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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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HBQ1_chr16_175459_186179	179343	AAAAAGAA others(1560): Show AAAAAGAAATGAAGCACTGATAGGATGTAGCTGCACCCTGAAAATATTTG ACAAGTAAAAGAAGCCGGACACCAAAGGTCACAAACTGCATGACCCCATC TATATGCAATATCCGCTACAGCCAAATCCATAGGGACCAAAAGCGGATTA GTGGCTGCCGGGGCCAGAGTTACTGTTAATGAGTACCGAGGTGGCGTTTG GGATGATGAAAAAGTTCTGACCTAGATAGTGGTGATGGCTGCATAACACT AAGTGTTCTTAATATCACCAAATTTTATACCTGAAAAATGGCTACAATGG TAATTTATGTCTATTTTATCACCTTTTTTAAAACAAAAAAGATATAAGGG GTACAGCAGAGTGAGTGCTGCATATGCATTTACTATTATTCTTGGGTTAC ATCCCAGGTACTCAATAAATGTTCACTGCCCTGAAGAAACACCTGCTACG AGTCAGGCACCTCACAGTTGTTATCCGTTTAATTCTCACAATCTGAGAAG AAACTGTCACCCTCATTTTATATAATAAATGAGAAAACAGACTCGGGCAA GTGTCACAATAGAATCAAGAGGCAGAATAAACTGACTTCCAATGCCAAAT CCATGCCGAAATTCAGTGCTATAATAATGTACATGGCCGGGCGCGGTGGT TCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGGGAGGATCACCT GAGGTCGGGAGTTTGAGATCAGCCTAACACGGTGAAACCCTGTCTCTACT AAAAATACAAAATTGGCATGGTGGCATGCACCTGTGATCCCAGTTACTCG GGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCGGAGGTTGCAGT GAGCCGGAATGGCGCCACTGCACTCACCGCACCCGGCCAATTTTTGTGTT TTTAGTAGAGACTAAATACCATATAGTGAACACCTAAGACGGGGGGCCTT GGATCCAGGGCGATTCAGAGGGCCCCGGTCGGAGCTGTCGGAGATTGAGC GCGCGCGGTCCCGGGATCTCCGACGAGGCCCTGGACCCCCGGGCGGCGAA GCTGCGGCGCGGCGCCCCCTGGAGGCCGCGGGACCCCTGGCCGGTCCGCG CAGGCGCAGCGGGGTCGCAGGGCGCGGCGGGTTCCAGCGCGGGGATGGCG CTGTCCGCGGAGGACCGGGCGCTGGTGCGCGCCCTGTGGAAGAAGCTGGG CAGCAACGTCGGCGTCTACACGACAGAGGCCCTGGAAAGGTGCGGCAGGC TGGGCGCCCCCGCCCCCAGGGGCCCTCCCTCCCCAAGCCCCCCGGACGCG CCTCACCCACGTTCCTCTCGCAGGACCTTCCTGGCTTTCCCCGCCACGAA GACCTACTTCTCCCACCTGGACCTGAGCCCCGGCTCCTCACAAGTCAGAG CCCACGGCCAGAAGGTGGCGGACGCGCTGAGCCTCGCCGTGGAGCGCCTG GACGACCTACCCCACGCGCTGTCCGCGCTGAGCCACCTGCACGCGTGCCA GCTGCGAGTGGACCCGGCCAGCTTCCAGGTGAGCGGCTGCCGTGCTGGGC CCCTGTCCCCGGGAGGGC	A A	exon_loss_variant exon_loss_variant	HIGH	HG02886.hp2 HG02886.hp2	a0000 a0000	a0000c0008 a0000c0008	a0000c0008t0004 a0000c0008t0004	a0000c0008t0004g0005 a0000c0008t0004g0005	1	384	0.0026	-1567	c.-11 others(12): Show c.-1143_300+40del	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding	1/3			chr16	TogoVar
KCNJ16_chr17_70070225_70140608	70106953	AATATCTG others(1560): Show AATATCTGCTTTAAAGTGGCTTTTTCCTGATGGTTTCTTCTACCATTGTT ACAGTAGCTGCCTCAAATCAGCCAAAGCAGAAGTTCCTATTTTGCTTGAG AGCTTAGGCTTCAGGCAAAAACTACTGACATTTATGAGATACCTAGTATT TTACAATGCTATCTGGTTAAATTCTTATAATTGTCCTTTTAAAAAGACAG AGAACACAGAGGTAAAATAACTGCTCTGAGTTCACATAGGCAAATGTTGG AGACGAGATTCAAACAGAAACTAGACTGACTCAAAAATCAAATCTAAGTG ATGAAAGTAAAGGTACTGTTTTGTTTGCATCACTTAATAATTCATCTGGA ATCACAAGTCATGATAAGAACCTAATAAGCCATATCATCAAAACCTGAGC TTGGGTCACCTTCAAGATGCAACACACCCAACATCACAGTAGATTCAGGG GCACCCTGAAACACAAGAGTAAGAAACAGAAACATCTATCCTTAGAGACT ACCCTTGTAGCCATTCTGCTGAGTTGTATTTTTTTTTCATTGTTGCTTAG AAGATCCTTGATCCAGTCTGAGTGTTTTGTTTTCTTTGAGCCCTATGCAG AATTACAGAATGAAAATGAAAACAGGTCAGCTAAAATTAAGAAGTCAATG CAATGAGCAAAGGCACAGACAGTACCAAAACATGGGTCAGGATGATCTGT CCTGTTGGCATGACAAATATGGCTCACAATTTTTTTAAAAAAAAAATTAG AAGACTCAAGTCTTTTGACTTTACTGAGAAGATGAAGTCTGACACTGTTT ATTTCCAATCTTCTTGGAAAGACTTTCACCACTGTTTATCTCATAAAATT GGAGTGCTATTTACCAGTTAATAAGAAAATGGCATAACATAAAACCTTTA AATACTAATGTTAAAAGAGAACTTCAGAGTTTTCTAGTTCAACCACCTAG CAAACTCATGAAGCTCTTCCTTAAATTCTTCAAGTTGATTATCCAAATTC AGAGTTAACACTCAGTAGATTGCTTCTGTTGTAAGGTACTAACAATAAAA ACATTCTTCATGATACAGACATTAAATCTACATCCCTGTAAAATTCATAA GCAGATTCTAGCCCCGCCCTTTGTAGCACCATAGAGCAGGGCCCCTGTCT CTACTGCATGAATACAGAGTATTCGTAACTGCATTCAAGGGTGTGAACCA ATTGCAGCCAGGGCCATGTTTTGACTATCTCAGCATACCTAGATCACAGT ACAGGGAACATAGCTGGTGTTCAATAAAAGCTTTGAATATGCGAGTATAT ATCACCTTTAATAGTTTCTTCTCTGTTTTTTCTTTTTCCTGATTTCAGAC ATCCACATTCCACCCTGGGCCTTGCCCGTCTGGTGAGCCCAATCTCTGCT GGTCAGTCACGCAGTTGAGGTCAGGGAAGGTATGTTGGGATGGGCTGACA TGAGGGGTAATGAGGGTCAAGATGAAAGTTAAGGCTAGGGACATTCTTTT GTGTGTGCATAGTTTAAAAGACAAATCAGTCATTTTGCATGTTGATATCT ATAAATGACCACATCAAC	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	330	0.0030	-1567	c.-19 others(19): Show c.-191+6207_-191+7773del	KCNJ16	ENSG00000153822.15	transcript	ENST00000392671.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MALRD1_chr10_19043801_19739478	19296779	GAAGCAAT others(1560): Show GAAGCAATTGTTAATTATGTTATACTTGTTCTCTTTGAAAAGACATTTGT GAGAAATTAGTTTGCAGTCTTTTATGAGCACATGATGTAATTTTAGTGAA GAATCAGTTTGTTTTTGTGTTTTCATAAGGCTCTCATGATTATTACTAAT TATGTTTTCTTCCTCAGATTGGCTCATAGAAAGCTTAGAACCAAATTTTT CATATGTTGTTAGTAAGTCTGTGAAATTTCTATAATGCCTTTTGTGATCT ACTTTTATCCTTGATTCCATTTAGTGCCTCAACTCTTTTCTCTTGGTATT ATCTTTATTTATATATAAATATATATATATTTGTGTGAGTGTATCTTTTA GTTTATTATATTGTACTGTATTTCATGTGTTTTTGAGAATAAGATGAGTT TTAAGTAAACAATAAAATTAAATTTTAAAAGTATAAGCATTATTAATGAT CTCATTAGAAATATACAAGTTCTGTGAACTTTGTTTTAATTGAAATAATT ATTTACTTATAATTGTTTTCACTTTATGAACTAATTTTCTCATTCACTGT AAAATAATTTAAAACAGTTAATTCTATAATCATAAGATTAAAAGAGGGAG TATATATAGATTGGGTTTTCTTTAGGTAACTAAAAAAATATTTAGACATT TTATTAGTGGCACGACGGTAAGAGTAGTGCAGTTTGTGGAATAATAAAGT TTGGGGTAAGAGTATAGATCATCATGGCTATTTTTAAGACTTTTCTTTAT ATATATAGTTACACTTTTATAAGAATGTAGTGGCTGCATACCCTGCCTCA TAAATGTATAAACTATATTTATAGCATTATTTGTATGCCCTATGAAATAT TACTTTCGAAGGCATGTTAAAATGCAATTTTATAGCTATTTTGCATACAA GATATGAGAAATATTTTATGCAAGTAACAGGGGATGCAAAGATCTTTAAA TTTAGATTTAAAAAACTGTGTCATTTAAAACAAAGTAAGGACCCGAAAGA AGATACAAAGTATTCTATGGGAACTGAAGAGAGAGGCTTCATATCCAGAA AGGGAAAAAAAAGGCATTATGGGAAAGGTAATTTTTGAGTTGGCTGTAAA GCATTGCATAGAATTTCATCAAGCAAAGCGATGGCTACACCCAACATGGG GAAATAATAAATGATTATTTTATTATATAAAATCTTAGTGTCTAAGAGCA ACGGCTTGGGAGTTGTCTTCATCCATTTTGTGTTGCTCTAAAGGAATACC TGAGACTGAATAATATATAAATGAAACAGGTTTATTTAGCTCATGGTCTG CAGACTGCACAAGAAGCATGGTGCCCGCATCTGCTCAGTTTCTGGTGAGG AATTTGTGCTACATCAAAACATAGCAGAAAAGGCCAAAGGGGAAATGGGC ACATGGGAAGAAGGACCAAGCCTAAGAGGCTTCCTTGCTTCATAACGACC CACTAATCCCTTCCCCACAAGAATCAATCCAGTCTCCTGAGAGTGGGAAC TCACTACTGCTAGAAAAGCACAAGCCATTCATAGATAATCAGCGCCCATG ACCCAAATATCTCCTGCT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0038 a0038	a0038c0042 a0038c0042	a0038c0042t0001 a0038c0042t0001	a0038c0042t0001g0023 a0038c0042t0001g0023	1	152	0.0066	-1567	c.341 others(21): Show c.3419+13599_3419+15165del	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39			chr10	TogoVar
DLGAP2_chr8_732628_1713476	991065	AGACCCCC others(1559): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTT ACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCCCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGT TCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTC CTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGA GTTCCTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACT CGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCA TACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCCCCTGCACC CCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCCCCTG CACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCC CCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCAG ACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGC CCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACC TTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCC CCCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCT CTCCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTC TTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCT GTTCTTCTCTCCCCCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGT TCCTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCG GAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATA CTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCC CATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCTGCA CCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCGGACCCCC TGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGAC CCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCC GGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTT GCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCACCTTACCCG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	1	40	0.0250	-1566	c.73+ others(17): Show c.73+83149_73+84714del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	991272	ACCTTACC others(1559): Show ACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTC TCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCT TCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTG TTCTTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTT CCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGG AGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCCCCTGCACCCCCATAC TCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCCCCTGCACCCCC ATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCCCCTGCAC CCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCT GCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCGGACC CCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCG GACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCCCCTTG CCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTC CTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTC CCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTC TCTCCCCCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTT CTTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCC TGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAG TTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTC GGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCAT ACTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACCC CCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGC ACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCCC CTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGA CCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCC CAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCT TGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCC ACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTC TCCCACCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCT TCTCTCCCTCCTTGCCTGGACCCCCTGCACCCCCATACTCGGAGTTCCTG TTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTT CCTGTTCTTCTCTCCCT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0013 a0002c0001t0002g0013	1	40	0.0250	-1566	c.73+ others(17): Show c.73+83311_73+84876del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
RASA3_chr13_113972783_114137623	114084185	CTCCTCGC others(1559): Show CTCCTCGCGGGGAAATCCCGGGGAAGTGGTGAGTCTGGAGTATCGACTCC CTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCACGGGGAAGTGCT GAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAG TGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGG GAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCC CGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAA ATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGG GGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTC GCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCT CCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCT TCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACT CCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATC GACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAG TATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCT GGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGA GTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTG CTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGA AGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCG GGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAAT CCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGG AAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGC GGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCC TCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTC GTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCG	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	67	0.0149	-1566	c.56- others(17): Show c.56-11914_56-10349del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
ASMT_chrX_1610059_1648081	1638643	ATGATGGG others(1558): Show ATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGG CACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC CACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCAC ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG CTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACA GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT CCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA GGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCAT GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG TCCTGTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCC TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCC ATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAAG GACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGA GGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCT GTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTG TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA TGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATG TGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTG AGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGA TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG GTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGG CACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC ACAGCCTCTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	223	0.0045	-1565	c.910 others(17): Show c.910+2123_911-2556del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1638694	ACATGAGG others(1558): Show ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT CCTGTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCCT CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAAGG ACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAG GACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTG TGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGT GTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTG ATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT GTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGT GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA GATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTG TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT CCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGG CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG TCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTG TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGC ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCC ATCCCTCCTGATGGTT	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	223	0.0045	-1565	c.910 others(17): Show c.910+2148_911-2531del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1639517	ACATGAGG others(1558): Show ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT CCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCT CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG ACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGG ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCC TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC ATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCATGAGGAC GTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGA GATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTG TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT CCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGG CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG TCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTG TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGC ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCC ATCCCTCCTGATGGTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG01070.hp1 others(24): Show HG00438.hp2 HG00544.hp1 HG01070.hp1 HG01071.hp1 HG01168.hp1 HG02630.hp1 HG02683.hp2 HG02809.hp2 HG02976.hp2 HG03239.hp2 HG03669.hp2 HG03704.hp1 HG04184.hp1 NA18949.hp1 NA18951.hp1 NA18963.hp2 NA18973.hp2 NA18986.hp2 NA18988.hp1 NA18998.hp1 NA18999.hp1 NA19002.hp2 NA19065.hp2 NA19077.hp1 NA19077.hp2 NA19085.hp1 NA19091.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0014	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006 a0009c0014 a0014c0018	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0006t0001 a0009c0014t0002 a0014c0018t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0043 others(24): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0137 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0002g0152 a0001c0001t0002g0170 a0001c0003t0001g0013 a0001c0003t0001g0038 a0001c0003t0001g0051 a0001c0003t0001g0093 a0001c0003t0001g0094 a0001c0003t0002g0149 a0002c0002t0001g0087 a0002c0002t0001g0099 a0002c0002t0001g0126 a0002c0002t0001g0220 a0002c0006t0001g0104 a0009c0014t0002g0075 a0014c0018t0001g0060	27	223	0.1211	-1565	c.910 others(17): Show c.910+2971_911-1708del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMOC2_chr6_168436184_168672992	168604311	CATGGCTA others(1558): Show CATGGCTAAACCCACTGCTGGCAAGAAAAATTGAGTTGGTTTACACTGGT TTGAATTGATCACCTAGGGAGACATGGGTACTGGGCACCAGGCAAAATAA TCAATATTAGGCAGTATCTGATAAGCCACAGCCAGCTTCACCATTCCTCA TCTCCCAGTGATTCTGCCATTATTGAGTAACCAGGTCGCATTTCTATTTA AATGCCCTCTGTTCCCTCAGCGCAATTTTCTTATTAATTTTCTGAAATAA GCAGCCCCAGGGAGATACTTCATAGTTTTGATTTATACCTGGGTTGGCAA TTAAGATGTTTGTTTTCTTTAATCATCCTCTAAATTTCCTGATGGGGAAG AAACATTTAATAATCCAGTAACAGTAAGAAGCTATAAACATAAATTGCAT CGTCTTTGATATGTGACCTCTCTTATCCTCATGTCACCATGCATGAGAAT TAAAAGGCGTTAGTTTTGTGGCAGACTCATCCCAAGGACCACAAGTACAT GCCACTCTGCCCAGATGAGGCAGGAGCAGCTTGCTCTGGTGCAGTTTCTA GTTGGACCCATCACTTAGAAGGAGATATGAGGAGGGGCAGAGGCTTCAGC CCTTCCTAGTGCCCCTGACTTTTGTGTCAAAATTGGCATCTTCGTCATTG TTTGCAGATCCCGGAAGGAGGGGTCCAGGCACCTGTCATGAGTGCAGGCC CCCATGAATGGTAGAGTCCAGGTGGGAGCCGAGGGGCAAGTTTCCCCTCA GCCACTAACAGTAGTGAGGAGAGAATGGGAAGGGGCCATCAGACTGAGCT GAGTCAGGCTGATGGCCAGATTCTGCATTCATGCCCAGAACAGAGAGGCT GATGAAGCCTTTGTCTGTCTGCCATCCAACTGCTGGCTGTTCCTACCTCA CATCTGGGCAGCCTCTGTTCCTGGACCCCAGAGCATGTCTCTCAATGAGG TGTGTAGCCTCTGTTCCCCAACCCCAGAGCGTGTCTTTCAGTGGGGTGTG CAGGGGATCATGTGGGCATAGGACTGCATTTCTCCCTGGCAGAGAACCTG GTATCTGATGGGCAATGAGAGAAGAGACGTTTGTGTTTTTCCTTATACAA ATAAGTTAAAATAAACCTATTGAAAAGAATGGTGATGGATGACAAAGCTG AAATTAACGGACTTATTTCTCCTCTTTCTCCTCTCTTGAGATTGTCAATT CTGCAAGTCATGGGCATTTCACACTACTCATTAAAACAAGCAGAATACTG TCATGTAAATATATATTTTTATATTAGCATCAGTGATAGGATTTGCAACA TACCTCTATCCCAAATGTGGAACAAAACCGAAATGCCCGTCCAGGTGGCT GGCTTCCTGATTGCTTCGAAGCTAGGAGATTTGGAATGAGGGTAAGAAAT GATCTAGTCTCGTGCCACCCATGTGAAGGATACAGGTACTGATCCTGAAG GGCTTCAGGGGCACAACAGAGTTCATGTTAACACTTCCTTTTTCTAACAC TACAGAGCAGTCCAGGGCTCTAAGGAGGTGTGCCCTCTGATACTCGGAGA AGCAAGATGGCCCCTA	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	180	0.0056	-1565	c.825 others(17): Show c.825-3844_825-2280del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
DLGAP2_chr8_732628_1713476	1399998	GAGTCGTG others(1557): Show GAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGT CGTGTATTGAGAGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTG TATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCGGAGTCGTGTATT GAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGA ACTTACTGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTT ACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGAACTTACTG AGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCG CCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCAC CTCCTCATCCTCCAGGGTAGTGTATTGAGTGCTTACTGAGTGCCACCTCC TCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCAT CCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTC CAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGA GTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCG TGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAAAGTCGTGTA TTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGA GTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGC TTACTGAGCGCTCCCTCATCGTCCTCCGGAGTCGTGTATTGAGTGCTTAC TGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAG CGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCT CCCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCT CCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTC GTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCC TCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCA GAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGT CGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTG TATTGAGTGCTTACTGAGCACTCCCTCCTTGTCCTCCGGAGTCGTATATT GAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGT GCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTT ACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTG AGCGCTCCCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCG CTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGAGCTTACTGAGCACTCC CTCCTTGTCCTCCAA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0018 a0002c0001t0001g0018	1	40	0.0250	-1564	c.107 others(20): Show c.107-101339_107-99776del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
SYMPK_chr19_45810410_45868147	45844410	TGCCTGTA others(1557): Show TGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAG GTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTAC TAAAAATACAAGAAATTAGCCCAGGTGTGAAGGCCTGTGCCTGTAATCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGA GGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGA GTTGGACTCCATATTAAAAAAAAAAAAAATTTAGTTATAAAGATGTTCAA AGCATGGGCTTGCAATAGTGAAAGACTAGAATACATGTGTATATACACAC AACTCAAAGTCCCTTGTGACACCACTCCCCTCAATACAGTCCCCAAAATT AATGCTTAAAACTTTGGTGGATATCTTTCCAGACCTTTCCTATACAGAAA CATAACGAATGCCATATATATGTTTTTAACTTAAAAAATTTTAATGGGTA TATAGTAGGTGTAAATAATTATGGGGTACATGAGATTTTGATACAGGCAT GCAATGCATAATTATCACCATCAGGGTAAATGGGGTCTCCATCACAAGCA TTTATCCGTTTTGTTACACACAATCCAATTATACTATTTCAATTATTTTA AAATGTATGATTATTTTTTAGTATAGTTACCCTGCTGTGCTATCAAATAC TGGATCTTTTTTTTTTTCCCTGAGATGGGGTCTCACTCTGTCACCCAGAG TGGAAAGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCACCACCCAGAC TCAGGTGATCCTCTCAACTCAGCCTCCTGAGCTGCTGAGACCACAGGCAC ATGCCACCATGCTTGGCTATCAAATACTAGATCTTATTTGTTCTAACTAT TTTTTTGTACCCATTAACCATTCCCACTTCCTCCCCAACCGCCCATTACC CTTTTCAGCCTCTGGTAACCATCATTCTACCGTCTGTCTCCATGAGTTCA ATTGTTTTCATTTCTAGCTCTCACAAATAAGTGAGAACATGCAAAGTTGT CTTTCGGTGCCTGGCTTATTTCACTTAATGACTTCCACTTCCATCCATGT TGTTGCAAATGACAGGATCTCCTTCTTTTTTATGGCTGAATAGTATTCAA TTGTGTATGAGTACCACATTTTCTTTATCTATTACTCTGTTGATGAATAC TTAGTTTGCTCCGAAGTCTTGGCTATTCTGACTAGTGCTGCAATGAATAT GGAAGTGCGGGTTATCTTTTTGATACAGTGATTTCCTTTATTTCGGTTAC ATATCCAGCAGTGGGATTGCTGAATCATATGGTAGCTCAATTTTTAATTT TTTGAGGAACCTCAAAACTCCAAACAATTTTTAGGCTGTAGTAAGTGACA TTCTCACCAACAGTGTACAAGTGTTTCCCTTTCTCCACATCCTCGCCAGC ATTTGTTGTCTTTTTGATAAAAGTCACTTTAACTGGGGTGAGACATTTCA TTGTAGTTTTGACTTGAACGCCACATTATTTAAAATAGTGAATTAGGCCG GGCGCGGTGGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	392	0.0026	-1564	c.677 others(16): Show c.677-1774_677-211del	SYMPK	ENSG00000125755.19	transcript	ENST00000245934.12	protein_coding	7/26			chr19	TogoVar
TPH2_chr12_71933845_72037440	71962796	GCAACCTC others(1557): Show GCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCTA TTAGCTGGAATTACAGGCACACGCCACCATGCCTGGTTAATTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGACCCCC TGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAGAGTGCCGGGATTACA GATGTGAGCCACCGTGCCTGGCCTGAACACCTCTGCATTCCAGGCTCCAC CCTGGGTAGCAGGGATACAAAAATGAACACAGCAACAAAAATCTCTGCCT TCAAAAACTGTATATCCTAATAGGGAGACACATTTAGCAGAGTAATATTT TGAATATTTTACTTTTTGCTTTTTTGCCCCGGGCATTACTGATAATATTT TATCATAAATTTATTGAGTGTCCTTTATGGTCTGAATCCTGAAGTCTAAT TTTATCAAACGCAGGACTCCCAGACTTTTCTTATGAATTCTTGGAAGTCA GTAAATAAAAATTACATTTGCTTTACGGTTAAACCTTAATTAGAATTCAT CATCAACTCCATTTACTGTGTGTATATATATAATATATATATAGCTATAT ATATTATATATGTACTAATACTATGTATTAGTGTGTGTATATACATACAT ATATATATATATGTATGTATATACACACATATATGTACTGCCCAAGAGGC CACATGTTTTCGTTTTTAAAAAATCTGCTTAGTGGCTGGATACTTTGGCT CACACCTGTAATCCCAGCTCTTTGGGAGGCCGAGGTGGGCGGATCACGAG GTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTAC TAAAAATACAAAAATTAGCCAGGTGTGGTGGCACGCGCCTATAGTCCCAG CTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGCAGAAG TTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGT CAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAATCTGCTTAGCAACTTCC ATTTGACATAGGTGGTATGACACACAGGTTGAAAACAAGACCAATCGAAT TAAGTGACTTGGGTTTTTAAAAAATTATTCTTCTCTTTACAGAAGTCTCA GCATATTTGAAATGCTGAGACTTCTTGTTGAAACCCAGCAAGCCTGAAAA GCAAAAAGGAGAAACCATTTCAGAGAAATTAAAGCATCAACAACTGGTGT TTATGCAGGAGTCACAAAGTACCCAAACAGCCACATATATCTCAGTTTCA TTCAAAACCTGAGAAAGCAAATCAATGGAAGATAATGGAATGGGATTTAA AAAAATGTATATATATATGCACATACATACTGATAATATTCTGGGCATAT ATATACACTTATATATATTAGTATATATATGCTTATTATATATTATATAT TAGTATATATAGCATTCTGGCAATATTCAGAAAAAATATATATATAGTTG TTTTGTTTTGAGATGGGGTCTCTGTCGTCCAGGCTGAGGTACAGTGGCAC GATCTCAGCTCACTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0004c0007 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0002c0005t0001 a0004c0007t0001 a0005c0008t0001	a0001c0001t0001g0019 a0001c0001t0001g0067 a0001c0001t0001g0176 others(223): Show a0001c0001t0001g0019 a0001c0001t0001g0067 a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0200 a0001c0001t0001g0229 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0291 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0068 a0001c0001t0002g0117 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0197 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0272 a0001c0001t0002g0276 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0004g0018 a0001c0001t0004g0271 a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0005g0042 a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0175 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0204 a0001c0002t0001g0222 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0262 a0001c0002t0001g0294 a0001c0002t0003g0028 a0001c0002t0003g0058 a0001c0002t0005g0029 a0001c0002t0007g0212 a0001c0003t0001g0014 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0070 a0001c0003t0001g0072 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0085 a0001c0003t0001g0097 a0001c0003t0001g0108 a0001c0003t0001g0128 a0001c0003t0001g0136 a0001c0003t0001g0146 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0169 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0199 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0213 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0227 a0001c0003t0001g0228 a0001c0003t0001g0237 a0001c0003t0001g0238 a0001c0003t0001g0239 a0001c0003t0001g0240 a0001c0003t0001g0241 a0001c0003t0001g0293 a0001c0003t0001g0303 a0001c0003t0002g0104 a0001c0003t0002g0143 a0001c0004t0001g0198 a0001c0004t0001g0249 a0001c0004t0001g0265 a0001c0004t0001g0270 a0001c0004t0001g0273 a0001c0004t0001g0278 a0001c0004t0001g0279 a0001c0004t0001g0295 a0001c0004t0001g0300 a0001c0004t0001g0311 a0001c0004t0002g0274 a0001c0004t0003g0039 a0001c0004t0003g0040 a0001c0004t0003g0041 a0001c0004t0003g0059 a0002c0005t0001g0011 a0002c0005t0001g0131 a0002c0005t0001g0133 a0004c0007t0001g0091 a0004c0007t0001g0092 a0005c0008t0001g0073	237	334	0.7096	-1564	c.609 others(17): Show c.609-9681_609-8118del	TPH2	ENSG00000139287.13	transcript	ENST00000333850.4	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADARB2_chr10_1172313_1742525	1235709	CCCTGTGT others(1556): Show CCCTGTGTCCTGGTGTTACTCCCCTGCTTTCAGGTGATCCACCCGCCTGG GCCCCCCAAAGAGCTGGGATTACAGGCGAGAGCCACCACACTGGGCCCCA CCATGATCTTTTAACAAGCCAATTTTTCCCACTGCTGTTCGCCCACATCT ATCTGTCTACACACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATGGC CATACCTCACAGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTG TGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCA CCAGCACAGGTGGGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCA TCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGT GAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGA GCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGC ATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCT CCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTC CCGGTGTTTACTCCCCCCTGCCTCCAGCCATGACCCAGGTGGGGCGGGAG AGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCA CCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTG GGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGT CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCCTGCCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTT TACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTA CTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCC CCTCTGCCTCCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCC CCTGCCTCCGGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTC TCCCTCCGGGTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTC CCTCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCC TCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0083 a0001c0001t0054g0083	1	106	0.0094	-1563	c.136 others(19): Show c.1362-3427_1362-1865del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
KAT14_chr20_18132863_18193035	18170776	GTCCGCCC others(1556): Show GTCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAC CGTGCCCGGCCTGAAAAAGATTATTTTCAAACAATTACTGCTCATTGACA ATGTACCTGGTCACCCAAGAGTTCTGATTGAGAGGTTTAAGATTAGTATT ATTTTCATGCCTGCTAAAACAACATCTATTCTGTAACCCATGGATCAAGG AGTAATTTTGACTTTCAAGTCTTACCATTTAAGACTCTTTTTAAGGCTAT TGCTATCATAGATAGTGATTCCTCTGATAGATCTGGGCAAAGACATTGAA AACCTTCTGGAAAAGGAGTCATCATTCTAGATGCCATTAAGAACATTTGT GATTCATGGGAGGAATCAAAATTTCAACATTTACAGGAGTTTGGAAGAAG TTGATTCCAAGCCTCATGGATGACTTTTGAGGGGTTCAAGACTTCAGTGG AAGAAGTCACTGTGGATGTGGAAAGAGCAAGAGAACTAGAATTAGAAGTG GAGCCTGAAGATGTGACCGATAAATGTCATGATAAAACTTGAATGAATAA GTGTTGCTTCTTATGGATGAGCAAAGAAAGTGGTTTTTTGAGATGCTATC TACTCCTGCTAAAGATGCTATGAACATTGTTGAAATCTCACAACAAAAGA TTTAGAATATTGCATAAACTTAGTTGATAAGTTAGTGGCACAGTTTGACT CAGATTTTGAAAGAAGTTATGTTGTGGGTGAAATGCTGTCAAACAGCATC ACATGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGTGAGGTCAGGAGTTTGAGACCAGCCTGGCCA ACATAGTGAAACCCTGTCTTTACTGAAAATACAAAAATTAGCCAGGCGTG GTGGTGTACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT CGCTTGAACCTGGGAGGTGGAGGTCTCAGTTAGCTGAGATCATACCCCTG CACTGTAGCCTAGGCAACAGGGCAAGACTCTGTCTCAAAAAAACCAATAT CTTTTGTGAAAGGAAGAGCAGGTCAATGTGGCATGCTTCAGTGTTGTCTT ATTTTAAGAAATTGCCCCAGCCATCCCAACCTTCAGCAGCCACCACCACC CTGATCAGTTGGCAACCATCAATATTGAGGCAAGAGCCTCTACCAATAAA ATGATTGACTCACTGAAGGCTCAGATGATCATTGGCATTTTTTAACAATA AAGTGTTTAAAATTAAGTCACACATTTTTTTCTTAGACATAATGCTGTTA TTGCACACAACAACAATATAGTGTCAACTTTTTTTTTTTTATTTGAGACA GAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTT ACTGCAGCCTCCACCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCC CGAGTAGCTGGGACTAAAGGTGCGTGCCACCACGCCCAGCTAATTTTTGT ATTTTTAGTAGAGATGGGATTTCACCATATTGGCCAGGCTGGTCTTGAAC TCCTGACCTCGTGA	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0192 a0001c0001t0003g0192	1	346	0.0029	-1563	c.166 others(19): Show c.1668+7862_1669-9341del	KAT14	ENSG00000149474.15	transcript	ENST00000688188.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
ZNF516_chr18_76352682_76500242	76393006	AGGTGGTC others(1556): Show AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTC AGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCC GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCA GGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGT GGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGG GGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0180 a0001c0001t0180	a0001c0001t0180g0322 a0001c0001t0180g0322	1	346	0.0029	-1563	c.181 others(21): Show c.1811-14266_1811-12704del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
EXOC2_chr6_480154_698139	594969	TTAATTAT others(1555): Show TTAATTATGATTAACACAGGCTCAGTATTTTAAAATTTAAGAATAAAGGA AGTTTTTAGTCATATTCTGACATGATCTTCTCACAGCTACCAGGGATAAG ATCACACTGCTGTGGAAAGGAATATGCAGAGCTTTGCTTCCTGCCAACAT CAAGATAGAAATAAGGAGAGGGAGAAGAATAGGGAAGGTTTAAATTAGAT AAAATAGTGAATGATATTAGAAAAAATTGTGAACAGTAAGACAATATAGT GGTAATCTGATTTTCCCCTCTACTATGCATAATCTGGATTATGTAAGAAA ACTAATACATTTTTGTTCATGATAAAGCTATCTCTATTCCTACTTGATGC TCATAAATTTCAAAGTCCAACAGGTATTTGACCTGGTTCTGATCTTATTT TTCTATTTCTTAGCGACTAAAAATTTCATTTAAAAAGGTAACAATTGCTC AGTATTTTCTCAAAGCATCGTAAATAAAATAATCATTAACAAATACATAA ACTATTGTTGACTTGTTTATATTTTTGCTCTTTTGCCTTTAAGATGACAG GAAAAATCGTAGTTAAAAGGCTCCTTAAAAGAATCTTTTTTGGCACTACC ACCTTTTAAACGATATCCAGTAAGTTATATACTCATAAAAACTGCACATG AGTTATCCATATAGATGGTAACCCACAACATAAAGAATTTGTACACTCAA CAAGATTTAACACACTACTATAGGCAAGTTTAACATAACAAGTGTAAACA GGCCAGAAATATACAAAGCACACGCAGTGAAGGAGCAGGGCAGGAAACAG CAGCCTCAGGACGTCTGAGGCTACCCAGCTGCGTGTCCTGGACACTACGC TCAACCTCCCTGCAACTCTGTCGCTTTCTAGGTAGAAAATAAAGCAGTTG GATGACAAATGTGTGGTTTATTTCCAGCTTTACATTTCTAGGATTCTACA AACCAGGAAAATCCCCTATATACATTCTTTCTTATGGAGGCAGCTTAGAG AGAAACAAGAGTGGGCTCTGAAGCCAAACAGGCGTCCCGTCCCCCGGGTC ACTGTGTGTGCTGGGCAAGCTTCCGTGTTTTCACCTGTACAATGGGCACC GCACAAGCGTCCTTTCATGGTGGTGATCAGGATTAGAGAGGACATGTAGA ACACATCCCGCACAGCGCCTGAGCATGCTGCACACGTGCAGGGGTGGCAG CATGCAAACACAGCACCCTCTCTTCATCCCACCGCCACTGCCTCTGCTTG CTTCCTCCTGGGCAATACTAGTGTGCTGCCAATGACGACGGCTCATACTC CCGCCGTACGCCTCATCACTAGGACACAGGTCCAGGTGCGGATCTTTTCC CCCGTTCACACTTGCACACACAGCAGCTTTCAGGCCAGACGCTCTTTTCA AGACAGTCTTTTCTTTTCAGAGACAGGATCTTGCTGTCACCCAGGCTCGA GTGCAGTGGTACGATCACATCTCAGTGCAGTCTCGAACTCCTGGGCTCAA GAGATCCTACTGCCTCAGGCTCCTGAGTGGCTGGGTCTACAGGCATGCAT CCCCGCATCTGGC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 NA19043.hp1 HG02486.hp2 HG02559.hp1 NA19043.hp1	a0001 a0001	a0001c0008 a0001c0011 a0001c0008 a0001c0011	a0001c0008t0013 a0001c0011t0008 a0001c0008t0013 a0001c0011t0008	a0001c0008t0013g0270 a0001c0008t0013g0271 a0001c0011t0008g0154 a0001c0008t0013g0270 a0001c0008t0013g0271 a0001c0011t0008g0154	3	272	0.0110	-1562	c.107 others(19): Show c.1073+1490_1074-2383del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	10/27			chr6	TogoVar
TMEM202_chr15_72393305_72413367	72411805	TCCAATAG others(1555): Show TCCAATAGGATAAAATCTAGATAGCACAAGCAACAAAAAGAGAAACTTTG ATTTTTAGATCTATCTAGAGTACTTACAAAAAATCGACCAAATACTATAT AGTTTTAATAAATGTCAAAGGATATATCAGTCCATGGATCCTGACTGTAA TGAAATTAAATTAGAACTCAATAATGAGAGTGATTAAAAAAAAATACTTG GCCAGACATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCAGAG GCAGATGGATCACTTGAGTCCAGGAGTTTGAGATCAGCCTGGCCAACATG GTGAAACCCCATCTCTACTTAAAAAAAGAAAAAATAGATTGGGGAAGTTC TCCTGGATAATATCCTGCAGAGTGTTTTCCAACTTGGTTCCATTCTCCCC GTCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGT CCCATATTTCTTGGAGGCTTTTTTCATTTCTTTTTATTCTTTTTCCTCTA AACTTCTCTTCTCGCTTCATTTCATTCATTTGATCTTCCATCACTGATAC CCTTTCTTCCAGTTGATCAAATCGGCTACTGAGGCTTGTGCATTCGTCAC GTAGTTCTCGTGCCGTGGTTTTCAGCTCCATCAGGTCCTTTAAGGACTTC TCTGCATTGGTTATTCTAGTTAGCCATTCGTCTAATCTTTTTGCAATGTT TTTAACTTCTTTGCTGTGGGTTCGAACTTCCTCTTTTAGCTCGGAGAAGT TTGATTGTCTGAAGCCTTCTTCTCTCAACTCATCAAAGTCATTCTCCGTC CAGCTTTGTTCCGTTGCTGGTGAGGAGCTGCATTCCTTTGGAGGAGGAGA GGCGCTCTGATTTTTAGAATTTTCAGTTTTTCTGCTCTGTTTTTTCCCCA TCTAATGCAATATGGATTAAAGACTTAAATGTTAGACCTAAAACCATAAA AACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCATGGGCA AGGACTTCATGTCTAAAACGCCAAAAGCAATGGCAACAAAAGCCAAAATT GACAAATGGGATCTAATTAAACTAAAGAGCTCCTTCACAGCAAAAGAAAC TACCATCAGAGTGAACAGGGAACCTACAGAATGGGAGAAAATTTTTGCAA TCTACCCATCTGACAAAGGGCTAATATCCAGAATCCGCAAAGAACTCAAA CAAATTTACAAGAAAAAATCAAACAAACCCATCAAAAAGTGGGCGAAGGA TATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAGACACA TGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACC ACAACGAGATACCATCTCACACCAGTTAGAATGACAATCATTAAAAAGTC AGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTAC ACTGTTGGTGGGATTGTAAACTATTTCAACCATTGTGGAAGTCAGTGTGG CGATTCCTCAGGGATGTAGAACTAGAAATACCATTTGACCCAGCCATCCC ATTACTGGGTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	396	0.0025	-1562	c.39 others(11): Show c.3913_*5474del	TMEM202	ENSG00000187806.9	transcript	ENST00000341689.4	protein_coding		3439		chr15	TogoVar
ASMT_chrX_1610059_1648081	1636939	GCTCTCCT others(1554): Show GCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCAC AGCCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCAT CCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA AGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCAC GAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTC CTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTC TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTC CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGACAG TGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGACGT GGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGG TCCACCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTG AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGA TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC CATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTC ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG CTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACA GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA TCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCAT GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT CTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGC CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATC CATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGG GGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGA GGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCT CCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCT CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCT CCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA CCATGTCCCAGC	G G	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0030 a0001c0003t0001g0030	1	223	0.0045	-1561	c.910 others(16): Show c.910+380_910+1940del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8			chrX	TogoVar
LITAF_chr16_11542722_11591919	11589877	GCCTCCCA others(1554): Show GCCTCCCAAAGTGCTGGGATTACAGGTGTGAGGCACCACACCCAGCCAGT TGCATTTCTATATACTAGCAATGAGCAATCCAAAAATGAAATTAAGAAAA TGGCTCCATTTACAATAGCCTCAAAAGGATAGAAGCTGGGTATGGTGGCA CACACCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGAAGGATCCCCTT GAGCATGAGAGTTTGAATCTAGCCTGGGCAACATAGCGAGACCCCATCTC TAAAAAAAAAAAAAAGAGAGAGAGAGAATGTAATACTTAGGAAAACGCTT AACTAAGGAAGTTCAAACAAGACCTATACACTGAAAACTACAAAACATTG CTGAAAGAAATTAAAGAAAACTAAATAAATGGAAAGACATTCATGGACCA GAAGATTTAATATAGTTAAAGTGGTATATCAGTCAGAAATCTTTCAAAGA AAGAGAGAGGAGATATATACATATATAGATGGTACCAGACTTAATGATGG TTCAATTATGATTTTTTGACTTTATGATGGTGATACACATTCAAAAGAAA CCGTACTTCAAGTACCCTTACAACCATTCTGTTTTTAACTTTTAGTATAG TATTCAGTAAATTACATGAGATATTCAATACTTTGTGATAAAGTATTGAA TTAAGTAAAGGAGACCGTCTCCTTTACCTGAAGTCAACTAAAATAAACCA CATCTGCAAAATACTTTTACAGCAACATCTAGATTGGTGTTTAATTGAAT AACTGGGTACTATAGGCTAGCCACGTTGATGTGTAAAAGTAATGATCACA AATGGCAATACTTCCCAAACTGATGTACGGGTCCAATGTAATCTCTGTTT TTGTTGTTGTTGTTTTGTGTTTTTGAGATAGAGTCTCGTTCTGTTGCCCA GGCTGGAGTGCAGTGGTACGATCTCGGCTCACCGCAAACTCTGCCTCCTG GTTTCAAGCGATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTACAGG TGTGCACCACCAAGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGAGT TTCATCGTGTTGGCCAGGCTGGTCTCGAACTCCTGGACTCAAGTGATCCA CCTGCCTCGGCCTTCCAAATTGCTGGGCTTTCAAGTGTGAGCCACCGTGC CCGGCCCAGGTCCAATGTAATCTCTATCAAAATTCCAGCTGCCTTTTTTG GCAAAAATAGACAAGCTGATCCTAAAATTAATATGGAATTACAAGGGATT TCAAATAGCCAAAACAATCTTGAAAAATAACAAAGTTGGAGGATCCACTG TTTCTGTTTTTTACACTTTGTTTTTGAGACAGAGTCTTATTCTGTTGCCC ATTCTGGGATGTAGTAGTGCCATCATAGCTCACTGCAGCCTCAAACTCCT GGGCTCAAGCGATCCCTCCCACCTCAGCCTCCAGAGTGGCTGGGACTACA GGTGCGCACCACCATGCCTAGCTAATTTTTAAATTTTTTGTATAGATGTG GTCTCACTATGTTGCCCAGGCTGGTATTGAACTCCTGGGCTCAAGTAGTC CTCCCACCTCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp1 others(188): Show HG00099.hp1 HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19003.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19064.hp2 NA19070.hp1 NA19074.hp2 NA19076.hp1 NA19079.hp2 NA19081.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0003t0002 a0001c0004t0014 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0021 others(184): Show a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0248 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0277 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0001g0349 a0001c0001t0001g0352 a0001c0001t0001g0356 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0392 a0001c0001t0002g0004 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0103 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0165 a0001c0001t0002g0170 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0002g0329 a0001c0001t0002g0338 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0360 a0001c0001t0002g0363 a0001c0001t0002g0382 a0001c0001t0002g0386 a0001c0001t0003g0050 a0001c0001t0003g0058 a0001c0001t0003g0066 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0115 a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0155 a0001c0001t0003g0159 a0001c0001t0003g0169 a0001c0001t0003g0173 a0001c0001t0003g0273 a0001c0001t0003g0282 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0351 a0001c0001t0003g0353 a0001c0001t0003g0365 a0001c0001t0003g0383 a0001c0001t0003g0387 a0001c0001t0004g0003 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0100 a0001c0001t0005g0088 a0001c0001t0005g0098 a0001c0001t0005g0153 a0001c0001t0005g0280 a0001c0001t0005g0328 a0001c0001t0006g0060 a0001c0001t0006g0334 a0001c0001t0006g0359 a0001c0001t0007g0072 a0001c0001t0007g0096 a0001c0001t0007g0117 a0001c0001t0007g0281 a0001c0001t0007g0283 a0001c0001t0007g0284 a0001c0001t0008g0083 a0001c0001t0008g0393 a0001c0001t0008g0394 a0001c0001t0009g0158 a0001c0001t0010g0061 a0001c0001t0010g0070 a0001c0001t0013g0104 a0001c0001t0013g0142 a0001c0001t0013g0346 a0001c0001t0016g0118 a0001c0001t0017g0354 a0001c0001t0018g0062 a0001c0001t0018g0116 a0001c0001t0023g0347 a0001c0001t0024g0333 a0001c0001t0025g0184 a0001c0001t0027g0161 a0001c0001t0030g0114 a0001c0001t0031g0063 a0001c0001t0034g0361 a0001c0001t0036g0340 a0001c0001t0037g0395 a0001c0003t0002g0005 a0001c0003t0002g0164 a0001c0004t0014g0068 a0002c0002t0001g0105 a0002c0002t0001g0166 a0002c0002t0001g0183 a0002c0002t0002g0067 a0002c0002t0002g0132 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0287 a0002c0002t0002g0355 a0002c0002t0003g0059 a0002c0002t0003g0111 a0002c0002t0003g0112 a0002c0002t0005g0113 a0002c0002t0006g0093	191	412	0.4636	-1561	c.-45 others(11): Show c.-4558_-2998del	LITAF	ENSG00000189067.14	transcript	ENST00000622633.5	protein_coding		2959		chr16	TogoVar
TRIOBP_chr22_37692048_37781556	37730948	AAAAAAAA others(1554): Show AAAAAAAAAAAAAAAAAAAAGTTACAAACAGCCTGCCCAGGGAGCCCTCA AGCTCAGAAACACTTCCTCCAGGGAACTTTGGTTCCTCTCCGAACCAGCT GCCAATAACTGCTAACAACTAACATTATTGTGCTTTATGGCTCTGATTCT AATGACATTGGCAAAAGACATGAAACAACAAAAAACTCCAACCCCATACT TTTTTTTTGAGACAGGATCTTGCTCTTTCACCCAGGCTGGAATGCAGTGG CATGATCATGGCTCACTGCAGCCTCAACCTCCCAGGCTGAAGCGATCCTC CCACCTCAGCTTCCCAAGTAGCTGGGACTACAGCCACGTACCACCATGCT CGGCTCATTAAAAAAATTTTTTTTTCCTAGAACAAGGTCTCATTCTGTTG CCAGGGCTGTCTCAAACTCCTCGACTCAAGTGATCCTCTGACCTCAGCCT CCCCAAGTGCTGGAATTACAGGTGTAAAGACACTGTACCTGGCCTCCCAA CCCCATATATATATATATATATTTTTTGAGACAGGGTCTCACTATGTCAC CCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCACCTC CTGGGGTCAAGCGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTAC AGGCACGTGCCACCACGCCTGGCTAAGTTTTGTATTTTTAGTAGAGATTG GGTTTCACTATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAAGTGAT CCACCCACCTCAGCCTCCCAAAGTGCTGTGATTAGAGGCATGAGCCACCA CACCTGGGCTAATTTTTGTATTTTTAGAGACTAGGTTTCACTATGTTGTC TAGGCTGGTCTTGAACTCCTGAGCTCAAGCCATCCGCCTGCCTCAGCCTC CCAAAGTTCTGGGATTACAGGCGTGACCCATTGCGCCCTGCCCAATCCCA TACTTTTGAAGGTGTCGTTCCAGCATGGCTCCTCAGGCACAGGCCCACCA CAGACAGCAGGGCCTATGGAGGCCTGAGCAGAGTTTCCTCATACTTCCCT TTTTGCTGCCTCACTCTGGGTCCACCACAGGGTGGCCTTTTTCAGGCTTC TCTTCCTGGTTCAGTTCATCGACCAAAGACATGGCTCCATTTGCTAACTG AGACCCAACCAAAATAAACATTCATGGAGTGGTTGGGCCTTTTGTTGTGA CCCCTTAGGTAGAGGAAGGGAGAGATATGCCCAGGTTCTGTTTGGTGTTT CTACCTGTCAATAGAGATACCACGTTAATCATTAACAGCCATGCCTCCCA GTTAGTAAGCAAGACAACTAACTGGAACTAGACTTTTTACACAAGTTAGA GATGATCTTCATCGGATGCGTCAACAATGCCTGAAGCCCAGTGTCTTAGA AACAACACTTGCCCAGGGTCAGGCGTGGTGGCTCATGCCTGTAATCCCAG CTACTTGGGAGATTAAGGCAGAGAATCACTTGAACCCGGGAGATGGAAGT TGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCG AGACTCCATCTC	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0039 a0039	a0039c0037 a0039c0037	a0039c0037t0001 a0039c0037t0001	a0039c0037t0001g0059 a0039c0037t0001g0059	1	322	0.0031	-1561	c.394 others(18): Show c.3948-2330_3948-770del	TRIOBP	ENSG00000100106.22	transcript	ENST00000644935.1	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
ASMT_chrX_1610059_1648081	1636931	GTGTCCCA others(1553): Show GTGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGAT GTGGGCACAGCCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTGTG AGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT GTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGA TGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTC CCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGAC ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATGAT GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGCTTCAC GAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTC CTGTGAGGTCCACCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTC TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT GTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT GAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGA TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG TCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTG GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA GGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTG TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATG GTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC CCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGA CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT CCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGA GATAGGGACCA	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02615.hp1 HG01975.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0134 a0001c0003t0001g0062 a0001c0001t0002g0134 a0001c0003t0001g0062	2	223	0.0090	-1560	c.910 others(16): Show c.910+444_910+2003del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAM240A_chr3_46607525_46631543	46613208	CACAGGCT others(1553): Show CACAGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTTGAAGA CCAAGGCCGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCA ACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCCGGCGTG GTAGCAGGCACCTGTAATCCCAGATACTGGGGAGGCTGAAGCAGGAGAAT CACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTG CAATCCAGCCTGGGTGACAGAGTGAAACTCCTTCTAAATAAATAAATAAA TAAATAAATAAATAAATAAAAAACAAGACACAGAACATTTCCATTACCCT AAAAAGTGCCCCCATGCTCCTTTGCCCTCAGTCCCCTCCCCCAACTCGAC CTCAGCCAATCCCCAATCTGTTTCTGCAACTCTTTGTTCTGCAAGATTTC CACTGCAGGTCTCTGCACAGGTCACTTCCTGCACCCTGGGTGCTCCTGCC CGCTCATCCTGCAAGTCCCTCCCCCTAGAAGGAGCCCCAAACCCTCGGCC AGGTCAGGGCACCCTCCTTGTGTGTCCCATTTCAGTGCCTATCACGTGAA GTGCCAGTGCCTCACTCCCTGTTATCTGAAGTCCCCTGAGGAGGGGCCCT GTCTTATCCCAGTGTCAGCCGTTTAGAGTGAAGAAGGATGGGGTATTAGA TATTTGTTTGTTTGTTTGTTTGTTTGTTTGAGACAGGGTCTCGCTTTGTC CCCCAGGCTGGAGTGCAGTGGTACAAACATGGCTCACTTTAGCCTTGACC TCTTGGGCTCAAGCAATCTTTCTACCTCAGCCTCCTGAGTAGCTGGGACC ACAGGCACGTAGCACTACGCCCAGCTAATTTTTTATTTTTTATTTTTATA GAGACAGGATCTCTGTATGTTGCCCAGCCTGGTCTCAAACTACTGGGATC AAGTGATCCTCCAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGA GCCACTGCACCCGGCCTAAATATATTTAATCCCCTCTTTCTGCCTTATCT TTTCCTAAAAGTGTATTTCTAAAGTTATCATTAATTGTGTTTCTTTGAAG CTACAAAATTGGTGATAGTAGCCACTACAGTTCTGCTCATAGTGAGGACA ATGACTAAAACAAGTTAAGAAGACAAGGTAGTTTGTTTAAAAGTGAAATG CATTTTTTCTTAGAGATTTTACTTGTTTTCACCATTGTGTCAGCAGCATT TTCCAGCAAAACATACACACACAGCTGGTTAGTTTGTAAAATAACGTTAT GCGGATGGAGGTAGAGATGGATGTCACTCTTCAACCCAAAGGGAGCTCTG CTATTTCTTAGAAAAACATGTATCTCCCATTTTACACATGTGGGACACCT CCCAGTGAGTGGGCATGGTGAGGCTTATCTCTGACGTATCAGAAGTGAAA GAACACAGGACAAACGCTCTTACCCAGTGCTCCTCTGGGCATGGCCCTAC ATAGGACATGGTTCAACTTAAGAACTTCTACTGTCATCCAAGCTTTCCTA AATGGTGGCCA	C C	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	438	0.0023	-1560	c.15+ others(14): Show c.15+515_15+2074del	FAM240A	ENSG00000283473.5	transcript	ENST00000640551.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
LITAF_chr16_11542722_11591919	11589906	GAGGCACC others(1553): Show GAGGCACCACACCCAGCCAGTTGCATTTCTATATACTAGCAATGAGCAAT CCAAAAATGAAATTAAGAAAATGGCTCCATTTACAATAGCCTCAAAAGGA TAGAAGCTGGGTATGGTGGCACACACCTGTAGTCCCAGCTACTCAAGAGG CTGAGGCAGAAGGATCCCCTTGAGCATGAGAGTTTGAATCTAGCCTGGGC AACATAGCGAGACCCCATCTCTAAAAAAAAAAAAAAGAGAGAGAGAGAAT GTAATACTTAGGAAAACGCTTAACTAAGGAAGTTCAAACAAGACCTATAC ACTGAAAACTACAAAACATTGCTGAAAGAAATTAAAGAAAACTAAATAAA TGGAAAGACATTCATGGACCAGAAGATTTAATATAGTTAAAGTGGTATAT CAGTCAGAAATCTTTCAAAGAAAGAGAGAGGAGATATATACATATATAGA TGGTACCAGACTTAATGATGGTTCAATTATGATTTTTTGACTTTATGATG GTGATACACATTCAAAAGAAACCGTACTTCAAGTACCCTTACAACCATTC TGTTTTTAACTTTTAGTATAGTATTCAGTAAATTACATGAGATATTCAAT ACTTTGTGATAAAGTATTGAATTAAGTAAAGGAGACCGTCTCCTTTACCT GAAGTCAACTAAAATAAACCACATCTGCAAAATACTTTTACAGCAACATC TAGATTGGTGTTTAATTGAATAACTGGGTACTATAGGCTAGCCACGTTGA TGTGTAAAAGTAATGATCACAAATGGCAATACTTCCCAAACTGATGTACG GGTCCAATGTAATCTCTGTTTTTGTTGTTGTTGTTTTGTGTTTTTGAGAT AGAGTCTCGTTCTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCT CACCGCAAACTCTGCCTCCTGGTTTCAAGCGATTCTCCTGCCTCAGCCTC TCGAGTAGCTGGGACTACAGGTGTGCACCACCAAGCCTGGCTAATTTTTG TATTTTTAGTAGAGACAGAGTTTCATCGTGTTGGCCAGGCTGGTCTCGAA CTCCTGGACTCAAGTGATCCACCTGCCTCGGCCTTCCAAATTGCTGGGCT TTCAAGTGTGAGCCACCGTGCCCGGCCCAGGTCCAATGTAATCTCTATCA AAATTCCAGCTGCCTTTTTTGGCAAAAATAGACAAGCTGATCCTAAAATT AATATGGAATTACAAGGGATTTCAAATAGCCAAAACAATCTTGAAAAATA ACAAAGTTGGAGGATCCACTGTTTCTGTTTTTTACACTTTGTTTTTGAGA CAGAGTCTTATTCTGTTGCCCATTCTGGGATGTAGTAGTGCCATCATAGC TCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCCTCCCACCTCAGCC TCCAGAGTGGCTGGGACTACAGGTGCGCACCACCATGCCTAGCTAATTTT TAAATTTTTTGTATAGATGTGGTCTCACTATGTTGCCCAGGCTGGTATTG AACTCCTGGGCTCAAGTAGTCCTCCCACCTCCACCTCCCAAAGTGCTGGG ATTACAGGTAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0362 a0001c0001t0001g0362	1	412	0.0024	-1560	c.-45 others(11): Show c.-4586_-3027del	LITAF	ENSG00000189067.14	transcript	ENST00000622633.5	protein_coding		2988		chr16	TogoVar
POTEI_chr2_130454455_130514328	130497073	AATAATCT others(1553): Show AATAATCTGTTCCTAAACTTTATGACTAAAATTATCTTGGAATCCCAAAT AAAACCCAATGCGTATTTTGTTCATAGGTTCTAATATGCAAATGTTGTAG TTTTCAGAAAATGTTATTAAGTCCTAATTTTGCTTCTTAGTTGTCCTACT CTTTATGGCTTATAATTCAGGGCATCTCAACTATGTCATAGTTTATAACT AAATTTATTCATAAATATCTCATTAAAGTAGATAATGTGATTGTCCACTA TTACGGAGTTGATCAATCACACCAAGGGCAGAAAAACCAATGGATGTTAA GACCTGACTTGGACCAACGATCCTTCTCTACAGACTCAAACTCTCAGCCA GTAGATGTCTGTTAGGATAATGCTTTATATTGATGTTCAATTCCAGCTGA CATGGGAGACCAAAAGTCTACTTTTATTTATTTTAGTTTCCACGGAGAAG TAGCAAGCTGACATTCTGTAATTTTCGACATACATACTAACAATATATTT TGCACCGAACATGTTATTCAGGTCTAAGTCATCTCATAGACCATCTTACA TGACTATTTTTGCAGCAGAAATCACAATTTCAATATTTGGGTGGCACCCA TTTTGCTTTGATTCACACTATTTCCTCAGAGCTAGTCAGCAAATAGTCAA ATGACCTTCCAGTGACTGCACAAAATATGGAATGCTTCAAAGATCTGTGC TGCCTCCTTATGCAGAAGCCACGCTAACTTTCCCCGTATTGTTCCAATTT TAGGATATGTGCCGCCGAAGCAAGCACAAAGCCCTACTTTTACACATGAT TAGTGATGCGTCATGGACAAGGCTTGGCTCTGTGAAGTCCAACTAACCTA CTTGAGATTCTGAGAATTCTCTTCAATGGCTTCCTGTGAGCTAGAGTTTG AAAATATTTTAAAATCTTGAGCTAGAGATGGAAGTAGCTTCCACGATTTT CATTATCATGTAAATCAGATCACTCAAGGGGCCAACCACAGCTGGGAGCC ACTGCTCAGGGGAAGGTTCATATGGGACTTTCTACTGCCCAAGGTTCTAT ACAGGATATAAAGGTGCCTCACAGTACAGATCTGGTAGCAAAGAAGAAGA AACAAACACTGATCTCTTTCTGCCACATTATTTGAACCCCTCTCACCCTT TAGAACAAGCCCACCTAATATCTGCTAGAGAAAAGACCAACAACAGCCTC AAAGGATCTCTTACCATGAAGGTCTCAGCTAATTCCTGGCTAAGATGTGG GTTCCACATTAGGTTCTGAATATGTGGGGAAGGGTCAATTTGGTCACTTT GTGTGCGGATAAAGTCAAGATGCCCAGCGGCCAGAGCAGGGGGCTGGTGC TCTGGGAACAATGGCTGAGCATATAAGCATAGGTATGGGAATTAAAAAAC ATCAAAGTCACTGTATGAATCGCCATGAAGACTTGAGGGATCTGAATCTA CTGATTCATCTTAAGGCAGCAGGACCAGTTTGAGTGGCCACAAAGCAGCA ACAGAATCAACGGAAACAACAGAATGATTGCAATGTCTTTTTTCCTCCTC CTTCTGACTTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	125	0.0080	-1560	c.105 others(17): Show c.1055+451_1056-452del	POTEI	ENSG00000196834.14	transcript	ENST00000451531.7	protein_coding	5/14			chr2	TogoVar
RNF223_chr1_1065967_1079306	1076807	CGGGGACT others(1553): Show CGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTA CGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGGCTA CGGGGACTCCGTGCGGGGAGGCTGAGTCTACGGGGACTCCGTGAGGGGTG GCTGAGTCTATGGGGACTCCGTGCGGGGAGGCTGAGTCTATGGGGACTCC GTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTA TGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAG GCTGAGTCTATGGGGACTCTGTGCCGGGAGGCTGAGGCTACGGGGACTCC GTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTA CGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAG GCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCC GTGGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTA TGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAG GCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCC GTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTA TGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGCTGAGGCTA CGGGGACTCCGTTGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTA TGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAG GCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCC GTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGACGCTGAGGCTA TGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAG GCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCC GTGGGGGGAGGCTGCGTCTATGGGGACTCCGTGAGGGGTGGCTGAGGCTA TGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAG GCTGAGGCTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01952.hp2 HG01978.hp1 others(3): Show HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02148.hp2 HG03669.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0001 a0001c0001t0001 a0006c0006t0001	a0001c0001t0001g0001 a0006c0006t0001g0019 a0001c0001t0001g0001 a0006c0006t0001g0019	6	324	0.0185	-1560	c.-43 others(11): Show c.-4361_-2802del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2502		chr1	TogoVar
FUNDC1_chrX_44518639_44547859	44520541	CGGTGGCT others(1552): Show CGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGG ATCACGAGGTCAGGCAATCGAGACCATCCTGGCTAACACAGTGAAACCCC GTCTCTACTAAAAATATAAACTTCCTATCTATTCTTTATGTTGATTTTTC TATAATGAACATATTTTATTCATATGATATTTGAAATGAGAAAACAAATT AAAAATCATGTATTTTTGTAAGGGGGTCTGGGGAAGATTATAATAAAATT AAAAATCAGTCAAAATGTTCCTACATATCTTTCAAAGCCTCAGCCTCAAA ATAGATATACTCCATATACACAAGTTTGTTTGTGTTTGTTTGTTTGTTTT TTTTTGAGACATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAACCTCCGCCTCCTGGATTCAAGCAATTCTTGTGCCT CAGCCTCTCGAGTGGCTGGCATTACAAGCACCCACCACCACTCCCAGCTA ATTTTGGTATCTTTAGTAGAGACGGGTTTTCGCCATGTTGGCCAGGCTGG TTTCGAATTCCTGACCCCAGGTGATCCGCCCACCTCAGACTCCCAAAGTG CTGGGTTTACAGGCATGAGCCACCACGCCCAGCCTCCATATACTCGTTTT AATAAATCTTGCAAACAGCCTTTATGCCTTCAAATATAAACATCTCCATT TTGTCAAAGGCAGGCTATATAAGCTTTTCATTGCAACCAAGCCCCACAAA GTCATTTCTGATGGAGCCTCTGATTCACTGGACACAGAGAAGGAACAGTT TCCTACAGGCTGACAATAAATCTAACACAGTAATATGCTTTTCACATACT TGATCACACATCACAATACTAACTGAATACCTACTGTGAGCAAAGCACTA TGCCACATGCTTTACAAGTGAGAAATTGATTAACACATAAAACTGTTCCA AGTAGACTCCAACCTTGTGGGAGAAAACAGCATAGATACGAGACAGAACA AGAAGCACTAACAGAGATGGGACAGTATGGAGAGTACTGGTAATATTCTA TACTTGCACACAAATATTTTCAAATATCATGACAGATACTTAGAAATGTA TAGGTAAAAATGAAGTGCTACCTTTTTCAGTTTTCATTCATATGTTCAAG CTCTCAAATTAGTTATCCCTACTACTCATTTGCCACTAAGTCATATGCCA AGTTCTCCTATATTACTATACAACTTTTAATATAGGAATATTTATGTCTA TTCAATTGAAAGCTCAAGGGCAGACATTTTTGTGCCCCCCACATTCTTAG TACATCATGCACAGGACACTATATTTTCAGAAATGAACAAAATGATCCAG CAACTAGAGCTCTCCACAGCAGCCTGCCTCACTGTATCAGATAAGAGCAT CGTGCATGTGTGGCACACAGAAGTGCGGCCAAGGCTTTACCTAATGTGAC CTGATCACACTCATGAATATCCGTCACTTTTAATTCCACAGCAACGAAAA GCTTGGCAAAGCAGAAACAAATAAGAGCACAAAGAAAAAACAAGTATTTT GGCCAGGCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01433.hp1 HG04115.hp1 HG00738.hp1 HG01433.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171	3	313	0.0096	-1559	c.20 others(11): Show c.2098_*3656del	FUNDC1	ENSG00000069509.6	transcript	ENST00000378045.5	protein_coding		3097		chrX	TogoVar
SAE1_chr19_47125835_47215636	47147305	CAGGGTAT others(1552): Show CAGGGTATTCTCCCACTTAAGCCTCCCAGTAGTTGGGACTACAGGTGCAC GCCACCACACCTGGCTAATTTTTTGTATTTTTTGTAGAGACTGGGTTTCA TGATTGTTGCTCAGGCTGGTCTTGAACTTTCTGGGCTCAATTATATGTTT TTTTTGTTTGTTTTTTTGAGATGGAGTCTCACTTGTCGCCCAGGCCGGAG TGCAGTGGTGAGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAG TGATTCTCCTGTCTCAGCCTCCCAAGTAGCTAGGATTACAGGCGTGTGCC ACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCAT GTTGGCTAGGCTGGTCTCGAACTTCTGACCTCAAGTGATCCACCCACCTC AGCCTCCCAAGCTGCTGGGTTTACAGGTGTGAGCCACCGTGCCCAGCCTC AACTGTATTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGG CTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCTGCCTCCCGGG TTCACACCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCG CCCACCACCACGCCTGGCTAATTTTTTTGTATTTTTTAGTAGAGATGGGG TTTCACCGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGC CTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCG TGGCCCTCAACTGTACGTTTTTATCCATGTCCTCGTTTTATATGGGATTC CCACATTCTTGCTGAGGTTCACACAGTTGTTGAGCCAGGATTTGAATCAA AGATTGAATCCAGCCTGAATTATTTCAGAGCCTTACTGTTAACCATTGTG TGGTACAGCTTCTCAGCACATAATGAGATCCCTGAAGAAGCAGGATGGAA TGGGTCAAGGATACAGGGTTAGCCTAGAATGGGAAGTGGGCCAGCTCATT TTCTTGGAGGAGAAGGTAGTAAGATAGAGAGTGTGCTGTGGATGGTTGGT AGGAGGTGTTGAGGGGAGATTACTTCTGTTGTACCTAGTCTTGGTGAAGG TGGCAAGGTTATTTGCAGAGATTAATGGTTAAATTAGATGTTTGATGTGT GAAGAAATACTTTGAGAGCAGTATGGAATCTGTAATCTTACTGGTGGCTA TTAGGGGATTATATTATCCTGTCTTTGAGGCTCTGCTCTGCTGATGTTCA GCCTTAGGGGTGAAATAATTCCTCTGTTCCAGTCCCCACTCATCTCTCCA CCTCTCTGAGTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTG CCCAGGCTGGAGTGCAGTGGCACGACCTGGGCTCAATGCAGCGTCTGCCT CCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTA CAGGCGTGTGCCACCACGTCCGGCTAATTTTGTATTTTTAGTAGAGATGG GGTTTCACCATGTTGGTCAGGCTGGTTTTGAACTCTGGACCTCAGGTGAT CTGCCTGCCT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG03831.hp1 HG01515.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0267 a0001c0001t0001g0128 a0001c0001t0001g0267	2	380	0.0053	-1559	c.211 others(17): Show c.211-2896_211-1338del	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	2/8			chr19	TogoVar
ERC1_chr12_986223_1500931	1089223	GTTGTTGT others(1550): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTA TTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCT GGCCCATTATTATTATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGC AATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGT GCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATT GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTA TTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCT GGCCCATTATTATTATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGC AATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGT GCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATT GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTGTGCCTGGCCCATTAT TATTATTA	G G	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0001 a0001c0001t0117g0001	1	162	0.0062	-1557	c.108 others(19): Show c.1086+5653_1086+7209del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
MERTK_chr2_111893607_112034561	112006207	TAAAAAGG others(1550): Show TAAAAAGGAACCACAATAACCAACAAGTCACATGAACCGGTACTTTTTAA GTAGACCATAATGACTAATATTTATGTAATACTCACTGTTAGCCAAAGGA CATTGCAGTTATTCCTGTATTTCATCAGGACAACAGGAAGAGAAAATGAA CATAACTAAAAAGGAGGTTCAGGAACTAGCCCCCAGAAACTAAAACACCC TGAAGTTAGAATACTCACTGGAGCTGAACCAAGCACTGAGCCATATTCTG CACTGTTCCTGCCTCTTGTATGATTTTATCTGAGCCTCACAGTGCATCTG TGGGGAGTCCTTCCATAATTCCTATTAGGGATATAAGGCAGGTATATTAG GAGGCCTGGTGGGAGGAGCTGGGCCTGGAACCCACTTTTTCTCTGGCTTG ACTCTGCAGTTATTTAATTTCATTAGGGTAAATTGCATAGGGATTACACC CCTGCTAATTGTCAAAGATTGAGAGTATAATCTCTAGCTTCAAAATCCCC AGGCTCAGCTACATTTACCTGCAGGTTGGACCCCTGGGGAATAGTCTGCA GGCAGAGCCCTACCCCTGTATTCCCCCACCTGGTTGTTTGCAGCAAAAGG AATAGGTGAGGGCAAATTTTTGCAGATGTATAGATTTTCTTTTAATTAGA AAAATTTTTAAATTTTTCTAAATTTCCTTCAGTAGAAAGAAGATTAATAT ATATTAAGCCAATAGGATGGTATAGACACTGCATTAGATGCCCTCATGCA TGATTTTAATCAGTAGTTTTACCCTGTTAACGCAAATTCCCTAAGGCAAG CCAGACTTTTTATTTGTTTTTAATTGTGGCAACATATACATAATATAAAA TTTACCATTTTAACCATTTTAAGTGTACAATTCAGTGGTATTAAGAACCA TATTCATAATGTTATACAACCATCACTACCATCCATCTCCAAAACTTTTC TTTTCTTTTTTTCTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAG TGCGGTAGCACGATCTCAGCTCACTGCAAACTCCGCCTCCCGGATTCAGG CCATTCTCTTGCCTCAGCCTCACAAGTAGCTGGAACTACAGGCGCCCGCC ACCACGCCCGCCTAATTTTTTGTATTTTTAGTAGAGACAGGATTTCACCT TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCA GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCCA AGACTTTTCATCTTGCAAAACTGAACCTCTACACCTACCGAACAATGACT CCCCACTACCCTTTCTCCCCAGCCCTGGCAAGCACTATTCTATTTTCTGT CTCTGATTTTGACTCTCTAGGTACTTCATGTAAGTGGAATCATAGAGTAT TCATCCTTTTGTGACAGGCTTGTTTCACTTAGCATAATACAGAATTTTAA ATGTCTCTCTCTTAAGCCAGTTTAATTCAAAAAATTTGGTATGAAAATGC ATCCAACTCACAAGGCGTGGTTGAGCAACCAGACTTGCAGGACATACAAC AATAGAAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp2 HG02145.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0093 a0001c0001t0001g0098	2	288	0.0069	-1557	c.186 others(18): Show c.1868-2175_1868-619del	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	13/18			chr2	TogoVar
SLC16A7_chr12_59591029_59794841	59708609	TTAGCCTA others(1550): Show TTAGCCTAGAGAACACCTAAGATCTGACACATTCATTAGGGCTTAGCAGT CAACCTATTAATCACTACTGTGGGGTCACTGAGTAAGATGGAGCATGTTC AGAGGCCTGGCCTGTGATGTCAGGACTGGAGTCTCTTGTAGTAATTAGTT GGTATCTGGGCTTTGGTAGCAAGGTATTATCTTCCCTTCTGATGTCTGAA TTAAAAATGAAACTAATGAAAGGTTCGCAGGAAGGATGGAAAAGAATGCA AATTATGTTTATACCTTACTTCATCCTTAGAATAATGGCATCACATTACA GCAATCCATCTGGATGTCCATATGTTCTCCTGGAGATCTAGCAAATTTTA GCAAATAGGTCAAACAGTGTGGTCACCCCATTAATAAAGCACTAAGTAGA GGTAGAAAACATAATTTAAACTTTCTACACTGTTTAGAAGGACATAGGGT TTTATTTTGTAAATAGTGATTACATAGGATTATCTTTTAGTGCAATATTT GTTTTTGTATTCTATTGAATGATAATCTATATATGGTTACCTCTACAGTT ACTGGCGACAGATTTGGACTGCCAGTTTCTGTGAGTACTTTATATGACTT TTCTGGTAAAAATCTATTCTGACTTGGAAGAATCAGCCATTCTGGAGAGA AGAATTGGCTTTGTCTCCATGGTAACTTATTTTTCTGTTTTATGTGAATA GTGACGGCCAATTGTGCTAAAGTAAGGGTGATAGTTTTGTGATGAACTAC TTTACATGGGGATTGAACATTAGAACACTGAGCTTATTTTACTGGAGGCC GAGAAGCAAAAGGCTTTAACATAGCAGGTTGGTGGTCATAATGTACAATA TGTATTTTTCTATTCTCTTAAAATTTTAAATAAGCTCAATATATTATTCT ACATTGTGCCCTAATATTTTGCAGAATGAGGGAGGCTATTAAAATAATTC ATGCTGTGCAATATCTTAGCAGCAATAAAAAAAGAAAGTCATTCCATTCC TGTGTTTGAGATAGGTAGAGCTTTCATCTTAGATTTATAAAAAGCAAAAA GTACCAGGTACACTTTGACAGCCCTGTGCAAGTAGGCTGTGGACTTTTTA TATCTATGCCATGTTAGACTCTTTTTTTCATCTGTAGGCATAAATATTAC TAAAGCTTTCTATGAAATATGGTACAGTGTGGCAGAAACTATTATGCTCA CCGTGCATCCATGCACTCCTCTATATTTCCCAGCTTTCCTCCCCTTAGGC TGAGGCCAAGTGACTAGTTCTGACCAATTAAATATAAGCGGAAGGACATC TGTCCCTCTGGACACCTCCTGGACAAGGTGGTTTGATCTGGCATGCATCT TCCCTTTCTCTACAGTTATATAGACTATACTGATCATTACAAACATGAGG GCTTGGTTTATTGTGTAACAACAATATAAGTTATATAAATTATTACATGG GATGAGAACACACTATGAGATAGCCTTAGTCAATTTAGCTTATATTATAT CATGAAATGTACAAGTGCTACTCTATCAGATCTCTGTTAGAGAAGAGGTA TCCTTTGG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp1 HG03453.hp2 HG01109.hp1 HG02572.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0029 a0001c0001t0006g0167 a0001c0001t0006g0204 a0001c0001t0006g0029 a0001c0001t0006g0167 a0001c0001t0006g0204	3	260	0.0115	-1557	c.217 others(17): Show c.217+3679_217+5235del	SLC16A7	ENSG00000118596.12	transcript	ENST00000547379.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
DLGAP2_chr8_732628_1713476	1394867	GGAGTCGT others(1549): Show GGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCTGGAG TCGTGTATTGAGAGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGT GTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCGGAGTCGTGTAT TGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAG TGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCT TACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACT GAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGC GCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTC CCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTC CTCATCCTCCGGGGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCA TCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCACCACCTCCTTGTCCT CTGGAGTCATGTATTGAGAACTTACTGAGCGCTCCCTCCTATGTCCTCCG GAGTCCTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCAGAGT CGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGGGTAGTG TATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATT GAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGT GCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTT ACTGAGTGCCACCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTG AGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCG CTCCCTCGTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCCC CTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCC TCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCAT CCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTTCTC CTGAGTCGTGTATTGAGTGCTTACTGAGCCTCATCCTCCAGGGTAGTGTA TTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGA GTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGC TTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTAC TGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAG CGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCT CCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCACTC CTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTG TCCTCCA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	-1556	c.107 others(21): Show c.107-106483_107-104928del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1236579	CGTGTCTA others(1548): Show CGTGTCTAGTTCTCTCTCACACATAGCGTCATGTCTAGTTCTGTCTCACA CAGTGCATCGTGTCTAGTTCTCTAACATGGCACCGTGTCTAGTTCTGTCA CATGGCGCCGTGTCTAGTTCTCTCACATGGCACCGTGTCTAGTTCTCTGC CACATGGCGCCGTGTCTAGTTCTCTCACATGGCGCCGTGTCTAGTTCTCT CACATGGCGCCGTGTCTAGTTACCTCTCACATGGTGCCTTGTCTAGTTCT CTCTCACACATAGCGTCATGTCTAGTTCTGTCTCACACAGTGCATCGTGT CTAGTTCTCTAACATGGCGCCATGTTTAGTTCTCTCACATGGTGCCGTGT CTAGTTCTCTCACATGGCGCCGTGTCTAGTTCTCTCACATGGTGCCGTGT CTAGTTCTCTCTCACACATAGCGTCATGTCTAGTTCTGTCTCACACAGAG CATCGTGTCTAGTTCTCTCACATGGCACCATGTCTAGTTCTGTCACATGG CGCCGTGTCTAGTTCTCTCACATGGCACCGTGCCTAGTTCTGTCTCACAT GGGGCCGTGTCTAGTTCTCTCACATGGCGCCGTGTCTAGTTCTCTCACAT GGCGCCGTGTGTAGTTCTCTCACGTGGTGCCGTGTCTAGTTCTCTCACAT GGCGCCGTGTCTAGTTCTCTCTCACATGGTGCTATGTCTAGATCTCTCTC ACACATAGCGTCATGTCTAGTTCTGTCTCACACAGAGCATCGTGTCTAGT TCTCTCACATGGTGCCGTGTCTAGTTCTCTCACATGGCGCCGTGTCTGTT TCTCTCACATGGCGCCGTGTCTAGTTACCTATCACATGGTGCCGTGTCTA GTTCTCTCACATGGCGCCGTGTCTAGTTACCTCTCACATGGTGCCGTGTC TAGTTCTCTCTCACACATAGCGTCATGTCTAGTTGTTTCTCACACAGAGC ATCGTGTCTAGTTCTCTCACATGGCGCCGTGTCTAGTTCTCTCACATGGC ACCGTGTCTAGTTCTCTCACATGGCGCCGTGTCTAGTTACGTCTCACATG GTGCCGTGTCTAGTTCTCTCTCACACATAGCGTCATGTCTAGTTCTCTCT CACATGGCACCGTGTCTAGTTCTCTCACATGGTGCCATGTCTAGTTCTCT CACATGGCACCGTGTCTAGTTCTCTCACATGTTGCCGTGTCTACTTCTCT CTCACACATAGCGTCTTGTCTAGTTCTCTCTCACACAGAGCATCGTGTCT AGTTCTCTCACATGGCGCCATGTCTAGTTCTCTCACATGGCGCCGTGTCT AGTTCTCTCACATGGTGCCGTATCTAGTTCTCTCTCACGCATAGCGTCAT GTCTAGTTCTGTCTCACACAGAGCATCGTGTCTAGTTCTCTCACATGGCG CCGTGTCCAGTTCTGTCACATGGCTCCGTGTCTGGTTCTCTCACATGGCG CCGTGTCTAGTTCTCTGCCACATGGCGCCGTGTCTAGTTCTCTCACATGG CGCCGTGTCTAGTTCTCTCACATGGCGCCGTGTCTAGTTACGTCTTACAC GGTGCT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03516.hp1 HG01361.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0023 a0001c0011t0015 a0001c0002t0023 a0001c0011t0015	a0001c0002t0023g0005 a0001c0011t0015g0002 a0001c0002t0023g0005 a0001c0011t0015g0002	2	40	0.0500	-1555	c.74- others(17): Show c.74-22230_74-20676del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZNF516_chr18_76352682_76500242	76393051	CAGGTGGT others(1548): Show CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGG AAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGT CAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAG GTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAG GTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG GAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCG GGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTG GTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGG	C C	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18971.hp2 NA18973.hp1 others(3): Show NA18948.hp1 NA18971.hp2 NA18973.hp1 NA19001.hp1 NA19057.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0016 others(3): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0016 a0001c0001t0043 a0001c0001t0171 a0001c0001t0185	a0001c0001t0003g0257 a0001c0001t0010g0255 a0001c0001t0016g0331 others(3): Show a0001c0001t0003g0257 a0001c0001t0010g0255 a0001c0001t0016g0331 a0001c0001t0043g0329 a0001c0001t0171g0150 a0001c0001t0185g0323	6	346	0.0173	-1555	c.181 others(21): Show c.1811-14303_1811-12749del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF652_chr17_49284206_49367250	49364200	GCTTGTTA others(1547): Show GCTTGTTATAAAATCAAGTTTGGACCCCTTTGCTCTGTTGCTCTCTCATG TACTCTCTTGCCCTCCTGCCTTCTGCTAGGGGATGATGCAGCAAGAAGAC CCACACCAGATGAGGGCGCCTTGATATTGGATTTCCCAGCCTCCAGAACT GTAAGAAATAAATTTCTATTCTTTTTAAATTACCCAGTCTGTGGTATTCT GTTACAGCAACACAAAATAGACTCCAACAAGCACCCCACTCCCGTGACCC AAAATCCTGCAGGGAGTAAGATGACCTGAGTCTGGGACAAGGTTAGGGAA AAGATTGAAACTTTCTAAGCAAAGGGGTCCAAGAGCTGACTCTGTCCTTG TCCCCTTCCAAAAACAGATGCTTGACTTTTATTACATCTGGTCTCTGGAC TCTAGGGATAATTTTGGCAACTTTGGGTCATGTTTTTCAATAATGAGTTT TTTTCAGTGAATAAACACTAAAAACAATACCATATTTCAGCAGGTAGAGA GAAAATCTTCAGGTAGAACAGGAGGAAATAAGCAGAAGTAATAAAAGGAG AGACAGATTCAATGTGAGAAAGACCATGGTATCCATAGGAGCTGGTGAGC CTGGGACATCTCAGTGAGGTCAATGTCTCGCTTTGCCTTTTTAGACATTT GATCCGTTCCCCACCCTCTGCTAGTCAGAGCTATCCAGCTTAGAAGAGGG GTGTGCAGAATGATGGCTAATGAATGAGGTGACTTTCCCAGTGTCTGTGA CTCTCCACCCACAGGCCAACTCTCTGAAGGATTCCTAGTAACTAAGTATG GTTTTTGCAGGGAGGTTATGTCCCTTATCTCTTTTTCTTTCTTTCTTTTT TTTTTTTTTTTTTTTTTTTGAGACGAAGTCTTGCTCTTGTCGTCCAGGCT GGAGTGCAGTAGCGTTATCTCGGCTCACTGAAACCTCCACCTCCTGGGTT CAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGATGCG CACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTG CCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCGCCCG CATCAGCCTCCCAAAGTGCTAGGGTTACAGGCGTGAGCCATCGCATCCGG ACTTATGTCCATTATCTCATCAGATCTTCCAACAACCCTGCAAGGCAGAC AGGATAGATATTATTCCCAATGAAGGAAATTCAGGCCAAGGAATGTTTAA TGGCTCAGGCAAAGTCACCCAGCTCAGTAAACAACGGAGCCAAAGCAGGC CCCAGGCTCCCTGACTCCCAGCCTGCTGGTCTTTCAGAGGCTTTGACAGG CCTGCTCTGAGAATCCGCCATTTATTGCCATGTAGTGAAAACAGGTGCCC TTAGCATGTGATGGAGAATAATTCTAACATTCAGTTCTACTTCTCTATCT CCTTTATTTAATGTTTTTTTCCTTCTTCTTTCTTTCTTTCTCTCCCCAGA AGCCTGGGACTTGCCTCTGTGATCTGGTGCTTTGGAGGGCCTTGGGCCTC AGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0100 a0001c0001t0023g0100	1	382	0.0026	-1554	c.-41 others(11): Show c.-4104_-2551del	ZNF652	ENSG00000198740.9	transcript	ENST00000430262.3	protein_coding		1951		chr17	TogoVar
CASS4_chr20_56407260_56465382	56442005	CCAGAAAA others(1546): Show CCAGAAAATACATTCCAAATGGAAGCGGCTGTTGGTAGACGGGGCAACTC TGAGCCACGGGTTTTGAACTGTTTTCCCATGGCAAATTCACAGGCTTGGA ACACAGCCTTTGTGAGGCACTTCACGGACTCCTTTCTATATCTGTGTTGA CAGTCTGCAGACTAAGAGTGGCCCCAAATTAACATCCGAGAAGGTGGAAA CATGTCATTTTTCTCAAGTTGTCCTAAGAGAGGCGTCTATGTGTCAGAAT CAGACATCTCTATAGCTGGGTGCGATCTCTGCATATCTTTAGATTAGAAC AACTCTTCATTTTACAGATGAGGACATTAATTCCCAGGGAGGTGAAACTG CTCGTGCAGCCACACAGCTGATGAAGTACGACTTCCATCACCCCCCAAAA CACAGCCCTTATTCCTTGATCTTCTTTCACCTGACTCTGTGGCTGACGCT ATTCTTTCTGATGAACACTTTACTGAAATTTCACCTACAGATGCTACGTT ACAGCTCTGTAACTTATATCCAGACCACGAAACAACAAAACTACCACCCC AGAAGCCTCCAGTGCCTTCTCTCTGTCACTTCCCCACTAGGGTAACCACT ATCTTGAGCTTTGTTTTACTTTTTATCCCAACTTCCTTAATATAATGTGC TGGCCTAATTTAAAAAAAAAACCCACCACATCAAGAGCATATTTGATTTC AGTTTAAATTCAGAAGGGACTCTTGTATTTCAAGAGAAAAGGGTCAGATT TCCTGGTGAAACTGCTTTTGGATCCACTAGTTCCTGAACTGGAGTTTCCT TCTGTCTCCCTAAACCTTTCGAAACTGTGTTTCTCAAACATGTTCCTTAA CTGATTGCCATACTGGGCCTACGTTTTCCAAGAAGCACTGGGCATTTTTG AGCTGGCTTCCTTCCATCTGAAATGTCATACACAGGAAAGTCCCTTTGCT CTGTGGAGGTGCCCTTATAGGCAAAGGGGATCCCACAGTCAGCCATCAAA ATAAAATGGGCCTGAAGTCATGGGGAGGAATGGGCCTTGGGACAGCATTT GGAAAGGGTCTGCGGGGGGAGAAAGCTTGGTGTGTTTCTGGGAGGTACCA CTGGCGGTACAGCCAGTGGTCCGGGACACTCACTCAAGGTCCCTGGGTGT GGCGGGTGCATAGCTTGTCAGACCGGGTAAGCAGCTTGGATTTCTGGCCT GGCGCGGTGGCTCACGCCTGTAATCCTTCCACTTTGGGAGGCTGAGGCAG GTGGATCACTTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACGTGGTAC TAAAAATACAAAAAAGTAGCGGGGTGTGGTGGCGGGCACCTGTAATCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAG GTTGCAGTAAGCCGAAATGGCACCACTGCACTCTAGCCTGGGTGACAGAG CGAGACTCCGTCTCCAAAAAAAAAAAGAAGCTTGGATTTCATTCAAAATG CAATGGGAAACCACTGATGGGCTTGTCCACCTAGACCAATCAGCCTGAGA CCAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02922.hp1 HG03195.hp2 others(2): Show HG00741.hp1 HG02922.hp1 HG03195.hp2 HG03486.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0002 a0001c0005t0004 a0002c0003t0001 a0001c0005t0002 a0001c0005t0004 a0002c0003t0001	a0001c0005t0002g0142 a0001c0005t0002g0334 a0001c0005t0004g0190 others(2): Show a0001c0005t0002g0142 a0001c0005t0002g0334 a0001c0005t0004g0190 a0002c0003t0001g0112 a0002c0003t0001g0333	5	376	0.0133	-1553	c.460 others(17): Show c.460-3891_460-2339del	CASS4	ENSG00000087589.17	transcript	ENST00000679887.1	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
UBE3D_chr6_82887390_83070841	83025712	GTCTCTAC others(1546): Show GTCTCTACTAAAAATACAAAAATTAGCTGGGCGCAGTGACTCCCACCTGT AGTCCCAGCTACTCGGGAGGGTGAGGCAGGATAATTGCTTGAAACCAGGA GGCAGATGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGC GACAGAACGTGACTCCATCTTAAAAAAAAAAAAAAAAAAAAAAAGAAAAA TTGTGTATGTATTGTGGCACCATAATTAAACATATAAGAATTTATTTCAA AAAAATACTCACTGGTATATGAAAACACTTATCTATAGTGATACTCATAA TATCAATAGAAAAATACTGAAAACAAATGTCTAAAAATTGAGGATGGGTT AAATATTCAGGCAACATAACTGCATGCATGTTTCAAATTTTAAATAGGTC AAATTCAAACCAGAAATAATTAAAAATGAGGCTGTCATTAAAAATGGTGG TGTTGCCCAGGTACAGTGGCTCATACTTAATCCCAGCACTTTGGAAGGCC AAGGCAGGACGATCACTTCAAGCCCAGGAGTTTGAGACCATTCTGGACAA CAAAGTGACAGCCTGTCTCTACAAAAAATTCTTTTAAAAATTAGCCAGGC AGAGTGGCATGTGCCTGTAGTTCCAGCTACTCGGGAGGCTGAGGCAAGAG GACTGTTTGAGCCCAGAAGTCTGAGGCTTCAATGAACTACTGCGCTCCAG CCTGAGAGACAGAGTAAGATCCCATCTCTTAAAAAATAAAATAAAATAGT GTTGTCAAACAACTTTTAATAAGACAAAGTTATTTTTTGAAAAAGTGTGT AATTGCTCAATATTACACACAGAAAGGTAAAAAAAATAAATGGTTTCATA GATTAATATATAGACAGCCATGACAGATTTACCCATTTATCATTGAAGAT GTGTCAATATTTACTATTTTGAAATCGTTATTACACGCAGGACTAAACTA AACCTTTTTAACTTTATGAAATGCCTATGTATTTATTTATTTACTTATTT AAGACAGGGTCTTGCCCTGTTGCCCAATTAGGGTGCAGTGGTGTGATCAC AGCTCACTGTACCTCGAACCCCTGGGCTTAAGTGATCCTTCCGCATCAGC CTCCTGAGTAGCTAGCACTACAGGCATGCACCACTATGCCCAGTTAATTT TTTGTAGAGACCAGGTTTCACTATGTTGCCTAGGCCGGTCTCAAGGGATC CTCTCATCTCCGCCTCCCAAAGCAGAAGTGACCCTTTTTATTTCATGTGT TGTTAATCTAAAATTTAATTATATTATTTTAATCCCACAAGTATTATTTC TATTGTTTTATAGTTAATATTCATTTAAGTGTTATGTGAATATTCACGAT TTTATCAACCCTTATTGAACTTAGATCTTCTATGTGGGATCATTTTCTTC TACCTGAGTACAGGTACAATTTCTTTTCATAAGAAACCACTATGGGCTGG GCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGG AGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAAC CCCA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0183 a0001c0003t0005g0183	1	186	0.0054	-1553	c.668 others(17): Show c.668-3227_668-1675del	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	5/9			chr6	TogoVar
SPDYE17_chr7_77017306_77037361	77035809	ACCTGTAA others(1545): Show ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGACGGATCACTTGAGG CCAGGAGTTGAAGACCAGCCTGACCAACACGGCAAAACCCCATCTCCGCT AAAAATACAAAAATTAGCCAGGCATGGTGGTGCACACCTGTAATCCTAGC TACTCAGGAGGCTGAGACACAAGAATCGCTTGAACCCGGGAGGCAGAGGT TGCAAGGAGGTGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTG AGGCTCTGCCTTAAAACAAAGAAAAATGATTTTGGGGGATGATGGGGTGT CACTATGTTGACCAGGCTTGTCTCAAACTCCTTGCCTCAAGCAATCCACC CACCTCAGCCTCCCAAGTAGCTGGAACTACAGGCGCATGCCACCACGCCT GGCTAATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTAGAAACAAGGTCTTACTGTGTTGTTTAAGCTGCTCTCAAACTC CTGGGCTCAAGTGATCCTCCCACCTCGGCCTCCCAAAGCATTGGAATTAC AGGTGTGAGCCACCTCACTGAGCCCTCCACCTTTCAGCTGAACGCAGAAA AGTACAATCTTTTAACCCAAAGCGTTCCTCACACTTAGGGTCAGGAAGAG CCCTTCATGCCCTGGAGGCAACTACTAACCCTCTGCTAAACACTCTGACT CTGGGTGTGAGAAACACACCTACTGTGCCCCACATATTTTTCCAAATACA ACTTAATTTAGCCTTCACGACAACCCTGGAGTGAAGGATCATTAACTTTA TTTCATAGATGTGGAAACTGAGACTCAGAGGCAGGAAATGACCTCCTTCT GGAGGCTGCAAATTCTTTGATGCTCCTTTGATCAACAGGTGGGAGCTGGC CAGAGGTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGT GGGAGGATTGACTGAGGCCAGGAGTTTGAAACTAGCCTGGGCAACATAGC AAGACCTCATCTCTACAAAAAATACACAAATTAGCAGGGTGTGGTGGTGC ACACCTGTAGTCGCAGCCACTCGGGAGGCTGAAGTGGTAGCATTGCTTGA GCCCAGGAGGTTGAGGCTGGAGTGAGCCATGATCAAGCCACTGCACTCCA GCCGAGGAGATGGAGATAGACCCTGTCTCAAACAACAACAAAAAAATAGG TGAGGATCAGCCAGGCATGGTGGCTCACGCCTGTAATCCTAGAACTTTGG GAGGCCAAGGTGGGAGGATTGCTTGAGGCCAGGACTTCAAGACCAGCCTG GGCAGCCTAGCAAGATCCCATCCCTTAAAAAAAAGTTTTTAGGCTGGGCA TGGTCACTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCGG GTTGCCTGAGCTGAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAATC CTGTCTCTACTAAAATACAAAAAATTAGCCAGGTGTGGTGTTGGGCACCT ATAATCCCAGGTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAG GAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0029 a0001c0001t0005g0029	2	295	0.0068	-1552	c.-55 others(11): Show c.-5575_-4024del	SPDYE17	ENSG00000186645.11	transcript	ENST00000671986.3	protein_coding		3449		chr7	TogoVar
ZNF652_chr17_49284206_49367250	49302087	ACAAAAAC others(1545): Show ACAAAAACATACAAACAATTAGCCAGGCATGGTGGTGTGCACCTGCAGTC CCAGCTACTGAACAAGCTGAGGTGGGAGAATCACTTCAGCCTGGGAGGCA GAGGTTGCAGTGAGCTGAGATTGCACCACTGCGCTCAAGCCTGAACCACA GAGAGAGATGCTGTGTCAGAACAACAACAACAACGTTATAAAGTATAGAA ATGTAATTTTTTTTTTTTTTGAGGTGGAGACTCACCCTGTCACCCAGGCT GGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTT CAAGTGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACG TACCACCACACCCGGCTAATTTTTTGTATTTTTAGCAGAGACAGGGTTTC ACCATGTTAGCCAGGATGGTTTTGATCTCCTGACCTTGTAATCTGCCCGC CTCGGCCTCCCAAAGTATTGGGATTACAGGCATGAGCCACTGCGCCTGGC CCAGAAATGTAATTATTAACATCAAAATGTATAATCTATTAAGTTTATCT ATGATCTATTAAATAAAAGCAAGTTATGAAAATGTATACATGAGGACGGG TGTGGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCACGC GGATCATTTGAGGTCAGGAGTTCGAGACAGGCTTGGCCAACATGGTGAAA CTCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCACGCAC CTGTAGTCCCAGCTGCTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACCC AGGAGGCAGGGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCT GGGTGATAGAGCAAGACTCCATCTCAAAAAACAAACAAACAAACAAAAAA GCATGCATGGTATTATCTACCTTTTAAAAATATATATACATGGAAAGAAA TACAACAGGCCAGCCACAGTGGCTCACACCTATAATCCCAGCACTTTGGG AGGCTGAGGCAGGGCAGATTGCTTGAGCCAGGAGTTCAAGACCAGCCTGG CCAACATAGTGAGACCCCAAATTTATTAAAAGAAAAAAATACAACAAATG TTACCAGTGATTATCTCTAGGTAATAAGATCATGGGTGATGTTTTATTCT TTACGCTTATCTTTTTTTTTTTGAGACAGGGTCTCATTCTGTCACCCAGG CTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTTCTGGG TTTGAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCA TGCACCACCATACCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGTTTT ACCACATTGGTCAGGCTGGTCTCACACTCCTGACTTCAACTGATCCATCC ACCTTAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCGCCTG GCCATGTAGTTTGTTTTCTAAATTAAATATGATTTACTTGTACAATAAAA TACTTTAAAAGCACATGTTTGATTAACCTCTAAGCTCCCCTGCTCTGTGA CTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0100 a0001c0001t0023g0100	1	382	0.0026	-1552	c.131 others(19): Show c.1310-4715_1310-3164del	ZNF652	ENSG00000198740.9	transcript	ENST00000430262.3	protein_coding	5/5			chr17	TogoVar
CDH19_chr18_66496083_66609090	66552466	TGTTTCAC others(1543): Show TGTTTCACACATGTAATCAATTATTTGAATCCAATGGAAAGCATTCAATA TGTTGCACAAGTGCTGCTAGCGTCTCCCTGTATGTGACTCAGGGGAGAGG GACCTAGGAGTCTTTGTTCCCCATTAACTGTGCCTACTTTGCTTTCAACT TTTCCTCTCAGCCTTTTGACTGAATAAAGGATATGTATTTCTGGATCTTA TGCACTTCAGAACTTATGCTTTCAGTAATTTAATCCATGTTTGTCGTTGT CCATACCAACGCTTCTCCAGCAATGCAAGTAATAGTTTAGCTAACCTGCT CAGTATAGTTAAAAAGTCAGTGTGCAGGGTAGGGGCTGGGGGTGGAAAGA AAACATGGTCACGAAGGCCTGGTATGACCCAGCATGGGTTTGTACTCTAG ACACCTCCCTTTCTTCTCTCTTCTGCATTTCTCCACACTGGTGTTCAGTT ATTCTAAGAGTTTCAACTCTTTCCCACCTCAGGAATTTCCCTAATTTTTC CCATGCCCTGAAATCATCTTCCACTCTCCCTTCCTTGTCTACAGACTCAG CTAAACTTTCTGATTTCCGTGTATTCTGCCTTGACCACACAACATAAAGT CAACCTGACTTGTTTTCTCCCACTGAAACTTTTTGGTTTTACTTCATAAG TACCTACAGTGGAATGTATGTGTGTATTACTATTCATGTTTAATATCTAT CTGTAAGTTCCAAGAAAGAAGAGTCCATTATTATATCTTGTTTTTGTTAC TATTATGTATTGTTTTAAATTTTGCAATTTGTACCTTTATAAATCTAGCA AGTTGTATAACATTTGGTACATATTCAGCCTTTCTAGACCTGAATGTGTG AGGGAATTAAAGTCTAATGTTTTGAGGCATTCATTGCATATAATAAAATA ATTTTTCTTCCATACATTTGAAAAAATAAAGGCCATGTACATTCCTGAGA GAATTAAGAACATAGGTACTCAAATAATATTTTTTAGAATCTGACTCTCT CAAGAAACCCTAATTGAAAAAGGCTGAGACATTCAATATTTGCTGAATGA ATAAATAAGAAATGTTTAAAGATCCAACACAATACTTTAATTCTTTAAGG GTTTTGATATAAGCTGGAAATAGTATTTTCCTTGTATTAAAAACCATAGA ATTTTACTTCTTTGGCACTTCTCACGTTCTTGGGTGATTAGTTATATATA TATATTTTTTCAGTGGAGACTATAATCTTCTAAAGGAAAAAAAATTACAT GGGCCTAATCTTTGTTTAAAACACAAAAATTAATTTTTGTTTAATGAATT AGGGTCATATGATTGTTTAAAGAAAAGAGAAAACTGTGTTCTACTTATTT TATATTCAATTGATTAATGCAGATTGGTAGAGCAATATTACAAAAAGAAT CAAATATTGTATTCATGTAAATCAGAAATCTGTAAAATACAGAATTATTT TTAGGTGAATGTCTCATATCAATGTGTACGCTTAGCCTTATACTCAGACT TAATCTCAGTCATTCTGCAGGGTTATGCAGCTGTATTTCATTGTGGTTTT A	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp1 HG00735.hp1 others(78): Show HG00642.hp2 HG00673.hp1 HG00735.hp1 HG01070.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03834.hp1 HG03927.hp2 HG04199.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18947.hp2 NA18960.hp1 NA19001.hp2 NA19030.hp1 NA19060.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0010 a0015 a0016 a0017	a0001c0001 a0001c0003 a0002c0004 others(7): Show a0001c0001 a0001c0003 a0002c0004 a0004c0006 a0005c0009 a0006c0007 a0010c0020 a0015c0015 a0016c0025 a0017c0013	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(22): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0037 a0001c0003t0002 a0002c0004t0005 a0002c0004t0012 a0002c0004t0028 a0004c0006t0004 a0004c0006t0014 a0005c0009t0011 a0006c0007t0006 a0006c0007t0014 a0006c0007t0029 a0010c0020t0036 a0015c0015t0004 a0016c0025t0002 a0017c0013t0002	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0026 others(77): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0026 a0001c0001t0002g0093 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0133 a0001c0001t0002g0215 a0001c0001t0002g0226 a0001c0001t0002g0254 a0001c0001t0002g0274 a0001c0001t0002g0312 a0001c0001t0004g0040 a0001c0001t0004g0095 a0001c0001t0004g0097 a0001c0001t0004g0104 a0001c0001t0004g0107 a0001c0001t0006g0013 a0001c0001t0006g0073 a0001c0001t0006g0100 a0001c0001t0006g0103 a0001c0001t0006g0105 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0112 a0001c0001t0010g0012 a0001c0001t0010g0015 a0001c0001t0010g0016 a0001c0001t0010g0109 a0001c0001t0010g0139 a0001c0001t0010g0250 a0001c0001t0010g0251 a0001c0001t0011g0014 a0001c0001t0011g0099 a0001c0001t0011g0236 a0001c0001t0011g0347 a0001c0001t0017g0018 a0001c0001t0017g0137 a0001c0001t0017g0182 a0001c0001t0020g0001 a0001c0001t0023g0190 a0001c0001t0024g0003 a0001c0001t0027g0180 a0001c0001t0037g0212 a0001c0003t0002g0008 a0002c0004t0005g0017 a0002c0004t0005g0119 a0002c0004t0005g0128 a0002c0004t0005g0149 a0002c0004t0005g0252 a0002c0004t0005g0275 a0002c0004t0005g0276 a0002c0004t0005g0277 a0002c0004t0005g0278 a0002c0004t0005g0283 a0002c0004t0005g0284 a0002c0004t0005g0285 a0002c0004t0005g0298 a0002c0004t0005g0329 a0002c0004t0012g0238 a0002c0004t0012g0245 a0002c0004t0012g0279 a0002c0004t0012g0282 a0002c0004t0012g0305 a0002c0004t0028g0178 a0004c0006t0004g0024 a0004c0006t0004g0125 a0004c0006t0004g0150 a0004c0006t0014g0235 a0005c0009t0011g0025 a0005c0009t0011g0247 a0005c0009t0011g0248 a0006c0007t0006g0188 a0006c0007t0014g0191 a0006c0007t0029g0187 a0010c0020t0036g0009 a0015c0015t0004g0098 a0016c0025t0002g0096 a0017c0013t0002g0189	81	354	0.2288	-1550	c.610 others(16): Show c.610+389_611-1209del	CDH19	ENSG00000071991.9	transcript	ENST00000262150.7	protein_coding	4/11			chr18	TogoVar
D2HGDH_chr2_241729630_241773811	241765405	CTTGGGGA others(1543): Show CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGATTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA G	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18939.hp1 NA18953.hp1 others(10): Show HG02056.hp2 NA18939.hp1 NA18953.hp1 NA18966.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18993.hp1 NA18994.hp2 NA19007.hp1 NA19010.hp1 NA19063.hp1 NA21309.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0021	a0001c0001 a0002c0002 a0007c0007 others(1): Show a0001c0001 a0002c0002 a0007c0007 a0021c0033	a0001c0001t0004 a0001c0001t0009 a0002c0002t0004 others(2): Show a0001c0001t0004 a0001c0001t0009 a0002c0002t0004 a0007c0007t0004 a0021c0033t0008	a0001c0001t0004g0001 a0001c0001t0004g0157 a0001c0001t0009g0223 others(8): Show a0001c0001t0004g0001 a0001c0001t0004g0157 a0001c0001t0009g0223 a0001c0001t0009g0237 a0001c0001t0009g0238 a0001c0001t0009g0239 a0001c0001t0009g0240 a0001c0001t0009g0289 a0002c0002t0004g0179 a0007c0007t0004g0037 a0021c0033t0008g0323	13	412	0.0316	-1550	c.130 others(18): Show c.1307-2255_1307-706del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241765455	CTTGGGGA others(1543): Show CTTGGGGAGATGGGAGCCCCGGGCTGAGGGATTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA G	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0039 a0002c0002t0039	a0002c0002t0039g0279 a0002c0002t0039g0279	1	412	0.0024	-1550	c.130 others(18): Show c.1307-2224_1307-675del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241765486	TTAGGAAG others(1543): Show TTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGTGA GTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGA G	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01981.hp1 HG01981.hp2 others(1): Show HG00735.hp1 HG01981.hp1 HG01981.hp2 HG03654.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0002 a0012c0036 a0001c0001 a0002c0002 a0012c0036	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0012c0036t0001	a0001c0001t0001g0088 a0001c0001t0003g0246 a0002c0002t0001g0195 others(1): Show a0001c0001t0001g0088 a0001c0001t0003g0246 a0002c0002t0001g0195 a0012c0036t0001g0306	4	412	0.0097	-1550	c.130 others(18): Show c.1307-1904_1307-355del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
NSUN6_chr10_18540561_18656587	18571759	GTTCCATT others(1543): Show GTTCCATTCTCCATTCCATTCCATTCTCCATACCATCCTCCATTCCATTA CACTGCATTCCATTCTCCATTCTATTTTATTCACCACGGCATTCCATTAC ATTTTCCATTCCATTCTATTCTCCATTCCATTCCATATTCTATTCCTTTC TCCATTCCATTCCCCTTTCCATTCCATTCTCCATTCCATTCCATTTTCTA TTCCACTCCATTCACCACTGCATTCCATTCCAGTCTCCATTCCATTCCAT TCTCCATTGCATTTCATTCTCCACTGCATTCCTTTCCATTCCATTTCCCA CTGAATTCCATTCTCCATTCCATTCCCTTCTATTCTCCATTTCATTTCAC TCTCCCTTCCAGTTCAATCTCCATTCCCTTCCATTCTCCATTCCACTCCA CATTCCCTTCCATTCTCCATTCCATTCTATTGTCTATTCCATTCCATTTC AATTCATTGTTCACTCCATTCCCTTCCCCATTGCATTGTCCATTCCATCC CATTCTCCATTCCATTCCCTTCCATTCTCCATTTCATTCCACTCTCCCTT CCAGTTCAATCTCCATTCCATTCCATTCTCCATTCCAATCCACATTCCAT TCCATTCTCCATTCCATTCCATTTTCTATTCCATTCCATTCCAATCCATT GTCCATTCTATTCCATTCCCCATTCCATTGTCCATTCCATTCCCCATTCT GTTCTATTCCCAATTAAATTCCCCATTCCATTCCACTCCCCATTCCATTC TGCATTCCATCTCCATTCCCTATTCCATTCCATTTTCCATTCCATTCCAT TCTCCATTCCTTTCCTTTTATTCTATTTCAACTCCATTCCATTCTCCATT TCATTCCATTCTCCTTTCCATTCTATTCTATTCTCCATTCCATTCTTCAT TCCATTCCATTCTCCATTCTCTTCCATTCTCCTTCCATTCTCCATTCCAT TCCCTTCTCCATTCCATTCCACATCCTCCTTTCAATTTCATTCTCCATTC CATTCCCCATTCCATTTCAAACTCCATTCCATTCCATTCCATACTCCATT CCCTTCCATCCTCCATTCCATTCTCCATTCCATTCCATTCCTTTCTGCAT TTCATTCCATTCCTTTCTCCATTTCATTCCATTCTCCATTCCATTTTCCA TTCCATTCCATCCTCCATTCCATTCCATTCCTTTCTCCATTCCATTCCAT TCTCCATTCCATTTCATTCTCCATTCCTTTCTCTATTCCATTCCATTCCA TTCTCCACTGTATTCCATTCTTCATTCCATTCCATTCTCCATTCTCTTCT CCATTCCATTCCATTCTCCGTTCCACTCCATTCCATTCCATCCTCCGTTA CACTCCATTCCATTCCATCGTCCATTCCGTTCCACTCTCCATTTCATTCC ATTCCATTCCACTGTCCATTCCACTGCATTCTCCATTCCACTCCATTCTC CACTCCATTGCATGCTCCGTTTCATTTCATTCTCCATTCCATTTTCCATT GTCCATTGCATTCCATTCTGCATACTCCATCCCATTCCATTCTCCATTCC A	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0293 a0001c0001t0011g0293	1	346	0.0029	-1550	c.922 others(19): Show c.922+12640_922+14189del	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	8/10			chr10	TogoVar
D2HGDH_chr2_241729630_241773811	241765445	GGGGGGAG others(1542): Show GGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGATTAGGAAGA GGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGA GGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA GGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA	G G	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0026 a0007c0007t0026	a0007c0007t0026g0046 a0007c0007t0026g0046	1	412	0.0024	-1549	c.130 others(18): Show c.1307-2259_1307-711del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
HLA-A_chr6_29937532_29950870	29949322	AGTGCTGC others(1541): Show AGTGCTGCCAGGCACACAGAGTCATGGACAGGACTCTACAGGCACAATTC AGTACCAGCTTGGATGAAACCCTCTGAGGAATGGGTGCCATCTTTCAGGA TGTGATGCATGTATTGAATCAAAGACGTCTCTAAGGCACTGTTTTCAGAA GGAAGAATACGCGGGTCCAAAAACCAAGAAGTCAAAGCAGGTGTGTCTCA TTCCTTATATTCACCCCCAGGGTGATTTACTTATAAGTAAATAAATACAT AACATGAATACTTAAATAAATTTATTTATGCATGTATGTATGTATGTATT TATTTTATTCATTATATTCACCCCCAGGGTGATTTTGCTCTTCTTACTTC CAAAATCTGGACTCTGCAGGGTAGGAGGTCCTGGTTTCCCAAAGAGGGCA CCCTGGCAAGGAGACAAATGAGAGTCCATGGAACTACACATTGTGGTTGC ACCCAGGGATATTTGAATAGTATGTGCCCAGAGACAAGCAGGTGAGAAGA GGAGGAGGCAGCGCTGCTATCACACAATGAGGGCAGGAGAAGTGTGTGTG GAAACCAGGAATCCACTTGGGGACGTCCTGGTTTCCCTTGTCCGTTGTGT GAGCGGAATCATCCAGCAACCCAGCCTGAGAGGGTTTGATATTCAAGAGC CCAGAACCCTCAGGAAGGAAGGATTGAGTGATACTCCTAGGTAATGTCCC ACGTCTCTGCTTCTGTGCTCTGACATCCTCAGCAGGATTAGTGCAGAAGC CCTGCTTCCATGAGTTGTTCCCAGCCAGTGACCGGTCACAGCAAGCACAC TAAGGCAGGCCATTACTGGGAGACATGGGACTCCTCTGATGGCCAAATGT GGCTCCAGGACTCCTCCATGCCCTTCCTCAACTCTCCTTAGACTGCCTCT GCTCTAGGATGCGTCGAACAGACCTTGTCTCCTTCTGTCCAGCACTTGGG GTCACACTTGCATCATTGTCTGCCGCCTTTTCCAGGGATTTCTGGCTCGC GTCTCATATTCCCTTACAGGTGTGTCCCCTCATAAGATGCCGTAGACTTT AAGCTCATCTTGGCATCTGCTCCTTGGAGGACTTGGACTAAAAAGCATTG CCATGTGCACACCAATAACTCTTACTTATTCCAACCTGTAAAATCCATCT CTTTAACCAACTTCTGCCACCCCCATAAAATCTATTTTGCGCGCGTTCGT AGTATCTCTTTGAATTAACAGATATTTGTTGTATTAAGCCACTAAATTTT GAGGTAGTTTGTGACACAGCAGTTAATAACTATTAAGGCTTTCTTAAGTT TCTGTTATTCCATGGATGTTATCTACATCTTTTAATTTCCTGCATTTTAA TAATATTAGCCACACTTGCTGTTTCTAATCCTTTCCTCCTATTCTTTTTT GAAAATGTTCATTTTGTCTTTCTCTGTCCTTCCATCTTTCTTTCCTCCTT TCCTCCCTCAGAGCTTTCTCCCTCCCTCCACTTTTTCATAAACTCTATGT GGTTAGGCTAAAAAGAATCACTATTTGAATCTTATGCTTAAAGTATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0042 a0042	a0042c0041 a0042c0041	a0042c0041t0005 a0042c0041t0005	a0042c0041t0005g0032 a0042c0041t0005g0032	1	418	0.0024	-1548	c.38 others(11): Show c.3868_*5415del	HLA-A	ENSG00000206503.14	transcript	ENST00000376809.10	protein_coding		3453		chr6	TogoVar
SKP2_chr5_36147111_36189319	36172012	GGTTAGGT others(1541): Show GGTTAGGTAAACCCCAACATAAAAATACATAAATGTAGCATTTGATTAGT ATTAAGTAGTGGTTGTTCATTAGGGGCTATTTTGTCTGTACGGGGACATT TGTCAATGTCTGGAGACATTTTTTATTGTCACAGCTGTAGGAGTGCTGAT GGTCTCTCATGGGCGGAAGCCAGGATGCTGGTGGACGGTGTATAGGATGG AGAATAGCATGCACAATAATCTGGTCCAAACATCAGTTCCAAGGTTGAAA AACTATTATAAACTCTGTTAATAAGTTCATATTTATGACTTTTACTTTTT ATTCAGTCCAAGAGGGCAACGAGGATTTTTAGATGAAAACAGGCATTAGA AGTCAAAGGTAGCAGGGAGCAGTCTTTAAAAACCTTAATATTCAGTTACG CTTTATTTTACTTGTATGTTAATGAGAAAATCTTGATTTGCAAAGATAAG TGATTACAAATGGCAAGTTTTTTAAATGGCTTCACCGTCTCAGGCCAACA TTCAGTTTGTGGGCTCTACAAAACCTAGTTAAACCAGCAACACACATCAA CCATATCTTGATGTTAGTACTAGCTTATTTGAGTGTGTTTTGTTTATTAT AGTTTTTATTATTCTGAAAAAGATTTGAATCAAACATCTGCAGAATAGAT CTTAAAATTTAAGTAGTATAAAACTACTGCTCCAGGACAGATGTCCTCTG GTAAGATGTATAAAGCTATAGAAAATAATTGCTAGGATCTCATGAGTGGG TAGAAATTCGAGTCTTTCACCTGTGCAAGGACTCAAATTTGGACTACTGC CATTCCAAACACTTGCATTTTCAGACAAGGTGAACACTTTCTTTAGCAAG CTGTAAAAGCAGCAATCATGTCTTCATTTCATACCACTCTCCCCACCCAG TATTTATAATTACTATTTTAAAACTGATCATAGTGTTATACAGTCATTTA AAAAAAATGTAAAATACAGAAAAACACAAAGGGAAGCAAATTATCAATAA TCTTAACATCTTGCTAGGCTTTTTCCTGTACAAAAACTGTTTTTTTTTTT AATGGGACATGGTATATTAAATACTTCGTAATATGCTTTTTAACCCCATT TTCAGTGACTACATGATGTCATCATCAGTGGCTATGTGATAGTCCATCAA ATAGATATGCAATAATTTATATTAAGTCAATAACAATATATGCAGTTGAT CAGAATTCTAATGGACTTTCAGAATCTTCCCAGTTTTTCTCTCCTATAAA CAATTTTATGAGTGACAGAGACAAATCTTTAGATGCATTTCTAAGGATAG ATTCTTAAAAGTGGAATTGCTGGGTCCAGCATTAAGTACTATTCTCAAGT TTTGGATAGTTTCTGCCAAATTTTCCTCCAAGAAGTTTAAACTCTTCACC CACGAGCATCCTCTTAGTGTGAAATCCCATCACTCTTGGTTCTTCTCTGT CTGCAGGTGAAGGGAAGGCAGTGCCTTGTTTATATTTCTTTCCCACATCT GGATCTTTCACTGGTTTACTGAAAGATTTTCTGACATGAATCGAGGCTC	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0102 a0001c0001t0027g0102	1	402	0.0025	-1548	c.901 others(16): Show c.901+280_901+1827del	SKP2	ENSG00000145604.17	transcript	ENST00000274255.11	protein_coding	7/9			chr5	TogoVar
ANGPT1_chr8_107244482_107502918	107492590	GCGTCCCA others(1538): Show GCGTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAAT ATGTACCCATTTCACACATTTAGGAAGTTCCCACAAATGTGAAAATAAAA CATAAGAGCATTCTCTCTGACTGTTGCACAGCCACCACCGGCCACCAAAA CAATAATATACCAGTGAGAATTAAGTTCTCATGTGCACATATTATACAGA TGTATATTAATATAATTAAGTTCTCATGTGCACATATTATACAGATGCAT ATTATTATAATTAAGTTCTCATGTGCATATAGTATACAGATATATACATA TTATACAGATGTATGCAGTAAATGGCTCCCTACTGTACTGAACAAGAAAT ACTAAGTTCTTGTGCTTATAGAAGTACAAAACATTATTGTACAAAGGAAT ATCTAGCTGACCCTCAAGTAGCCTAGTGCTAACATTTAAGCAGACTTTAG CATCTTAAAGTAGTTACAAGGTCCCTTAATTTTCACTATTTTATAGTTAC CACTATACACTTGAGCACTTGATTTCTTAAAAACTGATTATTACAATAAC AAAAAATTAATCCAGACCCTTAATGAACATGTTCAGAGGTATAAAAATGG ATAAGCGACATTTACTACACTTGAGGAACTCACAGTCTAGGTGGGAAAAC AAGCCTAGAAACAAACAATTAAAACAACCACCACAACAACTTTGAACTAC AGCATTAACATGATACAGTCAATGTACTGTGATGACATTTGAGAACTCAG CCTGGGAGGGTAAGTGGAGTGTGGGTAGATTTCCTGGAGAAACTGGCAAC AGAGCTGACCCTTAAAGAATAATTAAGAAGATGAATTGGAGTGACTAGAG AAGTTTTTGAGATTCTAGATTACTGGTTAAATATAATTTGAATAATTAAT AACCACCTACTCTGGACCCAATATTGTTTTAACTAGTATTAGGACAAAAA TAACCATAGGTTATAGTCCTTGCCTATAGGACAACTTACAATCTATTGAA GAGGTAAGGTGTATACCTCGAATAAAATGCTGACAGTAGACAGTAAAGTG CAGAATGCAATAGATAATGCATTCATTTTTTCATTTAACACATATTTATT GCATATCTGTTATAAATATGTTATATACTCTTCTGGGAACTGAGGTTATG ACATTGGACAAACACACATGGTCACTGGCCTCATGGAGGTCACATTCTAA TGGATATTAATAGGGATTAATATATATGTAATATATGGGTTTAAAAAAAT CGTCATCATCAATGTGTTTTGGGTAATAGCATTTCAAATCTTAACTCTGA AGAAAAGAATACAATATGCAAATAGGGGACATCCTTAACCAAAAAATGTT GTCAATAGAAAAACAGCTAAATAGTCCAGTAAAATCTTTGTATTTCTTAA AATATTCTGGATGGCAATTCATAACTATATTTTCCATTAATAGTCATCAA TTTTAGCTAGTGTAAAATATGTATAGCAAATAGACTATTGTTTTCTGTTA CAAGGCATTATTGACTCAATTTATTTAAACTTTTAACAAAAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG01884.hp2 others(21): Show HG00735.hp2 HG00741.hp1 HG01884.hp2 HG02015.hp1 HG02155.hp2 HG02572.hp2 HG02630.hp1 HG02683.hp1 HG02738.hp1 HG02896.hp2 HG02922.hp1 HG03098.hp2 HG04228.hp1 NA18961.hp2 NA18981.hp2 NA18984.hp1 NA19010.hp2 NA19012.hp2 NA19067.hp2 NA19074.hp2 NA19077.hp1 NA19085.hp1 NA19091.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011	a0001c0001t0001g0004 a0001c0001t0001g0068 a0001c0001t0001g0072 others(21): Show a0001c0001t0001g0004 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0006g0070 a0001c0001t0006g0071 a0001c0001t0011g0069 a0001c0001t0011g0076	24	292	0.0822	-1545	c.297 others(17): Show c.297+3127_297+4671del	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
KLK1_chr19_50814146_50828787	50827242	TGGGCAAC others(1538): Show TGGGCAACCCGAGGTCTCCCGACCCTTTAGAAATCTCGACATCCCATTAC CTTTTCCCAAGACCCTGAAGCCAATGGTTCCAGCCCCTGCTCCTCAAGGA CCAACGAGTCTGAAGTCAGGCACACTCCTAGAACTCGATCCCCTCCAACT ACTCCCAGCCCCCTCCTGGTCTGTCCCCGAATCCAGGATTCTCACATCCC TAGAACTGAGGCTCAAAAGCTGGAACTAGTCTTCTCCTTCCTCCTTCAGA GATCGAAGGCTTTGAAACACACACTCCTTCCTAACCCAGGGGCTTGACAT CCGGCCTCCTCGTCTTTCAGAACCCAGGAGTTCTGGCGTCTGCCTCCGTC TTCCCCCAAATCTAGGAGCTCTTCCCCCCGAACCAGGCTCCCTCAGGACC CTGAGCCCCTGCCTTCATACCGGCTTTGGCAGTGGGCCGCAGACAGCACC CAGTGTGGGGAGATGAGGGAAGCGCCACAGTTAAAGCGTCCACGCTCGTA GAGAGCCACTTGCCATGGCTGGGAGTGGGGTGCACACTCGTCACCTTCCA GCAACTTGTCACCATCCTGGGCTGCTAAGAGAAGGGGTAGAGGATGCCTG AGGACAGGGACGTTTACATTGCCTCCTACACCTTCCTTGCACCCTGCCCT AACTACTATATGCCTATGCCTTTCCCCTAACTTCTCAAGACACCCTGCCC TGTTTTTGTTTGTTGTTGTTGTTGTTTTTGAGACGGAGTCTCACTCTTTT GCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACTTCCGCC TCCTGGGTTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTAGCTGAGGTG CCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTCT CACCATGTTAGCCAGGGTAGTCTCAAACTTCTGACTTCAAATGCTCTGCC CGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCTC CGCCTGCCCTGTTGTTTATTTACAACCGCTGCCTGTTTTCTCCAGAACTC TAGCCCCCACCCCATTTGCTATAAGACTCTGGGAGAGAGAGGAAGGGGAA CAGACCAGAGGGCAAGAAGTCCTCTGTGGTTGGGGGTGGAGACAGGGGCA CTGGATACAGGTTCAGACAGGTGGTCACTTGAAACCAGTCATTCACGGTC ACCAAATTGTCACAGACGTCAAACGCATGTGGCCACTCAGTATGTGTGAC CCAGCCTTGGCCCCAGAGTCTGGACATGTCAGCCAAATTCAGTGTGCAGT ATGAGTCCCAGATGTGGCTATACAAGGTCATGGACATGCATACATGCACA TCCAGCTTCCACACTTAGGTACAGCTATGGACAGGACTGGAAGCTGAAAT TCACTTGCATGCACATGGGTTGCAGCTTCAAGAATCACAGCACAGGCTGG GCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG TGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG03225.hp2 HG01099.hp2 HG03225.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0005	2	422	0.0047	-1545	c.-50 others(11): Show c.-5039_-3495del	KLK1	ENSG00000167748.11	transcript	ENST00000301420.3	protein_coding		3456		chr19	TogoVar
AHI1_chr6_135278532_135502740	135460996	TATCTTCA others(1537): Show TATCTTCAGAACTTAGGAAAGATTTCTTAAATCACAGCACTTACCATCAA AGGAAAAAAATGGATAAACTGGACAATACAAAAATTTCTGTTTTTCAAAA GACACCAATGAGAGAGAAATAATCAAACCAGAGTAGGACGACATTTGCGA TATAAATGTGGGTAGGTATTTATATCTGAGAATAATCTCATATTGAGGTA TATAAACCTATCACTACAAATCAATTAGAAAAAGACAATTCTGTGTTTTA AAAAATGCAGACAACTTGAATATATTTACAAATGTCAAAATCTAAGTAGT TAATAAACATGAAAACACTCAACTTCAATAGTTACCATGGAAATAAAATT AAAACCAAAATGAATATCACTATACATTCCTGAAGAATGAGGAAAATTTA GTCACTCCTAAGAATGACTAAAACGTTAAAAAACAGTATTACATGTTGGT AAAGATGTGGAGTGACTGGAACTCTCAAACACTGCTAGTGTCAACTGGTA AACCAACTTTGGAAAACTGGAAGTAATTATTAAAGCAAAAAATATACATA ATCTATGACAGCAATTCTACTCCTAACAATATGCCCAAGATAAAGGTATG CATGTGCTTACCAAATACGTGACTGCAATGTGAATTACCGCTTTACTTAT AATTGCCTAAAACTAGAAACAACTCAAATGACCATCAATAAAATAGGCAA ATTAACTGTGGTATATTCACACAATGGATATCTAAATAATACAAAAACAG AATTAAGAATGAATAAGCTCAACTGTATGCAAGCAACAGTAGTATAAATC TTACAAAATTAACATTGAGTAAAAAAAGTCAGGCACAAGGAGCACAGTAT TTATCATTCTATTCATATTAAAGTATAAAAATAAGCAAAAATAAACTCTG TTAGATGTCCAGGTAGTGGTTACTCCCACAGGGCAACTAACGGGAAGGTG ATTTTTCTGGGTGCTAATGATGTTCTGTTTCCAAATTTAGGTAATGATTT TATAGGTATGTTCAGTTTGTGAAAAAAACTTTAAAAATATGTATATGAGT ATACTGCTTAGTGCTTTATATATATAGAAACACATAAAACAAGTATACTG CTTAGTGCTTTTCTATATATATCTATATACACATTATGCTTCAACAAAAG ATTTTAAAATTTTAATTATAGAAACCACAAAACATCATCACTTACATCTT CTAATGAATAAGTACTATAAAATCTAAAATTGCCCATTTTAATCCCAATT TTTGGCCAATCAAATGGAAACTGAAAGACTAAAAAAGGATGTATGAGTAG AAAAGAACATGTAAAGAAAAATAAGAGAAAACAAACAAGAAAAGAAGAAG ACAGAAATCAACAAGGCAAAGAGAAAAGTTGAGAAAGGAAAGAAGTGGTA TTAGGCTGACGAATTGGGAGGATACCATGTTGGACAGGATGCAGCCTTAA CATCAGAAATGTTTATTGGCTGCTGACCATTTATAGCTTTCAACAACTGA GTCCTAACCATTTAGAGGATGTAAACTCAATGGTTTAAAGAAGAA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp2 HG03209.hp2 HG01074.hp2 HG01099.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216	3	220	0.0136	-1544	c.931 others(16): Show c.931+585_931+2128del	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	8/28			chr6	TogoVar

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Search Results (Total: 2609 hits)