02451.hp2 others(10): Show HG02165.hp2 HG02293.hp2 HG02451.hp2 HG03540.hp1 HG03579.hp2 NA18522.hp1 NA18944.hp2 NA18963.hp1 NA18969.hp1 NA18984.hp1 NA19009.hp1 NA19066.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0002t0002 a0001c0002t0003 a0001c0008t0012	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0076 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0004g0052 a0001c0001t0004g0057 a0001c0001t0006g0008 a0001c0001t0006g0059 a0001c0001t0006g0087 a0001c0001t0006g0098 a0001c0002t0002g0080 a0001c0002t0003g0082 a0001c0008t0012g0026	13	102	0.1275	-1188	c.162 others(17): Show c.162+7062_162+8249del		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	5/9						chr4	TogoVar
MCF2L_chr13_112964214_113104742	113024936	CGGTCCCC others(1181): Show CGGTCCCCGTGACTGTGGGTCAGGGCAGAGTCTCTGTGAGGTTTCATCAT GGTGGGGTCCCCGTGACTGTGGGTTGGGGCAGAATCTCTGTGAGGTTTCA TCATGGTGGGGTCCCCGTGACTGTGGGTCGGGGCAGAGTCCCTGTGAGAT TTCACCAGGGTGGGGTCCCTGCAACTATGGGATGAGGCAGAGTCCCTGTG AGATTTCCCCATCATGCGGTCCCCGTGACTGTGGGTCAGGGCAGAGTCCC TGTGAGGTTTCCCCATTGTGGGGTCCCCGTGACTGTGGGTCGGGGCAGAG TCCCTGTGAGATTTCCCCGTCATGGGGTCCCCGTGACTGTGGGTCAGGGC AGAGTCTCCGTGAGGTTTCATCATGGTGGGGTCCCCGTGACTGTGGGTCG GGGCAGAGTCTCTGTGAGGTTTCGTCATGGTGGGGTCCCCGTGACTGTGG GTCGGGGCAGAGTCTCTGTGAGGTTTCATCATGGTGGGGTCCCCGTGACT GTGGGTCGGGGCAGAGTCTCTGTGAGGTTTCATCATGGTGGGGTCCCCGT GACTGTGGGTCGGGGCAGAGTCTCTGTGAGGTTTCATCATCGTGGGGTCC CCGTGACTGTGGGTTGGGGCAGAGTCTCTGGGAGGTTTCATCATGGTGGG GTCCCCGTGACTGTGGGTCGGGGCAGAGTCCCTGTGAGGTTTCCCCATTG TGGGGTCCCTGCAACTATGGGATGAGGCAGAGTCCCTGTGAGATTTCCCT GTCATGGGGTCCCCGTGACTGTGGGTCGGGGCAGAGTCCCTGTGAGATTT CACCAGGGTGGGGTCCCTGCAACTATGGGATGAGGCAGAGTCCCTGTGAG ATTTCCCTGTCATGGGGTCCCCGTGACTGTGGGTCGGGGCAGAGTCTCTG TGAGGTTTCATCATGGTGGGGTCCCCGTGACTGTGGGTCGGGGCAGAGTC CCTGTGAGGTTTCCCCATTGTGGGGTCCCCGTGACTGTGGGTCGGGGCAG AGTCCCTGTGAGATTTCCCCGTCATGGGGTCCCCGTGACTGTGGGTCGGG GCAGAGTCTCCGTGAGGTTTCATCATGGTGGGGTCCCCGTGACTGTGGGT CGGGGCAGAGTCCCTGTGAGATTTCCCCATCATGCGGTCCCCGTGACTGT GGGTCGGGGCAGAGTCTCTGTGAGGTTTCATCATGGTGG	C C	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0084 a0001c0004t0004g0084	1	116	0.0086	-1188	c.278 others(16): Show c.278+199_278+1386del		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
RASA3_chr13_113972783_114137623	114085606	CCGGGGAA others(1181): Show CCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGA AATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCG GGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCT CGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCG TCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCC TTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGAC TCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTAT CGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGA GTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTC TGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTG AGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGT GCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGG AAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCC GGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAA TCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGG GAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCG CGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTC CTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTT CCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTC CCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCG ACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGT ATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTG GAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAG TCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0067 a0001c0002t0002g0067	1	67	0.0149	-1188	c.56- others(17): Show c.56-12957_56-11770del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
FRMPD4_chrX_12133473_12729523	12621961	AAAGAAAG others(1180): Show AAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AAGAAGGAAAGAAAGAAGGAAAGAAGAAGAAAAGAGGAGAAGAGAGGAGA GGAAAGGAGAGGAGAGGAGAGGAGAGGTGAACTATAAAAAGAACCAAACA GAAATCCTGGAGCTAAAGAATACAATGACAAAACTAAACATTTTAATAGC TTCAACAGCAGACTCAATTATGCAGAAGAATCAGCAAATGTGAAGACAGG CTATTTGAAATTACCCAGTTAGAGGAACAGAAAGTAAAAAGAATAAAAAA GAGTAAAGGAAGCATACAGGTCCTATGAGATACCATCAATTGAATGAATA TATGCATTATGGGAATATTAGAAGGAGAAAAGGAAAAAAGGGGAAAAAGC TTATTTAAAGAAATAATGGCTGAAACGTCCTAAATCTTGGAAGGGATATG GACATCCAGATTTATACAAATCAAAGGGTCTCAAGCAGAATCAATCCAAA GACTACTCTAAGACACATTATAACCAAATTTTTAAAAGCCAAACACAGAC ATAGAATATTGCCCCTAAGAGATATCATTTGAGATATATAAATTACATGA AAAATAATACAAAATAATCACCTTAATGAAGCTCAGTGGGATACAAGAGA ACACAGACCACCAAGAAAAACAAAAAGCAATACATAAACAAAATAAAAAG TTTAATAAAGAAATACAGGTCAGGCGTGGTGATTCACATTTGTAATTCCA GCACTTTGGGAGGCCAAGGCAGGCAGATGGCTTTGAGCCCAAAAGTTCAA GACTAGCCTGGGCAACATGGCAAAACCCCATCTCTACAAAAATTAGCCAG ATGTGGTGGCCCGAATCTGTAGTCCCAGCAACTTGGGAGGCTGAGGTGGG AGGATGACTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCCAAGATCACAC CACTGCACTGTAGCCTGGGCAACATAGCCAGACCCTGTTTCAAAAAAAGA AAAGAAAAGAAAGGAAAAAGGAAAGGAAGTAATAAGGAAAGGAAAAAGGA AAGGAAGGGAAGGGAAGTGAAGGGAAGGGAAGTGAAGGGAAGGGAAAGGA AGGGAGGAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0067 a0002c0005t0001g0067	1	174	0.0058	-1187	c.422 others(17): Show c.422+7083_422+8269del		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
LBR_chr1_225396502_225433038	225420036	GGTGGCTC others(1179): Show GGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGA TCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCC TGTCTCTACTAAAAATACAAAAAAATTAGCCACGCACGGTAGCGGGCACC TGTAATTCCAGCTACTTCGGAAGCTGAGGCAGGAAAATCTCTTGAACCCG GAGACGGAGGTTGCATTGAGCCAAGACCGCGCCATTGCACTCCAGCCTGG GCAACAAGAATGAAACTCCGCCTCAAAAAAAAAAAAAACAACTTTGATCT TTCACGTAATCAGACTGAATGTCATAATTTCATTGATAGATTTTAGGGGT ATTTACTATGAAAGGCAGAGAAAGTAAAAATTGGTAAATTAGTTCATTAA CTGGATAAAAAACAAAAGACATTCAAAAAGACATTCACTGCTCCAAAATA GCCCATAATGGAAAACTAAGAAATAGTGGGTACTTATGCAACACACAGTA GGCCCAAGGCACTACCAGGTAAGAGGCAAAGCTTCTGTGGTTCTTGTGAC ACCAGGACTGTAAGATTACACTGTAAAAATATAGCAGTCACTAAATATTA AAAATGAAAGGATAACAAAGTATCACACAGCATCTGTTCCTGGAGTCCCG GGGTGGTAAAGAGAGCCACTAATAGTTAAAATGTTCTAATTCAAAATATA AGTTAGAACAGTAAGTTGAAAATGTCTGACAGCCACATTCTCCAAAAAAA AAAAAAAAAATTATAATACTCAGAATGAGAAACTGAGCATTCATACACTG ATACTACTATAAACTTTCTTGATGCAATCTGGCAATATGTATTAAAAGCC TCAAATCTGCACCATACAGCTGACCTAGCAGTTCCACTTGTAAGAATCCA TCCTAAGGAAATAATCAGATGTTACATAAAAATACTTGTTTGTAATAGTG AAAATATGGAAGGAAAAACACTAAATGTCTATCATTGACAGAGCTGACTT TAACGATTAAGTTACATGTATACAATTTACCATATATCCATACTATAGAA TACAACAACAAAAATGATGTAGAAAAATACACTCTGAAAGGTTATCCCAA TATTTTAAAATGTCTTAAAGCTGACTACTGAGCAGTATGTATATAATCCA GTTTTTAAAGTTTATTAAAAGTCTGTTGCCGGGCGCA	G G	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	338	0.0030	-1186	c.366 others(15): Show c.366+855_367-239del		LBR	ENSG00000143815.15	transcript	ENST00000272163.9	protein_coding	3/13						chr1	TogoVar
FRMPD4_chrX_12133473_12729523	12622059	GAAAGAAG others(1178): Show GAAAGAAGGAAAGAAAGAAGGAAAGAAGAAGAAAAGAGGAGAAGAGAGGA GAGGAAAGGAGAGGAGAGGAGAGGAGAGGTGAACTATAAAAAGAACCAAA CAGAAATCCTGGAGCTAAAGAATACAATGACAAAACTAAACATTTTAATA GCTTCAACAGCAGACTCAATTATGCAGAAGAATCAGCAAATGTGAAGACA GGCTATTTGAAATTACCCAGTTAGAGGAACAGAAAGTAAAAAGAATAAAA AAGAGTAAAGGAAGCATACAGGTCCTATGAGATACCATCAATTGAATGAA TATATGCATTATGGGAATATTAGAAGGAGAAAAGGAAAAAAGGGGAAAAA GCTTATTTAAAGAAATAATGGCTGAAACGTCCTAAATCTTGGAAGGGATA TGGACATCCAGATTTATACAAATCAAAGGGTCTCAAGCAGAATCAATCCA AAGACTACTCTAAGACACATTATAACCAAATTTTTAAAAGCCAAACACAG ACATAGAATATTGCCCCTAAGAGATATCATTTGAGATATATAAATTACAT GAAAAATAATACAAAATAATCACCTTAATGAAGCTCAGTGGGATACAAGA GAACACAGACCACCAAGAAAAACAAAAAGCAATACATAAACAAAATAAAA AGTTTAATAAAGAAATACAGGTCAGGCGTGGTGATTCACATTTGTAATTC CAGCACTTTGGGAGGCCAAGGCAGGCAGATGGCTTTGAGCCCAAAAGTTC AAGACTAGCCTGGGCAACATGGCAAAACCCCATCTCTACAAAAATTAGCC AGATGTGGTGGCCCGAATCTGTAGTCCCAGCAACTTGGGAGGCTGAGGTG GGAGGATGACTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCCAAGATCAC ACCACTGCACTGTAGCCTGGGCAACATAGCCAGACCCTGTTTCAAAAAAA GAAAAGAAAAGAAAGGAAAAAGGAAAGGAAGTAATAAGGAAAGGAAAAAG GAAAGGAAGGGAAGGGAAGTGAAGGGAAGGGAAGTGAAGGGAAGGGAAAG GAAGGGAGGAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	174	0.0058	-1185	c.422 others(17): Show c.422+7181_422+8365del		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16					INFO_REALIGN_3_PRIME	chrX	TogoVar

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Search Results (Total: 2609 hits)